Ctype GenomicBP Symbol refSeqID ChiTaRS strand BPexon(0-based) #exon domainLoci BPatProtein totalCDSlength domainType UniprotNote Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000345843 Q06330 + 0 11 1_500 -55 486 retained Chain ID=PRO_0000208567;Note=Recombining binding protein suppressor of hairless Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000345843 Q06330 + 0 11 355_445 -55 486 retained Domain Note=IPT/TIG Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000345843 Q06330 + 0 11 58_65 -55 486 retained DNA binding . Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000345843 Q06330 + 0 11 192_201 -55 486 retained DNA binding . Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000345843 Q06330 + 0 11 265_297 -55 486 retained DNA binding . Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000345843 Q06330 + 0 11 175_175 -55 486 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P31266 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000345843 Q06330 + 0 11 1_89 -55 486 retained Alternative sequence ID=VSP_002718;Note=In isoform APCR-3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8406481;Dbxref=PMID:8406481 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000345843 Q06330 + 0 11 1_75 -55 486 retained Alternative sequence ID=VSP_002717;Note=In isoform APCR-1. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8406481;Dbxref=PMID:8406481 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000345843 Q06330 + 0 11 1_35 -55 486 retained Alternative sequence ID=VSP_021572;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000345843 Q06330 + 0 11 1_20 -55 486 retained Alternative sequence ID=VSP_021574;Note=In isoform 6. MDHTEGSPAEEPPAHAPSPG->MAWIKR;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000345843 Q06330 + 0 11 1_20 -55 486 retained Alternative sequence ID=VSP_021574;Note=In isoform 6. MDHTEGSPAEEPPAHAPSPG->MAWIKR;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000345843 Q06330 + 0 11 1_19 -55 486 retained Alternative sequence ID=VSP_042637;Note=In isoform 7. MDHTEGSPAEEPPAHAPSP->MAPVVT;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000345843 Q06330 + 0 11 90_95 -55 486 retained Alternative sequence ID=VSP_002719;Note=In isoform APCR-3. DGCSEQ->MAWIKR;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8406481;Dbxref=PMID:8406481 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000345843 Q06330 + 0 11 63_63 -55 486 retained Natural variant ID=VAR_068929;Note=In AOS3%3B shows decreased binding to the HES1 promoter compared to wild-type. E->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22883147;Dbxref=dbSNP:rs387907270,PMID:22883147 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000345843 Q06330 + 0 11 169_169 -55 486 retained Natural variant ID=VAR_068930;Note=In AOS3%3B shows decreased binding to the HES1 promoter compared to wild-type. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22883147;Dbxref=dbSNP:rs387907271,PMID:22883147 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000345843 Q06330 + 0 11 291_291 -55 486 retained Natural variant ID=VAR_028994;Note=K->E;Dbxref=dbSNP:rs1064372 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000345843 Q06330 + 0 11 334_334 -55 486 retained Natural variant ID=VAR_028995;Note=D->H;Dbxref=dbSNP:rs1064376 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000345843 Q06330 + 0 11 408_408 -55 486 retained Natural variant ID=VAR_057244;Note=I->V;Dbxref=dbSNP:rs1064381 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000345843 Q06330 + 0 11 419_419 -55 486 retained Natural variant ID=VAR_028996;Note=R->Q;Dbxref=dbSNP:rs1064384 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000345843 Q06330 + 0 11 425_425 -55 486 retained Natural variant ID=VAR_028997;Note=P->S;Dbxref=dbSNP:rs1064387 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000345843 Q06330 + 0 11 456_456 -55 486 retained Natural variant ID=VAR_028998;Note=A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8406481;Dbxref=dbSNP:rs1064402,PMID:8406481 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000345843 Q06330 + 0 11 7_7 -55 486 retained Sequence conflict Note=S->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000345843 Q06330 + 0 11 7_7 -55 486 retained Sequence conflict Note=S->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000345843 Q06330 + 0 11 7_7 -55 486 retained Sequence conflict Note=S->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000345843 Q06330 + 0 11 140_141 -55 486 retained Sequence conflict Note=ML->IF;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000345843 Q06330 + 0 11 240_240 -55 486 retained Sequence conflict Note=G->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000345843 Q06330 + 0 11 248_248 -55 486 retained Sequence conflict Note=V->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000345843 Q06330 + 0 11 265_265 -55 486 retained Sequence conflict Note=R->M;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000345843 Q06330 + 0 11 270_270 -55 486 retained Sequence conflict Note=Q->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000345843 Q06330 + 0 11 462_462 -55 486 retained Sequence conflict Note=R->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000345843 Q06330 + 0 11 33_41 -55 486 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000345843 Q06330 + 0 11 50_57 -55 486 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000345843 Q06330 + 0 11 72_74 -55 486 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3NBN Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000345843 Q06330 + 0 11 79_88 -55 486 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000345843 Q06330 + 0 11 89_91 -55 486 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3NBN Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000345843 Q06330 + 0 11 94_96 -55 486 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000345843 Q06330 + 0 11 102_105 -55 486 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000345843 Q06330 + 0 11 118_121 -55 486 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3NBN Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000345843 Q06330 + 0 11 137_139 -55 486 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000345843 Q06330 + 0 11 141_146 -55 486 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000345843 Q06330 + 0 11 152_157 -55 486 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000345843 Q06330 + 0 11 161_166 -55 486 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000345843 Q06330 + 0 11 174_176 -55 486 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000345843 Q06330 + 0 11 178_180 -55 486 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000345843 Q06330 + 0 11 185_191 -55 486 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000345843 Q06330 + 0 11 193_195 -55 486 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000345843 Q06330 + 0 11 197_199 -55 486 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000345843 Q06330 + 0 11 204_206 -55 486 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000345843 Q06330 + 0 11 209_211 -55 486 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000345843 Q06330 + 0 11 220_225 -55 486 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000345843 Q06330 + 0 11 231_234 -55 486 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000345843 Q06330 + 0 11 246_255 -55 486 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000345843 Q06330 + 0 11 262_268 -55 486 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000345843 Q06330 + 0 11 271_275 -55 486 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000345843 Q06330 + 0 11 284_289 -55 486 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000345843 Q06330 + 0 11 291_295 -55 486 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000345843 Q06330 + 0 11 297_299 -55 486 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3NBN Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000345843 Q06330 + 0 11 302_306 -55 486 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000345843 Q06330 + 0 11 319_321 -55 486 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000345843 Q06330 + 0 11 328_336 -55 486 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000345843 Q06330 + 0 11 343_345 -55 486 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3NBN Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000345843 Q06330 + 0 11 356_362 -55 486 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000345843 Q06330 + 0 11 366_368 -55 486 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000345843 Q06330 + 0 11 370_377 -55 486 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000345843 Q06330 + 0 11 382_386 -55 486 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000345843 Q06330 + 0 11 389_391 -55 486 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000345843 Q06330 + 0 11 393_397 -55 486 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000345843 Q06330 + 0 11 400_404 -55 486 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000345843 Q06330 + 0 11 408_411 -55 486 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000345843 Q06330 + 0 11 412_414 -55 486 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000345843 Q06330 + 0 11 426_430 -55 486 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000345843 Q06330 + 0 11 431_433 -55 486 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3NBN Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000345843 Q06330 + 0 11 435_437 -55 486 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342295 Q06330 + 0 12 1_500 -79 501 retained Chain ID=PRO_0000208567;Note=Recombining binding protein suppressor of hairless Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342295 Q06330 + 0 12 355_445 -79 501 retained Domain Note=IPT/TIG Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342295 Q06330 + 0 12 58_65 -79 501 retained DNA binding . Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342295 Q06330 + 0 12 192_201 -79 501 retained DNA binding . Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342295 Q06330 + 0 12 265_297 -79 501 retained DNA binding . Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342295 Q06330 + 0 12 175_175 -79 501 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P31266 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342295 Q06330 + 0 12 1_89 -79 501 retained Alternative sequence ID=VSP_002718;Note=In isoform APCR-3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8406481;Dbxref=PMID:8406481 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342295 Q06330 + 0 12 1_75 -79 501 retained Alternative sequence ID=VSP_002717;Note=In isoform APCR-1. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8406481;Dbxref=PMID:8406481 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342295 Q06330 + 0 12 1_35 -79 501 retained Alternative sequence ID=VSP_021572;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342295 Q06330 + 0 12 1_20 -79 501 retained Alternative sequence ID=VSP_021574;Note=In isoform 6. MDHTEGSPAEEPPAHAPSPG->MAWIKR;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342295 Q06330 + 0 12 1_20 -79 501 retained Alternative sequence ID=VSP_021574;Note=In isoform 6. MDHTEGSPAEEPPAHAPSPG->MAWIKR;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342295 Q06330 + 0 12 1_19 -79 501 retained Alternative sequence ID=VSP_042637;Note=In isoform 7. MDHTEGSPAEEPPAHAPSP->MAPVVT;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342295 Q06330 + 0 12 90_95 -79 501 retained Alternative sequence ID=VSP_002719;Note=In isoform APCR-3. DGCSEQ->MAWIKR;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8406481;Dbxref=PMID:8406481 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342295 Q06330 + 0 12 63_63 -79 501 retained Natural variant ID=VAR_068929;Note=In AOS3%3B shows decreased binding to the HES1 promoter compared to wild-type. E->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22883147;Dbxref=dbSNP:rs387907270,PMID:22883147 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342295 Q06330 + 0 12 169_169 -79 501 retained Natural variant ID=VAR_068930;Note=In AOS3%3B shows decreased binding to the HES1 promoter compared to wild-type. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22883147;Dbxref=dbSNP:rs387907271,PMID:22883147 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342295 Q06330 + 0 12 291_291 -79 501 retained Natural variant ID=VAR_028994;Note=K->E;Dbxref=dbSNP:rs1064372 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342295 Q06330 + 0 12 334_334 -79 501 retained Natural variant ID=VAR_028995;Note=D->H;Dbxref=dbSNP:rs1064376 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342295 Q06330 + 0 12 408_408 -79 501 retained Natural variant ID=VAR_057244;Note=I->V;Dbxref=dbSNP:rs1064381 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342295 Q06330 + 0 12 419_419 -79 501 retained Natural variant ID=VAR_028996;Note=R->Q;Dbxref=dbSNP:rs1064384 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342295 Q06330 + 0 12 425_425 -79 501 retained Natural variant ID=VAR_028997;Note=P->S;Dbxref=dbSNP:rs1064387 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342295 Q06330 + 0 12 456_456 -79 501 retained Natural variant ID=VAR_028998;Note=A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8406481;Dbxref=dbSNP:rs1064402,PMID:8406481 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342295 Q06330 + 0 12 7_7 -79 501 retained Sequence conflict Note=S->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342295 Q06330 + 0 12 7_7 -79 501 retained Sequence conflict Note=S->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342295 Q06330 + 0 12 7_7 -79 501 retained Sequence conflict Note=S->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342295 Q06330 + 0 12 140_141 -79 501 retained Sequence conflict Note=ML->IF;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342295 Q06330 + 0 12 240_240 -79 501 retained Sequence conflict Note=G->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342295 Q06330 + 0 12 248_248 -79 501 retained Sequence conflict Note=V->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342295 Q06330 + 0 12 265_265 -79 501 retained Sequence conflict Note=R->M;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342295 Q06330 + 0 12 270_270 -79 501 retained Sequence conflict Note=Q->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342295 Q06330 + 0 12 462_462 -79 501 retained Sequence conflict Note=R->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342295 Q06330 + 0 12 33_41 -79 501 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342295 Q06330 + 0 12 50_57 -79 501 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342295 Q06330 + 0 12 72_74 -79 501 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3NBN Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342295 Q06330 + 0 12 79_88 -79 501 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342295 Q06330 + 0 12 89_91 -79 501 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3NBN Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342295 Q06330 + 0 12 94_96 -79 501 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342295 Q06330 + 0 12 102_105 -79 501 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342295 Q06330 + 0 12 118_121 -79 501 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3NBN Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342295 Q06330 + 0 12 137_139 -79 501 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342295 Q06330 + 0 12 141_146 -79 501 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342295 Q06330 + 0 12 152_157 -79 501 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342295 Q06330 + 0 12 161_166 -79 501 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342295 Q06330 + 0 12 174_176 -79 501 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342295 Q06330 + 0 12 178_180 -79 501 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342295 Q06330 + 0 12 185_191 -79 501 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342295 Q06330 + 0 12 193_195 -79 501 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342295 Q06330 + 0 12 197_199 -79 501 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342295 Q06330 + 0 12 204_206 -79 501 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342295 Q06330 + 0 12 209_211 -79 501 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342295 Q06330 + 0 12 220_225 -79 501 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342295 Q06330 + 0 12 231_234 -79 501 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342295 Q06330 + 0 12 246_255 -79 501 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342295 Q06330 + 0 12 262_268 -79 501 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342295 Q06330 + 0 12 271_275 -79 501 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342295 Q06330 + 0 12 284_289 -79 501 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342295 Q06330 + 0 12 291_295 -79 501 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342295 Q06330 + 0 12 297_299 -79 501 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3NBN Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342295 Q06330 + 0 12 302_306 -79 501 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342295 Q06330 + 0 12 319_321 -79 501 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342295 Q06330 + 0 12 328_336 -79 501 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342295 Q06330 + 0 12 343_345 -79 501 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3NBN Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342295 Q06330 + 0 12 356_362 -79 501 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342295 Q06330 + 0 12 366_368 -79 501 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342295 Q06330 + 0 12 370_377 -79 501 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342295 Q06330 + 0 12 382_386 -79 501 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342295 Q06330 + 0 12 389_391 -79 501 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342295 Q06330 + 0 12 393_397 -79 501 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342295 Q06330 + 0 12 400_404 -79 501 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342295 Q06330 + 0 12 408_411 -79 501 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342295 Q06330 + 0 12 412_414 -79 501 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342295 Q06330 + 0 12 426_430 -79 501 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342295 Q06330 + 0 12 431_433 -79 501 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3NBN Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342295 Q06330 + 0 12 435_437 -79 501 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000361572 Q06330 + 0 11 1_500 -65 501 retained Chain ID=PRO_0000208567;Note=Recombining binding protein suppressor of hairless Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000361572 Q06330 + 0 11 355_445 -65 501 retained Domain Note=IPT/TIG Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000361572 Q06330 + 0 11 58_65 -65 501 retained DNA binding . Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000361572 Q06330 + 0 11 192_201 -65 501 retained DNA binding . Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000361572 Q06330 + 0 11 265_297 -65 501 retained DNA binding . Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000361572 Q06330 + 0 11 175_175 -65 501 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P31266 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000361572 Q06330 + 0 11 1_89 -65 501 retained Alternative sequence ID=VSP_002718;Note=In isoform APCR-3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8406481;Dbxref=PMID:8406481 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000361572 Q06330 + 0 11 1_75 -65 501 retained Alternative sequence ID=VSP_002717;Note=In isoform APCR-1. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8406481;Dbxref=PMID:8406481 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000361572 Q06330 + 0 11 1_35 -65 501 retained Alternative sequence ID=VSP_021572;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000361572 Q06330 + 0 11 1_20 -65 501 retained Alternative sequence ID=VSP_021574;Note=In isoform 6. MDHTEGSPAEEPPAHAPSPG->MAWIKR;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000361572 Q06330 + 0 11 1_20 -65 501 retained Alternative sequence ID=VSP_021574;Note=In isoform 6. MDHTEGSPAEEPPAHAPSPG->MAWIKR;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000361572 Q06330 + 0 11 1_19 -65 501 retained Alternative sequence ID=VSP_042637;Note=In isoform 7. MDHTEGSPAEEPPAHAPSP->MAPVVT;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000361572 Q06330 + 0 11 90_95 -65 501 retained Alternative sequence ID=VSP_002719;Note=In isoform APCR-3. DGCSEQ->MAWIKR;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8406481;Dbxref=PMID:8406481 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000361572 Q06330 + 0 11 63_63 -65 501 retained Natural variant ID=VAR_068929;Note=In AOS3%3B shows decreased binding to the HES1 promoter compared to wild-type. E->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22883147;Dbxref=dbSNP:rs387907270,PMID:22883147 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000361572 Q06330 + 0 11 169_169 -65 501 retained Natural variant ID=VAR_068930;Note=In AOS3%3B shows decreased binding to the HES1 promoter compared to wild-type. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22883147;Dbxref=dbSNP:rs387907271,PMID:22883147 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000361572 Q06330 + 0 11 291_291 -65 501 retained Natural variant ID=VAR_028994;Note=K->E;Dbxref=dbSNP:rs1064372 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000361572 Q06330 + 0 11 334_334 -65 501 retained Natural variant ID=VAR_028995;Note=D->H;Dbxref=dbSNP:rs1064376 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000361572 Q06330 + 0 11 408_408 -65 501 retained Natural variant ID=VAR_057244;Note=I->V;Dbxref=dbSNP:rs1064381 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000361572 Q06330 + 0 11 419_419 -65 501 retained Natural variant ID=VAR_028996;Note=R->Q;Dbxref=dbSNP:rs1064384 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000361572 Q06330 + 0 11 425_425 -65 501 retained Natural variant ID=VAR_028997;Note=P->S;Dbxref=dbSNP:rs1064387 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000361572 Q06330 + 0 11 456_456 -65 501 retained Natural variant ID=VAR_028998;Note=A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8406481;Dbxref=dbSNP:rs1064402,PMID:8406481 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000361572 Q06330 + 0 11 7_7 -65 501 retained Sequence conflict Note=S->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000361572 Q06330 + 0 11 7_7 -65 501 retained Sequence conflict Note=S->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000361572 Q06330 + 0 11 7_7 -65 501 retained Sequence conflict Note=S->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000361572 Q06330 + 0 11 140_141 -65 501 retained Sequence conflict Note=ML->IF;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000361572 Q06330 + 0 11 240_240 -65 501 retained Sequence conflict Note=G->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000361572 Q06330 + 0 11 248_248 -65 501 retained Sequence conflict Note=V->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000361572 Q06330 + 0 11 265_265 -65 501 retained Sequence conflict Note=R->M;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000361572 Q06330 + 0 11 270_270 -65 501 retained Sequence conflict Note=Q->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000361572 Q06330 + 0 11 462_462 -65 501 retained Sequence conflict Note=R->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000361572 Q06330 + 0 11 33_41 -65 501 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000361572 Q06330 + 0 11 50_57 -65 501 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000361572 Q06330 + 0 11 72_74 -65 501 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3NBN Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000361572 Q06330 + 0 11 79_88 -65 501 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000361572 Q06330 + 0 11 89_91 -65 501 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3NBN Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000361572 Q06330 + 0 11 94_96 -65 501 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000361572 Q06330 + 0 11 102_105 -65 501 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000361572 Q06330 + 0 11 118_121 -65 501 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3NBN Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000361572 Q06330 + 0 11 137_139 -65 501 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000361572 Q06330 + 0 11 141_146 -65 501 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000361572 Q06330 + 0 11 152_157 -65 501 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000361572 Q06330 + 0 11 161_166 -65 501 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000361572 Q06330 + 0 11 174_176 -65 501 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000361572 Q06330 + 0 11 178_180 -65 501 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000361572 Q06330 + 0 11 185_191 -65 501 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000361572 Q06330 + 0 11 193_195 -65 501 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000361572 Q06330 + 0 11 197_199 -65 501 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000361572 Q06330 + 0 11 204_206 -65 501 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000361572 Q06330 + 0 11 209_211 -65 501 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000361572 Q06330 + 0 11 220_225 -65 501 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000361572 Q06330 + 0 11 231_234 -65 501 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000361572 Q06330 + 0 11 246_255 -65 501 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000361572 Q06330 + 0 11 262_268 -65 501 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000361572 Q06330 + 0 11 271_275 -65 501 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000361572 Q06330 + 0 11 284_289 -65 501 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000361572 Q06330 + 0 11 291_295 -65 501 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000361572 Q06330 + 0 11 297_299 -65 501 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3NBN Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000361572 Q06330 + 0 11 302_306 -65 501 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000361572 Q06330 + 0 11 319_321 -65 501 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000361572 Q06330 + 0 11 328_336 -65 501 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000361572 Q06330 + 0 11 343_345 -65 501 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3NBN Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000361572 Q06330 + 0 11 356_362 -65 501 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000361572 Q06330 + 0 11 366_368 -65 501 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000361572 Q06330 + 0 11 370_377 -65 501 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000361572 Q06330 + 0 11 382_386 -65 501 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000361572 Q06330 + 0 11 389_391 -65 501 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000361572 Q06330 + 0 11 393_397 -65 501 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000361572 Q06330 + 0 11 400_404 -65 501 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000361572 Q06330 + 0 11 408_411 -65 501 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000361572 Q06330 + 0 11 412_414 -65 501 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000361572 Q06330 + 0 11 426_430 -65 501 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000361572 Q06330 + 0 11 431_433 -65 501 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3NBN Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000361572 Q06330 + 0 11 435_437 -65 501 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000348160 Q06330 + 0 11 1_500 -77 488 retained Chain ID=PRO_0000208567;Note=Recombining binding protein suppressor of hairless Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000348160 Q06330 + 0 11 355_445 -77 488 retained Domain Note=IPT/TIG Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000348160 Q06330 + 0 11 58_65 -77 488 retained DNA binding . Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000348160 Q06330 + 0 11 192_201 -77 488 retained DNA binding . Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000348160 Q06330 + 0 11 265_297 -77 488 retained DNA binding . Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000348160 Q06330 + 0 11 175_175 -77 488 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P31266 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000348160 Q06330 + 0 11 1_89 -77 488 retained Alternative sequence ID=VSP_002718;Note=In isoform APCR-3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8406481;Dbxref=PMID:8406481 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000348160 Q06330 + 0 11 1_75 -77 488 retained Alternative sequence ID=VSP_002717;Note=In isoform APCR-1. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8406481;Dbxref=PMID:8406481 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000348160 Q06330 + 0 11 1_35 -77 488 retained Alternative sequence ID=VSP_021572;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000348160 Q06330 + 0 11 1_20 -77 488 retained Alternative sequence ID=VSP_021574;Note=In isoform 6. MDHTEGSPAEEPPAHAPSPG->MAWIKR;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000348160 Q06330 + 0 11 1_20 -77 488 retained Alternative sequence ID=VSP_021574;Note=In isoform 6. MDHTEGSPAEEPPAHAPSPG->MAWIKR;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000348160 Q06330 + 0 11 1_19 -77 488 retained Alternative sequence ID=VSP_042637;Note=In isoform 7. MDHTEGSPAEEPPAHAPSP->MAPVVT;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000348160 Q06330 + 0 11 90_95 -77 488 retained Alternative sequence ID=VSP_002719;Note=In isoform APCR-3. DGCSEQ->MAWIKR;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8406481;Dbxref=PMID:8406481 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000348160 Q06330 + 0 11 63_63 -77 488 retained Natural variant ID=VAR_068929;Note=In AOS3%3B shows decreased binding to the HES1 promoter compared to wild-type. E->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22883147;Dbxref=dbSNP:rs387907270,PMID:22883147 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000348160 Q06330 + 0 11 169_169 -77 488 retained Natural variant ID=VAR_068930;Note=In AOS3%3B shows decreased binding to the HES1 promoter compared to wild-type. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22883147;Dbxref=dbSNP:rs387907271,PMID:22883147 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000348160 Q06330 + 0 11 291_291 -77 488 retained Natural variant ID=VAR_028994;Note=K->E;Dbxref=dbSNP:rs1064372 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000348160 Q06330 + 0 11 334_334 -77 488 retained Natural variant ID=VAR_028995;Note=D->H;Dbxref=dbSNP:rs1064376 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000348160 Q06330 + 0 11 408_408 -77 488 retained Natural variant ID=VAR_057244;Note=I->V;Dbxref=dbSNP:rs1064381 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000348160 Q06330 + 0 11 419_419 -77 488 retained Natural variant ID=VAR_028996;Note=R->Q;Dbxref=dbSNP:rs1064384 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000348160 Q06330 + 0 11 425_425 -77 488 retained Natural variant ID=VAR_028997;Note=P->S;Dbxref=dbSNP:rs1064387 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000348160 Q06330 + 0 11 456_456 -77 488 retained Natural variant ID=VAR_028998;Note=A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8406481;Dbxref=dbSNP:rs1064402,PMID:8406481 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000348160 Q06330 + 0 11 7_7 -77 488 retained Sequence conflict Note=S->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000348160 Q06330 + 0 11 7_7 -77 488 retained Sequence conflict Note=S->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000348160 Q06330 + 0 11 7_7 -77 488 retained Sequence conflict Note=S->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000348160 Q06330 + 0 11 140_141 -77 488 retained Sequence conflict Note=ML->IF;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000348160 Q06330 + 0 11 240_240 -77 488 retained Sequence conflict Note=G->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000348160 Q06330 + 0 11 248_248 -77 488 retained Sequence conflict Note=V->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000348160 Q06330 + 0 11 265_265 -77 488 retained Sequence conflict Note=R->M;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000348160 Q06330 + 0 11 270_270 -77 488 retained Sequence conflict Note=Q->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000348160 Q06330 + 0 11 462_462 -77 488 retained Sequence conflict Note=R->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000348160 Q06330 + 0 11 33_41 -77 488 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000348160 Q06330 + 0 11 50_57 -77 488 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000348160 Q06330 + 0 11 72_74 -77 488 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3NBN Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000348160 Q06330 + 0 11 79_88 -77 488 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000348160 Q06330 + 0 11 89_91 -77 488 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3NBN Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000348160 Q06330 + 0 11 94_96 -77 488 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000348160 Q06330 + 0 11 102_105 -77 488 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000348160 Q06330 + 0 11 118_121 -77 488 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3NBN Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000348160 Q06330 + 0 11 137_139 -77 488 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000348160 Q06330 + 0 11 141_146 -77 488 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000348160 Q06330 + 0 11 152_157 -77 488 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000348160 Q06330 + 0 11 161_166 -77 488 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000348160 Q06330 + 0 11 174_176 -77 488 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000348160 Q06330 + 0 11 178_180 -77 488 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000348160 Q06330 + 0 11 185_191 -77 488 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000348160 Q06330 + 0 11 193_195 -77 488 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000348160 Q06330 + 0 11 197_199 -77 488 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000348160 Q06330 + 0 11 204_206 -77 488 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000348160 Q06330 + 0 11 209_211 -77 488 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000348160 Q06330 + 0 11 220_225 -77 488 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000348160 Q06330 + 0 11 231_234 -77 488 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000348160 Q06330 + 0 11 246_255 -77 488 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000348160 Q06330 + 0 11 262_268 -77 488 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000348160 Q06330 + 0 11 271_275 -77 488 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000348160 Q06330 + 0 11 284_289 -77 488 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000348160 Q06330 + 0 11 291_295 -77 488 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000348160 Q06330 + 0 11 297_299 -77 488 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3NBN Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000348160 Q06330 + 0 11 302_306 -77 488 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000348160 Q06330 + 0 11 319_321 -77 488 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000348160 Q06330 + 0 11 328_336 -77 488 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000348160 Q06330 + 0 11 343_345 -77 488 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3NBN Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000348160 Q06330 + 0 11 356_362 -77 488 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000348160 Q06330 + 0 11 366_368 -77 488 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000348160 Q06330 + 0 11 370_377 -77 488 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000348160 Q06330 + 0 11 382_386 -77 488 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000348160 Q06330 + 0 11 389_391 -77 488 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000348160 Q06330 + 0 11 393_397 -77 488 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000348160 Q06330 + 0 11 400_404 -77 488 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000348160 Q06330 + 0 11 408_411 -77 488 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000348160 Q06330 + 0 11 412_414 -77 488 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000348160 Q06330 + 0 11 426_430 -77 488 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000348160 Q06330 + 0 11 431_433 -77 488 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3NBN Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000348160 Q06330 + 0 11 435_437 -77 488 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000355476 Q06330 + 0 12 1_500 -56 487 retained Chain ID=PRO_0000208567;Note=Recombining binding protein suppressor of hairless Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000355476 Q06330 + 0 12 355_445 -56 487 retained Domain Note=IPT/TIG Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000355476 Q06330 + 0 12 58_65 -56 487 retained DNA binding . Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000355476 Q06330 + 0 12 192_201 -56 487 retained DNA binding . Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000355476 Q06330 + 0 12 265_297 -56 487 retained DNA binding . Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000355476 Q06330 + 0 12 175_175 -56 487 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P31266 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000355476 Q06330 + 0 12 1_89 -56 487 retained Alternative sequence ID=VSP_002718;Note=In isoform APCR-3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8406481;Dbxref=PMID:8406481 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000355476 Q06330 + 0 12 1_75 -56 487 retained Alternative sequence ID=VSP_002717;Note=In isoform APCR-1. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8406481;Dbxref=PMID:8406481 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000355476 Q06330 + 0 12 1_35 -56 487 retained Alternative sequence ID=VSP_021572;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000355476 Q06330 + 0 12 1_20 -56 487 retained Alternative sequence ID=VSP_021574;Note=In isoform 6. MDHTEGSPAEEPPAHAPSPG->MAWIKR;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000355476 Q06330 + 0 12 1_20 -56 487 retained Alternative sequence ID=VSP_021574;Note=In isoform 6. MDHTEGSPAEEPPAHAPSPG->MAWIKR;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000355476 Q06330 + 0 12 1_19 -56 487 retained Alternative sequence ID=VSP_042637;Note=In isoform 7. MDHTEGSPAEEPPAHAPSP->MAPVVT;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000355476 Q06330 + 0 12 90_95 -56 487 retained Alternative sequence ID=VSP_002719;Note=In isoform APCR-3. DGCSEQ->MAWIKR;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8406481;Dbxref=PMID:8406481 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000355476 Q06330 + 0 12 63_63 -56 487 retained Natural variant ID=VAR_068929;Note=In AOS3%3B shows decreased binding to the HES1 promoter compared to wild-type. E->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22883147;Dbxref=dbSNP:rs387907270,PMID:22883147 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000355476 Q06330 + 0 12 169_169 -56 487 retained Natural variant ID=VAR_068930;Note=In AOS3%3B shows decreased binding to the HES1 promoter compared to wild-type. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22883147;Dbxref=dbSNP:rs387907271,PMID:22883147 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000355476 Q06330 + 0 12 291_291 -56 487 retained Natural variant ID=VAR_028994;Note=K->E;Dbxref=dbSNP:rs1064372 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000355476 Q06330 + 0 12 334_334 -56 487 retained Natural variant ID=VAR_028995;Note=D->H;Dbxref=dbSNP:rs1064376 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000355476 Q06330 + 0 12 408_408 -56 487 retained Natural variant ID=VAR_057244;Note=I->V;Dbxref=dbSNP:rs1064381 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000355476 Q06330 + 0 12 419_419 -56 487 retained Natural variant ID=VAR_028996;Note=R->Q;Dbxref=dbSNP:rs1064384 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000355476 Q06330 + 0 12 425_425 -56 487 retained Natural variant ID=VAR_028997;Note=P->S;Dbxref=dbSNP:rs1064387 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000355476 Q06330 + 0 12 456_456 -56 487 retained Natural variant ID=VAR_028998;Note=A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8406481;Dbxref=dbSNP:rs1064402,PMID:8406481 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000355476 Q06330 + 0 12 7_7 -56 487 retained Sequence conflict Note=S->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000355476 Q06330 + 0 12 7_7 -56 487 retained Sequence conflict Note=S->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000355476 Q06330 + 0 12 7_7 -56 487 retained Sequence conflict Note=S->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000355476 Q06330 + 0 12 140_141 -56 487 retained Sequence conflict Note=ML->IF;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000355476 Q06330 + 0 12 240_240 -56 487 retained Sequence conflict Note=G->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000355476 Q06330 + 0 12 248_248 -56 487 retained Sequence conflict Note=V->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000355476 Q06330 + 0 12 265_265 -56 487 retained Sequence conflict Note=R->M;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000355476 Q06330 + 0 12 270_270 -56 487 retained Sequence conflict Note=Q->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000355476 Q06330 + 0 12 462_462 -56 487 retained Sequence conflict Note=R->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000355476 Q06330 + 0 12 33_41 -56 487 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000355476 Q06330 + 0 12 50_57 -56 487 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000355476 Q06330 + 0 12 72_74 -56 487 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3NBN Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000355476 Q06330 + 0 12 79_88 -56 487 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000355476 Q06330 + 0 12 89_91 -56 487 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3NBN Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000355476 Q06330 + 0 12 94_96 -56 487 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000355476 Q06330 + 0 12 102_105 -56 487 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000355476 Q06330 + 0 12 118_121 -56 487 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3NBN Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000355476 Q06330 + 0 12 137_139 -56 487 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000355476 Q06330 + 0 12 141_146 -56 487 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000355476 Q06330 + 0 12 152_157 -56 487 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000355476 Q06330 + 0 12 161_166 -56 487 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000355476 Q06330 + 0 12 174_176 -56 487 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000355476 Q06330 + 0 12 178_180 -56 487 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000355476 Q06330 + 0 12 185_191 -56 487 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000355476 Q06330 + 0 12 193_195 -56 487 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000355476 Q06330 + 0 12 197_199 -56 487 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000355476 Q06330 + 0 12 204_206 -56 487 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000355476 Q06330 + 0 12 209_211 -56 487 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000355476 Q06330 + 0 12 220_225 -56 487 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000355476 Q06330 + 0 12 231_234 -56 487 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000355476 Q06330 + 0 12 246_255 -56 487 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000355476 Q06330 + 0 12 262_268 -56 487 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000355476 Q06330 + 0 12 271_275 -56 487 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000355476 Q06330 + 0 12 284_289 -56 487 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000355476 Q06330 + 0 12 291_295 -56 487 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000355476 Q06330 + 0 12 297_299 -56 487 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3NBN Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000355476 Q06330 + 0 12 302_306 -56 487 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000355476 Q06330 + 0 12 319_321 -56 487 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000355476 Q06330 + 0 12 328_336 -56 487 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000355476 Q06330 + 0 12 343_345 -56 487 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3NBN Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000355476 Q06330 + 0 12 356_362 -56 487 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000355476 Q06330 + 0 12 366_368 -56 487 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000355476 Q06330 + 0 12 370_377 -56 487 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000355476 Q06330 + 0 12 382_386 -56 487 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000355476 Q06330 + 0 12 389_391 -56 487 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000355476 Q06330 + 0 12 393_397 -56 487 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000355476 Q06330 + 0 12 400_404 -56 487 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000355476 Q06330 + 0 12 408_411 -56 487 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000355476 Q06330 + 0 12 412_414 -56 487 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000355476 Q06330 + 0 12 426_430 -56 487 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000355476 Q06330 + 0 12 431_433 -56 487 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3NBN Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000355476 Q06330 + 0 12 435_437 -56 487 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000507561 Q06330 + 0 11 1_500 -39 466 retained Chain ID=PRO_0000208567;Note=Recombining binding protein suppressor of hairless Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000507561 Q06330 + 0 11 355_445 -39 466 retained Domain Note=IPT/TIG Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000507561 Q06330 + 0 11 58_65 -39 466 retained DNA binding . Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000507561 Q06330 + 0 11 192_201 -39 466 retained DNA binding . Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000507561 Q06330 + 0 11 265_297 -39 466 retained DNA binding . Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000507561 Q06330 + 0 11 175_175 -39 466 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P31266 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000507561 Q06330 + 0 11 1_89 -39 466 retained Alternative sequence ID=VSP_002718;Note=In isoform APCR-3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8406481;Dbxref=PMID:8406481 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000507561 Q06330 + 0 11 1_75 -39 466 retained Alternative sequence ID=VSP_002717;Note=In isoform APCR-1. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8406481;Dbxref=PMID:8406481 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000507561 Q06330 + 0 11 1_35 -39 466 retained Alternative sequence ID=VSP_021572;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000507561 Q06330 + 0 11 1_20 -39 466 retained Alternative sequence ID=VSP_021574;Note=In isoform 6. MDHTEGSPAEEPPAHAPSPG->MAWIKR;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000507561 Q06330 + 0 11 1_20 -39 466 retained Alternative sequence ID=VSP_021574;Note=In isoform 6. MDHTEGSPAEEPPAHAPSPG->MAWIKR;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000507561 Q06330 + 0 11 1_19 -39 466 retained Alternative sequence ID=VSP_042637;Note=In isoform 7. MDHTEGSPAEEPPAHAPSP->MAPVVT;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000507561 Q06330 + 0 11 90_95 -39 466 retained Alternative sequence ID=VSP_002719;Note=In isoform APCR-3. DGCSEQ->MAWIKR;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8406481;Dbxref=PMID:8406481 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000507561 Q06330 + 0 11 63_63 -39 466 retained Natural variant ID=VAR_068929;Note=In AOS3%3B shows decreased binding to the HES1 promoter compared to wild-type. E->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22883147;Dbxref=dbSNP:rs387907270,PMID:22883147 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000507561 Q06330 + 0 11 169_169 -39 466 retained Natural variant ID=VAR_068930;Note=In AOS3%3B shows decreased binding to the HES1 promoter compared to wild-type. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22883147;Dbxref=dbSNP:rs387907271,PMID:22883147 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000507561 Q06330 + 0 11 291_291 -39 466 retained Natural variant ID=VAR_028994;Note=K->E;Dbxref=dbSNP:rs1064372 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000507561 Q06330 + 0 11 334_334 -39 466 retained Natural variant ID=VAR_028995;Note=D->H;Dbxref=dbSNP:rs1064376 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000507561 Q06330 + 0 11 408_408 -39 466 retained Natural variant ID=VAR_057244;Note=I->V;Dbxref=dbSNP:rs1064381 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000507561 Q06330 + 0 11 419_419 -39 466 retained Natural variant ID=VAR_028996;Note=R->Q;Dbxref=dbSNP:rs1064384 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000507561 Q06330 + 0 11 425_425 -39 466 retained Natural variant ID=VAR_028997;Note=P->S;Dbxref=dbSNP:rs1064387 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000507561 Q06330 + 0 11 456_456 -39 466 retained Natural variant ID=VAR_028998;Note=A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8406481;Dbxref=dbSNP:rs1064402,PMID:8406481 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000507561 Q06330 + 0 11 7_7 -39 466 retained Sequence conflict Note=S->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000507561 Q06330 + 0 11 7_7 -39 466 retained Sequence conflict Note=S->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000507561 Q06330 + 0 11 7_7 -39 466 retained Sequence conflict Note=S->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000507561 Q06330 + 0 11 140_141 -39 466 retained Sequence conflict Note=ML->IF;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000507561 Q06330 + 0 11 240_240 -39 466 retained Sequence conflict Note=G->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000507561 Q06330 + 0 11 248_248 -39 466 retained Sequence conflict Note=V->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000507561 Q06330 + 0 11 265_265 -39 466 retained Sequence conflict Note=R->M;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000507561 Q06330 + 0 11 270_270 -39 466 retained Sequence conflict Note=Q->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000507561 Q06330 + 0 11 462_462 -39 466 retained Sequence conflict Note=R->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000507561 Q06330 + 0 11 33_41 -39 466 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000507561 Q06330 + 0 11 50_57 -39 466 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000507561 Q06330 + 0 11 72_74 -39 466 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3NBN Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000507561 Q06330 + 0 11 79_88 -39 466 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000507561 Q06330 + 0 11 89_91 -39 466 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3NBN Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000507561 Q06330 + 0 11 94_96 -39 466 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000507561 Q06330 + 0 11 102_105 -39 466 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000507561 Q06330 + 0 11 118_121 -39 466 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3NBN Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000507561 Q06330 + 0 11 137_139 -39 466 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000507561 Q06330 + 0 11 141_146 -39 466 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000507561 Q06330 + 0 11 152_157 -39 466 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000507561 Q06330 + 0 11 161_166 -39 466 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000507561 Q06330 + 0 11 174_176 -39 466 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000507561 Q06330 + 0 11 178_180 -39 466 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000507561 Q06330 + 0 11 185_191 -39 466 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000507561 Q06330 + 0 11 193_195 -39 466 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000507561 Q06330 + 0 11 197_199 -39 466 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000507561 Q06330 + 0 11 204_206 -39 466 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000507561 Q06330 + 0 11 209_211 -39 466 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000507561 Q06330 + 0 11 220_225 -39 466 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000507561 Q06330 + 0 11 231_234 -39 466 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000507561 Q06330 + 0 11 246_255 -39 466 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000507561 Q06330 + 0 11 262_268 -39 466 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000507561 Q06330 + 0 11 271_275 -39 466 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000507561 Q06330 + 0 11 284_289 -39 466 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000507561 Q06330 + 0 11 291_295 -39 466 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000507561 Q06330 + 0 11 297_299 -39 466 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3NBN Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000507561 Q06330 + 0 11 302_306 -39 466 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000507561 Q06330 + 0 11 319_321 -39 466 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000507561 Q06330 + 0 11 328_336 -39 466 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000507561 Q06330 + 0 11 343_345 -39 466 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3NBN Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000507561 Q06330 + 0 11 356_362 -39 466 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000507561 Q06330 + 0 11 366_368 -39 466 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000507561 Q06330 + 0 11 370_377 -39 466 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000507561 Q06330 + 0 11 382_386 -39 466 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000507561 Q06330 + 0 11 389_391 -39 466 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000507561 Q06330 + 0 11 393_397 -39 466 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000507561 Q06330 + 0 11 400_404 -39 466 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000507561 Q06330 + 0 11 408_411 -39 466 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000507561 Q06330 + 0 11 412_414 -39 466 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000507561 Q06330 + 0 11 426_430 -39 466 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000507561 Q06330 + 0 11 431_433 -39 466 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3NBN Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000507561 Q06330 + 0 11 435_437 -39 466 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342320 Q06330 + 0 11 1_500 -59 487 retained Chain ID=PRO_0000208567;Note=Recombining binding protein suppressor of hairless Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342320 Q06330 + 0 11 355_445 -59 487 retained Domain Note=IPT/TIG Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342320 Q06330 + 0 11 58_65 -59 487 retained DNA binding . Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342320 Q06330 + 0 11 192_201 -59 487 retained DNA binding . Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342320 Q06330 + 0 11 265_297 -59 487 retained DNA binding . Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342320 Q06330 + 0 11 175_175 -59 487 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P31266 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342320 Q06330 + 0 11 1_89 -59 487 retained Alternative sequence ID=VSP_002718;Note=In isoform APCR-3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8406481;Dbxref=PMID:8406481 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342320 Q06330 + 0 11 1_75 -59 487 retained Alternative sequence ID=VSP_002717;Note=In isoform APCR-1. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8406481;Dbxref=PMID:8406481 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342320 Q06330 + 0 11 1_35 -59 487 retained Alternative sequence ID=VSP_021572;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342320 Q06330 + 0 11 1_20 -59 487 retained Alternative sequence ID=VSP_021574;Note=In isoform 6. MDHTEGSPAEEPPAHAPSPG->MAWIKR;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342320 Q06330 + 0 11 1_20 -59 487 retained Alternative sequence ID=VSP_021574;Note=In isoform 6. MDHTEGSPAEEPPAHAPSPG->MAWIKR;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342320 Q06330 + 0 11 1_19 -59 487 retained Alternative sequence ID=VSP_042637;Note=In isoform 7. MDHTEGSPAEEPPAHAPSP->MAPVVT;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342320 Q06330 + 0 11 90_95 -59 487 retained Alternative sequence ID=VSP_002719;Note=In isoform APCR-3. DGCSEQ->MAWIKR;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8406481;Dbxref=PMID:8406481 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342320 Q06330 + 0 11 63_63 -59 487 retained Natural variant ID=VAR_068929;Note=In AOS3%3B shows decreased binding to the HES1 promoter compared to wild-type. E->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22883147;Dbxref=dbSNP:rs387907270,PMID:22883147 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342320 Q06330 + 0 11 169_169 -59 487 retained Natural variant ID=VAR_068930;Note=In AOS3%3B shows decreased binding to the HES1 promoter compared to wild-type. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22883147;Dbxref=dbSNP:rs387907271,PMID:22883147 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342320 Q06330 + 0 11 291_291 -59 487 retained Natural variant ID=VAR_028994;Note=K->E;Dbxref=dbSNP:rs1064372 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342320 Q06330 + 0 11 334_334 -59 487 retained Natural variant ID=VAR_028995;Note=D->H;Dbxref=dbSNP:rs1064376 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342320 Q06330 + 0 11 408_408 -59 487 retained Natural variant ID=VAR_057244;Note=I->V;Dbxref=dbSNP:rs1064381 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342320 Q06330 + 0 11 419_419 -59 487 retained Natural variant ID=VAR_028996;Note=R->Q;Dbxref=dbSNP:rs1064384 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342320 Q06330 + 0 11 425_425 -59 487 retained Natural variant ID=VAR_028997;Note=P->S;Dbxref=dbSNP:rs1064387 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342320 Q06330 + 0 11 456_456 -59 487 retained Natural variant ID=VAR_028998;Note=A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8406481;Dbxref=dbSNP:rs1064402,PMID:8406481 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342320 Q06330 + 0 11 7_7 -59 487 retained Sequence conflict Note=S->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342320 Q06330 + 0 11 7_7 -59 487 retained Sequence conflict Note=S->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342320 Q06330 + 0 11 7_7 -59 487 retained Sequence conflict Note=S->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342320 Q06330 + 0 11 140_141 -59 487 retained Sequence conflict Note=ML->IF;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342320 Q06330 + 0 11 240_240 -59 487 retained Sequence conflict Note=G->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342320 Q06330 + 0 11 248_248 -59 487 retained Sequence conflict Note=V->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342320 Q06330 + 0 11 265_265 -59 487 retained Sequence conflict Note=R->M;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342320 Q06330 + 0 11 270_270 -59 487 retained Sequence conflict Note=Q->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342320 Q06330 + 0 11 462_462 -59 487 retained Sequence conflict Note=R->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342320 Q06330 + 0 11 33_41 -59 487 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342320 Q06330 + 0 11 50_57 -59 487 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342320 Q06330 + 0 11 72_74 -59 487 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3NBN Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342320 Q06330 + 0 11 79_88 -59 487 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342320 Q06330 + 0 11 89_91 -59 487 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3NBN Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342320 Q06330 + 0 11 94_96 -59 487 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342320 Q06330 + 0 11 102_105 -59 487 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342320 Q06330 + 0 11 118_121 -59 487 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3NBN Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342320 Q06330 + 0 11 137_139 -59 487 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342320 Q06330 + 0 11 141_146 -59 487 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342320 Q06330 + 0 11 152_157 -59 487 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342320 Q06330 + 0 11 161_166 -59 487 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342320 Q06330 + 0 11 174_176 -59 487 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342320 Q06330 + 0 11 178_180 -59 487 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342320 Q06330 + 0 11 185_191 -59 487 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342320 Q06330 + 0 11 193_195 -59 487 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342320 Q06330 + 0 11 197_199 -59 487 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342320 Q06330 + 0 11 204_206 -59 487 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342320 Q06330 + 0 11 209_211 -59 487 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342320 Q06330 + 0 11 220_225 -59 487 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342320 Q06330 + 0 11 231_234 -59 487 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342320 Q06330 + 0 11 246_255 -59 487 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342320 Q06330 + 0 11 262_268 -59 487 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342320 Q06330 + 0 11 271_275 -59 487 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342320 Q06330 + 0 11 284_289 -59 487 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342320 Q06330 + 0 11 291_295 -59 487 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342320 Q06330 + 0 11 297_299 -59 487 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3NBN Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342320 Q06330 + 0 11 302_306 -59 487 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342320 Q06330 + 0 11 319_321 -59 487 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342320 Q06330 + 0 11 328_336 -59 487 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342320 Q06330 + 0 11 343_345 -59 487 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3NBN Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342320 Q06330 + 0 11 356_362 -59 487 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342320 Q06330 + 0 11 366_368 -59 487 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342320 Q06330 + 0 11 370_377 -59 487 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342320 Q06330 + 0 11 382_386 -59 487 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342320 Q06330 + 0 11 389_391 -59 487 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342320 Q06330 + 0 11 393_397 -59 487 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342320 Q06330 + 0 11 400_404 -59 487 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342320 Q06330 + 0 11 408_411 -59 487 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342320 Q06330 + 0 11 412_414 -59 487 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342320 Q06330 + 0 11 426_430 -59 487 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342320 Q06330 + 0 11 431_433 -59 487 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3NBN Tgene 5UTR-intron DC301955 ChiTaRS TEKT4P2 chr21:9966322 RBPJ chr4:26364067 ENST00000342320 Q06330 + 0 11 435_437 -59 487 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F8X Tgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000545391 Q9H7P6 + 0 6 1_319 -27 222 retained Chain ID=PRO_0000249074;Note=Multivesicular body subunit 12B Tgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000545391 Q9H7P6 + 0 6 47_193 -27 222 retained Domain Note=MABP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00831 Tgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000545391 Q9H7P6 + 0 6 254_303 -27 222 retained Domain Note=UMA;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00830 Tgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000545391 Q9H7P6 + 0 6 46_46 -27 222 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18005716;Dbxref=PMID:18005716 Tgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000545391 Q9H7P6 + 0 6 101_101 -27 222 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18005716;Dbxref=PMID:18005716 Tgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000545391 Q9H7P6 + 0 6 122_122 -27 222 retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18005716;Dbxref=PMID:18005716 Tgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000545391 Q9H7P6 + 0 6 204_204 -27 222 retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18005716;Dbxref=PMID:18005716 Tgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000545391 Q9H7P6 + 0 6 205_205 -27 222 retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18005716;Dbxref=PMID:18005716 Tgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000545391 Q9H7P6 + 0 6 224_224 -27 222 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q6KAU4 Tgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000545391 Q9H7P6 + 0 6 309_309 -27 222 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18005716;Dbxref=PMID:18005716 Tgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000545391 Q9H7P6 + 0 6 222_319 -27 222 retained Alternative sequence ID=VSP_020364;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000545391 Q9H7P6 + 0 6 52_58 -27 222 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3TOW Tgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000545391 Q9H7P6 + 0 6 93_97 -27 222 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3TOW Tgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000545391 Q9H7P6 + 0 6 105_107 -27 222 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3TOW Tgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000545391 Q9H7P6 + 0 6 109_118 -27 222 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3TOW Tgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000545391 Q9H7P6 + 0 6 134_136 -27 222 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3TOW Tgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000545391 Q9H7P6 + 0 6 142_152 -27 222 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3TOW Tgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000545391 Q9H7P6 + 0 6 153_155 -27 222 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3TOW Tgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000545391 Q9H7P6 + 0 6 159_167 -27 222 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3TOW Tgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000545391 Q9H7P6 + 0 6 176_182 -27 222 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3TOW Tgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000545391 Q9H7P6 + 0 6 185_192 -27 222 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3TOW Tgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000361171 Q9H7P6 + 5 10 1_319 220 320 not_retained Chain ID=PRO_0000249074;Note=Multivesicular body subunit 12B Tgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000361171 Q9H7P6 + 5 10 47_193 220 320 not_retained Domain Note=MABP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00831 Tgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000361171 Q9H7P6 + 5 10 254_303 220 320 retained Domain Note=UMA;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00830 Tgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000361171 Q9H7P6 + 5 10 46_46 220 320 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18005716;Dbxref=PMID:18005716 Tgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000361171 Q9H7P6 + 5 10 101_101 220 320 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18005716;Dbxref=PMID:18005716 Tgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000361171 Q9H7P6 + 5 10 122_122 220 320 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18005716;Dbxref=PMID:18005716 Tgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000361171 Q9H7P6 + 5 10 204_204 220 320 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18005716;Dbxref=PMID:18005716 Tgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000361171 Q9H7P6 + 5 10 205_205 220 320 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18005716;Dbxref=PMID:18005716 Tgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000361171 Q9H7P6 + 5 10 224_224 220 320 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q6KAU4 Tgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000361171 Q9H7P6 + 5 10 309_309 220 320 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18005716;Dbxref=PMID:18005716 Tgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000361171 Q9H7P6 + 5 10 222_319 220 320 retained Alternative sequence ID=VSP_020364;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000361171 Q9H7P6 + 5 10 52_58 220 320 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3TOW Tgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000361171 Q9H7P6 + 5 10 93_97 220 320 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3TOW Tgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000361171 Q9H7P6 + 5 10 105_107 220 320 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3TOW Tgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000361171 Q9H7P6 + 5 10 109_118 220 320 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3TOW Tgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000361171 Q9H7P6 + 5 10 134_136 220 320 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3TOW Tgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000361171 Q9H7P6 + 5 10 142_152 220 320 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3TOW Tgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000361171 Q9H7P6 + 5 10 153_155 220 320 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3TOW Tgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000361171 Q9H7P6 + 5 10 159_167 220 320 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3TOW Tgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000361171 Q9H7P6 + 5 10 176_182 220 320 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3TOW Tgene 5UTR-intron DA310064 ChiTaRS ZBTB43 chr9:129567412 MVB12B chr9:129184130 ENST00000361171 Q9H7P6 + 5 10 185_192 220 320 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3TOW Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1_3969 1444 3973 not_retained Chain ID=PRO_0000124876;Note=Histone-lysine N-methyltransferase 2A Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1_2718 1444 3973 not_retained Chain ID=PRO_0000390949;Note=MLL cleavage product N320 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 2719_3969 1444 3973 retained Chain ID=PRO_0000390950;Note=MLL cleavage product C180 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1703_1748 1444 3973 retained Domain Note=Bromo%3B divergent;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00035 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 2018_2074 1444 3973 retained Domain Note=FYR N-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00875 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 3666_3747 1444 3973 retained Domain Note=FYR C-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00876 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 3829_3945 1444 3973 retained Domain Note=SET;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00190 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 3953_3969 1444 3973 retained Domain Note=Post-SET;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00155 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 169_180 1444 3973 not_retained DNA binding Note=A.T hook 1 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 217_227 1444 3973 not_retained DNA binding Note=A.T hook 2 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 301_309 1444 3973 not_retained DNA binding Note=A.T hook 3 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1147_1195 1444 3973 not_retained Zinc finger Note=CXXC-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00509 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1431_1482 1444 3973 not_retained Zinc finger Note=PHD-type 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00146 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1479_1533 1444 3973 retained Zinc finger Note=PHD-type 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00146 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1566_1627 1444 3973 retained Zinc finger Note=PHD-type 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00146 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1870_1910 1444 3973 retained Zinc finger Note=C2HC pre-PHD-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01146 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1931_1978 1444 3973 retained Zinc finger Note=PHD-type 4;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01146 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1584_1600 1444 3973 retained Region Note=Interaction with histone H3K4me3;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20677832;Dbxref=PMID:20677832 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 3764_3771 1444 3973 retained Region Note=Interaction with WDR5;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18829459;Dbxref=PMID:18829459 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 3906_3907 1444 3973 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 2847_2855 1444 3973 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5SVH Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 17_102 1444 3973 not_retained Compositional bias Note=Ala/Gly/Ser-rich Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 137_143 1444 3973 not_retained Compositional bias Note=Poly-Gly Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 561_564 1444 3973 not_retained Compositional bias Note=Poly-Pro Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 568_571 1444 3973 not_retained Compositional bias Note=Poly-Pro Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 3909_3909 1444 3973 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 3957_3957 1444 3973 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 3959_3959 1444 3973 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 3964_3964 1444 3973 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 3839_3839 1444 3973 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 3841_3841 1444 3973 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 3883_3883 1444 3973 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 3958_3958 1444 3973 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1334_1335 1444 3973 not_retained Site Note=Breakpoint for translocation to form KMT2A-ZFYVE19 oncogene Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1362_1363 1444 3973 not_retained Site Note=Breakpoint for translocation to form KMT2A-CENPK oncogene Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1362_1363 1444 3973 not_retained Site Note=Breakpoint for translocation to form KMT2A-CENPK oncogene Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1362_1362 1444 3973 not_retained Site Note=Breakpoint for translocation to form KMT2A-FRYL fusion protein Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1406_1407 1444 3973 not_retained Site Note=Breakpoint for translocation to form KMT2A-AFF4 fusion protein Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1444_1445 1444 3973 retained Site Note=Breakpoint for translocation to form KMT2A-LPP Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1444_1445 1444 3973 retained Site Note=Breakpoint for translocation to form KMT2A-LPP Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 2666_2667 1444 3973 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 2718_2719 1444 3973 retained Site Note=Cleavage%3B by TASP1%2C site 2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14636557;Dbxref=PMID:14636557 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 3765_3765 1444 3973 retained Site Note=Important for WDR5-recognition and binding;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19556245;Dbxref=PMID:19556245 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 153_153 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:20068231;Dbxref=PMID:18669648,PMID:19690332,PMID:20068231 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 197_197 1444 3973 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 239_239 1444 3973 not_retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P55200 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 373_373 1444 3973 not_retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P55200 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 518_518 1444 3973 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 636_636 1444 3973 not_retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 680_680 1444 3973 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 840_840 1444 3973 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 926_926 1444 3973 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:20068231;Dbxref=PMID:20068231 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1056_1056 1444 3973 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1130_1130 1444 3973 not_retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1235_1235 1444 3973 not_retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1837_1837 1444 3973 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1845_1845 1444 3973 retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1858_1858 1444 3973 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 2098_2098 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:23186163;Dbxref=PMID:18669648,PMID:19690332,PMID:23186163 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 2147_2147 1444 3973 retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 2151_2151 1444 3973 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 2201_2201 1444 3973 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:21406692;Dbxref=PMID:21406692 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 2525_2525 1444 3973 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 2611_2611 1444 3973 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 2796_2796 1444 3973 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 2955_2955 1444 3973 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 2958_2958 1444 3973 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P55200 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 3036_3036 1444 3973 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 3372_3372 1444 3973 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 3462_3462 1444 3973 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P55200 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 3511_3511 1444 3973 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 3515_3515 1444 3973 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19690332;Dbxref=PMID:19690332 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 3527_3527 1444 3973 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 2528_2528 1444 3973 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1407_1444 1444 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1603_1603 1444 3973 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 30_30 1444 3973 not_retained Natural variant ID=VAR_021317;Note=A->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8703835;Dbxref=dbSNP:rs9332745,PMID:8703835 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 53_53 1444 3973 not_retained Natural variant ID=VAR_021318;Note=A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332747 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 502_502 1444 3973 not_retained Natural variant ID=VAR_021319;Note=E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332772 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1975_1975 1444 3973 retained Natural variant ID=VAR_052652;Note=Q->P;Dbxref=dbSNP:rs693598 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 2319_2319 1444 3973 retained Natural variant ID=VAR_021320;Note=S->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332837 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 2354_2354 1444 3973 retained Natural variant ID=VAR_021321;Note=P->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332838 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 2387_2387 1444 3973 retained Natural variant ID=VAR_021322;Note=Q->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332839 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 3714_3714 1444 3973 retained Natural variant ID=VAR_021323;Note=V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332859 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 3773_3773 1444 3973 retained Natural variant ID=VAR_021324;Note=S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332861 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1150_1150 1444 3973 not_retained Mutagenesis Note=Impairs DNA-binding. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20010842;Dbxref=PMID:20010842 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1151_1151 1444 3973 not_retained Mutagenesis Note=Impairs DNA-binding. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1153_1153 1444 3973 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1154_1154 1444 3973 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1155_1155 1444 3973 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1158_1158 1444 3973 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1161_1161 1444 3973 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1162_1162 1444 3973 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1166_1166 1444 3973 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1167_1167 1444 3973 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1170_1170 1444 3973 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1172_1172 1444 3973 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1173_1173 1444 3973 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1175_1175 1444 3973 not_retained Mutagenesis Note=Impairs DNA-binding. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1176_1176 1444 3973 not_retained Mutagenesis Note=Impairs DNA-binding. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1178_1181 1444 3973 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1178_1178 1444 3973 not_retained Mutagenesis Note=Impairs DNA-binding. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1179_1179 1444 3973 not_retained Mutagenesis Note=Impairs DNA-binding. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1183_1183 1444 3973 not_retained Mutagenesis Note=Impairs DNA-binding. N->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1185_1185 1444 3973 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1186_1186 1444 3973 not_retained Mutagenesis Note=Impairs DNA-binding. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1187_1187 1444 3973 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1188_1188 1444 3973 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1188_1188 1444 3973 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1189_1189 1444 3973 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1192_1192 1444 3973 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1193_1193 1444 3973 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1194_1194 1444 3973 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1195_1195 1444 3973 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1196_1196 1444 3973 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1197_1197 1444 3973 not_retained Mutagenesis Note=Mildly decreases DNA-binding. L->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20010842;Dbxref=PMID:20010842 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1200_1200 1444 3973 not_retained Mutagenesis Note=No effect on DNA-binding. M->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20010842;Dbxref=PMID:20010842 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1581_1581 1444 3973 retained Mutagenesis Note=Decreases affinity for histone H3K4me3. Y->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20541251;Dbxref=PMID:20541251 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1587_1587 1444 3973 retained Mutagenesis Note=Decreases affinity for histone H3K4me3. Q->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20541251;Dbxref=PMID:20541251 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1594_1594 1444 3973 retained Mutagenesis Note=Decreases affinity for histone H3K4me3. W->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20541251;Dbxref=PMID:20541251 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1594_1594 1444 3973 retained Mutagenesis Note=Decreases affinity for histone H3K4me3. W->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20541251;Dbxref=PMID:20541251 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1617_1617 1444 3973 retained Mutagenesis Note=Decreases binding affinity for PPIE. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20677832;Dbxref=PMID:20677832 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1619_1619 1444 3973 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 2666_2667 1444 3973 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 2718_2720 1444 3973 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 3858_3858 1444 3973 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 3858_3858 1444 3973 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 3861_3861 1444 3973 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 3861_3861 1444 3973 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 3864_3864 1444 3973 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 3867_3867 1444 3973 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 3867_3867 1444 3973 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 3867_3867 1444 3973 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 3869_3869 1444 3973 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 3871_3871 1444 3973 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 3872_3872 1444 3973 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 3874_3874 1444 3973 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 3878_3878 1444 3973 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 3906_3906 1444 3973 retained Mutagenesis Note=Loss of the histone H3 methyltransferase activity. N->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19556245;Dbxref=PMID:19556245 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 3942_3942 1444 3973 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 3942_3942 1444 3973 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 144_144 1444 3973 not_retained Sequence conflict Note=E->ELTTQIPCSWRTKGHIHDKKTEPFRLLAWSWCLN;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 556_556 1444 3973 not_retained Sequence conflict Note=Q->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 556_556 1444 3973 not_retained Sequence conflict Note=Q->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1347_1347 1444 3973 not_retained Sequence conflict Note=V->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1487_1487 1444 3973 retained Sequence conflict Note=R->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1490_1490 1444 3973 retained Sequence conflict Note=Q->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1507_1507 1444 3973 retained Sequence conflict Note=P->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1513_1513 1444 3973 retained Sequence conflict Note=N->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1600_1600 1444 3973 retained Sequence conflict Note=E->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1616_1616 1444 3973 retained Sequence conflict Note=S->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1937_1937 1444 3973 retained Sequence conflict Note=Q->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 2181_2181 1444 3973 retained Sequence conflict Note=P->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 3556_3556 1444 3973 retained Sequence conflict Note=K->N;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 3718_3718 1444 3973 retained Sequence conflict Note=R->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 3759_3759 1444 3973 retained Sequence conflict Note=N->D;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 3813_3813 1444 3973 retained Sequence conflict Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 3901_3901 1444 3973 retained Sequence conflict Note=A->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 114_133 1444 3973 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3U88 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 135_138 1444 3973 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MTN Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 150_152 1444 3973 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MSR Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1151_1154 1444 3973 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2J2S Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1156_1158 1444 3973 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NW3 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1159_1162 1444 3973 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NW3 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1168_1170 1444 3973 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NW3 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1171_1175 1444 3973 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NW3 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1177_1179 1444 3973 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NW3 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1183_1185 1444 3973 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2J2S Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1190_1192 1444 3973 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NW3 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1197_1200 1444 3973 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2J2S Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1204_1206 1444 3973 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2J2S Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1566_1568 1444 3973 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQI Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1570_1572 1444 3973 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1575_1577 1444 3973 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQI Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1578_1582 1444 3973 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2KYU Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1585_1587 1444 3973 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1589_1591 1444 3973 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1594_1596 1444 3973 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1597_1599 1444 3973 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1604_1612 1444 3973 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1614_1617 1444 3973 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1622_1624 1444 3973 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1627_1629 1444 3973 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1631_1652 1444 3973 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1655_1661 1444 3973 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1708_1716 1444 3973 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1723_1740 1444 3973 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1745_1765 1444 3973 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 1771_1773 1444 3973 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 2847_2855 1444 3973 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5SVH Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 3764_3766 1444 3973 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4ESG Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 3796_3799 1444 3973 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2W5Y Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 3809_3811 1444 3973 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2W5Y Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 3816_3820 1444 3973 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 3823_3830 1444 3973 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 3831_3835 1444 3973 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 3837_3847 1444 3973 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 3854_3857 1444 3973 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 3860_3864 1444 3973 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 3865_3867 1444 3973 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 3868_3877 1444 3973 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 3884_3886 1444 3973 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 3888_3894 1444 3973 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 3896_3898 1444 3973 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 3901_3904 1444 3973 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 3912_3920 1444 3973 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 3923_3932 1444 3973 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000534358 Q03164 + 9 36 3939_3942 1444 3973 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1_3969 1444 3970 not_retained Chain ID=PRO_0000124876;Note=Histone-lysine N-methyltransferase 2A Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1_2718 1444 3970 not_retained Chain ID=PRO_0000390949;Note=MLL cleavage product N320 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 2719_3969 1444 3970 retained Chain ID=PRO_0000390950;Note=MLL cleavage product C180 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1703_1748 1444 3970 retained Domain Note=Bromo%3B divergent;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00035 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 2018_2074 1444 3970 retained Domain Note=FYR N-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00875 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 3666_3747 1444 3970 retained Domain Note=FYR C-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00876 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 3829_3945 1444 3970 retained Domain Note=SET;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00190 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 3953_3969 1444 3970 retained Domain Note=Post-SET;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00155 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 169_180 1444 3970 not_retained DNA binding Note=A.T hook 1 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 217_227 1444 3970 not_retained DNA binding Note=A.T hook 2 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 301_309 1444 3970 not_retained DNA binding Note=A.T hook 3 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1147_1195 1444 3970 not_retained Zinc finger Note=CXXC-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00509 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1431_1482 1444 3970 not_retained Zinc finger Note=PHD-type 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00146 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1479_1533 1444 3970 retained Zinc finger Note=PHD-type 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00146 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1566_1627 1444 3970 retained Zinc finger Note=PHD-type 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00146 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1870_1910 1444 3970 retained Zinc finger Note=C2HC pre-PHD-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01146 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1931_1978 1444 3970 retained Zinc finger Note=PHD-type 4;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01146 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1584_1600 1444 3970 retained Region Note=Interaction with histone H3K4me3;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20677832;Dbxref=PMID:20677832 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 3764_3771 1444 3970 retained Region Note=Interaction with WDR5;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18829459;Dbxref=PMID:18829459 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 3906_3907 1444 3970 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 2847_2855 1444 3970 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5SVH Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 17_102 1444 3970 not_retained Compositional bias Note=Ala/Gly/Ser-rich Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 137_143 1444 3970 not_retained Compositional bias Note=Poly-Gly Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 561_564 1444 3970 not_retained Compositional bias Note=Poly-Pro Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 568_571 1444 3970 not_retained Compositional bias Note=Poly-Pro Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 3909_3909 1444 3970 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 3957_3957 1444 3970 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 3959_3959 1444 3970 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 3964_3964 1444 3970 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 3839_3839 1444 3970 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 3841_3841 1444 3970 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 3883_3883 1444 3970 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 3958_3958 1444 3970 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1334_1335 1444 3970 not_retained Site Note=Breakpoint for translocation to form KMT2A-ZFYVE19 oncogene Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1362_1363 1444 3970 not_retained Site Note=Breakpoint for translocation to form KMT2A-CENPK oncogene Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1362_1363 1444 3970 not_retained Site Note=Breakpoint for translocation to form KMT2A-CENPK oncogene Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1362_1362 1444 3970 not_retained Site Note=Breakpoint for translocation to form KMT2A-FRYL fusion protein Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1406_1407 1444 3970 not_retained Site Note=Breakpoint for translocation to form KMT2A-AFF4 fusion protein Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1444_1445 