Hgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000449886 O43298 + 1 2 1_467 -8 468 not_retained Chain ID=PRO_0000047519;Note=Zinc finger and BTB domain-containing protein 43 Hgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000449886 O43298 + 1 2 33_97 -8 468 not_retained Domain Note=BTB;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00037 Hgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000449886 O43298 + 1 2 373_394 -8 468 not_retained Zinc finger Note=C2H2-type 1%3B atypical;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00042 Hgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000449886 O43298 + 1 2 400_422 -8 468 not_retained Zinc finger Note=C2H2-type 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00042 Hgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000449886 O43298 + 1 2 428_450 -8 468 not_retained Zinc finger Note=C2H2-type 3%3B atypical;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00042 Hgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000449886 O43298 + 1 2 1_1 -8 468 not_retained Modified residue Note=N-acetylmethionine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:22814378;Dbxref=PMID:22814378 Hgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000449886 O43298 + 1 2 423_423 -8 468 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000449886 O43298 + 1 2 182_182 -8 468 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:25218447,ECO:0000244|PubMed:28112733;Dbxref=PMID:25218447,PMID:28112733 Hgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000449886 O43298 + 1 2 241_241 -8 468 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000449886 O43298 + 1 2 247_247 -8 468 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:25218447,ECO:0000244|PubMed:25755297,ECO:0000244|PubMed:28112733;Dbxref=PMID:25218447,PMID:25755297,PMID:28112733 Hgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000449886 O43298 + 1 2 297_297 -8 468 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000449886 O43298 + 1 2 358_358 -8 468 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000449886 O43298 + 1 2 458_458 -8 468 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:25218447,ECO:0000244|PubMed:25755297,ECO:0000244|PubMed:28112733;Dbxref=PMID:25218447,PMID:25755297,PMID:28112733 Hgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000449886 O43298 + 1 2 380_383 -8 468 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CSH Hgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000449886 O43298 + 1 2 384_394 -8 468 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CSH Hgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000449886 O43298 + 1 2 399_401 -8 468 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CSH Hgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000449886 O43298 + 1 2 403_405 -8 468 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CSH Hgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000449886 O43298 + 1 2 408_412 -8 468 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CSH Hgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000449886 O43298 + 1 2 413_419 -8 468 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CSH Hgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000449886 O43298 + 1 2 420_422 -8 468 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CSH Hgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000449886 O43298 + 1 2 431_433 -8 468 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CSH Hgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000449886 O43298 + 1 2 436_438 -8 468 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CSH Hgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000449886 O43298 + 1 2 440_458 -8 468 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CSH Hgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000373464 O43298 + 1 3 1_467 -49 468 not_retained Chain ID=PRO_0000047519;Note=Zinc finger and BTB domain-containing protein 43 Hgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000373464 O43298 + 1 3 33_97 -49 468 not_retained Domain Note=BTB;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00037 Hgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000373464 O43298 + 1 3 373_394 -49 468 not_retained Zinc finger Note=C2H2-type 1%3B atypical;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00042 Hgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000373464 O43298 + 1 3 400_422 -49 468 not_retained Zinc finger Note=C2H2-type 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00042 Hgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000373464 O43298 + 1 3 428_450 -49 468 not_retained Zinc finger Note=C2H2-type 3%3B atypical;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00042 Hgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000373464 O43298 + 1 3 1_1 -49 468 not_retained Modified residue Note=N-acetylmethionine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:22814378;Dbxref=PMID:22814378 Hgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000373464 O43298 + 1 3 423_423 -49 468 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000373464 O43298 + 1 3 182_182 -49 468 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:25218447,ECO:0000244|PubMed:28112733;Dbxref=PMID:25218447,PMID:28112733 Hgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000373464 O43298 + 1 3 241_241 -49 468 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000373464 O43298 + 1 3 247_247 -49 468 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:25218447,ECO:0000244|PubMed:25755297,ECO:0000244|PubMed:28112733;Dbxref=PMID:25218447,PMID:25755297,PMID:28112733 Hgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000373464 O43298 + 1 3 297_297 -49 468 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000373464 O43298 + 1 3 358_358 -49 468 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000373464 O43298 + 1 3 458_458 -49 468 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:25218447,ECO:0000244|PubMed:25755297,ECO:0000244|PubMed:28112733;Dbxref=PMID:25218447,PMID:25755297,PMID:28112733 Hgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000373464 O43298 + 1 3 380_383 -49 468 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CSH Hgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000373464 O43298 + 1 3 384_394 -49 468 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CSH Hgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000373464 O43298 + 1 3 399_401 -49 468 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CSH Hgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000373464 O43298 + 1 3 403_405 -49 468 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CSH Hgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000373464 O43298 + 1 3 408_412 -49 468 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CSH Hgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000373464 O43298 + 1 3 413_419 -49 468 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CSH Hgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000373464 O43298 + 1 3 420_422 -49 468 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CSH Hgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000373464 O43298 + 1 3 431_433 -49 468 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CSH Hgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000373464 O43298 + 1 3 436_438 -49 468 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CSH Hgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000373464 O43298 + 1 3 440_458 -49 468 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CSH Hgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000373457 O43298 + 1 1 1_467 -367 468 not_retained Chain ID=PRO_0000047519;Note=Zinc finger and BTB domain-containing protein 43 Hgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000373457 O43298 + 1 1 33_97 -367 468 not_retained Domain Note=BTB;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00037 Hgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000373457 O43298 + 1 1 373_394 -367 468 not_retained Zinc finger Note=C2H2-type 1%3B atypical;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00042 Hgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000373457 O43298 + 1 1 400_422 -367 468 not_retained Zinc finger Note=C2H2-type 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00042 Hgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000373457 O43298 + 1 1 428_450 -367 468 not_retained Zinc finger Note=C2H2-type 3%3B atypical;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00042 Hgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000373457 O43298 + 1 1 1_1 -367 468 not_retained Modified residue Note=N-acetylmethionine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:22814378;Dbxref=PMID:22814378 Hgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000373457 O43298 + 1 1 423_423 -367 468 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000373457 O43298 + 1 1 182_182 -367 468 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:25218447,ECO:0000244|PubMed:28112733;Dbxref=PMID:25218447,PMID:28112733 Hgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000373457 O43298 + 1 1 241_241 -367 468 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000373457 O43298 + 1 1 247_247 -367 468 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:25218447,ECO:0000244|PubMed:25755297,ECO:0000244|PubMed:28112733;Dbxref=PMID:25218447,PMID:25755297,PMID:28112733 Hgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000373457 O43298 + 1 1 297_297 -367 468 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000373457 O43298 + 1 1 358_358 -367 468 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000373457 O43298 + 1 1 458_458 -367 468 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:25218447,ECO:0000244|PubMed:25755297,ECO:0000244|PubMed:28112733;Dbxref=PMID:25218447,PMID:25755297,PMID:28112733 Hgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000373457 O43298 + 1 1 380_383 -367 468 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CSH Hgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000373457 O43298 + 1 1 384_394 -367 468 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CSH Hgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000373457 O43298 + 1 1 399_401 -367 468 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CSH Hgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000373457 O43298 + 1 1 403_405 -367 468 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CSH Hgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000373457 O43298 + 1 1 408_412 -367 468 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CSH Hgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000373457 O43298 + 1 1 413_419 -367 468 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CSH Hgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000373457 O43298 + 1 1 420_422 -367 468 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CSH Hgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000373457 O43298 + 1 1 431_433 -367 468 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CSH Hgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000373457 O43298 + 1 1 436_438 -367 468 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CSH Hgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000373457 O43298 + 1 1 440_458 -367 468 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CSH Hgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000395146 P51825 + 4 21 1_1210 353 1219 not_retained Chain ID=PRO_0000215910;Note=AF4/FMR2 family member 1 Hgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000395146 P51825 + 4 21 483_492 353 1219 not_retained Compositional bias Note=Poly-Ser Hgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000395146 P51825 + 4 21 835_843 353 1219 not_retained Compositional bias Note=Poly-Ser Hgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000395146 P51825 + 4 21 866_869 353 1219 not_retained Compositional bias Note=Poly-Pro Hgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000395146 P51825 + 4 21 871_874 353 1219 not_retained Compositional bias Note=Poly-Ser Hgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000395146 P51825 + 4 21 199_199 353 1219 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O88573 Hgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000395146 P51825 + 4 21 206_206 353 1219 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:19369195,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:20068231;Dbxref=PMID:18669648,PMID:18691976,PMID:19369195,PMID:19690332,PMID:20068231 Hgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000395146 P51825 + 4 21 212_212 353 1219 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:19369195;Dbxref=PMID:18669648,PMID:18691976,PMID:19369195 Hgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000395146 P51825 + 4 21 220_220 353 1219 retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Hgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000395146 P51825 + 4 21 588_588 353 1219 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:19369195,ECO:0000244|PubMed:23186163;Dbxref=PMID:19369195,PMID:23186163 Hgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000395146 P51825 + 4 21 681_681 353 1219 not_retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Hgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000395146 P51825 + 4 21 697_697 353 1219 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:21406692;Dbxref=PMID:18691976,PMID:21406692 Hgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000395146 P51825 + 4 21 750_750 353 1219 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19369195,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:19369195,PMID:19690332,PMID:23186163 Hgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000395146 P51825 + 4 21 755_755 353 1219 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Hgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000395146 P51825 + 4 21 1_5 353 1219 retained Alternative sequence ID=VSP_046095;Note=In isoform 2. MAAQS->MAFTERVNSSGN;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Hgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000395146 P51825 + 4 21 1096_1096 353 1219 not_retained Alternative sequence ID=VSP_046096;Note=In isoform 2 and isoform 3. A->AR;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:8443374;Dbxref=PMID:14702039,PMID:8443374 Hgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000395146 P51825 + 4 21 209_209 353 1219 retained Natural variant ID=VAR_020370;Note=P->A;Dbxref=dbSNP:rs3733378 Hgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000395146 P51825 + 4 21 1204_1204 353 1219 not_retained Natural variant ID=VAR_036130;Note=In a breast cancer sample%3B somatic mutation. Q->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16959974;Dbxref=PMID:16959974 Hgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000395146 P51825 + 4 21 46_46 353 1219 retained Sequence conflict Note=K->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000395146 P51825 + 4 21 624_624 353 1219 not_retained Sequence conflict Note=E->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000395146 P51825 + 4 21 762_762 353 1219 not_retained Sequence conflict Note=M->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000395146 P51825 + 4 21 820_820 353 1219 not_retained Sequence conflict Note=R->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000395146 P51825 + 4 21 899_905 353 1219 not_retained Sequence conflict Note=SASSTKS->VPAVPRV;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000395146 P51825 + 4 21 928_929 353 1219 not_retained Sequence conflict Note=EH->AD;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000395146 P51825 + 4 21 999_999 353 1219 not_retained Sequence conflict Note=I->N;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000395146 P51825 + 4 21 1140_1140 353 1219 not_retained Sequence conflict Note=N->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000395146 P51825 + 4 21 768_770 353 1219 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2LM0 Hgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000307808 P51825 + 3 20 1_1210 346 1211 not_retained Chain ID=PRO_0000215910;Note=AF4/FMR2 family member 1 Hgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000307808 P51825 + 3 20 483_492 346 1211 not_retained Compositional bias Note=Poly-Ser Hgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000307808 P51825 + 3 20 835_843 346 1211 not_retained Compositional bias Note=Poly-Ser Hgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000307808 P51825 + 3 20 866_869 346 1211 not_retained Compositional bias Note=Poly-Pro Hgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000307808 P51825 + 3 20 871_874 346 1211 not_retained Compositional bias Note=Poly-Ser Hgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000307808 P51825 + 3 20 199_199 346 1211 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O88573 Hgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000307808 P51825 + 3 20 206_206 346 1211 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:19369195,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:20068231;Dbxref=PMID:18669648,PMID:18691976,PMID:19369195,PMID:19690332,PMID:20068231 Hgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000307808 P51825 + 3 20 212_212 346 1211 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:19369195;Dbxref=PMID:18669648,PMID:18691976,PMID:19369195 Hgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000307808 P51825 + 3 20 220_220 346 1211 retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Hgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000307808 P51825 + 3 20 588_588 346 1211 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:19369195,ECO:0000244|PubMed:23186163;Dbxref=PMID:19369195,PMID:23186163 Hgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000307808 P51825 + 3 20 681_681 346 1211 not_retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Hgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000307808 P51825 + 3 20 697_697 346 1211 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:21406692;Dbxref=PMID:18691976,PMID:21406692 Hgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000307808 P51825 + 3 20 750_750 346 1211 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19369195,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:19369195,PMID:19690332,PMID:23186163 Hgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000307808 P51825 + 3 20 755_755 346 1211 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Hgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000307808 P51825 + 3 20 1_5 346 1211 retained Alternative sequence ID=VSP_046095;Note=In isoform 2. MAAQS->MAFTERVNSSGN;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Hgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000307808 P51825 + 3 20 1096_1096 346 1211 not_retained Alternative sequence ID=VSP_046096;Note=In isoform 2 and isoform 3. A->AR;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:8443374;Dbxref=PMID:14702039,PMID:8443374 Hgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000307808 P51825 + 3 20 209_209 346 1211 retained Natural variant ID=VAR_020370;Note=P->A;Dbxref=dbSNP:rs3733378 Hgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000307808 P51825 + 3 20 1204_1204 346 1211 not_retained Natural variant ID=VAR_036130;Note=In a breast cancer sample%3B somatic mutation. Q->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16959974;Dbxref=PMID:16959974 Hgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000307808 P51825 + 3 20 46_46 346 1211 retained Sequence conflict Note=K->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000307808 P51825 + 3 20 624_624 346 1211 not_retained Sequence conflict Note=E->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000307808 P51825 + 3 20 762_762 346 1211 not_retained Sequence conflict Note=M->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000307808 P51825 + 3 20 820_820 346 1211 not_retained Sequence conflict Note=R->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000307808 P51825 + 3 20 899_905 346 1211 not_retained Sequence conflict Note=SASSTKS->VPAVPRV;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000307808 P51825 + 3 20 928_929 346 1211 not_retained Sequence conflict Note=EH->AD;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000307808 P51825 + 3 20 999_999 346 1211 not_retained Sequence conflict Note=I->N;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000307808 P51825 + 3 20 1140_1140 346 1211 not_retained Sequence conflict Note=N->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000307808 P51825 + 3 20 768_770 346 1211 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2LM0 Hgene In-frame DA403287 ChiTaRS ARL16 chr17:79650564 LPIN1 chr2:11905658 ENST00000397498 Q0P5N6 - 2 5 1_197 64 198 not_retained Chain ID=PRO_0000264630;Note=ADP-ribosylation factor-like protein 16 Hgene In-frame DA403287 ChiTaRS ARL16 chr17:79650564 LPIN1 chr2:11905658 ENST00000397498 Q0P5N6 - 2 5 30_37 64 198 retained Nucleotide binding Note=GTP;Ontology_term=ECO:0000250;evidence=ECO:0000250 Hgene In-frame DA403287 ChiTaRS ARL16 chr17:79650564 LPIN1 chr2:11905658 ENST00000397498 Q0P5N6 - 2 5 82_86 64 198 not_retained Nucleotide binding Note=GTP;Ontology_term=ECO:0000250;evidence=ECO:0000250 Hgene In-frame DA403287 ChiTaRS ARL16 chr17:79650564 LPIN1 chr2:11905658 ENST00000397498 Q0P5N6 - 2 5 139_142 64 198 not_retained Nucleotide binding Note=GTP;Ontology_term=ECO:0000250;evidence=ECO:0000250 Hgene In-frame DA403287 ChiTaRS ARL16 chr17:79650564 LPIN1 chr2:11905658 ENST00000397498 Q0P5N6 - 2 5 10_10 64 198 retained Natural variant ID=VAR_059129;Note=S->R;Dbxref=dbSNP:rs8066889 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 1_1 213 247 retained Initiator methionine Note=Removed;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:22223895,ECO:0000244|PubMed:22814378;Dbxref=PMID:22223895,PMID:22814378 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 2_246 213 247 not_retained Chain ID=PRO_0000199694;Note=Phosphomannomutase 2 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 12_12 213 247 retained Active site Note=Nucleophile;Ontology_term=ECO:0000250;evidence=ECO:0000250 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 14_14 213 247 retained Active site Note=Proton donor/acceptor;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 21_21 213 247 retained Binding site Note=Substrate;Ontology_term=ECO:0000250;evidence=ECO:0000250 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 123_123 213 247 retained Natural variant ID=VAR_006101;Note=In CDG1A. R->Q;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11058895,ECO:0000269|PubMed:11058896,ECO:0000269|PubMed:15844218;Dbxref=dbSNP:rs141498002,PMID:11058895,PMID:11058896,PMID:15844218 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 134_134 213 247 retained Binding site Note=Substrate;Ontology_term=ECO:0000250;evidence=ECO:0000250 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 141_141 213 247 retained Natural variant ID=VAR_006105;Note=In CDG1A%3B frequent mutation%3B loss of activity%3B observed in heterozygous patients%3B homozygosis of this mutation is incompatible with life. R->H;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10571956,ECO:0000269|PubMed:10602363,ECO:0000269|PubMed:10801058,ECO:0000269|PubMed:11058895,ECO:0000269|PubMed:11058896,ECO:0000269|PubMed:15844218;Dbxref=dbSNP:rs28936415,PMID:10571956,PMID:10602363,PMID:10801058,PMID:11058895,PMID:11058896,PMID:15844218 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 179_179 213 247 retained Binding site Note=Substrate;Ontology_term=ECO:0000250;evidence=ECO:0000250 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 181_181 213 247 retained Binding site Note=Substrate;Ontology_term=ECO:0000250;evidence=ECO:0000250 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 2_2 213 247 retained Modified residue Note=N-acetylalanine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:22223895,ECO:0000244|PubMed:22814378;Dbxref=PMID:22223895,PMID:22814378 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 149_149 213 247 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9Z2M7 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 117_119 213 247 retained Alternative sequence ID=VSP_056228;Note=In isoform 2. GTF->KKI;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 120_246 213 247 not_retained Alternative sequence ID=VSP_056229;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 9_9 213 247 retained Natural variant ID=VAR_022469;Note=In CDG1A. C->Y;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11058895,ECO:0000269|PubMed:11058896,ECO:0000269|PubMed:15844218;Dbxref=dbSNP:rs104894532,PMID:11058895,PMID:11058896,PMID:15844218 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 11_11 213 247 retained Natural variant ID=VAR_022470;Note=In CDG1A. F->C;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11058895,ECO:0000269|PubMed:11058896;Dbxref=PMID:11058895,PMID:11058896 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 15_15 213 247 retained Natural variant ID=VAR_022471;Note=In CDG1A. G->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12357336;Dbxref=PMID:12357336 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 20_20 213 247 retained Natural variant ID=VAR_022472;Note=In CDG1A%3B reduction of activity. P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15844218;Dbxref=dbSNP:rs949271895,PMID:15844218 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 32_32 213 247 retained Natural variant ID=VAR_022473;Note=In CDG1A. L->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11058895,ECO:0000269|PubMed:15844218;Dbxref=dbSNP:rs398123312,PMID:11058895,PMID:15844218 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 37_37 213 247 retained Natural variant ID=VAR_022133;Note=Q->L;Dbxref=dbSNP:rs2304472 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 37_37 213 247 retained Natural variant ID=VAR_022133;Note=Q->L;Dbxref=dbSNP:rs2304472 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 42_42 213 247 retained Natural variant ID=VAR_022475;Note=G->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12357336,ECO:0000269|PubMed:15844218;Dbxref=dbSNP:rs755402538,PMID:12357336,PMID:15844218 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 44_44 213 247 retained Natural variant ID=VAR_022563;Note=In CDG1A. V->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15844218;Dbxref=PMID:15844218 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 44_44 213 247 retained Natural variant ID=VAR_022563;Note=In CDG1A. V->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15844218;Dbxref=PMID:15844218 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 64_64 213 247 retained Natural variant ID=VAR_022476;Note=In CDG1A. Y->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12357336;Dbxref=PMID:12357336 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 65_65 213 247 retained Natural variant ID=VAR_006094;Note=In CDG1A. D->Y;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11058895,ECO:0000269|PubMed:15844218;Dbxref=dbSNP:rs104894527,PMID:11058895,PMID:15844218 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 67_67 213 247 retained Natural variant ID=VAR_022477;Note=In CDG1A. V->M;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11058895,ECO:0000269|PubMed:11058896;Dbxref=PMID:11058895,PMID:11058896 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 69_69 213 247 retained Natural variant ID=VAR_022478;Note=In CDG1A. P->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11058895,ECO:0000269|PubMed:15844218;Dbxref=dbSNP:rs769648248,PMID:11058895,PMID:15844218 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 76_76 213 247 retained Natural variant ID=VAR_022479;Note=In CDG1A. Y->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11058895;Dbxref=PMID:11058895 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 93_93 213 247 retained Natural variant ID=VAR_022480;Note=In CDG1A. E->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12357336;Dbxref=PMID:12357336 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 101_101 213 247 retained Natural variant ID=VAR_006095;Note=In CDG1A. N->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11058895;Dbxref=PMID:11058895 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 103_103 213 247 retained Natural variant ID=VAR_022481;Note=In CDG1A. C->F;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11058895,ECO:0000269|PubMed:15844218;Dbxref=PMID:11058895,PMID:15844218 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 104_104 213 247 retained Natural variant ID=VAR_012344;Note=In CDG1A. L->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11350185;Dbxref=dbSNP:rs770458492,PMID:11350185 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 106_106 213 247 retained Natural variant ID=VAR_006096;Note=In CDG1A. Y->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11058895;Dbxref=PMID:11058895 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 108_108 213 247 retained Natural variant ID=VAR_006097;Note=In CDG1A. A->V;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11058895,ECO:0000269|PubMed:15844218;Dbxref=dbSNP:rs200503569,PMID:11058895,PMID:15844218 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 113_113 213 247 retained Natural variant ID=VAR_006098;Note=In CDG1A. P->L;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11058895,ECO:0000269|PubMed:11058896,ECO:0000269|PubMed:15844218;Dbxref=dbSNP:rs80338700,PMID:11058895,PMID:11058896,PMID:15844218 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 117_117 213 247 retained Natural variant ID=VAR_006099;Note=In CDG1A%3B loss of activity. G->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10602363,ECO:0000269|PubMed:11058895,ECO:0000269|PubMed:11058896,ECO:0000269|PubMed:9781039;Dbxref=dbSNP:rs104894530,PMID:10602363,PMID:11058895,PMID:11058896,PMID:9781039 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 119_119 213 247 retained Natural variant ID=VAR_006100;Note=In CDG1A%3B partial loss of activity. F->L;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10602363,ECO:0000269|PubMed:10801058,ECO:0000269|PubMed:11058895,ECO:0000269|PubMed:11058896,ECO:0000269|PubMed:15844218;Dbxref=dbSNP:rs80338701,PMID:10602363,PMID:10801058,PMID:11058895,PMID:11058896,PMID:15844218 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 120_120 213 247 retained Natural variant ID=VAR_022482;Note=In CDG1A. I->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11058895;Dbxref=dbSNP:rs368582085,PMID:11058895 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 123_123 213 247 retained Natural variant ID=VAR_006101;Note=In CDG1A. R->Q;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11058895,ECO:0000269|PubMed:11058896,ECO:0000269|PubMed:15844218;Dbxref=dbSNP:rs141498002,PMID:11058895,PMID:11058896,PMID:15844218 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 129_129 213 247 retained Natural variant ID=VAR_006102;Note=In CDG1A. V->M;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11058895,ECO:0000269|PubMed:11058896,ECO:0000269|PubMed:15844218;Dbxref=dbSNP:rs104894525,PMID:11058895,PMID:11058896,PMID:15844218 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 131_131 213 247 retained Natural variant ID=VAR_006103;Note=In CDG1A. P->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11058895,ECO:0000269|PubMed:15844218;Dbxref=PMID:11058895,PMID:15844218 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 132_132 213 247 retained Natural variant ID=VAR_006104;Note=In CDG1A. I->T;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11058895,ECO:0000269|PubMed:15844218;Dbxref=dbSNP:rs80338702,PMID:11058895,PMID:15844218 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 132_132 213 247 retained Natural variant ID=VAR_006104;Note=In CDG1A. I->T;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11058895,ECO:0000269|PubMed:15844218;Dbxref=dbSNP:rs80338702,PMID:11058895,PMID:15844218 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 132_132 213 247 retained Natural variant ID=VAR_006104;Note=In CDG1A. I->T;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11058895,ECO:0000269|PubMed:15844218;Dbxref=dbSNP:rs80338702,PMID:11058895,PMID:15844218 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 139_139 213 247 retained Natural variant ID=VAR_009232;Note=In CDG1A%3B this mutation seems to disrupt a splicing enhancer sequence and thus results in most cases in a protein with exon 5 skipped%3B slightly reduced activity. E->K;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10571956,ECO:0000269|PubMed:11058895,ECO:0000269|PubMed:15844218;Dbxref=dbSNP:rs80338703,PMID:10571956,PMID:11058895,PMID:15844218 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 141_141 213 247 retained Natural variant ID=VAR_006105;Note=In CDG1A%3B frequent mutation%3B loss of activity%3B observed in heterozygous patients%3B homozygosis of this mutation is incompatible with life. R->H;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10571956,ECO:0000269|PubMed:10602363,ECO:0000269|PubMed:10801058,ECO:0000269|PubMed:11058895,ECO:0000269|PubMed:11058896,ECO:0000269|PubMed:15844218;Dbxref=dbSNP:rs28936415,PMID:10571956,PMID:10602363,PMID:10801058,PMID:11058895,PMID:11058896,PMID:15844218 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 141_141 213 247 retained Natural variant ID=VAR_006105;Note=In CDG1A%3B frequent mutation%3B loss of activity%3B observed in heterozygous patients%3B homozygosis of this mutation is incompatible with life. R->H;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10571956,ECO:0000269|PubMed:10602363,ECO:0000269|PubMed:10801058,ECO:0000269|PubMed:11058895,ECO:0000269|PubMed:11058896,ECO:0000269|PubMed:15844218;Dbxref=dbSNP:rs28936415,PMID:10571956,PMID:10602363,PMID:10801058,PMID:11058895,PMID:11058896,PMID:15844218 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 144_144 213 247 retained Natural variant ID=VAR_022486;Note=In CDG1A. F->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10066032;Dbxref=dbSNP:rs150719105,PMID:10066032 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 148_148 213 247 retained Natural variant ID=VAR_022487;Note=In CDG1A. D->N;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10801058,ECO:0000269|PubMed:11058895;Dbxref=dbSNP:rs148032587,PMID:10801058,PMID:11058895 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 151_151 213 247 retained Natural variant ID=VAR_022488;Note=In CDG1A. E->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11058895;Dbxref=PMID:11058895 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 153_153 213 247 retained Natural variant ID=VAR_022489;Note=In CDG1A. I->T;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11058895,ECO:0000269|PubMed:15844218;Dbxref=dbSNP:rs150577656,PMID:11058895,PMID:15844218 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 157_157 213 247 retained Natural variant ID=VAR_022490;Note=In CDG1A. F->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11058895,ECO:0000269|PubMed:15844218;Dbxref=dbSNP:rs190521996,PMID:11058895,PMID:15844218 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 162_162 213 247 retained Natural variant ID=VAR_006106;Note=In CDG1A. R->W;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11058895,ECO:0000269|PubMed:15844218;Dbxref=dbSNP:rs104894526,PMID:11058895,PMID:15844218 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 172_172 213 247 retained Natural variant ID=VAR_022491;Note=In CDG1A. F->V;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11058895,ECO:0000269|PubMed:11058896;Dbxref=PMID:11058895,PMID:11058896 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 175_175 213 247 retained Natural variant ID=VAR_006107;Note=In CDG1A. G->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11058895,ECO:0000269|PubMed:11058896;Dbxref=dbSNP:rs941830625,PMID:11058895,PMID:11058896 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 176_176 213 247 retained Natural variant ID=VAR_022492;Note=In CDG1A%3B loss of activity. G->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15844218;Dbxref=PMID:15844218 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 177_177 213 247 retained Natural variant ID=VAR_022493;Note=In CDG1A%3B partial loss of activity. Q->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15844218;Dbxref=PMID:15844218 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 183_183 213 247 retained Natural variant ID=VAR_022494;Note=In CDG1A. F->S;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10801058,ECO:0000269|PubMed:11058895,ECO:0000269|PubMed:11058896;Dbxref=dbSNP:rs780581250,PMID:10801058,PMID:11058895,PMID:11058896 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 185_185 213 247 retained Natural variant ID=VAR_022495;Note=In CDG1A. D->G;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11058895,ECO:0000269|PubMed:11058896;Dbxref=PMID:11058895,PMID:11058896 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 188_188 213 247 retained Natural variant ID=VAR_006108;Note=In CDG1A%3B severe. D->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11058895;Dbxref=dbSNP:rs80338704,PMID:11058895 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 192_192 213 247 retained Natural variant ID=VAR_022496;Note=In CDG1A%3B normal activity but lower affinity for alpha-D-mannose 1-phosphate. C->G;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10602363,ECO:0000269|PubMed:11058895,ECO:0000269|PubMed:11058896;Dbxref=PMID:10602363,PMID:11058895,PMID:11058896 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 195_195 213 247 retained Natural variant ID=VAR_022497;Note=In CDG1A. H->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11058895;Dbxref=PMID:11058895 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 197_197 213 247 retained Natural variant ID=VAR_022498;Note=E->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11058895,ECO:0000269|PubMed:15844218;Dbxref=dbSNP:rs34258285,PMID:11058895,PMID:15844218 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 206_206 213 247 retained Natural variant ID=VAR_022499;Note=In CDG1A. F->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11058895;Dbxref=PMID:11058895 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 208_208 213 247 retained Natural variant ID=VAR_006109;Note=In CDG1A. G->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10801058,ECO:0000269|PubMed:11058895;Dbxref=dbSNP:rs398123309,PMID:10801058,PMID:11058895 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 212_212 213 247 retained Natural variant ID=VAR_022134;Note=M->V;Dbxref=dbSNP:rs3743808 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 214_214 213 247 retained Natural variant ID=VAR_022500;Note=In CDG1A. G->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12357336,ECO:0000269|PubMed:15844218;Dbxref=PMID:12357336,PMID:15844218 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 216_216 213 247 retained Natural variant ID=VAR_022501;Note=In CDG1A. N->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11058895,ECO:0000269|PubMed:11058896;Dbxref=dbSNP:rs78290141,PMID:11058895,PMID:11058896 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 216_216 213 247 retained Natural variant ID=VAR_022501;Note=In CDG1A. N->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11058895,ECO:0000269|PubMed:11058896;Dbxref=dbSNP:rs78290141,PMID:11058895,PMID:11058896 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 217_217 213 247 not_retained Natural variant ID=VAR_022502;Note=In CDG1A. D->E;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11058895,ECO:0000269|PubMed:11058896;Dbxref=PMID:11058895,PMID:11058896 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 218_218 213 247 not_retained Natural variant ID=VAR_022503;Note=In CDG1A. H->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11058895;Dbxref=dbSNP:rs80338705,PMID:11058895 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 223_223 213 247 not_retained Natural variant ID=VAR_022504;Note=In CDG1A. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12357336;Dbxref=dbSNP:rs201960869,PMID:12357336 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 223_223 213 247 not_retained Natural variant ID=VAR_022504;Note=In CDG1A. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12357336;Dbxref=dbSNP:rs201960869,PMID:12357336 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 226_226 213 247 not_retained Natural variant ID=VAR_022505;Note=In CDG1A. T->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11058895,ECO:0000269|PubMed:15844218;Dbxref=dbSNP:rs80338706,PMID:11058895,PMID:15844218 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 228_228 213 247 not_retained Natural variant ID=VAR_022507;Note=In CDG1A. G->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11058895,ECO:0000269|PubMed:11058896;Dbxref=dbSNP:rs558826439,PMID:11058895,PMID:11058896 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 228_228 213 247 not_retained Natural variant ID=VAR_022507;Note=In CDG1A. G->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11058895,ECO:0000269|PubMed:11058896;Dbxref=dbSNP:rs558826439,PMID:11058895,PMID:11058896 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 229_229 213 247 not_retained Natural variant ID=VAR_006112;Note=In CDG1A. Y->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10066032,ECO:0000269|PubMed:11058895;Dbxref=dbSNP:rs398123311,PMID:10066032,PMID:11058895 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 231_231 213 247 not_retained Natural variant ID=VAR_006113;Note=In CDG1A. V->M;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10801058,ECO:0000269|PubMed:11058895,ECO:0000269|PubMed:11058896,ECO:0000269|PubMed:15844218,ECO:0000269|PubMed:17307006;Dbxref=dbSNP:rs80338707,PMID:10801058,PMID:11058895,PMID:11058896,PMID:15844218,PMID:17307006 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 233_233 213 247 not_retained Natural variant ID=VAR_006114;Note=In CDG1A%3B unknown pathological significance. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11058895;Dbxref=PMID:11058895 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 237_237 213 247 not_retained Natural variant ID=VAR_022508;Note=In CDG1A%3B loss of activity. T->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10602363,ECO:0000269|PubMed:11058895,ECO:0000269|PubMed:11058896,ECO:0000269|PubMed:15844218;Dbxref=dbSNP:rs80338708,PMID:10602363,PMID:11058895,PMID:11058896,PMID:15844218 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 237_237 213 247 not_retained Natural variant ID=VAR_022508;Note=In CDG1A%3B loss of activity. T->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10602363,ECO:0000269|PubMed:11058895,ECO:0000269|PubMed:11058896,ECO:0000269|PubMed:15844218;Dbxref=dbSNP:rs80338708,PMID:10602363,PMID:11058895,PMID:11058896,PMID:15844218 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 238_238 213 247 not_retained Natural variant ID=VAR_006116;Note=In CDG1A. R->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10066032;Dbxref=dbSNP:rs151319324,PMID:10066032 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 238_238 213 247 not_retained Natural variant ID=VAR_006116;Note=In CDG1A. R->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10066032;Dbxref=dbSNP:rs151319324,PMID:10066032 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 241_241 213 247 not_retained Natural variant ID=VAR_022510;Note=In CDG1A. C->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11058895,ECO:0000269|PubMed:15844218;Dbxref=dbSNP:rs80338709,PMID:11058895,PMID:15844218 Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 6_14 213 247 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2AMY Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 15_17 213 247 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2AMY Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 26_35 213 247 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2AMY Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 36_38 213 247 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2AMY Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 39_44 213 247 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2AMY Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 49_56 213 247 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2AMY Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 60_63 213 247 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2AMY Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 65_69 213 247 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2AMY Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 70_72 213 247 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2AMY Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 74_77 213 247 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2AMY Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 80_84 213 247 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2AMY Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 87_91 213 247 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2AMY Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 93_109 213 247 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2AMY Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 119_123 213 247 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2AMY Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 126_129 213 247 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2AMY Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 138_151 213 247 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2AMY Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 153_164 213 247 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2AMY Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 165_167 213 247 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2AMY Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 170_175 213 247 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2AMY Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 176_178 213 247 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2AMY Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 179_184 213 247 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2AMY Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 189_195 213 247 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2AMY Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 196_198 213 247 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2AMY Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 202_208 213 247 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2AMY Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 219_222 213 247 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2AMY Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 226_230 213 247 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2AMY Hgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000268261 O15305 + 7 8 234_244 213 247 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2AMY Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 1_353 -57 1115 not_retained Chain ID=PRO_0000081836;Note=Heterogeneous nuclear ribonucleoproteins A2/B1 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 21_104 -57 1115 not_retained Domain Note=RRM 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00176 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 112_191 -57 1115 not_retained Domain Note=RRM 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00176 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 193_353 -57 1115 not_retained Region Note=Low complexity (LC) region;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26544936;Dbxref=PMID:26544936 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 308_347 -57 1115 not_retained Region Note=Nuclear targeting sequence;Ontology_term=ECO:0000250;evidence=ECO:0000250 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 9_15 -57 1115 not_retained Motif Note=Nuclear localization signal;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 202_353 -57 1115 not_retained Compositional bias Note=Gly-rich Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 1_1 -57 1115 not_retained Modified residue Note=N-acetylmethionine;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:22814378,ECO:0000269|Ref.6;Dbxref=PMID:22814378 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 4_4 -57 1115 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 29_29 -57 1115 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:23186163,PMID:24275569 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 38_38 -57 1115 not_retained Modified residue Note=Omega-N-methylarginine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O88569 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 85_85 -57 1115 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:24275569;Dbxref=PMID:19690332,PMID:20068231,PMID:24275569 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 104_104 -57 1115 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 140_140 -57 1115 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 149_149 -57 1115 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:20068231;Dbxref=PMID:20068231 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 159_159 -57 1115 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 168_168 -57 1115 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 173_173 -57 1115 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 176_176 -57 1115 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 189_189 -57 1115 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 201_201 -57 1115 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 203_203 -57 1115 not_retained Modified residue Note=Omega-N-methylarginine%3B alternate;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:15782174,ECO:0000244|PubMed:24129315,ECO:0000269|Ref.6;Dbxref=PMID:15782174,PMID:24129315 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 203_203 -57 1115 not_retained Modified residue Note=Omega-N-methylarginine%3B alternate;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:15782174,ECO:0000244|PubMed:24129315,ECO:0000269|Ref.6;Dbxref=PMID:15782174,PMID:24129315 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 203_203 -57 1115 not_retained Modified residue Note=Omega-N-methylarginine%3B alternate;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:15782174,ECO:0000244|PubMed:24129315,ECO:0000269|Ref.6;Dbxref=PMID:15782174,PMID:24129315 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 212_212 -57 1115 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:19690332,PMID:20068231,PMID:21406692,PMID:23186163,PMID:24275569 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 213_213 -57 1115 not_retained Modified residue Note=Omega-N-methylarginine%3B alternate;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:24129315,ECO:0000269|Ref.6;Dbxref=PMID:24129315 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 213_213 -57 1115 not_retained Modified residue Note=Omega-N-methylarginine%3B alternate;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:24129315,ECO:0000269|Ref.6;Dbxref=PMID:24129315 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 213_213 -57 1115 not_retained Modified residue Note=Omega-N-methylarginine%3B alternate;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:24129315,ECO:0000269|Ref.6;Dbxref=PMID:24129315 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 225_225 -57 1115 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:20068231,PMID:21406692,PMID:23186163,PMID:24275569 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 228_228 -57 1115 not_retained Modified residue Note=Omega-N-methylarginine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24129315;Dbxref=PMID:24129315 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 231_231 -57 1115 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:24275569;Dbxref=PMID:20068231,PMID:21406692,PMID:24275569 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 236_236 -57 1115 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:21406692;Dbxref=PMID:21406692 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 238_238 -57 1115 not_retained Modified residue Note=Omega-N-methylarginine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24129315;Dbxref=PMID:24129315 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 259_259 -57 1115 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17924679,ECO:0000244|PubMed:18220336,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:19369195,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163;Dbxref=PMID:17924679,PMID:18220336,PMID:18669648,PMID:18691976,PMID:19369195,PMID:19690332,PMID:20068231,PMID:21406692,PMID:23186163 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 266_266 -57 1115 not_retained Modified residue Note=Omega-N-methylarginine%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24129315;Dbxref=PMID:24129315 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 266_266 -57 1115 not_retained Modified residue Note=Omega-N-methylarginine%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24129315;Dbxref=PMID:24129315 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 324_324 -57 1115 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163;Dbxref=PMID:21406692,PMID:23186163 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 325_325 -57 1115 not_retained Modified residue Note=Omega-N-methylarginine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24129315;Dbxref=PMID:24129315 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 331_331 -57 1115 not_retained Mutagenesis Note=Impairs hydrogel-binding. Y->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26544936;Dbxref=PMID:26544936 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 341_341 -57 1115 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17924679,ECO:0000244|PubMed:18220336,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:17924679,PMID:18220336,PMID:18669648,PMID:20068231,PMID:23186163,PMID:24275569 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 344_344 -57 1115 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:18669648,PMID:19690332,PMID:20068231,PMID:21406692,PMID:23186163,PMID:24275569 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 347_347 -57 1115 not_retained Mutagenesis Note=Does not affect hydrogel-binding. Y->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26544936;Dbxref=PMID:26544936 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 350_350 -57 1115 not_retained Modified residue Note=Omega-N-methylarginine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24129315;Dbxref=PMID:24129315 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 22_22 -57 1115 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 104_104 -57 1115 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 112_112 -57 1115 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 120_120 -57 1115 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:25218447,ECO:0000244|PubMed:25755297,ECO:0000244|PubMed:28112733;Dbxref=PMID:25218447,PMID:25755297,PMID:28112733 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 137_137 -57 1115 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 152_152 -57 1115 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 168_168 -57 1115 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 173_173 -57 1115 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 186_186 -57 1115 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:25218447;Dbxref=PMID:25218447 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 3_14 -57 1115 not_retained Alternative sequence ID=VSP_005830;Note=In isoform A2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:2557628;Dbxref=PMID:2557628 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 302_302 -57 1115 not_retained Natural variant ID=VAR_070591;Note=In IBMPFD2. D->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23455423;Dbxref=dbSNP:rs397515326,PMID:23455423 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 207_207 -57 1115 not_retained Mutagenesis Note=Does not affect hydrogel-binding. F->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26544936;Dbxref=PMID:26544936 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 209_209 -57 1115 not_retained Mutagenesis Note=Does not affect hydrogel-binding. F->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26544936;Dbxref=PMID:26544936 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 219_219 -57 1115 not_retained Mutagenesis Note=Does not affect hydrogel-binding. F->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26544936;Dbxref=PMID:26544936 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 227_227 -57 1115 not_retained Mutagenesis Note=Does not affect hydrogel-binding. F->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26544936;Dbxref=PMID:26544936 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 234_234 -57 1115 not_retained Mutagenesis Note=Does not affect hydrogel-binding. Y->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26544936;Dbxref=PMID:26544936 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 240_240 -57 1115 not_retained Mutagenesis Note=Does not affect hydrogel-binding. F->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26544936;Dbxref=PMID:26544936 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 244_244 -57 1115 not_retained Mutagenesis Note=Does not affect hydrogel-binding. Y->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26544936;Dbxref=PMID:26544936 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 247_247 -57 1115 not_retained Mutagenesis Note=Slightly affects hydrogel-binding. Y->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26544936;Dbxref=PMID:26544936 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 256_256 -57 1115 not_retained Mutagenesis Note=Does not affect hydrogel-binding. F->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26544936;Dbxref=PMID:26544936 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 262_262 -57 1115 not_retained Mutagenesis Note=Slightly affects hydrogel-binding. Y->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26544936;Dbxref=PMID:26544936 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 269_269 -57 1115 not_retained Mutagenesis Note=Does not affect hydrogel-binding. Y->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26544936;Dbxref=PMID:26544936 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 276_276 -57 1115 not_retained Mutagenesis Note=Impairs hydrogel-binding. Y->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26544936;Dbxref=PMID:26544936 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 283_283 -57 1115 not_retained Mutagenesis Note=Slightly affects hydrogel-binding. Y->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26544936;Dbxref=PMID:26544936 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 287_287 -57 1115 not_retained Mutagenesis Note=Does not affect hydrogel-binding. Y->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26544936;Dbxref=PMID:26544936 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 290_290 -57 1115 not_retained Mutagenesis Note=Impairs hydrogel-binding. Y->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26544936;Dbxref=PMID:26544936 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 295_295 -57 1115 not_retained Mutagenesis Note=Impairs hydrogel-binding. Y->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26544936;Dbxref=PMID:26544936 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 300_300 -57 1115 not_retained Mutagenesis Note=Slightly affects hydrogel-binding. Y->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26544936;Dbxref=PMID:26544936 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 303_303 -57 1115 not_retained Mutagenesis Note=Impairs hydrogel-binding. F->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26544936;Dbxref=PMID:26544936 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 306_306 -57 1115 not_retained Mutagenesis Note=Slightly affects hydrogel-binding. Y->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26544936;Dbxref=PMID:26544936 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 313_313 -57 1115 not_retained Mutagenesis Note=Slightly affects hydrogel-binding. Y->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26544936;Dbxref=PMID:26544936 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 321_321 -57 1115 not_retained Mutagenesis Note=Impairs hydrogel-binding. F->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26544936;Dbxref=PMID:26544936 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 331_331 -57 1115 not_retained Mutagenesis Note=Impairs hydrogel-binding. Y->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26544936;Dbxref=PMID:26544936 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 336_336 -57 1115 not_retained Mutagenesis Note=Slightly affects hydrogel-binding. Y->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26544936;Dbxref=PMID:26544936 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 347_347 -57 1115 not_retained Mutagenesis Note=Does not affect hydrogel-binding. Y->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26544936;Dbxref=PMID:26544936 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 353_353 -57 1115 not_retained Mutagenesis Note=Does not affect hydrogel-binding. Y->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26544936;Dbxref=PMID:26544936 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 205_205 -57 1115 not_retained Sequence conflict Note=G->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 18_21 -57 1115 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HO4 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 22_27 -57 1115 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HO4 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 34_41 -57 1115 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HO4 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 42_44 -57 1115 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HO4 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 47_54 -57 1115 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HO4 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 56_58 -57 1115 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HO4 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 61_71 -57 1115 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HO4 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 72_80 -57 1115 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HO4 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 83_86 -57 1115 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1X4B Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 92_95 -57 1115 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HO4 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 99_101 -57 1115 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HO4 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 105_108 -57 1115 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HO4 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 112_117 -57 1115 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HO4 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 120_122 -57 1115 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WWG Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 125_132 -57 1115 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HO4 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 133_135 -57 1115 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HO4 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 138_145 -57 1115 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HO4 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 147_149 -57 1115 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HO4 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 152_163 -57 1115 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HO4 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 164_169 -57 1115 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HO4 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 174_177 -57 1115 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HO4 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 180_186 -57 1115 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HO4 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000354667 P22626 - 1 12 190_192 -57 1115 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HO4 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 1_353 -57 439 not_retained Chain ID=PRO_0000081836;Note=Heterogeneous nuclear ribonucleoproteins A2/B1 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 21_104 -57 439 not_retained Domain Note=RRM 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00176 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 112_191 -57 439 not_retained Domain Note=RRM 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00176 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 193_353 -57 439 not_retained Region Note=Low complexity (LC) region;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26544936;Dbxref=PMID:26544936 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 308_347 -57 439 not_retained Region Note=Nuclear targeting sequence;Ontology_term=ECO:0000250;evidence=ECO:0000250 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 9_15 -57 439 not_retained Motif Note=Nuclear localization signal;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 202_353 -57 439 not_retained Compositional bias Note=Gly-rich Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 1_1 -57 439 not_retained Modified residue Note=N-acetylmethionine;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:22814378,ECO:0000269|Ref.6;Dbxref=PMID:22814378 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 4_4 -57 439 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 29_29 -57 439 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:23186163,PMID:24275569 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 38_38 -57 439 not_retained Modified residue Note=Omega-N-methylarginine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O88569 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 85_85 -57 439 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:24275569;Dbxref=PMID:19690332,PMID:20068231,PMID:24275569 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 104_104 -57 439 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 140_140 -57 439 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 149_149 -57 439 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:20068231;Dbxref=PMID:20068231 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 159_159 -57 439 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 168_168 -57 439 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 173_173 -57 439 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 176_176 -57 439 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 189_189 -57 439 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 201_201 -57 439 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 203_203 -57 439 not_retained Modified residue Note=Omega-N-methylarginine%3B alternate;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:15782174,ECO:0000244|PubMed:24129315,ECO:0000269|Ref.6;Dbxref=PMID:15782174,PMID:24129315 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 203_203 -57 439 not_retained Modified residue Note=Omega-N-methylarginine%3B alternate;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:15782174,ECO:0000244|PubMed:24129315,ECO:0000269|Ref.6;Dbxref=PMID:15782174,PMID:24129315 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 203_203 -57 439 not_retained Modified residue Note=Omega-N-methylarginine%3B alternate;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:15782174,ECO:0000244|PubMed:24129315,ECO:0000269|Ref.6;Dbxref=PMID:15782174,PMID:24129315 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 212_212 -57 439 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:19690332,PMID:20068231,PMID:21406692,PMID:23186163,PMID:24275569 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 213_213 -57 439 not_retained Modified residue Note=Omega-N-methylarginine%3B alternate;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:24129315,ECO:0000269|Ref.6;Dbxref=PMID:24129315 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 213_213 -57 439 not_retained Modified residue Note=Omega-N-methylarginine%3B alternate;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:24129315,ECO:0000269|Ref.6;Dbxref=PMID:24129315 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 213_213 -57 439 not_retained Modified residue Note=Omega-N-methylarginine%3B alternate;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:24129315,ECO:0000269|Ref.6;Dbxref=PMID:24129315 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 225_225 -57 439 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:20068231,PMID:21406692,PMID:23186163,PMID:24275569 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 228_228 -57 439 not_retained Modified residue Note=Omega-N-methylarginine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24129315;Dbxref=PMID:24129315 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 231_231 -57 439 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:24275569;Dbxref=PMID:20068231,PMID:21406692,PMID:24275569 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 236_236 -57 439 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:21406692;Dbxref=PMID:21406692 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 238_238 -57 439 not_retained Modified residue Note=Omega-N-methylarginine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24129315;Dbxref=PMID:24129315 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 259_259 -57 439 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17924679,ECO:0000244|PubMed:18220336,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:19369195,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163;Dbxref=PMID:17924679,PMID:18220336,PMID:18669648,PMID:18691976,PMID:19369195,PMID:19690332,PMID:20068231,PMID:21406692,PMID:23186163 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 266_266 -57 439 not_retained Modified residue Note=Omega-N-methylarginine%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24129315;Dbxref=PMID:24129315 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 266_266 -57 439 not_retained Modified residue Note=Omega-N-methylarginine%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24129315;Dbxref=PMID:24129315 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 324_324 -57 439 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163;Dbxref=PMID:21406692,PMID:23186163 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 325_325 -57 439 not_retained Modified residue Note=Omega-N-methylarginine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24129315;Dbxref=PMID:24129315 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 331_331 -57 439 not_retained Mutagenesis Note=Impairs hydrogel-binding. Y->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26544936;Dbxref=PMID:26544936 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 341_341 -57 439 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17924679,ECO:0000244|PubMed:18220336,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:17924679,PMID:18220336,PMID:18669648,PMID:20068231,PMID:23186163,PMID:24275569 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 344_344 -57 439 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:18669648,PMID:19690332,PMID:20068231,PMID:21406692,PMID:23186163,PMID:24275569 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 347_347 -57 439 not_retained Mutagenesis Note=Does not affect hydrogel-binding. Y->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26544936;Dbxref=PMID:26544936 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 350_350 -57 439 not_retained Modified residue Note=Omega-N-methylarginine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24129315;Dbxref=PMID:24129315 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 22_22 -57 439 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 104_104 -57 439 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 112_112 -57 439 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 120_120 -57 439 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:25218447,ECO:0000244|PubMed:25755297,ECO:0000244|PubMed:28112733;Dbxref=PMID:25218447,PMID:25755297,PMID:28112733 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 137_137 -57 439 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 152_152 -57 439 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 168_168 -57 439 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 173_173 -57 439 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 186_186 -57 439 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:25218447;Dbxref=PMID:25218447 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 3_14 -57 439 not_retained Alternative sequence ID=VSP_005830;Note=In isoform A2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:2557628;Dbxref=PMID:2557628 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 302_302 -57 439 not_retained Natural variant ID=VAR_070591;Note=In IBMPFD2. D->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23455423;Dbxref=dbSNP:rs397515326,PMID:23455423 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 207_207 -57 439 not_retained Mutagenesis Note=Does not affect hydrogel-binding. F->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26544936;Dbxref=PMID:26544936 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 209_209 -57 439 not_retained Mutagenesis Note=Does not affect hydrogel-binding. F->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26544936;Dbxref=PMID:26544936 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 219_219 -57 439 not_retained Mutagenesis Note=Does not affect hydrogel-binding. F->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26544936;Dbxref=PMID:26544936 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 227_227 -57 439 not_retained Mutagenesis Note=Does not affect hydrogel-binding. F->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26544936;Dbxref=PMID:26544936 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 234_234 -57 439 not_retained Mutagenesis Note=Does not affect hydrogel-binding. Y->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26544936;Dbxref=PMID:26544936 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 240_240 -57 439 not_retained Mutagenesis Note=Does not affect hydrogel-binding. F->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26544936;Dbxref=PMID:26544936 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 244_244 -57 439 not_retained Mutagenesis Note=Does not affect hydrogel-binding. Y->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26544936;Dbxref=PMID:26544936 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 247_247 -57 439 not_retained Mutagenesis Note=Slightly affects hydrogel-binding. Y->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26544936;Dbxref=PMID:26544936 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 256_256 -57 439 not_retained Mutagenesis Note=Does not affect hydrogel-binding. F->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26544936;Dbxref=PMID:26544936 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 262_262 -57 439 not_retained Mutagenesis Note=Slightly affects hydrogel-binding. Y->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26544936;Dbxref=PMID:26544936 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 269_269 -57 439 not_retained Mutagenesis Note=Does not affect hydrogel-binding. Y->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26544936;Dbxref=PMID:26544936 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 276_276 -57 439 not_retained Mutagenesis Note=Impairs hydrogel-binding. Y->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26544936;Dbxref=PMID:26544936 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 283_283 -57 439 not_retained Mutagenesis Note=Slightly affects hydrogel-binding. Y->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26544936;Dbxref=PMID:26544936 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 287_287 -57 439 not_retained Mutagenesis Note=Does not affect hydrogel-binding. Y->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26544936;Dbxref=PMID:26544936 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 290_290 -57 439 not_retained Mutagenesis Note=Impairs hydrogel-binding. Y->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26544936;Dbxref=PMID:26544936 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 295_295 -57 439 not_retained Mutagenesis Note=Impairs hydrogel-binding. Y->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26544936;Dbxref=PMID:26544936 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 300_300 -57 439 not_retained Mutagenesis Note=Slightly affects hydrogel-binding. Y->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26544936;Dbxref=PMID:26544936 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 303_303 -57 439 not_retained Mutagenesis Note=Impairs hydrogel-binding. F->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26544936;Dbxref=PMID:26544936 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 306_306 -57 439 not_retained Mutagenesis Note=Slightly affects hydrogel-binding. Y->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26544936;Dbxref=PMID:26544936 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 313_313 -57 439 not_retained Mutagenesis Note=Slightly affects hydrogel-binding. Y->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26544936;Dbxref=PMID:26544936 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 321_321 -57 439 not_retained Mutagenesis Note=Impairs hydrogel-binding. F->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26544936;Dbxref=PMID:26544936 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 331_331 -57 439 not_retained Mutagenesis Note=Impairs hydrogel-binding. Y->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26544936;Dbxref=PMID:26544936 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 336_336 -57 439 not_retained Mutagenesis Note=Slightly affects hydrogel-binding. Y->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26544936;Dbxref=PMID:26544936 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 347_347 -57 439 not_retained Mutagenesis Note=Does not affect hydrogel-binding. Y->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26544936;Dbxref=PMID:26544936 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 353_353 -57 439 not_retained Mutagenesis Note=Does not affect hydrogel-binding. Y->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26544936;Dbxref=PMID:26544936 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 205_205 -57 439 not_retained Sequence conflict Note=G->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 18_21 -57 439 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HO4 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 22_27 -57 439 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HO4 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 34_41 -57 439 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HO4 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 42_44 -57 439 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HO4 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 47_54 -57 439 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HO4 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 56_58 -57 439 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HO4 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 61_71 -57 439 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HO4 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 72_80 -57 439 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HO4 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 83_86 -57 439 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1X4B Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 92_95 -57 439 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HO4 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 99_101 -57 439 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HO4 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 105_108 -57 439 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HO4 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 112_117 -57 439 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HO4 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 120_122 -57 439 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WWG Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 125_132 -57 439 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HO4 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 133_135 -57 439 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HO4 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 138_145 -57 439 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HO4 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 147_149 -57 439 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HO4 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 152_163 -57 439 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HO4 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 164_169 -57 439 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HO4 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 174_177 -57 439 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HO4 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 180_186 -57 439 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HO4 Hgene intron-3CDS BF800892 ChiTaRS HNRNPA2B1 chr7:26236477 AATF chr17:35310229 ENST00000356674 P22626 - 1 11 190_192 -57 439 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HO4 Hgene In-frame BC016017 ChiTaRS ERICH1 chr8:618598 ERICH1 chr8:624048 ENST00000262109 Q86X53 - 5 6 1_443 419 444 not_retained Chain ID=PRO_0000087029;Note=Glutamate-rich protein 1 Hgene In-frame BC016017 ChiTaRS ERICH1 chr8:618598 ERICH1 chr8:624048 ENST00000262109 Q86X53 - 5 6 193_328 419 444 retained Compositional bias Note=Glu-rich Hgene In-frame BC016017 ChiTaRS ERICH1 chr8:618598 ERICH1 chr8:624048 ENST00000262109 Q86X53 - 5 6 12_12 419 444 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Hgene In-frame BC016017 ChiTaRS ERICH1 chr8:618598 ERICH1 chr8:624048 ENST00000262109 Q86X53 - 5 6 238_238 419 444 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:19690332,PMID:20068231,PMID:21406692,PMID:23186163 Hgene In-frame BC016017 ChiTaRS ERICH1 chr8:618598 ERICH1 chr8:624048 ENST00000262109 Q86X53 - 5 6 254_254 419 444 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163;Dbxref=PMID:21406692,PMID:23186163 Hgene In-frame BC016017 ChiTaRS ERICH1 chr8:618598 ERICH1 chr8:624048 ENST00000262109 Q86X53 - 5 6 277_277 419 444 retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19690332;Dbxref=PMID:19690332 Hgene In-frame BC016017 ChiTaRS ERICH1 chr8:618598 ERICH1 chr8:624048 ENST00000262109 Q86X53 - 5 6 365_365 419 444 retained Natural variant ID=VAR_035915;Note=In a colorectal cancer sample%3B somatic mutation. L->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16959974;Dbxref=dbSNP:rs774405503,PMID:16959974 Hgene In-frame BC016017 ChiTaRS ERICH1 chr8:618598 ERICH1 chr8:624048 ENST00000262109 Q86X53 - 5 6 403_403 419 444 retained Natural variant ID=VAR_050974;Note=R->S;Dbxref=dbSNP:rs1703879 Hgene In-frame BC016017 ChiTaRS ERICH1 chr8:618598 ERICH1 chr8:624048 ENST00000262109 Q86X53 - 5 6 3_3 419 444 retained Sequence conflict Note=A->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368533 P06753 - 7 8 1_1 221 249 retained Initiator methionine Note=Removed;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P58776 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368533 P06753 - 7 8 2_285 221 249 not_retained Chain ID=PRO_0000205632;Note=Tropomyosin alpha-3 chain Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368533 P06753 - 7 8 1_285 221 249 not_retained Coiled coil Ontology_term=ECO:0000250;evidence=ECO:0000250 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368533 P06753 - 7 8 2_2 221 249 retained Modified residue Note=N-acetylmethionine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P58776 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368533 P06753 - 7 8 54_54 221 249 retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P07951 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368533 P06753 - 7 8 62_62 221 249 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P58774 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368533 P06753 - 7 8 88_88 221 249 retained Natural variant ID=VAR_071500;Note=In NEM1 and CAPM1. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24692096;Dbxref=PMID:24692096 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368533 P06753 - 7 8 109_109 221 249 retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P07951 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368533 P06753 - 7 8 207_207 221 249 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P07951 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368533 P06753 - 7 8 216_216 221 249 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P58775 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368533 P06753 - 7 8 253_253 221 249 not_retained Natural variant ID=VAR_071509;Note=Probable disease-associated mutation found in patients with undefined congenital myopathy. T->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24692096;Dbxref=PMID:24692096 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368533 P06753 - 7 8 262_262 221 249 not_retained Modified residue Note=Phosphotyrosine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P58775 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368533 P06753 - 7 8 272_272 221 249 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P21107 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368533 P06753 - 7 8 283_283 221 249 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P07951 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368533 P06753 - 7 8 284_284 221 249 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P21107 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368533 P06753 - 7 8 1_127 221 249 retained Alternative sequence ID=VSP_054792;Note=In isoform 7. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368533 P06753 - 7 8 1_81 221 249 retained Alternative sequence ID=VSP_006604;Note=In isoform 2%2C isoform 3 and isoform 6. MMEAIKKKMQMLKLDKENALDRAEQAEAEQKQAEERSKQLEDELAAMQKKLKGTEDELDKYSEALKDAQEKLELAEKKAAD->MAGITTIEAVKRKIQVLQQQADDAEERAERLQREVEGERRAREQ;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:3024106;Dbxref=PMID:15489334,PMID:3024106 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368533 P06753 - 7 8 1_2 221 249 retained Alternative sequence ID=VSP_047302;Note=In isoform 4 and isoform 5. MM->MAGITTI;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368533 P06753 - 7 8 5_21 221 249 retained Alternative sequence ID=VSP_047303;Note=In isoform 4 and isoform 5. IKKKMQMLKLDKENALD->VKRKIQVLQQQADDAEE;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368533 P06753 - 7 8 25_81 221 249 retained Alternative sequence ID=VSP_047304;Note=In isoform 4 and isoform 5. QAEAEQKQAEERSKQLEDELAAMQKKLKGTEDELDKYSEALKDAQEKLELAEKKAAD->RLQREVEGERRAREQ;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368533 P06753 - 7 8 190_212 221 249 retained Alternative sequence ID=VSP_006605;Note=In isoform 2%2C isoform 3 and isoform 6. KCSELEEELKNVTNNLKSLEAQA->RCREMDEQIRLMDQNLKCLSAAE;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:3024106;Dbxref=PMID:15489334,PMID:3024106 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368533 P06753 - 7 8 259_285 221 249 not_retained Alternative sequence ID=VSP_006607;Note=In isoform 3. DELYAQKLKYKAISEELDHALNDMTSI->ERLYSQLERNRLLSNELKLTLHDLCD;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368533 P06753 - 7 8 259_260 221 249 not_retained Alternative sequence ID=VSP_047305;Note=In isoform 4. DE->ER;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368533 P06753 - 7 8 260_285 221 249 not_retained Alternative sequence ID=VSP_006606;Note=In isoform 2%2C isoform 5 and isoform 7. ELYAQKLKYKAISEELDHALNDMTSI->KLKCTKEEHLCTQRMLDQTLLDLNEM;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:3024106;Dbxref=PMID:15489334,PMID:3024106 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368533 P06753 - 7 8 263_285 221 249 not_retained Alternative sequence ID=VSP_047306;Note=In isoform 4. AQKLKYKAISEELDHALNDMTSI->SQLERNRLLSNELKLTLHDLCD;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368533 P06753 - 7 8 4_4 221 249 retained Natural variant ID=VAR_071499;Note=In CFTD. A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19953533;Dbxref=dbSNP:rs199474711,PMID:19953533 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368533 P06753 - 7 8 9_9 221 249 retained Natural variant ID=VAR_013460;Note=In NEM1%3B decrease in the sensitivity of contraction to activating calcium. M->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10587521,ECO:0000269|PubMed:7704029;Dbxref=dbSNP:rs80358247,PMID:10587521,PMID:7704029 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368533 P06753 - 7 8 88_88 221 249 retained Natural variant ID=VAR_071500;Note=In NEM1 and CAPM1. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24692096;Dbxref=PMID:24692096 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368533 P06753 - 7 8 91_91 221 249 retained Natural variant ID=VAR_071502;Note=In CFTD. R->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19953533;Dbxref=dbSNP:rs199474713,PMID:19953533 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368533 P06753 - 7 8 91_91 221 249 retained Natural variant ID=VAR_071502;Note=In CFTD. R->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19953533;Dbxref=dbSNP:rs199474713,PMID:19953533 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368533 P06753 - 7 8 100_100 221 249 retained Natural variant ID=VAR_071503;Note=In CFTD. L->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24692096;Dbxref=PMID:24692096 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368533 P06753 - 7 8 100_100 221 249 retained Natural variant ID=VAR_071503;Note=In CFTD. L->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24692096;Dbxref=PMID:24692096 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368533 P06753 - 7 8 149_149 221 249 retained Natural variant ID=VAR_071504;Note=In CAPM1. L->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24239060;Dbxref=PMID:24239060 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368533 P06753 - 7 8 151_151 221 249 retained Natural variant ID=VAR_071505;Note=In CAPM1. E->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24692096;Dbxref=PMID:24692096 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368533 P06753 - 7 8 168_168 221 249 retained Natural variant ID=VAR_070069;Note=In NEM1%2C CAPM1 and CFTD%3B also found in patients with undefined congenital myopathy. R->H;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17376686,ECO:0000269|PubMed:18300303,ECO:0000269|PubMed:19553118,ECO:0000269|PubMed:19953533,ECO:0000269|PubMed:20951040,ECO:0000269|PubMed:24692096;Dbxref=dbSNP:rs121964852,PMID:17376686,PMID:18300303,PMID:19553118,PMID:19953533,PMID:20951040,PMID:24692096 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368533 P06753 - 7 8 168_168 221 249 retained Natural variant ID=VAR_070069;Note=In NEM1%2C CAPM1 and CFTD%3B also found in patients with undefined congenital myopathy. R->H;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17376686,ECO:0000269|PubMed:18300303,ECO:0000269|PubMed:19553118,ECO:0000269|PubMed:19953533,ECO:0000269|PubMed:20951040,ECO:0000269|PubMed:24692096;Dbxref=dbSNP:rs121964852,PMID:17376686,PMID:18300303,PMID:19553118,PMID:19953533,PMID:20951040,PMID:24692096 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368533 P06753 - 7 8 168_168 221 249 retained Natural variant ID=VAR_070069;Note=In NEM1%2C CAPM1 and CFTD%3B also found in patients with undefined congenital myopathy. R->H;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17376686,ECO:0000269|PubMed:18300303,ECO:0000269|PubMed:19553118,ECO:0000269|PubMed:19953533,ECO:0000269|PubMed:20951040,ECO:0000269|PubMed:24692096;Dbxref=dbSNP:rs121964852,PMID:17376686,PMID:18300303,PMID:19553118,PMID:19953533,PMID:20951040,PMID:24692096 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368533 P06753 - 7 8 169_169 221 249 retained Natural variant ID=VAR_070070;Note=In CFTD. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18300303;Dbxref=dbSNP:rs199474715,PMID:18300303 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368533 P06753 - 7 8 174_174 221 249 retained Natural variant ID=VAR_071506;Note=In CFTD. E->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20951040;Dbxref=dbSNP:rs199474716,PMID:20951040 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368533 P06753 - 7 8 241_241 221 249 not_retained Natural variant ID=VAR_071507;Note=In CFTD. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19953533;Dbxref=dbSNP:rs199474717,PMID:19953533 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368533 P06753 - 7 8 245_245 221 249 not_retained Natural variant ID=VAR_071508;Note=In CAPM1. R->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24692096;Dbxref=dbSNP:rs797046047,PMID:24692096 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368533 P06753 - 7 8 245_245 221 249 not_retained Natural variant ID=VAR_071508;Note=In CAPM1. R->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24692096;Dbxref=dbSNP:rs797046047,PMID:24692096 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368533 P06753 - 7 8 253_253 221 249 not_retained Natural variant ID=VAR_071509;Note=Probable disease-associated mutation found in patients with undefined congenital myopathy. T->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24692096;Dbxref=PMID:24692096 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368533 P06753 - 7 8 150_150 221 249 retained Sequence conflict Note=K->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000330188 P06753 - 7 8 1_1 221 249 retained Initiator methionine Note=Removed;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P58776 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000330188 P06753 - 7 8 2_285 221 249 not_retained Chain ID=PRO_0000205632;Note=Tropomyosin alpha-3 chain Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000330188 P06753 - 7 8 1_285 221 249 not_retained Coiled coil Ontology_term=ECO:0000250;evidence=ECO:0000250 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000330188 P06753 - 7 8 2_2 221 249 retained Modified residue Note=N-acetylmethionine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P58776 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000330188 P06753 - 7 8 54_54 221 249 retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P07951 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000330188 P06753 - 7 8 62_62 221 249 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P58774 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000330188 P06753 - 7 8 88_88 221 249 retained Natural variant ID=VAR_071500;Note=In NEM1 and CAPM1. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24692096;Dbxref=PMID:24692096 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000330188 P06753 - 7 8 109_109 221 249 retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P07951 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000330188 P06753 - 7 8 207_207 221 249 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P07951 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000330188 P06753 - 7 8 216_216 221 249 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P58775 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000330188 P06753 - 7 8 253_253 221 249 not_retained Natural variant ID=VAR_071509;Note=Probable disease-associated mutation found in patients with undefined congenital myopathy. T->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24692096;Dbxref=PMID:24692096 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000330188 P06753 - 7 8 262_262 221 249 not_retained Modified residue Note=Phosphotyrosine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P58775 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000330188 P06753 - 7 8 272_272 221 249 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P21107 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000330188 P06753 - 7 8 283_283 221 249 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P07951 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000330188 P06753 - 7 8 284_284 221 249 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P21107 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000330188 P06753 - 7 8 1_127 221 249 retained Alternative sequence ID=VSP_054792;Note=In isoform 7. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000330188 P06753 - 7 8 1_81 221 249 retained Alternative sequence ID=VSP_006604;Note=In isoform 2%2C isoform 3 and isoform 6. MMEAIKKKMQMLKLDKENALDRAEQAEAEQKQAEERSKQLEDELAAMQKKLKGTEDELDKYSEALKDAQEKLELAEKKAAD->MAGITTIEAVKRKIQVLQQQADDAEERAERLQREVEGERRAREQ;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:3024106;Dbxref=PMID:15489334,PMID:3024106 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000330188 P06753 - 7 8 1_2 221 249 retained Alternative sequence ID=VSP_047302;Note=In isoform 4 and isoform 5. MM->MAGITTI;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000330188 P06753 - 7 8 5_21 221 249 retained Alternative sequence ID=VSP_047303;Note=In isoform 4 and isoform 5. IKKKMQMLKLDKENALD->VKRKIQVLQQQADDAEE;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000330188 P06753 - 7 8 25_81 221 249 retained Alternative sequence ID=VSP_047304;Note=In isoform 4 and isoform 5. QAEAEQKQAEERSKQLEDELAAMQKKLKGTEDELDKYSEALKDAQEKLELAEKKAAD->RLQREVEGERRAREQ;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000330188 P06753 - 7 8 190_212 221 249 retained Alternative sequence ID=VSP_006605;Note=In isoform 2%2C isoform 3 and isoform 6. KCSELEEELKNVTNNLKSLEAQA->RCREMDEQIRLMDQNLKCLSAAE;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:3024106;Dbxref=PMID:15489334,PMID:3024106 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000330188 P06753 - 7 8 259_285 221 249 not_retained Alternative sequence ID=VSP_006607;Note=In isoform 3. DELYAQKLKYKAISEELDHALNDMTSI->ERLYSQLERNRLLSNELKLTLHDLCD;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000330188 P06753 - 7 8 259_260 221 249 not_retained Alternative sequence ID=VSP_047305;Note=In isoform 4. DE->ER;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000330188 P06753 - 7 8 260_285 221 249 not_retained Alternative sequence ID=VSP_006606;Note=In isoform 2%2C isoform 5 and isoform 7. ELYAQKLKYKAISEELDHALNDMTSI->KLKCTKEEHLCTQRMLDQTLLDLNEM;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:3024106;Dbxref=PMID:15489334,PMID:3024106 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000330188 P06753 - 7 8 263_285 221 249 not_retained Alternative sequence ID=VSP_047306;Note=In isoform 4. AQKLKYKAISEELDHALNDMTSI->SQLERNRLLSNELKLTLHDLCD;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000330188 P06753 - 7 8 4_4 221 249 retained Natural variant ID=VAR_071499;Note=In CFTD. A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19953533;Dbxref=dbSNP:rs199474711,PMID:19953533 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000330188 P06753 - 7 8 9_9 221 249 retained Natural variant ID=VAR_013460;Note=In NEM1%3B decrease in the sensitivity of contraction to activating calcium. M->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10587521,ECO:0000269|PubMed:7704029;Dbxref=dbSNP:rs80358247,PMID:10587521,PMID:7704029 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000330188 P06753 - 7 8 88_88 221 249 retained Natural variant ID=VAR_071500;Note=In NEM1 and CAPM1. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24692096;Dbxref=PMID:24692096 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000330188 P06753 - 7 8 91_91 221 249 retained Natural variant ID=VAR_071502;Note=In CFTD. R->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19953533;Dbxref=dbSNP:rs199474713,PMID:19953533 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000330188 P06753 - 7 8 91_91 221 249 retained Natural variant ID=VAR_071502;Note=In CFTD. R->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19953533;Dbxref=dbSNP:rs199474713,PMID:19953533 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000330188 P06753 - 7 8 100_100 221 249 retained Natural variant ID=VAR_071503;Note=In CFTD. L->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24692096;Dbxref=PMID:24692096 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000330188 P06753 - 7 8 100_100 221 249 retained Natural variant ID=VAR_071503;Note=In CFTD. L->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24692096;Dbxref=PMID:24692096 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000330188 P06753 - 7 8 149_149 221 249 retained Natural variant ID=VAR_071504;Note=In CAPM1. L->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24239060;Dbxref=PMID:24239060 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000330188 P06753 - 7 8 151_151 221 249 retained Natural variant ID=VAR_071505;Note=In CAPM1. E->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24692096;Dbxref=PMID:24692096 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000330188 P06753 - 7 8 168_168 221 249 retained Natural variant ID=VAR_070069;Note=In NEM1%2C CAPM1 and CFTD%3B also found in patients with undefined congenital myopathy. R->H;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17376686,ECO:0000269|PubMed:18300303,ECO:0000269|PubMed:19553118,ECO:0000269|PubMed:19953533,ECO:0000269|PubMed:20951040,ECO:0000269|PubMed:24692096;Dbxref=dbSNP:rs121964852,PMID:17376686,PMID:18300303,PMID:19553118,PMID:19953533,PMID:20951040,PMID:24692096 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000330188 P06753 - 7 8 168_168 221 249 retained Natural variant ID=VAR_070069;Note=In NEM1%2C CAPM1 and CFTD%3B also found in patients with undefined congenital myopathy. R->H;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17376686,ECO:0000269|PubMed:18300303,ECO:0000269|PubMed:19553118,ECO:0000269|PubMed:19953533,ECO:0000269|PubMed:20951040,ECO:0000269|PubMed:24692096;Dbxref=dbSNP:rs121964852,PMID:17376686,PMID:18300303,PMID:19553118,PMID:19953533,PMID:20951040,PMID:24692096 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000330188 P06753 - 7 8 168_168 221 249 retained Natural variant ID=VAR_070069;Note=In NEM1%2C CAPM1 and CFTD%3B also found in patients with undefined congenital myopathy. R->H;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17376686,ECO:0000269|PubMed:18300303,ECO:0000269|PubMed:19553118,ECO:0000269|PubMed:19953533,ECO:0000269|PubMed:20951040,ECO:0000269|PubMed:24692096;Dbxref=dbSNP:rs121964852,PMID:17376686,PMID:18300303,PMID:19553118,PMID:19953533,PMID:20951040,PMID:24692096 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000330188 P06753 - 7 8 169_169 221 249 retained Natural variant ID=VAR_070070;Note=In CFTD. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18300303;Dbxref=dbSNP:rs199474715,PMID:18300303 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000330188 P06753 - 7 8 174_174 221 249 retained Natural variant ID=VAR_071506;Note=In CFTD. E->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20951040;Dbxref=dbSNP:rs199474716,PMID:20951040 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000330188 P06753 - 7 8 241_241 221 249 not_retained Natural variant ID=VAR_071507;Note=In CFTD. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19953533;Dbxref=dbSNP:rs199474717,PMID:19953533 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000330188 P06753 - 7 8 245_245 221 249 not_retained Natural variant ID=VAR_071508;Note=In CAPM1. R->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24692096;Dbxref=dbSNP:rs797046047,PMID:24692096 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000330188 P06753 - 7 8 245_245 221 249 not_retained Natural variant ID=VAR_071508;Note=In CAPM1. R->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24692096;Dbxref=dbSNP:rs797046047,PMID:24692096 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000330188 P06753 - 7 8 253_253 221 249 not_retained Natural variant ID=VAR_071509;Note=Probable disease-associated mutation found in patients with undefined congenital myopathy. T->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24692096;Dbxref=PMID:24692096 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000330188 P06753 - 7 8 150_150 221 249 retained Sequence conflict Note=K->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368531 P06753 - 7 8 1_1 221 248 retained Initiator methionine Note=Removed;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P58776 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368531 P06753 - 7 8 2_285 221 248 not_retained Chain ID=PRO_0000205632;Note=Tropomyosin alpha-3 chain Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368531 P06753 - 7 8 1_285 221 248 not_retained Coiled coil Ontology_term=ECO:0000250;evidence=ECO:0000250 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368531 P06753 - 7 8 2_2 221 248 retained Modified residue Note=N-acetylmethionine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P58776 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368531 P06753 - 7 8 54_54 221 248 retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P07951 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368531 P06753 - 7 8 62_62 221 248 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P58774 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368531 P06753 - 7 8 88_88 221 248 retained Natural variant ID=VAR_071500;Note=In NEM1 and CAPM1. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24692096;Dbxref=PMID:24692096 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368531 P06753 - 7 8 109_109 221 248 retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P07951 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368531 P06753 - 7 8 207_207 221 248 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P07951 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368531 P06753 - 7 8 216_216 221 248 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P58775 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368531 P06753 - 7 8 253_253 221 248 not_retained Natural variant ID=VAR_071509;Note=Probable disease-associated mutation found in patients with undefined congenital myopathy. T->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24692096;Dbxref=PMID:24692096 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368531 P06753 - 7 8 262_262 221 248 not_retained Modified residue Note=Phosphotyrosine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P58775 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368531 P06753 - 7 8 272_272 221 248 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P21107 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368531 P06753 - 7 8 283_283 221 248 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P07951 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368531 P06753 - 7 8 284_284 221 248 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P21107 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368531 P06753 - 7 8 1_127 221 248 retained Alternative sequence ID=VSP_054792;Note=In isoform 7. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368531 P06753 - 7 8 1_81 221 248 retained Alternative sequence ID=VSP_006604;Note=In isoform 2%2C isoform 3 and isoform 6. MMEAIKKKMQMLKLDKENALDRAEQAEAEQKQAEERSKQLEDELAAMQKKLKGTEDELDKYSEALKDAQEKLELAEKKAAD->MAGITTIEAVKRKIQVLQQQADDAEERAERLQREVEGERRAREQ;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:3024106;Dbxref=PMID:15489334,PMID:3024106 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368531 P06753 - 7 8 1_2 221 248 retained Alternative sequence ID=VSP_047302;Note=In isoform 4 and isoform 5. MM->MAGITTI;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368531 P06753 - 7 8 5_21 221 248 retained Alternative sequence ID=VSP_047303;Note=In isoform 4 and isoform 5. IKKKMQMLKLDKENALD->VKRKIQVLQQQADDAEE;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368531 P06753 - 7 8 25_81 221 248 retained Alternative sequence ID=VSP_047304;Note=In isoform 4 and isoform 5. QAEAEQKQAEERSKQLEDELAAMQKKLKGTEDELDKYSEALKDAQEKLELAEKKAAD->RLQREVEGERRAREQ;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368531 P06753 - 7 8 190_212 221 248 retained Alternative sequence ID=VSP_006605;Note=In isoform 2%2C isoform 3 and isoform 6. KCSELEEELKNVTNNLKSLEAQA->RCREMDEQIRLMDQNLKCLSAAE;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:3024106;Dbxref=PMID:15489334,PMID:3024106 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368531 P06753 - 7 8 259_285 221 248 not_retained Alternative sequence ID=VSP_006607;Note=In isoform 3. DELYAQKLKYKAISEELDHALNDMTSI->ERLYSQLERNRLLSNELKLTLHDLCD;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368531 P06753 - 7 8 259_260 221 248 not_retained Alternative sequence ID=VSP_047305;Note=In isoform 4. DE->ER;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368531 P06753 - 7 8 260_285 221 248 not_retained Alternative sequence ID=VSP_006606;Note=In isoform 2%2C isoform 5 and isoform 7. ELYAQKLKYKAISEELDHALNDMTSI->KLKCTKEEHLCTQRMLDQTLLDLNEM;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:3024106;Dbxref=PMID:15489334,PMID:3024106 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368531 P06753 - 7 8 263_285 221 248 not_retained Alternative sequence ID=VSP_047306;Note=In isoform 4. AQKLKYKAISEELDHALNDMTSI->SQLERNRLLSNELKLTLHDLCD;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368531 P06753 - 7 8 4_4 221 248 retained Natural variant ID=VAR_071499;Note=In CFTD. A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19953533;Dbxref=dbSNP:rs199474711,PMID:19953533 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368531 P06753 - 7 8 9_9 221 248 retained Natural variant ID=VAR_013460;Note=In NEM1%3B decrease in the sensitivity of contraction to activating calcium. M->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10587521,ECO:0000269|PubMed:7704029;Dbxref=dbSNP:rs80358247,PMID:10587521,PMID:7704029 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368531 P06753 - 7 8 88_88 221 248 retained Natural variant ID=VAR_071500;Note=In NEM1 and CAPM1. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24692096;Dbxref=PMID:24692096 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368531 P06753 - 7 8 91_91 221 248 retained Natural variant ID=VAR_071502;Note=In CFTD. R->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19953533;Dbxref=dbSNP:rs199474713,PMID:19953533 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368531 P06753 - 7 8 91_91 221 248 retained Natural variant ID=VAR_071502;Note=In CFTD. R->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19953533;Dbxref=dbSNP:rs199474713,PMID:19953533 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368531 P06753 - 7 8 100_100 221 248 retained Natural variant ID=VAR_071503;Note=In CFTD. L->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24692096;Dbxref=PMID:24692096 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368531 P06753 - 7 8 100_100 221 248 retained Natural variant ID=VAR_071503;Note=In CFTD. L->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24692096;Dbxref=PMID:24692096 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368531 P06753 - 7 8 149_149 221 248 retained Natural variant ID=VAR_071504;Note=In CAPM1. L->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24239060;Dbxref=PMID:24239060 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368531 P06753 - 7 8 151_151 221 248 retained Natural variant ID=VAR_071505;Note=In CAPM1. E->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24692096;Dbxref=PMID:24692096 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368531 P06753 - 7 8 168_168 221 248 retained Natural variant ID=VAR_070069;Note=In NEM1%2C CAPM1 and CFTD%3B also found in patients with undefined congenital myopathy. R->H;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17376686,ECO:0000269|PubMed:18300303,ECO:0000269|PubMed:19553118,ECO:0000269|PubMed:19953533,ECO:0000269|PubMed:20951040,ECO:0000269|PubMed:24692096;Dbxref=dbSNP:rs121964852,PMID:17376686,PMID:18300303,PMID:19553118,PMID:19953533,PMID:20951040,PMID:24692096 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368531 P06753 - 7 8 168_168 221 248 retained Natural variant ID=VAR_070069;Note=In NEM1%2C CAPM1 and CFTD%3B also found in patients with undefined congenital myopathy. R->H;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17376686,ECO:0000269|PubMed:18300303,ECO:0000269|PubMed:19553118,ECO:0000269|PubMed:19953533,ECO:0000269|PubMed:20951040,ECO:0000269|PubMed:24692096;Dbxref=dbSNP:rs121964852,PMID:17376686,PMID:18300303,PMID:19553118,PMID:19953533,PMID:20951040,PMID:24692096 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368531 P06753 - 7 8 168_168 221 248 retained Natural variant ID=VAR_070069;Note=In NEM1%2C CAPM1 and CFTD%3B also found in patients with undefined congenital myopathy. R->H;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17376686,ECO:0000269|PubMed:18300303,ECO:0000269|PubMed:19553118,ECO:0000269|PubMed:19953533,ECO:0000269|PubMed:20951040,ECO:0000269|PubMed:24692096;Dbxref=dbSNP:rs121964852,PMID:17376686,PMID:18300303,PMID:19553118,PMID:19953533,PMID:20951040,PMID:24692096 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368531 P06753 - 7 8 169_169 221 248 retained Natural variant ID=VAR_070070;Note=In CFTD. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18300303;Dbxref=dbSNP:rs199474715,PMID:18300303 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368531 P06753 - 7 8 174_174 221 248 retained Natural variant ID=VAR_071506;Note=In CFTD. E->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20951040;Dbxref=dbSNP:rs199474716,PMID:20951040 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368531 P06753 - 7 8 241_241 221 248 not_retained Natural variant ID=VAR_071507;Note=In CFTD. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19953533;Dbxref=dbSNP:rs199474717,PMID:19953533 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368531 P06753 - 7 8 245_245 221 248 not_retained Natural variant ID=VAR_071508;Note=In CAPM1. R->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24692096;Dbxref=dbSNP:rs797046047,PMID:24692096 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368531 P06753 - 7 8 245_245 221 248 not_retained Natural variant ID=VAR_071508;Note=In CAPM1. R->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24692096;Dbxref=dbSNP:rs797046047,PMID:24692096 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368531 P06753 - 7 8 253_253 221 248 not_retained Natural variant ID=VAR_071509;Note=Probable disease-associated mutation found in patients with undefined congenital myopathy. T->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24692096;Dbxref=PMID:24692096 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368531 P06753 - 7 8 150_150 221 248 retained Sequence conflict Note=K->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000323144 P06753 - 7 8 1_1 221 248 retained Initiator methionine Note=Removed;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P58776 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000323144 P06753 - 7 8 2_285 221 248 not_retained Chain ID=PRO_0000205632;Note=Tropomyosin alpha-3 chain Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000323144 P06753 - 7 8 1_285 221 248 not_retained Coiled coil Ontology_term=ECO:0000250;evidence=ECO:0000250 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000323144 P06753 - 7 8 2_2 221 248 retained Modified residue Note=N-acetylmethionine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P58776 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000323144 P06753 - 7 8 54_54 221 248 retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P07951 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000323144 P06753 - 7 8 62_62 221 248 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P58774 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000323144 P06753 - 7 8 88_88 221 248 retained Natural variant ID=VAR_071500;Note=In NEM1 and CAPM1. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24692096;Dbxref=PMID:24692096 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000323144 P06753 - 7 8 109_109 221 248 retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P07951 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000323144 P06753 - 7 8 207_207 221 248 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P07951 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000323144 P06753 - 7 8 216_216 221 248 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P58775 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000323144 P06753 - 7 8 253_253 221 248 not_retained Natural variant ID=VAR_071509;Note=Probable disease-associated mutation found in patients with undefined congenital myopathy. T->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24692096;Dbxref=PMID:24692096 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000323144 P06753 - 7 8 262_262 221 248 not_retained Modified residue Note=Phosphotyrosine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P58775 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000323144 P06753 - 7 8 272_272 221 248 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P21107 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000323144 P06753 - 7 8 283_283 221 248 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P07951 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000323144 P06753 - 7 8 284_284 221 248 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P21107 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000323144 P06753 - 7 8 1_127 221 248 retained Alternative sequence ID=VSP_054792;Note=In isoform 7. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000323144 P06753 - 7 8 1_81 221 248 retained Alternative sequence ID=VSP_006604;Note=In isoform 2%2C isoform 3 and isoform 6. MMEAIKKKMQMLKLDKENALDRAEQAEAEQKQAEERSKQLEDELAAMQKKLKGTEDELDKYSEALKDAQEKLELAEKKAAD->MAGITTIEAVKRKIQVLQQQADDAEERAERLQREVEGERRAREQ;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:3024106;Dbxref=PMID:15489334,PMID:3024106 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000323144 P06753 - 7 8 1_2 221 248 retained Alternative sequence ID=VSP_047302;Note=In isoform 4 and isoform 5. MM->MAGITTI;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000323144 P06753 - 7 8 5_21 221 248 retained Alternative sequence ID=VSP_047303;Note=In isoform 4 and isoform 5. IKKKMQMLKLDKENALD->VKRKIQVLQQQADDAEE;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000323144 P06753 - 7 8 25_81 221 248 retained Alternative sequence ID=VSP_047304;Note=In isoform 4 and isoform 5. QAEAEQKQAEERSKQLEDELAAMQKKLKGTEDELDKYSEALKDAQEKLELAEKKAAD->RLQREVEGERRAREQ;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000323144 P06753 - 7 8 190_212 221 248 retained Alternative sequence ID=VSP_006605;Note=In isoform 2%2C isoform 3 and isoform 6. KCSELEEELKNVTNNLKSLEAQA->RCREMDEQIRLMDQNLKCLSAAE;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:3024106;Dbxref=PMID:15489334,PMID:3024106 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000323144 P06753 - 7 8 259_285 221 248 not_retained Alternative sequence ID=VSP_006607;Note=In isoform 3. DELYAQKLKYKAISEELDHALNDMTSI->ERLYSQLERNRLLSNELKLTLHDLCD;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000323144 P06753 - 7 8 259_260 221 248 not_retained Alternative sequence ID=VSP_047305;Note=In isoform 4. DE->ER;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000323144 P06753 - 7 8 260_285 221 248 not_retained Alternative sequence ID=VSP_006606;Note=In isoform 2%2C isoform 5 and isoform 7. ELYAQKLKYKAISEELDHALNDMTSI->KLKCTKEEHLCTQRMLDQTLLDLNEM;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:3024106;Dbxref=PMID:15489334,PMID:3024106 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000323144 P06753 - 7 8 263_285 221 248 not_retained Alternative sequence ID=VSP_047306;Note=In isoform 4. AQKLKYKAISEELDHALNDMTSI->SQLERNRLLSNELKLTLHDLCD;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000323144 P06753 - 7 8 4_4 221 248 retained Natural variant ID=VAR_071499;Note=In CFTD. A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19953533;Dbxref=dbSNP:rs199474711,PMID:19953533 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000323144 P06753 - 7 8 9_9 221 248 retained Natural variant ID=VAR_013460;Note=In NEM1%3B decrease in the sensitivity of contraction to activating calcium. M->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10587521,ECO:0000269|PubMed:7704029;Dbxref=dbSNP:rs80358247,PMID:10587521,PMID:7704029 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000323144 P06753 - 7 8 88_88 221 248 retained Natural variant ID=VAR_071500;Note=In NEM1 and CAPM1. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24692096;Dbxref=PMID:24692096 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000323144 P06753 - 7 8 91_91 221 248 retained Natural variant ID=VAR_071502;Note=In CFTD. R->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19953533;Dbxref=dbSNP:rs199474713,PMID:19953533 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000323144 P06753 - 7 8 91_91 221 248 retained Natural variant ID=VAR_071502;Note=In CFTD. R->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19953533;Dbxref=dbSNP:rs199474713,PMID:19953533 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000323144 P06753 - 7 8 100_100 221 248 retained Natural variant ID=VAR_071503;Note=In CFTD. L->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24692096;Dbxref=PMID:24692096 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000323144 P06753 - 7 8 100_100 221 248 retained Natural variant ID=VAR_071503;Note=In CFTD. L->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24692096;Dbxref=PMID:24692096 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000323144 P06753 - 7 8 149_149 221 248 retained Natural variant ID=VAR_071504;Note=In CAPM1. L->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24239060;Dbxref=PMID:24239060 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000323144 P06753 - 7 8 151_151 221 248 retained Natural variant ID=VAR_071505;Note=In CAPM1. E->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24692096;Dbxref=PMID:24692096 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000323144 P06753 - 7 8 168_168 221 248 retained Natural variant ID=VAR_070069;Note=In NEM1%2C CAPM1 and CFTD%3B also found in patients with undefined congenital myopathy. R->H;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17376686,ECO:0000269|PubMed:18300303,ECO:0000269|PubMed:19553118,ECO:0000269|PubMed:19953533,ECO:0000269|PubMed:20951040,ECO:0000269|PubMed:24692096;Dbxref=dbSNP:rs121964852,PMID:17376686,PMID:18300303,PMID:19553118,PMID:19953533,PMID:20951040,PMID:24692096 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000323144 P06753 - 7 8 168_168 221 248 retained Natural variant ID=VAR_070069;Note=In NEM1%2C CAPM1 and CFTD%3B also found in patients with undefined congenital myopathy. R->H;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17376686,ECO:0000269|PubMed:18300303,ECO:0000269|PubMed:19553118,ECO:0000269|PubMed:19953533,ECO:0000269|PubMed:20951040,ECO:0000269|PubMed:24692096;Dbxref=dbSNP:rs121964852,PMID:17376686,PMID:18300303,PMID:19553118,PMID:19953533,PMID:20951040,PMID:24692096 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000323144 P06753 - 7 8 168_168 221 248 retained Natural variant ID=VAR_070069;Note=In NEM1%2C CAPM1 and CFTD%3B also found in patients with undefined congenital myopathy. R->H;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17376686,ECO:0000269|PubMed:18300303,ECO:0000269|PubMed:19553118,ECO:0000269|PubMed:19953533,ECO:0000269|PubMed:20951040,ECO:0000269|PubMed:24692096;Dbxref=dbSNP:rs121964852,PMID:17376686,PMID:18300303,PMID:19553118,PMID:19953533,PMID:20951040,PMID:24692096 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000323144 P06753 - 7 8 169_169 221 248 retained Natural variant ID=VAR_070070;Note=In CFTD. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18300303;Dbxref=dbSNP:rs199474715,PMID:18300303 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000323144 P06753 - 7 8 174_174 221 248 retained Natural variant ID=VAR_071506;Note=In CFTD. E->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20951040;Dbxref=dbSNP:rs199474716,PMID:20951040 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000323144 P06753 - 7 8 241_241 221 248 not_retained Natural variant ID=VAR_071507;Note=In CFTD. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19953533;Dbxref=dbSNP:rs199474717,PMID:19953533 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000323144 P06753 - 7 8 245_245 221 248 not_retained Natural variant ID=VAR_071508;Note=In CAPM1. R->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24692096;Dbxref=dbSNP:rs797046047,PMID:24692096 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000323144 P06753 - 7 8 245_245 221 248 not_retained Natural variant ID=VAR_071508;Note=In CAPM1. R->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24692096;Dbxref=dbSNP:rs797046047,PMID:24692096 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000323144 P06753 - 7 8 253_253 221 248 not_retained Natural variant ID=VAR_071509;Note=Probable disease-associated mutation found in patients with undefined congenital myopathy. T->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24692096;Dbxref=PMID:24692096 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000323144 P06753 - 7 8 150_150 221 248 retained Sequence conflict Note=K->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368530 P06753 - 8 10 1_1 258 286 retained Initiator methionine Note=Removed;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P58776 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368530 P06753 - 8 10 2_285 258 286 not_retained Chain ID=PRO_0000205632;Note=Tropomyosin alpha-3 chain Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368530 P06753 - 8 10 1_285 258 286 not_retained Coiled coil Ontology_term=ECO:0000250;evidence=ECO:0000250 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368530 P06753 - 8 10 2_2 258 286 retained Modified residue Note=N-acetylmethionine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P58776 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368530 P06753 - 8 10 54_54 258 286 retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P07951 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368530 P06753 - 8 10 62_62 258 286 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P58774 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368530 P06753 - 8 10 88_88 258 286 retained Natural variant ID=VAR_071500;Note=In NEM1 and CAPM1. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24692096;Dbxref=PMID:24692096 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368530 P06753 - 8 10 109_109 258 286 retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P07951 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368530 P06753 - 8 10 207_207 258 286 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P07951 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368530 P06753 - 8 10 216_216 258 286 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P58775 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368530 P06753 - 8 10 253_253 258 286 retained Natural variant ID=VAR_071509;Note=Probable disease-associated mutation found in patients with undefined congenital myopathy. T->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24692096;Dbxref=PMID:24692096 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368530 P06753 - 8 10 262_262 258 286 not_retained Modified residue Note=Phosphotyrosine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P58775 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368530 P06753 - 8 10 272_272 258 286 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P21107 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368530 P06753 - 8 10 283_283 258 286 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P07951 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368530 P06753 - 8 10 284_284 258 286 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P21107 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368530 P06753 - 8 10 1_127 258 286 retained Alternative sequence ID=VSP_054792;Note=In isoform 7. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368530 P06753 - 8 10 1_81 258 286 retained Alternative sequence ID=VSP_006604;Note=In isoform 2%2C isoform 3 and isoform 6. MMEAIKKKMQMLKLDKENALDRAEQAEAEQKQAEERSKQLEDELAAMQKKLKGTEDELDKYSEALKDAQEKLELAEKKAAD->MAGITTIEAVKRKIQVLQQQADDAEERAERLQREVEGERRAREQ;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:3024106;Dbxref=PMID:15489334,PMID:3024106 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368530 P06753 - 8 10 1_2 258 286 retained Alternative sequence ID=VSP_047302;Note=In isoform 4 and isoform 5. MM->MAGITTI;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368530 P06753 - 8 10 5_21 258 286 retained Alternative sequence ID=VSP_047303;Note=In isoform 4 and isoform 5. IKKKMQMLKLDKENALD->VKRKIQVLQQQADDAEE;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368530 P06753 - 8 10 25_81 258 286 retained Alternative sequence ID=VSP_047304;Note=In isoform 4 and isoform 5. QAEAEQKQAEERSKQLEDELAAMQKKLKGTEDELDKYSEALKDAQEKLELAEKKAAD->RLQREVEGERRAREQ;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368530 P06753 - 8 10 190_212 258 286 retained Alternative sequence ID=VSP_006605;Note=In isoform 2%2C isoform 3 and isoform 6. KCSELEEELKNVTNNLKSLEAQA->RCREMDEQIRLMDQNLKCLSAAE;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:3024106;Dbxref=PMID:15489334,PMID:3024106 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368530 P06753 - 8 10 259_285 258 286 not_retained Alternative sequence ID=VSP_006607;Note=In isoform 3. DELYAQKLKYKAISEELDHALNDMTSI->ERLYSQLERNRLLSNELKLTLHDLCD;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368530 P06753 - 8 10 259_260 258 286 retained Alternative sequence ID=VSP_047305;Note=In isoform 4. DE->ER;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368530 P06753 - 8 10 260_285 258 286 not_retained Alternative sequence ID=VSP_006606;Note=In isoform 2%2C isoform 5 and isoform 7. ELYAQKLKYKAISEELDHALNDMTSI->KLKCTKEEHLCTQRMLDQTLLDLNEM;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:3024106;Dbxref=PMID:15489334,PMID:3024106 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368530 P06753 - 8 10 263_285 258 286 not_retained Alternative sequence ID=VSP_047306;Note=In isoform 4. AQKLKYKAISEELDHALNDMTSI->SQLERNRLLSNELKLTLHDLCD;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368530 P06753 - 8 10 4_4 258 286 retained Natural variant ID=VAR_071499;Note=In CFTD. A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19953533;Dbxref=dbSNP:rs199474711,PMID:19953533 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368530 P06753 - 8 10 9_9 258 286 retained Natural variant ID=VAR_013460;Note=In NEM1%3B decrease in the sensitivity of contraction to activating calcium. M->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10587521,ECO:0000269|PubMed:7704029;Dbxref=dbSNP:rs80358247,PMID:10587521,PMID:7704029 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368530 P06753 - 8 10 88_88 258 286 retained Natural variant ID=VAR_071500;Note=In NEM1 and CAPM1. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24692096;Dbxref=PMID:24692096 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368530 P06753 - 8 10 91_91 258 286 retained Natural variant ID=VAR_071502;Note=In CFTD. R->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19953533;Dbxref=dbSNP:rs199474713,PMID:19953533 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368530 P06753 - 8 10 91_91 258 286 retained Natural variant ID=VAR_071502;Note=In CFTD. R->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19953533;Dbxref=dbSNP:rs199474713,PMID:19953533 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368530 P06753 - 8 10 100_100 258 286 retained Natural variant ID=VAR_071503;Note=In CFTD. L->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24692096;Dbxref=PMID:24692096 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368530 P06753 - 8 10 100_100 258 286 retained Natural variant ID=VAR_071503;Note=In CFTD. L->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24692096;Dbxref=PMID:24692096 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368530 P06753 - 8 10 149_149 258 286 retained Natural variant ID=VAR_071504;Note=In CAPM1. L->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24239060;Dbxref=PMID:24239060 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368530 P06753 - 8 10 151_151 258 286 retained Natural variant ID=VAR_071505;Note=In CAPM1. E->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24692096;Dbxref=PMID:24692096 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368530 P06753 - 8 10 168_168 258 286 retained Natural variant ID=VAR_070069;Note=In NEM1%2C CAPM1 and CFTD%3B also found in patients with undefined congenital myopathy. R->H;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17376686,ECO:0000269|PubMed:18300303,ECO:0000269|PubMed:19553118,ECO:0000269|PubMed:19953533,ECO:0000269|PubMed:20951040,ECO:0000269|PubMed:24692096;Dbxref=dbSNP:rs121964852,PMID:17376686,PMID:18300303,PMID:19553118,PMID:19953533,PMID:20951040,PMID:24692096 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368530 P06753 - 8 10 168_168 258 286 retained Natural variant ID=VAR_070069;Note=In NEM1%2C CAPM1 and CFTD%3B also found in patients with undefined congenital myopathy. R->H;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17376686,ECO:0000269|PubMed:18300303,ECO:0000269|PubMed:19553118,ECO:0000269|PubMed:19953533,ECO:0000269|PubMed:20951040,ECO:0000269|PubMed:24692096;Dbxref=dbSNP:rs121964852,PMID:17376686,PMID:18300303,PMID:19553118,PMID:19953533,PMID:20951040,PMID:24692096 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368530 P06753 - 8 10 168_168 258 286 retained Natural variant ID=VAR_070069;Note=In NEM1%2C CAPM1 and CFTD%3B also found in patients with undefined congenital myopathy. R->H;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17376686,ECO:0000269|PubMed:18300303,ECO:0000269|PubMed:19553118,ECO:0000269|PubMed:19953533,ECO:0000269|PubMed:20951040,ECO:0000269|PubMed:24692096;Dbxref=dbSNP:rs121964852,PMID:17376686,PMID:18300303,PMID:19553118,PMID:19953533,PMID:20951040,PMID:24692096 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368530 P06753 - 8 10 169_169 258 286 retained Natural variant ID=VAR_070070;Note=In CFTD. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18300303;Dbxref=dbSNP:rs199474715,PMID:18300303 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368530 P06753 - 8 10 174_174 258 286 retained Natural variant ID=VAR_071506;Note=In CFTD. E->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20951040;Dbxref=dbSNP:rs199474716,PMID:20951040 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368530 P06753 - 8 10 241_241 258 286 retained Natural variant ID=VAR_071507;Note=In CFTD. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19953533;Dbxref=dbSNP:rs199474717,PMID:19953533 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368530 P06753 - 8 10 245_245 258 286 retained Natural variant ID=VAR_071508;Note=In CAPM1. R->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24692096;Dbxref=dbSNP:rs797046047,PMID:24692096 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368530 P06753 - 8 10 245_245 258 286 retained Natural variant ID=VAR_071508;Note=In CAPM1. R->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24692096;Dbxref=dbSNP:rs797046047,PMID:24692096 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368530 P06753 - 8 10 253_253 258 286 retained Natural variant ID=VAR_071509;Note=Probable disease-associated mutation found in patients with undefined congenital myopathy. T->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24692096;Dbxref=PMID:24692096 Hgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000368530 P06753 - 8 10 150_150 258 286 retained Sequence conflict Note=K->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000395184 Q8N264 + 2 10 1_748 60 749 not_retained Chain ID=PRO_0000280473;Note=Rho GTPase-activating protein 24 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000395184 Q8N264 + 2 10 19_125 60 749 not_retained Domain Note=PH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00145 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000395184 Q8N264 + 2 10 135_329 60 749 not_retained Domain Note=Rho-GAP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00172 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000395184 Q8N264 + 2 10 649_729 60 749 not_retained Coiled coil Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000395184 Q8N264 + 2 10 369_369 60 749 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q5U2Z7 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000395184 Q8N264 + 2 10 391_391 60 749 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16862148;Dbxref=PMID:16862148 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000395184 Q8N264 + 2 10 396_396 60 749 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C4V1 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000395184 Q8N264 + 2 10 398_398 60 749 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C4V1 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000395184 Q8N264 + 2 10 402_402 60 749 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16862148;Dbxref=PMID:16862148 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000395184 Q8N264 + 2 10 413_413 60 749 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16862148;Dbxref=PMID:16862148 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000395184 Q8N264 + 2 10 415_415 60 749 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:23186163,ECO:0000269|PubMed:16862148;Dbxref=PMID:23186163,PMID:16862148 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000395184 Q8N264 + 2 10 437_437 60 749 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16862148;Dbxref=PMID:16862148 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000395184 Q8N264 + 2 10 452_452 60 749 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16862148;Dbxref=PMID:16862148 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000395184 Q8N264 + 2 10 1_95 60 749 not_retained Alternative sequence ID=VSP_023711;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000395184 Q8N264 + 2 10 1_93 60 749 not_retained Alternative sequence ID=VSP_023712;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11230166;Dbxref=PMID:11230166 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000395184 Q8N264 + 2 10 1_1 60 749 retained Alternative sequence ID=VSP_023713;Note=In isoform 5. M->MWLRKKDWQIFNEQFLKKEHAVGFCFSKCVLVEFSLKCFKKIKSSYWNNDALAFLGKKFLREKNKMTKKQTRNRQNKFPPKPALRSSPVHRVQHFPLLWKVKEPHYHLFFFAFSYCWSWEPFPSEQQPCPASVLSSQQGKSISLIM;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000395184 Q8N264 + 2 10 91_94 60 749 not_retained Alternative sequence ID=VSP_023714;Note=In isoform 5. GDRD->KIFS;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000395184 Q8N264 + 2 10 94_130 60 749 not_retained Alternative sequence ID=VSP_023715;Note=In isoform 2. DRMTANHESYLLMASTQNDMEDWVKSIRRVIWGPFGG->MPEDRNSGGCPAGALASTPFIPKTTYRRIKRCFSFRK;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11230166;Dbxref=PMID:11230166 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000395184 Q8N264 + 2 10 95_748 60 749 not_retained Alternative sequence ID=VSP_023716;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000395184 Q8N264 + 2 10 245_246 60 749 not_retained Alternative sequence ID=VSP_023717;Note=In isoform 4. GV->VS;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000395184 Q8N264 + 2 10 247_748 60 749 not_retained Alternative sequence ID=VSP_023718;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000395184 Q8N264 + 2 10 175_175 60 749 not_retained Mutagenesis Note=Does not abolish the effect on actin stress fibers but moderates its capability to induce membrane protrusions. R->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15302923,ECO:0000269|PubMed:15611138;Dbxref=PMID:15302923,PMID:15611138 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000395184 Q8N264 + 2 10 175_175 60 749 not_retained Mutagenesis Note=Does not abolish the effect on actin stress fibers but moderates its capability to induce membrane protrusions. R->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15302923,ECO:0000269|PubMed:15611138;Dbxref=PMID:15302923,PMID:15611138 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000395184 Q8N264 + 2 10 140_140 60 749 not_retained Sequence conflict Note=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000395184 Q8N264 + 2 10 357_357 60 749 not_retained Sequence conflict Note=Q->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000395184 Q8N264 + 2 10 722_722 60 749 not_retained Sequence conflict Note=M->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000503995 Q8N264 + 2 6 1_748 60 247 not_retained Chain ID=PRO_0000280473;Note=Rho GTPase-activating protein 24 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000503995 Q8N264 + 2 6 19_125 60 247 not_retained Domain Note=PH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00145 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000503995 Q8N264 + 2 6 135_329 60 247 not_retained Domain Note=Rho-GAP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00172 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000503995 Q8N264 + 2 6 649_729 60 247 not_retained Coiled coil Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000503995 Q8N264 + 2 6 369_369 60 247 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q5U2Z7 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000503995 Q8N264 + 2 6 391_391 60 247 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16862148;Dbxref=PMID:16862148 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000503995 Q8N264 + 2 6 396_396 60 247 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C4V1 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000503995 Q8N264 + 2 6 398_398 60 247 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C4V1 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000503995 Q8N264 + 2 6 402_402 60 247 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16862148;Dbxref=PMID:16862148 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000503995 Q8N264 + 2 6 413_413 60 247 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16862148;Dbxref=PMID:16862148 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000503995 Q8N264 + 2 6 415_415 60 247 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:23186163,ECO:0000269|PubMed:16862148;Dbxref=PMID:23186163,PMID:16862148 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000503995 Q8N264 + 2 6 437_437 60 247 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16862148;Dbxref=PMID:16862148 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000503995 Q8N264 + 2 6 452_452 60 247 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16862148;Dbxref=PMID:16862148 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000503995 Q8N264 + 2 6 1_95 60 247 not_retained Alternative sequence ID=VSP_023711;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000503995 Q8N264 + 2 6 1_93 60 247 not_retained Alternative sequence ID=VSP_023712;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11230166;Dbxref=PMID:11230166 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000503995 Q8N264 + 2 6 1_1 60 247 retained Alternative sequence ID=VSP_023713;Note=In isoform 5. M->MWLRKKDWQIFNEQFLKKEHAVGFCFSKCVLVEFSLKCFKKIKSSYWNNDALAFLGKKFLREKNKMTKKQTRNRQNKFPPKPALRSSPVHRVQHFPLLWKVKEPHYHLFFFAFSYCWSWEPFPSEQQPCPASVLSSQQGKSISLIM;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000503995 Q8N264 + 2 6 91_94 60 247 not_retained Alternative sequence ID=VSP_023714;Note=In isoform 5. GDRD->KIFS;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000503995 Q8N264 + 2 6 94_130 60 247 not_retained Alternative sequence ID=VSP_023715;Note=In isoform 2. DRMTANHESYLLMASTQNDMEDWVKSIRRVIWGPFGG->MPEDRNSGGCPAGALASTPFIPKTTYRRIKRCFSFRK;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11230166;Dbxref=PMID:11230166 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000503995 Q8N264 + 2 6 95_748 60 247 not_retained Alternative sequence ID=VSP_023716;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000503995 Q8N264 + 2 6 245_246 60 247 not_retained Alternative sequence ID=VSP_023717;Note=In isoform 4. GV->VS;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000503995 Q8N264 + 2 6 247_748 60 247 not_retained Alternative sequence ID=VSP_023718;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000503995 Q8N264 + 2 6 175_175 60 247 not_retained Mutagenesis Note=Does not abolish the effect on actin stress fibers but moderates its capability to induce membrane protrusions. R->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15302923,ECO:0000269|PubMed:15611138;Dbxref=PMID:15302923,PMID:15611138 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000503995 Q8N264 + 2 6 175_175 60 247 not_retained Mutagenesis Note=Does not abolish the effect on actin stress fibers but moderates its capability to induce membrane protrusions. R->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15302923,ECO:0000269|PubMed:15611138;Dbxref=PMID:15302923,PMID:15611138 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000503995 Q8N264 + 2 6 140_140 60 247 not_retained Sequence conflict Note=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000503995 Q8N264 + 2 6 357_357 60 247 not_retained Sequence conflict Note=Q->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000503995 Q8N264 + 2 6 722_722 60 247 not_retained Sequence conflict Note=M->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000395183 Q8N264 + 1 8 1_748 -93 654 not_retained Chain ID=PRO_0000280473;Note=Rho GTPase-activating protein 24 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000395183 Q8N264 + 1 8 19_125 -93 654 not_retained Domain Note=PH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00145 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000395183 Q8N264 + 1 8 135_329 -93 654 not_retained Domain Note=Rho-GAP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00172 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000395183 Q8N264 + 1 8 649_729 -93 654 not_retained Coiled coil Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000395183 Q8N264 + 1 8 369_369 -93 654 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q5U2Z7 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000395183 Q8N264 + 1 8 391_391 -93 654 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16862148;Dbxref=PMID:16862148 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000395183 Q8N264 + 1 8 396_396 -93 654 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C4V1 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000395183 Q8N264 + 1 8 398_398 -93 654 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C4V1 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000395183 Q8N264 + 1 8 402_402 -93 654 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16862148;Dbxref=PMID:16862148 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000395183 Q8N264 + 1 8 413_413 -93 654 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16862148;Dbxref=PMID:16862148 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000395183 Q8N264 + 1 8 415_415 -93 654 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:23186163,ECO:0000269|PubMed:16862148;Dbxref=PMID:23186163,PMID:16862148 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000395183 Q8N264 + 1 8 437_437 -93 654 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16862148;Dbxref=PMID:16862148 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000395183 Q8N264 + 1 8 452_452 -93 654 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16862148;Dbxref=PMID:16862148 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000395183 Q8N264 + 1 8 1_95 -93 654 not_retained Alternative sequence ID=VSP_023711;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000395183 Q8N264 + 1 8 1_93 -93 654 not_retained Alternative sequence ID=VSP_023712;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11230166;Dbxref=PMID:11230166 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000395183 Q8N264 + 1 8 1_1 -93 654 not_retained Alternative sequence ID=VSP_023713;Note=In isoform 5. M->MWLRKKDWQIFNEQFLKKEHAVGFCFSKCVLVEFSLKCFKKIKSSYWNNDALAFLGKKFLREKNKMTKKQTRNRQNKFPPKPALRSSPVHRVQHFPLLWKVKEPHYHLFFFAFSYCWSWEPFPSEQQPCPASVLSSQQGKSISLIM;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000395183 Q8N264 + 1 8 91_94 -93 654 not_retained Alternative sequence ID=VSP_023714;Note=In isoform 5. GDRD->KIFS;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000395183 Q8N264 + 1 8 94_130 -93 654 not_retained Alternative sequence ID=VSP_023715;Note=In isoform 2. DRMTANHESYLLMASTQNDMEDWVKSIRRVIWGPFGG->MPEDRNSGGCPAGALASTPFIPKTTYRRIKRCFSFRK;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11230166;Dbxref=PMID:11230166 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000395183 Q8N264 + 1 8 95_748 -93 654 not_retained Alternative sequence ID=VSP_023716;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000395183 Q8N264 + 1 8 245_246 -93 654 not_retained Alternative sequence ID=VSP_023717;Note=In isoform 4. GV->VS;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000395183 Q8N264 + 1 8 247_748 -93 654 not_retained Alternative sequence ID=VSP_023718;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000395183 Q8N264 + 1 8 175_175 -93 654 not_retained Mutagenesis Note=Does not abolish the effect on actin stress fibers but moderates its capability to induce membrane protrusions. R->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15302923,ECO:0000269|PubMed:15611138;Dbxref=PMID:15302923,PMID:15611138 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000395183 Q8N264 + 1 8 175_175 -93 654 not_retained Mutagenesis Note=Does not abolish the effect on actin stress fibers but moderates its capability to induce membrane protrusions. R->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15302923,ECO:0000269|PubMed:15611138;Dbxref=PMID:15302923,PMID:15611138 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000395183 Q8N264 + 1 8 140_140 -93 654 not_retained Sequence conflict Note=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000395183 Q8N264 + 1 8 357_357 -93 654 not_retained Sequence conflict Note=Q->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000395183 Q8N264 + 1 8 722_722 -93 654 not_retained Sequence conflict Note=M->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000264343 Q8N264 + 1 7 1_748 -220 656 not_retained Chain ID=PRO_0000280473;Note=Rho GTPase-activating protein 24 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000264343 Q8N264 + 1 7 19_125 -220 656 not_retained Domain Note=PH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00145 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000264343 Q8N264 + 1 7 135_329 -220 656 not_retained Domain Note=Rho-GAP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00172 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000264343 Q8N264 + 1 7 649_729 -220 656 not_retained Coiled coil Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000264343 Q8N264 + 1 7 369_369 -220 656 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q5U2Z7 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000264343 Q8N264 + 1 7 391_391 -220 656 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16862148;Dbxref=PMID:16862148 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000264343 Q8N264 + 1 7 396_396 -220 656 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C4V1 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000264343 Q8N264 + 1 7 398_398 -220 656 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C4V1 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000264343 Q8N264 + 1 7 402_402 -220 656 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16862148;Dbxref=PMID:16862148 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000264343 Q8N264 + 1 7 413_413 -220 656 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16862148;Dbxref=PMID:16862148 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000264343 Q8N264 + 1 7 415_415 -220 656 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:23186163,ECO:0000269|PubMed:16862148;Dbxref=PMID:23186163,PMID:16862148 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000264343 Q8N264 + 1 7 437_437 -220 656 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16862148;Dbxref=PMID:16862148 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000264343 Q8N264 + 1 7 452_452 -220 656 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16862148;Dbxref=PMID:16862148 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000264343 Q8N264 + 1 7 1_95 -220 656 not_retained Alternative sequence ID=VSP_023711;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000264343 Q8N264 + 1 7 1_93 -220 656 not_retained Alternative sequence ID=VSP_023712;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11230166;Dbxref=PMID:11230166 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000264343 Q8N264 + 1 7 1_1 -220 656 not_retained Alternative sequence ID=VSP_023713;Note=In isoform 5. M->MWLRKKDWQIFNEQFLKKEHAVGFCFSKCVLVEFSLKCFKKIKSSYWNNDALAFLGKKFLREKNKMTKKQTRNRQNKFPPKPALRSSPVHRVQHFPLLWKVKEPHYHLFFFAFSYCWSWEPFPSEQQPCPASVLSSQQGKSISLIM;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000264343 Q8N264 + 1 7 91_94 -220 656 not_retained Alternative sequence ID=VSP_023714;Note=In isoform 5. GDRD->KIFS;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000264343 Q8N264 + 1 7 94_130 -220 656 not_retained Alternative sequence ID=VSP_023715;Note=In isoform 2. DRMTANHESYLLMASTQNDMEDWVKSIRRVIWGPFGG->MPEDRNSGGCPAGALASTPFIPKTTYRRIKRCFSFRK;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11230166;Dbxref=PMID:11230166 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000264343 Q8N264 + 1 7 95_748 -220 656 not_retained Alternative sequence ID=VSP_023716;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000264343 Q8N264 + 1 7 245_246 -220 656 not_retained Alternative sequence ID=VSP_023717;Note=In isoform 4. GV->VS;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000264343 Q8N264 + 1 7 247_748 -220 656 not_retained Alternative sequence ID=VSP_023718;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000264343 Q8N264 + 1 7 175_175 -220 656 not_retained Mutagenesis Note=Does not abolish the effect on actin stress fibers but moderates its capability to induce membrane protrusions. R->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15302923,ECO:0000269|PubMed:15611138;Dbxref=PMID:15302923,PMID:15611138 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000264343 Q8N264 + 1 7 175_175 -220 656 not_retained Mutagenesis Note=Does not abolish the effect on actin stress fibers but moderates its capability to induce membrane protrusions. R->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15302923,ECO:0000269|PubMed:15611138;Dbxref=PMID:15302923,PMID:15611138 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000264343 Q8N264 + 1 7 140_140 -220 656 not_retained Sequence conflict Note=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000264343 Q8N264 + 1 7 357_357 -220 656 not_retained Sequence conflict Note=Q->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000264343 Q8N264 + 1 7 722_722 -220 656 not_retained Sequence conflict Note=M->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1_3969 1444 3973 not_retained Chain ID=PRO_0000124876;Note=Histone-lysine N-methyltransferase 2A Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1_2718 1444 3973 not_retained Chain ID=PRO_0000390949;Note=MLL cleavage product N320 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 2719_3969 1444 3973 not_retained Chain ID=PRO_0000390950;Note=MLL cleavage product C180 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1703_1748 1444 3973 not_retained Domain Note=Bromo%3B divergent;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00035 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 2018_2074 1444 3973 not_retained Domain Note=FYR N-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00875 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 3666_3747 1444 3973 not_retained Domain Note=FYR C-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00876 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 3829_3945 1444 3973 not_retained Domain Note=SET;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00190 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 3953_3969 1444 3973 not_retained Domain Note=Post-SET;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00155 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 169_180 1444 3973 retained DNA binding Note=A.T hook 1 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 217_227 1444 3973 retained DNA binding Note=A.T hook 2 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 301_309 1444 3973 retained DNA binding Note=A.T hook 3 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1147_1195 1444 3973 retained Zinc finger Note=CXXC-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00509 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1431_1482 1444 3973 not_retained Zinc finger Note=PHD-type 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00146 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1479_1533 1444 3973 not_retained Zinc finger Note=PHD-type 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00146 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1566_1627 1444 3973 not_retained Zinc finger Note=PHD-type 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00146 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1870_1910 1444 3973 not_retained Zinc finger Note=C2HC pre-PHD-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01146 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1931_1978 1444 3973 not_retained Zinc finger Note=PHD-type 4;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01146 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1584_1600 1444 3973 not_retained Region Note=Interaction with histone H3K4me3;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20677832;Dbxref=PMID:20677832 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 3764_3771 1444 3973 not_retained Region Note=Interaction with WDR5;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18829459;Dbxref=PMID:18829459 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 3906_3907 1444 3973 not_retained Region Note=S-adenosyl-L-methionine binding;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:2W5Y,ECO:0000244|PDB:5F5E,ECO:0000244|PDB:5F6L,ECO:0000269|PubMed:19187761,ECO:0000269|PubMed:26886794;Dbxref=PMID:19187761,PMID:26886794 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 2847_2855 1444 3973 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5SVH Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 17_102 1444 3973 retained Compositional bias Note=Ala/Gly/Ser-rich Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 137_143 1444 3973 retained Compositional bias Note=Poly-Gly Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 561_564 1444 3973 retained Compositional bias Note=Poly-Pro Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 568_571 1444 3973 retained Compositional bias Note=Poly-Pro Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 3909_3909 1444 3973 not_retained Metal binding Note=Zinc;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:2W5Y,ECO:0000244|PDB:2W5Z,ECO:0000244|PDB:5F5E,ECO:0000244|PDB:5F6L,ECO:0000269|PubMed:16990798,ECO:0000269|PubMed:19187761;Dbxref=PMID:16990798,PMID:19187761 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 3957_3957 1444 3973 not_retained Metal binding Note=Zinc;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:2W5Y,ECO:0000244|PDB:2W5Z,ECO:0000244|PDB:5F5E,ECO:0000244|PDB:5F6L,ECO:0000269|PubMed:16990798,ECO:0000269|PubMed:19187761;Dbxref=PMID:16990798,PMID:19187761 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 3959_3959 1444 3973 not_retained Metal binding Note=Zinc;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:2W5Y,ECO:0000244|PDB:2W5Z,ECO:0000244|PDB:5F5E,ECO:0000244|PDB:5F6L,ECO:0000269|PubMed:16990798,ECO:0000269|PubMed:19187761;Dbxref=PMID:16990798,PMID:19187761 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 3964_3964 1444 3973 not_retained Metal binding Note=Zinc;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:2W5Y,ECO:0000244|PDB:2W5Z,ECO:0000244|PDB:5F6L,ECO:0000269|PubMed:16990798,ECO:0000269|PubMed:19187761;Dbxref=PMID:16990798,PMID:19187761 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 3839_3839 1444 3973 not_retained Binding site Note=S-adenosyl-L-methionine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000255,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:2W5Y,ECO:0000244|PDB:5F5E,ECO:0000244|PDB:5F6L,ECO:0000255|PROSITE-ProRule:PRU00190,ECO:0000269|PubMed:19187761,ECO:0000269|PubMed:26886794;Dbxref=PMID:19187761,PMID:26886794 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 3841_3841 1444 3973 not_retained Binding site Note=S-adenosyl-L-methionine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000255,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:2W5Y,ECO:0000244|PDB:5F5E,ECO:0000244|PDB:5F6L,ECO:0000255|PROSITE-ProRule:PRU00190,ECO:0000269|PubMed:19187761,ECO:0000269|PubMed:26886794;Dbxref=PMID:19187761,PMID:26886794 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 3883_3883 1444 3973 not_retained Binding site Note=S-adenosyl-L-methionine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000255,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:2W5Z,ECO:0000244|PDB:5F5E,ECO:0000255|PROSITE-ProRule:PRU00190,ECO:0000269|PubMed:19187761,ECO:0000269|PubMed:26886794;Dbxref=PMID:19187761,PMID:26886794 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 3958_3958 1444 3973 not_retained Binding site Note=S-adenosyl-L-methionine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000255,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:2W5Y,ECO:0000244|PDB:5F5E,ECO:0000244|PDB:5F6L,ECO:0000255|PROSITE-ProRule:PRU00190,ECO:0000269|PubMed:19187761,ECO:0000269|PubMed:26886794;Dbxref=PMID:19187761,PMID:26886794 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1334_1335 1444 3973 retained Site Note=Breakpoint for translocation to form KMT2A-ZFYVE19 oncogene Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1362_1363 1444 3973 retained Site Note=Breakpoint for translocation to form KMT2A-CENPK oncogene Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1362_1363 1444 3973 retained Site Note=Breakpoint for translocation to form KMT2A-CENPK oncogene Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1362_1362 1444 3973 retained Site Note=Breakpoint for translocation to form KMT2A-FRYL fusion protein Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1406_1407 1444 3973 retained Site Note=Breakpoint for translocation to form KMT2A-AFF4 fusion protein Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1444_1445 1444 3973 retained Site Note=Breakpoint for translocation to form KMT2A-LPP Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1444_1445 1444 3973 retained Site Note=Breakpoint for translocation to form KMT2A-LPP Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 2666_2667 1444 3973 not_retained Mutagenesis Note=Reduces cleavage without abolishing it. Abolishes cleavage by TASP1%3B when associated with 2718-A--A-2720. DG->AA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14636557;Dbxref=PMID:14636557 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 2718_2719 1444 3973 not_retained Site Note=Cleavage%3B by TASP1%2C site 2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14636557;Dbxref=PMID:14636557 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 3765_3765 1444 3973 not_retained Site Note=Important for WDR5-recognition and binding;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19556245;Dbxref=PMID:19556245 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 153_153 1444 3973 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:20068231;Dbxref=PMID:18669648,PMID:19690332,PMID:20068231 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 197_197 1444 3973 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231;Dbxref=PMID:18669648,PMID:20068231 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 239_239 1444 3973 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P55200 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 373_373 1444 3973 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P55200 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 518_518 1444 3973 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 636_636 1444 3973 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 680_680 1444 3973 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 840_840 1444 3973 retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 926_926 1444 3973 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:20068231;Dbxref=PMID:20068231 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1056_1056 1444 3973 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1130_1130 1444 3973 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1235_1235 1444 3973 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1837_1837 1444 3973 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1845_1845 1444 3973 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1858_1858 1444 3973 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:19369195,ECO:0000244|PubMed:23186163;Dbxref=PMID:19369195,PMID:23186163 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 2098_2098 1444 3973 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:19690332,PMID:23186163 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 2147_2147 1444 3973 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 2151_2151 1444 3973 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 2201_2201 1444 3973 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:21406692;Dbxref=PMID:21406692 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 2525_2525 1444 3973 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 2611_2611 1444 3973 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 2796_2796 1444 3973 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 2955_2955 1444 3973 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:20068231,PMID:23186163 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 2958_2958 1444 3973 not_retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P55200 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 3036_3036 1444 3973 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 3372_3372 1444 3973 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231;Dbxref=PMID:18669648,PMID:20068231 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 3462_3462 1444 3973 not_retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P55200 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 3511_3511 1444 3973 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 3515_3515 1444 3973 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19690332;Dbxref=PMID:19690332 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 3527_3527 1444 3973 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 2528_2528 1444 3973 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1407_1444 1444 3973 retained Alternative sequence ID=VSP_006666;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:7598802;Dbxref=PMID:7598802 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1603_1603 1444 3973 not_retained Alternative sequence ID=VSP_046879;Note=In isoform 3. S->SGTE;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10706619,ECO:0000303|PubMed:1423625;Dbxref=PMID:10706619,PMID:1423625 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 30_30 1444 3973 retained Natural variant ID=VAR_021317;Note=A->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8703835;Dbxref=dbSNP:rs9332745,PMID:8703835 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 53_53 1444 3973 retained Natural variant ID=VAR_021318;Note=A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332747 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 502_502 1444 3973 retained Natural variant ID=VAR_021319;Note=E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332772 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1975_1975 1444 3973 not_retained Natural variant ID=VAR_052652;Note=Q->P;Dbxref=dbSNP:rs693598 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 2319_2319 1444 3973 not_retained Natural variant ID=VAR_021320;Note=S->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332837 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 2354_2354 1444 3973 not_retained Natural variant ID=VAR_021321;Note=P->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332838 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 2387_2387 1444 3973 not_retained Natural variant ID=VAR_021322;Note=Q->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332839 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 3714_3714 1444 3973 not_retained Natural variant ID=VAR_021323;Note=V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332859 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 3773_3773 1444 3973 not_retained Natural variant ID=VAR_021324;Note=S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332861 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1150_1150 1444 3973 retained Mutagenesis Note=Impairs DNA-binding. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20010842;Dbxref=PMID:20010842 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1151_1151 1444 3973 retained Mutagenesis Note=Impairs DNA-binding. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1153_1153 1444 3973 retained Mutagenesis Note=No effect on stability or DNA-binding. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1154_1154 1444 3973 retained Mutagenesis Note=Impairs DNA-binding. R->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16990798,ECO:0000269|PubMed:20010842;Dbxref=PMID:16990798,PMID:20010842 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1155_1155 1444 3973 retained Mutagenesis Note=Abolishes zinc-binding and stability of the CXXC-type zinc finger and causes loss of DNA-binding. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1158_1158 1444 3973 retained Mutagenesis Note=Abolishes zinc-binding and stability of the CXXC-type zinc finger and causes loss of DNA-binding. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1161_1161 1444 3973 retained Mutagenesis Note=Abolishes zinc-binding and stability of the CXXC-type zinc finger and causes loss of DNA-binding. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1162_1162 1444 3973 retained Mutagenesis Note=No effect on stability or DNA-binding. Q->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1166_1166 1444 3973 retained Mutagenesis Note=Abolishes zinc-binding and stability of the CXXC-type zinc finger and causes loss of DNA-binding. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1167_1167 1444 3973 retained Mutagenesis Note=Abolishes zinc-binding and stability of the CXXC-type zinc finger and causes loss of DNA-binding. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1170_1170 1444 3973 retained Mutagenesis Note=Abolishes zinc-binding and stability of the CXXC-type zinc finger and causes loss of DNA-binding. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1172_1172 1444 3973 retained Mutagenesis Note=No effect on stability or DNA-binding. N->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1173_1173 1444 3973 retained Mutagenesis Note=Abolishes zinc-binding and stability of the CXXC-type zinc finger and causes loss of DNA-binding. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1175_1175 1444 3973 retained Mutagenesis Note=Impairs DNA-binding. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1176_1176 1444 3973 retained Mutagenesis Note=Impairs DNA-binding. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1178_1181 1444 3973 retained Mutagenesis Note=Abolishes zinc-binding and stability of the CXXC-type zinc finger and causes loss of DNA-binding. KFGG->AAAA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1178_1178 1444 3973 retained Mutagenesis Note=Impairs DNA-binding. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1179_1179 1444 3973 retained Mutagenesis Note=Impairs DNA-binding. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1183_1183 1444 3973 retained Mutagenesis Note=Impairs DNA-binding. N->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1185_1185 1444 3973 retained Mutagenesis Note=Impairs DNA-binding. K->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16990798,ECO:0000269|PubMed:20010842;Dbxref=PMID:16990798,PMID:20010842 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1186_1186 1444 3973 retained Mutagenesis Note=Impairs DNA-binding. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1187_1187 1444 3973 retained Mutagenesis Note=Impairs DNA-binding. Q->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16990798,ECO:0000269|PubMed:20010842;Dbxref=PMID:16990798,PMID:20010842 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1188_1188 1444 3973 retained Mutagenesis Note=Abolishes DNA-binding and increases CpG methylation of the HOXA9 promoter region. Does not lead to the development of leukemia when overexpressed in mice as gene fusion with MLLT3. C->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20010842;Dbxref=PMID:20010842 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1188_1188 1444 3973 retained Mutagenesis Note=Abolishes DNA-binding and increases CpG methylation of the HOXA9 promoter region. Does not lead to the development of leukemia when overexpressed in mice as gene fusion with MLLT3. C->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20010842;Dbxref=PMID:20010842 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1189_1189 1444 3973 retained Mutagenesis Note=Abolishes zinc-binding and stability of the CXXC-type zinc finger and causes loss of DNA-binding. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1192_1192 1444 3973 retained Mutagenesis Note=Abolishes zinc-binding and stability of the CXXC-type zinc finger and causes loss of DNA-binding. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1193_1193 1444 3973 retained Mutagenesis Note=Impairs DNA-binding. K->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16990798,ECO:0000269|PubMed:20010842;Dbxref=PMID:16990798,PMID:20010842 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1194_1194 1444 3973 retained Mutagenesis Note=Impairs zinc-binding and stability of the CXXC-type zinc finger and causes loss of DNA-binding. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1195_1195 1444 3973 retained Mutagenesis Note=No effect on stability or DNA-binding. Q->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1196_1196 1444 3973 retained Mutagenesis Note=No effect on stability or DNA-binding. N->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1197_1197 1444 3973 retained Mutagenesis Note=Mildly decreases DNA-binding. L->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20010842;Dbxref=PMID:20010842 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1200_1200 1444 3973 retained Mutagenesis Note=No effect on DNA-binding. M->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20010842;Dbxref=PMID:20010842 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1581_1581 1444 3973 not_retained Mutagenesis Note=Decreases affinity for histone H3K4me3. Y->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20541251;Dbxref=PMID:20541251 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1587_1587 1444 3973 not_retained Mutagenesis Note=Decreases affinity for histone H3K4me3. Q->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20541251;Dbxref=PMID:20541251 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1594_1594 1444 3973 not_retained Mutagenesis Note=Decreases affinity for histone H3K4me3. W->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20541251;Dbxref=PMID:20541251 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1594_1594 1444 3973 not_retained Mutagenesis Note=Decreases affinity for histone H3K4me3. W->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20541251;Dbxref=PMID:20541251 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1617_1617 1444 3973 not_retained Mutagenesis Note=Decreases binding affinity for PPIE. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20677832;Dbxref=PMID:20677832 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1619_1619 1444 3973 not_retained Mutagenesis Note=May perturb protein folding and thereby decrease binding affinity for PPIE. Y->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20677832;Dbxref=PMID:20677832 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 2666_2667 1444 3973 not_retained Mutagenesis Note=Reduces cleavage without abolishing it. Abolishes cleavage by TASP1%3B when associated with 2718-A--A-2720. DG->AA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14636557;Dbxref=PMID:14636557 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 2718_2720 1444 3973 not_retained Mutagenesis Note=Abolishes cleavage by TASP1%3B when associated with 2666-A-A-2667. DGV->AAA;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12482972,ECO:0000269|PubMed:14636557;Dbxref=PMID:12482972,PMID:14636557 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 3858_3858 1444 3973 not_retained Mutagenesis Note=Slightly affects methyltransferase activity toward unmodified or monomethylated H3K4me. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19187761;Dbxref=PMID:19187761 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 3858_3858 1444 3973 not_retained Mutagenesis Note=Slightly affects methyltransferase activity toward unmodified or monomethylated H3K4me. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19187761;Dbxref=PMID:19187761 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 3861_3861 1444 3973 not_retained Mutagenesis Note=Leads to stable interaction with ASH2L and RBBP5 in the absence of WDR5%3B when associated with V-3867. N->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26886794;Dbxref=PMID:26886794 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 3861_3861 1444 3973 not_retained Mutagenesis Note=Leads to stable interaction with ASH2L and RBBP5 in the absence of WDR5%3B when associated with V-3867. N->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26886794;Dbxref=PMID:26886794 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 3864_3864 1444 3973 not_retained Mutagenesis Note=Disrupts interaction with ASH2L and RBBP5 and nearly abolishes histone methyltransferase activity. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26886794;Dbxref=PMID:26886794 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 3867_3867 1444 3973 not_retained Mutagenesis Note=Leads to stable interaction with ASH2L and RBBP5 in the absence of WDR5%3B when associated with T-3861. Q->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26886794;Dbxref=PMID:26886794 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 3867_3867 1444 3973 not_retained Mutagenesis Note=Leads to stable interaction with ASH2L and RBBP5 in the absence of WDR5%3B when associated with T-3861. Q->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26886794;Dbxref=PMID:26886794 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 3867_3867 1444 3973 not_retained Mutagenesis Note=Leads to stable interaction with ASH2L and RBBP5 in the absence of WDR5%3B when associated with T-3861. Q->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26886794;Dbxref=PMID:26886794 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 3869_3869 1444 3973 not_retained Mutagenesis Note=Does not affect methyltransferase activity of the enzyme alone or in complex%3B when associated with A-3872. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19187761;Dbxref=PMID:19187761 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 3871_3871 1444 3973 not_retained Mutagenesis Note=Slightly affects methyltransferase activity of the enzyme alone%2C while it impairs methyltransferase activity in complex%3B when associated with A-3867. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19187761;Dbxref=PMID:19187761 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 3872_3872 1444 3973 not_retained Mutagenesis Note=Does not affect methyltransferase activity of the enzyme alone or in complex%3B when associated with A-3869. E->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19187761;Dbxref=PMID:19187761 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 3874_3874 1444 3973 not_retained Mutagenesis Note=Affects methyltransferase activity of the enzyme alone%2C while it does not affect methyltransferase activity in complex%3B when associated with A-3878. Y->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19187761;Dbxref=PMID:19187761 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 3878_3878 1444 3973 not_retained Mutagenesis Note=Affects methyltransferase activity of the enzyme alone%2C while it does not affect methyltransferase activity in complex%3B when associated with A-3874. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19187761;Dbxref=PMID:19187761 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 3906_3906 1444 3973 not_retained Mutagenesis Note=Loss of the histone H3 methyltransferase activity. N->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19556245;Dbxref=PMID:19556245 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 3942_3942 1444 3973 not_retained Mutagenesis Note=Shifts from a specific monomethyltransferase to a di- and trimethyltransferase activity. Y->F;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19187761,ECO:0000269|PubMed:19556245;Dbxref=PMID:19187761,PMID:19556245 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 3942_3942 1444 3973 not_retained Mutagenesis Note=Shifts from a specific monomethyltransferase to a di- and trimethyltransferase activity. Y->F;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19187761,ECO:0000269|PubMed:19556245;Dbxref=PMID:19187761,PMID:19556245 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 144_144 1444 3973 retained Sequence conflict Note=E->ELTTQIPCSWRTKGHIHDKKTEPFRLLAWSWCLN;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 556_556 1444 3973 retained Sequence conflict Note=Q->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 556_556 1444 3973 retained Sequence conflict Note=Q->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1347_1347 1444 3973 retained Sequence conflict Note=V->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1487_1487 1444 3973 not_retained Sequence conflict Note=R->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1490_1490 1444 3973 not_retained Sequence conflict Note=Q->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1507_1507 1444 3973 not_retained Sequence conflict Note=P->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1513_1513 1444 3973 not_retained Sequence conflict Note=N->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1600_1600 1444 3973 not_retained Sequence conflict Note=E->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1616_1616 1444 3973 not_retained Sequence conflict Note=S->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1937_1937 1444 3973 not_retained Sequence conflict Note=Q->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 2181_2181 1444 3973 not_retained Sequence conflict Note=P->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 3556_3556 1444 3973 not_retained Sequence conflict Note=K->N;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 3718_3718 1444 3973 not_retained Sequence conflict Note=R->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 3759_3759 1444 3973 not_retained Sequence conflict Note=N->D;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 3813_3813 1444 3973 not_retained Sequence conflict Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 3901_3901 1444 3973 not_retained Sequence conflict Note=A->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 114_133 1444 3973 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3U88 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 135_138 1444 3973 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MTN Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 150_152 1444 3973 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MSR Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1151_1154 1444 3973 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2J2S Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1156_1158 1444 3973 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NW3 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1159_1162 1444 3973 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NW3 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1168_1170 1444 3973 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NW3 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1171_1175 1444 3973 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NW3 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1177_1179 1444 3973 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NW3 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1183_1185 1444 3973 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2J2S Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1190_1192 1444 3973 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NW3 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1197_1200 1444 3973 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2J2S Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1204_1206 1444 3973 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2J2S Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1566_1568 1444 3973 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQI Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1570_1572 1444 3973 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1575_1577 1444 3973 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQI Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1578_1582 1444 3973 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2KYU Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1585_1587 1444 3973 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1589_1591 1444 3973 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1594_1596 1444 3973 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1597_1599 1444 3973 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1604_1612 1444 3973 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1614_1617 1444 3973 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1622_1624 1444 3973 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1627_1629 1444 3973 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1631_1652 1444 3973 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1655_1661 1444 3973 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1708_1716 1444 3973 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1723_1740 1444 3973 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1745_1765 1444 3973 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 1771_1773 1444 3973 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 2847_2855 1444 3973 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5SVH Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 3764_3766 1444 3973 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4ESG Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 3796_3799 1444 3973 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2W5Y Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 3809_3811 1444 3973 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2W5Y Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 3816_3820 1444 3973 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 3823_3830 1444 3973 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 3831_3835 1444 3973 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 3837_3847 1444 3973 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 3854_3857 1444 3973 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 3860_3864 1444 3973 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 3865_3867 1444 3973 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 3868_3877 1444 3973 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 3884_3886 1444 3973 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 3888_3894 1444 3973 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 3896_3898 1444 3973 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 3901_3904 1444 3973 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 3912_3920 1444 3973 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 3923_3932 1444 3973 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000534358 Q03164 + 10 36 3939_3942 1444 3973 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1_3969 1444 3970 not_retained Chain ID=PRO_0000124876;Note=Histone-lysine N-methyltransferase 2A Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1_2718 1444 3970 not_retained Chain ID=PRO_0000390949;Note=MLL cleavage product N320 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 2719_3969 1444 3970 not_retained Chain ID=PRO_0000390950;Note=MLL cleavage product C180 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1703_1748 1444 3970 not_retained Domain Note=Bromo%3B divergent;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00035 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 2018_2074 1444 3970 not_retained Domain Note=FYR N-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00875 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 3666_3747 1444 3970 not_retained Domain Note=FYR C-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00876 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 3829_3945 1444 3970 not_retained Domain Note=SET;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00190 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 3953_3969 1444 3970 not_retained Domain Note=Post-SET;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00155 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 169_180 1444 3970 retained DNA binding Note=A.T hook 1 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 217_227 1444 3970 retained DNA binding Note=A.T hook 2 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 301_309 1444 3970 retained DNA binding Note=A.T hook 3 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1147_1195 1444 3970 retained Zinc finger Note=CXXC-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00509 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1431_1482 1444 3970 not_retained Zinc finger Note=PHD-type 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00146 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1479_1533 1444 3970 not_retained Zinc finger Note=PHD-type 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00146 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1566_1627 1444 3970 not_retained Zinc finger Note=PHD-type 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00146 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1870_1910 1444 3970 not_retained Zinc finger Note=C2HC pre-PHD-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01146 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1931_1978 1444 3970 not_retained Zinc finger Note=PHD-type 4;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01146 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1584_1600 1444 3970 not_retained Region Note=Interaction with histone H3K4me3;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20677832;Dbxref=PMID:20677832 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 3764_3771 1444 3970 not_retained Region Note=Interaction with WDR5;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18829459;Dbxref=PMID:18829459 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 3906_3907 1444 3970 not_retained Region Note=S-adenosyl-L-methionine binding;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:2W5Y,ECO:0000244|PDB:5F5E,ECO:0000244|PDB:5F6L,ECO:0000269|PubMed:19187761,ECO:0000269|PubMed:26886794;Dbxref=PMID:19187761,PMID:26886794 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 2847_2855 1444 3970 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5SVH Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 17_102 1444 3970 retained Compositional bias Note=Ala/Gly/Ser-rich Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 137_143 1444 3970 retained Compositional bias Note=Poly-Gly Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 561_564 1444 3970 retained Compositional bias Note=Poly-Pro Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 568_571 1444 3970 retained Compositional bias Note=Poly-Pro Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 3909_3909 1444 3970 not_retained Metal binding Note=Zinc;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:2W5Y,ECO:0000244|PDB:2W5Z,ECO:0000244|PDB:5F5E,ECO:0000244|PDB:5F6L,ECO:0000269|PubMed:16990798,ECO:0000269|PubMed:19187761;Dbxref=PMID:16990798,PMID:19187761 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 3957_3957 1444 3970 not_retained Metal binding Note=Zinc;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:2W5Y,ECO:0000244|PDB:2W5Z,ECO:0000244|PDB:5F5E,ECO:0000244|PDB:5F6L,ECO:0000269|PubMed:16990798,ECO:0000269|PubMed:19187761;Dbxref=PMID:16990798,PMID:19187761 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 3959_3959 1444 3970 not_retained Metal binding Note=Zinc;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:2W5Y,ECO:0000244|PDB:2W5Z,ECO:0000244|PDB:5F5E,ECO:0000244|PDB:5F6L,ECO:0000269|PubMed:16990798,ECO:0000269|PubMed:19187761;Dbxref=PMID:16990798,PMID:19187761 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 3964_3964 1444 3970 not_retained Metal binding Note=Zinc;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:2W5Y,ECO:0000244|PDB:2W5Z,ECO:0000244|PDB:5F6L,ECO:0000269|PubMed:16990798,ECO:0000269|PubMed:19187761;Dbxref=PMID:16990798,PMID:19187761 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 3839_3839 1444 3970 not_retained Binding site Note=S-adenosyl-L-methionine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000255,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:2W5Y,ECO:0000244|PDB:5F5E,ECO:0000244|PDB:5F6L,ECO:0000255|PROSITE-ProRule:PRU00190,ECO:0000269|PubMed:19187761,ECO:0000269|PubMed:26886794;Dbxref=PMID:19187761,PMID:26886794 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 3841_3841 1444 3970 not_retained Binding site Note=S-adenosyl-L-methionine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000255,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:2W5Y,ECO:0000244|PDB:5F5E,ECO:0000244|PDB:5F6L,ECO:0000255|PROSITE-ProRule:PRU00190,ECO:0000269|PubMed:19187761,ECO:0000269|PubMed:26886794;Dbxref=PMID:19187761,PMID:26886794 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 3883_3883 1444 3970 not_retained Binding site Note=S-adenosyl-L-methionine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000255,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:2W5Z,ECO:0000244|PDB:5F5E,ECO:0000255|PROSITE-ProRule:PRU00190,ECO:0000269|PubMed:19187761,ECO:0000269|PubMed:26886794;Dbxref=PMID:19187761,PMID:26886794 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 3958_3958 1444 3970 not_retained Binding site Note=S-adenosyl-L-methionine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000255,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:2W5Y,ECO:0000244|PDB:5F5E,ECO:0000244|PDB:5F6L,ECO:0000255|PROSITE-ProRule:PRU00190,ECO:0000269|PubMed:19187761,ECO:0000269|PubMed:26886794;Dbxref=PMID:19187761,PMID:26886794 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1334_1335 1444 3970 retained Site Note=Breakpoint for translocation to form KMT2A-ZFYVE19 oncogene Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1362_1363 1444 3970 retained Site Note=Breakpoint for translocation to form KMT2A-CENPK oncogene Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1362_1363 1444 3970 retained Site Note=Breakpoint for translocation to form KMT2A-CENPK oncogene Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1362_1362 1444 3970 retained Site Note=Breakpoint for translocation to form KMT2A-FRYL fusion protein Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1406_1407 1444 3970 retained Site Note=Breakpoint for translocation to form KMT2A-AFF4 fusion protein Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1444_1445 1444 3970 retained Site Note=Breakpoint for translocation to form KMT2A-LPP Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1444_1445 1444 3970 retained Site Note=Breakpoint for translocation to form KMT2A-LPP Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 2666_2667 1444 3970 not_retained Mutagenesis Note=Reduces cleavage without abolishing it. Abolishes cleavage by TASP1%3B when associated with 2718-A--A-2720. DG->AA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14636557;Dbxref=PMID:14636557 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 2718_2719 1444 3970 not_retained Site Note=Cleavage%3B by TASP1%2C site 2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14636557;Dbxref=PMID:14636557 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 3765_3765 1444 3970 not_retained Site Note=Important for WDR5-recognition and binding;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19556245;Dbxref=PMID:19556245 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 153_153 1444 3970 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:20068231;Dbxref=PMID:18669648,PMID:19690332,PMID:20068231 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 197_197 1444 3970 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231;Dbxref=PMID:18669648,PMID:20068231 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 239_239 1444 3970 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P55200 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 373_373 1444 3970 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P55200 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 518_518 1444 3970 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 636_636 1444 3970 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 680_680 1444 3970 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 840_840 1444 3970 retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 926_926 1444 3970 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:20068231;Dbxref=PMID:20068231 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1056_1056 1444 3970 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1130_1130 1444 3970 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1235_1235 1444 3970 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1837_1837 1444 3970 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1845_1845 1444 3970 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1858_1858 1444 3970 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:19369195,ECO:0000244|PubMed:23186163;Dbxref=PMID:19369195,PMID:23186163 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 2098_2098 1444 3970 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:19690332,PMID:23186163 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 2147_2147 1444 3970 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 2151_2151 1444 3970 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 2201_2201 1444 3970 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:21406692;Dbxref=PMID:21406692 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 2525_2525 1444 3970 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 2611_2611 1444 3970 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 2796_2796 1444 3970 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 2955_2955 1444 3970 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:20068231,PMID:23186163 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 2958_2958 1444 3970 not_retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P55200 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 3036_3036 1444 3970 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 3372_3372 1444 3970 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231;Dbxref=PMID:18669648,PMID:20068231 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 3462_3462 1444 3970 not_retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P55200 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 3511_3511 1444 3970 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 3515_3515 1444 3970 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19690332;Dbxref=PMID:19690332 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 3527_3527 1444 3970 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 2528_2528 1444 3970 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1407_1444 1444 3970 retained Alternative sequence ID=VSP_006666;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:7598802;Dbxref=PMID:7598802 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1603_1603 1444 3970 not_retained Alternative sequence ID=VSP_046879;Note=In isoform 3. S->SGTE;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10706619,ECO:0000303|PubMed:1423625;Dbxref=PMID:10706619,PMID:1423625 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 30_30 1444 3970 retained Natural variant ID=VAR_021317;Note=A->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8703835;Dbxref=dbSNP:rs9332745,PMID:8703835 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 53_53 1444 3970 retained Natural variant ID=VAR_021318;Note=A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332747 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 502_502 1444 3970 retained Natural variant ID=VAR_021319;Note=E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332772 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1975_1975 1444 3970 not_retained Natural variant ID=VAR_052652;Note=Q->P;Dbxref=dbSNP:rs693598 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 2319_2319 1444 3970 not_retained Natural variant ID=VAR_021320;Note=S->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332837 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 2354_2354 1444 3970 not_retained Natural variant ID=VAR_021321;Note=P->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332838 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 2387_2387 1444 3970 not_retained Natural variant ID=VAR_021322;Note=Q->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332839 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 3714_3714 1444 3970 not_retained Natural variant ID=VAR_021323;Note=V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332859 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 3773_3773 1444 3970 not_retained Natural variant ID=VAR_021324;Note=S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332861 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1150_1150 1444 3970 retained Mutagenesis Note=Impairs DNA-binding. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20010842;Dbxref=PMID:20010842 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1151_1151 1444 3970 retained Mutagenesis Note=Impairs DNA-binding. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1153_1153 1444 3970 retained Mutagenesis Note=No effect on stability or DNA-binding. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1154_1154 1444 3970 retained Mutagenesis Note=Impairs DNA-binding. R->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16990798,ECO:0000269|PubMed:20010842;Dbxref=PMID:16990798,PMID:20010842 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1155_1155 1444 3970 retained Mutagenesis Note=Abolishes zinc-binding and stability of the CXXC-type zinc finger and causes loss of DNA-binding. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1158_1158 1444 3970 retained Mutagenesis Note=Abolishes zinc-binding and stability of the CXXC-type zinc finger and causes loss of DNA-binding. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1161_1161 1444 3970 retained Mutagenesis Note=Abolishes zinc-binding and stability of the CXXC-type zinc finger and causes loss of DNA-binding. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1162_1162 1444 3970 retained Mutagenesis Note=No effect on stability or DNA-binding. Q->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1166_1166 1444 3970 retained Mutagenesis Note=Abolishes zinc-binding and stability of the CXXC-type zinc finger and causes loss of DNA-binding. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1167_1167 1444 3970 retained Mutagenesis Note=Abolishes zinc-binding and stability of the CXXC-type zinc finger and causes loss of DNA-binding. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1170_1170 1444 3970 retained Mutagenesis Note=Abolishes zinc-binding and stability of the CXXC-type zinc finger and causes loss of DNA-binding. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1172_1172 1444 3970 retained Mutagenesis Note=No effect on stability or DNA-binding. N->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1173_1173 1444 3970 retained Mutagenesis Note=Abolishes zinc-binding and stability of the CXXC-type zinc finger and causes loss of DNA-binding. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1175_1175 1444 3970 retained Mutagenesis Note=Impairs DNA-binding. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1176_1176 1444 3970 retained Mutagenesis Note=Impairs DNA-binding. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1178_1181 1444 3970 retained Mutagenesis Note=Abolishes zinc-binding and stability of the CXXC-type zinc finger and causes loss of DNA-binding. KFGG->AAAA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1178_1178 1444 3970 retained Mutagenesis Note=Impairs DNA-binding. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1179_1179 1444 3970 retained Mutagenesis Note=Impairs DNA-binding. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1183_1183 1444 3970 retained Mutagenesis Note=Impairs DNA-binding. N->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1185_1185 1444 3970 retained Mutagenesis Note=Impairs DNA-binding. K->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16990798,ECO:0000269|PubMed:20010842;Dbxref=PMID:16990798,PMID:20010842 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1186_1186 1444 3970 retained Mutagenesis Note=Impairs DNA-binding. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1187_1187 1444 3970 retained Mutagenesis Note=Impairs DNA-binding. Q->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16990798,ECO:0000269|PubMed:20010842;Dbxref=PMID:16990798,PMID:20010842 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1188_1188 1444 3970 retained Mutagenesis Note=Abolishes DNA-binding and increases CpG methylation of the HOXA9 promoter region. Does not lead to the development of leukemia when overexpressed in mice as gene fusion with MLLT3. C->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20010842;Dbxref=PMID:20010842 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1188_1188 1444 3970 retained Mutagenesis Note=Abolishes DNA-binding and increases CpG methylation of the HOXA9 promoter region. Does not lead to the development of leukemia when overexpressed in mice as gene fusion with MLLT3. C->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20010842;Dbxref=PMID:20010842 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1189_1189 1444 3970 retained Mutagenesis Note=Abolishes zinc-binding and stability of the CXXC-type zinc finger and causes loss of DNA-binding. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1192_1192 1444 3970 retained Mutagenesis Note=Abolishes zinc-binding and stability of the CXXC-type zinc finger and causes loss of DNA-binding. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1193_1193 1444 3970 retained Mutagenesis Note=Impairs DNA-binding. K->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16990798,ECO:0000269|PubMed:20010842;Dbxref=PMID:16990798,PMID:20010842 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1194_1194 1444 3970 retained Mutagenesis Note=Impairs zinc-binding and stability of the CXXC-type zinc finger and causes loss of DNA-binding. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1195_1195 1444 3970 retained Mutagenesis Note=No effect on stability or DNA-binding. Q->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1196_1196 1444 3970 retained Mutagenesis Note=No effect on stability or DNA-binding. N->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1197_1197 1444 3970 retained Mutagenesis Note=Mildly decreases DNA-binding. L->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20010842;Dbxref=PMID:20010842 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1200_1200 1444 3970 retained Mutagenesis Note=No effect on DNA-binding. M->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20010842;Dbxref=PMID:20010842 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1581_1581 1444 3970 not_retained Mutagenesis Note=Decreases affinity for histone H3K4me3. Y->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20541251;Dbxref=PMID:20541251 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1587_1587 1444 3970 not_retained Mutagenesis Note=Decreases affinity for histone H3K4me3. Q->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20541251;Dbxref=PMID:20541251 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1594_1594 1444 3970 not_retained Mutagenesis Note=Decreases affinity for histone H3K4me3. W->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20541251;Dbxref=PMID:20541251 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1594_1594 1444 3970 not_retained Mutagenesis Note=Decreases affinity for histone H3K4me3. W->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20541251;Dbxref=PMID:20541251 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1617_1617 1444 3970 not_retained Mutagenesis Note=Decreases binding affinity for PPIE. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20677832;Dbxref=PMID:20677832 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1619_1619 1444 3970 not_retained Mutagenesis Note=May perturb protein folding and thereby decrease binding affinity for PPIE. Y->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20677832;Dbxref=PMID:20677832 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 2666_2667 1444 3970 not_retained Mutagenesis Note=Reduces cleavage without abolishing it. Abolishes cleavage by TASP1%3B when associated with 2718-A--A-2720. DG->AA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14636557;Dbxref=PMID:14636557 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 2718_2720 1444 3970 not_retained Mutagenesis Note=Abolishes cleavage by TASP1%3B when associated with 2666-A-A-2667. DGV->AAA;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12482972,ECO:0000269|PubMed:14636557;Dbxref=PMID:12482972,PMID:14636557 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 3858_3858 1444 3970 not_retained Mutagenesis Note=Slightly affects methyltransferase activity toward unmodified or monomethylated H3K4me. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19187761;Dbxref=PMID:19187761 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 3858_3858 1444 3970 not_retained Mutagenesis Note=Slightly affects methyltransferase activity toward unmodified or monomethylated H3K4me. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19187761;Dbxref=PMID:19187761 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 3861_3861 1444 3970 not_retained Mutagenesis Note=Leads to stable interaction with ASH2L and RBBP5 in the absence of WDR5%3B when associated with V-3867. N->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26886794;Dbxref=PMID:26886794 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 3861_3861 1444 3970 not_retained Mutagenesis Note=Leads to stable interaction with ASH2L and RBBP5 in the absence of WDR5%3B when associated with V-3867. N->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26886794;Dbxref=PMID:26886794 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 3864_3864 1444 3970 not_retained Mutagenesis Note=Disrupts interaction with ASH2L and RBBP5 and nearly abolishes histone methyltransferase activity. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26886794;Dbxref=PMID:26886794 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 3867_3867 1444 3970 not_retained Mutagenesis Note=Leads to stable interaction with ASH2L and RBBP5 in the absence of WDR5%3B when associated with T-3861. Q->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26886794;Dbxref=PMID:26886794 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 3867_3867 1444 3970 not_retained Mutagenesis Note=Leads to stable interaction with ASH2L and RBBP5 in the absence of WDR5%3B when associated with T-3861. Q->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26886794;Dbxref=PMID:26886794 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 3867_3867 1444 3970 not_retained Mutagenesis Note=Leads to stable interaction with ASH2L and RBBP5 in the absence of WDR5%3B when associated with T-3861. Q->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26886794;Dbxref=PMID:26886794 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 3869_3869 1444 3970 not_retained Mutagenesis Note=Does not affect methyltransferase activity of the enzyme alone or in complex%3B when associated with A-3872. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19187761;Dbxref=PMID:19187761 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 3871_3871 1444 3970 not_retained Mutagenesis Note=Slightly affects methyltransferase activity of the enzyme alone%2C while it impairs methyltransferase activity in complex%3B when associated with A-3867. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19187761;Dbxref=PMID:19187761 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 3872_3872 1444 3970 not_retained Mutagenesis Note=Does not affect methyltransferase activity of the enzyme alone or in complex%3B when associated with A-3869. E->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19187761;Dbxref=PMID:19187761 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 3874_3874 1444 3970 not_retained Mutagenesis Note=Affects methyltransferase activity of the enzyme alone%2C while it does not affect methyltransferase activity in complex%3B when associated with A-3878. Y->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19187761;Dbxref=PMID:19187761 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 3878_3878 1444 3970 not_retained Mutagenesis Note=Affects methyltransferase activity of the enzyme alone%2C while it does not affect methyltransferase activity in complex%3B when associated with A-3874. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19187761;Dbxref=PMID:19187761 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 3906_3906 1444 3970 not_retained Mutagenesis Note=Loss of the histone H3 methyltransferase activity. N->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19556245;Dbxref=PMID:19556245 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 3942_3942 1444 3970 not_retained Mutagenesis Note=Shifts from a specific monomethyltransferase to a di- and trimethyltransferase activity. Y->F;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19187761,ECO:0000269|PubMed:19556245;Dbxref=PMID:19187761,PMID:19556245 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 3942_3942 1444 3970 not_retained Mutagenesis Note=Shifts from a specific monomethyltransferase to a di- and trimethyltransferase activity. Y->F;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19187761,ECO:0000269|PubMed:19556245;Dbxref=PMID:19187761,PMID:19556245 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 144_144 1444 3970 retained Sequence conflict Note=E->ELTTQIPCSWRTKGHIHDKKTEPFRLLAWSWCLN;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 556_556 1444 3970 retained Sequence conflict Note=Q->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 556_556 1444 3970 retained Sequence conflict Note=Q->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1347_1347 1444 3970 retained Sequence conflict Note=V->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1487_1487 1444 3970 not_retained Sequence conflict Note=R->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1490_1490 1444 3970 not_retained Sequence conflict Note=Q->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1507_1507 1444 3970 not_retained Sequence conflict Note=P->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1513_1513 1444 3970 not_retained Sequence conflict Note=N->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1600_1600 1444 3970 not_retained Sequence conflict Note=E->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1616_1616 1444 3970 not_retained Sequence conflict Note=S->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1937_1937 1444 3970 not_retained Sequence conflict Note=Q->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 2181_2181 1444 3970 not_retained Sequence conflict Note=P->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 3556_3556 1444 3970 not_retained Sequence conflict Note=K->N;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 3718_3718 1444 3970 not_retained Sequence conflict Note=R->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 3759_3759 1444 3970 not_retained Sequence conflict Note=N->D;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 3813_3813 1444 3970 not_retained Sequence conflict Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 3901_3901 1444 3970 not_retained Sequence conflict Note=A->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 114_133 1444 3970 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3U88 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 135_138 1444 3970 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MTN Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 150_152 1444 3970 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MSR Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1151_1154 1444 3970 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2J2S Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1156_1158 1444 3970 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NW3 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1159_1162 1444 3970 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NW3 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1168_1170 1444 3970 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NW3 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1171_1175 1444 3970 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NW3 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1177_1179 1444 3970 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NW3 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1183_1185 1444 3970 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2J2S Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1190_1192 1444 3970 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NW3 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1197_1200 1444 3970 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2J2S Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1204_1206 1444 3970 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2J2S Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1566_1568 1444 3970 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQI Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1570_1572 1444 3970 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1575_1577 1444 3970 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQI Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1578_1582 1444 3970 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2KYU Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1585_1587 1444 3970 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1589_1591 1444 3970 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1594_1596 1444 3970 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1597_1599 1444 3970 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1604_1612 1444 3970 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1614_1617 1444 3970 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1622_1624 1444 3970 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1627_1629 1444 3970 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1631_1652 1444 3970 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1655_1661 1444 3970 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1708_1716 1444 3970 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1723_1740 1444 3970 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1745_1765 1444 3970 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 1771_1773 1444 3970 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 2847_2855 1444 3970 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5SVH Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 3764_3766 1444 3970 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4ESG Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 3796_3799 1444 3970 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2W5Y Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 3809_3811 1444 3970 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2W5Y Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 3816_3820 1444 3970 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 3823_3830 1444 3970 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 3831_3835 1444 3970 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 3837_3847 1444 3970 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 3854_3857 1444 3970 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 3860_3864 1444 3970 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 3865_3867 1444 3970 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 3868_3877 1444 3970 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 3884_3886 1444 3970 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 3888_3894 1444 3970 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 3896_3898 1444 3970 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 3901_3904 1444 3970 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 3912_3920 1444 3970 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 3923_3932 1444 3970 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000389506 Q03164 + 10 36 3939_3942 1444 3970 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1_3969 0 3932 not_retained Chain ID=PRO_0000124876;Note=Histone-lysine N-methyltransferase 2A Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1_2718 0 3932 not_retained Chain ID=PRO_0000390949;Note=MLL cleavage product N320 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 2719_3969 0 3932 not_retained Chain ID=PRO_0000390950;Note=MLL cleavage product C180 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1703_1748 0 3932 not_retained Domain Note=Bromo%3B divergent;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00035 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 2018_2074 0 3932 not_retained Domain Note=FYR N-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00875 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 3666_3747 0 3932 not_retained Domain Note=FYR C-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00876 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 3829_3945 0 3932 not_retained Domain Note=SET;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00190 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 3953_3969 0 3932 not_retained Domain Note=Post-SET;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00155 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 169_180 0 3932 not_retained DNA binding Note=A.T hook 1 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 217_227 0 3932 not_retained DNA binding Note=A.T hook 2 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 301_309 0 3932 not_retained DNA binding Note=A.T hook 3 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1147_1195 0 3932 not_retained Zinc finger Note=CXXC-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00509 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1431_1482 0 3932 not_retained Zinc finger Note=PHD-type 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00146 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1479_1533 0 3932 not_retained Zinc finger Note=PHD-type 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00146 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1566_1627 0 3932 not_retained Zinc finger Note=PHD-type 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00146 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1870_1910 0 3932 not_retained Zinc finger Note=C2HC pre-PHD-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01146 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1931_1978 0 3932 not_retained Zinc finger Note=PHD-type 4;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01146 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1584_1600 0 3932 not_retained Region Note=Interaction with histone H3K4me3;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20677832;Dbxref=PMID:20677832 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 3764_3771 0 3932 not_retained Region Note=Interaction with WDR5;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18829459;Dbxref=PMID:18829459 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 3906_3907 0 3932 not_retained Region Note=S-adenosyl-L-methionine binding;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:2W5Y,ECO:0000244|PDB:5F5E,ECO:0000244|PDB:5F6L,ECO:0000269|PubMed:19187761,ECO:0000269|PubMed:26886794;Dbxref=PMID:19187761,PMID:26886794 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 2847_2855 0 3932 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5SVH Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 17_102 0 3932 not_retained Compositional bias Note=Ala/Gly/Ser-rich Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 137_143 0 3932 not_retained Compositional bias Note=Poly-Gly Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 561_564 0 3932 not_retained Compositional bias Note=Poly-Pro Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 568_571 0 3932 not_retained Compositional bias Note=Poly-Pro Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 3909_3909 0 3932 not_retained Metal binding Note=Zinc;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:2W5Y,ECO:0000244|PDB:2W5Z,ECO:0000244|PDB:5F5E,ECO:0000244|PDB:5F6L,ECO:0000269|PubMed:16990798,ECO:0000269|PubMed:19187761;Dbxref=PMID:16990798,PMID:19187761 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 3957_3957 0 3932 not_retained Metal binding Note=Zinc;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:2W5Y,ECO:0000244|PDB:2W5Z,ECO:0000244|PDB:5F5E,ECO:0000244|PDB:5F6L,ECO:0000269|PubMed:16990798,ECO:0000269|PubMed:19187761;Dbxref=PMID:16990798,PMID:19187761 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 3959_3959 0 3932 not_retained Metal binding Note=Zinc;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:2W5Y,ECO:0000244|PDB:2W5Z,ECO:0000244|PDB:5F5E,ECO:0000244|PDB:5F6L,ECO:0000269|PubMed:16990798,ECO:0000269|PubMed:19187761;Dbxref=PMID:16990798,PMID:19187761 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 3964_3964 0 3932 not_retained Metal binding Note=Zinc;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:2W5Y,ECO:0000244|PDB:2W5Z,ECO:0000244|PDB:5F6L,ECO:0000269|PubMed:16990798,ECO:0000269|PubMed:19187761;Dbxref=PMID:16990798,PMID:19187761 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 3839_3839 0 3932 not_retained Binding site Note=S-adenosyl-L-methionine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000255,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:2W5Y,ECO:0000244|PDB:5F5E,ECO:0000244|PDB:5F6L,ECO:0000255|PROSITE-ProRule:PRU00190,ECO:0000269|PubMed:19187761,ECO:0000269|PubMed:26886794;Dbxref=PMID:19187761,PMID:26886794 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 3841_3841 0 3932 not_retained Binding site Note=S-adenosyl-L-methionine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000255,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:2W5Y,ECO:0000244|PDB:5F5E,ECO:0000244|PDB:5F6L,ECO:0000255|PROSITE-ProRule:PRU00190,ECO:0000269|PubMed:19187761,ECO:0000269|PubMed:26886794;Dbxref=PMID:19187761,PMID:26886794 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 3883_3883 0 3932 not_retained Binding site Note=S-adenosyl-L-methionine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000255,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:2W5Z,ECO:0000244|PDB:5F5E,ECO:0000255|PROSITE-ProRule:PRU00190,ECO:0000269|PubMed:19187761,ECO:0000269|PubMed:26886794;Dbxref=PMID:19187761,PMID:26886794 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 3958_3958 0 3932 not_retained Binding site Note=S-adenosyl-L-methionine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000255,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:2W5Y,ECO:0000244|PDB:5F5E,ECO:0000244|PDB:5F6L,ECO:0000255|PROSITE-ProRule:PRU00190,ECO:0000269|PubMed:19187761,ECO:0000269|PubMed:26886794;Dbxref=PMID:19187761,PMID:26886794 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1334_1335 0 3932 not_retained Site Note=Breakpoint for translocation to form KMT2A-ZFYVE19 oncogene Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1362_1363 0 3932 not_retained Site Note=Breakpoint for translocation to form KMT2A-CENPK oncogene Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1362_1363 0 3932 not_retained Site Note=Breakpoint for translocation to form KMT2A-CENPK oncogene Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1362_1362 0 3932 not_retained Site Note=Breakpoint for translocation to form KMT2A-FRYL fusion protein Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1406_1407 0 3932 not_retained Site Note=Breakpoint for translocation to form KMT2A-AFF4 fusion protein Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1444_1445 0 3932 not_retained Site Note=Breakpoint for translocation to form KMT2A-LPP Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1444_1445 0 3932 not_retained Site Note=Breakpoint for translocation to form KMT2A-LPP Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 2666_2667 0 3932 not_retained Mutagenesis Note=Reduces cleavage without abolishing it. Abolishes cleavage by TASP1%3B when associated with 2718-A--A-2720. DG->AA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14636557;Dbxref=PMID:14636557 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 2718_2719 0 3932 not_retained Site Note=Cleavage%3B by TASP1%2C site 2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14636557;Dbxref=PMID:14636557 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 3765_3765 0 3932 not_retained Site Note=Important for WDR5-recognition and binding;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19556245;Dbxref=PMID:19556245 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 153_153 0 3932 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:20068231;Dbxref=PMID:18669648,PMID:19690332,PMID:20068231 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 197_197 0 3932 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231;Dbxref=PMID:18669648,PMID:20068231 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 239_239 0 3932 not_retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P55200 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 373_373 0 3932 not_retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P55200 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 518_518 0 3932 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 636_636 0 3932 not_retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 680_680 0 3932 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 840_840 0 3932 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 926_926 0 3932 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:20068231;Dbxref=PMID:20068231 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1056_1056 0 3932 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1130_1130 0 3932 not_retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1235_1235 0 3932 not_retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1837_1837 0 3932 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1845_1845 0 3932 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1858_1858 0 3932 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:19369195,ECO:0000244|PubMed:23186163;Dbxref=PMID:19369195,PMID:23186163 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 2098_2098 0 3932 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:19690332,PMID:23186163 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 2147_2147 0 3932 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 2151_2151 0 3932 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 2201_2201 0 3932 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:21406692;Dbxref=PMID:21406692 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 2525_2525 0 3932 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 2611_2611 0 3932 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 2796_2796 0 3932 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 2955_2955 0 3932 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:20068231,PMID:23186163 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 2958_2958 0 3932 not_retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P55200 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 3036_3036 0 3932 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 3372_3372 0 3932 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231;Dbxref=PMID:18669648,PMID:20068231 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 3462_3462 0 3932 not_retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P55200 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 3511_3511 0 3932 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 3515_3515 0 3932 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19690332;Dbxref=PMID:19690332 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 3527_3527 0 3932 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 2528_2528 0 3932 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1407_1444 0 3932 not_retained Alternative sequence ID=VSP_006666;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:7598802;Dbxref=PMID:7598802 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1603_1603 0 3932 not_retained Alternative sequence ID=VSP_046879;Note=In isoform 3. S->SGTE;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10706619,ECO:0000303|PubMed:1423625;Dbxref=PMID:10706619,PMID:1423625 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 30_30 0 3932 not_retained Natural variant ID=VAR_021317;Note=A->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8703835;Dbxref=dbSNP:rs9332745,PMID:8703835 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 53_53 0 3932 not_retained Natural variant ID=VAR_021318;Note=A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332747 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 502_502 0 3932 not_retained Natural variant ID=VAR_021319;Note=E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332772 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1975_1975 0 3932 not_retained Natural variant ID=VAR_052652;Note=Q->P;Dbxref=dbSNP:rs693598 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 2319_2319 0 3932 not_retained Natural variant ID=VAR_021320;Note=S->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332837 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 2354_2354 0 3932 not_retained Natural variant ID=VAR_021321;Note=P->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332838 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 2387_2387 0 3932 not_retained Natural variant ID=VAR_021322;Note=Q->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332839 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 3714_3714 0 3932 not_retained Natural variant ID=VAR_021323;Note=V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332859 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 3773_3773 0 3932 not_retained Natural variant ID=VAR_021324;Note=S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332861 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1150_1150 0 3932 not_retained Mutagenesis Note=Impairs DNA-binding. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20010842;Dbxref=PMID:20010842 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1151_1151 0 3932 not_retained Mutagenesis Note=Impairs DNA-binding. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1153_1153 0 3932 not_retained Mutagenesis Note=No effect on stability or DNA-binding. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1154_1154 0 3932 not_retained Mutagenesis Note=Impairs DNA-binding. R->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16990798,ECO:0000269|PubMed:20010842;Dbxref=PMID:16990798,PMID:20010842 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1155_1155 0 3932 not_retained Mutagenesis Note=Abolishes zinc-binding and stability of the CXXC-type zinc finger and causes loss of DNA-binding. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1158_1158 0 3932 not_retained Mutagenesis Note=Abolishes zinc-binding and stability of the CXXC-type zinc finger and causes loss of DNA-binding. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1161_1161 0 3932 not_retained Mutagenesis Note=Abolishes zinc-binding and stability of the CXXC-type zinc finger and causes loss of DNA-binding. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1162_1162 0 3932 not_retained Mutagenesis Note=No effect on stability or DNA-binding. Q->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1166_1166 0 3932 not_retained Mutagenesis Note=Abolishes zinc-binding and stability of the CXXC-type zinc finger and causes loss of DNA-binding. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1167_1167 0 3932 not_retained Mutagenesis Note=Abolishes zinc-binding and stability of the CXXC-type zinc finger and causes loss of DNA-binding. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1170_1170 0 3932 not_retained Mutagenesis Note=Abolishes zinc-binding and stability of the CXXC-type zinc finger and causes loss of DNA-binding. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1172_1172 0 3932 not_retained Mutagenesis Note=No effect on stability or DNA-binding. N->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1173_1173 0 3932 not_retained Mutagenesis Note=Abolishes zinc-binding and stability of the CXXC-type zinc finger and causes loss of DNA-binding. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1175_1175 0 3932 not_retained Mutagenesis Note=Impairs DNA-binding. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1176_1176 0 3932 not_retained Mutagenesis Note=Impairs DNA-binding. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1178_1181 0 3932 not_retained Mutagenesis Note=Abolishes zinc-binding and stability of the CXXC-type zinc finger and causes loss of DNA-binding. KFGG->AAAA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1178_1178 0 3932 not_retained Mutagenesis Note=Impairs DNA-binding. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1179_1179 0 3932 not_retained Mutagenesis Note=Impairs DNA-binding. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1183_1183 0 3932 not_retained Mutagenesis Note=Impairs DNA-binding. N->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1185_1185 0 3932 not_retained Mutagenesis Note=Impairs DNA-binding. K->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16990798,ECO:0000269|PubMed:20010842;Dbxref=PMID:16990798,PMID:20010842 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1186_1186 0 3932 not_retained Mutagenesis Note=Impairs DNA-binding. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1187_1187 0 3932 not_retained Mutagenesis Note=Impairs DNA-binding. Q->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16990798,ECO:0000269|PubMed:20010842;Dbxref=PMID:16990798,PMID:20010842 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1188_1188 0 3932 not_retained Mutagenesis Note=Abolishes DNA-binding and increases CpG methylation of the HOXA9 promoter region. Does not lead to the development of leukemia when overexpressed in mice as gene fusion with MLLT3. C->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20010842;Dbxref=PMID:20010842 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1188_1188 0 3932 not_retained Mutagenesis Note=Abolishes DNA-binding and increases CpG methylation of the HOXA9 promoter region. Does not lead to the development of leukemia when overexpressed in mice as gene fusion with MLLT3. C->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20010842;Dbxref=PMID:20010842 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1189_1189 0 3932 not_retained Mutagenesis Note=Abolishes zinc-binding and stability of the CXXC-type zinc finger and causes loss of DNA-binding. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1192_1192 0 3932 not_retained Mutagenesis Note=Abolishes zinc-binding and stability of the CXXC-type zinc finger and causes loss of DNA-binding. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1193_1193 0 3932 not_retained Mutagenesis Note=Impairs DNA-binding. K->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16990798,ECO:0000269|PubMed:20010842;Dbxref=PMID:16990798,PMID:20010842 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1194_1194 0 3932 not_retained Mutagenesis Note=Impairs zinc-binding and stability of the CXXC-type zinc finger and causes loss of DNA-binding. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1195_1195 0 3932 not_retained Mutagenesis Note=No effect on stability or DNA-binding. Q->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1196_1196 0 3932 not_retained Mutagenesis Note=No effect on stability or DNA-binding. N->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1197_1197 0 3932 not_retained Mutagenesis Note=Mildly decreases DNA-binding. L->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20010842;Dbxref=PMID:20010842 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1200_1200 0 3932 not_retained Mutagenesis Note=No effect on DNA-binding. M->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20010842;Dbxref=PMID:20010842 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1581_1581 0 3932 not_retained Mutagenesis Note=Decreases affinity for histone H3K4me3. Y->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20541251;Dbxref=PMID:20541251 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1587_1587 0 3932 not_retained Mutagenesis Note=Decreases affinity for histone H3K4me3. Q->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20541251;Dbxref=PMID:20541251 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1594_1594 0 3932 not_retained Mutagenesis Note=Decreases affinity for histone H3K4me3. W->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20541251;Dbxref=PMID:20541251 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1594_1594 0 3932 not_retained Mutagenesis Note=Decreases affinity for histone H3K4me3. W->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20541251;Dbxref=PMID:20541251 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1617_1617 0 3932 not_retained Mutagenesis Note=Decreases binding affinity for PPIE. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20677832;Dbxref=PMID:20677832 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1619_1619 0 3932 not_retained Mutagenesis Note=May perturb protein folding and thereby decrease binding affinity for PPIE. Y->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20677832;Dbxref=PMID:20677832 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 2666_2667 0 3932 not_retained Mutagenesis Note=Reduces cleavage without abolishing it. Abolishes cleavage by TASP1%3B when associated with 2718-A--A-2720. DG->AA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14636557;Dbxref=PMID:14636557 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 2718_2720 0 3932 not_retained Mutagenesis Note=Abolishes cleavage by TASP1%3B when associated with 2666-A-A-2667. DGV->AAA;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12482972,ECO:0000269|PubMed:14636557;Dbxref=PMID:12482972,PMID:14636557 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 3858_3858 0 3932 not_retained Mutagenesis Note=Slightly affects methyltransferase activity toward unmodified or monomethylated H3K4me. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19187761;Dbxref=PMID:19187761 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 3858_3858 0 3932 not_retained Mutagenesis Note=Slightly affects methyltransferase activity toward unmodified or monomethylated H3K4me. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19187761;Dbxref=PMID:19187761 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 3861_3861 0 3932 not_retained Mutagenesis Note=Leads to stable interaction with ASH2L and RBBP5 in the absence of WDR5%3B when associated with V-3867. N->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26886794;Dbxref=PMID:26886794 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 3861_3861 0 3932 not_retained Mutagenesis Note=Leads to stable interaction with ASH2L and RBBP5 in the absence of WDR5%3B when associated with V-3867. N->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26886794;Dbxref=PMID:26886794 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 3864_3864 0 3932 not_retained Mutagenesis Note=Disrupts interaction with ASH2L and RBBP5 and nearly abolishes histone methyltransferase activity. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26886794;Dbxref=PMID:26886794 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 3867_3867 0 3932 not_retained Mutagenesis Note=Leads to stable interaction with ASH2L and RBBP5 in the absence of WDR5%3B when associated with T-3861. Q->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26886794;Dbxref=PMID:26886794 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 3867_3867 0 3932 not_retained Mutagenesis Note=Leads to stable interaction with ASH2L and RBBP5 in the absence of WDR5%3B when associated with T-3861. Q->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26886794;Dbxref=PMID:26886794 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 3867_3867 0 3932 not_retained Mutagenesis Note=Leads to stable interaction with ASH2L and RBBP5 in the absence of WDR5%3B when associated with T-3861. Q->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26886794;Dbxref=PMID:26886794 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 3869_3869 0 3932 not_retained Mutagenesis Note=Does not affect methyltransferase activity of the enzyme alone or in complex%3B when associated with A-3872. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19187761;Dbxref=PMID:19187761 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 3871_3871 0 3932 not_retained Mutagenesis Note=Slightly affects methyltransferase activity of the enzyme alone%2C while it impairs methyltransferase activity in complex%3B when associated with A-3867. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19187761;Dbxref=PMID:19187761 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 3872_3872 0 3932 not_retained Mutagenesis Note=Does not affect methyltransferase activity of the enzyme alone or in complex%3B when associated with A-3869. E->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19187761;Dbxref=PMID:19187761 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 3874_3874 0 3932 not_retained Mutagenesis Note=Affects methyltransferase activity of the enzyme alone%2C while it does not affect methyltransferase activity in complex%3B when associated with A-3878. Y->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19187761;Dbxref=PMID:19187761 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 3878_3878 0 3932 not_retained Mutagenesis Note=Affects methyltransferase activity of the enzyme alone%2C while it does not affect methyltransferase activity in complex%3B when associated with A-3874. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19187761;Dbxref=PMID:19187761 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 3906_3906 0 3932 not_retained Mutagenesis Note=Loss of the histone H3 methyltransferase activity. N->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19556245;Dbxref=PMID:19556245 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 3942_3942 0 3932 not_retained Mutagenesis Note=Shifts from a specific monomethyltransferase to a di- and trimethyltransferase activity. Y->F;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19187761,ECO:0000269|PubMed:19556245;Dbxref=PMID:19187761,PMID:19556245 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 3942_3942 0 3932 not_retained Mutagenesis Note=Shifts from a specific monomethyltransferase to a di- and trimethyltransferase activity. Y->F;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19187761,ECO:0000269|PubMed:19556245;Dbxref=PMID:19187761,PMID:19556245 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 144_144 0 3932 not_retained Sequence conflict Note=E->ELTTQIPCSWRTKGHIHDKKTEPFRLLAWSWCLN;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 556_556 0 3932 not_retained Sequence conflict Note=Q->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 556_556 0 3932 not_retained Sequence conflict Note=Q->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1347_1347 0 3932 not_retained Sequence conflict Note=V->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1487_1487 0 3932 not_retained Sequence conflict Note=R->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1490_1490 0 3932 not_retained Sequence conflict Note=Q->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1507_1507 0 3932 not_retained Sequence conflict Note=P->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1513_1513 0 3932 not_retained Sequence conflict Note=N->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1600_1600 0 3932 not_retained Sequence conflict Note=E->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1616_1616 0 3932 not_retained Sequence conflict Note=S->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1937_1937 0 3932 not_retained Sequence conflict Note=Q->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 2181_2181 0 3932 not_retained Sequence conflict Note=P->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 3556_3556 0 3932 not_retained Sequence conflict Note=K->N;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 3718_3718 0 3932 not_retained Sequence conflict Note=R->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 3759_3759 0 3932 not_retained Sequence conflict Note=N->D;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 3813_3813 0 3932 not_retained Sequence conflict Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 3901_3901 0 3932 not_retained Sequence conflict Note=A->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 114_133 0 3932 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3U88 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 135_138 0 3932 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MTN Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 150_152 0 3932 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MSR Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1151_1154 0 3932 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2J2S Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1156_1158 0 3932 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NW3 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1159_1162 0 3932 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NW3 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1168_1170 0 3932 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NW3 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1171_1175 0 3932 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NW3 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1177_1179 0 3932 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NW3 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1183_1185 0 3932 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2J2S Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1190_1192 0 3932 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NW3 Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1197_1200 0 3932 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2J2S Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1204_1206 0 3932 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2J2S Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1566_1568 0 3932 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQI Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1570_1572 0 3932 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1575_1577 0 3932 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQI Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1578_1582 0 3932 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2KYU Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1585_1587 0 3932 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1589_1591 0 3932 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1594_1596 0 3932 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1597_1599 0 3932 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1604_1612 0 3932 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1614_1617 0 3932 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1622_1624 0 3932 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1627_1629 0 3932 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1631_1652 0 3932 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1655_1661 0 3932 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1708_1716 0 3932 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1723_1740 0 3932 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1745_1765 0 3932 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 1771_1773 0 3932 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 2847_2855 0 3932 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5SVH Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 3764_3766 0 3932 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4ESG Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 3796_3799 0 3932 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2W5Y Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 3809_3811 0 3932 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2W5Y Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 3816_3820 0 3932 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 3823_3830 0 3932 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 3831_3835 0 3932 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 3837_3847 0 3932 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 3854_3857 0 3932 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 3860_3864 0 3932 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 3865_3867 0 3932 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 3868_3877 0 3932 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 3884_3886 0 3932 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 3888_3894 0 3932 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 3896_3898 0 3932 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 3901_3904 0 3932 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 3912_3920 0 3932 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 3923_3932 0 3932 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000354520 Q03164 + 1 35 3939_3942 0 3932 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000370056 Q9UKW4 - 2 27 1_847 107 848 not_retained Chain ID=PRO_0000080986;Note=Guanine nucleotide exchange factor VAV3 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000370056 Q9UKW4 - 2 27 1_119 107 848 not_retained Domain Note=Calponin-homology (CH);Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00044 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000370056 Q9UKW4 - 2 27 192_371 107 848 not_retained Domain Note=DH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00062 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000370056 Q9UKW4 - 2 27 400_502 107 848 not_retained Domain Note=PH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00145 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000370056 Q9UKW4 - 2 27 592_660 107 848 not_retained Domain Note=SH3 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00192 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000370056 Q9UKW4 - 2 27 672_766 107 848 not_retained Domain Note=SH2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00191 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000370056 Q9UKW4 - 2 27 788_847 107 848 not_retained Domain Note=SH3 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00192 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000370056 Q9UKW4 - 2 27 513_562 107 848 not_retained Zinc finger Note=Phorbol-ester/DAG-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00226 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000370056 Q9UKW4 - 2 27 560_847 107 848 not_retained Region Note=Sufficient for interaction with ROS1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11094073;Dbxref=PMID:11094073 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000370056 Q9UKW4 - 2 27 141_141 107 848 not_retained Modified residue Note=Phosphotyrosine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19690332;Dbxref=PMID:19690332 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000370056 Q9UKW4 - 2 27 1_560 107 848 not_retained Alternative sequence ID=VSP_041360;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:9705494;Dbxref=PMID:14702039,PMID:9705494 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000370056 Q9UKW4 - 2 27 1_107 107 848 retained Alternative sequence ID=VSP_001820;Note=In isoform 2. MEPWKQCAQWLIHCKVLPTNHRVTWDSAQVFDLAQTLRDGVLLCQLLNNLRAHSINLKEINLRPQMSQFLCLKNIRTFLTACCETFGMRKSELFEAFDLFDVRDFGK->MQLPDCPCRAHLP;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10523675;Dbxref=PMID:10523675 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000370056 Q9UKW4 - 2 27 561_568 107 848 not_retained Alternative sequence ID=VSP_041361;Note=In isoform 3. NCGRVNSG->MPIFTFLS;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:9705494;Dbxref=PMID:14702039,PMID:9705494 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000370056 Q9UKW4 - 2 27 783_784 107 848 not_retained Alternative sequence ID=VSP_042359;Note=In isoform 4. SL->SSPSLFCGFSFVTPPDYSFVPPSSTPFWSV;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000370056 Q9UKW4 - 2 27 139_139 107 848 not_retained Natural variant ID=VAR_061800;Note=D->N;Dbxref=dbSNP:rs34318889 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000370056 Q9UKW4 - 2 27 298_298 107 848 not_retained Natural variant ID=VAR_033522;Note=T->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15489334,ECO:0000269|PubMed:9705494;Dbxref=dbSNP:rs7528153,PMID:15489334,PMID:9705494 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000370056 Q9UKW4 - 2 27 616_616 107 848 not_retained Natural variant ID=VAR_051998;Note=P->S;Dbxref=dbSNP:rs12410676 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000370056 Q9UKW4 - 2 27 618_618 107 848 not_retained Natural variant ID=VAR_033523;Note=Q->H;Dbxref=dbSNP:rs12403266 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000370056 Q9UKW4 - 2 27 107_107 107 848 retained Sequence conflict Note=K->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000370056 Q9UKW4 - 2 27 217_217 107 848 not_retained Sequence conflict Note=Y->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000370056 Q9UKW4 - 2 27 429_429 107 848 not_retained Sequence conflict Note=V->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000370056 Q9UKW4 - 2 27 3_13 107 848 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2D86 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000370056 Q9UKW4 - 2 27 30_38 107 848 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2D86 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000370056 Q9UKW4 - 2 27 41_50 107 848 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2D86 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000370056 Q9UKW4 - 2 27 57_59 107 848 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2D86 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000370056 Q9UKW4 - 2 27 68_84 107 848 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2D86 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000370056 Q9UKW4 - 2 27 90_92 107 848 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2D86 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000370056 Q9UKW4 - 2 27 96_100 107 848 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2D86 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000370056 Q9UKW4 - 2 27 106_115 107 848 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2D86 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000370056 Q9UKW4 - 2 27 121_124 107 848 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2D86 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000527011 Q9UKW4 - 2 28 1_847 107 876 not_retained Chain ID=PRO_0000080986;Note=Guanine nucleotide exchange factor VAV3 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000527011 Q9UKW4 - 2 28 1_119 107 876 not_retained Domain Note=Calponin-homology (CH);Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00044 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000527011 Q9UKW4 - 2 28 192_371 107 876 not_retained Domain Note=DH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00062 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000527011 Q9UKW4 - 2 28 400_502 107 876 not_retained Domain Note=PH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00145 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000527011 Q9UKW4 - 2 28 592_660 107 876 not_retained Domain Note=SH3 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00192 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000527011 Q9UKW4 - 2 28 672_766 107 876 not_retained Domain Note=SH2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00191 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000527011 Q9UKW4 - 2 28 788_847 107 876 not_retained Domain Note=SH3 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00192 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000527011 Q9UKW4 - 2 28 513_562 107 876 not_retained Zinc finger Note=Phorbol-ester/DAG-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00226 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000527011 Q9UKW4 - 2 28 560_847 107 876 not_retained Region Note=Sufficient for interaction with ROS1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11094073;Dbxref=PMID:11094073 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000527011 Q9UKW4 - 2 28 141_141 107 876 not_retained Modified residue Note=Phosphotyrosine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19690332;Dbxref=PMID:19690332 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000527011 Q9UKW4 - 2 28 1_560 107 876 not_retained Alternative sequence ID=VSP_041360;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:9705494;Dbxref=PMID:14702039,PMID:9705494 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000527011 Q9UKW4 - 2 28 1_107 107 876 retained Alternative sequence ID=VSP_001820;Note=In isoform 2. MEPWKQCAQWLIHCKVLPTNHRVTWDSAQVFDLAQTLRDGVLLCQLLNNLRAHSINLKEINLRPQMSQFLCLKNIRTFLTACCETFGMRKSELFEAFDLFDVRDFGK->MQLPDCPCRAHLP;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10523675;Dbxref=PMID:10523675 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000527011 Q9UKW4 - 2 28 561_568 107 876 not_retained Alternative sequence ID=VSP_041361;Note=In isoform 3. NCGRVNSG->MPIFTFLS;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:9705494;Dbxref=PMID:14702039,PMID:9705494 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000527011 Q9UKW4 - 2 28 783_784 107 876 not_retained Alternative sequence ID=VSP_042359;Note=In isoform 4. SL->SSPSLFCGFSFVTPPDYSFVPPSSTPFWSV;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000527011 Q9UKW4 - 2 28 139_139 107 876 not_retained Natural variant ID=VAR_061800;Note=D->N;Dbxref=dbSNP:rs34318889 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000527011 Q9UKW4 - 2 28 298_298 107 876 not_retained Natural variant ID=VAR_033522;Note=T->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15489334,ECO:0000269|PubMed:9705494;Dbxref=dbSNP:rs7528153,PMID:15489334,PMID:9705494 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000527011 Q9UKW4 - 2 28 616_616 107 876 not_retained Natural variant ID=VAR_051998;Note=P->S;Dbxref=dbSNP:rs12410676 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000527011 Q9UKW4 - 2 28 618_618 107 876 not_retained Natural variant ID=VAR_033523;Note=Q->H;Dbxref=dbSNP:rs12403266 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000527011 Q9UKW4 - 2 28 107_107 107 876 retained Sequence conflict Note=K->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000527011 Q9UKW4 - 2 28 217_217 107 876 not_retained Sequence conflict Note=Y->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000527011 Q9UKW4 - 2 28 429_429 107 876 not_retained Sequence conflict Note=V->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000527011 Q9UKW4 - 2 28 3_13 107 876 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2D86 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000527011 Q9UKW4 - 2 28 30_38 107 876 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2D86 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000527011 Q9UKW4 - 2 28 41_50 107 876 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2D86 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000527011 Q9UKW4 - 2 28 57_59 107 876 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2D86 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000527011 Q9UKW4 - 2 28 68_84 107 876 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2D86 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000527011 Q9UKW4 - 2 28 90_92 107 876 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2D86 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000527011 Q9UKW4 - 2 28 96_100 107 876 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2D86 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000527011 Q9UKW4 - 2 28 106_115 107 876 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2D86 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000527011 Q9UKW4 - 2 28 121_124 107 876 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2D86 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000415432 Q9UKW4 - 1 10 1_847 -25 288 not_retained Chain ID=PRO_0000080986;Note=Guanine nucleotide exchange factor VAV3 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000415432 Q9UKW4 - 1 10 1_119 -25 288 not_retained Domain Note=Calponin-homology (CH);Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00044 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000415432 Q9UKW4 - 1 10 192_371 -25 288 not_retained Domain Note=DH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00062 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000415432 Q9UKW4 - 1 10 400_502 -25 288 not_retained Domain Note=PH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00145 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000415432 Q9UKW4 - 1 10 592_660 -25 288 not_retained Domain Note=SH3 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00192 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000415432 Q9UKW4 - 1 10 672_766 -25 288 not_retained Domain Note=SH2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00191 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000415432 Q9UKW4 - 1 10 788_847 -25 288 not_retained Domain Note=SH3 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00192 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000415432 Q9UKW4 - 1 10 513_562 -25 288 not_retained Zinc finger Note=Phorbol-ester/DAG-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00226 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000415432 Q9UKW4 - 1 10 560_847 -25 288 not_retained Region Note=Sufficient for interaction with ROS1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11094073;Dbxref=PMID:11094073 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000415432 Q9UKW4 - 1 10 141_141 -25 288 not_retained Modified residue Note=Phosphotyrosine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19690332;Dbxref=PMID:19690332 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000415432 Q9UKW4 - 1 10 1_560 -25 288 not_retained Alternative sequence ID=VSP_041360;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:9705494;Dbxref=PMID:14702039,PMID:9705494 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000415432 Q9UKW4 - 1 10 1_107 -25 288 not_retained Alternative sequence ID=VSP_001820;Note=In isoform 2. MEPWKQCAQWLIHCKVLPTNHRVTWDSAQVFDLAQTLRDGVLLCQLLNNLRAHSINLKEINLRPQMSQFLCLKNIRTFLTACCETFGMRKSELFEAFDLFDVRDFGK->MQLPDCPCRAHLP;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10523675;Dbxref=PMID:10523675 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000415432 Q9UKW4 - 1 10 561_568 -25 288 not_retained Alternative sequence ID=VSP_041361;Note=In isoform 3. NCGRVNSG->MPIFTFLS;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:9705494;Dbxref=PMID:14702039,PMID:9705494 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000415432 Q9UKW4 - 1 10 783_784 -25 288 not_retained Alternative sequence ID=VSP_042359;Note=In isoform 4. SL->SSPSLFCGFSFVTPPDYSFVPPSSTPFWSV;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000415432 Q9UKW4 - 1 10 139_139 -25 288 not_retained Natural variant ID=VAR_061800;Note=D->N;Dbxref=dbSNP:rs34318889 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000415432 Q9UKW4 - 1 10 298_298 -25 288 not_retained Natural variant ID=VAR_033522;Note=T->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15489334,ECO:0000269|PubMed:9705494;Dbxref=dbSNP:rs7528153,PMID:15489334,PMID:9705494 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000415432 Q9UKW4 - 1 10 616_616 -25 288 not_retained Natural variant ID=VAR_051998;Note=P->S;Dbxref=dbSNP:rs12410676 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000415432 Q9UKW4 - 1 10 618_618 -25 288 not_retained Natural variant ID=VAR_033523;Note=Q->H;Dbxref=dbSNP:rs12403266 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000415432 Q9UKW4 - 1 10 107_107 -25 288 not_retained Sequence conflict Note=K->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000415432 Q9UKW4 - 1 10 217_217 -25 288 not_retained Sequence conflict Note=Y->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000415432 Q9UKW4 - 1 10 429_429 -25 288 not_retained Sequence conflict Note=V->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000415432 Q9UKW4 - 1 10 3_13 -25 288 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2D86 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000415432 Q9UKW4 - 1 10 30_38 -25 288 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2D86 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000415432 Q9UKW4 - 1 10 41_50 -25 288 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2D86 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000415432 Q9UKW4 - 1 10 57_59 -25 288 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2D86 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000415432 Q9UKW4 - 1 10 68_84 -25 288 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2D86 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000415432 Q9UKW4 - 1 10 90_92 -25 288 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2D86 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000415432 Q9UKW4 - 1 10 96_100 -25 288 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2D86 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000415432 Q9UKW4 - 1 10 106_115 -25 288 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2D86 Hgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000415432 Q9UKW4 - 1 10 121_124 -25 288 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2D86 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 1_1 -45 956 not_retained Initiator methionine Note=Removed;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:22814378;Dbxref=PMID:22814378 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 2_955 -45 956 not_retained Chain ID=PRO_0000065583;Note=Thyroid hormone receptor-associated protein 3 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 552_559 -45 956 not_retained Nucleotide binding Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 2_190 -45 956 not_retained Region Note=Required for mRNA splicing activation Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 359_955 -45 956 not_retained Region Note=Required for mRNA decay activity Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 7_339 -45 956 not_retained Compositional bias Note=Ser-rich Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 12_161 -45 956 not_retained Compositional bias Note=Arg-rich Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 2_2 -45 956 not_retained Modified residue Note=N-acetylserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:22814378;Dbxref=PMID:22814378 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 17_17 -45 956 not_retained Modified residue Note=Dimethylated arginine;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.5 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 66_66 -45 956 not_retained Modified residue Note=Asymmetric dimethylarginine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24129315;Dbxref=PMID:24129315 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 101_101 -45 956 not_retained Modified residue Note=Asymmetric dimethylarginine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24129315;Dbxref=PMID:24129315 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 108_108 -45 956 not_retained Modified residue Note=Asymmetric dimethylarginine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24129315;Dbxref=PMID:24129315 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 220_220 -45 956 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 221_221 -45 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 232_232 -45 956 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:20068231,PMID:23186163 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 237_237 -45 956 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 240_240 -45 956 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:23186163;Dbxref=PMID:17081983,PMID:18669648,PMID:23186163 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 243_243 -45 956 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:16964243,ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:18220336,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:19367720,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163,ECO:0000269|Ref.5;Dbxref=PMID:16964243,PMID:17081983,PMID:18220336,PMID:18669648,PMID:18691976,PMID:19367720,PMID:20068231,PMID:21406692,PMID:23186163 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 248_248 -45 956 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:18220336,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:17081983,PMID:18220336,PMID:18669648,PMID:20068231,PMID:23186163,PMID:24275569 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 252_252 -45 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 253_253 -45 956 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:18220336,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:17081983,PMID:18220336,PMID:18669648,PMID:20068231,PMID:21406692,PMID:23186163,PMID:24275569 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 257_257 -45 956 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:20068231,PMID:23186163,PMID:24275569 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 315_315 -45 956 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163;Dbxref=PMID:17081983,PMID:20068231,PMID:21406692,PMID:23186163 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 320_320 -45 956 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569,ECO:0000269|Ref.5;Dbxref=PMID:17081983,PMID:20068231,PMID:21406692,PMID:23186163,PMID:24275569 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 323_323 -45 956 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 324_324 -45 956 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q569Z6 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 326_326 -45 956 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 328_328 -45 956 not_retained Modified residue Note=Phosphotyrosine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q569Z6 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 339_339 -45 956 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:21406692;Dbxref=PMID:21406692 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 346_346 -45 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 377_377 -45 956 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:23186163,PMID:24275569 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 379_379 -45 956 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:20068231,PMID:21406692,PMID:23186163 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 397_397 -45 956 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 406_406 -45 956 not_retained Mutagenesis Note=Reduces phosphorylation upon DNA damage%3B when associated with A-408. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22424773;Dbxref=PMID:22424773 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 408_408 -45 956 not_retained Mutagenesis Note=Reduces phosphorylation upon DNA damage%3B when associated with A-406. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22424773;Dbxref=PMID:22424773 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 444_444 -45 956 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 455_455 -45 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 468_468 -45 956 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 470_470 -45 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:25218447,ECO:0000244|PubMed:25755297,ECO:0000244|PubMed:28112733;Dbxref=PMID:25218447,PMID:25755297,PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 481_481 -45 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 519_519 -45 956 not_retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 527_527 -45 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:25755297,ECO:0000244|PubMed:28112733;Dbxref=PMID:25755297,PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 535_535 -45 956 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:21406692;Dbxref=PMID:21406692 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 558_558 -45 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 560_560 -45 956 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:23186163,PMID:24275569 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 562_562 -45 956 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 575_575 -45 956 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:17081983,PMID:18669648,PMID:20068231,PMID:21406692,PMID:23186163,PMID:24275569 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 619_619 -45 956 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 622_622 -45 956 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692;Dbxref=PMID:20068231,PMID:21406692 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 672_672 -45 956 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:17081983;Dbxref=PMID:17081983 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 682_682 -45 956 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569,ECO:0000269|Ref.5;Dbxref=PMID:18669648,PMID:20068231,PMID:21406692,PMID:23186163,PMID:24275569 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 684_684 -45 956 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 698_698 -45 956 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163;Dbxref=PMID:20068231,PMID:21406692,PMID:23186163 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 811_811 -45 956 not_retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 845_845 -45 956 not_retained Modified residue Note=Asymmetric dimethylarginine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q569Z6 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 874_874 -45 956 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:19690332,PMID:23186163 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 928_928 -45 956 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:18318008,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163;Dbxref=PMID:17081983,PMID:18318008,PMID:18669648,PMID:19690332,PMID:20068231,PMID:21406692,PMID:23186163 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 939_939 -45 956 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:19690332,PMID:20068231,PMID:21406692,PMID:23186163 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 202_202 -45 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 202_202 -45 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 215_215 -45 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 221_221 -45 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 252_252 -45 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 333_333 -45 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 346_346 -45 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 353_353 -45 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 375_375 -45 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 387_387 -45 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 387_387 -45 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 389_389 -45 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 396_396 -45 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:25755297,ECO:0000244|PubMed:28112733;Dbxref=PMID:25755297,PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 401_401 -45 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 421_421 -45 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 427_427 -45 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:25755297,ECO:0000244|PubMed:28112733;Dbxref=PMID:25755297,PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 451_451 -45 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:25114211,ECO:0000244|PubMed:25218447,ECO:0000244|PubMed:25755297,ECO:0000244|PubMed:28112733;Dbxref=PMID:25114211,PMID:25218447,PMID:25755297,PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 451_451 -45 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:25114211,ECO:0000244|PubMed:25218447,ECO:0000244|PubMed:25755297,ECO:0000244|PubMed:28112733;Dbxref=PMID:25114211,PMID:25218447,PMID:25755297,PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 455_455 -45 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 461_461 -45 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 467_467 -45 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:25218447,ECO:0000244|PubMed:28112733;Dbxref=PMID:25218447,PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 470_470 -45 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:25218447,ECO:0000244|PubMed:25755297,ECO:0000244|PubMed:28112733;Dbxref=PMID:25218447,PMID:25755297,PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 481_481 -45 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 486_486 -45 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:25218447,ECO:0000244|PubMed:25755297,ECO:0000244|PubMed:25772364,ECO:0000244|PubMed:28112733;Dbxref=PMID:25218447,PMID:25755297,PMID:25772364,PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 527_527 -45 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:25755297,ECO:0000244|PubMed:28112733;Dbxref=PMID:25755297,PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 551_551 -45 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 558_558 -45 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 602_602 -45 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 697_697 -45 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:25755297,ECO:0000244|PubMed:28112733;Dbxref=PMID:25755297,PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 705_705 -45 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:25218447,ECO:0000244|PubMed:25755297,ECO:0000244|PubMed:28112733;Dbxref=PMID:25218447,PMID:25755297,PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 709_709 -45 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 711_711 -45 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:25218447,ECO:0000244|PubMed:25755297,ECO:0000244|PubMed:28112733;Dbxref=PMID:25218447,PMID:25755297,PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 756_756 -45 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:25218447;Dbxref=PMID:25218447 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 759_759 -45 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:25218447;Dbxref=PMID:25218447 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 876_876 -45 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 879_879 -45 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 201_201 -45 956 not_retained Natural variant ID=VAR_024552;Note=A->V;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10198638,ECO:0000269|PubMed:15489334,ECO:0000269|Ref.3;Dbxref=dbSNP:rs6425977,PMID:10198638,PMID:15489334 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 406_406 -45 956 not_retained Mutagenesis Note=Reduces phosphorylation upon DNA damage%3B when associated with A-408. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22424773;Dbxref=PMID:22424773 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000354618 Q9Y2W1 + 1 12 408_408 -45 956 not_retained Mutagenesis Note=Reduces phosphorylation upon DNA damage%3B when associated with A-406. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22424773;Dbxref=PMID:22424773 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 1_1 -89 956 not_retained Initiator methionine Note=Removed;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:22814378;Dbxref=PMID:22814378 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 2_955 -89 956 not_retained Chain ID=PRO_0000065583;Note=Thyroid hormone receptor-associated protein 3 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 552_559 -89 956 not_retained Nucleotide binding Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 2_190 -89 956 not_retained Region Note=Required for mRNA splicing activation Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 359_955 -89 956 not_retained Region Note=Required for mRNA decay activity Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 7_339 -89 956 not_retained Compositional bias Note=Ser-rich Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 12_161 -89 956 not_retained Compositional bias Note=Arg-rich Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 2_2 -89 956 not_retained Modified residue Note=N-acetylserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:22814378;Dbxref=PMID:22814378 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 17_17 -89 956 not_retained Modified residue Note=Dimethylated arginine;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.5 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 66_66 -89 956 not_retained Modified residue Note=Asymmetric dimethylarginine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24129315;Dbxref=PMID:24129315 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 101_101 -89 956 not_retained Modified residue Note=Asymmetric dimethylarginine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24129315;Dbxref=PMID:24129315 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 108_108 -89 956 not_retained Modified residue Note=Asymmetric dimethylarginine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24129315;Dbxref=PMID:24129315 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 220_220 -89 956 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 221_221 -89 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 232_232 -89 956 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:20068231,PMID:23186163 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 237_237 -89 956 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 240_240 -89 956 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:23186163;Dbxref=PMID:17081983,PMID:18669648,PMID:23186163 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 243_243 -89 956 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:16964243,ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:18220336,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:19367720,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163,ECO:0000269|Ref.5;Dbxref=PMID:16964243,PMID:17081983,PMID:18220336,PMID:18669648,PMID:18691976,PMID:19367720,PMID:20068231,PMID:21406692,PMID:23186163 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 248_248 -89 956 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:18220336,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:17081983,PMID:18220336,PMID:18669648,PMID:20068231,PMID:23186163,PMID:24275569 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 252_252 -89 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 253_253 -89 956 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:18220336,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:17081983,PMID:18220336,PMID:18669648,PMID:20068231,PMID:21406692,PMID:23186163,PMID:24275569 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 257_257 -89 956 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:20068231,PMID:23186163,PMID:24275569 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 315_315 -89 956 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163;Dbxref=PMID:17081983,PMID:20068231,PMID:21406692,PMID:23186163 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 320_320 -89 956 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569,ECO:0000269|Ref.5;Dbxref=PMID:17081983,PMID:20068231,PMID:21406692,PMID:23186163,PMID:24275569 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 323_323 -89 956 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 324_324 -89 956 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q569Z6 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 326_326 -89 956 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 328_328 -89 956 not_retained Modified residue Note=Phosphotyrosine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q569Z6 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 339_339 -89 956 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:21406692;Dbxref=PMID:21406692 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 346_346 -89 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 377_377 -89 956 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:23186163,PMID:24275569 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 379_379 -89 956 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:20068231,PMID:21406692,PMID:23186163 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 397_397 -89 956 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 406_406 -89 956 not_retained Mutagenesis Note=Reduces phosphorylation upon DNA damage%3B when associated with A-408. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22424773;Dbxref=PMID:22424773 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 408_408 -89 956 not_retained Mutagenesis Note=Reduces phosphorylation upon DNA damage%3B when associated with A-406. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22424773;Dbxref=PMID:22424773 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 444_444 -89 956 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 455_455 -89 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 468_468 -89 956 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 470_470 -89 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:25218447,ECO:0000244|PubMed:25755297,ECO:0000244|PubMed:28112733;Dbxref=PMID:25218447,PMID:25755297,PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 481_481 -89 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 519_519 -89 956 not_retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 527_527 -89 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:25755297,ECO:0000244|PubMed:28112733;Dbxref=PMID:25755297,PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 535_535 -89 956 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:21406692;Dbxref=PMID:21406692 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 558_558 -89 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 560_560 -89 956 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:23186163,PMID:24275569 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 562_562 -89 956 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 575_575 -89 956 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:17081983,PMID:18669648,PMID:20068231,PMID:21406692,PMID:23186163,PMID:24275569 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 619_619 -89 956 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 622_622 -89 956 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692;Dbxref=PMID:20068231,PMID:21406692 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 672_672 -89 956 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:17081983;Dbxref=PMID:17081983 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 682_682 -89 956 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569,ECO:0000269|Ref.5;Dbxref=PMID:18669648,PMID:20068231,PMID:21406692,PMID:23186163,PMID:24275569 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 684_684 -89 956 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 698_698 -89 956 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163;Dbxref=PMID:20068231,PMID:21406692,PMID:23186163 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 811_811 -89 956 not_retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 845_845 -89 956 not_retained Modified residue Note=Asymmetric dimethylarginine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q569Z6 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 874_874 -89 956 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:19690332,PMID:23186163 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 928_928 -89 956 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:18318008,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163;Dbxref=PMID:17081983,PMID:18318008,PMID:18669648,PMID:19690332,PMID:20068231,PMID:21406692,PMID:23186163 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 939_939 -89 956 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:19690332,PMID:20068231,PMID:21406692,PMID:23186163 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 202_202 -89 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 202_202 -89 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 215_215 -89 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 221_221 -89 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 252_252 -89 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 333_333 -89 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 346_346 -89 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 353_353 -89 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 375_375 -89 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 387_387 -89 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 387_387 -89 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 389_389 -89 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 396_396 -89 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:25755297,ECO:0000244|PubMed:28112733;Dbxref=PMID:25755297,PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 401_401 -89 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 421_421 -89 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 427_427 -89 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:25755297,ECO:0000244|PubMed:28112733;Dbxref=PMID:25755297,PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 451_451 -89 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:25114211,ECO:0000244|PubMed:25218447,ECO:0000244|PubMed:25755297,ECO:0000244|PubMed:28112733;Dbxref=PMID:25114211,PMID:25218447,PMID:25755297,PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 451_451 -89 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:25114211,ECO:0000244|PubMed:25218447,ECO:0000244|PubMed:25755297,ECO:0000244|PubMed:28112733;Dbxref=PMID:25114211,PMID:25218447,PMID:25755297,PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 455_455 -89 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 461_461 -89 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 467_467 -89 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:25218447,ECO:0000244|PubMed:28112733;Dbxref=PMID:25218447,PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 470_470 -89 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:25218447,ECO:0000244|PubMed:25755297,ECO:0000244|PubMed:28112733;Dbxref=PMID:25218447,PMID:25755297,PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 481_481 -89 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 486_486 -89 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:25218447,ECO:0000244|PubMed:25755297,ECO:0000244|PubMed:25772364,ECO:0000244|PubMed:28112733;Dbxref=PMID:25218447,PMID:25755297,PMID:25772364,PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 527_527 -89 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:25755297,ECO:0000244|PubMed:28112733;Dbxref=PMID:25755297,PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 551_551 -89 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 558_558 -89 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 602_602 -89 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 697_697 -89 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:25755297,ECO:0000244|PubMed:28112733;Dbxref=PMID:25755297,PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 705_705 -89 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:25218447,ECO:0000244|PubMed:25755297,ECO:0000244|PubMed:28112733;Dbxref=PMID:25218447,PMID:25755297,PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 709_709 -89 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 711_711 -89 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:25218447,ECO:0000244|PubMed:25755297,ECO:0000244|PubMed:28112733;Dbxref=PMID:25218447,PMID:25755297,PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 756_756 -89 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:25218447;Dbxref=PMID:25218447 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 759_759 -89 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:25218447;Dbxref=PMID:25218447 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 876_876 -89 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 879_879 -89 956 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 201_201 -89 956 not_retained Natural variant ID=VAR_024552;Note=A->V;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10198638,ECO:0000269|PubMed:15489334,ECO:0000269|Ref.3;Dbxref=dbSNP:rs6425977,PMID:10198638,PMID:15489334 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 406_406 -89 956 not_retained Mutagenesis Note=Reduces phosphorylation upon DNA damage%3B when associated with A-408. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22424773;Dbxref=PMID:22424773 Hgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000469141 Q9Y2W1 + 1 13 408_408 -89 956 not_retained Mutagenesis Note=Reduces phosphorylation upon DNA damage%3B when associated with A-406. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22424773;Dbxref=PMID:22424773 Hgene 5CDS-intron AA255952 ChiTaRS GGA2 chr16:23505624 RPF1 chr1:84956001 ENST00000309859 Q9UJY4 - 3 17 1_613 84 614 not_retained Chain ID=PRO_0000212682;Note=ADP-ribosylation factor-binding protein GGA2 Hgene 5CDS-intron AA255952 ChiTaRS GGA2 chr16:23505624 RPF1 chr1:84956001 ENST00000309859 Q9UJY4 - 3 17 33_163 84 614 not_retained Domain Note=VHS;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00218 Hgene 5CDS-intron AA255952 ChiTaRS GGA2 chr16:23505624 RPF1 chr1:84956001 ENST00000309859 Q9UJY4 - 3 17 188_315 84 614 not_retained Domain Note=GAT;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00373 Hgene 5CDS-intron AA255952 ChiTaRS GGA2 chr16:23505624 RPF1 chr1:84956001 ENST00000309859 Q9UJY4 - 3 17 484_605 84 614 not_retained Domain Note=GAE;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00093 Hgene 5CDS-intron AA255952 ChiTaRS GGA2 chr16:23505624 RPF1 chr1:84956001 ENST00000309859 Q9UJY4 - 3 17 316_483 84 614 not_retained Region Note=Unstructured hinge Hgene 5CDS-intron AA255952 ChiTaRS GGA2 chr16:23505624 RPF1 chr1:84956001 ENST00000309859 Q9UJY4 - 3 17 400_400 84 614 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene 5CDS-intron AA255952 ChiTaRS GGA2 chr16:23505624 RPF1 chr1:84956001 ENST00000309859 Q9UJY4 - 3 17 424_424 84 614 not_retained Natural variant ID=VAR_028275;Note=A->P;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10747088,ECO:0000269|PubMed:10749927,ECO:0000269|PubMed:11331584,ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs1135045,PMID:10747088,PMID:10749927,PMID:11331584,PMID:15489334 Hgene 5CDS-intron AA255952 ChiTaRS GGA2 chr16:23505624 RPF1 chr1:84956001 ENST00000309859 Q9UJY4 - 3 17 349_353 84 614 not_retained Mutagenesis Note=Partial loss of clathrin-binding. LIDLE->AADAA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11301005;Dbxref=PMID:11301005 Hgene 5CDS-intron AA255952 ChiTaRS GGA2 chr16:23505624 RPF1 chr1:84956001 ENST00000309859 Q9UJY4 - 3 17 281_281 84 614 not_retained Sequence conflict Note=R->W;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene 5CDS-intron AA255952 ChiTaRS GGA2 chr16:23505624 RPF1 chr1:84956001 ENST00000309859 Q9UJY4 - 3 17 26_34 84 614 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1MHQ Hgene 5CDS-intron AA255952 ChiTaRS GGA2 chr16:23505624 RPF1 chr1:84956001 ENST00000309859 Q9UJY4 - 3 17 43_55 84 614 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1MHQ Hgene 5CDS-intron AA255952 ChiTaRS GGA2 chr16:23505624 RPF1 chr1:84956001 ENST00000309859 Q9UJY4 - 3 17 58_71 84 614 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1MHQ Hgene 5CDS-intron AA255952 ChiTaRS GGA2 chr16:23505624 RPF1 chr1:84956001 ENST00000309859 Q9UJY4 - 3 17 76_92 84 614 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1MHQ Hgene 5CDS-intron AA255952 ChiTaRS GGA2 chr16:23505624 RPF1 chr1:84956001 ENST00000309859 Q9UJY4 - 3 17 95_101 84 614 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1MHQ Hgene 5CDS-intron AA255952 ChiTaRS GGA2 chr16:23505624 RPF1 chr1:84956001 ENST00000309859 Q9UJY4 - 3 17 104_112 84 614 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1MHQ Hgene 5CDS-intron AA255952 ChiTaRS GGA2 chr16:23505624 RPF1 chr1:84956001 ENST00000309859 Q9UJY4 - 3 17 125_141 84 614 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1MHQ Hgene 5CDS-intron AA255952 ChiTaRS GGA2 chr16:23505624 RPF1 chr1:84956001 ENST00000309859 Q9UJY4 - 3 17 146_157 84 614 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1MHQ Hgene intron-3CDS AW803220 ChiTaRS CRTC1 chr19:18880481 EWSR1 chr22:29695762 ENST00000321949 Q6UUV9 + 1 14 1_634 -9 635 not_retained Chain ID=PRO_0000096354;Note=CREB-regulated transcription coactivator 1 Hgene intron-3CDS AW803220 ChiTaRS CRTC1 chr19:18880481 EWSR1 chr22:29695762 ENST00000321949 Q6UUV9 + 1 14 242_258 -9 635 not_retained Motif Note=Nuclear export signal;Ontology_term=ECO:0000250;evidence=ECO:0000250 Hgene intron-3CDS AW803220 ChiTaRS CRTC1 chr19:18880481 EWSR1 chr22:29695762 ENST00000321949 Q6UUV9 + 1 14 299_366 -9 635 not_retained Compositional bias Note=Ser-rich Hgene intron-3CDS AW803220 ChiTaRS CRTC1 chr19:18880481 EWSR1 chr22:29695762 ENST00000321949 Q6UUV9 + 1 14 42_43 -9 635 not_retained Site Note=Breakpoint for translocation to form the MECT1-MAML2 and MAML2-MECT1 fusion proteins;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12539049,ECO:0000269|PubMed:14720503;Dbxref=PMID:12539049,PMID:14720503 Hgene intron-3CDS AW803220 ChiTaRS CRTC1 chr19:18880481 EWSR1 chr22:29695762 ENST00000321949 Q6UUV9 + 1 14 575_575 -9 635 not_retained Site Note=Required for ubiquitination and degradation;Ontology_term=ECO:0000250;evidence=ECO:0000250 Hgene intron-3CDS AW803220 ChiTaRS CRTC1 chr19:18880481 EWSR1 chr22:29695762 ENST00000321949 Q6UUV9 + 1 14 64_64 -9 635 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q68ED7 Hgene intron-3CDS AW803220 ChiTaRS CRTC1 chr19:18880481 EWSR1 chr22:29695762 ENST00000321949 Q6UUV9 + 1 14 113_113 -9 635 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene intron-3CDS AW803220 ChiTaRS CRTC1 chr19:18880481 EWSR1 chr22:29695762 ENST00000321949 Q6UUV9 + 1 14 149_149 -9 635 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q68ED7 Hgene intron-3CDS AW803220 ChiTaRS CRTC1 chr19:18880481 EWSR1 chr22:29695762 ENST00000321949 Q6UUV9 + 1 14 151_151 -9 635 not_retained Modified residue Note=Phosphoserine%3B by SIK1 and SIK2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16817901;Dbxref=PMID:16817901 Hgene intron-3CDS AW803220 ChiTaRS CRTC1 chr19:18880481 EWSR1 chr22:29695762 ENST00000321949 Q6UUV9 + 1 14 161_161 -9 635 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Hgene intron-3CDS AW803220 ChiTaRS CRTC1 chr19:18880481 EWSR1 chr22:29695762 ENST00000321949 Q6UUV9 + 1 14 81_81 -9 635 not_retained Alternative sequence ID=VSP_051749;Note=In isoform 2. Q->QPSGFLGEALAAAPVSL;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14506290,ECO:0000303|PubMed:9734811;Dbxref=PMID:14506290,PMID:9734811 Hgene intron-3CDS AW803220 ChiTaRS CRTC1 chr19:18880481 EWSR1 chr22:29695762 ENST00000321949 Q6UUV9 + 1 14 475_503 -9 635 not_retained Alternative sequence ID=VSP_051750;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:12539049,ECO:0000303|PubMed:14506290,ECO:0000303|PubMed:14702039;Dbxref=PMID:12539049,PMID:14506290,PMID:14702039 Hgene intron-3CDS AW803220 ChiTaRS CRTC1 chr19:18880481 EWSR1 chr22:29695762 ENST00000321949 Q6UUV9 + 1 14 580_634 -9 635 not_retained Alternative sequence ID=VSP_051751;Note=In isoform 3. SLAGVGDVSFDSDSQFPLDELKIDPLTLDGLHMLNDPDMVLADPATEDTFRMDRL->HRGHLPDGPPVSGHAGTLPLSRPDGASPARGRPCSVPRQRPSL;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:12539049,ECO:0000303|PubMed:14506290,ECO:0000303|PubMed:14702039;Dbxref=PMID:12539049,PMID:14506290,PMID:14702039 Hgene intron-3CDS AW803220 ChiTaRS CRTC1 chr19:18880481 EWSR1 chr22:29695762 ENST00000321949 Q6UUV9 + 1 14 286_286 -9 635 not_retained Natural variant ID=VAR_053934;Note=T->A;Dbxref=dbSNP:rs3746266 Hgene intron-3CDS AW803220 ChiTaRS CRTC1 chr19:18880481 EWSR1 chr22:29695762 ENST00000321949 Q6UUV9 + 1 14 311_311 -9 635 not_retained Natural variant ID=VAR_053935;Note=V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs36070283,PMID:15489334 Hgene intron-3CDS AW803220 ChiTaRS CRTC1 chr19:18880481 EWSR1 chr22:29695762 ENST00000321949 Q6UUV9 + 1 14 328_328 -9 635 not_retained Natural variant ID=VAR_053936;Note=T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs3746266,PMID:15489334 Hgene intron-3CDS AW803220 ChiTaRS CRTC1 chr19:18880481 EWSR1 chr22:29695762 ENST00000321949 Q6UUV9 + 1 14 84_84 -9 635 not_retained Sequence conflict Note=F->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-3CDS AW803220 ChiTaRS CRTC1 chr19:18880481 EWSR1 chr22:29695762 ENST00000321949 Q6UUV9 + 1 14 384_384 -9 635 not_retained Sequence conflict Note=P->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-3CDS AW803220 ChiTaRS CRTC1 chr19:18880481 EWSR1 chr22:29695762 ENST00000321949 Q6UUV9 + 1 14 556_556 -9 635 not_retained Sequence conflict Note=S->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-3CDS AW803220 ChiTaRS CRTC1 chr19:18880481 EWSR1 chr22:29695762 ENST00000338797 Q6UUV9 + 1 15 1_634 -9 651 not_retained Chain ID=PRO_0000096354;Note=CREB-regulated transcription coactivator 1 Hgene intron-3CDS AW803220 ChiTaRS CRTC1 chr19:18880481 EWSR1 chr22:29695762 ENST00000338797 Q6UUV9 + 1 15 242_258 -9 651 not_retained Motif Note=Nuclear export signal;Ontology_term=ECO:0000250;evidence=ECO:0000250 Hgene intron-3CDS AW803220 ChiTaRS CRTC1 chr19:18880481 EWSR1 chr22:29695762 ENST00000338797 Q6UUV9 + 1 15 299_366 -9 651 not_retained Compositional bias Note=Ser-rich Hgene intron-3CDS AW803220 ChiTaRS CRTC1 chr19:18880481 EWSR1 chr22:29695762 ENST00000338797 Q6UUV9 + 1 15 42_43 -9 651 not_retained Site Note=Breakpoint for translocation to form the MECT1-MAML2 and MAML2-MECT1 fusion proteins;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12539049,ECO:0000269|PubMed:14720503;Dbxref=PMID:12539049,PMID:14720503 Hgene intron-3CDS AW803220 ChiTaRS CRTC1 chr19:18880481 EWSR1 chr22:29695762 ENST00000338797 Q6UUV9 + 1 15 575_575 -9 651 not_retained Site Note=Required for ubiquitination and degradation;Ontology_term=ECO:0000250;evidence=ECO:0000250 Hgene intron-3CDS AW803220 ChiTaRS CRTC1 chr19:18880481 EWSR1 chr22:29695762 ENST00000338797 Q6UUV9 + 1 15 64_64 -9 651 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q68ED7 Hgene intron-3CDS AW803220 ChiTaRS CRTC1 chr19:18880481 EWSR1 chr22:29695762 ENST00000338797 Q6UUV9 + 1 15 113_113 -9 651 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene intron-3CDS AW803220 ChiTaRS CRTC1 chr19:18880481 EWSR1 chr22:29695762 ENST00000338797 Q6UUV9 + 1 15 149_149 -9 651 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q68ED7 Hgene intron-3CDS AW803220 ChiTaRS CRTC1 chr19:18880481 EWSR1 chr22:29695762 ENST00000338797 Q6UUV9 + 1 15 151_151 -9 651 not_retained Modified residue Note=Phosphoserine%3B by SIK1 and SIK2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16817901;Dbxref=PMID:16817901 Hgene intron-3CDS AW803220 ChiTaRS CRTC1 chr19:18880481 EWSR1 chr22:29695762 ENST00000338797 Q6UUV9 + 1 15 161_161 -9 651 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Hgene intron-3CDS AW803220 ChiTaRS CRTC1 chr19:18880481 EWSR1 chr22:29695762 ENST00000338797 Q6UUV9 + 1 15 81_81 -9 651 not_retained Alternative sequence ID=VSP_051749;Note=In isoform 2. Q->QPSGFLGEALAAAPVSL;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14506290,ECO:0000303|PubMed:9734811;Dbxref=PMID:14506290,PMID:9734811 Hgene intron-3CDS AW803220 ChiTaRS CRTC1 chr19:18880481 EWSR1 chr22:29695762 ENST00000338797 Q6UUV9 + 1 15 475_503 -9 651 not_retained Alternative sequence ID=VSP_051750;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:12539049,ECO:0000303|PubMed:14506290,ECO:0000303|PubMed:14702039;Dbxref=PMID:12539049,PMID:14506290,PMID:14702039 Hgene intron-3CDS AW803220 ChiTaRS CRTC1 chr19:18880481 EWSR1 chr22:29695762 ENST00000338797 Q6UUV9 + 1 15 580_634 -9 651 not_retained Alternative sequence ID=VSP_051751;Note=In isoform 3. SLAGVGDVSFDSDSQFPLDELKIDPLTLDGLHMLNDPDMVLADPATEDTFRMDRL->HRGHLPDGPPVSGHAGTLPLSRPDGASPARGRPCSVPRQRPSL;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:12539049,ECO:0000303|PubMed:14506290,ECO:0000303|PubMed:14702039;Dbxref=PMID:12539049,PMID:14506290,PMID:14702039 Hgene intron-3CDS AW803220 ChiTaRS CRTC1 chr19:18880481 EWSR1 chr22:29695762 ENST00000338797 Q6UUV9 + 1 15 286_286 -9 651 not_retained Natural variant ID=VAR_053934;Note=T->A;Dbxref=dbSNP:rs3746266 Hgene intron-3CDS AW803220 ChiTaRS CRTC1 chr19:18880481 EWSR1 chr22:29695762 ENST00000338797 Q6UUV9 + 1 15 311_311 -9 651 not_retained Natural variant ID=VAR_053935;Note=V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs36070283,PMID:15489334 Hgene intron-3CDS AW803220 ChiTaRS CRTC1 chr19:18880481 EWSR1 chr22:29695762 ENST00000338797 Q6UUV9 + 1 15 328_328 -9 651 not_retained Natural variant ID=VAR_053936;Note=T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs3746266,PMID:15489334 Hgene intron-3CDS AW803220 ChiTaRS CRTC1 chr19:18880481 EWSR1 chr22:29695762 ENST00000338797 Q6UUV9 + 1 15 84_84 -9 651 not_retained Sequence conflict Note=F->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-3CDS AW803220 ChiTaRS CRTC1 chr19:18880481 EWSR1 chr22:29695762 ENST00000338797 Q6UUV9 + 1 15 384_384 -9 651 not_retained Sequence conflict Note=P->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-3CDS AW803220 ChiTaRS CRTC1 chr19:18880481 EWSR1 chr22:29695762 ENST00000338797 Q6UUV9 + 1 15 556_556 -9 651 not_retained Sequence conflict Note=S->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame DA020849 ChiTaRS LMCD1 chr3:8543667 PBX3 chr9:128691932 ENST00000157600 Q9NZU5 + 1 6 1_365 14 366 not_retained Chain ID=PRO_0000075815;Note=LIM and cysteine-rich domains protein 1 Hgene In-frame DA020849 ChiTaRS LMCD1 chr3:8543667 PBX3 chr9:128691932 ENST00000157600 Q9NZU5 + 1 6 99_206 14 366 not_retained Domain Note=PET;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00636 Hgene In-frame DA020849 ChiTaRS LMCD1 chr3:8543667 PBX3 chr9:128691932 ENST00000157600 Q9NZU5 + 1 6 241_306 14 366 not_retained Domain Note=LIM zinc-binding 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00125 Hgene In-frame DA020849 ChiTaRS LMCD1 chr3:8543667 PBX3 chr9:128691932 ENST00000157600 Q9NZU5 + 1 6 307_365 14 366 not_retained Domain Note=LIM zinc-binding 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00125 Hgene In-frame DA020849 ChiTaRS LMCD1 chr3:8543667 PBX3 chr9:128691932 ENST00000157600 Q9NZU5 + 1 6 28_58 14 366 not_retained Compositional bias Note=Cys-rich Hgene In-frame DA020849 ChiTaRS LMCD1 chr3:8543667 PBX3 chr9:128691932 ENST00000157600 Q9NZU5 + 1 6 16_16 14 366 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 Hgene In-frame DA020849 ChiTaRS LMCD1 chr3:8543667 PBX3 chr9:128691932 ENST00000157600 Q9NZU5 + 1 6 1_73 14 366 not_retained Alternative sequence ID=VSP_053895;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000393800 Q5H9R7 + 1 24 1_873 -53 874 not_retained Chain ID=PRO_0000046100;Note=Serine/threonine-protein phosphatase 6 regulatory subunit 3 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000393800 Q5H9R7 + 1 24 315_315 -53 874 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q922D4 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000393800 Q5H9R7 + 1 24 579_579 -53 874 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:16964243,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163;Dbxref=PMID:16964243,PMID:19690332,PMID:20068231,PMID:21406692,PMID:23186163 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000393800 Q5H9R7 + 1 24 617_617 -53 874 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:19369195,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:17081983,PMID:18691976,PMID:19369195,PMID:19690332,PMID:20068231,PMID:21406692,PMID:23186163,PMID:24275569 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000393800 Q5H9R7 + 1 24 631_631 -53 874 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000393800 Q5H9R7 + 1 24 634_634 -53 874 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000393800 Q5H9R7 + 1 24 722_722 -53 874 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000393800 Q5H9R7 + 1 24 853_853 -53 874 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000393800 Q5H9R7 + 1 24 326_376 -53 874 not_retained Alternative sequence ID=VSP_017140;Note=In isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11401438;Dbxref=PMID:11401438 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000393800 Q5H9R7 + 1 24 516_544 -53 874 not_retained Alternative sequence ID=VSP_017141;Note=In isoform 3%2C isoform 4 and isoform 6. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11401438,ECO:0000303|PubMed:15489334;Dbxref=PMID:11401438,PMID:15489334 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000393800 Q5H9R7 + 1 24 544_549 -53 874 not_retained Alternative sequence ID=VSP_017142;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000393800 Q5H9R7 + 1 24 817_817 -53 874 not_retained Alternative sequence ID=VSP_017143;Note=In isoform 5. S->RVLKSYR;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10997877;Dbxref=PMID:10997877 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000393800 Q5H9R7 + 1 24 857_873 -53 874 not_retained Alternative sequence ID=VSP_017144;Note=In isoform 3. RTGQPSAPGDTSVNGPV->SGVEIPALPGQWSQQ;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11401438;Dbxref=PMID:11401438 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000393800 Q5H9R7 + 1 24 842_842 -53 874 not_retained Natural variant ID=VAR_057720;Note=A->V;Dbxref=dbSNP:rs34009811 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000393800 Q5H9R7 + 1 24 292_292 -53 874 not_retained Sequence conflict Note=P->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000393800 Q5H9R7 + 1 24 443_443 -53 874 not_retained Sequence conflict Note=M->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000393800 Q5H9R7 + 1 24 477_477 -53 874 not_retained Sequence conflict Note=N->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000393800 Q5H9R7 + 1 24 677_677 -53 874 not_retained Sequence conflict Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000524845 Q5H9R7 + 1 23 1_873 -53 845 not_retained Chain ID=PRO_0000046100;Note=Serine/threonine-protein phosphatase 6 regulatory subunit 3 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000524845 Q5H9R7 + 1 23 315_315 -53 845 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q922D4 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000524845 Q5H9R7 + 1 23 579_579 -53 845 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:16964243,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163;Dbxref=PMID:16964243,PMID:19690332,PMID:20068231,PMID:21406692,PMID:23186163 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000524845 Q5H9R7 + 1 23 617_617 -53 845 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:19369195,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:17081983,PMID:18691976,PMID:19369195,PMID:19690332,PMID:20068231,PMID:21406692,PMID:23186163,PMID:24275569 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000524845 Q5H9R7 + 1 23 631_631 -53 845 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000524845 Q5H9R7 + 1 23 634_634 -53 845 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000524845 Q5H9R7 + 1 23 722_722 -53 845 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000524845 Q5H9R7 + 1 23 853_853 -53 845 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000524845 Q5H9R7 + 1 23 326_376 -53 845 not_retained Alternative sequence ID=VSP_017140;Note=In isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11401438;Dbxref=PMID:11401438 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000524845 Q5H9R7 + 1 23 516_544 -53 845 not_retained Alternative sequence ID=VSP_017141;Note=In isoform 3%2C isoform 4 and isoform 6. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11401438,ECO:0000303|PubMed:15489334;Dbxref=PMID:11401438,PMID:15489334 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000524845 Q5H9R7 + 1 23 544_549 -53 845 not_retained Alternative sequence ID=VSP_017142;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000524845 Q5H9R7 + 1 23 817_817 -53 845 not_retained Alternative sequence ID=VSP_017143;Note=In isoform 5. S->RVLKSYR;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10997877;Dbxref=PMID:10997877 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000524845 Q5H9R7 + 1 23 857_873 -53 845 not_retained Alternative sequence ID=VSP_017144;Note=In isoform 3. RTGQPSAPGDTSVNGPV->SGVEIPALPGQWSQQ;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11401438;Dbxref=PMID:11401438 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000524845 Q5H9R7 + 1 23 842_842 -53 845 not_retained Natural variant ID=VAR_057720;Note=A->V;Dbxref=dbSNP:rs34009811 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000524845 Q5H9R7 + 1 23 292_292 -53 845 not_retained Sequence conflict Note=P->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000524845 Q5H9R7 + 1 23 443_443 -53 845 not_retained Sequence conflict Note=M->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000524845 Q5H9R7 + 1 23 477_477 -53 845 not_retained Sequence conflict Note=N->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000524845 Q5H9R7 + 1 23 677_677 -53 845 not_retained Sequence conflict Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000524904 Q5H9R7 + 1 24 1_873 -53 868 not_retained Chain ID=PRO_0000046100;Note=Serine/threonine-protein phosphatase 6 regulatory subunit 3 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000524904 Q5H9R7 + 1 24 315_315 -53 868 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q922D4 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000524904 Q5H9R7 + 1 24 579_579 -53 868 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:16964243,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163;Dbxref=PMID:16964243,PMID:19690332,PMID:20068231,PMID:21406692,PMID:23186163 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000524904 Q5H9R7 + 1 24 617_617 -53 868 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:19369195,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:17081983,PMID:18691976,PMID:19369195,PMID:19690332,PMID:20068231,PMID:21406692,PMID:23186163,PMID:24275569 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000524904 Q5H9R7 + 1 24 631_631 -53 868 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000524904 Q5H9R7 + 1 24 634_634 -53 868 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000524904 Q5H9R7 + 1 24 722_722 -53 868 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000524904 Q5H9R7 + 1 24 853_853 -53 868 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000524904 Q5H9R7 + 1 24 326_376 -53 868 not_retained Alternative sequence ID=VSP_017140;Note=In isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11401438;Dbxref=PMID:11401438 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000524904 Q5H9R7 + 1 24 516_544 -53 868 not_retained Alternative sequence ID=VSP_017141;Note=In isoform 3%2C isoform 4 and isoform 6. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11401438,ECO:0000303|PubMed:15489334;Dbxref=PMID:11401438,PMID:15489334 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000524904 Q5H9R7 + 1 24 544_549 -53 868 not_retained Alternative sequence ID=VSP_017142;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000524904 Q5H9R7 + 1 24 817_817 -53 868 not_retained Alternative sequence ID=VSP_017143;Note=In isoform 5. S->RVLKSYR;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10997877;Dbxref=PMID:10997877 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000524904 Q5H9R7 + 1 24 857_873 -53 868 not_retained Alternative sequence ID=VSP_017144;Note=In isoform 3. RTGQPSAPGDTSVNGPV->SGVEIPALPGQWSQQ;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11401438;Dbxref=PMID:11401438 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000524904 Q5H9R7 + 1 24 842_842 -53 868 not_retained Natural variant ID=VAR_057720;Note=A->V;Dbxref=dbSNP:rs34009811 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000524904 Q5H9R7 + 1 24 292_292 -53 868 not_retained Sequence conflict Note=P->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000524904 Q5H9R7 + 1 24 443_443 -53 868 not_retained Sequence conflict Note=M->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000524904 Q5H9R7 + 1 24 477_477 -53 868 not_retained Sequence conflict Note=N->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000524904 Q5H9R7 + 1 24 677_677 -53 868 not_retained Sequence conflict Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000393801 Q5H9R7 + 1 25 1_873 -53 880 not_retained Chain ID=PRO_0000046100;Note=Serine/threonine-protein phosphatase 6 regulatory subunit 3 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000393801 Q5H9R7 + 1 25 315_315 -53 880 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q922D4 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000393801 Q5H9R7 + 1 25 579_579 -53 880 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:16964243,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163;Dbxref=PMID:16964243,PMID:19690332,PMID:20068231,PMID:21406692,PMID:23186163 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000393801 Q5H9R7 + 1 25 617_617 -53 880 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:19369195,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:17081983,PMID:18691976,PMID:19369195,PMID:19690332,PMID:20068231,PMID:21406692,PMID:23186163,PMID:24275569 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000393801 Q5H9R7 + 1 25 631_631 -53 880 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000393801 Q5H9R7 + 1 25 634_634 -53 880 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000393801 Q5H9R7 + 1 25 722_722 -53 880 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000393801 Q5H9R7 + 1 25 853_853 -53 880 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000393801 Q5H9R7 + 1 25 326_376 -53 880 not_retained Alternative sequence ID=VSP_017140;Note=In isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11401438;Dbxref=PMID:11401438 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000393801 Q5H9R7 + 1 25 516_544 -53 880 not_retained Alternative sequence ID=VSP_017141;Note=In isoform 3%2C isoform 4 and isoform 6. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11401438,ECO:0000303|PubMed:15489334;Dbxref=PMID:11401438,PMID:15489334 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000393801 Q5H9R7 + 1 25 544_549 -53 880 not_retained Alternative sequence ID=VSP_017142;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000393801 Q5H9R7 + 1 25 817_817 -53 880 not_retained Alternative sequence ID=VSP_017143;Note=In isoform 5. S->RVLKSYR;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10997877;Dbxref=PMID:10997877 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000393801 Q5H9R7 + 1 25 857_873 -53 880 not_retained Alternative sequence ID=VSP_017144;Note=In isoform 3. RTGQPSAPGDTSVNGPV->SGVEIPALPGQWSQQ;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11401438;Dbxref=PMID:11401438 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000393801 Q5H9R7 + 1 25 842_842 -53 880 not_retained Natural variant ID=VAR_057720;Note=A->V;Dbxref=dbSNP:rs34009811 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000393801 Q5H9R7 + 1 25 292_292 -53 880 not_retained Sequence conflict Note=P->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000393801 Q5H9R7 + 1 25 443_443 -53 880 not_retained Sequence conflict Note=M->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000393801 Q5H9R7 + 1 25 477_477 -53 880 not_retained Sequence conflict Note=N->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000393801 Q5H9R7 + 1 25 677_677 -53 880 not_retained Sequence conflict Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000265636 Q5H9R7 + 1 23 1_873 -88 794 not_retained Chain ID=PRO_0000046100;Note=Serine/threonine-protein phosphatase 6 regulatory subunit 3 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000265636 Q5H9R7 + 1 23 315_315 -88 794 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q922D4 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000265636 Q5H9R7 + 1 23 579_579 -88 794 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:16964243,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163;Dbxref=PMID:16964243,PMID:19690332,PMID:20068231,PMID:21406692,PMID:23186163 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000265636 Q5H9R7 + 1 23 617_617 -88 794 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:19369195,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:17081983,PMID:18691976,PMID:19369195,PMID:19690332,PMID:20068231,PMID:21406692,PMID:23186163,PMID:24275569 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000265636 Q5H9R7 + 1 23 631_631 -88 794 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000265636 Q5H9R7 + 1 23 634_634 -88 794 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000265636 Q5H9R7 + 1 23 722_722 -88 794 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000265636 Q5H9R7 + 1 23 853_853 -88 794 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000265636 Q5H9R7 + 1 23 326_376 -88 794 not_retained Alternative sequence ID=VSP_017140;Note=In isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11401438;Dbxref=PMID:11401438 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000265636 Q5H9R7 + 1 23 516_544 -88 794 not_retained Alternative sequence ID=VSP_017141;Note=In isoform 3%2C isoform 4 and isoform 6. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11401438,ECO:0000303|PubMed:15489334;Dbxref=PMID:11401438,PMID:15489334 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000265636 Q5H9R7 + 1 23 544_549 -88 794 not_retained Alternative sequence ID=VSP_017142;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000265636 Q5H9R7 + 1 23 817_817 -88 794 not_retained Alternative sequence ID=VSP_017143;Note=In isoform 5. S->RVLKSYR;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10997877;Dbxref=PMID:10997877 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000265636 Q5H9R7 + 1 23 857_873 -88 794 not_retained Alternative sequence ID=VSP_017144;Note=In isoform 3. RTGQPSAPGDTSVNGPV->SGVEIPALPGQWSQQ;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11401438;Dbxref=PMID:11401438 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000265636 Q5H9R7 + 1 23 842_842 -88 794 not_retained Natural variant ID=VAR_057720;Note=A->V;Dbxref=dbSNP:rs34009811 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000265636 Q5H9R7 + 1 23 292_292 -88 794 not_retained Sequence conflict Note=P->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000265636 Q5H9R7 + 1 23 443_443 -88 794 not_retained Sequence conflict Note=M->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000265636 Q5H9R7 + 1 23 477_477 -88 794 not_retained Sequence conflict Note=N->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000265636 Q5H9R7 + 1 23 677_677 -88 794 not_retained Sequence conflict Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000529710 Q5H9R7 + 1 23 1_873 -88 792 not_retained Chain ID=PRO_0000046100;Note=Serine/threonine-protein phosphatase 6 regulatory subunit 3 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000529710 Q5H9R7 + 1 23 315_315 -88 792 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q922D4 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000529710 Q5H9R7 + 1 23 579_579 -88 792 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:16964243,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163;Dbxref=PMID:16964243,PMID:19690332,PMID:20068231,PMID:21406692,PMID:23186163 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000529710 Q5H9R7 + 1 23 617_617 -88 792 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:19369195,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:17081983,PMID:18691976,PMID:19369195,PMID:19690332,PMID:20068231,PMID:21406692,PMID:23186163,PMID:24275569 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000529710 Q5H9R7 + 1 23 631_631 -88 792 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000529710 Q5H9R7 + 1 23 634_634 -88 792 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000529710 Q5H9R7 + 1 23 722_722 -88 792 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000529710 Q5H9R7 + 1 23 853_853 -88 792 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000529710 Q5H9R7 + 1 23 326_376 -88 792 not_retained Alternative sequence ID=VSP_017140;Note=In isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11401438;Dbxref=PMID:11401438 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000529710 Q5H9R7 + 1 23 516_544 -88 792 not_retained Alternative sequence ID=VSP_017141;Note=In isoform 3%2C isoform 4 and isoform 6. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11401438,ECO:0000303|PubMed:15489334;Dbxref=PMID:11401438,PMID:15489334 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000529710 Q5H9R7 + 1 23 544_549 -88 792 not_retained Alternative sequence ID=VSP_017142;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000529710 Q5H9R7 + 1 23 817_817 -88 792 not_retained Alternative sequence ID=VSP_017143;Note=In isoform 5. S->RVLKSYR;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10997877;Dbxref=PMID:10997877 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000529710 Q5H9R7 + 1 23 857_873 -88 792 not_retained Alternative sequence ID=VSP_017144;Note=In isoform 3. RTGQPSAPGDTSVNGPV->SGVEIPALPGQWSQQ;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11401438;Dbxref=PMID:11401438 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000529710 Q5H9R7 + 1 23 842_842 -88 792 not_retained Natural variant ID=VAR_057720;Note=A->V;Dbxref=dbSNP:rs34009811 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000529710 Q5H9R7 + 1 23 292_292 -88 792 not_retained Sequence conflict Note=P->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000529710 Q5H9R7 + 1 23 443_443 -88 792 not_retained Sequence conflict Note=M->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000529710 Q5H9R7 + 1 23 477_477 -88 792 not_retained Sequence conflict Note=N->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000529710 Q5H9R7 + 1 23 677_677 -88 792 not_retained Sequence conflict Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000306729 Q9BZE9 + 7 17 1_1 311 648 retained Initiator methionine Note=Removed;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:22223895,ECO:0000244|PubMed:22814378;Dbxref=PMID:22223895,PMID:22814378 Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000306729 Q9BZE9 + 7 17 2_553 311 648 not_retained Chain ID=PRO_0000249885;Note=Tether containing UBX domain for GLUT4 Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000306729 Q9BZE9 + 7 17 386_462 311 648 not_retained Domain Note=UBX;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00215 Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000306729 Q9BZE9 + 7 17 317_380 311 648 not_retained Region Note=Interaction with GLUT4;Ontology_term=ECO:0000250;evidence=ECO:0000250 Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000306729 Q9BZE9 + 7 17 311_312 311 648 retained Site Note=Breakpoint for translocation to form ASPSCR1-TFE3 Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000306729 Q9BZE9 + 7 17 2_2 311 648 retained Modified residue Note=N-acetylalanine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:22223895,ECO:0000244|PubMed:22814378;Dbxref=PMID:22223895,PMID:22814378 Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000306729 Q9BZE9 + 7 17 184_184 311 648 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8VBT9 Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000306729 Q9BZE9 + 7 17 275_275 311 648 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:23186163,PMID:24275569 Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000306729 Q9BZE9 + 7 17 500_500 311 648 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:21406692,PMID:23186163,PMID:24275569 Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000306729 Q9BZE9 + 7 17 502_502 311 648 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:23186163,PMID:24275569 Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000306729 Q9BZE9 + 7 17 1_77 311 648 retained Alternative sequence ID=VSP_020574;Note=In isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000306729 Q9BZE9 + 7 17 390_425 311 648 not_retained Alternative sequence ID=VSP_020575;Note=In isoform 4. KVALRVLFPDRYVLQGFFRPSETVGDLRDFVRSHLG->RRSLSLSPRLESVVPSQLTASSASRVQVVLLPQPPK;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000306729 Q9BZE9 + 7 17 426_553 311 648 not_retained Alternative sequence ID=VSP_020576;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000306729 Q9BZE9 + 7 17 434_434 311 648 not_retained Alternative sequence ID=VSP_020577;Note=In isoform 3. F->CLSSFGRMDGRGPRCFLTRRCLLSSV;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000306729 Q9BZE9 + 7 17 451_451 311 648 not_retained Alternative sequence ID=VSP_020578;Note=In isoform 2. Q->QPQLGDRVAPFTLGPSLKRCLGPEQRTRLPVVGDGGDVDSGRLLFWGPSRGRASPSTGQPPCHPVCRPSSPPSPRPSSGDPSRVKAGHKHVGTGR;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000306729 Q9BZE9 + 7 17 252_252 311 648 retained Natural variant ID=VAR_027503;Note=L->Q;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14702039,ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs8074498,PMID:14702039,PMID:15489334 Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000306729 Q9BZE9 + 7 17 318_318 311 648 not_retained Natural variant ID=VAR_034745;Note=V->M;Dbxref=dbSNP:rs34085048 Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000306729 Q9BZE9 + 7 17 487_487 311 648 not_retained Natural variant ID=VAR_027504;Note=D->E;Dbxref=dbSNP:rs13087 Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000306729 Q9BZE9 + 7 17 257_257 311 648 retained Sequence conflict Note=G->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000306729 Q9BZE9 + 7 17 444_444 311 648 not_retained Sequence conflict Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000306729 Q9BZE9 + 7 17 323_325 311 648 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IFS Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000306729 Q9BZE9 + 7 17 327_329 311 648 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IFS Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000306729 Q9BZE9 + 7 17 342_345 311 648 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IFS Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000306729 Q9BZE9 + 7 17 349_368 311 648 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IFS Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000306729 Q9BZE9 + 7 17 374_387 311 648 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IFS Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000306729 Q9BZE9 + 7 17 391_396 311 648 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IFS Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000306729 Q9BZE9 + 7 17 402_407 311 648 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IFS Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000306729 Q9BZE9 + 7 17 413_422 311 648 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IFS Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000306729 Q9BZE9 + 7 17 424_426 311 648 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IFS Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000306729 Q9BZE9 + 7 17 432_435 311 648 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IFS Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000306729 Q9BZE9 + 7 17 436_439 311 648 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IFS Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000306729 Q9BZE9 + 7 17 445_448 311 648 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IFW Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000306729 Q9BZE9 + 7 17 449_453 311 648 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IFS Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000306729 Q9BZE9 + 7 17 456_463 311 648 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IFS Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000306729 Q9BZE9 + 7 17 467_469 311 648 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IFW Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000306729 Q9BZE9 + 7 17 474_477 311 648 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IFS Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000306729 Q9BZE9 + 7 17 483_494 311 648 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IFS Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000306739 Q9BZE9 + 7 16 1_1 311 554 retained Initiator methionine Note=Removed;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:22223895,ECO:0000244|PubMed:22814378;Dbxref=PMID:22223895,PMID:22814378 Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000306739 Q9BZE9 + 7 16 2_553 311 554 not_retained Chain ID=PRO_0000249885;Note=Tether containing UBX domain for GLUT4 Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000306739 Q9BZE9 + 7 16 386_462 311 554 not_retained Domain Note=UBX;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00215 Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000306739 Q9BZE9 + 7 16 317_380 311 554 not_retained Region Note=Interaction with GLUT4;Ontology_term=ECO:0000250;evidence=ECO:0000250 Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000306739 Q9BZE9 + 7 16 311_312 311 554 retained Site Note=Breakpoint for translocation to form ASPSCR1-TFE3 Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000306739 Q9BZE9 + 7 16 2_2 311 554 retained Modified residue Note=N-acetylalanine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:22223895,ECO:0000244|PubMed:22814378;Dbxref=PMID:22223895,PMID:22814378 Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000306739 Q9BZE9 + 7 16 184_184 311 554 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8VBT9 Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000306739 Q9BZE9 + 7 16 275_275 311 554 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:23186163,PMID:24275569 Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000306739 Q9BZE9 + 7 16 500_500 311 554 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:21406692,PMID:23186163,PMID:24275569 Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000306739 Q9BZE9 + 7 16 502_502 311 554 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:23186163,PMID:24275569 Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000306739 Q9BZE9 + 7 16 1_77 311 554 retained Alternative sequence ID=VSP_020574;Note=In isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000306739 Q9BZE9 + 7 16 390_425 311 554 not_retained Alternative sequence ID=VSP_020575;Note=In isoform 4. KVALRVLFPDRYVLQGFFRPSETVGDLRDFVRSHLG->RRSLSLSPRLESVVPSQLTASSASRVQVVLLPQPPK;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000306739 Q9BZE9 + 7 16 426_553 311 554 not_retained Alternative sequence ID=VSP_020576;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000306739 Q9BZE9 + 7 16 434_434 311 554 not_retained Alternative sequence ID=VSP_020577;Note=In isoform 3. F->CLSSFGRMDGRGPRCFLTRRCLLSSV;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000306739 Q9BZE9 + 7 16 451_451 311 554 not_retained Alternative sequence ID=VSP_020578;Note=In isoform 2. Q->QPQLGDRVAPFTLGPSLKRCLGPEQRTRLPVVGDGGDVDSGRLLFWGPSRGRASPSTGQPPCHPVCRPSSPPSPRPSSGDPSRVKAGHKHVGTGR;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000306739 Q9BZE9 + 7 16 252_252 311 554 retained Natural variant ID=VAR_027503;Note=L->Q;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14702039,ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs8074498,PMID:14702039,PMID:15489334 Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000306739 Q9BZE9 + 7 16 318_318 311 554 not_retained Natural variant ID=VAR_034745;Note=V->M;Dbxref=dbSNP:rs34085048 Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000306739 Q9BZE9 + 7 16 487_487 311 554 not_retained Natural variant ID=VAR_027504;Note=D->E;Dbxref=dbSNP:rs13087 Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000306739 Q9BZE9 + 7 16 257_257 311 554 retained Sequence conflict Note=G->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000306739 Q9BZE9 + 7 16 444_444 311 554 not_retained Sequence conflict Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000306739 Q9BZE9 + 7 16 323_325 311 554 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IFS Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000306739 Q9BZE9 + 7 16 327_329 311 554 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IFS Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000306739 Q9BZE9 + 7 16 342_345 311 554 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IFS Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000306739 Q9BZE9 + 7 16 349_368 311 554 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IFS Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000306739 Q9BZE9 + 7 16 374_387 311 554 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IFS Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000306739 Q9BZE9 + 7 16 391_396 311 554 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IFS Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000306739 Q9BZE9 + 7 16 402_407 311 554 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IFS Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000306739 Q9BZE9 + 7 16 413_422 311 554 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IFS Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000306739 Q9BZE9 + 7 16 424_426 311 554 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IFS Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000306739 Q9BZE9 + 7 16 432_435 311 554 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IFS Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000306739 Q9BZE9 + 7 16 436_439 311 554 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IFS Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000306739 Q9BZE9 + 7 16 445_448 311 554 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IFW Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000306739 Q9BZE9 + 7 16 449_453 311 554 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IFS Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000306739 Q9BZE9 + 7 16 456_463 311 554 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IFS Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000306739 Q9BZE9 + 7 16 467_469 311 554 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IFW Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000306739 Q9BZE9 + 7 16 474_477 311 554 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IFS Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000306739 Q9BZE9 + 7 16 483_494 311 554 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IFS Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000580534 Q9BZE9 + 6 15 1_1 234 502 retained Initiator methionine Note=Removed;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:22223895,ECO:0000244|PubMed:22814378;Dbxref=PMID:22223895,PMID:22814378 Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000580534 Q9BZE9 + 6 15 2_553 234 502 not_retained Chain ID=PRO_0000249885;Note=Tether containing UBX domain for GLUT4 Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000580534 Q9BZE9 + 6 15 386_462 234 502 not_retained Domain Note=UBX;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00215 Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000580534 Q9BZE9 + 6 15 317_380 234 502 not_retained Region Note=Interaction with GLUT4;Ontology_term=ECO:0000250;evidence=ECO:0000250 Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000580534 Q9BZE9 + 6 15 311_312 234 502 not_retained Site Note=Breakpoint for translocation to form ASPSCR1-TFE3 Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000580534 Q9BZE9 + 6 15 2_2 234 502 retained Modified residue Note=N-acetylalanine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:22223895,ECO:0000244|PubMed:22814378;Dbxref=PMID:22223895,PMID:22814378 Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000580534 Q9BZE9 + 6 15 184_184 234 502 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8VBT9 Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000580534 Q9BZE9 + 6 15 275_275 234 502 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:23186163,PMID:24275569 Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000580534 Q9BZE9 + 6 15 500_500 234 502 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:21406692,PMID:23186163,PMID:24275569 Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000580534 Q9BZE9 + 6 15 502_502 234 502 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:23186163,PMID:24275569 Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000580534 Q9BZE9 + 6 15 1_77 234 502 retained Alternative sequence ID=VSP_020574;Note=In isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000580534 Q9BZE9 + 6 15 390_425 234 502 not_retained Alternative sequence ID=VSP_020575;Note=In isoform 4. KVALRVLFPDRYVLQGFFRPSETVGDLRDFVRSHLG->RRSLSLSPRLESVVPSQLTASSASRVQVVLLPQPPK;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000580534 Q9BZE9 + 6 15 426_553 234 502 not_retained Alternative sequence ID=VSP_020576;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000580534 Q9BZE9 + 6 15 434_434 234 502 not_retained Alternative sequence ID=VSP_020577;Note=In isoform 3. F->CLSSFGRMDGRGPRCFLTRRCLLSSV;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000580534 Q9BZE9 + 6 15 451_451 234 502 not_retained Alternative sequence ID=VSP_020578;Note=In isoform 2. Q->QPQLGDRVAPFTLGPSLKRCLGPEQRTRLPVVGDGGDVDSGRLLFWGPSRGRASPSTGQPPCHPVCRPSSPPSPRPSSGDPSRVKAGHKHVGTGR;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000580534 Q9BZE9 + 6 15 252_252 234 502 not_retained Natural variant ID=VAR_027503;Note=L->Q;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14702039,ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs8074498,PMID:14702039,PMID:15489334 Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000580534 Q9BZE9 + 6 15 318_318 234 502 not_retained Natural variant ID=VAR_034745;Note=V->M;Dbxref=dbSNP:rs34085048 Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000580534 Q9BZE9 + 6 15 487_487 234 502 not_retained Natural variant ID=VAR_027504;Note=D->E;Dbxref=dbSNP:rs13087 Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000580534 Q9BZE9 + 6 15 257_257 234 502 not_retained Sequence conflict Note=G->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000580534 Q9BZE9 + 6 15 444_444 234 502 not_retained Sequence conflict Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000580534 Q9BZE9 + 6 15 323_325 234 502 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IFS Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000580534 Q9BZE9 + 6 15 327_329 234 502 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IFS Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000580534 Q9BZE9 + 6 15 342_345 234 502 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IFS Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000580534 Q9BZE9 + 6 15 349_368 234 502 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IFS Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000580534 Q9BZE9 + 6 15 374_387 234 502 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IFS Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000580534 Q9BZE9 + 6 15 391_396 234 502 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IFS Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000580534 Q9BZE9 + 6 15 402_407 234 502 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IFS Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000580534 Q9BZE9 + 6 15 413_422 234 502 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IFS Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000580534 Q9BZE9 + 6 15 424_426 234 502 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IFS Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000580534 Q9BZE9 + 6 15 432_435 234 502 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IFS Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000580534 Q9BZE9 + 6 15 436_439 234 502 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IFS Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000580534 Q9BZE9 + 6 15 445_448 234 502 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IFW Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000580534 Q9BZE9 + 6 15 449_453 234 502 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IFS Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000580534 Q9BZE9 + 6 15 456_463 234 502 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IFS Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000580534 Q9BZE9 + 6 15 467_469 234 502 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IFW Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000580534 Q9BZE9 + 6 15 474_477 234 502 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IFS Hgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000580534 Q9BZE9 + 6 15 483_494 234 502 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IFS Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000419152 P29692 - 1 9 1_1 -171 282 not_retained Alternative sequence ID=VSP_037884;Note=In isoform 2. M->MRSGKASCTLETVWEDKHKYEEAERRFYEHEATQAAASAQQLPAEGPAMNGPGQDDPEDADEAEAPDGGSRRDPRKSQDSRKPLQKKRKRSPKSGLGPADLALLGLSAERVWLDKSLFDQAESSYRQKLADVAAQAAWPPALAPWGLCTHGNQVACHHVTWGIWVNKSSFDQAERAFVEWSQALLLAPDGSRRQGTPNTGQQVAVPDLAHQPSPPVNGQPPLGSLQALVREVWLEKPRYDAAERGFYEALFDGHPPGKVRLQERAGLAEGARRGRRDRRGRNILGNKRAGLRRADGEAPSALPYCYFLQKDAEAPWLSKPAYDSAECRHHAAEALRVAWCLEAASLSHRPGPRSGLSVSSLRPNRKM;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|Ref.3;Dbxref=PMID:15489334 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000419152 P29692 - 1 9 2_281 -171 282 not_retained Chain ID=PRO_0000155046;Note=Elongation factor 1-delta Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000419152 P29692 - 1 9 80_115 -171 282 not_retained Region Note=Leucine-zipper Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000419152 P29692 - 1 9 173_281 -171 282 not_retained Region Note=Catalytic (GEF) Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000419152 P29692 - 1 9 2_2 -171 282 not_retained Modified residue Note=N-acetylalanine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:22223895,ECO:0000244|PubMed:25944712,ECO:0000269|Ref.9;Dbxref=PMID:22223895,PMID:25944712 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000419152 P29692 - 1 9 17_17 -171 282 not_retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000419152 P29692 - 1 9 37_37 -171 282 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000419152 P29692 - 1 9 44_44 -171 282 not_retained Sequence conflict Note=S->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000419152 P29692 - 1 9 60_60 -171 282 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:23186163,PMID:24275569 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000419152 P29692 - 1 9 73_73 -171 282 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000419152 P29692 - 1 9 86_86 -171 282 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000419152 P29692 - 1 9 106_106 -171 282 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q68FR9 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000419152 P29692 - 1 9 107_107 -171 282 not_retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000419152 P29692 - 1 9 117_117 -171 282 not_retained Modified residue Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P57776 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000419152 P29692 - 1 9 117_117 -171 282 not_retained Modified residue Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P57776 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000419152 P29692 - 1 9 119_119 -171 282 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000419152 P29692 - 1 9 129_129 -171 282 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:23186163,PMID:24275569 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000419152 P29692 - 1 9 133_133 -171 282 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:17487921,ECO:0000244|PubMed:17924679,ECO:0000244|PubMed:18220336,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:19369195,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:17081983,PMID:17487921,PMID:17924679,PMID:18220336,PMID:18669648,PMID:18691976,PMID:19369195,PMID:20068231,PMID:21406692,PMID:23186163,PMID:24275569 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000419152 P29692 - 1 9 147_147 -171 282 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:23186163;Dbxref=PMID:17081983,PMID:18691976,PMID:19690332,PMID:23186163 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000419152 P29692 - 1 9 162_162 -171 282 not_retained Modified residue Note=Phosphoserine%3B by CK2;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:16807684,ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:17487921,ECO:0000244|PubMed:17693683,ECO:0000244|PubMed:18318008,ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:19367720,ECO:0000244|PubMed:19369195,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569,ECO:0000269|PubMed:21936567;Dbxref=PMID:16807684,PMID:17081983,PMID:17487921,PMID:17693683,PMID:18318008,PMID:18691976,PMID:19367720,PMID:19369195,PMID:19690332,PMID:20068231,PMID:21406692,PMID:23186163,PMID:24275569,PMID:21936567 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000419152 P29692 - 1 9 1_1 -171 282 not_retained Alternative sequence ID=VSP_037884;Note=In isoform 2. M->MRSGKASCTLETVWEDKHKYEEAERRFYEHEATQAAASAQQLPAEGPAMNGPGQDDPEDADEAEAPDGGSRRDPRKSQDSRKPLQKKRKRSPKSGLGPADLALLGLSAERVWLDKSLFDQAESSYRQKLADVAAQAAWPPALAPWGLCTHGNQVACHHVTWGIWVNKSSFDQAERAFVEWSQALLLAPDGSRRQGTPNTGQQVAVPDLAHQPSPPVNGQPPLGSLQALVREVWLEKPRYDAAERGFYEALFDGHPPGKVRLQERAGLAEGARRGRRDRRGRNILGNKRAGLRRADGEAPSALPYCYFLQKDAEAPWLSKPAYDSAECRHHAAEALRVAWCLEAASLSHRPGPRSGLSVSSLRPNRKM;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|Ref.3;Dbxref=PMID:15489334 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000419152 P29692 - 1 9 40_63 -171 282 not_retained Alternative sequence ID=VSP_043812;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000419152 P29692 - 1 9 78_96 -171 282 not_retained Alternative sequence ID=VSP_045960;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000419152 P29692 - 1 9 34_34 -171 282 not_retained Sequence conflict Note=A->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000419152 P29692 - 1 9 44_44 -171 282 not_retained Sequence conflict Note=S->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000419152 P29692 - 1 9 209_209 -171 282 not_retained Sequence conflict Note=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000419152 P29692 - 1 9 2_9 -171 282 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5JPO Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000419152 P29692 - 1 9 15_27 -171 282 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5JPO Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000419152 P29692 - 1 9 153_157 -171 282 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MVM Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000419152 P29692 - 1 9 159_161 -171 282 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MVM Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000419152 P29692 - 1 9 162_165 -171 282 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MVN Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000419152 P29692 - 1 9 169_185 -171 282 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MVM Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000419152 P29692 - 1 9 187_190 -171 282 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MVN Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000419152 P29692 - 1 9 195_206 -171 282 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N51 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000419152 P29692 - 1 9 211_219 -171 282 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N51 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000419152 P29692 - 1 9 226_235 -171 282 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N51 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000419152 P29692 - 1 9 237_239 -171 282 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N51 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000419152 P29692 - 1 9 241_250 -171 282 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N51 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000419152 P29692 - 1 9 251_253 -171 282 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N51 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000419152 P29692 - 1 9 256_265 -171 282 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N51 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000419152 P29692 - 1 9 266_268 -171 282 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N51 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000419152 P29692 - 1 9 270_280 -171 282 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N51 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000317198 P29692 - 1 8 1_1 -90 282 not_retained Alternative sequence ID=VSP_037884;Note=In isoform 2. M->MRSGKASCTLETVWEDKHKYEEAERRFYEHEATQAAASAQQLPAEGPAMNGPGQDDPEDADEAEAPDGGSRRDPRKSQDSRKPLQKKRKRSPKSGLGPADLALLGLSAERVWLDKSLFDQAESSYRQKLADVAAQAAWPPALAPWGLCTHGNQVACHHVTWGIWVNKSSFDQAERAFVEWSQALLLAPDGSRRQGTPNTGQQVAVPDLAHQPSPPVNGQPPLGSLQALVREVWLEKPRYDAAERGFYEALFDGHPPGKVRLQERAGLAEGARRGRRDRRGRNILGNKRAGLRRADGEAPSALPYCYFLQKDAEAPWLSKPAYDSAECRHHAAEALRVAWCLEAASLSHRPGPRSGLSVSSLRPNRKM;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|Ref.3;Dbxref=PMID:15489334 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000317198 P29692 - 1 8 2_281 -90 282 not_retained Chain ID=PRO_0000155046;Note=Elongation factor 1-delta Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000317198 P29692 - 1 8 80_115 -90 282 not_retained Region Note=Leucine-zipper Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000317198 P29692 - 1 8 173_281 -90 282 not_retained Region Note=Catalytic (GEF) Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000317198 P29692 - 1 8 2_2 -90 282 not_retained Modified residue Note=N-acetylalanine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:22223895,ECO:0000244|PubMed:25944712,ECO:0000269|Ref.9;Dbxref=PMID:22223895,PMID:25944712 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000317198 P29692 - 1 8 17_17 -90 282 not_retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000317198 P29692 - 1 8 37_37 -90 282 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000317198 P29692 - 1 8 44_44 -90 282 not_retained Sequence conflict Note=S->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000317198 P29692 - 1 8 60_60 -90 282 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:23186163,PMID:24275569 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000317198 P29692 - 1 8 73_73 -90 282 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000317198 P29692 - 1 8 86_86 -90 282 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000317198 P29692 - 1 8 106_106 -90 282 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q68FR9 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000317198 P29692 - 1 8 107_107 -90 282 not_retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000317198 P29692 - 1 8 117_117 -90 282 not_retained Modified residue Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P57776 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000317198 P29692 - 1 8 117_117 -90 282 not_retained Modified residue Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P57776 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000317198 P29692 - 1 8 119_119 -90 282 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000317198 P29692 - 1 8 129_129 -90 282 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:23186163,PMID:24275569 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000317198 P29692 - 1 8 133_133 -90 282 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:17487921,ECO:0000244|PubMed:17924679,ECO:0000244|PubMed:18220336,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:19369195,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:17081983,PMID:17487921,PMID:17924679,PMID:18220336,PMID:18669648,PMID:18691976,PMID:19369195,PMID:20068231,PMID:21406692,PMID:23186163,PMID:24275569 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000317198 P29692 - 1 8 147_147 -90 282 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:23186163;Dbxref=PMID:17081983,PMID:18691976,PMID:19690332,PMID:23186163 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000317198 P29692 - 1 8 162_162 -90 282 not_retained Modified residue Note=Phosphoserine%3B by CK2;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:16807684,ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:17487921,ECO:0000244|PubMed:17693683,ECO:0000244|PubMed:18318008,ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:19367720,ECO:0000244|PubMed:19369195,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569,ECO:0000269|PubMed:21936567;Dbxref=PMID:16807684,PMID:17081983,PMID:17487921,PMID:17693683,PMID:18318008,PMID:18691976,PMID:19367720,PMID:19369195,PMID:19690332,PMID:20068231,PMID:21406692,PMID:23186163,PMID:24275569,PMID:21936567 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000317198 P29692 - 1 8 1_1 -90 282 not_retained Alternative sequence ID=VSP_037884;Note=In isoform 2. M->MRSGKASCTLETVWEDKHKYEEAERRFYEHEATQAAASAQQLPAEGPAMNGPGQDDPEDADEAEAPDGGSRRDPRKSQDSRKPLQKKRKRSPKSGLGPADLALLGLSAERVWLDKSLFDQAESSYRQKLADVAAQAAWPPALAPWGLCTHGNQVACHHVTWGIWVNKSSFDQAERAFVEWSQALLLAPDGSRRQGTPNTGQQVAVPDLAHQPSPPVNGQPPLGSLQALVREVWLEKPRYDAAERGFYEALFDGHPPGKVRLQERAGLAEGARRGRRDRRGRNILGNKRAGLRRADGEAPSALPYCYFLQKDAEAPWLSKPAYDSAECRHHAAEALRVAWCLEAASLSHRPGPRSGLSVSSLRPNRKM;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|Ref.3;Dbxref=PMID:15489334 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000317198 P29692 - 1 8 40_63 -90 282 not_retained Alternative sequence ID=VSP_043812;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000317198 P29692 - 1 8 78_96 -90 282 not_retained Alternative sequence ID=VSP_045960;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000317198 P29692 - 1 8 34_34 -90 282 not_retained Sequence conflict Note=A->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000317198 P29692 - 1 8 44_44 -90 282 not_retained Sequence conflict Note=S->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000317198 P29692 - 1 8 209_209 -90 282 not_retained Sequence conflict Note=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000317198 P29692 - 1 8 2_9 -90 282 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5JPO Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000317198 P29692 - 1 8 15_27 -90 282 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5JPO Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000317198 P29692 - 1 8 153_157 -90 282 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MVM Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000317198 P29692 - 1 8 159_161 -90 282 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MVM Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000317198 P29692 - 1 8 162_165 -90 282 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MVN Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000317198 P29692 - 1 8 169_185 -90 282 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MVM Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000317198 P29692 - 1 8 187_190 -90 282 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MVN Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000317198 P29692 - 1 8 195_206 -90 282 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N51 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000317198 P29692 - 1 8 211_219 -90 282 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N51 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000317198 P29692 - 1 8 226_235 -90 282 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N51 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000317198 P29692 - 1 8 237_239 -90 282 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N51 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000317198 P29692 - 1 8 241_250 -90 282 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N51 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000317198 P29692 - 1 8 251_253 -90 282 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N51 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000317198 P29692 - 1 8 256_265 -90 282 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N51 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000317198 P29692 - 1 8 266_268 -90 282 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N51 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000317198 P29692 - 1 8 270_280 -90 282 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N51 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000526838 P29692 - 1 8 1_1 -25 263 not_retained Alternative sequence ID=VSP_037884;Note=In isoform 2. M->MRSGKASCTLETVWEDKHKYEEAERRFYEHEATQAAASAQQLPAEGPAMNGPGQDDPEDADEAEAPDGGSRRDPRKSQDSRKPLQKKRKRSPKSGLGPADLALLGLSAERVWLDKSLFDQAESSYRQKLADVAAQAAWPPALAPWGLCTHGNQVACHHVTWGIWVNKSSFDQAERAFVEWSQALLLAPDGSRRQGTPNTGQQVAVPDLAHQPSPPVNGQPPLGSLQALVREVWLEKPRYDAAERGFYEALFDGHPPGKVRLQERAGLAEGARRGRRDRRGRNILGNKRAGLRRADGEAPSALPYCYFLQKDAEAPWLSKPAYDSAECRHHAAEALRVAWCLEAASLSHRPGPRSGLSVSSLRPNRKM;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|Ref.3;Dbxref=PMID:15489334 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000526838 P29692 - 1 8 2_281 -25 263 not_retained Chain ID=PRO_0000155046;Note=Elongation factor 1-delta Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000526838 P29692 - 1 8 80_115 -25 263 not_retained Region Note=Leucine-zipper Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000526838 P29692 - 1 8 173_281 -25 263 not_retained Region Note=Catalytic (GEF) Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000526838 P29692 - 1 8 2_2 -25 263 not_retained Modified residue Note=N-acetylalanine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:22223895,ECO:0000244|PubMed:25944712,ECO:0000269|Ref.9;Dbxref=PMID:22223895,PMID:25944712 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000526838 P29692 - 1 8 17_17 -25 263 not_retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000526838 P29692 - 1 8 37_37 -25 263 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000526838 P29692 - 1 8 44_44 -25 263 not_retained Sequence conflict Note=S->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000526838 P29692 - 1 8 60_60 -25 263 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:23186163,PMID:24275569 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000526838 P29692 - 1 8 73_73 -25 263 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000526838 P29692 - 1 8 86_86 -25 263 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000526838 P29692 - 1 8 106_106 -25 263 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q68FR9 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000526838 P29692 - 1 8 107_107 -25 263 not_retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000526838 P29692 - 1 8 117_117 -25 263 not_retained Modified residue Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P57776 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000526838 P29692 - 1 8 117_117 -25 263 not_retained Modified residue Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P57776 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000526838 P29692 - 1 8 119_119 -25 263 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000526838 P29692 - 1 8 129_129 -25 263 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:23186163,PMID:24275569 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000526838 P29692 - 1 8 133_133 -25 263 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:17487921,ECO:0000244|PubMed:17924679,ECO:0000244|PubMed:18220336,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:19369195,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:17081983,PMID:17487921,PMID:17924679,PMID:18220336,PMID:18669648,PMID:18691976,PMID:19369195,PMID:20068231,PMID:21406692,PMID:23186163,PMID:24275569 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000526838 P29692 - 1 8 147_147 -25 263 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:23186163;Dbxref=PMID:17081983,PMID:18691976,PMID:19690332,PMID:23186163 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000526838 P29692 - 1 8 162_162 -25 263 not_retained Modified residue Note=Phosphoserine%3B by CK2;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:16807684,ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:17487921,ECO:0000244|PubMed:17693683,ECO:0000244|PubMed:18318008,ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:19367720,ECO:0000244|PubMed:19369195,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569,ECO:0000269|PubMed:21936567;Dbxref=PMID:16807684,PMID:17081983,PMID:17487921,PMID:17693683,PMID:18318008,PMID:18691976,PMID:19367720,PMID:19369195,PMID:19690332,PMID:20068231,PMID:21406692,PMID:23186163,PMID:24275569,PMID:21936567 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000526838 P29692 - 1 8 1_1 -25 263 not_retained Alternative sequence ID=VSP_037884;Note=In isoform 2. M->MRSGKASCTLETVWEDKHKYEEAERRFYEHEATQAAASAQQLPAEGPAMNGPGQDDPEDADEAEAPDGGSRRDPRKSQDSRKPLQKKRKRSPKSGLGPADLALLGLSAERVWLDKSLFDQAESSYRQKLADVAAQAAWPPALAPWGLCTHGNQVACHHVTWGIWVNKSSFDQAERAFVEWSQALLLAPDGSRRQGTPNTGQQVAVPDLAHQPSPPVNGQPPLGSLQALVREVWLEKPRYDAAERGFYEALFDGHPPGKVRLQERAGLAEGARRGRRDRRGRNILGNKRAGLRRADGEAPSALPYCYFLQKDAEAPWLSKPAYDSAECRHHAAEALRVAWCLEAASLSHRPGPRSGLSVSSLRPNRKM;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|Ref.3;Dbxref=PMID:15489334 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000526838 P29692 - 1 8 40_63 -25 263 not_retained Alternative sequence ID=VSP_043812;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000526838 P29692 - 1 8 78_96 -25 263 not_retained Alternative sequence ID=VSP_045960;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000526838 P29692 - 1 8 34_34 -25 263 not_retained Sequence conflict Note=A->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000526838 P29692 - 1 8 44_44 -25 263 not_retained Sequence conflict Note=S->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000526838 P29692 - 1 8 209_209 -25 263 not_retained Sequence conflict Note=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000526838 P29692 - 1 8 2_9 -25 263 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5JPO Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000526838 P29692 - 1 8 15_27 -25 263 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5JPO Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000526838 P29692 - 1 8 153_157 -25 263 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MVM Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000526838 P29692 - 1 8 159_161 -25 263 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MVM Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000526838 P29692 - 1 8 162_165 -25 263 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MVN Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000526838 P29692 - 1 8 169_185 -25 263 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MVM Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000526838 P29692 - 1 8 187_190 -25 263 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MVN Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000526838 P29692 - 1 8 195_206 -25 263 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N51 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000526838 P29692 - 1 8 211_219 -25 263 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N51 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000526838 P29692 - 1 8 226_235 -25 263 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N51 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000526838 P29692 - 1 8 237_239 -25 263 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N51 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000526838 P29692 - 1 8 241_250 -25 263 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N51 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000526838 P29692 - 1 8 251_253 -25 263 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N51 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000526838 P29692 - 1 8 256_265 -25 263 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N51 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000526838 P29692 - 1 8 266_268 -25 263 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N51 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000526838 P29692 - 1 8 270_280 -25 263 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N51 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000442189 P29692 - 1 10 1_1 -67 648 not_retained Alternative sequence ID=VSP_037884;Note=In isoform 2. M->MRSGKASCTLETVWEDKHKYEEAERRFYEHEATQAAASAQQLPAEGPAMNGPGQDDPEDADEAEAPDGGSRRDPRKSQDSRKPLQKKRKRSPKSGLGPADLALLGLSAERVWLDKSLFDQAESSYRQKLADVAAQAAWPPALAPWGLCTHGNQVACHHVTWGIWVNKSSFDQAERAFVEWSQALLLAPDGSRRQGTPNTGQQVAVPDLAHQPSPPVNGQPPLGSLQALVREVWLEKPRYDAAERGFYEALFDGHPPGKVRLQERAGLAEGARRGRRDRRGRNILGNKRAGLRRADGEAPSALPYCYFLQKDAEAPWLSKPAYDSAECRHHAAEALRVAWCLEAASLSHRPGPRSGLSVSSLRPNRKM;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|Ref.3;Dbxref=PMID:15489334 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000442189 P29692 - 1 10 2_281 -67 648 not_retained Chain ID=PRO_0000155046;Note=Elongation factor 1-delta Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000442189 P29692 - 1 10 80_115 -67 648 not_retained Region Note=Leucine-zipper Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000442189 P29692 - 1 10 173_281 -67 648 not_retained Region Note=Catalytic (GEF) Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000442189 P29692 - 1 10 2_2 -67 648 not_retained Modified residue Note=N-acetylalanine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:22223895,ECO:0000244|PubMed:25944712,ECO:0000269|Ref.9;Dbxref=PMID:22223895,PMID:25944712 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000442189 P29692 - 1 10 17_17 -67 648 not_retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000442189 P29692 - 1 10 37_37 -67 648 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000442189 P29692 - 1 10 44_44 -67 648 not_retained Sequence conflict Note=S->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000442189 P29692 - 1 10 60_60 -67 648 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:23186163,PMID:24275569 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000442189 P29692 - 1 10 73_73 -67 648 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000442189 P29692 - 1 10 86_86 -67 648 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000442189 P29692 - 1 10 106_106 -67 648 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q68FR9 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000442189 P29692 - 1 10 107_107 -67 648 not_retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000442189 P29692 - 1 10 117_117 -67 648 not_retained Modified residue Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P57776 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000442189 P29692 - 1 10 117_117 -67 648 not_retained Modified residue Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P57776 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000442189 P29692 - 1 10 119_119 -67 648 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000442189 P29692 - 1 10 129_129 -67 648 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:23186163,PMID:24275569 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000442189 P29692 - 1 10 133_133 -67 648 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:17487921,ECO:0000244|PubMed:17924679,ECO:0000244|PubMed:18220336,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:19369195,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:17081983,PMID:17487921,PMID:17924679,PMID:18220336,PMID:18669648,PMID:18691976,PMID:19369195,PMID:20068231,PMID:21406692,PMID:23186163,PMID:24275569 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000442189 P29692 - 1 10 147_147 -67 648 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:23186163;Dbxref=PMID:17081983,PMID:18691976,PMID:19690332,PMID:23186163 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000442189 P29692 - 1 10 162_162 -67 648 not_retained Modified residue Note=Phosphoserine%3B by CK2;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:16807684,ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:17487921,ECO:0000244|PubMed:17693683,ECO:0000244|PubMed:18318008,ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:19367720,ECO:0000244|PubMed:19369195,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569,ECO:0000269|PubMed:21936567;Dbxref=PMID:16807684,PMID:17081983,PMID:17487921,PMID:17693683,PMID:18318008,PMID:18691976,PMID:19367720,PMID:19369195,PMID:19690332,PMID:20068231,PMID:21406692,PMID:23186163,PMID:24275569,PMID:21936567 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000442189 P29692 - 1 10 1_1 -67 648 not_retained Alternative sequence ID=VSP_037884;Note=In isoform 2. M->MRSGKASCTLETVWEDKHKYEEAERRFYEHEATQAAASAQQLPAEGPAMNGPGQDDPEDADEAEAPDGGSRRDPRKSQDSRKPLQKKRKRSPKSGLGPADLALLGLSAERVWLDKSLFDQAESSYRQKLADVAAQAAWPPALAPWGLCTHGNQVACHHVTWGIWVNKSSFDQAERAFVEWSQALLLAPDGSRRQGTPNTGQQVAVPDLAHQPSPPVNGQPPLGSLQALVREVWLEKPRYDAAERGFYEALFDGHPPGKVRLQERAGLAEGARRGRRDRRGRNILGNKRAGLRRADGEAPSALPYCYFLQKDAEAPWLSKPAYDSAECRHHAAEALRVAWCLEAASLSHRPGPRSGLSVSSLRPNRKM;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|Ref.3;Dbxref=PMID:15489334 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000442189 P29692 - 1 10 40_63 -67 648 not_retained Alternative sequence ID=VSP_043812;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000442189 P29692 - 1 10 78_96 -67 648 not_retained Alternative sequence ID=VSP_045960;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000442189 P29692 - 1 10 34_34 -67 648 not_retained Sequence conflict Note=A->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000442189 P29692 - 1 10 44_44 -67 648 not_retained Sequence conflict Note=S->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000442189 P29692 - 1 10 209_209 -67 648 not_retained Sequence conflict Note=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000442189 P29692 - 1 10 2_9 -67 648 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5JPO Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000442189 P29692 - 1 10 15_27 -67 648 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5JPO Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000442189 P29692 - 1 10 153_157 -67 648 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MVM Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000442189 P29692 - 1 10 159_161 -67 648 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MVM Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000442189 P29692 - 1 10 162_165 -67 648 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MVN Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000442189 P29692 - 1 10 169_185 -67 648 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MVM Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000442189 P29692 - 1 10 187_190 -67 648 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MVN Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000442189 P29692 - 1 10 195_206 -67 648 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N51 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000442189 P29692 - 1 10 211_219 -67 648 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N51 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000442189 P29692 - 1 10 226_235 -67 648 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N51 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000442189 P29692 - 1 10 237_239 -67 648 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N51 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000442189 P29692 - 1 10 241_250 -67 648 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N51 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000442189 P29692 - 1 10 251_253 -67 648 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N51 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000442189 P29692 - 1 10 256_265 -67 648 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N51 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000442189 P29692 - 1 10 266_268 -67 648 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N51 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000442189 P29692 - 1 10 270_280 -67 648 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N51 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000528610 P29692 - 1 7 1_1 -29 258 not_retained Alternative sequence ID=VSP_037884;Note=In isoform 2. M->MRSGKASCTLETVWEDKHKYEEAERRFYEHEATQAAASAQQLPAEGPAMNGPGQDDPEDADEAEAPDGGSRRDPRKSQDSRKPLQKKRKRSPKSGLGPADLALLGLSAERVWLDKSLFDQAESSYRQKLADVAAQAAWPPALAPWGLCTHGNQVACHHVTWGIWVNKSSFDQAERAFVEWSQALLLAPDGSRRQGTPNTGQQVAVPDLAHQPSPPVNGQPPLGSLQALVREVWLEKPRYDAAERGFYEALFDGHPPGKVRLQERAGLAEGARRGRRDRRGRNILGNKRAGLRRADGEAPSALPYCYFLQKDAEAPWLSKPAYDSAECRHHAAEALRVAWCLEAASLSHRPGPRSGLSVSSLRPNRKM;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|Ref.3;Dbxref=PMID:15489334 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000528610 P29692 - 1 7 2_281 -29 258 not_retained Chain ID=PRO_0000155046;Note=Elongation factor 1-delta Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000528610 P29692 - 1 7 80_115 -29 258 not_retained Region Note=Leucine-zipper Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000528610 P29692 - 1 7 173_281 -29 258 not_retained Region Note=Catalytic (GEF) Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000528610 P29692 - 1 7 2_2 -29 258 not_retained Modified residue Note=N-acetylalanine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:22223895,ECO:0000244|PubMed:25944712,ECO:0000269|Ref.9;Dbxref=PMID:22223895,PMID:25944712 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000528610 P29692 - 1 7 17_17 -29 258 not_retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000528610 P29692 - 1 7 37_37 -29 258 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000528610 P29692 - 1 7 44_44 -29 258 not_retained Sequence conflict Note=S->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000528610 P29692 - 1 7 60_60 -29 258 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:23186163,PMID:24275569 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000528610 P29692 - 1 7 73_73 -29 258 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000528610 P29692 - 1 7 86_86 -29 258 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000528610 P29692 - 1 7 106_106 -29 258 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q68FR9 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000528610 P29692 - 1 7 107_107 -29 258 not_retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000528610 P29692 - 1 7 117_117 -29 258 not_retained Modified residue Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P57776 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000528610 P29692 - 1 7 117_117 -29 258 not_retained Modified residue Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P57776 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000528610 P29692 - 1 7 119_119 -29 258 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000528610 P29692 - 1 7 129_129 -29 258 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:23186163,PMID:24275569 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000528610 P29692 - 1 7 133_133 -29 258 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:17487921,ECO:0000244|PubMed:17924679,ECO:0000244|PubMed:18220336,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:19369195,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:17081983,PMID:17487921,PMID:17924679,PMID:18220336,PMID:18669648,PMID:18691976,PMID:19369195,PMID:20068231,PMID:21406692,PMID:23186163,PMID:24275569 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000528610 P29692 - 1 7 147_147 -29 258 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:23186163;Dbxref=PMID:17081983,PMID:18691976,PMID:19690332,PMID:23186163 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000528610 P29692 - 1 7 162_162 -29 258 not_retained Modified residue Note=Phosphoserine%3B by CK2;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:16807684,ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:17487921,ECO:0000244|PubMed:17693683,ECO:0000244|PubMed:18318008,ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:19367720,ECO:0000244|PubMed:19369195,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569,ECO:0000269|PubMed:21936567;Dbxref=PMID:16807684,PMID:17081983,PMID:17487921,PMID:17693683,PMID:18318008,PMID:18691976,PMID:19367720,PMID:19369195,PMID:19690332,PMID:20068231,PMID:21406692,PMID:23186163,PMID:24275569,PMID:21936567 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000528610 P29692 - 1 7 1_1 -29 258 not_retained Alternative sequence ID=VSP_037884;Note=In isoform 2. M->MRSGKASCTLETVWEDKHKYEEAERRFYEHEATQAAASAQQLPAEGPAMNGPGQDDPEDADEAEAPDGGSRRDPRKSQDSRKPLQKKRKRSPKSGLGPADLALLGLSAERVWLDKSLFDQAESSYRQKLADVAAQAAWPPALAPWGLCTHGNQVACHHVTWGIWVNKSSFDQAERAFVEWSQALLLAPDGSRRQGTPNTGQQVAVPDLAHQPSPPVNGQPPLGSLQALVREVWLEKPRYDAAERGFYEALFDGHPPGKVRLQERAGLAEGARRGRRDRRGRNILGNKRAGLRRADGEAPSALPYCYFLQKDAEAPWLSKPAYDSAECRHHAAEALRVAWCLEAASLSHRPGPRSGLSVSSLRPNRKM;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|Ref.3;Dbxref=PMID:15489334 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000528610 P29692 - 1 7 40_63 -29 258 not_retained Alternative sequence ID=VSP_043812;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000528610 P29692 - 1 7 78_96 -29 258 not_retained Alternative sequence ID=VSP_045960;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000528610 P29692 - 1 7 34_34 -29 258 not_retained Sequence conflict Note=A->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000528610 P29692 - 1 7 44_44 -29 258 not_retained Sequence conflict Note=S->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000528610 P29692 - 1 7 209_209 -29 258 not_retained Sequence conflict Note=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000528610 P29692 - 1 7 2_9 -29 258 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5JPO Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000528610 P29692 - 1 7 15_27 -29 258 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5JPO Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000528610 P29692 - 1 7 153_157 -29 258 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MVM Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000528610 P29692 - 1 7 159_161 -29 258 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MVM Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000528610 P29692 - 1 7 162_165 -29 258 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MVN Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000528610 P29692 - 1 7 169_185 -29 258 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MVM Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000528610 P29692 - 1 7 187_190 -29 258 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MVN Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000528610 P29692 - 1 7 195_206 -29 258 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N51 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000528610 P29692 - 1 7 211_219 -29 258 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N51 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000528610 P29692 - 1 7 226_235 -29 258 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N51 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000528610 P29692 - 1 7 237_239 -29 258 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N51 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000528610 P29692 - 1 7 241_250 -29 258 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N51 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000528610 P29692 - 1 7 251_253 -29 258 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N51 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000528610 P29692 - 1 7 256_265 -29 258 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N51 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000528610 P29692 - 1 7 266_268 -29 258 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N51 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000528610 P29692 - 1 7 270_280 -29 258 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N51 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000423316 P29692 - 1 10 1_1 -114 648 not_retained Alternative sequence ID=VSP_037884;Note=In isoform 2. M->MRSGKASCTLETVWEDKHKYEEAERRFYEHEATQAAASAQQLPAEGPAMNGPGQDDPEDADEAEAPDGGSRRDPRKSQDSRKPLQKKRKRSPKSGLGPADLALLGLSAERVWLDKSLFDQAESSYRQKLADVAAQAAWPPALAPWGLCTHGNQVACHHVTWGIWVNKSSFDQAERAFVEWSQALLLAPDGSRRQGTPNTGQQVAVPDLAHQPSPPVNGQPPLGSLQALVREVWLEKPRYDAAERGFYEALFDGHPPGKVRLQERAGLAEGARRGRRDRRGRNILGNKRAGLRRADGEAPSALPYCYFLQKDAEAPWLSKPAYDSAECRHHAAEALRVAWCLEAASLSHRPGPRSGLSVSSLRPNRKM;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|Ref.3;Dbxref=PMID:15489334 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000423316 P29692 - 1 10 2_281 -114 648 not_retained Chain ID=PRO_0000155046;Note=Elongation factor 1-delta Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000423316 P29692 - 1 10 80_115 -114 648 not_retained Region Note=Leucine-zipper Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000423316 P29692 - 1 10 173_281 -114 648 not_retained Region Note=Catalytic (GEF) Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000423316 P29692 - 1 10 2_2 -114 648 not_retained Modified residue Note=N-acetylalanine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:22223895,ECO:0000244|PubMed:25944712,ECO:0000269|Ref.9;Dbxref=PMID:22223895,PMID:25944712 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000423316 P29692 - 1 10 17_17 -114 648 not_retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000423316 P29692 - 1 10 37_37 -114 648 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000423316 P29692 - 1 10 44_44 -114 648 not_retained Sequence conflict Note=S->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000423316 P29692 - 1 10 60_60 -114 648 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:23186163,PMID:24275569 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000423316 P29692 - 1 10 73_73 -114 648 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000423316 P29692 - 1 10 86_86 -114 648 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000423316 P29692 - 1 10 106_106 -114 648 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q68FR9 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000423316 P29692 - 1 10 107_107 -114 648 not_retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000423316 P29692 - 1 10 117_117 -114 648 not_retained Modified residue Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P57776 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000423316 P29692 - 1 10 117_117 -114 648 not_retained Modified residue Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P57776 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000423316 P29692 - 1 10 119_119 -114 648 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000423316 P29692 - 1 10 129_129 -114 648 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:23186163,PMID:24275569 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000423316 P29692 - 1 10 133_133 -114 648 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:17487921,ECO:0000244|PubMed:17924679,ECO:0000244|PubMed:18220336,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:19369195,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:17081983,PMID:17487921,PMID:17924679,PMID:18220336,PMID:18669648,PMID:18691976,PMID:19369195,PMID:20068231,PMID:21406692,PMID:23186163,PMID:24275569 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000423316 P29692 - 1 10 147_147 -114 648 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:23186163;Dbxref=PMID:17081983,PMID:18691976,PMID:19690332,PMID:23186163 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000423316 P29692 - 1 10 162_162 -114 648 not_retained Modified residue Note=Phosphoserine%3B by CK2;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:16807684,ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:17487921,ECO:0000244|PubMed:17693683,ECO:0000244|PubMed:18318008,ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:19367720,ECO:0000244|PubMed:19369195,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569,ECO:0000269|PubMed:21936567;Dbxref=PMID:16807684,PMID:17081983,PMID:17487921,PMID:17693683,PMID:18318008,PMID:18691976,PMID:19367720,PMID:19369195,PMID:19690332,PMID:20068231,PMID:21406692,PMID:23186163,PMID:24275569,PMID:21936567 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000423316 P29692 - 1 10 1_1 -114 648 not_retained Alternative sequence ID=VSP_037884;Note=In isoform 2. M->MRSGKASCTLETVWEDKHKYEEAERRFYEHEATQAAASAQQLPAEGPAMNGPGQDDPEDADEAEAPDGGSRRDPRKSQDSRKPLQKKRKRSPKSGLGPADLALLGLSAERVWLDKSLFDQAESSYRQKLADVAAQAAWPPALAPWGLCTHGNQVACHHVTWGIWVNKSSFDQAERAFVEWSQALLLAPDGSRRQGTPNTGQQVAVPDLAHQPSPPVNGQPPLGSLQALVREVWLEKPRYDAAERGFYEALFDGHPPGKVRLQERAGLAEGARRGRRDRRGRNILGNKRAGLRRADGEAPSALPYCYFLQKDAEAPWLSKPAYDSAECRHHAAEALRVAWCLEAASLSHRPGPRSGLSVSSLRPNRKM;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|Ref.3;Dbxref=PMID:15489334 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000423316 P29692 - 1 10 40_63 -114 648 not_retained Alternative sequence ID=VSP_043812;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000423316 P29692 - 1 10 78_96 -114 648 not_retained Alternative sequence ID=VSP_045960;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000423316 P29692 - 1 10 34_34 -114 648 not_retained Sequence conflict Note=A->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000423316 P29692 - 1 10 44_44 -114 648 not_retained Sequence conflict Note=S->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000423316 P29692 - 1 10 209_209 -114 648 not_retained Sequence conflict Note=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000423316 P29692 - 1 10 2_9 -114 648 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5JPO Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000423316 P29692 - 1 10 15_27 -114 648 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5JPO Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000423316 P29692 - 1 10 153_157 -114 648 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MVM Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000423316 P29692 - 1 10 159_161 -114 648 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MVM Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000423316 P29692 - 1 10 162_165 -114 648 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MVN Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000423316 P29692 - 1 10 169_185 -114 648 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MVM Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000423316 P29692 - 1 10 187_190 -114 648 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MVN Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000423316 P29692 - 1 10 195_206 -114 648 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N51 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000423316 P29692 - 1 10 211_219 -114 648 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N51 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000423316 P29692 - 1 10 226_235 -114 648 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N51 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000423316 P29692 - 1 10 237_239 -114 648 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N51 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000423316 P29692 - 1 10 241_250 -114 648 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N51 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000423316 P29692 - 1 10 251_253 -114 648 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N51 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000423316 P29692 - 1 10 256_265 -114 648 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N51 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000423316 P29692 - 1 10 266_268 -114 648 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N51 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000423316 P29692 - 1 10 270_280 -114 648 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N51 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000395119 P29692 - 1 8 1_1 -113 282 not_retained Alternative sequence ID=VSP_037884;Note=In isoform 2. M->MRSGKASCTLETVWEDKHKYEEAERRFYEHEATQAAASAQQLPAEGPAMNGPGQDDPEDADEAEAPDGGSRRDPRKSQDSRKPLQKKRKRSPKSGLGPADLALLGLSAERVWLDKSLFDQAESSYRQKLADVAAQAAWPPALAPWGLCTHGNQVACHHVTWGIWVNKSSFDQAERAFVEWSQALLLAPDGSRRQGTPNTGQQVAVPDLAHQPSPPVNGQPPLGSLQALVREVWLEKPRYDAAERGFYEALFDGHPPGKVRLQERAGLAEGARRGRRDRRGRNILGNKRAGLRRADGEAPSALPYCYFLQKDAEAPWLSKPAYDSAECRHHAAEALRVAWCLEAASLSHRPGPRSGLSVSSLRPNRKM;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|Ref.3;Dbxref=PMID:15489334 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000395119 P29692 - 1 8 2_281 -113 282 not_retained Chain ID=PRO_0000155046;Note=Elongation factor 1-delta Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000395119 P29692 - 1 8 80_115 -113 282 not_retained Region Note=Leucine-zipper Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000395119 P29692 - 1 8 173_281 -113 282 not_retained Region Note=Catalytic (GEF) Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000395119 P29692 - 1 8 2_2 -113 282 not_retained Modified residue Note=N-acetylalanine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:22223895,ECO:0000244|PubMed:25944712,ECO:0000269|Ref.9;Dbxref=PMID:22223895,PMID:25944712 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000395119 P29692 - 1 8 17_17 -113 282 not_retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000395119 P29692 - 1 8 37_37 -113 282 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000395119 P29692 - 1 8 44_44 -113 282 not_retained Sequence conflict Note=S->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000395119 P29692 - 1 8 60_60 -113 282 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:23186163,PMID:24275569 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000395119 P29692 - 1 8 73_73 -113 282 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000395119 P29692 - 1 8 86_86 -113 282 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000395119 P29692 - 1 8 106_106 -113 282 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q68FR9 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000395119 P29692 - 1 8 107_107 -113 282 not_retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000395119 P29692 - 1 8 117_117 -113 282 not_retained Modified residue Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P57776 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000395119 P29692 - 1 8 117_117 -113 282 not_retained Modified residue Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P57776 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000395119 P29692 - 1 8 119_119 -113 282 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000395119 P29692 - 1 8 129_129 -113 282 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:23186163,PMID:24275569 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000395119 P29692 - 1 8 133_133 -113 282 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:17487921,ECO:0000244|PubMed:17924679,ECO:0000244|PubMed:18220336,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:19369195,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:17081983,PMID:17487921,PMID:17924679,PMID:18220336,PMID:18669648,PMID:18691976,PMID:19369195,PMID:20068231,PMID:21406692,PMID:23186163,PMID:24275569 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000395119 P29692 - 1 8 147_147 -113 282 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:23186163;Dbxref=PMID:17081983,PMID:18691976,PMID:19690332,PMID:23186163 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000395119 P29692 - 1 8 162_162 -113 282 not_retained Modified residue Note=Phosphoserine%3B by CK2;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:16807684,ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:17487921,ECO:0000244|PubMed:17693683,ECO:0000244|PubMed:18318008,ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:19367720,ECO:0000244|PubMed:19369195,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569,ECO:0000269|PubMed:21936567;Dbxref=PMID:16807684,PMID:17081983,PMID:17487921,PMID:17693683,PMID:18318008,PMID:18691976,PMID:19367720,PMID:19369195,PMID:19690332,PMID:20068231,PMID:21406692,PMID:23186163,PMID:24275569,PMID:21936567 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000395119 P29692 - 1 8 1_1 -113 282 not_retained Alternative sequence ID=VSP_037884;Note=In isoform 2. M->MRSGKASCTLETVWEDKHKYEEAERRFYEHEATQAAASAQQLPAEGPAMNGPGQDDPEDADEAEAPDGGSRRDPRKSQDSRKPLQKKRKRSPKSGLGPADLALLGLSAERVWLDKSLFDQAESSYRQKLADVAAQAAWPPALAPWGLCTHGNQVACHHVTWGIWVNKSSFDQAERAFVEWSQALLLAPDGSRRQGTPNTGQQVAVPDLAHQPSPPVNGQPPLGSLQALVREVWLEKPRYDAAERGFYEALFDGHPPGKVRLQERAGLAEGARRGRRDRRGRNILGNKRAGLRRADGEAPSALPYCYFLQKDAEAPWLSKPAYDSAECRHHAAEALRVAWCLEAASLSHRPGPRSGLSVSSLRPNRKM;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|Ref.3;Dbxref=PMID:15489334 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000395119 P29692 - 1 8 40_63 -113 282 not_retained Alternative sequence ID=VSP_043812;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000395119 P29692 - 1 8 78_96 -113 282 not_retained Alternative sequence ID=VSP_045960;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000395119 P29692 - 1 8 34_34 -113 282 not_retained Sequence conflict Note=A->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000395119 P29692 - 1 8 44_44 -113 282 not_retained Sequence conflict Note=S->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000395119 P29692 - 1 8 209_209 -113 282 not_retained Sequence conflict Note=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000395119 P29692 - 1 8 2_9 -113 282 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5JPO Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000395119 P29692 - 1 8 15_27 -113 282 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5JPO Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000395119 P29692 - 1 8 153_157 -113 282 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MVM Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000395119 P29692 - 1 8 159_161 -113 282 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MVM Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000395119 P29692 - 1 8 162_165 -113 282 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MVN Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000395119 P29692 - 1 8 169_185 -113 282 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MVM Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000395119 P29692 - 1 8 187_190 -113 282 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MVN Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000395119 P29692 - 1 8 195_206 -113 282 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N51 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000395119 P29692 - 1 8 211_219 -113 282 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N51 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000395119 P29692 - 1 8 226_235 -113 282 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N51 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000395119 P29692 - 1 8 237_239 -113 282 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N51 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000395119 P29692 - 1 8 241_250 -113 282 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N51 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000395119 P29692 - 1 8 251_253 -113 282 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N51 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000395119 P29692 - 1 8 256_265 -113 282 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N51 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000395119 P29692 - 1 8 266_268 -113 282 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N51 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000395119 P29692 - 1 8 270_280 -113 282 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N51 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000529272 P29692 - 1 8 1_1 -134 282 not_retained Alternative sequence ID=VSP_037884;Note=In isoform 2. M->MRSGKASCTLETVWEDKHKYEEAERRFYEHEATQAAASAQQLPAEGPAMNGPGQDDPEDADEAEAPDGGSRRDPRKSQDSRKPLQKKRKRSPKSGLGPADLALLGLSAERVWLDKSLFDQAESSYRQKLADVAAQAAWPPALAPWGLCTHGNQVACHHVTWGIWVNKSSFDQAERAFVEWSQALLLAPDGSRRQGTPNTGQQVAVPDLAHQPSPPVNGQPPLGSLQALVREVWLEKPRYDAAERGFYEALFDGHPPGKVRLQERAGLAEGARRGRRDRRGRNILGNKRAGLRRADGEAPSALPYCYFLQKDAEAPWLSKPAYDSAECRHHAAEALRVAWCLEAASLSHRPGPRSGLSVSSLRPNRKM;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|Ref.3;Dbxref=PMID:15489334 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000529272 P29692 - 1 8 2_281 -134 282 not_retained Chain ID=PRO_0000155046;Note=Elongation factor 1-delta Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000529272 P29692 - 1 8 80_115 -134 282 not_retained Region Note=Leucine-zipper Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000529272 P29692 - 1 8 173_281 -134 282 not_retained Region Note=Catalytic (GEF) Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000529272 P29692 - 1 8 2_2 -134 282 not_retained Modified residue Note=N-acetylalanine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:22223895,ECO:0000244|PubMed:25944712,ECO:0000269|Ref.9;Dbxref=PMID:22223895,PMID:25944712 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000529272 P29692 - 1 8 17_17 -134 282 not_retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000529272 P29692 - 1 8 37_37 -134 282 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000529272 P29692 - 1 8 44_44 -134 282 not_retained Sequence conflict Note=S->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000529272 P29692 - 1 8 60_60 -134 282 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:23186163,PMID:24275569 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000529272 P29692 - 1 8 73_73 -134 282 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000529272 P29692 - 1 8 86_86 -134 282 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000529272 P29692 - 1 8 106_106 -134 282 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q68FR9 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000529272 P29692 - 1 8 107_107 -134 282 not_retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000529272 P29692 - 1 8 117_117 -134 282 not_retained Modified residue Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P57776 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000529272 P29692 - 1 8 117_117 -134 282 not_retained Modified residue Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P57776 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000529272 P29692 - 1 8 119_119 -134 282 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000529272 P29692 - 1 8 129_129 -134 282 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:23186163,PMID:24275569 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000529272 P29692 - 1 8 133_133 -134 282 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:17487921,ECO:0000244|PubMed:17924679,ECO:0000244|PubMed:18220336,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:19369195,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:17081983,PMID:17487921,PMID:17924679,PMID:18220336,PMID:18669648,PMID:18691976,PMID:19369195,PMID:20068231,PMID:21406692,PMID:23186163,PMID:24275569 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000529272 P29692 - 1 8 147_147 -134 282 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:23186163;Dbxref=PMID:17081983,PMID:18691976,PMID:19690332,PMID:23186163 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000529272 P29692 - 1 8 162_162 -134 282 not_retained Modified residue Note=Phosphoserine%3B by CK2;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:16807684,ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:17487921,ECO:0000244|PubMed:17693683,ECO:0000244|PubMed:18318008,ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:19367720,ECO:0000244|PubMed:19369195,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569,ECO:0000269|PubMed:21936567;Dbxref=PMID:16807684,PMID:17081983,PMID:17487921,PMID:17693683,PMID:18318008,PMID:18691976,PMID:19367720,PMID:19369195,PMID:19690332,PMID:20068231,PMID:21406692,PMID:23186163,PMID:24275569,PMID:21936567 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000529272 P29692 - 1 8 1_1 -134 282 not_retained Alternative sequence ID=VSP_037884;Note=In isoform 2. M->MRSGKASCTLETVWEDKHKYEEAERRFYEHEATQAAASAQQLPAEGPAMNGPGQDDPEDADEAEAPDGGSRRDPRKSQDSRKPLQKKRKRSPKSGLGPADLALLGLSAERVWLDKSLFDQAESSYRQKLADVAAQAAWPPALAPWGLCTHGNQVACHHVTWGIWVNKSSFDQAERAFVEWSQALLLAPDGSRRQGTPNTGQQVAVPDLAHQPSPPVNGQPPLGSLQALVREVWLEKPRYDAAERGFYEALFDGHPPGKVRLQERAGLAEGARRGRRDRRGRNILGNKRAGLRRADGEAPSALPYCYFLQKDAEAPWLSKPAYDSAECRHHAAEALRVAWCLEAASLSHRPGPRSGLSVSSLRPNRKM;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|Ref.3;Dbxref=PMID:15489334 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000529272 P29692 - 1 8 40_63 -134 282 not_retained Alternative sequence ID=VSP_043812;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000529272 P29692 - 1 8 78_96 -134 282 not_retained Alternative sequence ID=VSP_045960;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000529272 P29692 - 1 8 34_34 -134 282 not_retained Sequence conflict Note=A->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000529272 P29692 - 1 8 44_44 -134 282 not_retained Sequence conflict Note=S->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000529272 P29692 - 1 8 209_209 -134 282 not_retained Sequence conflict Note=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000529272 P29692 - 1 8 2_9 -134 282 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5JPO Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000529272 P29692 - 1 8 15_27 -134 282 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5JPO Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000529272 P29692 - 1 8 153_157 -134 282 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MVM Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000529272 P29692 - 1 8 159_161 -134 282 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MVM Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000529272 P29692 - 1 8 162_165 -134 282 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MVN Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000529272 P29692 - 1 8 169_185 -134 282 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MVM Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000529272 P29692 - 1 8 187_190 -134 282 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MVN Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000529272 P29692 - 1 8 195_206 -134 282 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N51 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000529272 P29692 - 1 8 211_219 -134 282 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N51 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000529272 P29692 - 1 8 226_235 -134 282 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N51 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000529272 P29692 - 1 8 237_239 -134 282 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N51 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000529272 P29692 - 1 8 241_250 -134 282 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N51 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000529272 P29692 - 1 8 251_253 -134 282 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N51 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000529272 P29692 - 1 8 256_265 -134 282 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N51 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000529272 P29692 - 1 8 266_268 -134 282 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N51 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000529272 P29692 - 1 8 270_280 -134 282 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N51 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000524624 P29692 - 1 8 1_1 -85 258 not_retained Alternative sequence ID=VSP_037884;Note=In isoform 2. M->MRSGKASCTLETVWEDKHKYEEAERRFYEHEATQAAASAQQLPAEGPAMNGPGQDDPEDADEAEAPDGGSRRDPRKSQDSRKPLQKKRKRSPKSGLGPADLALLGLSAERVWLDKSLFDQAESSYRQKLADVAAQAAWPPALAPWGLCTHGNQVACHHVTWGIWVNKSSFDQAERAFVEWSQALLLAPDGSRRQGTPNTGQQVAVPDLAHQPSPPVNGQPPLGSLQALVREVWLEKPRYDAAERGFYEALFDGHPPGKVRLQERAGLAEGARRGRRDRRGRNILGNKRAGLRRADGEAPSALPYCYFLQKDAEAPWLSKPAYDSAECRHHAAEALRVAWCLEAASLSHRPGPRSGLSVSSLRPNRKM;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|Ref.3;Dbxref=PMID:15489334 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000524624 P29692 - 1 8 2_281 -85 258 not_retained Chain ID=PRO_0000155046;Note=Elongation factor 1-delta Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000524624 P29692 - 1 8 80_115 -85 258 not_retained Region Note=Leucine-zipper Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000524624 P29692 - 1 8 173_281 -85 258 not_retained Region Note=Catalytic (GEF) Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000524624 P29692 - 1 8 2_2 -85 258 not_retained Modified residue Note=N-acetylalanine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:22223895,ECO:0000244|PubMed:25944712,ECO:0000269|Ref.9;Dbxref=PMID:22223895,PMID:25944712 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000524624 P29692 - 1 8 17_17 -85 258 not_retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000524624 P29692 - 1 8 37_37 -85 258 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000524624 P29692 - 1 8 44_44 -85 258 not_retained Sequence conflict Note=S->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000524624 P29692 - 1 8 60_60 -85 258 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:23186163,PMID:24275569 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000524624 P29692 - 1 8 73_73 -85 258 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000524624 P29692 - 1 8 86_86 -85 258 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000524624 P29692 - 1 8 106_106 -85 258 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q68FR9 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000524624 P29692 - 1 8 107_107 -85 258 not_retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000524624 P29692 - 1 8 117_117 -85 258 not_retained Modified residue Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P57776 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000524624 P29692 - 1 8 117_117 -85 258 not_retained Modified residue Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P57776 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000524624 P29692 - 1 8 119_119 -85 258 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000524624 P29692 - 1 8 129_129 -85 258 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:23186163,PMID:24275569 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000524624 P29692 - 1 8 133_133 -85 258 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:17487921,ECO:0000244|PubMed:17924679,ECO:0000244|PubMed:18220336,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:19369195,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:17081983,PMID:17487921,PMID:17924679,PMID:18220336,PMID:18669648,PMID:18691976,PMID:19369195,PMID:20068231,PMID:21406692,PMID:23186163,PMID:24275569 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000524624 P29692 - 1 8 147_147 -85 258 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:23186163;Dbxref=PMID:17081983,PMID:18691976,PMID:19690332,PMID:23186163 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000524624 P29692 - 1 8 162_162 -85 258 not_retained Modified residue Note=Phosphoserine%3B by CK2;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:16807684,ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:17487921,ECO:0000244|PubMed:17693683,ECO:0000244|PubMed:18318008,ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:19367720,ECO:0000244|PubMed:19369195,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569,ECO:0000269|PubMed:21936567;Dbxref=PMID:16807684,PMID:17081983,PMID:17487921,PMID:17693683,PMID:18318008,PMID:18691976,PMID:19367720,PMID:19369195,PMID:19690332,PMID:20068231,PMID:21406692,PMID:23186163,PMID:24275569,PMID:21936567 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000524624 P29692 - 1 8 1_1 -85 258 not_retained Alternative sequence ID=VSP_037884;Note=In isoform 2. M->MRSGKASCTLETVWEDKHKYEEAERRFYEHEATQAAASAQQLPAEGPAMNGPGQDDPEDADEAEAPDGGSRRDPRKSQDSRKPLQKKRKRSPKSGLGPADLALLGLSAERVWLDKSLFDQAESSYRQKLADVAAQAAWPPALAPWGLCTHGNQVACHHVTWGIWVNKSSFDQAERAFVEWSQALLLAPDGSRRQGTPNTGQQVAVPDLAHQPSPPVNGQPPLGSLQALVREVWLEKPRYDAAERGFYEALFDGHPPGKVRLQERAGLAEGARRGRRDRRGRNILGNKRAGLRRADGEAPSALPYCYFLQKDAEAPWLSKPAYDSAECRHHAAEALRVAWCLEAASLSHRPGPRSGLSVSSLRPNRKM;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|Ref.3;Dbxref=PMID:15489334 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000524624 P29692 - 1 8 40_63 -85 258 not_retained Alternative sequence ID=VSP_043812;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000524624 P29692 - 1 8 78_96 -85 258 not_retained Alternative sequence ID=VSP_045960;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000524624 P29692 - 1 8 34_34 -85 258 not_retained Sequence conflict Note=A->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000524624 P29692 - 1 8 44_44 -85 258 not_retained Sequence conflict Note=S->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000524624 P29692 - 1 8 209_209 -85 258 not_retained Sequence conflict Note=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000524624 P29692 - 1 8 2_9 -85 258 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5JPO Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000524624 P29692 - 1 8 15_27 -85 258 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5JPO Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000524624 P29692 - 1 8 153_157 -85 258 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MVM Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000524624 P29692 - 1 8 159_161 -85 258 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MVM Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000524624 P29692 - 1 8 162_165 -85 258 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MVN Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000524624 P29692 - 1 8 169_185 -85 258 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MVM Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000524624 P29692 - 1 8 187_190 -85 258 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MVN Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000524624 P29692 - 1 8 195_206 -85 258 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N51 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000524624 P29692 - 1 8 211_219 -85 258 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N51 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000524624 P29692 - 1 8 226_235 -85 258 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N51 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000524624 P29692 - 1 8 237_239 -85 258 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N51 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000524624 P29692 - 1 8 241_250 -85 258 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N51 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000524624 P29692 - 1 8 251_253 -85 258 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N51 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000524624 P29692 - 1 8 256_265 -85 258 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N51 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000524624 P29692 - 1 8 266_268 -85 258 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N51 Hgene intron-intron BF513928 ChiTaRS EEF1D chr8:144679549 EEF1D chr8:144672080 ENST00000524624 P29692 - 1 8 270_280 -85 258 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N51 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 1 7 1_1192 -110 200 not_retained Chain ID=PRO_0000168165;Note=Reticulon-4 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 1 7 1_1018 -110 200 not_retained Topological domain Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 1 7 1019_1039 -110 200 not_retained Transmembrane Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 1 7 1040_1133 -110 200 not_retained Topological domain Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 1 7 1134_1154 -110 200 not_retained Transmembrane Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 1 7 1155_1192 -110 200 not_retained Topological domain Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 1 7 1005_1192 -110 200 not_retained Domain Note=Reticulon;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00170 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 1 7 30_47 -110 200 not_retained Compositional bias Note=Poly-Glu Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 1 7 143_148 -110 200 not_retained Compositional bias Note=Poly-Pro Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 1 7 1_1 -110 200 not_retained Modified residue Note=N-acetylmethionine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:19369195,ECO:0000244|PubMed:19413330,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:22223895,ECO:0000244|PubMed:22814378,ECO:0000244|PubMed:25944712,ECO:0000269|Ref.16;Dbxref=PMID:19369195,PMID:19413330,PMID:20068231,PMID:21406692,PMID:22223895,PMID:22814378,PMID:25944712 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 1 7 7_7 -110 200 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:17081983,PMID:20068231,PMID:23186163 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 1 7 15_15 -110 200 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163,ECO:0000269|Ref.16;Dbxref=PMID:20068231,PMID:21406692,PMID:23186163 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 1 7 107_107 -110 200 not_retained Sequence conflict Note=S->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 1 7 152_152 -110 200 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 1 7 181_181 -110 200 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 1 7 182_182 -110 200 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 1 7 184_184 -110 200 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 1 7 361_361 -110 200 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 1 7 446_446 -110 200 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9JK11 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 1 7 450_450 -110 200 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9JK11 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 1 7 511_511 -110 200 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 1 7 749_749 -110 200 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 1 7 858_858 -110 200 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9JK11 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 1 7 881_881 -110 200 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 1 7 991_991 -110 200 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 1 7 1104_1104 -110 200 not_retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 1 7 1_993 -110 200 not_retained Alternative sequence ID=VSP_005652;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10667780,ECO:0000303|PubMed:10773680,ECO:0000303|PubMed:11042152,ECO:0000303|PubMed:12488097,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:15498874,ECO:0000303|Ref.7,ECO:0000303|Ref.8;Dbxref=PMID:10667780,PMID:10773680,PMID:11042152,PMID:12488097,PMID:15489334,PMID:15498874 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 1 7 1_206 -110 200 not_retained Alternative sequence ID=VSP_037112;Note=In isoform 6. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11866689,ECO:0000303|PubMed:12488097;Dbxref=PMID:11866689,PMID:12488097 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 1 7 58_289 -110 200 not_retained Alternative sequence ID=VSP_005654;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.9 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 1 7 186_1004 -110 200 not_retained Alternative sequence ID=VSP_005655;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10667780,ECO:0000303|PubMed:10773680,ECO:0000303|PubMed:11126360,ECO:0000303|PubMed:12488097,ECO:0000303|PubMed:15489334,ECO:0000303|Ref.6,ECO:0000303|Ref.8;Dbxref=PMID:10667780,PMID:10773680,PMID:11126360,PMID:12488097,PMID:15489334 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 1 7 205_1004 -110 200 not_retained Alternative sequence ID=VSP_037113;Note=In isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:12488097,ECO:0000303|PubMed:15489334;Dbxref=PMID:12488097,PMID:15489334 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 1 7 994_1004 -110 200 not_retained Alternative sequence ID=VSP_005653;Note=In isoform 3. AIFSAELSKTS->MDGQKKNWKDK;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10667780,ECO:0000303|PubMed:10773680,ECO:0000303|PubMed:11042152,ECO:0000303|PubMed:12488097,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:15498874,ECO:0000303|Ref.7,ECO:0000303|Ref.8;Dbxref=PMID:10667780,PMID:10773680,PMID:11042152,PMID:12488097,PMID:15489334,PMID:15498874 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 1 7 357_357 -110 200 not_retained Natural variant ID=VAR_053633;Note=D->V;Dbxref=dbSNP:rs11677099 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 1 7 429_429 -110 200 not_retained Natural variant ID=VAR_035904;Note=In a colorectal cancer sample%3B somatic mutation. L->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16959974;Dbxref=PMID:16959974 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 1 7 899_899 -110 200 not_retained Natural variant ID=VAR_053634;Note=E->Q;Dbxref=dbSNP:rs6757519 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 1 7 920_920 -110 200 not_retained Natural variant ID=VAR_053635;Note=S->C;Dbxref=dbSNP:rs6757705 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 1 7 107_107 -110 200 not_retained Sequence conflict Note=S->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 1 7 135_135 -110 200 not_retained Sequence conflict Note=E->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 1 7 458_458 -110 200 not_retained Sequence conflict Note=S->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 1 7 564_564 -110 200 not_retained Sequence conflict Note=N->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 1 7 1059_1062 -110 200 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G31 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 1 7 1063_1070 -110 200 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G31 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 1 7 1074_1094 -110 200 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G31 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 1 7 1095_1097 -110 200 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G31 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 1 7 1100_1107 -110 200 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G31 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 1 9 1_1192 -45 987 not_retained Chain ID=PRO_0000168165;Note=Reticulon-4 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 1 9 1_1018 -45 987 not_retained Topological domain Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 1 9 1019_1039 -45 987 not_retained Transmembrane Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 1 9 1040_1133 -45 987 not_retained Topological domain Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 1 9 1134_1154 -45 987 not_retained Transmembrane Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 1 9 1155_1192 -45 987 not_retained Topological domain Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 1 9 1005_1192 -45 987 not_retained Domain Note=Reticulon;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00170 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 1 9 30_47 -45 987 not_retained Compositional bias Note=Poly-Glu Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 1 9 143_148 -45 987 not_retained Compositional bias Note=Poly-Pro Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 1 9 1_1 -45 987 not_retained Modified residue Note=N-acetylmethionine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:19369195,ECO:0000244|PubMed:19413330,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:22223895,ECO:0000244|PubMed:22814378,ECO:0000244|PubMed:25944712,ECO:0000269|Ref.16;Dbxref=PMID:19369195,PMID:19413330,PMID:20068231,PMID:21406692,PMID:22223895,PMID:22814378,PMID:25944712 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 1 9 7_7 -45 987 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:17081983,PMID:20068231,PMID:23186163 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 1 9 15_15 -45 987 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163,ECO:0000269|Ref.16;Dbxref=PMID:20068231,PMID:21406692,PMID:23186163 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 1 9 107_107 -45 987 not_retained Sequence conflict Note=S->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 1 9 152_152 -45 987 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 1 9 181_181 -45 987 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 1 9 182_182 -45 987 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 1 9 184_184 -45 987 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 1 9 361_361 -45 987 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 1 9 446_446 -45 987 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9JK11 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 1 9 450_450 -45 987 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9JK11 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 1 9 511_511 -45 987 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 1 9 749_749 -45 987 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 1 9 858_858 -45 987 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9JK11 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 1 9 881_881 -45 987 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 1 9 991_991 -45 987 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 1 9 1104_1104 -45 987 not_retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 1 9 1_993 -45 987 not_retained Alternative sequence ID=VSP_005652;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10667780,ECO:0000303|PubMed:10773680,ECO:0000303|PubMed:11042152,ECO:0000303|PubMed:12488097,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:15498874,ECO:0000303|Ref.7,ECO:0000303|Ref.8;Dbxref=PMID:10667780,PMID:10773680,PMID:11042152,PMID:12488097,PMID:15489334,PMID:15498874 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 1 9 1_206 -45 987 not_retained Alternative sequence ID=VSP_037112;Note=In isoform 6. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11866689,ECO:0000303|PubMed:12488097;Dbxref=PMID:11866689,PMID:12488097 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 1 9 58_289 -45 987 not_retained Alternative sequence ID=VSP_005654;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.9 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 1 9 186_1004 -45 987 not_retained Alternative sequence ID=VSP_005655;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10667780,ECO:0000303|PubMed:10773680,ECO:0000303|PubMed:11126360,ECO:0000303|PubMed:12488097,ECO:0000303|PubMed:15489334,ECO:0000303|Ref.6,ECO:0000303|Ref.8;Dbxref=PMID:10667780,PMID:10773680,PMID:11126360,PMID:12488097,PMID:15489334 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 1 9 205_1004 -45 987 not_retained Alternative sequence ID=VSP_037113;Note=In isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:12488097,ECO:0000303|PubMed:15489334;Dbxref=PMID:12488097,PMID:15489334 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 1 9 994_1004 -45 987 not_retained Alternative sequence ID=VSP_005653;Note=In isoform 3. AIFSAELSKTS->MDGQKKNWKDK;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10667780,ECO:0000303|PubMed:10773680,ECO:0000303|PubMed:11042152,ECO:0000303|PubMed:12488097,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:15498874,ECO:0000303|Ref.7,ECO:0000303|Ref.8;Dbxref=PMID:10667780,PMID:10773680,PMID:11042152,PMID:12488097,PMID:15489334,PMID:15498874 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 1 9 357_357 -45 987 not_retained Natural variant ID=VAR_053633;Note=D->V;Dbxref=dbSNP:rs11677099 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 1 9 429_429 -45 987 not_retained Natural variant ID=VAR_035904;Note=In a colorectal cancer sample%3B somatic mutation. L->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16959974;Dbxref=PMID:16959974 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 1 9 899_899 -45 987 not_retained Natural variant ID=VAR_053634;Note=E->Q;Dbxref=dbSNP:rs6757519 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 1 9 920_920 -45 987 not_retained Natural variant ID=VAR_053635;Note=S->C;Dbxref=dbSNP:rs6757705 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 1 9 107_107 -45 987 not_retained Sequence conflict Note=S->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 1 9 135_135 -45 987 not_retained Sequence conflict Note=E->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 1 9 458_458 -45 987 not_retained Sequence conflict Note=S->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 1 9 564_564 -45 987 not_retained Sequence conflict Note=N->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 1 9 1059_1062 -45 987 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G31 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 1 9 1063_1070 -45 987 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G31 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 1 9 1074_1094 -45 987 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G31 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 1 9 1095_1097 -45 987 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G31 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 1 9 1100_1107 -45 987 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G31 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 1 9 1_1192 -61 987 not_retained Chain ID=PRO_0000168165;Note=Reticulon-4 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 1 9 1_1018 -61 987 not_retained Topological domain Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 1 9 1019_1039 -61 987 not_retained Transmembrane Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 1 9 1040_1133 -61 987 not_retained Topological domain Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 1 9 1134_1154 -61 987 not_retained Transmembrane Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 1 9 1155_1192 -61 987 not_retained Topological domain Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 1 9 1005_1192 -61 987 not_retained Domain Note=Reticulon;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00170 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 1 9 30_47 -61 987 not_retained Compositional bias Note=Poly-Glu Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 1 9 143_148 -61 987 not_retained Compositional bias Note=Poly-Pro Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 1 9 1_1 -61 987 not_retained Modified residue Note=N-acetylmethionine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:19369195,ECO:0000244|PubMed:19413330,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:22223895,ECO:0000244|PubMed:22814378,ECO:0000244|PubMed:25944712,ECO:0000269|Ref.16;Dbxref=PMID:19369195,PMID:19413330,PMID:20068231,PMID:21406692,PMID:22223895,PMID:22814378,PMID:25944712 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 1 9 7_7 -61 987 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:17081983,PMID:20068231,PMID:23186163 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 1 9 15_15 -61 987 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163,ECO:0000269|Ref.16;Dbxref=PMID:20068231,PMID:21406692,PMID:23186163 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 1 9 107_107 -61 987 not_retained Sequence conflict Note=S->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 1 9 152_152 -61 987 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 1 9 181_181 -61 987 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 1 9 182_182 -61 987 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 1 9 184_184 -61 987 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 1 9 361_361 -61 987 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 1 9 446_446 -61 987 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9JK11 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 1 9 450_450 -61 987 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9JK11 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 1 9 511_511 -61 987 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 1 9 749_749 -61 987 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 1 9 858_858 -61 987 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9JK11 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 1 9 881_881 -61 987 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 1 9 991_991 -61 987 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 1 9 1104_1104 -61 987 not_retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 1 9 1_993 -61 987 not_retained Alternative sequence ID=VSP_005652;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10667780,ECO:0000303|PubMed:10773680,ECO:0000303|PubMed:11042152,ECO:0000303|PubMed:12488097,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:15498874,ECO:0000303|Ref.7,ECO:0000303|Ref.8;Dbxref=PMID:10667780,PMID:10773680,PMID:11042152,PMID:12488097,PMID:15489334,PMID:15498874 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 1 9 1_206 -61 987 not_retained Alternative sequence ID=VSP_037112;Note=In isoform 6. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11866689,ECO:0000303|PubMed:12488097;Dbxref=PMID:11866689,PMID:12488097 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 1 9 58_289 -61 987 not_retained Alternative sequence ID=VSP_005654;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.9 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 1 9 186_1004 -61 987 not_retained Alternative sequence ID=VSP_005655;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10667780,ECO:0000303|PubMed:10773680,ECO:0000303|PubMed:11126360,ECO:0000303|PubMed:12488097,ECO:0000303|PubMed:15489334,ECO:0000303|Ref.6,ECO:0000303|Ref.8;Dbxref=PMID:10667780,PMID:10773680,PMID:11126360,PMID:12488097,PMID:15489334 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 1 9 205_1004 -61 987 not_retained Alternative sequence ID=VSP_037113;Note=In isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:12488097,ECO:0000303|PubMed:15489334;Dbxref=PMID:12488097,PMID:15489334 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 1 9 994_1004 -61 987 not_retained Alternative sequence ID=VSP_005653;Note=In isoform 3. AIFSAELSKTS->MDGQKKNWKDK;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10667780,ECO:0000303|PubMed:10773680,ECO:0000303|PubMed:11042152,ECO:0000303|PubMed:12488097,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:15498874,ECO:0000303|Ref.7,ECO:0000303|Ref.8;Dbxref=PMID:10667780,PMID:10773680,PMID:11042152,PMID:12488097,PMID:15489334,PMID:15498874 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 1 9 357_357 -61 987 not_retained Natural variant ID=VAR_053633;Note=D->V;Dbxref=dbSNP:rs11677099 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 1 9 429_429 -61 987 not_retained Natural variant ID=VAR_035904;Note=In a colorectal cancer sample%3B somatic mutation. L->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16959974;Dbxref=PMID:16959974 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 1 9 899_899 -61 987 not_retained Natural variant ID=VAR_053634;Note=E->Q;Dbxref=dbSNP:rs6757519 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 1 9 920_920 -61 987 not_retained Natural variant ID=VAR_053635;Note=S->C;Dbxref=dbSNP:rs6757705 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 1 9 107_107 -61 987 not_retained Sequence conflict Note=S->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 1 9 135_135 -61 987 not_retained Sequence conflict Note=E->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 1 9 458_458 -61 987 not_retained Sequence conflict Note=S->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 1 9 564_564 -61 987 not_retained Sequence conflict Note=N->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 1 9 1059_1062 -61 987 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G31 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 1 9 1063_1070 -61 987 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G31 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 1 9 1074_1094 -61 987 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G31 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 1 9 1095_1097 -61 987 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G31 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 1 9 1100_1107 -61 987 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G31 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 1 7 1_1192 -82 374 not_retained Chain ID=PRO_0000168165;Note=Reticulon-4 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 1 7 1_1018 -82 374 not_retained Topological domain Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 1 7 1019_1039 -82 374 not_retained Transmembrane Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 1 7 1040_1133 -82 374 not_retained Topological domain Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 1 7 1134_1154 -82 374 not_retained Transmembrane Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 1 7 1155_1192 -82 374 not_retained Topological domain Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 1 7 1005_1192 -82 374 not_retained Domain Note=Reticulon;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00170 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 1 7 30_47 -82 374 not_retained Compositional bias Note=Poly-Glu Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 1 7 143_148 -82 374 not_retained Compositional bias Note=Poly-Pro Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 1 7 1_1 -82 374 not_retained Modified residue Note=N-acetylmethionine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:19369195,ECO:0000244|PubMed:19413330,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:22223895,ECO:0000244|PubMed:22814378,ECO:0000244|PubMed:25944712,ECO:0000269|Ref.16;Dbxref=PMID:19369195,PMID:19413330,PMID:20068231,PMID:21406692,PMID:22223895,PMID:22814378,PMID:25944712 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 1 7 7_7 -82 374 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:17081983,PMID:20068231,PMID:23186163 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 1 7 15_15 -82 374 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163,ECO:0000269|Ref.16;Dbxref=PMID:20068231,PMID:21406692,PMID:23186163 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 1 7 107_107 -82 374 not_retained Sequence conflict Note=S->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 1 7 152_152 -82 374 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 1 7 181_181 -82 374 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 1 7 182_182 -82 374 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 1 7 184_184 -82 374 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 1 7 361_361 -82 374 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 1 7 446_446 -82 374 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9JK11 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 1 7 450_450 -82 374 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9JK11 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 1 7 511_511 -82 374 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 1 7 749_749 -82 374 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 1 7 858_858 -82 374 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9JK11 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 1 7 881_881 -82 374 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 1 7 991_991 -82 374 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 1 7 1104_1104 -82 374 not_retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 1 7 1_993 -82 374 not_retained Alternative sequence ID=VSP_005652;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10667780,ECO:0000303|PubMed:10773680,ECO:0000303|PubMed:11042152,ECO:0000303|PubMed:12488097,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:15498874,ECO:0000303|Ref.7,ECO:0000303|Ref.8;Dbxref=PMID:10667780,PMID:10773680,PMID:11042152,PMID:12488097,PMID:15489334,PMID:15498874 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 1 7 1_206 -82 374 not_retained Alternative sequence ID=VSP_037112;Note=In isoform 6. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11866689,ECO:0000303|PubMed:12488097;Dbxref=PMID:11866689,PMID:12488097 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 1 7 58_289 -82 374 not_retained Alternative sequence ID=VSP_005654;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.9 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 1 7 186_1004 -82 374 not_retained Alternative sequence ID=VSP_005655;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10667780,ECO:0000303|PubMed:10773680,ECO:0000303|PubMed:11126360,ECO:0000303|PubMed:12488097,ECO:0000303|PubMed:15489334,ECO:0000303|Ref.6,ECO:0000303|Ref.8;Dbxref=PMID:10667780,PMID:10773680,PMID:11126360,PMID:12488097,PMID:15489334 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 1 7 205_1004 -82 374 not_retained Alternative sequence ID=VSP_037113;Note=In isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:12488097,ECO:0000303|PubMed:15489334;Dbxref=PMID:12488097,PMID:15489334 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 1 7 994_1004 -82 374 not_retained Alternative sequence ID=VSP_005653;Note=In isoform 3. AIFSAELSKTS->MDGQKKNWKDK;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10667780,ECO:0000303|PubMed:10773680,ECO:0000303|PubMed:11042152,ECO:0000303|PubMed:12488097,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:15498874,ECO:0000303|Ref.7,ECO:0000303|Ref.8;Dbxref=PMID:10667780,PMID:10773680,PMID:11042152,PMID:12488097,PMID:15489334,PMID:15498874 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 1 7 357_357 -82 374 not_retained Natural variant ID=VAR_053633;Note=D->V;Dbxref=dbSNP:rs11677099 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 1 7 429_429 -82 374 not_retained Natural variant ID=VAR_035904;Note=In a colorectal cancer sample%3B somatic mutation. L->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16959974;Dbxref=PMID:16959974 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 1 7 899_899 -82 374 not_retained Natural variant ID=VAR_053634;Note=E->Q;Dbxref=dbSNP:rs6757519 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 1 7 920_920 -82 374 not_retained Natural variant ID=VAR_053635;Note=S->C;Dbxref=dbSNP:rs6757705 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 1 7 107_107 -82 374 not_retained Sequence conflict Note=S->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 1 7 135_135 -82 374 not_retained Sequence conflict Note=E->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 1 7 458_458 -82 374 not_retained Sequence conflict Note=S->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 1 7 564_564 -82 374 not_retained Sequence conflict Note=N->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 1 7 1059_1062 -82 374 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G31 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 1 7 1063_1070 -82 374 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G31 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 1 7 1074_1094 -82 374 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G31 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 1 7 1095_1097 -82 374 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G31 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 1 7 1100_1107 -82 374 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G31 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 1 8 1_1192 -82 393 not_retained Chain ID=PRO_0000168165;Note=Reticulon-4 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 1 8 1_1018 -82 393 not_retained Topological domain Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 1 8 1019_1039 -82 393 not_retained Transmembrane Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 1 8 1040_1133 -82 393 not_retained Topological domain Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 1 8 1134_1154 -82 393 not_retained Transmembrane Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 1 8 1155_1192 -82 393 not_retained Topological domain Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 1 8 1005_1192 -82 393 not_retained Domain Note=Reticulon;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00170 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 1 8 30_47 -82 393 not_retained Compositional bias Note=Poly-Glu Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 1 8 143_148 -82 393 not_retained Compositional bias Note=Poly-Pro Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 1 8 1_1 -82 393 not_retained Modified residue Note=N-acetylmethionine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:19369195,ECO:0000244|PubMed:19413330,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:22223895,ECO:0000244|PubMed:22814378,ECO:0000244|PubMed:25944712,ECO:0000269|Ref.16;Dbxref=PMID:19369195,PMID:19413330,PMID:20068231,PMID:21406692,PMID:22223895,PMID:22814378,PMID:25944712 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 1 8 7_7 -82 393 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:17081983,PMID:20068231,PMID:23186163 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 1 8 15_15 -82 393 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163,ECO:0000269|Ref.16;Dbxref=PMID:20068231,PMID:21406692,PMID:23186163 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 1 8 107_107 -82 393 not_retained Sequence conflict Note=S->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 1 8 152_152 -82 393 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 1 8 181_181 -82 393 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 1 8 182_182 -82 393 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 1 8 184_184 -82 393 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 1 8 361_361 -82 393 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 1 8 446_446 -82 393 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9JK11 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 1 8 450_450 -82 393 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9JK11 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 1 8 511_511 -82 393 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 1 8 749_749 -82 393 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 1 8 858_858 -82 393 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9JK11 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 1 8 881_881 -82 393 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 1 8 991_991 -82 393 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 1 8 1104_1104 -82 393 not_retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 1 8 1_993 -82 393 not_retained Alternative sequence ID=VSP_005652;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10667780,ECO:0000303|PubMed:10773680,ECO:0000303|PubMed:11042152,ECO:0000303|PubMed:12488097,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:15498874,ECO:0000303|Ref.7,ECO:0000303|Ref.8;Dbxref=PMID:10667780,PMID:10773680,PMID:11042152,PMID:12488097,PMID:15489334,PMID:15498874 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 1 8 1_206 -82 393 not_retained Alternative sequence ID=VSP_037112;Note=In isoform 6. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11866689,ECO:0000303|PubMed:12488097;Dbxref=PMID:11866689,PMID:12488097 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 1 8 58_289 -82 393 not_retained Alternative sequence ID=VSP_005654;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.9 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 1 8 186_1004 -82 393 not_retained Alternative sequence ID=VSP_005655;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10667780,ECO:0000303|PubMed:10773680,ECO:0000303|PubMed:11126360,ECO:0000303|PubMed:12488097,ECO:0000303|PubMed:15489334,ECO:0000303|Ref.6,ECO:0000303|Ref.8;Dbxref=PMID:10667780,PMID:10773680,PMID:11126360,PMID:12488097,PMID:15489334 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 1 8 205_1004 -82 393 not_retained Alternative sequence ID=VSP_037113;Note=In isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:12488097,ECO:0000303|PubMed:15489334;Dbxref=PMID:12488097,PMID:15489334 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 1 8 994_1004 -82 393 not_retained Alternative sequence ID=VSP_005653;Note=In isoform 3. AIFSAELSKTS->MDGQKKNWKDK;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10667780,ECO:0000303|PubMed:10773680,ECO:0000303|PubMed:11042152,ECO:0000303|PubMed:12488097,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:15498874,ECO:0000303|Ref.7,ECO:0000303|Ref.8;Dbxref=PMID:10667780,PMID:10773680,PMID:11042152,PMID:12488097,PMID:15489334,PMID:15498874 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 1 8 357_357 -82 393 not_retained Natural variant ID=VAR_053633;Note=D->V;Dbxref=dbSNP:rs11677099 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 1 8 429_429 -82 393 not_retained Natural variant ID=VAR_035904;Note=In a colorectal cancer sample%3B somatic mutation. L->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16959974;Dbxref=PMID:16959974 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 1 8 899_899 -82 393 not_retained Natural variant ID=VAR_053634;Note=E->Q;Dbxref=dbSNP:rs6757519 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 1 8 920_920 -82 393 not_retained Natural variant ID=VAR_053635;Note=S->C;Dbxref=dbSNP:rs6757705 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 1 8 107_107 -82 393 not_retained Sequence conflict Note=S->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 1 8 135_135 -82 393 not_retained Sequence conflict Note=E->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 1 8 458_458 -82 393 not_retained Sequence conflict Note=S->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 1 8 564_564 -82 393 not_retained Sequence conflict Note=N->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 1 8 1059_1062 -82 393 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G31 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 1 8 1063_1070 -82 393 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G31 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 1 8 1074_1094 -82 393 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G31 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 1 8 1095_1097 -82 393 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G31 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 1 8 1100_1107 -82 393 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G31 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 1 9 1_1192 -82 1193 not_retained Chain ID=PRO_0000168165;Note=Reticulon-4 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 1 9 1_1018 -82 1193 not_retained Topological domain Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 1 9 1019_1039 -82 1193 not_retained Transmembrane Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 1 9 1040_1133 -82 1193 not_retained Topological domain Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 1 9 1134_1154 -82 1193 not_retained Transmembrane Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 1 9 1155_1192 -82 1193 not_retained Topological domain Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 1 9 1005_1192 -82 1193 not_retained Domain Note=Reticulon;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00170 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 1 9 30_47 -82 1193 not_retained Compositional bias Note=Poly-Glu Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 1 9 143_148 -82 1193 not_retained Compositional bias Note=Poly-Pro Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 1 9 1_1 -82 1193 not_retained Modified residue Note=N-acetylmethionine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:19369195,ECO:0000244|PubMed:19413330,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:22223895,ECO:0000244|PubMed:22814378,ECO:0000244|PubMed:25944712,ECO:0000269|Ref.16;Dbxref=PMID:19369195,PMID:19413330,PMID:20068231,PMID:21406692,PMID:22223895,PMID:22814378,PMID:25944712 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 1 9 7_7 -82 1193 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:17081983,PMID:20068231,PMID:23186163 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 1 9 15_15 -82 1193 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163,ECO:0000269|Ref.16;Dbxref=PMID:20068231,PMID:21406692,PMID:23186163 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 1 9 107_107 -82 1193 not_retained Sequence conflict Note=S->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 1 9 152_152 -82 1193 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 1 9 181_181 -82 1193 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 1 9 182_182 -82 1193 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 1 9 184_184 -82 1193 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 1 9 361_361 -82 1193 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 1 9 446_446 -82 1193 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9JK11 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 1 9 450_450 -82 1193 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9JK11 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 1 9 511_511 -82 1193 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 1 9 749_749 -82 1193 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 1 9 858_858 -82 1193 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9JK11 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 1 9 881_881 -82 1193 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 1 9 991_991 -82 1193 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 1 9 1104_1104 -82 1193 not_retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 1 9 1_993 -82 1193 not_retained Alternative sequence ID=VSP_005652;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10667780,ECO:0000303|PubMed:10773680,ECO:0000303|PubMed:11042152,ECO:0000303|PubMed:12488097,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:15498874,ECO:0000303|Ref.7,ECO:0000303|Ref.8;Dbxref=PMID:10667780,PMID:10773680,PMID:11042152,PMID:12488097,PMID:15489334,PMID:15498874 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 1 9 1_206 -82 1193 not_retained Alternative sequence ID=VSP_037112;Note=In isoform 6. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11866689,ECO:0000303|PubMed:12488097;Dbxref=PMID:11866689,PMID:12488097 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 1 9 58_289 -82 1193 not_retained Alternative sequence ID=VSP_005654;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.9 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 1 9 186_1004 -82 1193 not_retained Alternative sequence ID=VSP_005655;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10667780,ECO:0000303|PubMed:10773680,ECO:0000303|PubMed:11126360,ECO:0000303|PubMed:12488097,ECO:0000303|PubMed:15489334,ECO:0000303|Ref.6,ECO:0000303|Ref.8;Dbxref=PMID:10667780,PMID:10773680,PMID:11126360,PMID:12488097,PMID:15489334 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 1 9 205_1004 -82 1193 not_retained Alternative sequence ID=VSP_037113;Note=In isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:12488097,ECO:0000303|PubMed:15489334;Dbxref=PMID:12488097,PMID:15489334 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 1 9 994_1004 -82 1193 not_retained Alternative sequence ID=VSP_005653;Note=In isoform 3. AIFSAELSKTS->MDGQKKNWKDK;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10667780,ECO:0000303|PubMed:10773680,ECO:0000303|PubMed:11042152,ECO:0000303|PubMed:12488097,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:15498874,ECO:0000303|Ref.7,ECO:0000303|Ref.8;Dbxref=PMID:10667780,PMID:10773680,PMID:11042152,PMID:12488097,PMID:15489334,PMID:15498874 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 1 9 357_357 -82 1193 not_retained Natural variant ID=VAR_053633;Note=D->V;Dbxref=dbSNP:rs11677099 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 1 9 429_429 -82 1193 not_retained Natural variant ID=VAR_035904;Note=In a colorectal cancer sample%3B somatic mutation. L->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16959974;Dbxref=PMID:16959974 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 1 9 899_899 -82 1193 not_retained Natural variant ID=VAR_053634;Note=E->Q;Dbxref=dbSNP:rs6757519 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 1 9 920_920 -82 1193 not_retained Natural variant ID=VAR_053635;Note=S->C;Dbxref=dbSNP:rs6757705 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 1 9 107_107 -82 1193 not_retained Sequence conflict Note=S->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 1 9 135_135 -82 1193 not_retained Sequence conflict Note=E->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 1 9 458_458 -82 1193 not_retained Sequence conflict Note=S->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 1 9 564_564 -82 1193 not_retained Sequence conflict Note=N->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 1 9 1059_1062 -82 1193 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G31 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 1 9 1063_1070 -82 1193 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G31 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 1 9 1074_1094 -82 1193 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G31 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 1 9 1095_1097 -82 1193 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G31 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 1 9 1100_1107 -82 1193 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G31 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 1 9 1_1192 -78 987 not_retained Chain ID=PRO_0000168165;Note=Reticulon-4 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 1 9 1_1018 -78 987 not_retained Topological domain Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 1 9 1019_1039 -78 987 not_retained Transmembrane Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 1 9 1040_1133 -78 987 not_retained Topological domain Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 1 9 1134_1154 -78 987 not_retained Transmembrane Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 1 9 1155_1192 -78 987 not_retained Topological domain Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 1 9 1005_1192 -78 987 not_retained Domain Note=Reticulon;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00170 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 1 9 30_47 -78 987 not_retained Compositional bias Note=Poly-Glu Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 1 9 143_148 -78 987 not_retained Compositional bias Note=Poly-Pro Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 1 9 1_1 -78 987 not_retained Modified residue Note=N-acetylmethionine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:19369195,ECO:0000244|PubMed:19413330,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:22223895,ECO:0000244|PubMed:22814378,ECO:0000244|PubMed:25944712,ECO:0000269|Ref.16;Dbxref=PMID:19369195,PMID:19413330,PMID:20068231,PMID:21406692,PMID:22223895,PMID:22814378,PMID:25944712 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 1 9 7_7 -78 987 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:17081983,PMID:20068231,PMID:23186163 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 1 9 15_15 -78 987 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163,ECO:0000269|Ref.16;Dbxref=PMID:20068231,PMID:21406692,PMID:23186163 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 1 9 107_107 -78 987 not_retained Sequence conflict Note=S->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 1 9 152_152 -78 987 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 1 9 181_181 -78 987 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 1 9 182_182 -78 987 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 1 9 184_184 -78 987 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 1 9 361_361 -78 987 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 1 9 446_446 -78 987 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9JK11 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 1 9 450_450 -78 987 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9JK11 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 1 9 511_511 -78 987 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 1 9 749_749 -78 987 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 1 9 858_858 -78 987 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9JK11 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 1 9 881_881 -78 987 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 1 9 991_991 -78 987 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 1 9 1104_1104 -78 987 not_retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 1 9 1_993 -78 987 not_retained Alternative sequence ID=VSP_005652;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10667780,ECO:0000303|PubMed:10773680,ECO:0000303|PubMed:11042152,ECO:0000303|PubMed:12488097,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:15498874,ECO:0000303|Ref.7,ECO:0000303|Ref.8;Dbxref=PMID:10667780,PMID:10773680,PMID:11042152,PMID:12488097,PMID:15489334,PMID:15498874 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 1 9 1_206 -78 987 not_retained Alternative sequence ID=VSP_037112;Note=In isoform 6. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11866689,ECO:0000303|PubMed:12488097;Dbxref=PMID:11866689,PMID:12488097 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 1 9 58_289 -78 987 not_retained Alternative sequence ID=VSP_005654;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.9 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 1 9 186_1004 -78 987 not_retained Alternative sequence ID=VSP_005655;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10667780,ECO:0000303|PubMed:10773680,ECO:0000303|PubMed:11126360,ECO:0000303|PubMed:12488097,ECO:0000303|PubMed:15489334,ECO:0000303|Ref.6,ECO:0000303|Ref.8;Dbxref=PMID:10667780,PMID:10773680,PMID:11126360,PMID:12488097,PMID:15489334 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 1 9 205_1004 -78 987 not_retained Alternative sequence ID=VSP_037113;Note=In isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:12488097,ECO:0000303|PubMed:15489334;Dbxref=PMID:12488097,PMID:15489334 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 1 9 994_1004 -78 987 not_retained Alternative sequence ID=VSP_005653;Note=In isoform 3. AIFSAELSKTS->MDGQKKNWKDK;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10667780,ECO:0000303|PubMed:10773680,ECO:0000303|PubMed:11042152,ECO:0000303|PubMed:12488097,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:15498874,ECO:0000303|Ref.7,ECO:0000303|Ref.8;Dbxref=PMID:10667780,PMID:10773680,PMID:11042152,PMID:12488097,PMID:15489334,PMID:15498874 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 1 9 357_357 -78 987 not_retained Natural variant ID=VAR_053633;Note=D->V;Dbxref=dbSNP:rs11677099 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 1 9 429_429 -78 987 not_retained Natural variant ID=VAR_035904;Note=In a colorectal cancer sample%3B somatic mutation. L->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16959974;Dbxref=PMID:16959974 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 1 9 899_899 -78 987 not_retained Natural variant ID=VAR_053634;Note=E->Q;Dbxref=dbSNP:rs6757519 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 1 9 920_920 -78 987 not_retained Natural variant ID=VAR_053635;Note=S->C;Dbxref=dbSNP:rs6757705 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 1 9 107_107 -78 987 not_retained Sequence conflict Note=S->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 1 9 135_135 -78 987 not_retained Sequence conflict Note=E->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 1 9 458_458 -78 987 not_retained Sequence conflict Note=S->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 1 9 564_564 -78 987 not_retained Sequence conflict Note=N->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 1 9 1059_1062 -78 987 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G31 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 1 9 1063_1070 -78 987 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G31 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 1 9 1074_1094 -78 987 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G31 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 1 9 1095_1097 -78 987 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G31 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 1 9 1100_1107 -78 987 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G31 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 1 9 1_1192 -58 987 not_retained Chain ID=PRO_0000168165;Note=Reticulon-4 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 1 9 1_1018 -58 987 not_retained Topological domain Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 1 9 1019_1039 -58 987 not_retained Transmembrane Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 1 9 1040_1133 -58 987 not_retained Topological domain Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 1 9 1134_1154 -58 987 not_retained Transmembrane Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 1 9 1155_1192 -58 987 not_retained Topological domain Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 1 9 1005_1192 -58 987 not_retained Domain Note=Reticulon;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00170 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 1 9 30_47 -58 987 not_retained Compositional bias Note=Poly-Glu Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 1 9 143_148 -58 987 not_retained Compositional bias Note=Poly-Pro Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 1 9 1_1 -58 987 not_retained Modified residue Note=N-acetylmethionine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:19369195,ECO:0000244|PubMed:19413330,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:22223895,ECO:0000244|PubMed:22814378,ECO:0000244|PubMed:25944712,ECO:0000269|Ref.16;Dbxref=PMID:19369195,PMID:19413330,PMID:20068231,PMID:21406692,PMID:22223895,PMID:22814378,PMID:25944712 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 1 9 7_7 -58 987 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:17081983,PMID:20068231,PMID:23186163 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 1 9 15_15 -58 987 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163,ECO:0000269|Ref.16;Dbxref=PMID:20068231,PMID:21406692,PMID:23186163 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 1 9 107_107 -58 987 not_retained Sequence conflict Note=S->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 1 9 152_152 -58 987 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 1 9 181_181 -58 987 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 1 9 182_182 -58 987 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 1 9 184_184 -58 987 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 1 9 361_361 -58 987 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 1 9 446_446 -58 987 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9JK11 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 1 9 450_450 -58 987 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9JK11 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 1 9 511_511 -58 987 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 1 9 749_749 -58 987 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 1 9 858_858 -58 987 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9JK11 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 1 9 881_881 -58 987 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 1 9 991_991 -58 987 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 1 9 1104_1104 -58 987 not_retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 1 9 1_993 -58 987 not_retained Alternative sequence ID=VSP_005652;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10667780,ECO:0000303|PubMed:10773680,ECO:0000303|PubMed:11042152,ECO:0000303|PubMed:12488097,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:15498874,ECO:0000303|Ref.7,ECO:0000303|Ref.8;Dbxref=PMID:10667780,PMID:10773680,PMID:11042152,PMID:12488097,PMID:15489334,PMID:15498874 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 1 9 1_206 -58 987 not_retained Alternative sequence ID=VSP_037112;Note=In isoform 6. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11866689,ECO:0000303|PubMed:12488097;Dbxref=PMID:11866689,PMID:12488097 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 1 9 58_289 -58 987 not_retained Alternative sequence ID=VSP_005654;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.9 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 1 9 186_1004 -58 987 not_retained Alternative sequence ID=VSP_005655;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10667780,ECO:0000303|PubMed:10773680,ECO:0000303|PubMed:11126360,ECO:0000303|PubMed:12488097,ECO:0000303|PubMed:15489334,ECO:0000303|Ref.6,ECO:0000303|Ref.8;Dbxref=PMID:10667780,PMID:10773680,PMID:11126360,PMID:12488097,PMID:15489334 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 1 9 205_1004 -58 987 not_retained Alternative sequence ID=VSP_037113;Note=In isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:12488097,ECO:0000303|PubMed:15489334;Dbxref=PMID:12488097,PMID:15489334 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 1 9 994_1004 -58 987 not_retained Alternative sequence ID=VSP_005653;Note=In isoform 3. AIFSAELSKTS->MDGQKKNWKDK;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10667780,ECO:0000303|PubMed:10773680,ECO:0000303|PubMed:11042152,ECO:0000303|PubMed:12488097,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:15498874,ECO:0000303|Ref.7,ECO:0000303|Ref.8;Dbxref=PMID:10667780,PMID:10773680,PMID:11042152,PMID:12488097,PMID:15489334,PMID:15498874 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 1 9 357_357 -58 987 not_retained Natural variant ID=VAR_053633;Note=D->V;Dbxref=dbSNP:rs11677099 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 1 9 429_429 -58 987 not_retained Natural variant ID=VAR_035904;Note=In a colorectal cancer sample%3B somatic mutation. L->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16959974;Dbxref=PMID:16959974 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 1 9 899_899 -58 987 not_retained Natural variant ID=VAR_053634;Note=E->Q;Dbxref=dbSNP:rs6757519 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 1 9 920_920 -58 987 not_retained Natural variant ID=VAR_053635;Note=S->C;Dbxref=dbSNP:rs6757705 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 1 9 107_107 -58 987 not_retained Sequence conflict Note=S->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 1 9 135_135 -58 987 not_retained Sequence conflict Note=E->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 1 9 458_458 -58 987 not_retained Sequence conflict Note=S->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 1 9 564_564 -58 987 not_retained Sequence conflict Note=N->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 1 9 1059_1062 -58 987 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G31 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 1 9 1063_1070 -58 987 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G31 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 1 9 1074_1094 -58 987 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G31 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 1 9 1095_1097 -58 987 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G31 Hgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 1 9 1100_1107 -58 987 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G31 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1_3969 1362 3973 not_retained Chain ID=PRO_0000124876;Note=Histone-lysine N-methyltransferase 2A Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1_2718 1362 3973 not_retained Chain ID=PRO_0000390949;Note=MLL cleavage product N320 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 2719_3969 1362 3973 not_retained Chain ID=PRO_0000390950;Note=MLL cleavage product C180 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1703_1748 1362 3973 not_retained Domain Note=Bromo%3B divergent;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00035 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 2018_2074 1362 3973 not_retained Domain Note=FYR N-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00875 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 3666_3747 1362 3973 not_retained Domain Note=FYR C-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00876 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 3829_3945 1362 3973 not_retained Domain Note=SET;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00190 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 3953_3969 1362 3973 not_retained Domain Note=Post-SET;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00155 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 169_180 1362 3973 retained DNA binding Note=A.T hook 1 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 217_227 1362 3973 retained DNA binding Note=A.T hook 2 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 301_309 1362 3973 retained DNA binding Note=A.T hook 3 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1147_1195 1362 3973 retained Zinc finger Note=CXXC-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00509 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1431_1482 1362 3973 not_retained Zinc finger Note=PHD-type 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00146 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1479_1533 1362 3973 not_retained Zinc finger Note=PHD-type 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00146 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1566_1627 1362 3973 not_retained Zinc finger Note=PHD-type 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00146 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1870_1910 1362 3973 not_retained Zinc finger Note=C2HC pre-PHD-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01146 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1931_1978 1362 3973 not_retained Zinc finger Note=PHD-type 4;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01146 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1584_1600 1362 3973 not_retained Region Note=Interaction with histone H3K4me3;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20677832;Dbxref=PMID:20677832 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 3764_3771 1362 3973 not_retained Region Note=Interaction with WDR5;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18829459;Dbxref=PMID:18829459 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 3906_3907 1362 3973 not_retained Region Note=S-adenosyl-L-methionine binding;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:2W5Y,ECO:0000244|PDB:5F5E,ECO:0000244|PDB:5F6L,ECO:0000269|PubMed:19187761,ECO:0000269|PubMed:26886794;Dbxref=PMID:19187761,PMID:26886794 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 2847_2855 1362 3973 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5SVH Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 17_102 1362 3973 retained Compositional bias Note=Ala/Gly/Ser-rich Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 137_143 1362 3973 retained Compositional bias Note=Poly-Gly Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 561_564 1362 3973 retained Compositional bias Note=Poly-Pro Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 568_571 1362 3973 retained Compositional bias Note=Poly-Pro Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 3909_3909 1362 3973 not_retained Metal binding Note=Zinc;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:2W5Y,ECO:0000244|PDB:2W5Z,ECO:0000244|PDB:5F5E,ECO:0000244|PDB:5F6L,ECO:0000269|PubMed:16990798,ECO:0000269|PubMed:19187761;Dbxref=PMID:16990798,PMID:19187761 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 3957_3957 1362 3973 not_retained Metal binding Note=Zinc;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:2W5Y,ECO:0000244|PDB:2W5Z,ECO:0000244|PDB:5F5E,ECO:0000244|PDB:5F6L,ECO:0000269|PubMed:16990798,ECO:0000269|PubMed:19187761;Dbxref=PMID:16990798,PMID:19187761 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 3959_3959 1362 3973 not_retained Metal binding Note=Zinc;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:2W5Y,ECO:0000244|PDB:2W5Z,ECO:0000244|PDB:5F5E,ECO:0000244|PDB:5F6L,ECO:0000269|PubMed:16990798,ECO:0000269|PubMed:19187761;Dbxref=PMID:16990798,PMID:19187761 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 3964_3964 1362 3973 not_retained Metal binding Note=Zinc;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:2W5Y,ECO:0000244|PDB:2W5Z,ECO:0000244|PDB:5F6L,ECO:0000269|PubMed:16990798,ECO:0000269|PubMed:19187761;Dbxref=PMID:16990798,PMID:19187761 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 3839_3839 1362 3973 not_retained Binding site Note=S-adenosyl-L-methionine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000255,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:2W5Y,ECO:0000244|PDB:5F5E,ECO:0000244|PDB:5F6L,ECO:0000255|PROSITE-ProRule:PRU00190,ECO:0000269|PubMed:19187761,ECO:0000269|PubMed:26886794;Dbxref=PMID:19187761,PMID:26886794 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 3841_3841 1362 3973 not_retained Binding site Note=S-adenosyl-L-methionine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000255,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:2W5Y,ECO:0000244|PDB:5F5E,ECO:0000244|PDB:5F6L,ECO:0000255|PROSITE-ProRule:PRU00190,ECO:0000269|PubMed:19187761,ECO:0000269|PubMed:26886794;Dbxref=PMID:19187761,PMID:26886794 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 3883_3883 1362 3973 not_retained Binding site Note=S-adenosyl-L-methionine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000255,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:2W5Z,ECO:0000244|PDB:5F5E,ECO:0000255|PROSITE-ProRule:PRU00190,ECO:0000269|PubMed:19187761,ECO:0000269|PubMed:26886794;Dbxref=PMID:19187761,PMID:26886794 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 3958_3958 1362 3973 not_retained Binding site Note=S-adenosyl-L-methionine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000255,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:2W5Y,ECO:0000244|PDB:5F5E,ECO:0000244|PDB:5F6L,ECO:0000255|PROSITE-ProRule:PRU00190,ECO:0000269|PubMed:19187761,ECO:0000269|PubMed:26886794;Dbxref=PMID:19187761,PMID:26886794 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1334_1335 1362 3973 retained Site Note=Breakpoint for translocation to form KMT2A-ZFYVE19 oncogene Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1362_1363 1362 3973 retained Site Note=Breakpoint for translocation to form KMT2A-CENPK oncogene Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1362_1363 1362 3973 retained Site Note=Breakpoint for translocation to form KMT2A-CENPK oncogene Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1362_1362 1362 3973 retained Site Note=Breakpoint for translocation to form KMT2A-FRYL fusion protein Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1406_1407 1362 3973 not_retained Site Note=Breakpoint for translocation to form KMT2A-AFF4 fusion protein Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1444_1445 1362 3973 not_retained Site Note=Breakpoint for translocation to form KMT2A-LPP Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1444_1445 1362 3973 not_retained Site Note=Breakpoint for translocation to form KMT2A-LPP Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 2666_2667 1362 3973 not_retained Mutagenesis Note=Reduces cleavage without abolishing it. Abolishes cleavage by TASP1%3B when associated with 2718-A--A-2720. DG->AA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14636557;Dbxref=PMID:14636557 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 2718_2719 1362 3973 not_retained Site Note=Cleavage%3B by TASP1%2C site 2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14636557;Dbxref=PMID:14636557 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 3765_3765 1362 3973 not_retained Site Note=Important for WDR5-recognition and binding;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19556245;Dbxref=PMID:19556245 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 153_153 1362 3973 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:20068231;Dbxref=PMID:18669648,PMID:19690332,PMID:20068231 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 197_197 1362 3973 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231;Dbxref=PMID:18669648,PMID:20068231 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 239_239 1362 3973 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P55200 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 373_373 1362 3973 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P55200 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 518_518 1362 3973 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 636_636 1362 3973 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 680_680 1362 3973 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 840_840 1362 3973 retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 926_926 1362 3973 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:20068231;Dbxref=PMID:20068231 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1056_1056 1362 3973 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1130_1130 1362 3973 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1235_1235 1362 3973 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1837_1837 1362 3973 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1845_1845 1362 3973 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1858_1858 1362 3973 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:19369195,ECO:0000244|PubMed:23186163;Dbxref=PMID:19369195,PMID:23186163 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 2098_2098 1362 3973 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:19690332,PMID:23186163 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 2147_2147 1362 3973 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 2151_2151 1362 3973 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 2201_2201 1362 3973 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:21406692;Dbxref=PMID:21406692 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 2525_2525 1362 3973 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 2611_2611 1362 3973 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 2796_2796 1362 3973 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 2955_2955 1362 3973 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:20068231,PMID:23186163 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 2958_2958 1362 3973 not_retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P55200 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 3036_3036 1362 3973 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 3372_3372 1362 3973 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231;Dbxref=PMID:18669648,PMID:20068231 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 3462_3462 1362 3973 not_retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P55200 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 3511_3511 1362 3973 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 3515_3515 1362 3973 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19690332;Dbxref=PMID:19690332 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 3527_3527 1362 3973 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 2528_2528 1362 3973 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1407_1444 1362 3973 not_retained Alternative sequence ID=VSP_006666;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:7598802;Dbxref=PMID:7598802 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1603_1603 1362 3973 not_retained Alternative sequence ID=VSP_046879;Note=In isoform 3. S->SGTE;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10706619,ECO:0000303|PubMed:1423625;Dbxref=PMID:10706619,PMID:1423625 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 30_30 1362 3973 retained Natural variant ID=VAR_021317;Note=A->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8703835;Dbxref=dbSNP:rs9332745,PMID:8703835 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 53_53 1362 3973 retained Natural variant ID=VAR_021318;Note=A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332747 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 502_502 1362 3973 retained Natural variant ID=VAR_021319;Note=E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332772 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1975_1975 1362 3973 not_retained Natural variant ID=VAR_052652;Note=Q->P;Dbxref=dbSNP:rs693598 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 2319_2319 1362 3973 not_retained Natural variant ID=VAR_021320;Note=S->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332837 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 2354_2354 1362 3973 not_retained Natural variant ID=VAR_021321;Note=P->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332838 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 2387_2387 1362 3973 not_retained Natural variant ID=VAR_021322;Note=Q->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332839 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 3714_3714 1362 3973 not_retained Natural variant ID=VAR_021323;Note=V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332859 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 3773_3773 1362 3973 not_retained Natural variant ID=VAR_021324;Note=S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332861 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1150_1150 1362 3973 retained Mutagenesis Note=Impairs DNA-binding. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20010842;Dbxref=PMID:20010842 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1151_1151 1362 3973 retained Mutagenesis Note=Impairs DNA-binding. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1153_1153 1362 3973 retained Mutagenesis Note=No effect on stability or DNA-binding. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1154_1154 1362 3973 retained Mutagenesis Note=Impairs DNA-binding. R->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16990798,ECO:0000269|PubMed:20010842;Dbxref=PMID:16990798,PMID:20010842 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1155_1155 1362 3973 retained Mutagenesis Note=Abolishes zinc-binding and stability of the CXXC-type zinc finger and causes loss of DNA-binding. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1158_1158 1362 3973 retained Mutagenesis Note=Abolishes zinc-binding and stability of the CXXC-type zinc finger and causes loss of DNA-binding. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1161_1161 1362 3973 retained Mutagenesis Note=Abolishes zinc-binding and stability of the CXXC-type zinc finger and causes loss of DNA-binding. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1162_1162 1362 3973 retained Mutagenesis Note=No effect on stability or DNA-binding. Q->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1166_1166 1362 3973 retained Mutagenesis Note=Abolishes zinc-binding and stability of the CXXC-type zinc finger and causes loss of DNA-binding. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1167_1167 1362 3973 retained Mutagenesis Note=Abolishes zinc-binding and stability of the CXXC-type zinc finger and causes loss of DNA-binding. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1170_1170 1362 3973 retained Mutagenesis Note=Abolishes zinc-binding and stability of the CXXC-type zinc finger and causes loss of DNA-binding. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1172_1172 1362 3973 retained Mutagenesis Note=No effect on stability or DNA-binding. N->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1173_1173 1362 3973 retained Mutagenesis Note=Abolishes zinc-binding and stability of the CXXC-type zinc finger and causes loss of DNA-binding. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1175_1175 1362 3973 retained Mutagenesis Note=Impairs DNA-binding. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1176_1176 1362 3973 retained Mutagenesis Note=Impairs DNA-binding. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1178_1181 1362 3973 retained Mutagenesis Note=Abolishes zinc-binding and stability of the CXXC-type zinc finger and causes loss of DNA-binding. KFGG->AAAA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1178_1178 1362 3973 retained Mutagenesis Note=Impairs DNA-binding. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1179_1179 1362 3973 retained Mutagenesis Note=Impairs DNA-binding. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1183_1183 1362 3973 retained Mutagenesis Note=Impairs DNA-binding. N->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1185_1185 1362 3973 retained Mutagenesis Note=Impairs DNA-binding. K->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16990798,ECO:0000269|PubMed:20010842;Dbxref=PMID:16990798,PMID:20010842 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1186_1186 1362 3973 retained Mutagenesis Note=Impairs DNA-binding. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1187_1187 1362 3973 retained Mutagenesis Note=Impairs DNA-binding. Q->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16990798,ECO:0000269|PubMed:20010842;Dbxref=PMID:16990798,PMID:20010842 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1188_1188 1362 3973 retained Mutagenesis Note=Abolishes DNA-binding and increases CpG methylation of the HOXA9 promoter region. Does not lead to the development of leukemia when overexpressed in mice as gene fusion with MLLT3. C->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20010842;Dbxref=PMID:20010842 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1188_1188 1362 3973 retained Mutagenesis Note=Abolishes DNA-binding and increases CpG methylation of the HOXA9 promoter region. Does not lead to the development of leukemia when overexpressed in mice as gene fusion with MLLT3. C->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20010842;Dbxref=PMID:20010842 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1189_1189 1362 3973 retained Mutagenesis Note=Abolishes zinc-binding and stability of the CXXC-type zinc finger and causes loss of DNA-binding. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1192_1192 1362 3973 retained Mutagenesis Note=Abolishes zinc-binding and stability of the CXXC-type zinc finger and causes loss of DNA-binding. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1193_1193 1362 3973 retained Mutagenesis Note=Impairs DNA-binding. K->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16990798,ECO:0000269|PubMed:20010842;Dbxref=PMID:16990798,PMID:20010842 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1194_1194 1362 3973 retained Mutagenesis Note=Impairs zinc-binding and stability of the CXXC-type zinc finger and causes loss of DNA-binding. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1195_1195 1362 3973 retained Mutagenesis Note=No effect on stability or DNA-binding. Q->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1196_1196 1362 3973 retained Mutagenesis Note=No effect on stability or DNA-binding. N->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1197_1197 1362 3973 retained Mutagenesis Note=Mildly decreases DNA-binding. L->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20010842;Dbxref=PMID:20010842 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1200_1200 1362 3973 retained Mutagenesis Note=No effect on DNA-binding. M->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20010842;Dbxref=PMID:20010842 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1581_1581 1362 3973 not_retained Mutagenesis Note=Decreases affinity for histone H3K4me3. Y->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20541251;Dbxref=PMID:20541251 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1587_1587 1362 3973 not_retained Mutagenesis Note=Decreases affinity for histone H3K4me3. Q->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20541251;Dbxref=PMID:20541251 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1594_1594 1362 3973 not_retained Mutagenesis Note=Decreases affinity for histone H3K4me3. W->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20541251;Dbxref=PMID:20541251 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1594_1594 1362 3973 not_retained Mutagenesis Note=Decreases affinity for histone H3K4me3. W->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20541251;Dbxref=PMID:20541251 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1617_1617 1362 3973 not_retained Mutagenesis Note=Decreases binding affinity for PPIE. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20677832;Dbxref=PMID:20677832 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1619_1619 1362 3973 not_retained Mutagenesis Note=May perturb protein folding and thereby decrease binding affinity for PPIE. Y->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20677832;Dbxref=PMID:20677832 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 2666_2667 1362 3973 not_retained Mutagenesis Note=Reduces cleavage without abolishing it. Abolishes cleavage by TASP1%3B when associated with 2718-A--A-2720. DG->AA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14636557;Dbxref=PMID:14636557 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 2718_2720 1362 3973 not_retained Mutagenesis Note=Abolishes cleavage by TASP1%3B when associated with 2666-A-A-2667. DGV->AAA;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12482972,ECO:0000269|PubMed:14636557;Dbxref=PMID:12482972,PMID:14636557 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 3858_3858 1362 3973 not_retained Mutagenesis Note=Slightly affects methyltransferase activity toward unmodified or monomethylated H3K4me. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19187761;Dbxref=PMID:19187761 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 3858_3858 1362 3973 not_retained Mutagenesis Note=Slightly affects methyltransferase activity toward unmodified or monomethylated H3K4me. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19187761;Dbxref=PMID:19187761 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 3861_3861 1362 3973 not_retained Mutagenesis Note=Leads to stable interaction with ASH2L and RBBP5 in the absence of WDR5%3B when associated with V-3867. N->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26886794;Dbxref=PMID:26886794 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 3861_3861 1362 3973 not_retained Mutagenesis Note=Leads to stable interaction with ASH2L and RBBP5 in the absence of WDR5%3B when associated with V-3867. N->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26886794;Dbxref=PMID:26886794 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 3864_3864 1362 3973 not_retained Mutagenesis Note=Disrupts interaction with ASH2L and RBBP5 and nearly abolishes histone methyltransferase activity. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26886794;Dbxref=PMID:26886794 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 3867_3867 1362 3973 not_retained Mutagenesis Note=Leads to stable interaction with ASH2L and RBBP5 in the absence of WDR5%3B when associated with T-3861. Q->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26886794;Dbxref=PMID:26886794 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 3867_3867 1362 3973 not_retained Mutagenesis Note=Leads to stable interaction with ASH2L and RBBP5 in the absence of WDR5%3B when associated with T-3861. Q->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26886794;Dbxref=PMID:26886794 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 3867_3867 1362 3973 not_retained Mutagenesis Note=Leads to stable interaction with ASH2L and RBBP5 in the absence of WDR5%3B when associated with T-3861. Q->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26886794;Dbxref=PMID:26886794 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 3869_3869 1362 3973 not_retained Mutagenesis Note=Does not affect methyltransferase activity of the enzyme alone or in complex%3B when associated with A-3872. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19187761;Dbxref=PMID:19187761 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 3871_3871 1362 3973 not_retained Mutagenesis Note=Slightly affects methyltransferase activity of the enzyme alone%2C while it impairs methyltransferase activity in complex%3B when associated with A-3867. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19187761;Dbxref=PMID:19187761 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 3872_3872 1362 3973 not_retained Mutagenesis Note=Does not affect methyltransferase activity of the enzyme alone or in complex%3B when associated with A-3869. E->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19187761;Dbxref=PMID:19187761 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 3874_3874 1362 3973 not_retained Mutagenesis Note=Affects methyltransferase activity of the enzyme alone%2C while it does not affect methyltransferase activity in complex%3B when associated with A-3878. Y->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19187761;Dbxref=PMID:19187761 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 3878_3878 1362 3973 not_retained Mutagenesis Note=Affects methyltransferase activity of the enzyme alone%2C while it does not affect methyltransferase activity in complex%3B when associated with A-3874. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19187761;Dbxref=PMID:19187761 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 3906_3906 1362 3973 not_retained Mutagenesis Note=Loss of the histone H3 methyltransferase activity. N->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19556245;Dbxref=PMID:19556245 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 3942_3942 1362 3973 not_retained Mutagenesis Note=Shifts from a specific monomethyltransferase to a di- and trimethyltransferase activity. Y->F;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19187761,ECO:0000269|PubMed:19556245;Dbxref=PMID:19187761,PMID:19556245 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 3942_3942 1362 3973 not_retained Mutagenesis Note=Shifts from a specific monomethyltransferase to a di- and trimethyltransferase activity. Y->F;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19187761,ECO:0000269|PubMed:19556245;Dbxref=PMID:19187761,PMID:19556245 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 144_144 1362 3973 retained Sequence conflict Note=E->ELTTQIPCSWRTKGHIHDKKTEPFRLLAWSWCLN;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 556_556 1362 3973 retained Sequence conflict Note=Q->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 556_556 1362 3973 retained Sequence conflict Note=Q->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1347_1347 1362 3973 retained Sequence conflict Note=V->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1487_1487 1362 3973 not_retained Sequence conflict Note=R->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1490_1490 1362 3973 not_retained Sequence conflict Note=Q->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1507_1507 1362 3973 not_retained Sequence conflict Note=P->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1513_1513 1362 3973 not_retained Sequence conflict Note=N->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1600_1600 1362 3973 not_retained Sequence conflict Note=E->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1616_1616 1362 3973 not_retained Sequence conflict Note=S->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1937_1937 1362 3973 not_retained Sequence conflict Note=Q->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 2181_2181 1362 3973 not_retained Sequence conflict Note=P->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 3556_3556 1362 3973 not_retained Sequence conflict Note=K->N;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 3718_3718 1362 3973 not_retained Sequence conflict Note=R->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 3759_3759 1362 3973 not_retained Sequence conflict Note=N->D;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 3813_3813 1362 3973 not_retained Sequence conflict Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 3901_3901 1362 3973 not_retained Sequence conflict Note=A->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 114_133 1362 3973 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3U88 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 135_138 1362 3973 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MTN Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 150_152 1362 3973 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MSR Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1151_1154 1362 3973 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2J2S Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1156_1158 1362 3973 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NW3 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1159_1162 1362 3973 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NW3 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1168_1170 1362 3973 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NW3 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1171_1175 1362 3973 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NW3 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1177_1179 1362 3973 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NW3 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1183_1185 1362 3973 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2J2S Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1190_1192 1362 3973 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NW3 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1197_1200 1362 3973 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2J2S Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1204_1206 1362 3973 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2J2S Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1566_1568 1362 3973 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQI Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1570_1572 1362 3973 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1575_1577 1362 3973 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQI Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1578_1582 1362 3973 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2KYU Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1585_1587 1362 3973 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1589_1591 1362 3973 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1594_1596 1362 3973 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1597_1599 1362 3973 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1604_1612 1362 3973 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1614_1617 1362 3973 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1622_1624 1362 3973 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1627_1629 1362 3973 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1631_1652 1362 3973 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1655_1661 1362 3973 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1708_1716 1362 3973 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1723_1740 1362 3973 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1745_1765 1362 3973 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 1771_1773 1362 3973 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 2847_2855 1362 3973 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5SVH Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 3764_3766 1362 3973 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4ESG Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 3796_3799 1362 3973 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2W5Y Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 3809_3811 1362 3973 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2W5Y Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 3816_3820 1362 3973 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 3823_3830 1362 3973 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 3831_3835 1362 3973 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 3837_3847 1362 3973 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 3854_3857 1362 3973 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 3860_3864 1362 3973 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 3865_3867 1362 3973 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 3868_3877 1362 3973 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 3884_3886 1362 3973 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 3888_3894 1362 3973 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 3896_3898 1362 3973 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 3901_3904 1362 3973 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 3912_3920 1362 3973 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 3923_3932 1362 3973 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 8 36 3939_3942 1362 3973 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1_3969 1362 3970 not_retained Chain ID=PRO_0000124876;Note=Histone-lysine N-methyltransferase 2A Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1_2718 1362 3970 not_retained Chain ID=PRO_0000390949;Note=MLL cleavage product N320 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 2719_3969 1362 3970 not_retained Chain ID=PRO_0000390950;Note=MLL cleavage product C180 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1703_1748 1362 3970 not_retained Domain Note=Bromo%3B divergent;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00035 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 2018_2074 1362 3970 not_retained Domain Note=FYR N-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00875 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 3666_3747 1362 3970 not_retained Domain Note=FYR C-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00876 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 3829_3945 1362 3970 not_retained Domain Note=SET;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00190 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 3953_3969 1362 3970 not_retained Domain Note=Post-SET;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00155 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 169_180 1362 3970 retained DNA binding Note=A.T hook 1 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 217_227 1362 3970 retained DNA binding Note=A.T hook 2 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 301_309 1362 3970 retained DNA binding Note=A.T hook 3 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1147_1195 1362 3970 retained Zinc finger Note=CXXC-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00509 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1431_1482 1362 3970 not_retained Zinc finger Note=PHD-type 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00146 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1479_1533 1362 3970 not_retained Zinc finger Note=PHD-type 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00146 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1566_1627 1362 3970 not_retained Zinc finger Note=PHD-type 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00146 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1870_1910 1362 3970 not_retained Zinc finger Note=C2HC pre-PHD-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01146 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1931_1978 1362 3970 not_retained Zinc finger Note=PHD-type 4;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01146 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1584_1600 1362 3970 not_retained Region Note=Interaction with histone H3K4me3;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20677832;Dbxref=PMID:20677832 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 3764_3771 1362 3970 not_retained Region Note=Interaction with WDR5;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18829459;Dbxref=PMID:18829459 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 3906_3907 1362 3970 not_retained Region Note=S-adenosyl-L-methionine binding;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:2W5Y,ECO:0000244|PDB:5F5E,ECO:0000244|PDB:5F6L,ECO:0000269|PubMed:19187761,ECO:0000269|PubMed:26886794;Dbxref=PMID:19187761,PMID:26886794 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 2847_2855 1362 3970 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5SVH Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 17_102 1362 3970 retained Compositional bias Note=Ala/Gly/Ser-rich Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 137_143 1362 3970 retained Compositional bias Note=Poly-Gly Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 561_564 1362 3970 retained Compositional bias Note=Poly-Pro Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 568_571 1362 3970 retained Compositional bias Note=Poly-Pro Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 3909_3909 1362 3970 not_retained Metal binding Note=Zinc;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:2W5Y,ECO:0000244|PDB:2W5Z,ECO:0000244|PDB:5F5E,ECO:0000244|PDB:5F6L,ECO:0000269|PubMed:16990798,ECO:0000269|PubMed:19187761;Dbxref=PMID:16990798,PMID:19187761 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 3957_3957 1362 3970 not_retained Metal binding Note=Zinc;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:2W5Y,ECO:0000244|PDB:2W5Z,ECO:0000244|PDB:5F5E,ECO:0000244|PDB:5F6L,ECO:0000269|PubMed:16990798,ECO:0000269|PubMed:19187761;Dbxref=PMID:16990798,PMID:19187761 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 3959_3959 1362 3970 not_retained Metal binding Note=Zinc;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:2W5Y,ECO:0000244|PDB:2W5Z,ECO:0000244|PDB:5F5E,ECO:0000244|PDB:5F6L,ECO:0000269|PubMed:16990798,ECO:0000269|PubMed:19187761;Dbxref=PMID:16990798,PMID:19187761 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 3964_3964 1362 3970 not_retained Metal binding Note=Zinc;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:2W5Y,ECO:0000244|PDB:2W5Z,ECO:0000244|PDB:5F6L,ECO:0000269|PubMed:16990798,ECO:0000269|PubMed:19187761;Dbxref=PMID:16990798,PMID:19187761 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 3839_3839 1362 3970 not_retained Binding site Note=S-adenosyl-L-methionine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000255,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:2W5Y,ECO:0000244|PDB:5F5E,ECO:0000244|PDB:5F6L,ECO:0000255|PROSITE-ProRule:PRU00190,ECO:0000269|PubMed:19187761,ECO:0000269|PubMed:26886794;Dbxref=PMID:19187761,PMID:26886794 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 3841_3841 1362 3970 not_retained Binding site Note=S-adenosyl-L-methionine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000255,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:2W5Y,ECO:0000244|PDB:5F5E,ECO:0000244|PDB:5F6L,ECO:0000255|PROSITE-ProRule:PRU00190,ECO:0000269|PubMed:19187761,ECO:0000269|PubMed:26886794;Dbxref=PMID:19187761,PMID:26886794 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 3883_3883 1362 3970 not_retained Binding site Note=S-adenosyl-L-methionine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000255,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:2W5Z,ECO:0000244|PDB:5F5E,ECO:0000255|PROSITE-ProRule:PRU00190,ECO:0000269|PubMed:19187761,ECO:0000269|PubMed:26886794;Dbxref=PMID:19187761,PMID:26886794 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 3958_3958 1362 3970 not_retained Binding site Note=S-adenosyl-L-methionine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000255,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:2W5Y,ECO:0000244|PDB:5F5E,ECO:0000244|PDB:5F6L,ECO:0000255|PROSITE-ProRule:PRU00190,ECO:0000269|PubMed:19187761,ECO:0000269|PubMed:26886794;Dbxref=PMID:19187761,PMID:26886794 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1334_1335 1362 3970 retained Site Note=Breakpoint for translocation to form KMT2A-ZFYVE19 oncogene Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1362_1363 1362 3970 retained Site Note=Breakpoint for translocation to form KMT2A-CENPK oncogene Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1362_1363 1362 3970 retained Site Note=Breakpoint for translocation to form KMT2A-CENPK oncogene Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1362_1362 1362 3970 retained Site Note=Breakpoint for translocation to form KMT2A-FRYL fusion protein Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1406_1407 1362 3970 not_retained Site Note=Breakpoint for translocation to form KMT2A-AFF4 fusion protein Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1444_1445 1362 3970 not_retained Site Note=Breakpoint for translocation to form KMT2A-LPP Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1444_1445 1362 3970 not_retained Site Note=Breakpoint for translocation to form KMT2A-LPP Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 2666_2667 1362 3970 not_retained Mutagenesis Note=Reduces cleavage without abolishing it. Abolishes cleavage by TASP1%3B when associated with 2718-A--A-2720. DG->AA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14636557;Dbxref=PMID:14636557 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 2718_2719 1362 3970 not_retained Site Note=Cleavage%3B by TASP1%2C site 2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14636557;Dbxref=PMID:14636557 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 3765_3765 1362 3970 not_retained Site Note=Important for WDR5-recognition and binding;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19556245;Dbxref=PMID:19556245 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 153_153 1362 3970 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:20068231;Dbxref=PMID:18669648,PMID:19690332,PMID:20068231 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 197_197 1362 3970 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231;Dbxref=PMID:18669648,PMID:20068231 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 239_239 1362 3970 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P55200 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 373_373 1362 3970 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P55200 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 518_518 1362 3970 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 636_636 1362 3970 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 680_680 1362 3970 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 840_840 1362 3970 retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 926_926 1362 3970 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:20068231;Dbxref=PMID:20068231 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1056_1056 1362 3970 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1130_1130 1362 3970 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1235_1235 1362 3970 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1837_1837 1362 3970 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1845_1845 1362 3970 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1858_1858 1362 3970 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:19369195,ECO:0000244|PubMed:23186163;Dbxref=PMID:19369195,PMID:23186163 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 2098_2098 1362 3970 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:19690332,PMID:23186163 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 2147_2147 1362 3970 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 2151_2151 1362 3970 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 2201_2201 1362 3970 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:21406692;Dbxref=PMID:21406692 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 2525_2525 1362 3970 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 2611_2611 1362 3970 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 2796_2796 1362 3970 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 2955_2955 1362 3970 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:20068231,PMID:23186163 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 2958_2958 1362 3970 not_retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P55200 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 3036_3036 1362 3970 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 3372_3372 1362 3970 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231;Dbxref=PMID:18669648,PMID:20068231 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 3462_3462 1362 3970 not_retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P55200 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 3511_3511 1362 3970 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 3515_3515 1362 3970 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19690332;Dbxref=PMID:19690332 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 3527_3527 1362 3970 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 2528_2528 1362 3970 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1407_1444 1362 3970 not_retained Alternative sequence ID=VSP_006666;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:7598802;Dbxref=PMID:7598802 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1603_1603 1362 3970 not_retained Alternative sequence ID=VSP_046879;Note=In isoform 3. S->SGTE;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10706619,ECO:0000303|PubMed:1423625;Dbxref=PMID:10706619,PMID:1423625 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 30_30 1362 3970 retained Natural variant ID=VAR_021317;Note=A->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8703835;Dbxref=dbSNP:rs9332745,PMID:8703835 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 53_53 1362 3970 retained Natural variant ID=VAR_021318;Note=A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332747 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 502_502 1362 3970 retained Natural variant ID=VAR_021319;Note=E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332772 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1975_1975 1362 3970 not_retained Natural variant ID=VAR_052652;Note=Q->P;Dbxref=dbSNP:rs693598 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 2319_2319 1362 3970 not_retained Natural variant ID=VAR_021320;Note=S->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332837 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 2354_2354 1362 3970 not_retained Natural variant ID=VAR_021321;Note=P->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332838 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 2387_2387 1362 3970 not_retained Natural variant ID=VAR_021322;Note=Q->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332839 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 3714_3714 1362 3970 not_retained Natural variant ID=VAR_021323;Note=V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332859 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 3773_3773 1362 3970 not_retained Natural variant ID=VAR_021324;Note=S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332861 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1150_1150 1362 3970 retained Mutagenesis Note=Impairs DNA-binding. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20010842;Dbxref=PMID:20010842 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1151_1151 1362 3970 retained Mutagenesis Note=Impairs DNA-binding. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1153_1153 1362 3970 retained Mutagenesis Note=No effect on stability or DNA-binding. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1154_1154 1362 3970 retained Mutagenesis Note=Impairs DNA-binding. R->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16990798,ECO:0000269|PubMed:20010842;Dbxref=PMID:16990798,PMID:20010842 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1155_1155 1362 3970 retained Mutagenesis Note=Abolishes zinc-binding and stability of the CXXC-type zinc finger and causes loss of DNA-binding. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1158_1158 1362 3970 retained Mutagenesis Note=Abolishes zinc-binding and stability of the CXXC-type zinc finger and causes loss of DNA-binding. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1161_1161 1362 3970 retained Mutagenesis Note=Abolishes zinc-binding and stability of the CXXC-type zinc finger and causes loss of DNA-binding. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1162_1162 1362 3970 retained Mutagenesis Note=No effect on stability or DNA-binding. Q->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1166_1166 1362 3970 retained Mutagenesis Note=Abolishes zinc-binding and stability of the CXXC-type zinc finger and causes loss of DNA-binding. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1167_1167 1362 3970 retained Mutagenesis Note=Abolishes zinc-binding and stability of the CXXC-type zinc finger and causes loss of DNA-binding. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1170_1170 1362 3970 retained Mutagenesis Note=Abolishes zinc-binding and stability of the CXXC-type zinc finger and causes loss of DNA-binding. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1172_1172 1362 3970 retained Mutagenesis Note=No effect on stability or DNA-binding. N->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1173_1173 1362 3970 retained Mutagenesis Note=Abolishes zinc-binding and stability of the CXXC-type zinc finger and causes loss of DNA-binding. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1175_1175 1362 3970 retained Mutagenesis Note=Impairs DNA-binding. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1176_1176 1362 3970 retained Mutagenesis Note=Impairs DNA-binding. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1178_1181 1362 3970 retained Mutagenesis Note=Abolishes zinc-binding and stability of the CXXC-type zinc finger and causes loss of DNA-binding. KFGG->AAAA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1178_1178 1362 3970 retained Mutagenesis Note=Impairs DNA-binding. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1179_1179 1362 3970 retained Mutagenesis Note=Impairs DNA-binding. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1183_1183 1362 3970 retained Mutagenesis Note=Impairs DNA-binding. N->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1185_1185 1362 3970 retained Mutagenesis Note=Impairs DNA-binding. K->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16990798,ECO:0000269|PubMed:20010842;Dbxref=PMID:16990798,PMID:20010842 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1186_1186 1362 3970 retained Mutagenesis Note=Impairs DNA-binding. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1187_1187 1362 3970 retained Mutagenesis Note=Impairs DNA-binding. Q->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16990798,ECO:0000269|PubMed:20010842;Dbxref=PMID:16990798,PMID:20010842 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1188_1188 1362 3970 retained Mutagenesis Note=Abolishes DNA-binding and increases CpG methylation of the HOXA9 promoter region. Does not lead to the development of leukemia when overexpressed in mice as gene fusion with MLLT3. C->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20010842;Dbxref=PMID:20010842 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1188_1188 1362 3970 retained Mutagenesis Note=Abolishes DNA-binding and increases CpG methylation of the HOXA9 promoter region. Does not lead to the development of leukemia when overexpressed in mice as gene fusion with MLLT3. C->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20010842;Dbxref=PMID:20010842 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1189_1189 1362 3970 retained Mutagenesis Note=Abolishes zinc-binding and stability of the CXXC-type zinc finger and causes loss of DNA-binding. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1192_1192 1362 3970 retained Mutagenesis Note=Abolishes zinc-binding and stability of the CXXC-type zinc finger and causes loss of DNA-binding. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1193_1193 1362 3970 retained Mutagenesis Note=Impairs DNA-binding. K->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16990798,ECO:0000269|PubMed:20010842;Dbxref=PMID:16990798,PMID:20010842 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1194_1194 1362 3970 retained Mutagenesis Note=Impairs zinc-binding and stability of the CXXC-type zinc finger and causes loss of DNA-binding. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1195_1195 1362 3970 retained Mutagenesis Note=No effect on stability or DNA-binding. Q->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1196_1196 1362 3970 retained Mutagenesis Note=No effect on stability or DNA-binding. N->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1197_1197 1362 3970 retained Mutagenesis Note=Mildly decreases DNA-binding. L->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20010842;Dbxref=PMID:20010842 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1200_1200 1362 3970 retained Mutagenesis Note=No effect on DNA-binding. M->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20010842;Dbxref=PMID:20010842 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1581_1581 1362 3970 not_retained Mutagenesis Note=Decreases affinity for histone H3K4me3. Y->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20541251;Dbxref=PMID:20541251 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1587_1587 1362 3970 not_retained Mutagenesis Note=Decreases affinity for histone H3K4me3. Q->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20541251;Dbxref=PMID:20541251 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1594_1594 1362 3970 not_retained Mutagenesis Note=Decreases affinity for histone H3K4me3. W->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20541251;Dbxref=PMID:20541251 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1594_1594 1362 3970 not_retained Mutagenesis Note=Decreases affinity for histone H3K4me3. W->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20541251;Dbxref=PMID:20541251 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1617_1617 1362 3970 not_retained Mutagenesis Note=Decreases binding affinity for PPIE. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20677832;Dbxref=PMID:20677832 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1619_1619 1362 3970 not_retained Mutagenesis Note=May perturb protein folding and thereby decrease binding affinity for PPIE. Y->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20677832;Dbxref=PMID:20677832 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 2666_2667 1362 3970 not_retained Mutagenesis Note=Reduces cleavage without abolishing it. Abolishes cleavage by TASP1%3B when associated with 2718-A--A-2720. DG->AA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14636557;Dbxref=PMID:14636557 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 2718_2720 1362 3970 not_retained Mutagenesis Note=Abolishes cleavage by TASP1%3B when associated with 2666-A-A-2667. DGV->AAA;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12482972,ECO:0000269|PubMed:14636557;Dbxref=PMID:12482972,PMID:14636557 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 3858_3858 1362 3970 not_retained Mutagenesis Note=Slightly affects methyltransferase activity toward unmodified or monomethylated H3K4me. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19187761;Dbxref=PMID:19187761 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 3858_3858 1362 3970 not_retained Mutagenesis Note=Slightly affects methyltransferase activity toward unmodified or monomethylated H3K4me. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19187761;Dbxref=PMID:19187761 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 3861_3861 1362 3970 not_retained Mutagenesis Note=Leads to stable interaction with ASH2L and RBBP5 in the absence of WDR5%3B when associated with V-3867. N->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26886794;Dbxref=PMID:26886794 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 3861_3861 1362 3970 not_retained Mutagenesis Note=Leads to stable interaction with ASH2L and RBBP5 in the absence of WDR5%3B when associated with V-3867. N->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26886794;Dbxref=PMID:26886794 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 3864_3864 1362 3970 not_retained Mutagenesis Note=Disrupts interaction with ASH2L and RBBP5 and nearly abolishes histone methyltransferase activity. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26886794;Dbxref=PMID:26886794 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 3867_3867 1362 3970 not_retained Mutagenesis Note=Leads to stable interaction with ASH2L and RBBP5 in the absence of WDR5%3B when associated with T-3861. Q->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26886794;Dbxref=PMID:26886794 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 3867_3867 1362 3970 not_retained Mutagenesis Note=Leads to stable interaction with ASH2L and RBBP5 in the absence of WDR5%3B when associated with T-3861. Q->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26886794;Dbxref=PMID:26886794 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 3867_3867 1362 3970 not_retained Mutagenesis Note=Leads to stable interaction with ASH2L and RBBP5 in the absence of WDR5%3B when associated with T-3861. Q->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26886794;Dbxref=PMID:26886794 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 3869_3869 1362 3970 not_retained Mutagenesis Note=Does not affect methyltransferase activity of the enzyme alone or in complex%3B when associated with A-3872. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19187761;Dbxref=PMID:19187761 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 3871_3871 1362 3970 not_retained Mutagenesis Note=Slightly affects methyltransferase activity of the enzyme alone%2C while it impairs methyltransferase activity in complex%3B when associated with A-3867. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19187761;Dbxref=PMID:19187761 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 3872_3872 1362 3970 not_retained Mutagenesis Note=Does not affect methyltransferase activity of the enzyme alone or in complex%3B when associated with A-3869. E->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19187761;Dbxref=PMID:19187761 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 3874_3874 1362 3970 not_retained Mutagenesis Note=Affects methyltransferase activity of the enzyme alone%2C while it does not affect methyltransferase activity in complex%3B when associated with A-3878. Y->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19187761;Dbxref=PMID:19187761 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 3878_3878 1362 3970 not_retained Mutagenesis Note=Affects methyltransferase activity of the enzyme alone%2C while it does not affect methyltransferase activity in complex%3B when associated with A-3874. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19187761;Dbxref=PMID:19187761 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 3906_3906 1362 3970 not_retained Mutagenesis Note=Loss of the histone H3 methyltransferase activity. N->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19556245;Dbxref=PMID:19556245 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 3942_3942 1362 3970 not_retained Mutagenesis Note=Shifts from a specific monomethyltransferase to a di- and trimethyltransferase activity. Y->F;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19187761,ECO:0000269|PubMed:19556245;Dbxref=PMID:19187761,PMID:19556245 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 3942_3942 1362 3970 not_retained Mutagenesis Note=Shifts from a specific monomethyltransferase to a di- and trimethyltransferase activity. Y->F;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19187761,ECO:0000269|PubMed:19556245;Dbxref=PMID:19187761,PMID:19556245 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 144_144 1362 3970 retained Sequence conflict Note=E->ELTTQIPCSWRTKGHIHDKKTEPFRLLAWSWCLN;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 556_556 1362 3970 retained Sequence conflict Note=Q->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 556_556 1362 3970 retained Sequence conflict Note=Q->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1347_1347 1362 3970 retained Sequence conflict Note=V->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1487_1487 1362 3970 not_retained Sequence conflict Note=R->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1490_1490 1362 3970 not_retained Sequence conflict Note=Q->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1507_1507 1362 3970 not_retained Sequence conflict Note=P->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1513_1513 1362 3970 not_retained Sequence conflict Note=N->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1600_1600 1362 3970 not_retained Sequence conflict Note=E->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1616_1616 1362 3970 not_retained Sequence conflict Note=S->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1937_1937 1362 3970 not_retained Sequence conflict Note=Q->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 2181_2181 1362 3970 not_retained Sequence conflict Note=P->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 3556_3556 1362 3970 not_retained Sequence conflict Note=K->N;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 3718_3718 1362 3970 not_retained Sequence conflict Note=R->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 3759_3759 1362 3970 not_retained Sequence conflict Note=N->D;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 3813_3813 1362 3970 not_retained Sequence conflict Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 3901_3901 1362 3970 not_retained Sequence conflict Note=A->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 114_133 1362 3970 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3U88 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 135_138 1362 3970 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MTN Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 150_152 1362 3970 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MSR Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1151_1154 1362 3970 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2J2S Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1156_1158 1362 3970 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NW3 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1159_1162 1362 3970 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NW3 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1168_1170 1362 3970 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NW3 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1171_1175 1362 3970 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NW3 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1177_1179 1362 3970 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NW3 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1183_1185 1362 3970 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2J2S Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1190_1192 1362 3970 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NW3 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1197_1200 1362 3970 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2J2S Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1204_1206 1362 3970 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2J2S Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1566_1568 1362 3970 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQI Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1570_1572 1362 3970 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1575_1577 1362 3970 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQI Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1578_1582 1362 3970 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2KYU Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1585_1587 1362 3970 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1589_1591 1362 3970 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1594_1596 1362 3970 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1597_1599 1362 3970 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1604_1612 1362 3970 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1614_1617 1362 3970 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1622_1624 1362 3970 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1627_1629 1362 3970 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1631_1652 1362 3970 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1655_1661 1362 3970 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1708_1716 1362 3970 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1723_1740 1362 3970 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1745_1765 1362 3970 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 1771_1773 1362 3970 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 2847_2855 1362 3970 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5SVH Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 3764_3766 1362 3970 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4ESG Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 3796_3799 1362 3970 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2W5Y Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 3809_3811 1362 3970 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2W5Y Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 3816_3820 1362 3970 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 3823_3830 1362 3970 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 3831_3835 1362 3970 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 3837_3847 1362 3970 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 3854_3857 1362 3970 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 3860_3864 1362 3970 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 3865_3867 1362 3970 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 3868_3877 1362 3970 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 3884_3886 1362 3970 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 3888_3894 1362 3970 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 3896_3898 1362 3970 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 3901_3904 1362 3970 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 3912_3920 1362 3970 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 3923_3932 1362 3970 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 8 36 3939_3942 1362 3970 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1_3969 1362 3932 not_retained Chain ID=PRO_0000124876;Note=Histone-lysine N-methyltransferase 2A Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1_2718 1362 3932 not_retained Chain ID=PRO_0000390949;Note=MLL cleavage product N320 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 2719_3969 1362 3932 not_retained Chain ID=PRO_0000390950;Note=MLL cleavage product C180 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1703_1748 1362 3932 not_retained Domain Note=Bromo%3B divergent;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00035 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 2018_2074 1362 3932 not_retained Domain Note=FYR N-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00875 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 3666_3747 1362 3932 not_retained Domain Note=FYR C-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00876 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 3829_3945 1362 3932 not_retained Domain Note=SET;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00190 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 3953_3969 1362 3932 not_retained Domain Note=Post-SET;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00155 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 169_180 1362 3932 retained DNA binding Note=A.T hook 1 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 217_227 1362 3932 retained DNA binding Note=A.T hook 2 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 301_309 1362 3932 retained DNA binding Note=A.T hook 3 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1147_1195 1362 3932 retained Zinc finger Note=CXXC-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00509 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1431_1482 1362 3932 not_retained Zinc finger Note=PHD-type 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00146 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1479_1533 1362 3932 not_retained Zinc finger Note=PHD-type 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00146 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1566_1627 1362 3932 not_retained Zinc finger Note=PHD-type 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00146 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1870_1910 1362 3932 not_retained Zinc finger Note=C2HC pre-PHD-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01146 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1931_1978 1362 3932 not_retained Zinc finger Note=PHD-type 4;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01146 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1584_1600 1362 3932 not_retained Region Note=Interaction with histone H3K4me3;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20677832;Dbxref=PMID:20677832 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 3764_3771 1362 3932 not_retained Region Note=Interaction with WDR5;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18829459;Dbxref=PMID:18829459 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 3906_3907 1362 3932 not_retained Region Note=S-adenosyl-L-methionine binding;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:2W5Y,ECO:0000244|PDB:5F5E,ECO:0000244|PDB:5F6L,ECO:0000269|PubMed:19187761,ECO:0000269|PubMed:26886794;Dbxref=PMID:19187761,PMID:26886794 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 2847_2855 1362 3932 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5SVH Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 17_102 1362 3932 retained Compositional bias Note=Ala/Gly/Ser-rich Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 137_143 1362 3932 retained Compositional bias Note=Poly-Gly Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 561_564 1362 3932 retained Compositional bias Note=Poly-Pro Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 568_571 1362 3932 retained Compositional bias Note=Poly-Pro Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 3909_3909 1362 3932 not_retained Metal binding Note=Zinc;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:2W5Y,ECO:0000244|PDB:2W5Z,ECO:0000244|PDB:5F5E,ECO:0000244|PDB:5F6L,ECO:0000269|PubMed:16990798,ECO:0000269|PubMed:19187761;Dbxref=PMID:16990798,PMID:19187761 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 3957_3957 1362 3932 not_retained Metal binding Note=Zinc;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:2W5Y,ECO:0000244|PDB:2W5Z,ECO:0000244|PDB:5F5E,ECO:0000244|PDB:5F6L,ECO:0000269|PubMed:16990798,ECO:0000269|PubMed:19187761;Dbxref=PMID:16990798,PMID:19187761 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 3959_3959 1362 3932 not_retained Metal binding Note=Zinc;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:2W5Y,ECO:0000244|PDB:2W5Z,ECO:0000244|PDB:5F5E,ECO:0000244|PDB:5F6L,ECO:0000269|PubMed:16990798,ECO:0000269|PubMed:19187761;Dbxref=PMID:16990798,PMID:19187761 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 3964_3964 1362 3932 not_retained Metal binding Note=Zinc;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:2W5Y,ECO:0000244|PDB:2W5Z,ECO:0000244|PDB:5F6L,ECO:0000269|PubMed:16990798,ECO:0000269|PubMed:19187761;Dbxref=PMID:16990798,PMID:19187761 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 3839_3839 1362 3932 not_retained Binding site Note=S-adenosyl-L-methionine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000255,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:2W5Y,ECO:0000244|PDB:5F5E,ECO:0000244|PDB:5F6L,ECO:0000255|PROSITE-ProRule:PRU00190,ECO:0000269|PubMed:19187761,ECO:0000269|PubMed:26886794;Dbxref=PMID:19187761,PMID:26886794 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 3841_3841 1362 3932 not_retained Binding site Note=S-adenosyl-L-methionine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000255,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:2W5Y,ECO:0000244|PDB:5F5E,ECO:0000244|PDB:5F6L,ECO:0000255|PROSITE-ProRule:PRU00190,ECO:0000269|PubMed:19187761,ECO:0000269|PubMed:26886794;Dbxref=PMID:19187761,PMID:26886794 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 3883_3883 1362 3932 not_retained Binding site Note=S-adenosyl-L-methionine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000255,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:2W5Z,ECO:0000244|PDB:5F5E,ECO:0000255|PROSITE-ProRule:PRU00190,ECO:0000269|PubMed:19187761,ECO:0000269|PubMed:26886794;Dbxref=PMID:19187761,PMID:26886794 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 3958_3958 1362 3932 not_retained Binding site Note=S-adenosyl-L-methionine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000255,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:2W5Y,ECO:0000244|PDB:5F5E,ECO:0000244|PDB:5F6L,ECO:0000255|PROSITE-ProRule:PRU00190,ECO:0000269|PubMed:19187761,ECO:0000269|PubMed:26886794;Dbxref=PMID:19187761,PMID:26886794 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1334_1335 1362 3932 retained Site Note=Breakpoint for translocation to form KMT2A-ZFYVE19 oncogene Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1362_1363 1362 3932 retained Site Note=Breakpoint for translocation to form KMT2A-CENPK oncogene Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1362_1363 1362 3932 retained Site Note=Breakpoint for translocation to form KMT2A-CENPK oncogene Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1362_1362 1362 3932 retained Site Note=Breakpoint for translocation to form KMT2A-FRYL fusion protein Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1406_1407 1362 3932 not_retained Site Note=Breakpoint for translocation to form KMT2A-AFF4 fusion protein Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1444_1445 1362 3932 not_retained Site Note=Breakpoint for translocation to form KMT2A-LPP Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1444_1445 1362 3932 not_retained Site Note=Breakpoint for translocation to form KMT2A-LPP Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 2666_2667 1362 3932 not_retained Mutagenesis Note=Reduces cleavage without abolishing it. Abolishes cleavage by TASP1%3B when associated with 2718-A--A-2720. DG->AA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14636557;Dbxref=PMID:14636557 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 2718_2719 1362 3932 not_retained Site Note=Cleavage%3B by TASP1%2C site 2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14636557;Dbxref=PMID:14636557 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 3765_3765 1362 3932 not_retained Site Note=Important for WDR5-recognition and binding;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19556245;Dbxref=PMID:19556245 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 153_153 1362 3932 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:20068231;Dbxref=PMID:18669648,PMID:19690332,PMID:20068231 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 197_197 1362 3932 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231;Dbxref=PMID:18669648,PMID:20068231 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 239_239 1362 3932 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P55200 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 373_373 1362 3932 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P55200 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 518_518 1362 3932 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 636_636 1362 3932 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 680_680 1362 3932 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 840_840 1362 3932 retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 926_926 1362 3932 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:20068231;Dbxref=PMID:20068231 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1056_1056 1362 3932 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1130_1130 1362 3932 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1235_1235 1362 3932 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1837_1837 1362 3932 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1845_1845 1362 3932 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1858_1858 1362 3932 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:19369195,ECO:0000244|PubMed:23186163;Dbxref=PMID:19369195,PMID:23186163 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 2098_2098 1362 3932 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:19690332,PMID:23186163 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 2147_2147 1362 3932 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 2151_2151 1362 3932 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 2201_2201 1362 3932 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:21406692;Dbxref=PMID:21406692 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 2525_2525 1362 3932 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 2611_2611 1362 3932 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 2796_2796 1362 3932 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 2955_2955 1362 3932 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:20068231,PMID:23186163 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 2958_2958 1362 3932 not_retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P55200 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 3036_3036 1362 3932 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 3372_3372 1362 3932 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231;Dbxref=PMID:18669648,PMID:20068231 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 3462_3462 1362 3932 not_retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P55200 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 3511_3511 1362 3932 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 3515_3515 1362 3932 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19690332;Dbxref=PMID:19690332 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 3527_3527 1362 3932 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 2528_2528 1362 3932 not_retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1407_1444 1362 3932 not_retained Alternative sequence ID=VSP_006666;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:7598802;Dbxref=PMID:7598802 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1603_1603 1362 3932 not_retained Alternative sequence ID=VSP_046879;Note=In isoform 3. S->SGTE;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10706619,ECO:0000303|PubMed:1423625;Dbxref=PMID:10706619,PMID:1423625 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 30_30 1362 3932 retained Natural variant ID=VAR_021317;Note=A->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8703835;Dbxref=dbSNP:rs9332745,PMID:8703835 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 53_53 1362 3932 retained Natural variant ID=VAR_021318;Note=A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332747 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 502_502 1362 3932 retained Natural variant ID=VAR_021319;Note=E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332772 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1975_1975 1362 3932 not_retained Natural variant ID=VAR_052652;Note=Q->P;Dbxref=dbSNP:rs693598 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 2319_2319 1362 3932 not_retained Natural variant ID=VAR_021320;Note=S->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332837 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 2354_2354 1362 3932 not_retained Natural variant ID=VAR_021321;Note=P->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332838 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 2387_2387 1362 3932 not_retained Natural variant ID=VAR_021322;Note=Q->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332839 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 3714_3714 1362 3932 not_retained Natural variant ID=VAR_021323;Note=V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332859 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 3773_3773 1362 3932 not_retained Natural variant ID=VAR_021324;Note=S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332861 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1150_1150 1362 3932 retained Mutagenesis Note=Impairs DNA-binding. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20010842;Dbxref=PMID:20010842 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1151_1151 1362 3932 retained Mutagenesis Note=Impairs DNA-binding. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1153_1153 1362 3932 retained Mutagenesis Note=No effect on stability or DNA-binding. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1154_1154 1362 3932 retained Mutagenesis Note=Impairs DNA-binding. R->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16990798,ECO:0000269|PubMed:20010842;Dbxref=PMID:16990798,PMID:20010842 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1155_1155 1362 3932 retained Mutagenesis Note=Abolishes zinc-binding and stability of the CXXC-type zinc finger and causes loss of DNA-binding. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1158_1158 1362 3932 retained Mutagenesis Note=Abolishes zinc-binding and stability of the CXXC-type zinc finger and causes loss of DNA-binding. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1161_1161 1362 3932 retained Mutagenesis Note=Abolishes zinc-binding and stability of the CXXC-type zinc finger and causes loss of DNA-binding. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1162_1162 1362 3932 retained Mutagenesis Note=No effect on stability or DNA-binding. Q->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1166_1166 1362 3932 retained Mutagenesis Note=Abolishes zinc-binding and stability of the CXXC-type zinc finger and causes loss of DNA-binding. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1167_1167 1362 3932 retained Mutagenesis Note=Abolishes zinc-binding and stability of the CXXC-type zinc finger and causes loss of DNA-binding. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1170_1170 1362 3932 retained Mutagenesis Note=Abolishes zinc-binding and stability of the CXXC-type zinc finger and causes loss of DNA-binding. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1172_1172 1362 3932 retained Mutagenesis Note=No effect on stability or DNA-binding. N->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1173_1173 1362 3932 retained Mutagenesis Note=Abolishes zinc-binding and stability of the CXXC-type zinc finger and causes loss of DNA-binding. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1175_1175 1362 3932 retained Mutagenesis Note=Impairs DNA-binding. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1176_1176 1362 3932 retained Mutagenesis Note=Impairs DNA-binding. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1178_1181 1362 3932 retained Mutagenesis Note=Abolishes zinc-binding and stability of the CXXC-type zinc finger and causes loss of DNA-binding. KFGG->AAAA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1178_1178 1362 3932 retained Mutagenesis Note=Impairs DNA-binding. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1179_1179 1362 3932 retained Mutagenesis Note=Impairs DNA-binding. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1183_1183 1362 3932 retained Mutagenesis Note=Impairs DNA-binding. N->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1185_1185 1362 3932 retained Mutagenesis Note=Impairs DNA-binding. K->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16990798,ECO:0000269|PubMed:20010842;Dbxref=PMID:16990798,PMID:20010842 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1186_1186 1362 3932 retained Mutagenesis Note=Impairs DNA-binding. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1187_1187 1362 3932 retained Mutagenesis Note=Impairs DNA-binding. Q->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16990798,ECO:0000269|PubMed:20010842;Dbxref=PMID:16990798,PMID:20010842 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1188_1188 1362 3932 retained Mutagenesis Note=Abolishes DNA-binding and increases CpG methylation of the HOXA9 promoter region. Does not lead to the development of leukemia when overexpressed in mice as gene fusion with MLLT3. C->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20010842;Dbxref=PMID:20010842 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1188_1188 1362 3932 retained Mutagenesis Note=Abolishes DNA-binding and increases CpG methylation of the HOXA9 promoter region. Does not lead to the development of leukemia when overexpressed in mice as gene fusion with MLLT3. C->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20010842;Dbxref=PMID:20010842 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1189_1189 1362 3932 retained Mutagenesis Note=Abolishes zinc-binding and stability of the CXXC-type zinc finger and causes loss of DNA-binding. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1192_1192 1362 3932 retained Mutagenesis Note=Abolishes zinc-binding and stability of the CXXC-type zinc finger and causes loss of DNA-binding. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1193_1193 1362 3932 retained Mutagenesis Note=Impairs DNA-binding. K->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16990798,ECO:0000269|PubMed:20010842;Dbxref=PMID:16990798,PMID:20010842 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1194_1194 1362 3932 retained Mutagenesis Note=Impairs zinc-binding and stability of the CXXC-type zinc finger and causes loss of DNA-binding. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1195_1195 1362 3932 retained Mutagenesis Note=No effect on stability or DNA-binding. Q->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1196_1196 1362 3932 retained Mutagenesis Note=No effect on stability or DNA-binding. N->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1197_1197 1362 3932 retained Mutagenesis Note=Mildly decreases DNA-binding. L->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20010842;Dbxref=PMID:20010842 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1200_1200 1362 3932 retained Mutagenesis Note=No effect on DNA-binding. M->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20010842;Dbxref=PMID:20010842 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1581_1581 1362 3932 not_retained Mutagenesis Note=Decreases affinity for histone H3K4me3. Y->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20541251;Dbxref=PMID:20541251 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1587_1587 1362 3932 not_retained Mutagenesis Note=Decreases affinity for histone H3K4me3. Q->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20541251;Dbxref=PMID:20541251 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1594_1594 1362 3932 not_retained Mutagenesis Note=Decreases affinity for histone H3K4me3. W->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20541251;Dbxref=PMID:20541251 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1594_1594 1362 3932 not_retained Mutagenesis Note=Decreases affinity for histone H3K4me3. W->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20541251;Dbxref=PMID:20541251 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1617_1617 1362 3932 not_retained Mutagenesis Note=Decreases binding affinity for PPIE. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20677832;Dbxref=PMID:20677832 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1619_1619 1362 3932 not_retained Mutagenesis Note=May perturb protein folding and thereby decrease binding affinity for PPIE. Y->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20677832;Dbxref=PMID:20677832 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 2666_2667 1362 3932 not_retained Mutagenesis Note=Reduces cleavage without abolishing it. Abolishes cleavage by TASP1%3B when associated with 2718-A--A-2720. DG->AA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14636557;Dbxref=PMID:14636557 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 2718_2720 1362 3932 not_retained Mutagenesis Note=Abolishes cleavage by TASP1%3B when associated with 2666-A-A-2667. DGV->AAA;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12482972,ECO:0000269|PubMed:14636557;Dbxref=PMID:12482972,PMID:14636557 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 3858_3858 1362 3932 not_retained Mutagenesis Note=Slightly affects methyltransferase activity toward unmodified or monomethylated H3K4me. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19187761;Dbxref=PMID:19187761 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 3858_3858 1362 3932 not_retained Mutagenesis Note=Slightly affects methyltransferase activity toward unmodified or monomethylated H3K4me. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19187761;Dbxref=PMID:19187761 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 3861_3861 1362 3932 not_retained Mutagenesis Note=Leads to stable interaction with ASH2L and RBBP5 in the absence of WDR5%3B when associated with V-3867. N->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26886794;Dbxref=PMID:26886794 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 3861_3861 1362 3932 not_retained Mutagenesis Note=Leads to stable interaction with ASH2L and RBBP5 in the absence of WDR5%3B when associated with V-3867. N->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26886794;Dbxref=PMID:26886794 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 3864_3864 1362 3932 not_retained Mutagenesis Note=Disrupts interaction with ASH2L and RBBP5 and nearly abolishes histone methyltransferase activity. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26886794;Dbxref=PMID:26886794 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 3867_3867 1362 3932 not_retained Mutagenesis Note=Leads to stable interaction with ASH2L and RBBP5 in the absence of WDR5%3B when associated with T-3861. Q->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26886794;Dbxref=PMID:26886794 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 3867_3867 1362 3932 not_retained Mutagenesis Note=Leads to stable interaction with ASH2L and RBBP5 in the absence of WDR5%3B when associated with T-3861. Q->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26886794;Dbxref=PMID:26886794 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 3867_3867 1362 3932 not_retained Mutagenesis Note=Leads to stable interaction with ASH2L and RBBP5 in the absence of WDR5%3B when associated with T-3861. Q->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26886794;Dbxref=PMID:26886794 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 3869_3869 1362 3932 not_retained Mutagenesis Note=Does not affect methyltransferase activity of the enzyme alone or in complex%3B when associated with A-3872. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19187761;Dbxref=PMID:19187761 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 3871_3871 1362 3932 not_retained Mutagenesis Note=Slightly affects methyltransferase activity of the enzyme alone%2C while it impairs methyltransferase activity in complex%3B when associated with A-3867. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19187761;Dbxref=PMID:19187761 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 3872_3872 1362 3932 not_retained Mutagenesis Note=Does not affect methyltransferase activity of the enzyme alone or in complex%3B when associated with A-3869. E->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19187761;Dbxref=PMID:19187761 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 3874_3874 1362 3932 not_retained Mutagenesis Note=Affects methyltransferase activity of the enzyme alone%2C while it does not affect methyltransferase activity in complex%3B when associated with A-3878. Y->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19187761;Dbxref=PMID:19187761 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 3878_3878 1362 3932 not_retained Mutagenesis Note=Affects methyltransferase activity of the enzyme alone%2C while it does not affect methyltransferase activity in complex%3B when associated with A-3874. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19187761;Dbxref=PMID:19187761 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 3906_3906 1362 3932 not_retained Mutagenesis Note=Loss of the histone H3 methyltransferase activity. N->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19556245;Dbxref=PMID:19556245 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 3942_3942 1362 3932 not_retained Mutagenesis Note=Shifts from a specific monomethyltransferase to a di- and trimethyltransferase activity. Y->F;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19187761,ECO:0000269|PubMed:19556245;Dbxref=PMID:19187761,PMID:19556245 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 3942_3942 1362 3932 not_retained Mutagenesis Note=Shifts from a specific monomethyltransferase to a di- and trimethyltransferase activity. Y->F;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19187761,ECO:0000269|PubMed:19556245;Dbxref=PMID:19187761,PMID:19556245 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 144_144 1362 3932 retained Sequence conflict Note=E->ELTTQIPCSWRTKGHIHDKKTEPFRLLAWSWCLN;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 556_556 1362 3932 retained Sequence conflict Note=Q->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 556_556 1362 3932 retained Sequence conflict Note=Q->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1347_1347 1362 3932 retained Sequence conflict Note=V->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1487_1487 1362 3932 not_retained Sequence conflict Note=R->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1490_1490 1362 3932 not_retained Sequence conflict Note=Q->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1507_1507 1362 3932 not_retained Sequence conflict Note=P->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1513_1513 1362 3932 not_retained Sequence conflict Note=N->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1600_1600 1362 3932 not_retained Sequence conflict Note=E->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1616_1616 1362 3932 not_retained Sequence conflict Note=S->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1937_1937 1362 3932 not_retained Sequence conflict Note=Q->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 2181_2181 1362 3932 not_retained Sequence conflict Note=P->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 3556_3556 1362 3932 not_retained Sequence conflict Note=K->N;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 3718_3718 1362 3932 not_retained Sequence conflict Note=R->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 3759_3759 1362 3932 not_retained Sequence conflict Note=N->D;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 3813_3813 1362 3932 not_retained Sequence conflict Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 3901_3901 1362 3932 not_retained Sequence conflict Note=A->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 114_133 1362 3932 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3U88 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 135_138 1362 3932 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MTN Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 150_152 1362 3932 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MSR Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1151_1154 1362 3932 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2J2S Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1156_1158 1362 3932 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NW3 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1159_1162 1362 3932 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NW3 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1168_1170 1362 3932 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NW3 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1171_1175 1362 3932 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NW3 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1177_1179 1362 3932 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NW3 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1183_1185 1362 3932 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2J2S Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1190_1192 1362 3932 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NW3 Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1197_1200 1362 3932 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2J2S Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1204_1206 1362 3932 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2J2S Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1566_1568 1362 3932 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQI Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1570_1572 1362 3932 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1575_1577 1362 3932 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQI Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1578_1582 1362 3932 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2KYU Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1585_1587 1362 3932 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1589_1591 1362 3932 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1594_1596 1362 3932 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1597_1599 1362 3932 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1604_1612 1362 3932 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1614_1617 1362 3932 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1622_1624 1362 3932 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1627_1629 1362 3932 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1631_1652 1362 3932 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1655_1661 1362 3932 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1708_1716 1362 3932 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1723_1740 1362 3932 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1745_1765 1362 3932 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 1771_1773 1362 3932 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 2847_2855 1362 3932 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5SVH Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 3764_3766 1362 3932 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4ESG Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 3796_3799 1362 3932 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2W5Y Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 3809_3811 1362 3932 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2W5Y Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 3816_3820 1362 3932 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 3823_3830 1362 3932 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 3831_3835 1362 3932 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 3837_3847 1362 3932 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 3854_3857 1362 3932 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 3860_3864 1362 3932 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 3865_3867 1362 3932 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 3868_3877 1362 3932 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 3884_3886 1362 3932 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 3888_3894 1362 3932 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 3896_3898 1362 3932 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 3901_3904 1362 3932 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 3912_3920 1362 3932 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 3923_3932 1362 3932 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 8 35 3939_3942 1362 3932 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Hgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000602676 P54368 + 1 6 1_228 48 229 not_retained Chain ID=PRO_0000220849;Note=Ornithine decarboxylase antizyme 1 Hgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000602676 P54368 + 1 6 32_32 48 229 retained Natural variant ID=VAR_022215;Note=R->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.5;Dbxref=dbSNP:rs4667 Hgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000602676 P54368 + 1 6 44_44 48 229 retained Natural variant ID=VAR_022216;Note=G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.5;Dbxref=dbSNP:rs28359762 Hgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000602676 P54368 + 1 6 50_50 48 229 retained Natural variant ID=VAR_022217;Note=S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.5;Dbxref=dbSNP:rs28384673 Hgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000602676 P54368 + 1 6 53_53 48 229 not_retained Natural variant ID=VAR_022218;Note=S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.5;Dbxref=dbSNP:rs2230749 Hgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000602676 P54368 + 1 6 147_147 48 229 not_retained Natural variant ID=VAR_022219;Note=A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.5;Dbxref=dbSNP:rs28384677 Hgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000602676 P54368 + 1 6 69_69 48 229 not_retained Sequence conflict Note=D->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000602676 P54368 + 1 6 96_100 48 229 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4ZGY Hgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000602676 P54368 + 1 6 102_109 48 229 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4ZGY Hgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000602676 P54368 + 1 6 111_120 48 229 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4ZGY Hgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000602676 P54368 + 1 6 128_135 48 229 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4ZGY Hgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000602676 P54368 + 1 6 138_142 48 229 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4ZGY Hgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000602676 P54368 + 1 6 145_147 48 229 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5BWA Hgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000602676 P54368 + 1 6 152_165 48 229 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4ZGY Hgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000602676 P54368 + 1 6 170_179 48 229 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4ZGY Hgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000602676 P54368 + 1 6 183_193 48 229 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4ZGY Hgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000602676 P54368 + 1 6 195_197 48 229 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5BWA Hgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000602676 P54368 + 1 6 211_217 48 229 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4ZGY Hgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000263955 O94768 - 1 8 1_372 -15 373 not_retained Chain ID=PRO_0000086706;Note=Serine/threonine-protein kinase 17B Hgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000263955 O94768 - 1 8 33_293 -15 373 not_retained Domain Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 Hgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000263955 O94768 - 1 8 39_47 -15 373 not_retained Nucleotide binding Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 Hgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000263955 O94768 - 1 8 308_311 -15 373 not_retained Compositional bias Note=Poly-Ser Hgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000263955 O94768 - 1 8 158_158 -15 373 not_retained Active site Note=Proton acceptor;Ontology_term=ECO:0000255,ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159,ECO:0000255|PROSITE-ProRule:PRU10027 Hgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000263955 O94768 - 1 8 62_62 -15 373 not_retained Mutagenesis Note=Loss of activity and of apoptotic function. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9786912;Dbxref=PMID:9786912 Hgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000263955 O94768 - 1 8 320_320 -15 373 not_retained Natural variant ID=VAR_041147;Note=S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs34740616,PMID:17344846 Hgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000263955 O94768 - 1 8 62_62 -15 373 not_retained Mutagenesis Note=Loss of activity and of apoptotic function. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9786912;Dbxref=PMID:9786912 Hgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000263955 O94768 - 1 8 25_31 -15 373 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LM5 Hgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000263955 O94768 - 1 8 32_42 -15 373 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LM5 Hgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000263955 O94768 - 1 8 45_52 -15 373 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LM5 Hgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000263955 O94768 - 1 8 53_55 -15 373 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LM5 Hgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000263955 O94768 - 1 8 58_68 -15 373 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LM5 Hgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000263955 O94768 - 1 8 74_86 -15 373 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LM5 Hgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000263955 O94768 - 1 8 87_89 -15 373 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LM5 Hgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000263955 O94768 - 1 8 96_101 -15 373 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LM5 Hgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000263955 O94768 - 1 8 103_111 -15 373 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LM5 Hgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000263955 O94768 - 1 8 118_122 -15 373 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LM5 Hgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000263955 O94768 - 1 8 124_126 -15 373 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LM0 Hgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000263955 O94768 - 1 8 132_151 -15 373 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LM5 Hgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000263955 O94768 - 1 8 161_163 -15 373 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LM5 Hgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000263955 O94768 - 1 8 164_167 -15 373 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LM5 Hgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000263955 O94768 - 1 8 169_172 -15 373 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LM5 Hgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000263955 O94768 - 1 8 175_177 -15 373 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LM5 Hgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000263955 O94768 - 1 8 180_182 -15 373 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LM5 Hgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000263955 O94768 - 1 8 199_201 -15 373 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LM5 Hgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000263955 O94768 - 1 8 204_207 -15 373 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LM5 Hgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000263955 O94768 - 1 8 215_230 -15 373 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LM5 Hgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000263955 O94768 - 1 8 240_249 -15 373 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LM5 Hgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000263955 O94768 - 1 8 256_261 -15 373 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LM5 Hgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000263955 O94768 - 1 8 264_273 -15 373 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LM5 Hgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000263955 O94768 - 1 8 278_280 -15 373 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LM5 Hgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000263955 O94768 - 1 8 284_287 -15 373 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LM5 Hgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000263955 O94768 - 1 8 291_293 -15 373 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LM5 Hgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000409228 O94768 - 1 8 1_372 -108 373 not_retained Chain ID=PRO_0000086706;Note=Serine/threonine-protein kinase 17B Hgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000409228 O94768 - 1 8 33_293 -108 373 not_retained Domain Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 Hgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000409228 O94768 - 1 8 39_47 -108 373 not_retained Nucleotide binding Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 Hgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000409228 O94768 - 1 8 308_311 -108 373 not_retained Compositional bias Note=Poly-Ser Hgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000409228 O94768 - 1 8 158_158 -108 373 not_retained Active site Note=Proton acceptor;Ontology_term=ECO:0000255,ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159,ECO:0000255|PROSITE-ProRule:PRU10027 Hgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000409228 O94768 - 1 8 62_62 -108 373 not_retained Mutagenesis Note=Loss of activity and of apoptotic function. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9786912;Dbxref=PMID:9786912 Hgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000409228 O94768 - 1 8 320_320 -108 373 not_retained Natural variant ID=VAR_041147;Note=S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs34740616,PMID:17344846 Hgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000409228 O94768 - 1 8 62_62 -108 373 not_retained Mutagenesis Note=Loss of activity and of apoptotic function. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9786912;Dbxref=PMID:9786912 Hgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000409228 O94768 - 1 8 25_31 -108 373 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LM5 Hgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000409228 O94768 - 1 8 32_42 -108 373 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LM5 Hgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000409228 O94768 - 1 8 45_52 -108 373 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LM5 Hgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000409228 O94768 - 1 8 53_55 -108 373 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LM5 Hgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000409228 O94768 - 1 8 58_68 -108 373 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LM5 Hgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000409228 O94768 - 1 8 74_86 -108 373 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LM5 Hgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000409228 O94768 - 1 8 87_89 -108 373 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LM5 Hgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000409228 O94768 - 1 8 96_101 -108 373 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LM5 Hgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000409228 O94768 - 1 8 103_111 -108 373 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LM5 Hgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000409228 O94768 - 1 8 118_122 -108 373 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LM5 Hgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000409228 O94768 - 1 8 124_126 -108 373 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LM0 Hgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000409228 O94768 - 1 8 132_151 -108 373 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LM5 Hgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000409228 O94768 - 1 8 161_163 -108 373 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LM5 Hgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000409228 O94768 - 1 8 164_167 -108 373 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LM5 Hgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000409228 O94768 - 1 8 169_172 -108 373 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LM5 Hgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000409228 O94768 - 1 8 175_177 -108 373 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LM5 Hgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000409228 O94768 - 1 8 180_182 -108 373 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LM5 Hgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000409228 O94768 - 1 8 199_201 -108 373 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LM5 Hgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000409228 O94768 - 1 8 204_207 -108 373 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LM5 Hgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000409228 O94768 - 1 8 215_230 -108 373 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LM5 Hgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000409228 O94768 - 1 8 240_249 -108 373 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LM5 Hgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000409228 O94768 - 1 8 256_261 -108 373 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LM5 Hgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000409228 O94768 - 1 8 264_273 -108 373 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LM5 Hgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000409228 O94768 - 1 8 278_280 -108 373 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LM5 Hgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000409228 O94768 - 1 8 284_287 -108 373 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LM5 Hgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000409228 O94768 - 1 8 291_293 -108 373 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LM5 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368226 Q15262 - 1 30 1_26 33 1441 retained Signal peptide Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368226 Q15262 - 1 30 27_1439 33 1441 not_retained Chain ID=PRO_0000025446;Note=Receptor-type tyrosine-protein phosphatase kappa Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368226 Q15262 - 1 30 27_752 33 1441 not_retained Topological domain Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368226 Q15262 - 1 30 753_774 33 1441 not_retained Transmembrane Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368226 Q15262 - 1 30 775_1439 33 1441 not_retained Topological domain Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368226 Q15262 - 1 30 31_194 33 1441 not_retained Domain Note=MAM;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00128 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368226 Q15262 - 1 30 196_281 33 1441 not_retained Domain Note=Ig-like C2-type Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368226 Q15262 - 1 30 294_389 33 1441 not_retained Domain Note=Fibronectin type-III 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368226 Q15262 - 1 30 392_488 33 1441 not_retained Domain Note=Fibronectin type-III 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368226 Q15262 - 1 30 491_595 33 1441 not_retained Domain Note=Fibronectin type-III 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368226 Q15262 - 1 30 597_680 33 1441 not_retained Domain Note=Fibronectin type-III 4;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368226 Q15262 - 1 30 887_1141 33 1441 not_retained Domain Note=Tyrosine-protein phosphatase 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00160 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368226 Q15262 - 1 30 1173_1435 33 1441 not_retained Domain Note=Tyrosine-protein phosphatase 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00160 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368226 Q15262 - 1 30 1082_1088 33 1441 not_retained Region Note=Substrate binding;Ontology_term=ECO:0000250;evidence=ECO:0000250 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368226 Q15262 - 1 30 1082_1082 33 1441 not_retained Active site Note=Phosphocysteine intermediate;Ontology_term=ECO:0000250;evidence=ECO:0000250 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368226 Q15262 - 1 30 1376_1376 33 1441 not_retained Active site Note=Phosphocysteine intermediate;Ontology_term=ECO:0000250;evidence=ECO:0000250 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368226 Q15262 - 1 30 1050_1050 33 1441 not_retained Binding site Note=Substrate;Ontology_term=ECO:0000250;evidence=ECO:0000250 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368226 Q15262 - 1 30 1126_1126 33 1441 not_retained Binding site Note=Substrate;Ontology_term=ECO:0000250;evidence=ECO:0000250 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368226 Q15262 - 1 30 643_644 33 1441 not_retained Site Note=Cleavage;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368226 Q15262 - 1 30 856_856 33 1441 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P35822 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368226 Q15262 - 1 30 101_101 33 1441 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368226 Q15262 - 1 30 140_140 33 1441 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368226 Q15262 - 1 30 211_211 33 1441 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368226 Q15262 - 1 30 416_416 33 1441 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19159218,ECO:0000269|PubMed:19349973;Dbxref=PMID:19159218,PMID:19349973 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368226 Q15262 - 1 30 424_424 33 1441 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368226 Q15262 - 1 30 436_436 33 1441 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368226 Q15262 - 1 30 462_462 33 1441 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368226 Q15262 - 1 30 552_552 33 1441 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368226 Q15262 - 1 30 586_586 33 1441 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368226 Q15262 - 1 30 590_590 33 1441 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368226 Q15262 - 1 30 607_607 33 1441 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368226 Q15262 - 1 30 690_690 33 1441 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368226 Q15262 - 1 30 216_270 33 1441 not_retained Disulfide bond Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00114 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368226 Q15262 - 1 30 732_732 33 1441 not_retained Alternative sequence ID=VSP_024819;Note=In isoform 2%2C isoform 3 and isoform 4. A->AA;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:9047348;Dbxref=PMID:15489334,PMID:9047348 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368226 Q15262 - 1 30 831_831 33 1441 not_retained Alternative sequence ID=VSP_054480;Note=In isoform 4. Y->LPNDPLVPTAVLVPITD;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368226 Q15262 - 1 30 946_946 33 1441 not_retained Alternative sequence ID=VSP_042049;Note=In isoform 3 and isoform 4. I->IDIWLYR;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368226 Q15262 - 1 30 9_9 33 1441 retained Sequence conflict Note=L->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368226 Q15262 - 1 30 158_158 33 1441 not_retained Sequence conflict Note=T->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368226 Q15262 - 1 30 284_284 33 1441 not_retained Sequence conflict Note=A->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368226 Q15262 - 1 30 422_422 33 1441 not_retained Sequence conflict Note=T->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368226 Q15262 - 1 30 672_674 33 1441 not_retained Sequence conflict Note=AEL->CRT;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368226 Q15262 - 1 30 715_715 33 1441 not_retained Sequence conflict Note=S->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368226 Q15262 - 1 30 1366_1366 33 1441 not_retained Sequence conflict Note=E->K;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368226 Q15262 - 1 30 869_871 33 1441 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C7S Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368226 Q15262 - 1 30 872_879 33 1441 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C7S Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368226 Q15262 - 1 30 883_885 33 1441 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C7S Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368226 Q15262 - 1 30 887_892 33 1441 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C7S Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368226 Q15262 - 1 30 903_906 33 1441 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C7S Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368226 Q15262 - 1 30 908_913 33 1441 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C7S Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368226 Q15262 - 1 30 923_925 33 1441 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C7S Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368226 Q15262 - 1 30 936_939 33 1441 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C7S Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368226 Q15262 - 1 30 942_948 33 1441 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C7S Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368226 Q15262 - 1 30 951_958 33 1441 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C7S Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368226 Q15262 - 1 30 963_965 33 1441 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C7S Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368226 Q15262 - 1 30 966_976 33 1441 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C7S Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368226 Q15262 - 1 30 980_983 33 1441 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C7S Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368226 Q15262 - 1 30 987_989 33 1441 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C7S Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368226 Q15262 - 1 30 1001_1006 33 1441 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C7S Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368226 Q15262 - 1 30 1009_1018 33 1441 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C7S Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368226 Q15262 - 1 30 1020_1031 33 1441 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C7S Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368226 Q15262 - 1 30 1038_1045 33 1441 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C7S Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368226 Q15262 - 1 30 1050_1053 33 1441 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C7S Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368226 Q15262 - 1 30 1058_1070 33 1441 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C7S Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368226 Q15262 - 1 30 1078_1081 33 1441 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C7S Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368226 Q15262 - 1 30 1083_1086 33 1441 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C7S Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368226 Q15262 - 1 30 1087_1105 33 1441 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C7S Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368226 Q15262 - 1 30 1106_1108 33 1441 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C7S Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368226 Q15262 - 1 30 1110_1120 33 1441 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C7S Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368226 Q15262 - 1 30 1128_1144 33 1441 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C7S Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368226 Q15262 - 1 30 1150_1153 33 1441 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C7S Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368213 Q15262 - 1 31 1_26 33 1447 retained Signal peptide Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368213 Q15262 - 1 31 27_1439 33 1447 not_retained Chain ID=PRO_0000025446;Note=Receptor-type tyrosine-protein phosphatase kappa Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368213 Q15262 - 1 31 27_752 33 1447 not_retained Topological domain Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368213 Q15262 - 1 31 753_774 33 1447 not_retained Transmembrane Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368213 Q15262 - 1 31 775_1439 33 1447 not_retained Topological domain Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368213 Q15262 - 1 31 31_194 33 1447 not_retained Domain Note=MAM;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00128 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368213 Q15262 - 1 31 196_281 33 1447 not_retained Domain Note=Ig-like C2-type Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368213 Q15262 - 1 31 294_389 33 1447 not_retained Domain Note=Fibronectin type-III 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368213 Q15262 - 1 31 392_488 33 1447 not_retained Domain Note=Fibronectin type-III 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368213 Q15262 - 1 31 491_595 33 1447 not_retained Domain Note=Fibronectin type-III 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368213 Q15262 - 1 31 597_680 33 1447 not_retained Domain Note=Fibronectin type-III 4;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368213 Q15262 - 1 31 887_1141 33 1447 not_retained Domain Note=Tyrosine-protein phosphatase 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00160 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368213 Q15262 - 1 31 1173_1435 33 1447 not_retained Domain Note=Tyrosine-protein phosphatase 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00160 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368213 Q15262 - 1 31 1082_1088 33 1447 not_retained Region Note=Substrate binding;Ontology_term=ECO:0000250;evidence=ECO:0000250 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368213 Q15262 - 1 31 1082_1082 33 1447 not_retained Active site Note=Phosphocysteine intermediate;Ontology_term=ECO:0000250;evidence=ECO:0000250 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368213 Q15262 - 1 31 1376_1376 33 1447 not_retained Active site Note=Phosphocysteine intermediate;Ontology_term=ECO:0000250;evidence=ECO:0000250 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368213 Q15262 - 1 31 1050_1050 33 1447 not_retained Binding site Note=Substrate;Ontology_term=ECO:0000250;evidence=ECO:0000250 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368213 Q15262 - 1 31 1126_1126 33 1447 not_retained Binding site Note=Substrate;Ontology_term=ECO:0000250;evidence=ECO:0000250 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368213 Q15262 - 1 31 643_644 33 1447 not_retained Site Note=Cleavage;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368213 Q15262 - 1 31 856_856 33 1447 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P35822 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368213 Q15262 - 1 31 101_101 33 1447 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368213 Q15262 - 1 31 140_140 33 1447 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368213 Q15262 - 1 31 211_211 33 1447 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368213 Q15262 - 1 31 416_416 33 1447 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19159218,ECO:0000269|PubMed:19349973;Dbxref=PMID:19159218,PMID:19349973 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368213 Q15262 - 1 31 424_424 33 1447 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368213 Q15262 - 1 31 436_436 33 1447 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368213 Q15262 - 1 31 462_462 33 1447 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368213 Q15262 - 1 31 552_552 33 1447 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368213 Q15262 - 1 31 586_586 33 1447 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368213 Q15262 - 1 31 590_590 33 1447 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368213 Q15262 - 1 31 607_607 33 1447 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368213 Q15262 - 1 31 690_690 33 1447 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368213 Q15262 - 1 31 216_270 33 1447 not_retained Disulfide bond Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00114 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368213 Q15262 - 1 31 732_732 33 1447 not_retained Alternative sequence ID=VSP_024819;Note=In isoform 2%2C isoform 3 and isoform 4. A->AA;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:9047348;Dbxref=PMID:15489334,PMID:9047348 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368213 Q15262 - 1 31 831_831 33 1447 not_retained Alternative sequence ID=VSP_054480;Note=In isoform 4. Y->LPNDPLVPTAVLVPITD;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368213 Q15262 - 1 31 946_946 33 1447 not_retained Alternative sequence ID=VSP_042049;Note=In isoform 3 and isoform 4. I->IDIWLYR;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368213 Q15262 - 1 31 9_9 33 1447 retained Sequence conflict Note=L->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368213 Q15262 - 1 31 158_158 33 1447 not_retained Sequence conflict Note=T->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368213 Q15262 - 1 31 284_284 33 1447 not_retained Sequence conflict Note=A->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368213 Q15262 - 1 31 422_422 33 1447 not_retained Sequence conflict Note=T->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368213 Q15262 - 1 31 672_674 33 1447 not_retained Sequence conflict Note=AEL->CRT;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368213 Q15262 - 1 31 715_715 33 1447 not_retained Sequence conflict Note=S->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368213 Q15262 - 1 31 1366_1366 33 1447 not_retained Sequence conflict Note=E->K;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368213 Q15262 - 1 31 869_871 33 1447 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C7S Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368213 Q15262 - 1 31 872_879 33 1447 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C7S Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368213 Q15262 - 1 31 883_885 33 1447 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C7S Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368213 Q15262 - 1 31 887_892 33 1447 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C7S Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368213 Q15262 - 1 31 903_906 33 1447 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C7S Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368213 Q15262 - 1 31 908_913 33 1447 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C7S Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368213 Q15262 - 1 31 923_925 33 1447 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C7S Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368213 Q15262 - 1 31 936_939 33 1447 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C7S Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368213 Q15262 - 1 31 942_948 33 1447 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C7S Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368213 Q15262 - 1 31 951_958 33 1447 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C7S Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368213 Q15262 - 1 31 963_965 33 1447 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C7S Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368213 Q15262 - 1 31 966_976 33 1447 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C7S Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368213 Q15262 - 1 31 980_983 33 1447 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C7S Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368213 Q15262 - 1 31 987_989 33 1447 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C7S Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368213 Q15262 - 1 31 1001_1006 33 1447 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C7S Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368213 Q15262 - 1 31 1009_1018 33 1447 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C7S Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368213 Q15262 - 1 31 1020_1031 33 1447 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C7S Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368213 Q15262 - 1 31 1038_1045 33 1447 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C7S Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368213 Q15262 - 1 31 1050_1053 33 1447 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C7S Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368213 Q15262 - 1 31 1058_1070 33 1447 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C7S Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368213 Q15262 - 1 31 1078_1081 33 1447 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C7S Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368213 Q15262 - 1 31 1083_1086 33 1447 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C7S Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368213 Q15262 - 1 31 1087_1105 33 1447 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C7S Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368213 Q15262 - 1 31 1106_1108 33 1447 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C7S Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368213 Q15262 - 1 31 1110_1120 33 1447 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C7S Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368213 Q15262 - 1 31 1128_1144 33 1447 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C7S Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368213 Q15262 - 1 31 1150_1153 33 1447 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C7S Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368215 Q15262 - 1 30 1_26 33 1440 retained Signal peptide Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368215 Q15262 - 1 30 27_1439 33 1440 not_retained Chain ID=PRO_0000025446;Note=Receptor-type tyrosine-protein phosphatase kappa Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368215 Q15262 - 1 30 27_752 33 1440 not_retained Topological domain Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368215 Q15262 - 1 30 753_774 33 1440 not_retained Transmembrane Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368215 Q15262 - 1 30 775_1439 33 1440 not_retained Topological domain Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368215 Q15262 - 1 30 31_194 33 1440 not_retained Domain Note=MAM;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00128 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368215 Q15262 - 1 30 196_281 33 1440 not_retained Domain Note=Ig-like C2-type Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368215 Q15262 - 1 30 294_389 33 1440 not_retained Domain Note=Fibronectin type-III 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368215 Q15262 - 1 30 392_488 33 1440 not_retained Domain Note=Fibronectin type-III 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368215 Q15262 - 1 30 491_595 33 1440 not_retained Domain Note=Fibronectin type-III 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368215 Q15262 - 1 30 597_680 33 1440 not_retained Domain Note=Fibronectin type-III 4;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368215 Q15262 - 1 30 887_1141 33 1440 not_retained Domain Note=Tyrosine-protein phosphatase 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00160 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368215 Q15262 - 1 30 1173_1435 33 1440 not_retained Domain Note=Tyrosine-protein phosphatase 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00160 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368215 Q15262 - 1 30 1082_1088 33 1440 not_retained Region Note=Substrate binding;Ontology_term=ECO:0000250;evidence=ECO:0000250 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368215 Q15262 - 1 30 1082_1082 33 1440 not_retained Active site Note=Phosphocysteine intermediate;Ontology_term=ECO:0000250;evidence=ECO:0000250 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368215 Q15262 - 1 30 1376_1376 33 1440 not_retained Active site Note=Phosphocysteine intermediate;Ontology_term=ECO:0000250;evidence=ECO:0000250 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368215 Q15262 - 1 30 1050_1050 33 1440 not_retained Binding site Note=Substrate;Ontology_term=ECO:0000250;evidence=ECO:0000250 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368215 Q15262 - 1 30 1126_1126 33 1440 not_retained Binding site Note=Substrate;Ontology_term=ECO:0000250;evidence=ECO:0000250 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368215 Q15262 - 1 30 643_644 33 1440 not_retained Site Note=Cleavage;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368215 Q15262 - 1 30 856_856 33 1440 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P35822 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368215 Q15262 - 1 30 101_101 33 1440 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368215 Q15262 - 1 30 140_140 33 1440 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368215 Q15262 - 1 30 211_211 33 1440 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368215 Q15262 - 1 30 416_416 33 1440 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19159218,ECO:0000269|PubMed:19349973;Dbxref=PMID:19159218,PMID:19349973 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368215 Q15262 - 1 30 424_424 33 1440 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368215 Q15262 - 1 30 436_436 33 1440 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368215 Q15262 - 1 30 462_462 33 1440 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368215 Q15262 - 1 30 552_552 33 1440 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368215 Q15262 - 1 30 586_586 33 1440 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368215 Q15262 - 1 30 590_590 33 1440 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368215 Q15262 - 1 30 607_607 33 1440 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368215 Q15262 - 1 30 690_690 33 1440 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368215 Q15262 - 1 30 216_270 33 1440 not_retained Disulfide bond Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00114 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368215 Q15262 - 1 30 732_732 33 1440 not_retained Alternative sequence ID=VSP_024819;Note=In isoform 2%2C isoform 3 and isoform 4. A->AA;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:9047348;Dbxref=PMID:15489334,PMID:9047348 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368215 Q15262 - 1 30 831_831 33 1440 not_retained Alternative sequence ID=VSP_054480;Note=In isoform 4. Y->LPNDPLVPTAVLVPITD;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368215 Q15262 - 1 30 946_946 33 1440 not_retained Alternative sequence ID=VSP_042049;Note=In isoform 3 and isoform 4. I->IDIWLYR;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368215 Q15262 - 1 30 9_9 33 1440 retained Sequence conflict Note=L->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368215 Q15262 - 1 30 158_158 33 1440 not_retained Sequence conflict Note=T->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368215 Q15262 - 1 30 284_284 33 1440 not_retained Sequence conflict Note=A->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368215 Q15262 - 1 30 422_422 33 1440 not_retained Sequence conflict Note=T->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368215 Q15262 - 1 30 672_674 33 1440 not_retained Sequence conflict Note=AEL->CRT;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368215 Q15262 - 1 30 715_715 33 1440 not_retained Sequence conflict Note=S->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368215 Q15262 - 1 30 1366_1366 33 1440 not_retained Sequence conflict Note=E->K;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368215 Q15262 - 1 30 869_871 33 1440 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C7S Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368215 Q15262 - 1 30 872_879 33 1440 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C7S Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368215 Q15262 - 1 30 883_885 33 1440 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C7S Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368215 Q15262 - 1 30 887_892 33 1440 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C7S Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368215 Q15262 - 1 30 903_906 33 1440 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C7S Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368215 Q15262 - 1 30 908_913 33 1440 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C7S Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368215 Q15262 - 1 30 923_925 33 1440 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C7S Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368215 Q15262 - 1 30 936_939 33 1440 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C7S Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368215 Q15262 - 1 30 942_948 33 1440 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C7S Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368215 Q15262 - 1 30 951_958 33 1440 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C7S Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368215 Q15262 - 1 30 963_965 33 1440 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C7S Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368215 Q15262 - 1 30 966_976 33 1440 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C7S Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368215 Q15262 - 1 30 980_983 33 1440 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C7S Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368215 Q15262 - 1 30 987_989 33 1440 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C7S Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368215 Q15262 - 1 30 1001_1006 33 1440 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C7S Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368215 Q15262 - 1 30 1009_1018 33 1440 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C7S Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368215 Q15262 - 1 30 1020_1031 33 1440 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C7S Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368215 Q15262 - 1 30 1038_1045 33 1440 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C7S Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368215 Q15262 - 1 30 1050_1053 33 1440 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C7S Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368215 Q15262 - 1 30 1058_1070 33 1440 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C7S Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368215 Q15262 - 1 30 1078_1081 33 1440 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C7S Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368215 Q15262 - 1 30 1083_1086 33 1440 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C7S Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368215 Q15262 - 1 30 1087_1105 33 1440 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C7S Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368215 Q15262 - 1 30 1106_1108 33 1440 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C7S Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368215 Q15262 - 1 30 1110_1120 33 1440 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C7S Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368215 Q15262 - 1 30 1128_1144 33 1440 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C7S Hgene Frame-shift DA380160 ChiTaRS PTPRK chr6:128841403 PKP2 chr12:33031970 ENST00000368215 Q15262 - 1 30 1150_1153 33 1440 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2C7S Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000372004 Q9Y6Q9 + 1 23 1_1 -33 1421 not_retained Initiator methionine Note=Removed;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:22814378;Dbxref=PMID:22814378 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000372004 Q9Y6Q9 + 1 23 2_1424 -33 1421 not_retained Chain ID=PRO_0000094406;Note=Nuclear receptor coactivator 3 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000372004 Q9Y6Q9 + 1 23 25_82 -33 1421 not_retained Domain Note=bHLH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00981 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000372004 Q9Y6Q9 + 1 23 110_180 -33 1421 not_retained Domain Note=PAS;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00140 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000372004 Q9Y6Q9 + 1 23 1023_1093 -33 1421 not_retained Region Note=Interaction with CREBBP;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9346901;Dbxref=PMID:9346901 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000372004 Q9Y6Q9 + 1 23 1097_1304 -33 1421 not_retained Region Note=Acetyltransferase Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000372004 Q9Y6Q9 + 1 23 685_689 -33 1421 not_retained Motif Note=LXXLL motif 1 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000372004 Q9Y6Q9 + 1 23 738_742 -33 1421 not_retained Motif Note=LXXLL motif 2 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000372004 Q9Y6Q9 + 1 23 1057_1061 -33 1421 not_retained Motif Note=LXXLL motif 3 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000372004 Q9Y6Q9 + 1 23 505_671 -33 1421 not_retained Compositional bias Note=Ser-rich Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000372004 Q9Y6Q9 + 1 23 976_980 -33 1421 not_retained Compositional bias Note=Poly-Gln Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000372004 Q9Y6Q9 + 1 23 1248_1278 -33 1421 not_retained Compositional bias Note=Poly-Gln Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000372004 Q9Y6Q9 + 1 23 1392_1417 -33 1421 not_retained Compositional bias Note=Met-rich Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000372004 Q9Y6Q9 + 1 23 2_2 -33 1421 not_retained Modified residue Note=N-acetylserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:22814378;Dbxref=PMID:22814378 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000372004 Q9Y6Q9 + 1 23 214_214 -33 1421 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:20068231,PMID:23186163 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000372004 Q9Y6Q9 + 1 23 551_551 -33 1421 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:18669648,PMID:23186163,PMID:24275569 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000372004 Q9Y6Q9 + 1 23 569_569 -33 1421 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O09000 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000372004 Q9Y6Q9 + 1 23 601_601 -33 1421 not_retained Modified residue Note=Phosphoserine%3B by CK1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19339517;Dbxref=PMID:19339517 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000372004 Q9Y6Q9 + 1 23 616_616 -33 1421 not_retained Mutagenesis Note=Strongly reduces acetylation by CREBBP. K->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10490106;Dbxref=PMID:10490106 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000372004 Q9Y6Q9 + 1 23 619_619 -33 1421 not_retained Modified residue Note=N6-acetyllysine%3B by CREBBP;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10490106;Dbxref=PMID:10490106 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000372004 Q9Y6Q9 + 1 23 620_620 -33 1421 not_retained Modified residue Note=N6-acetyllysine%3B by CREBBP;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10490106;Dbxref=PMID:10490106 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000372004 Q9Y6Q9 + 1 23 687_687 -33 1421 not_retained Mutagenesis Note=Does not affect acetylation by CREBBP. K->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10490106;Dbxref=PMID:10490106 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000372004 Q9Y6Q9 + 1 23 694_694 -33 1421 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000372004 Q9Y6Q9 + 1 23 728_728 -33 1421 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000372004 Q9Y6Q9 + 1 23 857_857 -33 1421 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:16964243,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:16964243,PMID:18669648,PMID:19690332,PMID:20068231,PMID:23186163 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000372004 Q9Y6Q9 + 1 23 860_860 -33 1421 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O09000 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000372004 Q9Y6Q9 + 1 23 867_867 -33 1421 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:16964243,ECO:0000244|PubMed:20068231;Dbxref=PMID:16964243,PMID:20068231 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000372004 Q9Y6Q9 + 1 23 1033_1033 -33 1421 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000372004 Q9Y6Q9 + 1 23 1171_1171 -33 1421 not_retained Modified residue Note=Asymmetric dimethylarginine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24129315;Dbxref=PMID:24129315 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000372004 Q9Y6Q9 + 1 23 1177_1177 -33 1421 not_retained Modified residue Note=Asymmetric dimethylarginine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24129315;Dbxref=PMID:24129315 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000372004 Q9Y6Q9 + 1 23 1188_1188 -33 1421 not_retained Modified residue Note=Asymmetric dimethylarginine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24129315;Dbxref=PMID:24129315 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000372004 Q9Y6Q9 + 1 23 1330_1330 -33 1421 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000372004 Q9Y6Q9 + 1 23 321_321 -33 1421 not_retained Alternative sequence ID=VSP_003405;Note=In isoform 3 and isoform 4. E->EVTSDGIFSPT;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9267036;Dbxref=PMID:9267036 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000372004 Q9Y6Q9 + 1 23 837_901 -33 1421 not_retained Alternative sequence ID=VSP_003406;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9267036;Dbxref=PMID:9267036 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000372004 Q9Y6Q9 + 1 23 903_917 -33 1421 not_retained Alternative sequence ID=VSP_003407;Note=In isoform 2%2C isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:9267036,ECO:0000303|PubMed:9346901;Dbxref=PMID:9267036,PMID:9346901 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000372004 Q9Y6Q9 + 1 23 1214_1217 -33 1421 not_retained Alternative sequence ID=VSP_003408;Note=In isoform 3%2C isoform 4 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:9238002,ECO:0000303|PubMed:9252329,ECO:0000303|PubMed:9267036;Dbxref=PMID:15489334,PMID:9238002,PMID:9252329,PMID:9267036 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000372004 Q9Y6Q9 + 1 23 218_218 -33 1421 not_retained Natural variant ID=VAR_053527;Note=R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.5;Dbxref=dbSNP:rs6094752 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000372004 Q9Y6Q9 + 1 23 220_220 -33 1421 not_retained Natural variant ID=VAR_060695;Note=R->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.5;Dbxref=dbSNP:rs72645252 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000372004 Q9Y6Q9 + 1 23 369_369 -33 1421 not_retained Natural variant ID=VAR_053528;Note=L->F;Dbxref=dbSNP:rs6094756 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000372004 Q9Y6Q9 + 1 23 460_460 -33 1421 not_retained Natural variant ID=VAR_013831;Note=G->R;Dbxref=dbSNP:rs1052765 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000372004 Q9Y6Q9 + 1 23 556_556 -33 1421 not_retained Natural variant ID=VAR_060696;Note=I->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.5;Dbxref=dbSNP:rs72645272 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000372004 Q9Y6Q9 + 1 23 559_559 -33 1421 not_retained Natural variant ID=VAR_013832;Note=P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.5;Dbxref=dbSNP:rs2230781 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000372004 Q9Y6Q9 + 1 23 586_586 -33 1421 not_retained Natural variant ID=VAR_013833;Note=Q->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.5;Dbxref=dbSNP:rs2230782 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000372004 Q9Y6Q9 + 1 23 777_777 -33 1421 not_retained Natural variant ID=VAR_053529;Note=S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.5;Dbxref=dbSNP:rs2230783 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000372004 Q9Y6Q9 + 1 23 1247_1247 -33 1421 not_retained Natural variant ID=VAR_060698;Note=M->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.5;Dbxref=dbSNP:rs72645298 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000372004 Q9Y6Q9 + 1 23 1247_1247 -33 1421 not_retained Natural variant ID=VAR_060698;Note=M->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.5;Dbxref=dbSNP:rs72645298 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000372004 Q9Y6Q9 + 1 23 1248_1250 -33 1421 not_retained Natural variant ID=VAR_013834;Note=Missing;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:9238002,ECO:0000269|PubMed:9267036;Dbxref=PMID:9238002,PMID:9267036 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000372004 Q9Y6Q9 + 1 23 616_616 -33 1421 not_retained Mutagenesis Note=Strongly reduces acetylation by CREBBP. K->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10490106;Dbxref=PMID:10490106 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000372004 Q9Y6Q9 + 1 23 619_620 -33 1421 not_retained Mutagenesis Note=Abolishes acetylation by CREBBP. KK->QQ;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10490106;Dbxref=PMID:10490106 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000372004 Q9Y6Q9 + 1 23 647_647 -33 1421 not_retained Mutagenesis Note=Does not affect acetylation by CREBBP. K->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10490106;Dbxref=PMID:10490106 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000372004 Q9Y6Q9 + 1 23 681_681 -33 1421 not_retained Mutagenesis Note=Does not affect acetylation by CREBBP. K->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10490106;Dbxref=PMID:10490106 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000372004 Q9Y6Q9 + 1 23 687_687 -33 1421 not_retained Mutagenesis Note=Does not affect acetylation by CREBBP. K->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10490106;Dbxref=PMID:10490106 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000372004 Q9Y6Q9 + 1 23 700_700 -33 1421 not_retained Mutagenesis Note=Does not affect acetylation by CREBBP. K->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10490106;Dbxref=PMID:10490106 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000372004 Q9Y6Q9 + 1 23 708_708 -33 1421 not_retained Mutagenesis Note=Does not affect acetylation by CREBBP. K->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10490106;Dbxref=PMID:10490106 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000372004 Q9Y6Q9 + 1 23 131_132 -33 1421 not_retained Sequence conflict Note=DG->EA;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000372004 Q9Y6Q9 + 1 23 619_626 -33 1421 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3L3X Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000372004 Q9Y6Q9 + 1 23 736_743 -33 1421 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3L3Z Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000372004 Q9Y6Q9 + 1 23 1049_1060 -33 1421 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1KBH Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000372004 Q9Y6Q9 + 1 23 1069_1075 -33 1421 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1KBH Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000372004 Q9Y6Q9 + 1 23 1078_1084 -33 1421 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1KBH Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000372004 Q9Y6Q9 + 1 23 1086_1088 -33 1421 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1KBH Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371998 Q9Y6Q9 + 1 23 1_1 -33 1425 not_retained Initiator methionine Note=Removed;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:22814378;Dbxref=PMID:22814378 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371998 Q9Y6Q9 + 1 23 2_1424 -33 1425 not_retained Chain ID=PRO_0000094406;Note=Nuclear receptor coactivator 3 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371998 Q9Y6Q9 + 1 23 25_82 -33 1425 not_retained Domain Note=bHLH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00981 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371998 Q9Y6Q9 + 1 23 110_180 -33 1425 not_retained Domain Note=PAS;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00140 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371998 Q9Y6Q9 + 1 23 1023_1093 -33 1425 not_retained Region Note=Interaction with CREBBP;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9346901;Dbxref=PMID:9346901 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371998 Q9Y6Q9 + 1 23 1097_1304 -33 1425 not_retained Region Note=Acetyltransferase Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371998 Q9Y6Q9 + 1 23 685_689 -33 1425 not_retained Motif Note=LXXLL motif 1 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371998 Q9Y6Q9 + 1 23 738_742 -33 1425 not_retained Motif Note=LXXLL motif 2 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371998 Q9Y6Q9 + 1 23 1057_1061 -33 1425 not_retained Motif Note=LXXLL motif 3 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371998 Q9Y6Q9 + 1 23 505_671 -33 1425 not_retained Compositional bias Note=Ser-rich Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371998 Q9Y6Q9 + 1 23 976_980 -33 1425 not_retained Compositional bias Note=Poly-Gln Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371998 Q9Y6Q9 + 1 23 1248_1278 -33 1425 not_retained Compositional bias Note=Poly-Gln Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371998 Q9Y6Q9 + 1 23 1392_1417 -33 1425 not_retained Compositional bias Note=Met-rich Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371998 Q9Y6Q9 + 1 23 2_2 -33 1425 not_retained Modified residue Note=N-acetylserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:22814378;Dbxref=PMID:22814378 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371998 Q9Y6Q9 + 1 23 214_214 -33 1425 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:20068231,PMID:23186163 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371998 Q9Y6Q9 + 1 23 551_551 -33 1425 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:18669648,PMID:23186163,PMID:24275569 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371998 Q9Y6Q9 + 1 23 569_569 -33 1425 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O09000 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371998 Q9Y6Q9 + 1 23 601_601 -33 1425 not_retained Modified residue Note=Phosphoserine%3B by CK1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19339517;Dbxref=PMID:19339517 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371998 Q9Y6Q9 + 1 23 616_616 -33 1425 not_retained Mutagenesis Note=Strongly reduces acetylation by CREBBP. K->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10490106;Dbxref=PMID:10490106 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371998 Q9Y6Q9 + 1 23 619_619 -33 1425 not_retained Modified residue Note=N6-acetyllysine%3B by CREBBP;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10490106;Dbxref=PMID:10490106 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371998 Q9Y6Q9 + 1 23 620_620 -33 1425 not_retained Modified residue Note=N6-acetyllysine%3B by CREBBP;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10490106;Dbxref=PMID:10490106 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371998 Q9Y6Q9 + 1 23 687_687 -33 1425 not_retained Mutagenesis Note=Does not affect acetylation by CREBBP. K->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10490106;Dbxref=PMID:10490106 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371998 Q9Y6Q9 + 1 23 694_694 -33 1425 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371998 Q9Y6Q9 + 1 23 728_728 -33 1425 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371998 Q9Y6Q9 + 1 23 857_857 -33 1425 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:16964243,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:16964243,PMID:18669648,PMID:19690332,PMID:20068231,PMID:23186163 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371998 Q9Y6Q9 + 1 23 860_860 -33 1425 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O09000 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371998 Q9Y6Q9 + 1 23 867_867 -33 1425 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:16964243,ECO:0000244|PubMed:20068231;Dbxref=PMID:16964243,PMID:20068231 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371998 Q9Y6Q9 + 1 23 1033_1033 -33 1425 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371998 Q9Y6Q9 + 1 23 1171_1171 -33 1425 not_retained Modified residue Note=Asymmetric dimethylarginine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24129315;Dbxref=PMID:24129315 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371998 Q9Y6Q9 + 1 23 1177_1177 -33 1425 not_retained Modified residue Note=Asymmetric dimethylarginine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24129315;Dbxref=PMID:24129315 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371998 Q9Y6Q9 + 1 23 1188_1188 -33 1425 not_retained Modified residue Note=Asymmetric dimethylarginine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24129315;Dbxref=PMID:24129315 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371998 Q9Y6Q9 + 1 23 1330_1330 -33 1425 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371998 Q9Y6Q9 + 1 23 321_321 -33 1425 not_retained Alternative sequence ID=VSP_003405;Note=In isoform 3 and isoform 4. E->EVTSDGIFSPT;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9267036;Dbxref=PMID:9267036 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371998 Q9Y6Q9 + 1 23 837_901 -33 1425 not_retained Alternative sequence ID=VSP_003406;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9267036;Dbxref=PMID:9267036 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371998 Q9Y6Q9 + 1 23 903_917 -33 1425 not_retained Alternative sequence ID=VSP_003407;Note=In isoform 2%2C isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:9267036,ECO:0000303|PubMed:9346901;Dbxref=PMID:9267036,PMID:9346901 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371998 Q9Y6Q9 + 1 23 1214_1217 -33 1425 not_retained Alternative sequence ID=VSP_003408;Note=In isoform 3%2C isoform 4 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:9238002,ECO:0000303|PubMed:9252329,ECO:0000303|PubMed:9267036;Dbxref=PMID:15489334,PMID:9238002,PMID:9252329,PMID:9267036 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371998 Q9Y6Q9 + 1 23 218_218 -33 1425 not_retained Natural variant ID=VAR_053527;Note=R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.5;Dbxref=dbSNP:rs6094752 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371998 Q9Y6Q9 + 1 23 220_220 -33 1425 not_retained Natural variant ID=VAR_060695;Note=R->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.5;Dbxref=dbSNP:rs72645252 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371998 Q9Y6Q9 + 1 23 369_369 -33 1425 not_retained Natural variant ID=VAR_053528;Note=L->F;Dbxref=dbSNP:rs6094756 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371998 Q9Y6Q9 + 1 23 460_460 -33 1425 not_retained Natural variant ID=VAR_013831;Note=G->R;Dbxref=dbSNP:rs1052765 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371998 Q9Y6Q9 + 1 23 556_556 -33 1425 not_retained Natural variant ID=VAR_060696;Note=I->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.5;Dbxref=dbSNP:rs72645272 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371998 Q9Y6Q9 + 1 23 559_559 -33 1425 not_retained Natural variant ID=VAR_013832;Note=P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.5;Dbxref=dbSNP:rs2230781 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371998 Q9Y6Q9 + 1 23 586_586 -33 1425 not_retained Natural variant ID=VAR_013833;Note=Q->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.5;Dbxref=dbSNP:rs2230782 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371998 Q9Y6Q9 + 1 23 777_777 -33 1425 not_retained Natural variant ID=VAR_053529;Note=S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.5;Dbxref=dbSNP:rs2230783 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371998 Q9Y6Q9 + 1 23 1247_1247 -33 1425 not_retained Natural variant ID=VAR_060698;Note=M->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.5;Dbxref=dbSNP:rs72645298 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371998 Q9Y6Q9 + 1 23 1247_1247 -33 1425 not_retained Natural variant ID=VAR_060698;Note=M->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.5;Dbxref=dbSNP:rs72645298 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371998 Q9Y6Q9 + 1 23 1248_1250 -33 1425 not_retained Natural variant ID=VAR_013834;Note=Missing;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:9238002,ECO:0000269|PubMed:9267036;Dbxref=PMID:9238002,PMID:9267036 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371998 Q9Y6Q9 + 1 23 616_616 -33 1425 not_retained Mutagenesis Note=Strongly reduces acetylation by CREBBP. K->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10490106;Dbxref=PMID:10490106 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371998 Q9Y6Q9 + 1 23 619_620 -33 1425 not_retained Mutagenesis Note=Abolishes acetylation by CREBBP. KK->QQ;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10490106;Dbxref=PMID:10490106 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371998 Q9Y6Q9 + 1 23 647_647 -33 1425 not_retained Mutagenesis Note=Does not affect acetylation by CREBBP. K->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10490106;Dbxref=PMID:10490106 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371998 Q9Y6Q9 + 1 23 681_681 -33 1425 not_retained Mutagenesis Note=Does not affect acetylation by CREBBP. K->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10490106;Dbxref=PMID:10490106 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371998 Q9Y6Q9 + 1 23 687_687 -33 1425 not_retained Mutagenesis Note=Does not affect acetylation by CREBBP. K->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10490106;Dbxref=PMID:10490106 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371998 Q9Y6Q9 + 1 23 700_700 -33 1425 not_retained Mutagenesis Note=Does not affect acetylation by CREBBP. K->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10490106;Dbxref=PMID:10490106 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371998 Q9Y6Q9 + 1 23 708_708 -33 1425 not_retained Mutagenesis Note=Does not affect acetylation by CREBBP. K->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10490106;Dbxref=PMID:10490106 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371998 Q9Y6Q9 + 1 23 131_132 -33 1425 not_retained Sequence conflict Note=DG->EA;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371998 Q9Y6Q9 + 1 23 619_626 -33 1425 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3L3X Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371998 Q9Y6Q9 + 1 23 736_743 -33 1425 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3L3Z Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371998 Q9Y6Q9 + 1 23 1049_1060 -33 1425 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1KBH Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371998 Q9Y6Q9 + 1 23 1069_1075 -33 1425 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1KBH Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371998 Q9Y6Q9 + 1 23 1078_1084 -33 1425 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1KBH Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371998 Q9Y6Q9 + 1 23 1086_1088 -33 1425 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1KBH Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371997 Q9Y6Q9 + 1 23 1_1 -33 1416 not_retained Initiator methionine Note=Removed;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:22814378;Dbxref=PMID:22814378 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371997 Q9Y6Q9 + 1 23 2_1424 -33 1416 not_retained Chain ID=PRO_0000094406;Note=Nuclear receptor coactivator 3 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371997 Q9Y6Q9 + 1 23 25_82 -33 1416 not_retained Domain Note=bHLH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00981 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371997 Q9Y6Q9 + 1 23 110_180 -33 1416 not_retained Domain Note=PAS;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00140 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371997 Q9Y6Q9 + 1 23 1023_1093 -33 1416 not_retained Region Note=Interaction with CREBBP;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9346901;Dbxref=PMID:9346901 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371997 Q9Y6Q9 + 1 23 1097_1304 -33 1416 not_retained Region Note=Acetyltransferase Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371997 Q9Y6Q9 + 1 23 685_689 -33 1416 not_retained Motif Note=LXXLL motif 1 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371997 Q9Y6Q9 + 1 23 738_742 -33 1416 not_retained Motif Note=LXXLL motif 2 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371997 Q9Y6Q9 + 1 23 1057_1061 -33 1416 not_retained Motif Note=LXXLL motif 3 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371997 Q9Y6Q9 + 1 23 505_671 -33 1416 not_retained Compositional bias Note=Ser-rich Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371997 Q9Y6Q9 + 1 23 976_980 -33 1416 not_retained Compositional bias Note=Poly-Gln Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371997 Q9Y6Q9 + 1 23 1248_1278 -33 1416 not_retained Compositional bias Note=Poly-Gln Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371997 Q9Y6Q9 + 1 23 1392_1417 -33 1416 not_retained Compositional bias Note=Met-rich Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371997 Q9Y6Q9 + 1 23 2_2 -33 1416 not_retained Modified residue Note=N-acetylserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:22814378;Dbxref=PMID:22814378 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371997 Q9Y6Q9 + 1 23 214_214 -33 1416 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:20068231,PMID:23186163 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371997 Q9Y6Q9 + 1 23 551_551 -33 1416 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:18669648,PMID:23186163,PMID:24275569 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371997 Q9Y6Q9 + 1 23 569_569 -33 1416 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O09000 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371997 Q9Y6Q9 + 1 23 601_601 -33 1416 not_retained Modified residue Note=Phosphoserine%3B by CK1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19339517;Dbxref=PMID:19339517 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371997 Q9Y6Q9 + 1 23 616_616 -33 1416 not_retained Mutagenesis Note=Strongly reduces acetylation by CREBBP. K->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10490106;Dbxref=PMID:10490106 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371997 Q9Y6Q9 + 1 23 619_619 -33 1416 not_retained Modified residue Note=N6-acetyllysine%3B by CREBBP;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10490106;Dbxref=PMID:10490106 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371997 Q9Y6Q9 + 1 23 620_620 -33 1416 not_retained Modified residue Note=N6-acetyllysine%3B by CREBBP;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10490106;Dbxref=PMID:10490106 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371997 Q9Y6Q9 + 1 23 687_687 -33 1416 not_retained Mutagenesis Note=Does not affect acetylation by CREBBP. K->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10490106;Dbxref=PMID:10490106 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371997 Q9Y6Q9 + 1 23 694_694 -33 1416 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371997 Q9Y6Q9 + 1 23 728_728 -33 1416 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371997 Q9Y6Q9 + 1 23 857_857 -33 1416 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:16964243,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:16964243,PMID:18669648,PMID:19690332,PMID:20068231,PMID:23186163 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371997 Q9Y6Q9 + 1 23 860_860 -33 1416 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O09000 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371997 Q9Y6Q9 + 1 23 867_867 -33 1416 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:16964243,ECO:0000244|PubMed:20068231;Dbxref=PMID:16964243,PMID:20068231 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371997 Q9Y6Q9 + 1 23 1033_1033 -33 1416 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371997 Q9Y6Q9 + 1 23 1171_1171 -33 1416 not_retained Modified residue Note=Asymmetric dimethylarginine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24129315;Dbxref=PMID:24129315 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371997 Q9Y6Q9 + 1 23 1177_1177 -33 1416 not_retained Modified residue Note=Asymmetric dimethylarginine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24129315;Dbxref=PMID:24129315 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371997 Q9Y6Q9 + 1 23 1188_1188 -33 1416 not_retained Modified residue Note=Asymmetric dimethylarginine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24129315;Dbxref=PMID:24129315 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371997 Q9Y6Q9 + 1 23 1330_1330 -33 1416 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371997 Q9Y6Q9 + 1 23 321_321 -33 1416 not_retained Alternative sequence ID=VSP_003405;Note=In isoform 3 and isoform 4. E->EVTSDGIFSPT;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9267036;Dbxref=PMID:9267036 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371997 Q9Y6Q9 + 1 23 837_901 -33 1416 not_retained Alternative sequence ID=VSP_003406;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9267036;Dbxref=PMID:9267036 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371997 Q9Y6Q9 + 1 23 903_917 -33 1416 not_retained Alternative sequence ID=VSP_003407;Note=In isoform 2%2C isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:9267036,ECO:0000303|PubMed:9346901;Dbxref=PMID:9267036,PMID:9346901 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371997 Q9Y6Q9 + 1 23 1214_1217 -33 1416 not_retained Alternative sequence ID=VSP_003408;Note=In isoform 3%2C isoform 4 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:9238002,ECO:0000303|PubMed:9252329,ECO:0000303|PubMed:9267036;Dbxref=PMID:15489334,PMID:9238002,PMID:9252329,PMID:9267036 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371997 Q9Y6Q9 + 1 23 218_218 -33 1416 not_retained Natural variant ID=VAR_053527;Note=R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.5;Dbxref=dbSNP:rs6094752 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371997 Q9Y6Q9 + 1 23 220_220 -33 1416 not_retained Natural variant ID=VAR_060695;Note=R->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.5;Dbxref=dbSNP:rs72645252 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371997 Q9Y6Q9 + 1 23 369_369 -33 1416 not_retained Natural variant ID=VAR_053528;Note=L->F;Dbxref=dbSNP:rs6094756 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371997 Q9Y6Q9 + 1 23 460_460 -33 1416 not_retained Natural variant ID=VAR_013831;Note=G->R;Dbxref=dbSNP:rs1052765 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371997 Q9Y6Q9 + 1 23 556_556 -33 1416 not_retained Natural variant ID=VAR_060696;Note=I->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.5;Dbxref=dbSNP:rs72645272 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371997 Q9Y6Q9 + 1 23 559_559 -33 1416 not_retained Natural variant ID=VAR_013832;Note=P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.5;Dbxref=dbSNP:rs2230781 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371997 Q9Y6Q9 + 1 23 586_586 -33 1416 not_retained Natural variant ID=VAR_013833;Note=Q->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.5;Dbxref=dbSNP:rs2230782 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371997 Q9Y6Q9 + 1 23 777_777 -33 1416 not_retained Natural variant ID=VAR_053529;Note=S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.5;Dbxref=dbSNP:rs2230783 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371997 Q9Y6Q9 + 1 23 1247_1247 -33 1416 not_retained Natural variant ID=VAR_060698;Note=M->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.5;Dbxref=dbSNP:rs72645298 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371997 Q9Y6Q9 + 1 23 1247_1247 -33 1416 not_retained Natural variant ID=VAR_060698;Note=M->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.5;Dbxref=dbSNP:rs72645298 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371997 Q9Y6Q9 + 1 23 1248_1250 -33 1416 not_retained Natural variant ID=VAR_013834;Note=Missing;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:9238002,ECO:0000269|PubMed:9267036;Dbxref=PMID:9238002,PMID:9267036 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371997 Q9Y6Q9 + 1 23 616_616 -33 1416 not_retained Mutagenesis Note=Strongly reduces acetylation by CREBBP. K->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10490106;Dbxref=PMID:10490106 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371997 Q9Y6Q9 + 1 23 619_620 -33 1416 not_retained Mutagenesis Note=Abolishes acetylation by CREBBP. KK->QQ;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10490106;Dbxref=PMID:10490106 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371997 Q9Y6Q9 + 1 23 647_647 -33 1416 not_retained Mutagenesis Note=Does not affect acetylation by CREBBP. K->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10490106;Dbxref=PMID:10490106 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371997 Q9Y6Q9 + 1 23 681_681 -33 1416 not_retained Mutagenesis Note=Does not affect acetylation by CREBBP. K->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10490106;Dbxref=PMID:10490106 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371997 Q9Y6Q9 + 1 23 687_687 -33 1416 not_retained Mutagenesis Note=Does not affect acetylation by CREBBP. K->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10490106;Dbxref=PMID:10490106 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371997 Q9Y6Q9 + 1 23 700_700 -33 1416 not_retained Mutagenesis Note=Does not affect acetylation by CREBBP. K->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10490106;Dbxref=PMID:10490106 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371997 Q9Y6Q9 + 1 23 708_708 -33 1416 not_retained Mutagenesis Note=Does not affect acetylation by CREBBP. K->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10490106;Dbxref=PMID:10490106 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371997 Q9Y6Q9 + 1 23 131_132 -33 1416 not_retained Sequence conflict Note=DG->EA;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371997 Q9Y6Q9 + 1 23 619_626 -33 1416 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3L3X Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371997 Q9Y6Q9 + 1 23 736_743 -33 1416 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3L3Z Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371997 Q9Y6Q9 + 1 23 1049_1060 -33 1416 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1KBH Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371997 Q9Y6Q9 + 1 23 1069_1075 -33 1416 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1KBH Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371997 Q9Y6Q9 + 1 23 1078_1084 -33 1416 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1KBH Hgene 5UTR-3CDS DA523336 ChiTaRS NCOA3 chr20:46130765 SLAIN1 chr13:78293665 ENST00000371997 Q9Y6Q9 + 1 23 1086_1088 -33 1416 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1KBH Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000244769 P54253 - 1 9 1_815 -313 816 not_retained Chain ID=PRO_0000064751;Note=Ataxin-1 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000244769 P54253 - 1 9 562_693 -313 816 not_retained Domain Note=AXH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00496 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000244769 P54253 - 1 9 494_604 -313 816 not_retained Region Note=Self-association;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9097953;Dbxref=PMID:9097953 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000244769 P54253 - 1 9 538_815 -313 816 not_retained Region Note=Interaction with USP7;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12093161;Dbxref=PMID:12093161 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000244769 P54253 - 1 9 540_766 -313 816 not_retained Region Note=RNA-binding;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11136710;Dbxref=PMID:11136710 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000244769 P54253 - 1 9 794_797 -313 816 not_retained Motif Note=Nuclear localization signal;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P54254 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000244769 P54253 - 1 9 197_225 -313 816 not_retained Compositional bias Note=Poly-Gln Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000244769 P54253 - 1 9 82_82 -313 816 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P54254 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000244769 P54253 - 1 9 88_88 -313 816 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000244769 P54253 - 1 9 238_238 -313 816 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000244769 P54253 - 1 9 253_253 -313 816 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P54254 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000244769 P54253 - 1 9 775_775 -313 816 not_retained Mutagenesis Note=Reduces phosphorylation but does not affect nuclear localization. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12741986;Dbxref=PMID:12741986 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000244769 P54253 - 1 9 16_16 -313 816 not_retained Mutagenesis Note=Sumoylation reduced to 40%25 of wild-type. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15824120;Dbxref=PMID:15824120 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000244769 P54253 - 1 9 194_194 -313 816 not_retained Mutagenesis Note=Sumoylation reduced to 46%25 of wild-type. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15824120;Dbxref=PMID:15824120 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000244769 P54253 - 1 9 609_609 -313 816 not_retained Mutagenesis Note=Sumoylation reduced to 43%25 of wild-type. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15824120;Dbxref=PMID:15824120 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000244769 P54253 - 1 9 696_696 -313 816 not_retained Mutagenesis Note=Sumoylation reduced to 42%25 of wild-type. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15824120;Dbxref=PMID:15824120 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000244769 P54253 - 1 9 745_745 -313 816 not_retained Mutagenesis Note=Sumoylation reduced to 44%25 of wild-type. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15824120;Dbxref=PMID:15824120 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000244769 P54253 - 1 9 209_209 -313 816 not_retained Natural variant ID=VAR_046616;Note=H->Q;Dbxref=dbSNP:rs11969612 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000244769 P54253 - 1 9 753_753 -313 816 not_retained Natural variant ID=VAR_046617;Note=P->S;Dbxref=dbSNP:rs16885 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000244769 P54253 - 1 9 16_16 -313 816 not_retained Mutagenesis Note=Sumoylation reduced to 40%25 of wild-type. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15824120;Dbxref=PMID:15824120 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000244769 P54253 - 1 9 194_194 -313 816 not_retained Mutagenesis Note=Sumoylation reduced to 46%25 of wild-type. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15824120;Dbxref=PMID:15824120 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000244769 P54253 - 1 9 420_420 -313 816 not_retained Mutagenesis Note=No effect on sumoylation. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15824120;Dbxref=PMID:15824120 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000244769 P54253 - 1 9 529_529 -313 816 not_retained Mutagenesis Note=Sumoylation reduced to 57%25 of wild-type. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15824120;Dbxref=PMID:15824120 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000244769 P54253 - 1 9 589_589 -313 816 not_retained Mutagenesis Note=Sumoylation reduced to 53%25 of wild-type. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15824120;Dbxref=PMID:15824120 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000244769 P54253 - 1 9 594_594 -313 816 not_retained Mutagenesis Note=Sumoylation reduced to 68%25 of wild-type. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15824120;Dbxref=PMID:15824120 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000244769 P54253 - 1 9 609_609 -313 816 not_retained Mutagenesis Note=Sumoylation reduced to 43%25 of wild-type. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15824120;Dbxref=PMID:15824120 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000244769 P54253 - 1 9 691_691 -313 816 not_retained Mutagenesis Note=No effect on sumoylation. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15824120;Dbxref=PMID:15824120 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000244769 P54253 - 1 9 696_696 -313 816 not_retained Mutagenesis Note=Sumoylation reduced to 42%25 of wild-type. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15824120;Dbxref=PMID:15824120 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000244769 P54253 - 1 9 745_745 -313 816 not_retained Mutagenesis Note=Sumoylation reduced to 44%25 of wild-type. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15824120;Dbxref=PMID:15824120 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000244769 P54253 - 1 9 775_775 -313 816 not_retained Mutagenesis Note=Reduces phosphorylation but does not affect nuclear localization. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12741986;Dbxref=PMID:12741986 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000244769 P54253 - 1 9 784_784 -313 816 not_retained Mutagenesis Note=Sumoylation reduced to 62%25 of wild-type. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15824120;Dbxref=PMID:15824120 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000244769 P54253 - 1 9 211_211 -313 816 not_retained Sequence conflict Note=H->HQ;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000244769 P54253 - 1 9 568_570 -313 816 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2M41 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000244769 P54253 - 1 9 572_574 -313 816 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1OA8 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000244769 P54253 - 1 9 579_581 -313 816 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1OA8 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000244769 P54253 - 1 9 587_589 -313 816 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1OA8 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000244769 P54253 - 1 9 590_592 -313 816 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1OA8 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000244769 P54253 - 1 9 595_604 -313 816 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1OA8 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000244769 P54253 - 1 9 606_620 -313 816 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1OA8 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000244769 P54253 - 1 9 626_633 -313 816 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1OA8 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000244769 P54253 - 1 9 634_637 -313 816 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1OA8 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000244769 P54253 - 1 9 638_645 -313 816 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1OA8 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000244769 P54253 - 1 9 650_652 -313 816 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1OA8 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000244769 P54253 - 1 9 653_655 -313 816 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1OA8 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000244769 P54253 - 1 9 656_660 -313 816 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1OA8 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000244769 P54253 - 1 9 662_669 -313 816 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1OA8 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000244769 P54253 - 1 9 673_675 -313 816 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4J2L Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000244769 P54253 - 1 9 681_687 -313 816 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1OA8 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000436367 P54253 - 1 8 1_815 -308 816 not_retained Chain ID=PRO_0000064751;Note=Ataxin-1 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000436367 P54253 - 1 8 562_693 -308 816 not_retained Domain Note=AXH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00496 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000436367 P54253 - 1 8 494_604 -308 816 not_retained Region Note=Self-association;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9097953;Dbxref=PMID:9097953 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000436367 P54253 - 1 8 538_815 -308 816 not_retained Region Note=Interaction with USP7;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12093161;Dbxref=PMID:12093161 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000436367 P54253 - 1 8 540_766 -308 816 not_retained Region Note=RNA-binding;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11136710;Dbxref=PMID:11136710 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000436367 P54253 - 1 8 794_797 -308 816 not_retained Motif Note=Nuclear localization signal;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P54254 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000436367 P54253 - 1 8 197_225 -308 816 not_retained Compositional bias Note=Poly-Gln Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000436367 P54253 - 1 8 82_82 -308 816 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P54254 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000436367 P54253 - 1 8 88_88 -308 816 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000436367 P54253 - 1 8 238_238 -308 816 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000436367 P54253 - 1 8 253_253 -308 816 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P54254 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000436367 P54253 - 1 8 775_775 -308 816 not_retained Mutagenesis Note=Reduces phosphorylation but does not affect nuclear localization. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12741986;Dbxref=PMID:12741986 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000436367 P54253 - 1 8 16_16 -308 816 not_retained Mutagenesis Note=Sumoylation reduced to 40%25 of wild-type. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15824120;Dbxref=PMID:15824120 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000436367 P54253 - 1 8 194_194 -308 816 not_retained Mutagenesis Note=Sumoylation reduced to 46%25 of wild-type. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15824120;Dbxref=PMID:15824120 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000436367 P54253 - 1 8 609_609 -308 816 not_retained Mutagenesis Note=Sumoylation reduced to 43%25 of wild-type. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15824120;Dbxref=PMID:15824120 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000436367 P54253 - 1 8 696_696 -308 816 not_retained Mutagenesis Note=Sumoylation reduced to 42%25 of wild-type. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15824120;Dbxref=PMID:15824120 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000436367 P54253 - 1 8 745_745 -308 816 not_retained Mutagenesis Note=Sumoylation reduced to 44%25 of wild-type. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15824120;Dbxref=PMID:15824120 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000436367 P54253 - 1 8 209_209 -308 816 not_retained Natural variant ID=VAR_046616;Note=H->Q;Dbxref=dbSNP:rs11969612 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000436367 P54253 - 1 8 753_753 -308 816 not_retained Natural variant ID=VAR_046617;Note=P->S;Dbxref=dbSNP:rs16885 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000436367 P54253 - 1 8 16_16 -308 816 not_retained Mutagenesis Note=Sumoylation reduced to 40%25 of wild-type. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15824120;Dbxref=PMID:15824120 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000436367 P54253 - 1 8 194_194 -308 816 not_retained Mutagenesis Note=Sumoylation reduced to 46%25 of wild-type. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15824120;Dbxref=PMID:15824120 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000436367 P54253 - 1 8 420_420 -308 816 not_retained Mutagenesis Note=No effect on sumoylation. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15824120;Dbxref=PMID:15824120 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000436367 P54253 - 1 8 529_529 -308 816 not_retained Mutagenesis Note=Sumoylation reduced to 57%25 of wild-type. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15824120;Dbxref=PMID:15824120 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000436367 P54253 - 1 8 589_589 -308 816 not_retained Mutagenesis Note=Sumoylation reduced to 53%25 of wild-type. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15824120;Dbxref=PMID:15824120 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000436367 P54253 - 1 8 594_594 -308 816 not_retained Mutagenesis Note=Sumoylation reduced to 68%25 of wild-type. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15824120;Dbxref=PMID:15824120 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000436367 P54253 - 1 8 609_609 -308 816 not_retained Mutagenesis Note=Sumoylation reduced to 43%25 of wild-type. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15824120;Dbxref=PMID:15824120 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000436367 P54253 - 1 8 691_691 -308 816 not_retained Mutagenesis Note=No effect on sumoylation. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15824120;Dbxref=PMID:15824120 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000436367 P54253 - 1 8 696_696 -308 816 not_retained Mutagenesis Note=Sumoylation reduced to 42%25 of wild-type. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15824120;Dbxref=PMID:15824120 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000436367 P54253 - 1 8 745_745 -308 816 not_retained Mutagenesis Note=Sumoylation reduced to 44%25 of wild-type. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15824120;Dbxref=PMID:15824120 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000436367 P54253 - 1 8 775_775 -308 816 not_retained Mutagenesis Note=Reduces phosphorylation but does not affect nuclear localization. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12741986;Dbxref=PMID:12741986 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000436367 P54253 - 1 8 784_784 -308 816 not_retained Mutagenesis Note=Sumoylation reduced to 62%25 of wild-type. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15824120;Dbxref=PMID:15824120 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000436367 P54253 - 1 8 211_211 -308 816 not_retained Sequence conflict Note=H->HQ;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000436367 P54253 - 1 8 568_570 -308 816 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2M41 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000436367 P54253 - 1 8 572_574 -308 816 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1OA8 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000436367 P54253 - 1 8 579_581 -308 816 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1OA8 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000436367 P54253 - 1 8 587_589 -308 816 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1OA8 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000436367 P54253 - 1 8 590_592 -308 816 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1OA8 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000436367 P54253 - 1 8 595_604 -308 816 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1OA8 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000436367 P54253 - 1 8 606_620 -308 816 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1OA8 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000436367 P54253 - 1 8 626_633 -308 816 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1OA8 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000436367 P54253 - 1 8 634_637 -308 816 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1OA8 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000436367 P54253 - 1 8 638_645 -308 816 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1OA8 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000436367 P54253 - 1 8 650_652 -308 816 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1OA8 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000436367 P54253 - 1 8 653_655 -308 816 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1OA8 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000436367 P54253 - 1 8 656_660 -308 816 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1OA8 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000436367 P54253 - 1 8 662_669 -308 816 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1OA8 Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000436367 P54253 - 1 8 673_675 -308 816 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4J2L Hgene intron-intron BG983407 ChiTaRS ATXN1 chr6:16429267 NEDD4L chr18:56042267 ENST00000436367 P54253 - 1 8 681_687 -308 816 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1OA8 Hgene intron-3UTR DT218441 ChiTaRS CD74 chr5:149784685 PHC2 chr1:33790129 ENST00000377795 P04233 - 1 6 1_296 -7 280 not_retained Chain ID=PRO_0000067954;Note=HLA class II histocompatibility antigen gamma chain Hgene intron-3UTR DT218441 ChiTaRS CD74 chr5:149784685 PHC2 chr1:33790129 ENST00000377795 P04233 - 1 6 1_46 -7 280 not_retained Topological domain Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene intron-3UTR DT218441 ChiTaRS CD74 chr5:149784685 PHC2 chr1:33790129 ENST00000377795 P04233 - 1 6 47_72 -7 280 not_retained Transmembrane Note=Helical%3B Signal-anchor for type II membrane protein;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene intron-3UTR DT218441 ChiTaRS CD74 chr5:149784685 PHC2 chr1:33790129 ENST00000377795 P04233 - 1 6 73_296 -7 280 not_retained Topological domain Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 Hgene intron-3UTR DT218441 ChiTaRS CD74 chr5:149784685 PHC2 chr1:33790129 ENST00000377795 P04233 - 1 6 210_271 -7 280 not_retained Domain Note=Thyroglobulin type-1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00500 Hgene intron-3UTR DT218441 ChiTaRS CD74 chr5:149784685 PHC2 chr1:33790129 ENST00000377795 P04233 - 1 6 103_117 -7 280 not_retained Region Note=CLIP Hgene intron-3UTR DT218441 ChiTaRS CD74 chr5:149784685 PHC2 chr1:33790129 ENST00000377795 P04233 - 1 6 208_209 -7 280 not_retained Site Note=Breakpoint for translocation to form a CD74-ROS1 fusion protein Hgene intron-3UTR DT218441 ChiTaRS CD74 chr5:149784685 PHC2 chr1:33790129 ENST00000377795 P04233 - 1 6 25_25 -7 280 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P04441 Hgene intron-3UTR DT218441 ChiTaRS CD74 chr5:149784685 PHC2 chr1:33790129 ENST00000377795 P04233 - 1 6 130_130 -7 280 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine Hgene intron-3UTR DT218441 ChiTaRS CD74 chr5:149784685 PHC2 chr1:33790129 ENST00000377795 P04233 - 1 6 136_136 -7 280 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19159218;Dbxref=PMID:19159218 Hgene intron-3UTR DT218441 ChiTaRS CD74 chr5:149784685 PHC2 chr1:33790129 ENST00000377795 P04233 - 1 6 203_203 -7 280 not_retained Glycosylation Note=O-linked (GalNAc...) threonine;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:22171320,ECO:0000269|PubMed:23234360;Dbxref=PMID:22171320,PMID:23234360 Hgene intron-3UTR DT218441 ChiTaRS CD74 chr5:149784685 PHC2 chr1:33790129 ENST00000377795 P04233 - 1 6 256_256 -7 280 not_retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10022822;Dbxref=PMID:10022822 Hgene intron-3UTR DT218441 ChiTaRS CD74 chr5:149784685 PHC2 chr1:33790129 ENST00000377795 P04233 - 1 6 281_281 -7 280 not_retained Glycosylation Note=O-linked (GalNAc...) serine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23234360;Dbxref=PMID:23234360 Hgene intron-3UTR DT218441 ChiTaRS CD74 chr5:149784685 PHC2 chr1:33790129 ENST00000377795 P04233 - 1 6 213_232 -7 280 not_retained Disulfide bond Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255|PROSITE-ProRule:PRU00500,ECO:0000269|PubMed:10022822;Dbxref=PMID:10022822 Hgene intron-3UTR DT218441 ChiTaRS CD74 chr5:149784685 PHC2 chr1:33790129 ENST00000377795 P04233 - 1 6 243_250 -7 280 not_retained Disulfide bond Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255|PROSITE-ProRule:PRU00500,ECO:0000269|PubMed:10022822;Dbxref=PMID:10022822 Hgene intron-3UTR DT218441 ChiTaRS CD74 chr5:149784685 PHC2 chr1:33790129 ENST00000377795 P04233 - 1 6 252_271 -7 280 not_retained Disulfide bond Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255|PROSITE-ProRule:PRU00500,ECO:0000269|PubMed:10022822;Dbxref=PMID:10022822 Hgene intron-3UTR DT218441 ChiTaRS CD74 chr5:149784685 PHC2 chr1:33790129 ENST00000377795 P04233 - 1 6 148_160 -7 280 not_retained Alternative sequence ID=VSP_037869;Note=In isoform 3. NADPLKVYPPLKG->SHWNWRTRLLGWV;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Hgene intron-3UTR DT218441 ChiTaRS CD74 chr5:149784685 PHC2 chr1:33790129 ENST00000377795 P04233 - 1 6 161_296 -7 280 not_retained Alternative sequence ID=VSP_037870;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Hgene intron-3UTR DT218441 ChiTaRS CD74 chr5:149784685 PHC2 chr1:33790129 ENST00000377795 P04233 - 1 6 209_272 -7 280 not_retained Alternative sequence ID=VSP_005331;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:6324166,ECO:0000303|PubMed:6586420,ECO:0000303|Ref.5;Dbxref=PMID:14702039,PMID:15489334,PMID:6324166,PMID:6586420 Hgene intron-3UTR DT218441 ChiTaRS CD74 chr5:149784685 PHC2 chr1:33790129 ENST00000377795 P04233 - 1 6 167_167 -7 280 not_retained Sequence conflict Note=R->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 Hgene intron-3UTR DT218441 ChiTaRS CD74 chr5:149784685 PHC2 chr1:33790129 ENST00000377795 P04233 - 1 6 139_149 -7 280 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1IIE Hgene intron-3UTR DT218441 ChiTaRS CD74 chr5:149784685 PHC2 chr1:33790129 ENST00000377795 P04233 - 1 6 162_172 -7 280 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1IIE Hgene intron-3UTR DT218441 ChiTaRS CD74 chr5:149784685 PHC2 chr1:33790129 ENST00000377795 P04233 - 1 6 175_194 -7 280 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1IIE Hgene intron-3UTR DT218441 ChiTaRS CD74 chr5:149784685 PHC2 chr1:33790129 ENST00000377795 P04233 - 1 6 212_217 -7 280 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1ICF Hgene intron-3UTR DT218441 ChiTaRS CD74 chr5:149784685 PHC2 chr1:33790129 ENST00000377795 P04233 - 1 6 236_238 -7 280 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1L3H Hgene intron-3UTR DT218441 ChiTaRS CD74 chr5:149784685 PHC2 chr1:33790129 ENST00000377795 P04233 - 1 6 240_244 -7 280 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1ICF Hgene intron-3UTR DT218441 ChiTaRS CD74 chr5:149784685 PHC2 chr1:33790129 ENST00000377795 P04233 - 1 6 245_248 -7 280 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1ICF Hgene intron-3UTR DT218441 ChiTaRS CD74 chr5:149784685 PHC2 chr1:33790129 ENST00000377795 P04233 - 1 6 249_253 -7 280 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1ICF Hgene intron-3UTR DT218441 ChiTaRS CD74 chr5:149784685 PHC2 chr1:33790129 ENST00000377795 P04233 - 1 6 265_267 -7 280 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1ICF Hgene intron-3UTR