1444 3970 retained Site Note=Breakpoint for translocation to form KMT2A-LPP Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1444_1445 1444 3970 retained Site Note=Breakpoint for translocation to form KMT2A-LPP Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 2666_2667 1444 3970 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 2718_2719 1444 3970 retained Site Note=Cleavage%3B by TASP1%2C site 2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14636557;Dbxref=PMID:14636557 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 3765_3765 1444 3970 retained Site Note=Important for WDR5-recognition and binding;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19556245;Dbxref=PMID:19556245 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 153_153 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:20068231;Dbxref=PMID:18669648,PMID:19690332,PMID:20068231 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 197_197 1444 3970 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 239_239 1444 3970 not_retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P55200 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 373_373 1444 3970 not_retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P55200 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 518_518 1444 3970 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 636_636 1444 3970 not_retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 680_680 1444 3970 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 840_840 1444 3970 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 926_926 1444 3970 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:20068231;Dbxref=PMID:20068231 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1056_1056 1444 3970 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1130_1130 1444 3970 not_retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1235_1235 1444 3970 not_retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1837_1837 1444 3970 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1845_1845 1444 3970 retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1858_1858 1444 3970 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 2098_2098 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:23186163;Dbxref=PMID:18669648,PMID:19690332,PMID:23186163 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 2147_2147 1444 3970 retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 2151_2151 1444 3970 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 2201_2201 1444 3970 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:21406692;Dbxref=PMID:21406692 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 2525_2525 1444 3970 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 2611_2611 1444 3970 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 2796_2796 1444 3970 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 2955_2955 1444 3970 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 2958_2958 1444 3970 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P55200 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 3036_3036 1444 3970 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 3372_3372 1444 3970 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 3462_3462 1444 3970 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P55200 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 3511_3511 1444 3970 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 3515_3515 1444 3970 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19690332;Dbxref=PMID:19690332 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 3527_3527 1444 3970 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 2528_2528 1444 3970 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1407_1444 1444 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1603_1603 1444 3970 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 30_30 1444 3970 not_retained Natural variant ID=VAR_021317;Note=A->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8703835;Dbxref=dbSNP:rs9332745,PMID:8703835 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 53_53 1444 3970 not_retained Natural variant ID=VAR_021318;Note=A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332747 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 502_502 1444 3970 not_retained Natural variant ID=VAR_021319;Note=E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332772 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1975_1975 1444 3970 retained Natural variant ID=VAR_052652;Note=Q->P;Dbxref=dbSNP:rs693598 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 2319_2319 1444 3970 retained Natural variant ID=VAR_021320;Note=S->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332837 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 2354_2354 1444 3970 retained Natural variant ID=VAR_021321;Note=P->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332838 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 2387_2387 1444 3970 retained Natural variant ID=VAR_021322;Note=Q->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332839 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 3714_3714 1444 3970 retained Natural variant ID=VAR_021323;Note=V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332859 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 3773_3773 1444 3970 retained Natural variant ID=VAR_021324;Note=S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332861 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1150_1150 1444 3970 not_retained Mutagenesis Note=Impairs DNA-binding. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20010842;Dbxref=PMID:20010842 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1151_1151 1444 3970 not_retained Mutagenesis Note=Impairs DNA-binding. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1153_1153 1444 3970 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1154_1154 1444 3970 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1155_1155 1444 3970 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1158_1158 1444 3970 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1161_1161 1444 3970 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1162_1162 1444 3970 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1166_1166 1444 3970 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1167_1167 1444 3970 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1170_1170 1444 3970 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1172_1172 1444 3970 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1173_1173 1444 3970 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1175_1175 1444 3970 not_retained Mutagenesis Note=Impairs DNA-binding. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1176_1176 1444 3970 not_retained Mutagenesis Note=Impairs DNA-binding. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1178_1181 1444 3970 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1178_1178 1444 3970 not_retained Mutagenesis Note=Impairs DNA-binding. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1179_1179 1444 3970 not_retained Mutagenesis Note=Impairs DNA-binding. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1183_1183 1444 3970 not_retained Mutagenesis Note=Impairs DNA-binding. N->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1185_1185 1444 3970 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1186_1186 1444 3970 not_retained Mutagenesis Note=Impairs DNA-binding. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1187_1187 1444 3970 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1188_1188 1444 3970 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1188_1188 1444 3970 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1189_1189 1444 3970 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1192_1192 1444 3970 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1193_1193 1444 3970 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1194_1194 1444 3970 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1195_1195 1444 3970 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1196_1196 1444 3970 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1197_1197 1444 3970 not_retained Mutagenesis Note=Mildly decreases DNA-binding. L->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20010842;Dbxref=PMID:20010842 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1200_1200 1444 3970 not_retained Mutagenesis Note=No effect on DNA-binding. M->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20010842;Dbxref=PMID:20010842 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1581_1581 1444 3970 retained Mutagenesis Note=Decreases affinity for histone H3K4me3. Y->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20541251;Dbxref=PMID:20541251 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1587_1587 1444 3970 retained Mutagenesis Note=Decreases affinity for histone H3K4me3. Q->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20541251;Dbxref=PMID:20541251 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1594_1594 1444 3970 retained Mutagenesis Note=Decreases affinity for histone H3K4me3. W->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20541251;Dbxref=PMID:20541251 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1594_1594 1444 3970 retained Mutagenesis Note=Decreases affinity for histone H3K4me3. W->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20541251;Dbxref=PMID:20541251 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1617_1617 1444 3970 retained Mutagenesis Note=Decreases binding affinity for PPIE. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20677832;Dbxref=PMID:20677832 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1619_1619 1444 3970 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 2666_2667 1444 3970 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 2718_2720 1444 3970 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 3858_3858 1444 3970 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 3858_3858 1444 3970 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 3861_3861 1444 3970 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 3861_3861 1444 3970 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 3864_3864 1444 3970 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 3867_3867 1444 3970 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 3867_3867 1444 3970 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 3867_3867 1444 3970 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 3869_3869 1444 3970 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 3871_3871 1444 3970 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 3872_3872 1444 3970 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 3874_3874 1444 3970 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 3878_3878 1444 3970 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 3906_3906 1444 3970 retained Mutagenesis Note=Loss of the histone H3 methyltransferase activity. N->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19556245;Dbxref=PMID:19556245 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 3942_3942 1444 3970 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 3942_3942 1444 3970 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 144_144 1444 3970 not_retained Sequence conflict Note=E->ELTTQIPCSWRTKGHIHDKKTEPFRLLAWSWCLN;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 556_556 1444 3970 not_retained Sequence conflict Note=Q->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 556_556 1444 3970 not_retained Sequence conflict Note=Q->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1347_1347 1444 3970 not_retained Sequence conflict Note=V->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1487_1487 1444 3970 retained Sequence conflict Note=R->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1490_1490 1444 3970 retained Sequence conflict Note=Q->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1507_1507 1444 3970 retained Sequence conflict Note=P->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1513_1513 1444 3970 retained Sequence conflict Note=N->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1600_1600 1444 3970 retained Sequence conflict Note=E->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1616_1616 1444 3970 retained Sequence conflict Note=S->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1937_1937 1444 3970 retained Sequence conflict Note=Q->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 2181_2181 1444 3970 retained Sequence conflict Note=P->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 3556_3556 1444 3970 retained Sequence conflict Note=K->N;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 3718_3718 1444 3970 retained Sequence conflict Note=R->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 3759_3759 1444 3970 retained Sequence conflict Note=N->D;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 3813_3813 1444 3970 retained Sequence conflict Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 3901_3901 1444 3970 retained Sequence conflict Note=A->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 114_133 1444 3970 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3U88 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 135_138 1444 3970 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MTN Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 150_152 1444 3970 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MSR Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1151_1154 1444 3970 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2J2S Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1156_1158 1444 3970 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NW3 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1159_1162 1444 3970 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NW3 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1168_1170 1444 3970 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NW3 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1171_1175 1444 3970 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NW3 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1177_1179 1444 3970 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NW3 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1183_1185 1444 3970 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2J2S Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1190_1192 1444 3970 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NW3 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1197_1200 1444 3970 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2J2S Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1204_1206 1444 3970 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2J2S Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1566_1568 1444 3970 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQI Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1570_1572 1444 3970 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1575_1577 1444 3970 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQI Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1578_1582 1444 3970 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2KYU Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1585_1587 1444 3970 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1589_1591 1444 3970 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1594_1596 1444 3970 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1597_1599 1444 3970 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1604_1612 1444 3970 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1614_1617 1444 3970 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1622_1624 1444 3970 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1627_1629 1444 3970 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1631_1652 1444 3970 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1655_1661 1444 3970 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1708_1716 1444 3970 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1723_1740 1444 3970 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1745_1765 1444 3970 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 1771_1773 1444 3970 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 2847_2855 1444 3970 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5SVH Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 3764_3766 1444 3970 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4ESG Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 3796_3799 1444 3970 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2W5Y Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 3809_3811 1444 3970 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2W5Y Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 3816_3820 1444 3970 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 3823_3830 1444 3970 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 3831_3835 1444 3970 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 3837_3847 1444 3970 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 3854_3857 1444 3970 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 3860_3864 1444 3970 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 3865_3867 1444 3970 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 3868_3877 1444 3970 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 3884_3886 1444 3970 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 3888_3894 1444 3970 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 3896_3898 1444 3970 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 3901_3904 1444 3970 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 3912_3920 1444 3970 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 3923_3932 1444 3970 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000389506 Q03164 + 9 36 3939_3942 1444 3970 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1_3969 1406 3932 not_retained Chain ID=PRO_0000124876;Note=Histone-lysine N-methyltransferase 2A Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1_2718 1406 3932 not_retained Chain ID=PRO_0000390949;Note=MLL cleavage product N320 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 2719_3969 1406 3932 retained Chain ID=PRO_0000390950;Note=MLL cleavage product C180 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1703_1748 1406 3932 retained Domain Note=Bromo%3B divergent;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00035 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 2018_2074 1406 3932 retained Domain Note=FYR N-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00875 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 3666_3747 1406 3932 retained Domain Note=FYR C-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00876 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 3829_3945 1406 3932 retained Domain Note=SET;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00190 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 3953_3969 1406 3932 retained Domain Note=Post-SET;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00155 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 169_180 1406 3932 not_retained DNA binding Note=A.T hook 1 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 217_227 1406 3932 not_retained DNA binding Note=A.T hook 2 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 301_309 1406 3932 not_retained DNA binding Note=A.T hook 3 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1147_1195 1406 3932 not_retained Zinc finger Note=CXXC-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00509 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1431_1482 1406 3932 retained Zinc finger Note=PHD-type 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00146 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1479_1533 1406 3932 retained Zinc finger Note=PHD-type 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00146 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1566_1627 1406 3932 retained Zinc finger Note=PHD-type 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00146 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1870_1910 1406 3932 retained Zinc finger Note=C2HC pre-PHD-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01146 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1931_1978 1406 3932 retained Zinc finger Note=PHD-type 4;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01146 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1584_1600 1406 3932 retained Region Note=Interaction with histone H3K4me3;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20677832;Dbxref=PMID:20677832 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 3764_3771 1406 3932 retained Region Note=Interaction with WDR5;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18829459;Dbxref=PMID:18829459 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 3906_3907 1406 3932 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 2847_2855 1406 3932 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5SVH Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 17_102 1406 3932 not_retained Compositional bias Note=Ala/Gly/Ser-rich Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 137_143 1406 3932 not_retained Compositional bias Note=Poly-Gly Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 561_564 1406 3932 not_retained Compositional bias Note=Poly-Pro Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 568_571 1406 3932 not_retained Compositional bias Note=Poly-Pro Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 3909_3909 1406 3932 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 3957_3957 1406 3932 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 3959_3959 1406 3932 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 3964_3964 1406 3932 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 3839_3839 1406 3932 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 3841_3841 1406 3932 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 3883_3883 1406 3932 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 3958_3958 1406 3932 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1334_1335 1406 3932 not_retained Site Note=Breakpoint for translocation to form KMT2A-ZFYVE19 oncogene Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1362_1363 1406 3932 not_retained Site Note=Breakpoint for translocation to form KMT2A-CENPK oncogene Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1362_1363 1406 3932 not_retained Site Note=Breakpoint for translocation to form KMT2A-CENPK oncogene Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1362_1362 1406 3932 not_retained Site Note=Breakpoint for translocation to form KMT2A-FRYL fusion protein Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1406_1407 1406 3932 retained Site Note=Breakpoint for translocation to form KMT2A-AFF4 fusion protein Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1444_1445 1406 3932 retained Site Note=Breakpoint for translocation to form KMT2A-LPP Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1444_1445 1406 3932 retained Site Note=Breakpoint for translocation to form KMT2A-LPP Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 2666_2667 1406 3932 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 2718_2719 1406 3932 retained Site Note=Cleavage%3B by TASP1%2C site 2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14636557;Dbxref=PMID:14636557 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 3765_3765 1406 3932 retained Site Note=Important for WDR5-recognition and binding;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19556245;Dbxref=PMID:19556245 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 153_153 1406 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 197_197 1406 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 239_239 1406 3932 not_retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P55200 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 373_373 1406 3932 not_retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P55200 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 518_518 1406 3932 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 636_636 1406 3932 not_retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 680_680 1406 3932 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 840_840 1406 3932 not_retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 926_926 1406 3932 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:20068231;Dbxref=PMID:20068231 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1056_1056 1406 3932 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1130_1130 1406 3932 not_retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1235_1235 1406 3932 not_retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1837_1837 1406 3932 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1845_1845 1406 3932 retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1858_1858 1406 3932 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 2098_2098 1406 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:23186163;Dbxref=PMID:18669648,PMID:19690332,PMID:23186163 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 2147_2147 1406 3932 retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 2151_2151 1406 3932 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 2201_2201 1406 3932 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:21406692;Dbxref=PMID:21406692 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 2525_2525 1406 3932 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 2611_2611 1406 3932 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 2796_2796 1406 3932 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 2955_2955 1406 3932 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 2958_2958 1406 3932 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P55200 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 3036_3036 1406 3932 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 3372_3372 1406 3932 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 3462_3462 1406 3932 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P55200 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 3511_3511 1406 3932 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 3515_3515 1406 3932 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19690332;Dbxref=PMID:19690332 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 3527_3527 1406 3932 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 2528_2528 1406 3932 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1407_1444 1406 3932 retained Alternative sequence ID=VSP_006666;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:7598802;Dbxref=PMID:7598802 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1603_1603 1406 3932 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 30_30 1406 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 53_53 1406 3932 not_retained Natural variant ID=VAR_021318;Note=A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332747 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 502_502 1406 3932 not_retained Natural variant ID=VAR_021319;Note=E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332772 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1975_1975 1406 3932 retained Natural variant ID=VAR_052652;Note=Q->P;Dbxref=dbSNP:rs693598 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 2319_2319 1406 3932 retained Natural variant ID=VAR_021320;Note=S->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332837 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 2354_2354 1406 3932 retained Natural variant ID=VAR_021321;Note=P->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332838 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 2387_2387 1406 3932 retained Natural variant ID=VAR_021322;Note=Q->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332839 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 3714_3714 1406 3932 retained Natural variant ID=VAR_021323;Note=V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332859 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 3773_3773 1406 3932 retained Natural variant ID=VAR_021324;Note=S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332861 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1150_1150 1406 3932 not_retained Mutagenesis Note=Impairs DNA-binding. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20010842;Dbxref=PMID:20010842 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1151_1151 1406 3932 not_retained Mutagenesis Note=Impairs DNA-binding. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1153_1153 1406 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1154_1154 1406 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1155_1155 1406 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1158_1158 1406 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1161_1161 1406 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1162_1162 1406 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1166_1166 1406 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1167_1167 1406 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1170_1170 1406 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1172_1172 1406 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1173_1173 1406 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1175_1175 1406 3932 not_retained Mutagenesis Note=Impairs DNA-binding. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1176_1176 1406 3932 not_retained Mutagenesis Note=Impairs DNA-binding. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1178_1181 1406 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1178_1178 1406 3932 not_retained Mutagenesis Note=Impairs DNA-binding. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1179_1179 1406 3932 not_retained Mutagenesis Note=Impairs DNA-binding. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1183_1183 1406 3932 not_retained Mutagenesis Note=Impairs DNA-binding. N->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1185_1185 1406 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1186_1186 1406 3932 not_retained Mutagenesis Note=Impairs DNA-binding. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1187_1187 1406 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1188_1188 1406 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1188_1188 1406 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1189_1189 1406 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1192_1192 1406 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1193_1193 1406 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1194_1194 1406 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1195_1195 1406 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1196_1196 1406 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1197_1197 1406 3932 not_retained Mutagenesis Note=Mildly decreases DNA-binding. L->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20010842;Dbxref=PMID:20010842 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1200_1200 1406 3932 not_retained Mutagenesis Note=No effect on DNA-binding. M->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20010842;Dbxref=PMID:20010842 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1581_1581 1406 3932 retained Mutagenesis Note=Decreases affinity for histone H3K4me3. Y->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20541251;Dbxref=PMID:20541251 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1587_1587 1406 3932 retained Mutagenesis Note=Decreases affinity for histone H3K4me3. Q->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20541251;Dbxref=PMID:20541251 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1594_1594 1406 3932 retained Mutagenesis Note=Decreases affinity for histone H3K4me3. W->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20541251;Dbxref=PMID:20541251 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1594_1594 1406 3932 retained Mutagenesis Note=Decreases affinity for histone H3K4me3. W->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20541251;Dbxref=PMID:20541251 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1617_1617 1406 3932 retained Mutagenesis Note=Decreases binding affinity for PPIE. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20677832;Dbxref=PMID:20677832 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1619_1619 1406 3932 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 2666_2667 1406 3932 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 2718_2720 1406 3932 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 3858_3858 1406 3932 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 3858_3858 1406 3932 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 3861_3861 1406 3932 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 3861_3861 1406 3932 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 3864_3864 1406 3932 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 3867_3867 1406 3932 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 3867_3867 1406 3932 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 3867_3867 1406 3932 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 3869_3869 1406 3932 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 3871_3871 1406 3932 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 3872_3872 1406 3932 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 3874_3874 1406 3932 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 3878_3878 1406 3932 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 3906_3906 1406 3932 retained Mutagenesis Note=Loss of the histone H3 methyltransferase activity. N->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19556245;Dbxref=PMID:19556245 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 3942_3942 1406 3932 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 3942_3942 1406 3932 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 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 144_144 1406 3932 not_retained Sequence conflict Note=E->ELTTQIPCSWRTKGHIHDKKTEPFRLLAWSWCLN;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 556_556 1406 3932 not_retained Sequence conflict Note=Q->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 556_556 1406 3932 not_retained Sequence conflict Note=Q->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1347_1347 1406 3932 not_retained Sequence conflict Note=V->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1487_1487 1406 3932 retained Sequence conflict Note=R->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1490_1490 1406 3932 retained Sequence conflict Note=Q->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1507_1507 1406 3932 retained Sequence conflict Note=P->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1513_1513 1406 3932 retained Sequence conflict Note=N->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1600_1600 1406 3932 retained Sequence conflict Note=E->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1616_1616 1406 3932 retained Sequence conflict Note=S->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1937_1937 1406 3932 retained Sequence conflict Note=Q->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 2181_2181 1406 3932 retained Sequence conflict Note=P->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 3556_3556 1406 3932 retained Sequence conflict Note=K->N;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 3718_3718 1406 3932 retained Sequence conflict Note=R->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 3759_3759 1406 3932 retained Sequence conflict Note=N->D;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 3813_3813 1406 3932 retained Sequence conflict Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 3901_3901 1406 3932 retained Sequence conflict Note=A->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 114_133 1406 3932 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3U88 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 135_138 1406 3932 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MTN Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 150_152 1406 3932 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MSR Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1151_1154 1406 3932 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2J2S Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1156_1158 1406 3932 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NW3 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1159_1162 1406 3932 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NW3 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1168_1170 1406 3932 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NW3 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1171_1175 1406 3932 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NW3 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1177_1179 1406 3932 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NW3 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1183_1185 1406 3932 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2J2S Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1190_1192 1406 3932 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NW3 Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1197_1200 1406 3932 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2J2S Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1204_1206 1406 3932 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2J2S Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1566_1568 1406 3932 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQI Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1570_1572 1406 3932 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1575_1577 1406 3932 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQI Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1578_1582 1406 3932 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2KYU Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1585_1587 1406 3932 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1589_1591 1406 3932 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1594_1596 1406 3932 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1597_1599 1406 3932 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1604_1612 1406 3932 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1614_1617 1406 3932 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1622_1624 1406 3932 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1627_1629 1406 3932 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1631_1652 1406 3932 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1655_1661 1406 3932 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1708_1716 1406 3932 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1723_1740 1406 3932 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1745_1765 1406 3932 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 1771_1773 1406 3932 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 2847_2855 1406 3932 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5SVH Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 3764_3766 1406 3932 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4ESG Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 3796_3799 1406 3932 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2W5Y Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 3809_3811 1406 3932 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2W5Y Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 3816_3820 1406 3932 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 3823_3830 1406 3932 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 3831_3835 1406 3932 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 3837_3847 1406 3932 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 3854_3857 1406 3932 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 3860_3864 1406 3932 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 3865_3867 1406 3932 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 3868_3877 1406 3932 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 3884_3886 1406 3932 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 3888_3894 1406 3932 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 3896_3898 1406 3932 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 3901_3904 1406 3932 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 3912_3920 1406 3932 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 3923_3932 1406 3932 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AF487906 ChiTaRS AFF1 chr4:87968752 KMT2A chr11:118359327 ENST00000354520 Q03164 + 8 35 3939_3942 1406 3932 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame DA403287 ChiTaRS ARL16 chr17:79650564 LPIN1 chr2:11905658 ENST00000425416 Q14693 + 1 21 1_890 3 897 retained Chain ID=PRO_0000209879;Note=Phosphatidate phosphatase LPIN1 Tgene In-frame DA403287 ChiTaRS ARL16 chr17:79650564 LPIN1 chr2:11905658 ENST00000425416 Q14693 + 1 21 1_108 3 897 retained Region Note=N-LIP Tgene In-frame DA403287 ChiTaRS ARL16 chr17:79650564 LPIN1 chr2:11905658 ENST00000425416 Q14693 + 1 21 624_830 3 897 retained Region Note=C-LIP Tgene In-frame DA403287 ChiTaRS ARL16 chr17:79650564 LPIN1 chr2:11905658 ENST00000425416 Q14693 + 1 21 153_158 3 897 retained Motif Note=Nuclear localization signal;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene In-frame DA403287 ChiTaRS ARL16 chr17:79650564 LPIN1 chr2:11905658 ENST00000425416 Q14693 + 1 21 678_682 3 897 retained Motif Note=DXDXT motif Tgene In-frame DA403287 ChiTaRS ARL16 chr17:79650564 LPIN1 chr2:11905658 ENST00000425416 Q14693 + 1 21 689_693 3 897 retained Motif Note=LXXIL motif Tgene In-frame DA403287 ChiTaRS ARL16 chr17:79650564 LPIN1 chr2:11905658 ENST00000425416 Q14693 + 1 21 147_150 3 897 retained Compositional bias Note=Poly-Ser Tgene In-frame DA403287 ChiTaRS ARL16 chr17:79650564 LPIN1 chr2:11905658 ENST00000425416 Q14693 + 1 21 598_601 3 897 retained Compositional bias Note=Poly-Ser Tgene In-frame DA403287 ChiTaRS ARL16 chr17:79650564 LPIN1 chr2:11905658 ENST00000425416 Q14693 + 1 21 106_106 3 897 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q91ZP3 Tgene In-frame DA403287 ChiTaRS ARL16 chr17:79650564 LPIN1 chr2:11905658 ENST00000425416 Q14693 + 1 21 150_150 3 897 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q91ZP3 Tgene In-frame DA403287 ChiTaRS ARL16 chr17:79650564 LPIN1 chr2:11905658 ENST00000425416 Q14693 + 1 21 252_252 3 897 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q91ZP3 Tgene In-frame DA403287 ChiTaRS ARL16 chr17:79650564 LPIN1 chr2:11905658 ENST00000425416 Q14693 + 1 21 254_254 3 897 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q91ZP3 Tgene In-frame DA403287 ChiTaRS ARL16 chr17:79650564 LPIN1 chr2:11905658 ENST00000425416 Q14693 + 1 21 260_260 3 897 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q91ZP3 Tgene In-frame DA403287 ChiTaRS ARL16 chr17:79650564 LPIN1 chr2:11905658 ENST00000425416 Q14693 + 1 21 264_264 3 897 retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q91ZP3 Tgene In-frame DA403287 ChiTaRS ARL16 chr17:79650564 LPIN1 chr2:11905658 ENST00000425416 Q14693 + 1 21 294_294 3 897 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q91ZP3 Tgene In-frame DA403287 ChiTaRS ARL16 chr17:79650564 LPIN1 chr2:11905658 ENST00000425416 Q14693 + 1 21 434_434 3 897 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q91ZP3 Tgene In-frame DA403287 ChiTaRS ARL16 chr17:79650564 LPIN1 chr2:11905658 ENST00000425416 Q14693 + 1 21 438_438 3 897 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q91ZP3 Tgene In-frame DA403287 ChiTaRS ARL16 chr17:79650564 LPIN1 chr2:11905658 ENST00000425416 Q14693 + 1 21 449_449 3 897 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q91ZP3 Tgene In-frame DA403287 ChiTaRS ARL16 chr17:79650564 LPIN1 chr2:11905658 ENST00000425416 Q14693 + 1 21 600_600 3 897 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q91ZP3 Tgene In-frame DA403287 ChiTaRS ARL16 chr17:79650564 LPIN1 chr2:11905658 ENST00000425416 Q14693 + 1 21 601_601 3 897 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q91ZP3 Tgene In-frame DA403287 ChiTaRS ARL16 chr17:79650564 LPIN1 chr2:11905658 ENST00000425416 Q14693 + 1 21 887_887 3 897 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q91ZP3 Tgene In-frame DA403287 ChiTaRS ARL16 chr17:79650564 LPIN1 chr2:11905658 ENST00000425416 Q14693 + 1 21 889_889 3 897 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q91ZP3 Tgene In-frame DA403287 ChiTaRS ARL16 chr17:79650564 LPIN1 chr2:11905658 ENST00000425416 Q14693 + 1 21 565_565 3 897 retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO);Ontology_term=ECO:0000250;evidence=ECO:0000250 Tgene In-frame DA403287 ChiTaRS ARL16 chr17:79650564 LPIN1 chr2:11905658 ENST00000425416 Q14693 + 1 21 595_595 3 897 retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO);Ontology_term=ECO:0000250;evidence=ECO:0000250 Tgene In-frame DA403287 ChiTaRS ARL16 chr17:79650564 LPIN1 chr2:11905658 ENST00000425416 Q14693 + 1 21 1_1 3 897 retained Alternative sequence ID=VSP_055384;Note=In isoform 7. M->MGEQDGIRSSSWETSQGKSSPDSAWSWIPIMRDPGWIRNVWSSNINVQTM;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame DA403287 ChiTaRS ARL16 chr17:79650564 LPIN1 chr2:11905658 ENST00000425416 Q14693 + 1 21 1_1 3 897 retained Alternative sequence ID=VSP_055384;Note=In isoform 7. M->MGEQDGIRSSSWETSQGKSSPDSAWSWIPIMRDPGWIRNVWSSNINVQTM;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame DA403287 ChiTaRS ARL16 chr17:79650564 LPIN1 chr2:11905658 ENST00000425416 Q14693 + 1 21 241_241 3 897 retained Alternative sequence ID=VSP_053970;Note=In isoform 3%2C isoform 5%2C isoform 6 and isoform 7. S->SSLVDCKRTAPHLAVAAEGGLSSSCPPQSSLFHPSES;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 Tgene In-frame DA403287 ChiTaRS ARL16 chr17:79650564 LPIN1 chr2:11905658 ENST00000425416 Q14693 + 1 21 417_417 3 897 retained Alternative sequence ID=VSP_055361;Note=In isoform 6. N->K;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene In-frame DA403287 ChiTaRS ARL16 chr17:79650564 LPIN1 chr2:11905658 ENST00000425416 Q14693 + 1 21 418_890 3 897 retained Alternative sequence ID=VSP_055362;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene In-frame DA403287 ChiTaRS ARL16 chr17:79650564 LPIN1 chr2:11905658 ENST00000425416 Q14693 + 1 21 535_535 3 897 retained Sequence conflict Note=K->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame DA403287 ChiTaRS ARL16 chr17:79650564 LPIN1 chr2:11905658 ENST00000425416 Q14693 + 1 21 56_56 3 897 retained Natural variant ID=VAR_035874;Note=In a colorectal cancer sample%3B somatic mutation. G->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16959974;Dbxref=PMID:16959974 Tgene In-frame DA403287 ChiTaRS ARL16 chr17:79650564 LPIN1 chr2:11905658 ENST00000425416 Q14693 + 1 21 610_610 3 897 retained Natural variant ID=VAR_013885;Note=P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12111372;Dbxref=dbSNP:rs4669781,PMID:12111372 Tgene In-frame DA403287 ChiTaRS ARL16 chr17:79650564 LPIN1 chr2:11905658 ENST00000425416 Q14693 + 1 21 637_637 3 897 retained Natural variant ID=VAR_054878;Note=S->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs17852755,PMID:15489334 Tgene In-frame DA403287 ChiTaRS ARL16 chr17:79650564 LPIN1 chr2:11905658 ENST00000425416 Q14693 + 1 21 171_171 3 897 retained Sequence conflict Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame DA403287 ChiTaRS ARL16 chr17:79650564 LPIN1 chr2:11905658 ENST00000425416 Q14693 + 1 21 210_210 3 897 retained Sequence conflict Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame DA403287 ChiTaRS ARL16 chr17:79650564 LPIN1 chr2:11905658 ENST00000425416 Q14693 + 1 21 316_316 3 897 retained Sequence conflict Note=D->Y;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame DA403287 ChiTaRS ARL16 chr17:79650564 LPIN1 chr2:11905658 ENST00000425416 Q14693 + 1 21 535_535 3 897 retained Sequence conflict Note=K->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame DA403287 ChiTaRS ARL16 chr17:79650564 LPIN1 chr2:11905658 ENST00000425416 Q14693 + 1 21 592_592 3 897 retained Sequence conflict Note=T->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame DA403287 ChiTaRS ARL16 chr17:79650564 LPIN1 chr2:11905658 ENST00000256720 Q14693 + 0 20 1_890 -3 891 retained Chain ID=PRO_0000209879;Note=Phosphatidate phosphatase LPIN1 Tgene In-frame DA403287 ChiTaRS ARL16 chr17:79650564 LPIN1 chr2:11905658 ENST00000256720 Q14693 + 0 20 1_108 -3 891 retained Region Note=N-LIP Tgene In-frame DA403287 ChiTaRS ARL16 chr17:79650564 LPIN1 chr2:11905658 ENST00000256720 Q14693 + 0 20 624_830 -3 891 retained Region Note=C-LIP Tgene In-frame DA403287 ChiTaRS ARL16 chr17:79650564 LPIN1 chr2:11905658 ENST00000256720 Q14693 + 0 20 153_158 -3 891 retained Motif Note=Nuclear localization signal;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene In-frame DA403287 ChiTaRS ARL16 chr17:79650564 LPIN1 chr2:11905658 ENST00000256720 Q14693 + 0 20 678_682 -3 891 retained Motif Note=DXDXT motif Tgene In-frame DA403287 ChiTaRS ARL16 chr17:79650564 LPIN1 chr2:11905658 ENST00000256720 Q14693 + 0 20 689_693 -3 891 retained Motif Note=LXXIL motif Tgene In-frame DA403287 ChiTaRS ARL16 chr17:79650564 LPIN1 chr2:11905658 ENST00000256720 Q14693 + 0 20 147_150 -3 891 retained Compositional bias Note=Poly-Ser Tgene In-frame DA403287 ChiTaRS ARL16 chr17:79650564 LPIN1 chr2:11905658 ENST00000256720 Q14693 + 0 20 598_601 -3 891 retained Compositional bias Note=Poly-Ser Tgene In-frame DA403287 ChiTaRS ARL16 chr17:79650564 LPIN1 chr2:11905658 ENST00000256720 Q14693 + 0 20 106_106 -3 891 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q91ZP3 Tgene In-frame DA403287 ChiTaRS ARL16 chr17:79650564 LPIN1 chr2:11905658 ENST00000256720 Q14693 + 0 20 150_150 -3 891 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q91ZP3 Tgene In-frame DA403287 ChiTaRS ARL16 chr17:79650564 LPIN1 chr2:11905658 ENST00000256720 Q14693 + 0 20 252_252 -3 891 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q91ZP3 Tgene In-frame DA403287 ChiTaRS ARL16 chr17:79650564 LPIN1 chr2:11905658 ENST00000256720 Q14693 + 0 20 254_254 -3 891 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q91ZP3 Tgene In-frame DA403287 ChiTaRS ARL16 chr17:79650564 LPIN1 chr2:11905658 ENST00000256720 Q14693 + 0 20 260_260 -3 891 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q91ZP3 Tgene In-frame DA403287 ChiTaRS ARL16 chr17:79650564 LPIN1 chr2:11905658 ENST00000256720 Q14693 + 0 20 264_264 -3 891 retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q91ZP3 Tgene In-frame DA403287 ChiTaRS ARL16 chr17:79650564 LPIN1 chr2:11905658 ENST00000256720 Q14693 + 0 20 294_294 -3 891 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q91ZP3 Tgene In-frame DA403287 ChiTaRS ARL16 chr17:79650564 LPIN1 chr2:11905658 ENST00000256720 Q14693 + 0 20 434_434 -3 891 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q91ZP3 Tgene In-frame DA403287 ChiTaRS ARL16 chr17:79650564 LPIN1 chr2:11905658 ENST00000256720 Q14693 + 0 20 438_438 -3 891 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q91ZP3 Tgene In-frame DA403287 ChiTaRS ARL16 chr17:79650564 LPIN1 chr2:11905658 ENST00000256720 Q14693 + 0 20 449_449 -3 891 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q91ZP3 Tgene In-frame DA403287 ChiTaRS ARL16 chr17:79650564 LPIN1 chr2:11905658 ENST00000256720 Q14693 + 0 20 600_600 -3 891 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q91ZP3 Tgene In-frame DA403287 ChiTaRS ARL16 chr17:79650564 LPIN1 chr2:11905658 ENST00000256720 Q14693 + 0 20 601_601 -3 891 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q91ZP3 Tgene In-frame DA403287 ChiTaRS ARL16 chr17:79650564 LPIN1 chr2:11905658 ENST00000256720 Q14693 + 0 20 887_887 -3 891 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q91ZP3 Tgene In-frame DA403287 ChiTaRS ARL16 chr17:79650564 LPIN1 chr2:11905658 ENST00000256720 Q14693 + 0 20 889_889 -3 891 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q91ZP3 Tgene In-frame DA403287 ChiTaRS ARL16 chr17:79650564 LPIN1 chr2:11905658 ENST00000256720 Q14693 + 0 20 565_565 -3 891 retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO);Ontology_term=ECO:0000250;evidence=ECO:0000250 Tgene In-frame DA403287 ChiTaRS ARL16 chr17:79650564 LPIN1 chr2:11905658 ENST00000256720 Q14693 + 0 20 595_595 -3 891 retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO);Ontology_term=ECO:0000250;evidence=ECO:0000250 Tgene In-frame DA403287 ChiTaRS ARL16 chr17:79650564 LPIN1 chr2:11905658 ENST00000256720 Q14693 + 0 20 1_1 -3 891 retained Alternative sequence ID=VSP_055384;Note=In isoform 7. M->MGEQDGIRSSSWETSQGKSSPDSAWSWIPIMRDPGWIRNVWSSNINVQTM;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame DA403287 ChiTaRS ARL16 chr17:79650564 LPIN1 chr2:11905658 ENST00000256720 Q14693 + 0 20 1_1 -3 891 retained Alternative sequence ID=VSP_055384;Note=In isoform 7. M->MGEQDGIRSSSWETSQGKSSPDSAWSWIPIMRDPGWIRNVWSSNINVQTM;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame DA403287 ChiTaRS ARL16 chr17:79650564 LPIN1 chr2:11905658 ENST00000256720 Q14693 + 0 20 241_241 -3 891 retained Alternative sequence ID=VSP_053970;Note=In isoform 3%2C isoform 5%2C isoform 6 and isoform 7. S->SSLVDCKRTAPHLAVAAEGGLSSSCPPQSSLFHPSES;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 Tgene In-frame DA403287 ChiTaRS ARL16 chr17:79650564 LPIN1 chr2:11905658 ENST00000256720 Q14693 + 0 20 417_417 -3 891 retained Alternative sequence ID=VSP_055361;Note=In isoform 6. N->K;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene In-frame DA403287 ChiTaRS ARL16 chr17:79650564 LPIN1 chr2:11905658 ENST00000256720 Q14693 + 0 20 418_890 -3 891 retained Alternative sequence ID=VSP_055362;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene In-frame DA403287 ChiTaRS ARL16 chr17:79650564 LPIN1 chr2:11905658 ENST00000256720 Q14693 + 0 20 535_535 -3 891 retained Sequence conflict Note=K->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame DA403287 ChiTaRS ARL16 chr17:79650564 LPIN1 chr2:11905658 ENST00000256720 Q14693 + 0 20 56_56 -3 891 retained Natural variant ID=VAR_035874;Note=In a colorectal cancer sample%3B somatic mutation. G->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16959974;Dbxref=PMID:16959974 Tgene In-frame DA403287 ChiTaRS ARL16 chr17:79650564 LPIN1 chr2:11905658 ENST00000256720 Q14693 + 0 20 610_610 -3 891 retained Natural variant ID=VAR_013885;Note=P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12111372;Dbxref=dbSNP:rs4669781,PMID:12111372 Tgene In-frame DA403287 ChiTaRS ARL16 chr17:79650564 LPIN1 chr2:11905658 ENST00000256720 Q14693 + 0 20 637_637 -3 891 retained Natural variant ID=VAR_054878;Note=S->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs17852755,PMID:15489334 Tgene In-frame DA403287 ChiTaRS ARL16 chr17:79650564 LPIN1 chr2:11905658 ENST00000256720 Q14693 + 0 20 171_171 -3 891 retained Sequence conflict Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame DA403287 ChiTaRS ARL16 chr17:79650564 LPIN1 chr2:11905658 ENST00000256720 Q14693 + 0 20 210_210 -3 891 retained Sequence conflict Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame DA403287 ChiTaRS ARL16 chr17:79650564 LPIN1 chr2:11905658 ENST00000256720 Q14693 + 0 20 316_316 -3 891 retained Sequence conflict Note=D->Y;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame DA403287 ChiTaRS ARL16 chr17:79650564 LPIN1 chr2:11905658 ENST00000256720 Q14693 + 0 20 535_535 -3 891 retained Sequence conflict Note=K->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame DA403287 ChiTaRS ARL16 chr17:79650564 LPIN1 chr2:11905658 ENST00000256720 Q14693 + 0 20 592_592 -3 891 retained Sequence conflict Note=T->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000447866 P14324 + 2 10 1_419 94 354 not_retained Chain ID=PRO_0000123944;Note=Farnesyl pyrophosphate synthase Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000447866 P14324 + 2 10 169_169 94 354 retained Metal binding Note=Magnesium 2 Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000447866 P14324 + 2 10 169_169 94 354 retained Metal binding Note=Magnesium 2 Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000447866 P14324 + 2 10 173_173 94 354 retained Metal binding Note=Magnesium 2 Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000447866 P14324 + 2 10 173_173 94 354 retained Metal binding Note=Magnesium 2 Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000447866 P14324 + 2 10 309_309 94 354 retained Metal binding Note=Magnesium 3 Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000447866 P14324 + 2 10 123_123 94 354 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000447866 P14324 + 2 10 126_126 94 354 retained Binding site Note=Isopentenyl diphosphate Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000447866 P14324 + 2 10 162_162 94 354 retained Binding site Note=Isopentenyl diphosphate Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000447866 P14324 + 2 10 178_178 94 354 retained Binding site Note=Dimethylallyl diphosphate Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000447866 P14324 + 2 10 179_179 94 354 retained Natural variant ID=VAR_075062;Note=In POROK9. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26202976;Dbxref=dbSNP:rs863225241,PMID:26202976 Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000447866 P14324 + 2 10 266_266 94 354 retained Binding site Note=Dimethylallyl diphosphate Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000447866 P14324 + 2 10 267_267 94 354 retained Binding site Note=Dimethylallyl diphosphate Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000447866 P14324 + 2 10 306_306 94 354 retained Binding site Note=Dimethylallyl diphosphate Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000447866 P14324 + 2 10 323_323 94 354 retained Binding site Note=Dimethylallyl diphosphate Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000447866 P14324 + 2 10 332_332 94 354 retained Binding site Note=Dimethylallyl diphosphate;Ontology_term=ECO:0000250;evidence=ECO:0000250 Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000447866 P14324 + 2 10 164_164 94 354 retained Site Note=Important for determining product chain length;Ontology_term=ECO:0000250;evidence=ECO:0000250 Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000447866 P14324 + 2 10 165_165 94 354 retained Site Note=Important for determining product chain length;Ontology_term=ECO:0000250;evidence=ECO:0000250 Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000447866 P14324 + 2 10 123_123 94 354 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000447866 P14324 + 2 10 353_353 94 354 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000447866 P14324 + 2 10 1_66 94 354 not_retained Alternative sequence ID=VSP_046958;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:1968462,ECO:0000303|Ref.7;Dbxref=PMID:1968462 Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000447866 P14324 + 2 10 179_179 94 354 retained Natural variant ID=VAR_075062;Note=In POROK9. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26202976;Dbxref=dbSNP:rs863225241,PMID:26202976 Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000447866 P14324 + 2 10 364_364 94 354 retained Natural variant ID=VAR_061274;Note=V->A;Dbxref=dbSNP:rs41314549 Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000447866 P14324 + 2 10 391_391 94 354 retained Natural variant ID=VAR_049644;Note=I->V;Dbxref=dbSNP:rs17456 Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000447866 P14324 + 2 10 141_141 94 354 retained Sequence conflict Note=R->K;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000447866 P14324 + 2 10 182_182 94 354 retained Sequence conflict Note=I->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000447866 P14324 + 2 10 284_284 94 354 retained Sequence conflict Note=G->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000447866 P14324 + 2 10 76_85 94 354 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NUA Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000447866 P14324 + 2 10 87_94 94 354 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NUA Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000447866 P14324 + 2 10 97_100 94 354 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DEM Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000447866 P14324 + 2 10 102_104 94 354 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NUA Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000447866 P14324 + 2 10 105_118 94 354 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NUA Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000447866 P14324 + 2 10 119_122 94 354 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NUA Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000447866 P14324 + 2 10 125_137 94 354 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NUA Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000447866 P14324 + 2 10 140_142 94 354 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NUA Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000447866 P14324 + 2 10 145_172 94 354 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NUA Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000447866 P14324 + 2 10 176_178 94 354 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4QXS Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000447866 P14324 + 2 10 184_186 94 354 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NUA Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000447866 P14324 + 2 10 188_190 94 354 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NUA Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000447866 P14324 + 2 10 191_193 94 354 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NUA Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000447866 P14324 + 2 10 194_213 94 354 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NUA Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000447866 P14324 + 2 10 219_243 94 354 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NUA Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000447866 P14324 + 2 10 246_248 94 354 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4JVJ Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000447866 P14324 + 2 10 251_253 94 354 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NUA Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000447866 P14324 + 2 10 256_266 94 354 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NUA Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000447866 P14324 + 2 10 268_271 94 354 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NUA Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000447866 P14324 + 2 10 273_282 94 354 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NUA Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000447866 P14324 + 2 10 288_315 94 354 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NUA Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000447866 P14324 + 2 10 318_321 94 354 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NUA Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000447866 P14324 + 2 10 327_331 94 354 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NUA Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000447866 P14324 + 2 10 335_343 94 354 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NUA Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000447866 P14324 + 2 10 346_355 94 354 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NUA Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000447866 P14324 + 2 10 361_373 94 354 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NUA Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000447866 P14324 + 2 10 376_398 94 354 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NUA Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000447866 P14324 + 2 10 404_414 94 354 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NUA Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000368356 P14324 + 3 11 1_419 160 420 not_retained Chain ID=PRO_0000123944;Note=Farnesyl pyrophosphate synthase Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000368356 P14324 + 3 11 169_169 160 420 retained Metal binding Note=Magnesium 2 Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000368356 P14324 + 3 11 169_169 160 420 retained Metal binding Note=Magnesium 2 Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000368356 P14324 + 3 11 173_173 160 420 retained Metal binding Note=Magnesium 2 Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000368356 P14324 + 3 11 173_173 160 420 retained Metal binding Note=Magnesium 2 Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000368356 P14324 + 3 11 309_309 160 420 retained Metal binding Note=Magnesium 3 Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000368356 P14324 + 3 11 123_123 160 420 not_retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000368356 P14324 + 3 11 126_126 160 420 not_retained Binding site Note=Isopentenyl diphosphate Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000368356 P14324 + 3 11 162_162 160 420 retained Binding site Note=Isopentenyl diphosphate Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000368356 P14324 + 3 11 178_178 160 420 retained Binding site Note=Dimethylallyl diphosphate Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000368356 P14324 + 3 11 179_179 160 420 retained Natural variant ID=VAR_075062;Note=In POROK9. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26202976;Dbxref=dbSNP:rs863225241,PMID:26202976 Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000368356 P14324 + 3 11 266_266 160 420 retained Binding site Note=Dimethylallyl diphosphate Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000368356 P14324 + 3 11 267_267 160 420 retained Binding site Note=Dimethylallyl diphosphate Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000368356 P14324 + 3 11 306_306 160 420 retained Binding site Note=Dimethylallyl diphosphate Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000368356 P14324 + 3 11 323_323 160 420 retained Binding site Note=Dimethylallyl diphosphate Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000368356 P14324 + 3 11 332_332 160 420 retained Binding site Note=Dimethylallyl diphosphate;Ontology_term=ECO:0000250;evidence=ECO:0000250 Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000368356 P14324 + 3 11 164_164 160 420 retained Site Note=Important for determining product chain length;Ontology_term=ECO:0000250;evidence=ECO:0000250 Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000368356 P14324 + 3 11 165_165 160 420 retained Site Note=Important for determining product chain length;Ontology_term=ECO:0000250;evidence=ECO:0000250 Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000368356 P14324 + 3 11 123_123 160 420 not_retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000368356 P14324 + 3 11 353_353 160 420 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000368356 P14324 + 3 11 1_66 160 420 not_retained Alternative sequence ID=VSP_046958;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:1968462,ECO:0000303|Ref.7;Dbxref=PMID:1968462 Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000368356 P14324 + 3 11 179_179 160 420 retained Natural variant ID=VAR_075062;Note=In POROK9. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26202976;Dbxref=dbSNP:rs863225241,PMID:26202976 Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000368356 P14324 + 3 11 364_364 160 420 retained Natural variant ID=VAR_061274;Note=V->A;Dbxref=dbSNP:rs41314549 Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000368356 P14324 + 3 11 391_391 160 420 retained Natural variant ID=VAR_049644;Note=I->V;Dbxref=dbSNP:rs17456 Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000368356 P14324 + 3 11 141_141 160 420 not_retained Sequence conflict Note=R->K;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000368356 P14324 + 3 11 182_182 160 420 retained Sequence conflict Note=I->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000368356 P14324 + 3 11 284_284 160 420 retained Sequence conflict Note=G->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000368356 P14324 + 3 11 76_85 160 420 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NUA Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000368356 P14324 + 3 11 87_94 160 420 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NUA Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000368356 P14324 + 3 11 97_100 160 420 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DEM Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000368356 P14324 + 3 11 102_104 160 420 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NUA Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000368356 P14324 + 3 11 105_118 160 420 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NUA Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000368356 P14324 + 3 11 119_122 160 420 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NUA Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000368356 P14324 + 3 11 125_137 160 420 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NUA Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000368356 P14324 + 3 11 140_142 160 420 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NUA Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000368356 P14324 + 3 11 145_172 160 420 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NUA Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000368356 P14324 + 3 11 176_178 160 420 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4QXS Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000368356 P14324 + 3 11 184_186 160 420 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NUA Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000368356 P14324 + 3 11 188_190 160 420 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NUA Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000368356 P14324 + 3 11 191_193 160 420 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NUA Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000368356 P14324 + 3 11 194_213 160 420 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NUA Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000368356 P14324 + 3 11 219_243 160 420 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NUA Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000368356 P14324 + 3 11 246_248 160 420 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4JVJ Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000368356 P14324 + 3 11 251_253 160 420 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NUA Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000368356 P14324 + 3 11 256_266 160 420 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NUA Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000368356 P14324 + 3 11 268_271 160 420 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NUA Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000368356 P14324 + 3 11 273_282 160 420 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NUA Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000368356 P14324 + 3 11 288_315 160 420 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NUA Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000368356 P14324 + 3 11 318_321 160 420 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NUA Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000368356 P14324 + 3 11 327_331 160 420 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NUA Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000368356 P14324 + 3 11 335_343 160 420 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NUA Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000368356 P14324 + 3 11 346_355 160 420 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NUA Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000368356 P14324 + 3 11 361_373 160 420 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NUA Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000368356 P14324 + 3 11 376_398 160 420 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NUA Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000368356 P14324 + 3 11 404_414 160 420 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NUA Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000356657 P14324 + 3 11 1_419 160 420 not_retained Chain ID=PRO_0000123944;Note=Farnesyl pyrophosphate synthase Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000356657 P14324 + 3 11 169_169 160 420 retained Metal binding Note=Magnesium 2 Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000356657 P14324 + 3 11 169_169 160 420 retained Metal binding Note=Magnesium 2 Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000356657 P14324 + 3 11 173_173 160 420 retained Metal binding Note=Magnesium 2 Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000356657 P14324 + 3 11 173_173 160 420 retained Metal binding Note=Magnesium 2 Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000356657 P14324 + 3 11 309_309 160 420 retained Metal binding Note=Magnesium 3 Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000356657 P14324 + 3 11 123_123 160 420 not_retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000356657 P14324 + 3 11 126_126 160 420 not_retained Binding site Note=Isopentenyl diphosphate Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000356657 P14324 + 3 11 162_162 160 420 retained Binding site Note=Isopentenyl diphosphate Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000356657 P14324 + 3 11 178_178 160 420 retained Binding site Note=Dimethylallyl diphosphate Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000356657 P14324 + 3 11 179_179 160 420 retained Natural variant ID=VAR_075062;Note=In POROK9. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26202976;Dbxref=dbSNP:rs863225241,PMID:26202976 Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000356657 P14324 + 3 11 266_266 160 420 retained Binding site Note=Dimethylallyl diphosphate Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000356657 P14324 + 3 11 267_267 160 420 retained Binding site Note=Dimethylallyl diphosphate Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000356657 P14324 + 3 11 306_306 160 420 retained Binding site Note=Dimethylallyl diphosphate Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000356657 P14324 + 3 11 323_323 160 420 retained Binding site Note=Dimethylallyl diphosphate Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000356657 P14324 + 3 11 332_332 160 420 retained Binding site Note=Dimethylallyl diphosphate;Ontology_term=ECO:0000250;evidence=ECO:0000250 Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000356657 P14324 + 3 11 164_164 160 420 retained Site Note=Important for determining product chain length;Ontology_term=ECO:0000250;evidence=ECO:0000250 Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000356657 P14324 + 3 11 165_165 160 420 retained Site Note=Important for determining product chain length;Ontology_term=ECO:0000250;evidence=ECO:0000250 Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000356657 P14324 + 3 11 123_123 160 420 not_retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000356657 P14324 + 3 11 353_353 160 420 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000356657 P14324 + 3 11 1_66 160 420 not_retained Alternative sequence ID=VSP_046958;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:1968462,ECO:0000303|Ref.7;Dbxref=PMID:1968462 Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000356657 P14324 + 3 11 179_179 160 420 retained Natural variant ID=VAR_075062;Note=In POROK9. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26202976;Dbxref=dbSNP:rs863225241,PMID:26202976 Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000356657 P14324 + 3 11 364_364 160 420 retained Natural variant ID=VAR_061274;Note=V->A;Dbxref=dbSNP:rs41314549 Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000356657 P14324 + 3 11 391_391 160 420 retained Natural variant ID=VAR_049644;Note=I->V;Dbxref=dbSNP:rs17456 Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000356657 P14324 + 3 11 141_141 160 420 not_retained Sequence conflict Note=R->K;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000356657 P14324 + 3 11 182_182 160 420 retained Sequence conflict Note=I->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000356657 P14324 + 3 11 284_284 160 420 retained Sequence conflict Note=G->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000356657 P14324 + 3 11 76_85 160 420 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NUA Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000356657 P14324 + 3 11 87_94 160 420 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NUA Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000356657 P14324 + 3 11 97_100 160 420 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DEM Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000356657 P14324 + 3 11 102_104 160 420 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NUA Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000356657 P14324 + 3 11 105_118 160 420 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NUA Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000356657 P14324 + 3 11 119_122 160 420 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NUA Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000356657 P14324 + 3 11 125_137 160 420 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NUA Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000356657 P14324 + 3 11 140_142 160 420 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NUA Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000356657 P14324 + 3 11 145_172 160 420 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NUA Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000356657 P14324 + 3 11 176_178 160 420 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4QXS Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000356657 P14324 + 3 11 184_186 160 420 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NUA Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000356657 P14324 + 3 11 188_190 160 420 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NUA Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000356657 P14324 + 3 11 191_193 160 420 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NUA Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000356657 P14324 + 3 11 194_213 160 420 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NUA Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000356657 P14324 + 3 11 219_243 160 420 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NUA Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000356657 P14324 + 3 11 246_248 160 420 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4JVJ Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000356657 P14324 + 3 11 251_253 160 420 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NUA Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000356657 P14324 + 3 11 256_266 160 420 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NUA Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000356657 P14324 + 3 11 268_271 160 420 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NUA Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000356657 P14324 + 3 11 273_282 160 420 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NUA Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000356657 P14324 + 3 11 288_315 160 420 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NUA Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000356657 P14324 + 3 11 318_321 160 420 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NUA Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000356657 P14324 + 3 11 327_331 160 420 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NUA Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000356657 P14324 + 3 11 335_343 160 420 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NUA Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000356657 P14324 + 3 11 346_355 160 420 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NUA Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000356657 P14324 + 3 11 361_373 160 420 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NUA Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000356657 P14324 + 3 11 376_398 160 420 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NUA Tgene In-frame BG491331 ChiTaRS PMM2 chr16:8906963 FDPS chr1:155287732 ENST00000356657 P14324 + 3 11 404_414 160 420 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NUA Tgene In-frame BC016017 ChiTaRS ERICH1 chr8:618598 ERICH1 chr8:624048 ENST00000262109 Q86X53 - 2 6 1_443 101 444 not_retained Chain ID=PRO_0000087029;Note=Glutamate-rich protein 1 Tgene In-frame BC016017 ChiTaRS ERICH1 chr8:618598 ERICH1 chr8:624048 ENST00000262109 Q86X53 - 2 6 193_328 101 444 retained Compositional bias Note=Glu-rich Tgene In-frame BC016017 ChiTaRS ERICH1 chr8:618598 ERICH1 chr8:624048 ENST00000262109 Q86X53 - 2 6 12_12 101 444 not_retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Tgene In-frame BC016017 ChiTaRS ERICH1 chr8:618598 ERICH1 chr8:624048 ENST00000262109 Q86X53 - 2 6 238_238 101 444 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 Tgene In-frame BC016017 ChiTaRS ERICH1 chr8:618598 ERICH1 chr8:624048 ENST00000262109 Q86X53 - 2 6 254_254 101 444 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 Tgene In-frame BC016017 ChiTaRS ERICH1 chr8:618598 ERICH1 chr8:624048 ENST00000262109 Q86X53 - 2 6 277_277 101 444 retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19690332;Dbxref=PMID:19690332 Tgene In-frame BC016017 ChiTaRS ERICH1 chr8:618598 ERICH1 chr8:624048 ENST00000262109 Q86X53 - 2 6 365_365 101 444 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 Tgene In-frame BC016017 ChiTaRS ERICH1 chr8:618598 ERICH1 chr8:624048 ENST00000262109 Q86X53 - 2 6 403_403 101 444 retained Natural variant ID=VAR_050974;Note=R->S;Dbxref=dbSNP:rs1703879 Tgene In-frame BC016017 ChiTaRS ERICH1 chr8:618598 ERICH1 chr8:624048 ENST00000262109 Q86X53 - 2 6 3_3 101 444 not_retained Sequence conflict Note=A->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1_18 -303 1621 retained Signal peptide Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 19_1620 -303 1621 retained Chain ID=PRO_0000016740;Note=ALK tyrosine kinase receptor Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 19_1038 -303 1621 retained Topological domain Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1039_1059 -303 1621 retained Transmembrane Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1060_1620 -303 1621 retained Topological domain Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 264_427 -303 1621 retained Domain Note=MAM 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00128 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 437_473 -303 1621 retained Domain Note=LDL-receptor class A Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 478_636 -303 1621 retained Domain Note=MAM 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00128 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1116_1392 -303 1621 retained Domain Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1197_1199 -303 1621 retained Region Note=Inhibitor binding Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1197_1199 -303 1621 retained Region Note=Inhibitor binding Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 816_940 -303 1621 retained Compositional bias Note=Gly-rich Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1249_1249 -303 1621 retained Active site Note=Proton acceptor;Ontology_term=ECO:0000255,ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159,ECO:0000255|PROSITE-ProRule:PRU10028 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1124_1124 -303 1621 retained Binding site Note=ATP%3B via carbonyl oxygen Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1150_1150 -303 1621 retained Binding site Note=Inhibitor;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20695522,ECO:0000269|PubMed:21575866;Dbxref=PMID:20695522,PMID:21575866 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1150_1150 -303 1621 retained Binding site Note=Inhibitor;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20695522,ECO:0000269|PubMed:21575866;Dbxref=PMID:20695522,PMID:21575866 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1199_1199 -303 1621 retained Binding site Note=Inhibitor%3B via amide nitrogen;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20695522,ECO:0000269|PubMed:21575866;Dbxref=PMID:20695522,PMID:21575866 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1203_1203 -303 1621 retained Binding site Note=Inhibitor;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20695522,ECO:0000269|PubMed:21575866;Dbxref=PMID:20695522,PMID:21575866 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1210_1210 -303 1621 retained Binding site Note=Inhibitor;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20695522,ECO:0000269|PubMed:21575866;Dbxref=PMID:20695522,PMID:21575866 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1270_1270 -303 1621 retained Binding site Note=ATP Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1078_1078 -303 1621 retained Modified residue Note=Phosphotyrosine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:15592455;Dbxref=PMID:15592455 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1092_1092 -303 1621 retained Modified residue Note=Phosphotyrosine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P97793 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1096_1096 -303 1621 retained Modified residue Note=Phosphotyrosine;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:15592455,ECO:0000269|PubMed:16878150;Dbxref=PMID:15592455,PMID:16878150 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1131_1131 -303 1621 retained Modified residue Note=Phosphotyrosine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:15592455;Dbxref=PMID:15592455 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1278_1278 -303 1621 retained Natural variant ID=VAR_063866;Note=In NBLST3%3B somatic mutation. Y->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18923523;Dbxref=dbSNP:rs863225285,PMID:18923523 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1507_1507 -303 1621 retained Mutagenesis Note=Impairs interaction with SHC1. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17274988;Dbxref=PMID:17274988 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1604_1604 -303 1621 retained Modified residue Note=Phosphotyrosine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:15592455;Dbxref=PMID:15592455 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 169_169 -303 1621 retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 244_244 -303 1621 retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 285_285 -303 1621 retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 324_324 -303 1621 retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 411_411 -303 1621 retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 424_424 -303 1621 retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 445_445 -303 1621 retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 563_563 -303 1621 retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 571_571 -303 1621 retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 627_627 -303 1621 retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 709_709 -303 1621 retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 808_808 -303 1621 retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 863_863 -303 1621 retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 864_864 -303 1621 retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 886_886 -303 1621 retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 986_986 -303 1621 retained Glycosylation Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 90_90 -303 1621 retained Natural variant ID=VAR_041477;Note=S->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs34617074,PMID:17344846 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 163_163 -303 1621 retained Natural variant ID=VAR_041478;Note=V->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs55697431,PMID:17344846 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 296_296 -303 1621 retained Natural variant ID=VAR_041479;Note=E->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs56077855,PMID:17344846 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 476_476 -303 1621 retained Natural variant ID=VAR_041480;Note=V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs35093491,PMID:17344846 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 560_560 -303 1621 retained Natural variant ID=VAR_041481;Note=In a breast pleomorphic lobular carcinoma sample%3B somatic mutation. L->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=PMID:17344846 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 680_680 -303 1621 retained Natural variant ID=VAR_041482;Note=T->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs35228363,PMID:17344846 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 704_704 -303 1621 retained Natural variant ID=VAR_041483;Note=A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs34829159,PMID:17344846 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 868_868 -303 1621 retained Natural variant ID=VAR_061288;Note=L->Q;Dbxref=dbSNP:rs55941323 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 877_877 -303 1621 retained Natural variant ID=VAR_041484;Note=In an ovarian serous carcinoma sample%3B somatic mutation. A->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs746442213,PMID:17344846 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1012_1012 -303 1621 retained Natural variant ID=VAR_041485;Note=T->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs35073634,PMID:17344846 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1091_1091 -303 1621 retained Natural variant ID=VAR_063850;Note=In NBLST3%3B somatic mutation. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18724359;Dbxref=dbSNP:rs864309584,PMID:18724359 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1121_1121 -303 1621 retained Natural variant ID=VAR_041486;Note=G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs55760835,PMID:17344846 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1128_1128 -303 1621 retained Natural variant ID=VAR_063851;Note=In NBLST3. G->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18724359;Dbxref=dbSNP:rs113994088,PMID:18724359 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1151_1151 -303 1621 retained Natural variant ID=VAR_063852;Note=In NBLST3. T->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18923525;Dbxref=dbSNP:rs113994091,PMID:18923525 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1166_1166 -303 1621 retained Natural variant ID=VAR_063853;Note=In NBLST3%3B somatic mutation. M->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18724359;Dbxref=dbSNP:rs1057520019,PMID:18724359 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1171_1171 -303 1621 retained Natural variant ID=VAR_063854;Note=In NBLST3%3B somatic mutation. I->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18724359;Dbxref=dbSNP:rs1057519698,PMID:18724359 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1174_1174 -303 1621 retained Natural variant ID=VAR_063858;Note=In NBLST3%3B somatic mutation%3B constitutively activated%3B retained in the endoplasmic reticulum and Golgi compartments. F->V;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18923523,ECO:0000269|PubMed:21242967;Dbxref=dbSNP:rs281864719,PMID:18923523,PMID:21242967 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1174_1174 -303 1621 retained Natural variant ID=VAR_063858;Note=In NBLST3%3B somatic mutation%3B constitutively activated%3B retained in the endoplasmic reticulum and Golgi compartments. F->V;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18923523,ECO:0000269|PubMed:21242967;Dbxref=dbSNP:rs281864719,PMID:18923523,PMID:21242967 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1174_1174 -303 1621 retained Natural variant ID=VAR_063858;Note=In NBLST3%3B somatic mutation%3B constitutively activated%3B retained in the endoplasmic reticulum and Golgi compartments. F->V;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18923523,ECO:0000269|PubMed:21242967;Dbxref=dbSNP:rs281864719,PMID:18923523,PMID:21242967 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1174_1174 -303 1621 retained Natural variant ID=VAR_063858;Note=In NBLST3%3B somatic mutation%3B constitutively activated%3B retained in the endoplasmic reticulum and Golgi compartments. F->V;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18923523,ECO:0000269|PubMed:21242967;Dbxref=dbSNP:rs281864719,PMID:18923523,PMID:21242967 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1192_1192 -303 1621 retained Natural variant ID=VAR_063859;Note=In NBLST3. R->P;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18724359,ECO:0000269|PubMed:18923523;Dbxref=dbSNP:rs113994089,PMID:18724359,PMID:18923523 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1234_1234 -303 1621 retained Natural variant ID=VAR_063860;Note=In NBLST3%3B somatic mutation. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18923525;Dbxref=PMID:18923525 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1245_1245 -303 1621 retained Natural variant ID=VAR_063862;Note=In NBLST3%3B somatic mutation. F->V;Dbxref=dbSNP:rs281864720 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1245_1245 -303 1621 retained Natural variant ID=VAR_063862;Note=In NBLST3%3B somatic mutation. F->V;Dbxref=dbSNP:rs281864720 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1250_1250 -303 1621 retained Natural variant ID=VAR_063863;Note=In NBLST3%3B somatic mutation. I->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18724359;Dbxref=dbSNP:rs113994092,PMID:18724359 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1274_1274 -303 1621 retained Natural variant ID=VAR_041487;Note=A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs45502292,PMID:17344846 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1275_1275 -303 1621 retained Natural variant ID=VAR_063865;Note=In NBLST3%3B constitutively activated%3B retained in the endoplasmic reticulum and Golgi compartments. R->Q;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18724359,ECO:0000269|PubMed:18923523,ECO:0000269|PubMed:18923525,ECO:0000269|PubMed:21242967;Dbxref=dbSNP:rs113994087,PMID:18724359,PMID:18923523,PMID:18923525,PMID:21242967 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1275_1275 -303 1621 retained Natural variant ID=VAR_063865;Note=In NBLST3%3B constitutively activated%3B retained in the endoplasmic reticulum and Golgi compartments. R->Q;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18724359,ECO:0000269|PubMed:18923523,ECO:0000269|PubMed:18923525,ECO:0000269|PubMed:21242967;Dbxref=dbSNP:rs113994087,PMID:18724359,PMID:18923523,PMID:18923525,PMID:21242967 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1278_1278 -303 1621 retained Natural variant ID=VAR_063866;Note=In NBLST3%3B somatic mutation. Y->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18923523;Dbxref=dbSNP:rs863225285,PMID:18923523 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1328_1328 -303 1621 retained Natural variant ID=VAR_041488;Note=M->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs56160491,PMID:17344846 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1376_1376 -303 1621 retained Natural variant ID=VAR_055987;Note=F->S;Dbxref=dbSNP:rs17694720 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1416_1416 -303 1621 retained Natural variant ID=VAR_041489;Note=K->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs55782189,PMID:17344846 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1419_1419 -303 1621 retained Natural variant ID=VAR_041490;Note=E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs56181542,PMID:17344846 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1429_1429 -303 1621 retained Natural variant ID=VAR_041491;Note=Q->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs55906201,PMID:17344846 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1461_1461 -303 1621 retained Natural variant ID=VAR_031042;Note=I->V;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:8122112,ECO:0000269|PubMed:9053841,ECO:0000269|PubMed:9174053,ECO:0000269|Ref.4;Dbxref=dbSNP:rs1670283,PMID:8122112,PMID:9053841,PMID:9174053 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1491_1491 -303 1621 retained Natural variant ID=VAR_031043;Note=K->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17344846,ECO:0000269|PubMed:9053841,ECO:0000269|Ref.4;Dbxref=dbSNP:rs1881420,PMID:17344846,PMID:9053841 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1529_1529 -303 1621 retained Natural variant ID=VAR_031044;Note=D->E;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17344846,ECO:0000269|PubMed:9053841,ECO:0000269|Ref.4;Dbxref=dbSNP:rs1881421,PMID:17344846,PMID:9053841 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1599_1599 -303 1621 retained Natural variant ID=VAR_055988;Note=P->H;Dbxref=dbSNP:rs1881423 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1507_1507 -303 1621 retained Mutagenesis Note=Impairs interaction with SHC1. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17274988;Dbxref=PMID:17274988 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 36_36 -303 1621 retained Sequence conflict Note=P->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1087_1092 -303 1621 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3AOX Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1096_1098 -303 1621 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4Z55 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1101_1103 -303 1621 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4Z55 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1105_1107 -303 1621 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4Z55 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1113_1115 -303 1621 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4Z55 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1116_1124 -303 1621 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4Z55 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1126_1135 -303 1621 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4Z55 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1137_1140 -303 1621 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LCS Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1145_1152 -303 1621 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4Z55 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1154_1156 -303 1621 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IUI Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1158_1173 -303 1621 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4Z55 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1182_1186 -303 1621 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4Z55 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1188_1197 -303 1621 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4Z55 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1204_1211 -303 1621 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4Z55 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1215_1217 -303 1621 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5A9U Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1223_1242 -303 1621 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4Z55 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1252_1254 -303 1621 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4Z55 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1255_1258 -303 1621 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4Z55 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1260_1263 -303 1621 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4DCE Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1266_1268 -303 1621 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4Z55 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1272_1280 -303 1621 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4Z55 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1288_1290 -303 1621 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4Z55 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1293_1295 -303 1621 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4Z55 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1298_1303 -303 1621 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4Z55 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1308_1323 -303 1621 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4Z55 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1335_1343 -303 1621 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4Z55 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1356_1365 -303 1621 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4Z55 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1370_1372 -303 1621 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4Z55 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1376_1388 -303 1621 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4Z55 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1390_1393 -303 1621 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4Z55 Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1574_1576 -303 1621 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2KUP Tgene 5CDS-intron AF362886 ChiTaRS TPM3 chr1:154142876 ALK chr2:29446402 ENST00000389048 Q9UM73 - 0 29 1582_1584 -303 1621 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2YT2 Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000504592 Q8NDB2 + 10 21 1_785 387 994 not_retained Chain ID=PRO_0000251927;Note=B-cell scaffold protein with ankyrin repeats Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000504592 Q8NDB2 + 10 21 200_327 387 994 not_retained Domain Note=DBB;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00707 Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000504592 Q8NDB2 + 10 21 342_371 387 994 not_retained Repeat Note=ANK 1 Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000504592 Q8NDB2 + 10 21 378_408 387 994 not_retained Repeat Note=ANK 2 Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000504592 Q8NDB2 + 10 21 1_154 387 994 not_retained Region Note=Interaction with ITPR2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11782428;Dbxref=PMID:11782428 Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000504592 Q8NDB2 + 10 21 1_30 387 994 not_retained Alternative sequence ID=VSP_020803;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11782428,ECO:0000303|PubMed:14702039;Dbxref=PMID:11782428,PMID:14702039 Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000504592 Q8NDB2 + 10 21 1_14 387 994 not_retained Alternative sequence ID=VSP_020804;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000504592 Q8NDB2 + 10 21 15_23 387 994 not_retained Alternative sequence ID=VSP_020805;Note=In isoform 2. PAPCGPAPP->MVNCHLKI;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000504592 Q8NDB2 + 10 21 24_156 387 994 not_retained Alternative sequence ID=VSP_034214;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:18204447;Dbxref=PMID:18204447 Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000504592 Q8NDB2 + 10 21 61_61 387 994 not_retained Natural variant ID=VAR_027729;Note=Polymorphism%3B may influence susceptibility to SLE. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18204447;Dbxref=dbSNP:rs10516487,PMID:18204447 Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000504592 Q8NDB2 + 10 21 383_383 387 994 not_retained Natural variant ID=VAR_027730;Note=Polymorphism%3B may influence susceptibility to SLE. A->T;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14702039,ECO:0000269|PubMed:18204447;Dbxref=dbSNP:rs3733197,PMID:14702039,PMID:18204447 Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000504592 Q8NDB2 + 10 21 650_650 387 994 retained Natural variant ID=VAR_027731;Note=C->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11782428,ECO:0000269|PubMed:14702039,ECO:0000269|PubMed:15489334,ECO:0000269|PubMed:17974005,ECO:0000269|PubMed:18204447;Dbxref=dbSNP:rs3113676,PMID:11782428,PMID:14702039,PMID:15489334,PMID:17974005,PMID:18204447 Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000504592 Q8NDB2 + 10 21 143_143 387 994 not_retained Sequence conflict Note=P->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000504592 Q8NDB2 + 10 21 209_209 387 994 not_retained Sequence conflict Note=N->D;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000504592 Q8NDB2 + 10 21 303_303 387 994 not_retained Sequence conflict Note=S->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000504592 Q8NDB2 + 10 21 436_436 387 994 retained Sequence conflict Note=H->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000504592 Q8NDB2 + 10 21 557_557 387 994 retained Sequence conflict Note=E->D;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000322953 Q8NDB2 + 6 17 1_785 402 916 not_retained Chain ID=PRO_0000251927;Note=B-cell scaffold protein with ankyrin repeats Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000322953 Q8NDB2 + 6 17 200_327 402 916 not_retained Domain Note=DBB;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00707 Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000322953 Q8NDB2 + 6 17 342_371 402 916 not_retained Repeat Note=ANK 1 Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000322953 Q8NDB2 + 6 17 378_408 402 916 not_retained Repeat Note=ANK 2 Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000322953 Q8NDB2 + 6 17 1_154 402 916 not_retained Region Note=Interaction with ITPR2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11782428;Dbxref=PMID:11782428 Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000322953 Q8NDB2 + 6 17 1_30 402 916 not_retained Alternative sequence ID=VSP_020803;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11782428,ECO:0000303|PubMed:14702039;Dbxref=PMID:11782428,PMID:14702039 Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000322953 Q8NDB2 + 6 17 1_14 402 916 not_retained Alternative sequence ID=VSP_020804;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000322953 Q8NDB2 + 6 17 15_23 402 916 not_retained Alternative sequence ID=VSP_020805;Note=In isoform 2. PAPCGPAPP->MVNCHLKI;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000322953 Q8NDB2 + 6 17 24_156 402 916 not_retained Alternative sequence ID=VSP_034214;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:18204447;Dbxref=PMID:18204447 Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000322953 Q8NDB2 + 6 17 61_61 402 916 not_retained Natural variant ID=VAR_027729;Note=Polymorphism%3B may influence susceptibility to SLE. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18204447;Dbxref=dbSNP:rs10516487,PMID:18204447 Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000322953 Q8NDB2 + 6 17 383_383 402 916 not_retained Natural variant ID=VAR_027730;Note=Polymorphism%3B may influence susceptibility to SLE. A->T;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14702039,ECO:0000269|PubMed:18204447;Dbxref=dbSNP:rs3733197,PMID:14702039,PMID:18204447 Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000322953 Q8NDB2 + 6 17 650_650 402 916 retained Natural variant ID=VAR_027731;Note=C->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11782428,ECO:0000269|PubMed:14702039,ECO:0000269|PubMed:15489334,ECO:0000269|PubMed:17974005,ECO:0000269|PubMed:18204447;Dbxref=dbSNP:rs3113676,PMID:11782428,PMID:14702039,PMID:15489334,PMID:17974005,PMID:18204447 Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000322953 Q8NDB2 + 6 17 143_143 402 916 not_retained Sequence conflict Note=P->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000322953 Q8NDB2 + 6 17 209_209 402 916 not_retained Sequence conflict Note=N->D;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000322953 Q8NDB2 + 6 17 303_303 402 916 not_retained Sequence conflict Note=S->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000322953 Q8NDB2 + 6 17 436_436 402 916 retained Sequence conflict Note=H->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000322953 Q8NDB2 + 6 17 557_557 402 916 retained Sequence conflict Note=E->D;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000428908 Q8NDB2 + 5 16 1_785 269 807 not_retained Chain ID=PRO_0000251927;Note=B-cell scaffold protein with ankyrin repeats Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000428908 Q8NDB2 + 5 16 200_327 269 807 not_retained Domain Note=DBB;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00707 Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000428908 Q8NDB2 + 5 16 342_371 269 807 retained Repeat Note=ANK 1 Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000428908 Q8NDB2 + 5 16 378_408 269 807 retained Repeat Note=ANK 2 Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000428908 Q8NDB2 + 5 16 1_154 269 807 not_retained Region Note=Interaction with ITPR2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11782428;Dbxref=PMID:11782428 Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000428908 Q8NDB2 + 5 16 1_30 269 807 not_retained Alternative sequence ID=VSP_020803;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11782428,ECO:0000303|PubMed:14702039;Dbxref=PMID:11782428,PMID:14702039 Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000428908 Q8NDB2 + 5 16 1_14 269 807 not_retained Alternative sequence ID=VSP_020804;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000428908 Q8NDB2 + 5 16 15_23 269 807 not_retained Alternative sequence ID=VSP_020805;Note=In isoform 2. PAPCGPAPP->MVNCHLKI;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000428908 Q8NDB2 + 5 16 24_156 269 807 not_retained Alternative sequence ID=VSP_034214;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:18204447;Dbxref=PMID:18204447 Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000428908 Q8NDB2 + 5 16 61_61 269 807 not_retained Natural variant ID=VAR_027729;Note=Polymorphism%3B may influence susceptibility to SLE. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18204447;Dbxref=dbSNP:rs10516487,PMID:18204447 Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000428908 Q8NDB2 + 5 16 383_383 269 807 retained Natural variant ID=VAR_027730;Note=Polymorphism%3B may influence susceptibility to SLE. A->T;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14702039,ECO:0000269|PubMed:18204447;Dbxref=dbSNP:rs3733197,PMID:14702039,PMID:18204447 Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000428908 Q8NDB2 + 5 16 650_650 269 807 retained Natural variant ID=VAR_027731;Note=C->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11782428,ECO:0000269|PubMed:14702039,ECO:0000269|PubMed:15489334,ECO:0000269|PubMed:17974005,ECO:0000269|PubMed:18204447;Dbxref=dbSNP:rs3113676,PMID:11782428,PMID:14702039,PMID:15489334,PMID:17974005,PMID:18204447 Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000428908 Q8NDB2 + 5 16 143_143 269 807 not_retained Sequence conflict Note=P->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000428908 Q8NDB2 + 5 16 209_209 269 807 not_retained Sequence conflict Note=N->D;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000428908 Q8NDB2 + 5 16 303_303 269 807 retained Sequence conflict Note=S->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000428908 Q8NDB2 + 5 16 436_436 269 807 retained Sequence conflict Note=H->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000428908 Q8NDB2 + 5 16 557_557 269 807 retained Sequence conflict Note=E->D;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000508653 Q8NDB2 + 5 15 1_785 269 653 not_retained Chain ID=PRO_0000251927;Note=B-cell scaffold protein with ankyrin repeats Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000508653 Q8NDB2 + 5 15 200_327 269 653 not_retained Domain Note=DBB;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00707 Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000508653 Q8NDB2 + 5 15 342_371 269 653 retained Repeat Note=ANK 1 Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000508653 Q8NDB2 + 5 15 378_408 269 653 retained Repeat Note=ANK 2 Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000508653 Q8NDB2 + 5 15 1_154 269 653 not_retained Region Note=Interaction with ITPR2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11782428;Dbxref=PMID:11782428 Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000508653 Q8NDB2 + 5 15 1_30 269 653 not_retained Alternative sequence ID=VSP_020803;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11782428,ECO:0000303|PubMed:14702039;Dbxref=PMID:11782428,PMID:14702039 Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000508653 Q8NDB2 + 5 15 1_14 269 653 not_retained Alternative sequence ID=VSP_020804;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000508653 Q8NDB2 + 5 15 15_23 269 653 not_retained Alternative sequence ID=VSP_020805;Note=In isoform 2. PAPCGPAPP->MVNCHLKI;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000508653 Q8NDB2 + 5 15 24_156 269 653 not_retained Alternative sequence ID=VSP_034214;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:18204447;Dbxref=PMID:18204447 Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000508653 Q8NDB2 + 5 15 61_61 269 653 not_retained Natural variant ID=VAR_027729;Note=Polymorphism%3B may influence susceptibility to SLE. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18204447;Dbxref=dbSNP:rs10516487,PMID:18204447 Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000508653 Q8NDB2 + 5 15 383_383 269 653 retained Natural variant ID=VAR_027730;Note=Polymorphism%3B may influence susceptibility to SLE. A->T;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14702039,ECO:0000269|PubMed:18204447;Dbxref=dbSNP:rs3733197,PMID:14702039,PMID:18204447 Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000508653 Q8NDB2 + 5 15 650_650 269 653 retained Natural variant ID=VAR_027731;Note=C->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11782428,ECO:0000269|PubMed:14702039,ECO:0000269|PubMed:15489334,ECO:0000269|PubMed:17974005,ECO:0000269|PubMed:18204447;Dbxref=dbSNP:rs3113676,PMID:11782428,PMID:14702039,PMID:15489334,PMID:17974005,PMID:18204447 Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000508653 Q8NDB2 + 5 15 143_143 269 653 not_retained Sequence conflict Note=P->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000508653 Q8NDB2 + 5 15 209_209 269 653 not_retained Sequence conflict Note=N->D;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000508653 Q8NDB2 + 5 15 303_303 269 653 retained Sequence conflict Note=S->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000508653 Q8NDB2 + 5 15 436_436 269 653 retained Sequence conflict Note=H->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000508653 Q8NDB2 + 5 15 557_557 269 653 retained Sequence conflict Note=E->D;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000444316 Q8NDB2 + 6 17 1_785 372 963 not_retained Chain ID=PRO_0000251927;Note=B-cell scaffold protein with ankyrin repeats Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000444316 Q8NDB2 + 6 17 200_327 372 963 not_retained Domain Note=DBB;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00707 Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000444316 Q8NDB2 + 6 17 342_371 372 963 not_retained Repeat Note=ANK 1 Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000444316 Q8NDB2 + 6 17 378_408 372 963 retained Repeat Note=ANK 2 Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000444316 Q8NDB2 + 6 17 1_154 372 963 not_retained Region Note=Interaction with ITPR2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11782428;Dbxref=PMID:11782428 Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000444316 Q8NDB2 + 6 17 1_30 372 963 not_retained Alternative sequence ID=VSP_020803;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11782428,ECO:0000303|PubMed:14702039;Dbxref=PMID:11782428,PMID:14702039 Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000444316 Q8NDB2 + 6 17 1_14 372 963 not_retained Alternative sequence ID=VSP_020804;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000444316 Q8NDB2 + 6 17 15_23 372 963 not_retained Alternative sequence ID=VSP_020805;Note=In isoform 2. PAPCGPAPP->MVNCHLKI;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000444316 Q8NDB2 + 6 17 24_156 372 963 not_retained Alternative sequence ID=VSP_034214;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:18204447;Dbxref=PMID:18204447 Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000444316 Q8NDB2 + 6 17 61_61 372 963 not_retained Natural variant ID=VAR_027729;Note=Polymorphism%3B may influence susceptibility to SLE. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18204447;Dbxref=dbSNP:rs10516487,PMID:18204447 Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000444316 Q8NDB2 + 6 17 383_383 372 963 retained Natural variant ID=VAR_027730;Note=Polymorphism%3B may influence susceptibility to SLE. A->T;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14702039,ECO:0000269|PubMed:18204447;Dbxref=dbSNP:rs3733197,PMID:14702039,PMID:18204447 Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000444316 Q8NDB2 + 6 17 650_650 372 963 retained Natural variant ID=VAR_027731;Note=C->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11782428,ECO:0000269|PubMed:14702039,ECO:0000269|PubMed:15489334,ECO:0000269|PubMed:17974005,ECO:0000269|PubMed:18204447;Dbxref=dbSNP:rs3113676,PMID:11782428,PMID:14702039,PMID:15489334,PMID:17974005,PMID:18204447 Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000444316 Q8NDB2 + 6 17 143_143 372 963 not_retained Sequence conflict Note=P->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000444316 Q8NDB2 + 6 17 209_209 372 963 not_retained Sequence conflict Note=N->D;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000444316 Q8NDB2 + 6 17 303_303 372 963 not_retained Sequence conflict Note=S->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000444316 Q8NDB2 + 6 17 436_436 372 963 retained Sequence conflict Note=H->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame DA819158 ChiTaRS ARHGAP24 chr4:86491874 BANK1 chr4:102942670 ENST00000444316 Q8NDB2 + 6 17 557_557 372 963 retained Sequence conflict Note=E->D;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377072 P55197 + 8 24 1_1068 265 1476 not_retained Chain ID=PRO_0000215935;Note=Protein AF-10 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377072 P55197 + 8 24 22_74 265 1476 not_retained Zinc finger Note=PHD-type 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00146 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377072 P55197 + 8 24 79_112 265 1476 not_retained Zinc finger Note=C2HC pre-PHD-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01146 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377072 P55197 + 8 24 135_198 265 1476 not_retained Zinc finger Note=PHD-type 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01146 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377072 P55197 + 8 24 80_287 265 1476 not_retained Region Note=Self-association Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377072 P55197 + 8 24 106_190 265 1476 not_retained Region Note=Required for interaction with histone H3;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26439302;Dbxref=PMID:26439302 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377072 P55197 + 8 24 141_233 265 1476 not_retained Region Note=Interaction with FSTL3;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17868029;Dbxref=PMID:17868029 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377072 P55197 + 8 24 311_674 265 1476 retained Region Note=DNA-binding Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377072 P55197 + 8 24 703_784 265 1476 retained Region Note=Transactivation domain%3B required for DOT1L-binding Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377072 P55197 + 8 24 750_778 265 1476 retained Region Note=Leucine-zipper Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377072 P55197 + 8 24 229_240 265 1476 not_retained Compositional bias Note=Glu/Lys-rich Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377072 P55197 + 8 24 266_266 265 1476 retained Site Note=KMT2A/MLL1 fusion point (in acute myeloid leukemia patient B) Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377072 P55197 + 8 24 627_627 265 1476 retained Site Note=KMT2A/MLL1 fusion point (in acute myeloid leukemia patient C) Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377072 P55197 + 8 24 664_664 265 1476 retained Site Note=KMT2A/MLL1 fusion point (in acute myeloid leukemia patient A) Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377072 P55197 + 8 24 217_217 265 1476 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377072 P55197 + 8 24 252_252 265 1476 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377072 P55197 + 8 24 436_436 265 1476 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377072 P55197 + 8 24 532_532 265 1476 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O54826 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377072 P55197 + 8 24 684_684 265 1476 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377072 P55197 + 8 24 686_686 265 1476 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 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377072 P55197 + 8 24 689_689 265 1476 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377072 P55197 + 8 24 280_280 265 1476 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 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377072 P55197 + 8 24 81_179 265 1476 not_retained Alternative sequence ID=VSP_044552;Note=In isoform 3. RCELCPHKDGALKRTDNGGWAHVVCALYIPEVQFANVSTMEPIVLQSVPHDRYNKTCYICDEQGRESKAATGACMTCNKHGCRQAFHVTCAQFAGLLCE->MVCNSCWLASSENVTPGYIEHHCACASPHPRCLVSNVPPVSGALMHCFWACLTTAAFFGPQSFTTCHMSFLVSRDILFYIYGFMPFISVVIWRFKKERW;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377072 P55197 + 8 24 81_126 265 1476 not_retained Alternative sequence ID=VSP_043044;Note=In isoform 2. RCELCPHKDGALKRTDNGGWAHVVCALYIPEVQFANVSTMEPIVLQ->AESRSVAQAKVQWCDLSPLQPLLPGFKRFSCLSLPNGMQFLLVSLI;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377072 P55197 + 8 24 127_1068 265 1476 not_retained Alternative sequence ID=VSP_043045;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377072 P55197 + 8 24 180_1068 265 1476 not_retained Alternative sequence ID=VSP_044553;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377072 P55197 + 8 24 566_566 265 1476 retained Alternative sequence ID=VSP_047517;Note=In isoform 1. N->NDRGDSSTLTKQELKFI;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:7888665;Dbxref=PMID:7888665 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377072 P55197 + 8 24 986_1011 265 1476 retained Alternative sequence ID=VSP_047518;Note=In isoform 1. EQHQAFLYQLMQHHHQQHHQPELQQL->VHRHPHFTQLPPTHFSPSMEIMQVRK;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:7888665;Dbxref=PMID:7888665 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377072 P55197 + 8 24 1012_1068 265 1476 retained Alternative sequence ID=VSP_047519;Note=In isoform 1. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:7888665;Dbxref=PMID:7888665 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377072 P55197 + 8 24 22_22 265 1476 not_retained Mutagenesis Note=Does not affect interaction with histone H3. I->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26439302;Dbxref=PMID:26439302 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377072 P55197 + 8 24 80_80 265 1476 not_retained Mutagenesis Note=Does not affect interaction with histone H3. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26439302;Dbxref=PMID:26439302 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377072 P55197 + 8 24 106_106 265 1476 not_retained Mutagenesis Note=Impairs interaction with histone H3. A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26439302;Dbxref=PMID:26439302 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377072 P55197 + 8 24 107_107 265 1476 not_retained Mutagenesis Note=Impairs interaction with histone H3. Reduces association to chromatin. Does not rescued histone H3 'Lys-79' dimethylation (H3K79me2) levels in MLLT10-depleted cells. Does not rescued DOT1L-target genes in MLLT10-depleted cells. L->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26439302;Dbxref=PMID:26439302 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377072 P55197 + 8 24 109_109 265 1476 not_retained Mutagenesis Note=Impairs interaction with histone H3. I->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26439302;Dbxref=PMID:26439302 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377072 P55197 + 8 24 114_114 265 1476 not_retained Mutagenesis Note=Impairs interaction with histone H3. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26439302;Dbxref=PMID:26439302 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377072 P55197 + 8 24 120_120 265 1476 not_retained Mutagenesis Note=Impairs interaction with histone H3. M->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26439302;Dbxref=PMID:26439302 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377072 P55197 + 8 24 179_179 265 1476 not_retained Mutagenesis Note=Impairs interaction with histone H3. E->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26439302;Dbxref=PMID:26439302 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377072 P55197 + 8 24 190_190 265 1476 not_retained Mutagenesis Note=Impairs interaction with histone H3. Y->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26439302;Dbxref=PMID:26439302 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377072 P55197 + 8 24 26_29 265 1476 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAG Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377072 P55197 + 8 24 39_41 265 1476 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAG Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377072 P55197 + 8 24 50_52 265 1476 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAG Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377072 P55197 + 8 24 53_55 265 1476 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAG Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377072 P55197 + 8 24 69_72 265 1476 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAG Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377072 P55197 + 8 24 73_75 265 1476 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAH Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377072 P55197 + 8 24 77_79 265 1476 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAG Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377072 P55197 + 8 24 83_86 265 1476 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAG Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377072 P55197 + 8 24 89_95 265 1476 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAG Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377072 P55197 + 8 24 98_102 265 1476 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAG Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377072 P55197 + 8 24 103_108 265 1476 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAG Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377072 P55197 + 8 24 113_115 265 1476 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAG Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377072 P55197 + 8 24 117_120 265 1476 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAG Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377072 P55197 + 8 24 122_124 265 1476 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAG Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377072 P55197 + 8 24 130_132 265 1476 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAG Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377072 P55197 + 8 24 138_142 265 1476 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAG Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377072 P55197 + 8 24 146_148 265 1476 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAG Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377072 P55197 + 8 24 159_161 265 1476 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAH Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377072 P55197 + 8 24 168_174 265 1476 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAG Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377072 P55197 + 8 24 177_181 265 1476 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAH Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377072 P55197 + 8 24 183_186 265 1476 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAH Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377072 P55197 + 8 24 188_192 265 1476 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAH Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377072 P55197 + 8 24 195_199 265 1476 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAG Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377072 P55197 + 8 24 716_733 265 1476 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6CKO Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377072 P55197 + 8 24 738_778 265 1476 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6CKO Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000307729 P55197 + 8 23 1_1068 265 1069 not_retained Chain ID=PRO_0000215935;Note=Protein AF-10 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000307729 P55197 + 8 23 22_74 265 1069 not_retained Zinc finger Note=PHD-type 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00146 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000307729 P55197 + 8 23 79_112 265 1069 not_retained Zinc finger Note=C2HC pre-PHD-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01146 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000307729 P55197 + 8 23 135_198 265 1069 not_retained Zinc finger Note=PHD-type 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01146 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000307729 P55197 + 8 23 80_287 265 1069 not_retained Region Note=Self-association Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000307729 P55197 + 8 23 106_190 265 1069 not_retained Region Note=Required for interaction with histone H3;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26439302;Dbxref=PMID:26439302 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000307729 P55197 + 8 23 141_233 265 1069 not_retained Region Note=Interaction with FSTL3;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17868029;Dbxref=PMID:17868029 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000307729 P55197 + 8 23 311_674 265 1069 retained Region Note=DNA-binding Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000307729 P55197 + 8 23 703_784 265 1069 retained Region Note=Transactivation domain%3B required for DOT1L-binding Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000307729 P55197 + 8 23 750_778 265 1069 retained Region Note=Leucine-zipper Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000307729 P55197 + 8 23 229_240 265 1069 not_retained Compositional bias Note=Glu/Lys-rich Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000307729 P55197 + 8 23 266_266 265 1069 retained Site Note=KMT2A/MLL1 fusion point (in acute myeloid leukemia patient B) Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000307729 P55197 + 8 23 627_627 265 1069 retained Site Note=KMT2A/MLL1 fusion point (in acute myeloid leukemia patient C) Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000307729 P55197 + 8 23 664_664 265 1069 retained Site Note=KMT2A/MLL1 fusion point (in acute myeloid leukemia patient A) Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000307729 P55197 + 8 23 217_217 265 1069 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000307729 P55197 + 8 23 252_252 265 1069 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000307729 P55197 + 8 23 436_436 265 1069 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000307729 P55197 + 8 23 532_532 265 1069 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O54826 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000307729 P55197 + 8 23 684_684 265 1069 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000307729 P55197 + 8 23 686_686 265 1069 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 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000307729 P55197 + 8 23 689_689 265 1069 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000307729 P55197 + 8 23 280_280 265 1069 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 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000307729 P55197 + 8 23 81_179 265 1069 not_retained Alternative sequence ID=VSP_044552;Note=In isoform 3. RCELCPHKDGALKRTDNGGWAHVVCALYIPEVQFANVSTMEPIVLQSVPHDRYNKTCYICDEQGRESKAATGACMTCNKHGCRQAFHVTCAQFAGLLCE->MVCNSCWLASSENVTPGYIEHHCACASPHPRCLVSNVPPVSGALMHCFWACLTTAAFFGPQSFTTCHMSFLVSRDILFYIYGFMPFISVVIWRFKKERW;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000307729 P55197 + 8 23 81_126 265 1069 not_retained Alternative sequence ID=VSP_043044;Note=In isoform 2. RCELCPHKDGALKRTDNGGWAHVVCALYIPEVQFANVSTMEPIVLQ->AESRSVAQAKVQWCDLSPLQPLLPGFKRFSCLSLPNGMQFLLVSLI;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000307729 P55197 + 8 23 127_1068 265 1069 not_retained Alternative sequence ID=VSP_043045;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000307729 P55197 + 8 23 180_1068 265 1069 not_retained Alternative sequence ID=VSP_044553;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000307729 P55197 + 8 23 566_566 265 1069 retained Alternative sequence ID=VSP_047517;Note=In isoform 1. N->NDRGDSSTLTKQELKFI;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:7888665;Dbxref=PMID:7888665 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000307729 P55197 + 8 23 986_1011 265 1069 retained Alternative sequence ID=VSP_047518;Note=In isoform 1. EQHQAFLYQLMQHHHQQHHQPELQQL->VHRHPHFTQLPPTHFSPSMEIMQVRK;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:7888665;Dbxref=PMID:7888665 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000307729 P55197 + 8 23 1012_1068 265 1069 retained Alternative sequence ID=VSP_047519;Note=In isoform 1. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:7888665;Dbxref=PMID:7888665 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000307729 P55197 + 8 23 22_22 265 1069 not_retained Mutagenesis Note=Does not affect interaction with histone H3. I->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26439302;Dbxref=PMID:26439302 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000307729 P55197 + 8 23 80_80 265 1069 not_retained Mutagenesis Note=Does not affect interaction with histone H3. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26439302;Dbxref=PMID:26439302 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000307729 P55197 + 8 23 106_106 265 1069 not_retained Mutagenesis Note=Impairs interaction with histone H3. A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26439302;Dbxref=PMID:26439302 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000307729 P55197 + 8 23 107_107 265 1069 not_retained Mutagenesis Note=Impairs interaction with histone H3. Reduces association to chromatin. Does not rescued histone H3 'Lys-79' dimethylation (H3K79me2) levels in MLLT10-depleted cells. Does not rescued DOT1L-target genes in MLLT10-depleted cells. L->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26439302;Dbxref=PMID:26439302 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000307729 P55197 + 8 23 109_109 265 1069 not_retained Mutagenesis Note=Impairs interaction with histone H3. I->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26439302;Dbxref=PMID:26439302 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000307729 P55197 + 8 23 114_114 265 1069 not_retained Mutagenesis Note=Impairs interaction with histone H3. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26439302;Dbxref=PMID:26439302 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000307729 P55197 + 8 23 120_120 265 1069 not_retained Mutagenesis Note=Impairs interaction with histone H3. M->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26439302;Dbxref=PMID:26439302 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000307729 P55197 + 8 23 179_179 265 1069 not_retained Mutagenesis Note=Impairs interaction with histone H3. E->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26439302;Dbxref=PMID:26439302 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000307729 P55197 + 8 23 190_190 265 1069 not_retained Mutagenesis Note=Impairs interaction with histone H3. Y->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26439302;Dbxref=PMID:26439302 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000307729 P55197 + 8 23 26_29 265 1069 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAG Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000307729 P55197 + 8 23 39_41 265 1069 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAG Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000307729 P55197 + 8 23 50_52 265 1069 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAG Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000307729 P55197 + 8 23 53_55 265 1069 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAG Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000307729 P55197 + 8 23 69_72 265 1069 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAG Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000307729 P55197 + 8 23 73_75 265 1069 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAH Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000307729 P55197 + 8 23 77_79 265 1069 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAG Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000307729 P55197 + 8 23 83_86 265 1069 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAG Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000307729 P55197 + 8 23 89_95 265 1069 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAG Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000307729 P55197 + 8 23 98_102 265 1069 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAG Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000307729 P55197 + 8 23 103_108 265 1069 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAG Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000307729 P55197 + 8 23 113_115 265 1069 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAG Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000307729 P55197 + 8 23 117_120 265 1069 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAG Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000307729 P55197 + 8 23 122_124 265 1069 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAG Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000307729 P55197 + 8 23 130_132 265 1069 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAG Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000307729 P55197 + 8 23 138_142 265 1069 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAG Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000307729 P55197 + 8 23 146_148 265 1069 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAG Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000307729 P55197 + 8 23 159_161 265 1069 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAH Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000307729 P55197 + 8 23 168_174 265 1069 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAG Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000307729 P55197 + 8 23 177_181 265 1069 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAH Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000307729 P55197 + 8 23 183_186 265 1069 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAH Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000307729 P55197 + 8 23 188_192 265 1069 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAH Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000307729 P55197 + 8 23 195_199 265 1069 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAG Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000307729 P55197 + 8 23 716_733 265 1069 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6CKO Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000307729 P55197 + 8 23 738_778 265 1069 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6CKO Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377100 P55197 + 0 4 1_1068 -119 180 retained Chain ID=PRO_0000215935;Note=Protein AF-10 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377100 P55197 + 0 4 22_74 -119 180 retained Zinc finger Note=PHD-type 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00146 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377100 P55197 + 0 4 79_112 -119 180 retained Zinc finger Note=C2HC pre-PHD-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01146 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377100 P55197 + 0 4 135_198 -119 180 retained Zinc finger Note=PHD-type 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01146 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377100 P55197 + 0 4 80_287 -119 180 retained Region Note=Self-association Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377100 P55197 + 0 4 106_190 -119 180 retained Region Note=Required for interaction with histone H3;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26439302;Dbxref=PMID:26439302 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377100 P55197 + 0 4 141_233 -119 180 retained Region Note=Interaction with FSTL3;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17868029;Dbxref=PMID:17868029 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377100 P55197 + 0 4 311_674 -119 180 retained Region Note=DNA-binding Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377100 P55197 + 0 4 703_784 -119 180 retained Region Note=Transactivation domain%3B required for DOT1L-binding Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377100 P55197 + 0 4 750_778 -119 180 retained Region Note=Leucine-zipper Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377100 P55197 + 0 4 229_240 -119 180 retained Compositional bias Note=Glu/Lys-rich Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377100 P55197 + 0 4 266_266 -119 180 retained Site Note=KMT2A/MLL1 fusion point (in acute myeloid leukemia patient B) Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377100 P55197 + 0 4 627_627 -119 180 retained Site Note=KMT2A/MLL1 fusion point (in acute myeloid leukemia patient C) Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377100 P55197 + 0 4 664_664 -119 180 retained Site Note=KMT2A/MLL1 fusion point (in acute myeloid leukemia patient A) Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377100 P55197 + 0 4 217_217 -119 180 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377100 P55197 + 0 4 252_252 -119 180 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377100 P55197 + 0 4 436_436 -119 180 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377100 P55197 + 0 4 532_532 -119 180 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O54826 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377100 P55197 + 0 4 684_684 -119 180 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377100 P55197 + 0 4 686_686 -119 180 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 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377100 P55197 + 0 4 689_689 -119 180 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377100 P55197 + 0 4 280_280 -119 180 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 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377100 P55197 + 0 4 81_179 -119 180 retained Alternative sequence ID=VSP_044552;Note=In isoform 3. RCELCPHKDGALKRTDNGGWAHVVCALYIPEVQFANVSTMEPIVLQSVPHDRYNKTCYICDEQGRESKAATGACMTCNKHGCRQAFHVTCAQFAGLLCE->MVCNSCWLASSENVTPGYIEHHCACASPHPRCLVSNVPPVSGALMHCFWACLTTAAFFGPQSFTTCHMSFLVSRDILFYIYGFMPFISVVIWRFKKERW;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377100 P55197 + 0 4 81_126 -119 180 retained Alternative sequence ID=VSP_043044;Note=In isoform 2. RCELCPHKDGALKRTDNGGWAHVVCALYIPEVQFANVSTMEPIVLQ->AESRSVAQAKVQWCDLSPLQPLLPGFKRFSCLSLPNGMQFLLVSLI;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377100 P55197 + 0 4 127_1068 -119 180 retained Alternative sequence ID=VSP_043045;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377100 P55197 + 0 4 180_1068 -119 180 retained Alternative sequence ID=VSP_044553;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377100 P55197 + 0 4 566_566 -119 180 retained Alternative sequence ID=VSP_047517;Note=In isoform 1. N->NDRGDSSTLTKQELKFI;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:7888665;Dbxref=PMID:7888665 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377100 P55197 + 0 4 986_1011 -119 180 retained Alternative sequence ID=VSP_047518;Note=In isoform 1. EQHQAFLYQLMQHHHQQHHQPELQQL->VHRHPHFTQLPPTHFSPSMEIMQVRK;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:7888665;Dbxref=PMID:7888665 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377100 P55197 + 0 4 1012_1068 -119 180 retained Alternative sequence ID=VSP_047519;Note=In isoform 1. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:7888665;Dbxref=PMID:7888665 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377100 P55197 + 0 4 22_22 -119 180 retained Mutagenesis Note=Does not affect interaction with histone H3. I->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26439302;Dbxref=PMID:26439302 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377100 P55197 + 0 4 80_80 -119 180 retained Mutagenesis Note=Does not affect interaction with histone H3. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26439302;Dbxref=PMID:26439302 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377100 P55197 + 0 4 106_106 -119 180 retained Mutagenesis Note=Impairs interaction with histone H3. A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26439302;Dbxref=PMID:26439302 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377100 P55197 + 0 4 107_107 -119 180 retained Mutagenesis Note=Impairs interaction with histone H3. Reduces association to chromatin. Does not rescued histone H3 'Lys-79' dimethylation (H3K79me2) levels in MLLT10-depleted cells. Does not rescued DOT1L-target genes in MLLT10-depleted cells. L->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26439302;Dbxref=PMID:26439302 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377100 P55197 + 0 4 109_109 -119 180 retained Mutagenesis Note=Impairs interaction with histone H3. I->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26439302;Dbxref=PMID:26439302 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377100 P55197 + 0 4 114_114 -119 180 retained Mutagenesis Note=Impairs interaction with histone H3. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26439302;Dbxref=PMID:26439302 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377100 P55197 + 0 4 120_120 -119 180 retained Mutagenesis Note=Impairs interaction with histone H3. M->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26439302;Dbxref=PMID:26439302 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377100 P55197 + 0 4 179_179 -119 180 retained Mutagenesis Note=Impairs interaction with histone H3. E->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26439302;Dbxref=PMID:26439302 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377100 P55197 + 0 4 190_190 -119 180 retained Mutagenesis Note=Impairs interaction with histone H3. Y->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26439302;Dbxref=PMID:26439302 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377100 P55197 + 0 4 26_29 -119 180 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAG Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377100 P55197 + 0 4 39_41 -119 180 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAG Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377100 P55197 + 0 4 50_52 -119 180 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAG Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377100 P55197 + 0 4 53_55 -119 180 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAG Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377100 P55197 + 0 4 69_72 -119 180 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAG Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377100 P55197 + 0 4 73_75 -119 180 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAH Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377100 P55197 + 0 4 77_79 -119 180 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAG Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377100 P55197 + 0 4 83_86 -119 180 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAG Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377100 P55197 + 0 4 89_95 -119 180 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAG Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377100 P55197 + 0 4 98_102 -119 180 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAG Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377100 P55197 + 0 4 103_108 -119 180 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAG Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377100 P55197 + 0 4 113_115 -119 180 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAG Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377100 P55197 + 0 4 117_120 -119 180 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAG Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377100 P55197 + 0 4 122_124 -119 180 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAG Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377100 P55197 + 0 4 130_132 -119 180 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAG Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377100 P55197 + 0 4 138_142 -119 180 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAG Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377100 P55197 + 0 4 146_148 -119 180 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAG Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377100 P55197 + 0 4 159_161 -119 180 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAH Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377100 P55197 + 0 4 168_174 -119 180 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAG Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377100 P55197 + 0 4 177_181 -119 180 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAH Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377100 P55197 + 0 4 183_186 -119 180 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAH Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377100 P55197 + 0 4 188_192 -119 180 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAH Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377100 P55197 + 0 4 195_199 -119 180 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAG Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377100 P55197 + 0 4 716_733 -119 180 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6CKO Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377100 P55197 + 0 4 738_778 -119 180 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6CKO Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377091 P55197 + 0 5 1_1068 -59 127 retained Chain ID=PRO_0000215935;Note=Protein AF-10 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377091 P55197 + 0 5 22_74 -59 127 retained Zinc finger Note=PHD-type 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00146 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377091 P55197 + 0 5 79_112 -59 127 retained Zinc finger Note=C2HC pre-PHD-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01146 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377091 P55197 + 0 5 135_198 -59 127 retained Zinc finger Note=PHD-type 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01146 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377091 P55197 + 0 5 80_287 -59 127 retained Region Note=Self-association Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377091 P55197 + 0 5 106_190 -59 127 retained Region Note=Required for interaction with histone H3;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26439302;Dbxref=PMID:26439302 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377091 P55197 + 0 5 141_233 -59 127 retained Region Note=Interaction with FSTL3;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17868029;Dbxref=PMID:17868029 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377091 P55197 + 0 5 311_674 -59 127 retained Region Note=DNA-binding Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377091 P55197 + 0 5 703_784 -59 127 retained Region Note=Transactivation domain%3B required for DOT1L-binding Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377091 P55197 + 0 5 750_778 -59 127 retained Region Note=Leucine-zipper Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377091 P55197 + 0 5 229_240 -59 127 retained Compositional bias Note=Glu/Lys-rich Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377091 P55197 + 0 5 266_266 -59 127 retained Site Note=KMT2A/MLL1 fusion point (in acute myeloid leukemia patient B) Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377091 P55197 + 0 5 627_627 -59 127 retained Site Note=KMT2A/MLL1 fusion point (in acute myeloid leukemia patient C) Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377091 P55197 + 0 5 664_664 -59 127 retained Site Note=KMT2A/MLL1 fusion point (in acute myeloid leukemia patient A) Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377091 P55197 + 0 5 217_217 -59 127 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377091 P55197 + 0 5 252_252 -59 127 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377091 P55197 + 0 5 436_436 -59 127 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377091 P55197 + 0 5 532_532 -59 127 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O54826 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377091 P55197 + 0 5 684_684 -59 127 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377091 P55197 + 0 5 686_686 -59 127 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 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377091 P55197 + 0 5 689_689 -59 127 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377091 P55197 + 0 5 280_280 -59 127 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 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377091 P55197 + 0 5 81_179 -59 127 retained Alternative sequence ID=VSP_044552;Note=In isoform 3. RCELCPHKDGALKRTDNGGWAHVVCALYIPEVQFANVSTMEPIVLQSVPHDRYNKTCYICDEQGRESKAATGACMTCNKHGCRQAFHVTCAQFAGLLCE->MVCNSCWLASSENVTPGYIEHHCACASPHPRCLVSNVPPVSGALMHCFWACLTTAAFFGPQSFTTCHMSFLVSRDILFYIYGFMPFISVVIWRFKKERW;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377091 P55197 + 0 5 81_126 -59 127 retained Alternative sequence ID=VSP_043044;Note=In isoform 2. RCELCPHKDGALKRTDNGGWAHVVCALYIPEVQFANVSTMEPIVLQ->AESRSVAQAKVQWCDLSPLQPLLPGFKRFSCLSLPNGMQFLLVSLI;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377091 P55197 + 0 5 127_1068 -59 127 retained Alternative sequence ID=VSP_043045;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377091 P55197 + 0 5 180_1068 -59 127 retained Alternative sequence ID=VSP_044553;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377091 P55197 + 0 5 566_566 -59 127 retained Alternative sequence ID=VSP_047517;Note=In isoform 1. N->NDRGDSSTLTKQELKFI;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:7888665;Dbxref=PMID:7888665 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377091 P55197 + 0 5 986_1011 -59 127 retained Alternative sequence ID=VSP_047518;Note=In isoform 1. EQHQAFLYQLMQHHHQQHHQPELQQL->VHRHPHFTQLPPTHFSPSMEIMQVRK;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:7888665;Dbxref=PMID:7888665 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377091 P55197 + 0 5 1012_1068 -59 127 retained Alternative sequence ID=VSP_047519;Note=In isoform 1. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:7888665;Dbxref=PMID:7888665 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377091 P55197 + 0 5 22_22 -59 127 retained Mutagenesis Note=Does not affect interaction with histone H3. I->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26439302;Dbxref=PMID:26439302 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377091 P55197 + 0 5 80_80 -59 127 retained Mutagenesis Note=Does not affect interaction with histone H3. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26439302;Dbxref=PMID:26439302 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377091 P55197 + 0 5 106_106 -59 127 retained Mutagenesis Note=Impairs interaction with histone H3. A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26439302;Dbxref=PMID:26439302 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377091 P55197 + 0 5 107_107 -59 127 retained Mutagenesis Note=Impairs interaction with histone H3. Reduces association to chromatin. Does not rescued histone H3 'Lys-79' dimethylation (H3K79me2) levels in MLLT10-depleted cells. Does not rescued DOT1L-target genes in MLLT10-depleted cells. L->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26439302;Dbxref=PMID:26439302 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377091 P55197 + 0 5 109_109 -59 127 retained Mutagenesis Note=Impairs interaction with histone H3. I->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26439302;Dbxref=PMID:26439302 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377091 P55197 + 0 5 114_114 -59 127 retained Mutagenesis Note=Impairs interaction with histone H3. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26439302;Dbxref=PMID:26439302 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377091 P55197 + 0 5 120_120 -59 127 retained Mutagenesis Note=Impairs interaction with histone H3. M->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26439302;Dbxref=PMID:26439302 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377091 P55197 + 0 5 179_179 -59 127 retained Mutagenesis Note=Impairs interaction with histone H3. E->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26439302;Dbxref=PMID:26439302 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377091 P55197 + 0 5 190_190 -59 127 retained Mutagenesis Note=Impairs interaction with histone H3. Y->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26439302;Dbxref=PMID:26439302 Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377091 P55197 + 0 5 26_29 -59 127 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAG Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377091 P55197 + 0 5 39_41 -59 127 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAG Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377091 P55197 + 0 5 50_52 -59 127 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAG Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377091 P55197 + 0 5 53_55 -59 127 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAG Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377091 P55197 + 0 5 69_72 -59 127 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAG Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377091 P55197 + 0 5 73_75 -59 127 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAH Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377091 P55197 + 0 5 77_79 -59 127 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAG Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377091 P55197 + 0 5 83_86 -59 127 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAG Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377091 P55197 + 0 5 89_95 -59 127 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAG Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377091 P55197 + 0 5 98_102 -59 127 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAG Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377091 P55197 + 0 5 103_108 -59 127 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAG Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377091 P55197 + 0 5 113_115 -59 127 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAG Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377091 P55197 + 0 5 117_120 -59 127 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAG Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377091 P55197 + 0 5 122_124 -59 127 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAG Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377091 P55197 + 0 5 130_132 -59 127 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAG Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377091 P55197 + 0 5 138_142 -59 127 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAG Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377091 P55197 + 0 5 146_148 -59 127 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAG Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377091 P55197 + 0 5 159_161 -59 127 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAH Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377091 P55197 + 0 5 168_174 -59 127 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAG Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377091 P55197 + 0 5 177_181 -59 127 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAH Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377091 P55197 + 0 5 183_186 -59 127 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAH Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377091 P55197 + 0 5 188_192 -59 127 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAH Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377091 P55197 + 0 5 195_199 -59 127 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DAG Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377091 P55197 + 0 5 716_733 -59 127 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6CKO Tgene In-frame AF272384 ChiTaRS KMT2A chr11:118355690 MLLT10 chr10:21959376 ENST00000377091 P55197 + 0 5 738_778 -59 127 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6CKO Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000369426 Q9UGM6 - 1 6 1_18 116 221 not_retained Transit peptide Note=Mitochondrion Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000369426 Q9UGM6 - 1 6 19_360 116 221 not_retained Chain ID=PRO_0000035828;Note=Tryptophan--tRNA ligase%2C mitochondrial Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000369426 Q9UGM6 - 1 6 48_51 116 221 not_retained Nucleotide binding Note=ATP;Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EKD Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000369426 Q9UGM6 - 1 6 179_181 116 221 retained Nucleotide binding Note=ATP;Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EKD Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000369426 Q9UGM6 - 1 6 226_230 116 221 retained Nucleotide binding Note=ATP;Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EKD Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000369426 Q9UGM6 - 1 6 42_42 116 221 not_retained Binding site Note=ATP;Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EKD Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000369426 Q9UGM6 - 1 6 167_167 116 221 retained Binding site Note=L-tryptophan;Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EKD Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000369426 Q9UGM6 - 1 6 217_217 116 221 retained Binding site Note=ATP%3B via amide nitrogen and carbonyl oxygen;Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EKD Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000369426 Q9UGM6 - 1 6 212_220 116 221 retained Alternative sequence ID=VSP_041414;Note=In isoform 2. TSMKKVKSL->SMCVLVFLT;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000369426 Q9UGM6 - 1 6 221_360 116 221 retained Alternative sequence ID=VSP_041415;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000369426 Q9UGM6 - 1 6 13_13 116 221 not_retained Natural variant ID=VAR_078435;Note=In NEMMLAS%3B impaired mitochondrial localization. W->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28236339;Dbxref=dbSNP:rs139548132,PMID:28236339 Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000369426 Q9UGM6 - 1 6 45_45 116 221 not_retained Natural variant ID=VAR_079734;Note=In NEMMLAS. G->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28905505;Dbxref=PMID:28905505 Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000369426 Q9UGM6 - 1 6 50_50 116 221 not_retained Natural variant ID=VAR_028848;Note=G->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs11552864,PMID:15489334 Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000369426 Q9UGM6 - 1 6 77_77 116 221 not_retained Natural variant ID=VAR_079735;Note=In NEMMLAS%3B unknown pathological significance. H->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28905505;Dbxref=dbSNP:rs766501807,PMID:28905505 Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000369426 Q9UGM6 - 1 6 100_100 116 221 not_retained Natural variant ID=VAR_079736;Note=In NEMMLAS. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28650581;Dbxref=PMID:28650581 Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000369426 Q9UGM6 - 1 6 178_178 116 221 retained Natural variant ID=VAR_079737;Note=In NEMMLAS. V->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28905505;Dbxref=PMID:28905505 Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000369426 Q9UGM6 - 1 6 267_267 116 221 retained Natural variant ID=VAR_020217;Note=A->P;Dbxref=dbSNP:rs3790549 Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000369426 Q9UGM6 - 1 6 313_313 116 221 retained Natural variant ID=VAR_079738;Note=In NEMMLAS. K->M;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:28650581,ECO:0000269|PubMed:28905505;Dbxref=dbSNP:rs145867327,PMID:28650581,PMID:28905505 Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000369426 Q9UGM6 - 1 6 349_349 116 221 retained Natural variant ID=VAR_079739;Note=In NEMMLAS. V->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28905505;Dbxref=PMID:28905505 Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000369426 Q9UGM6 - 1 6 352_352 116 221 retained Natural variant ID=VAR_079740;Note=In NEMMLAS%3B unknown pathological significance. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28905505;Dbxref=dbSNP:rs563341344,PMID:28905505 Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000369426 Q9UGM6 - 1 6 360_360 116 221 retained Natural variant ID=VAR_052407;Note=L->P;Dbxref=dbSNP:rs17023101 Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000369426 Q9UGM6 - 1 6 151_151 116 221 retained Sequence conflict Note=H->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000369426 Q9UGM6 - 1 6 37_41 116 221 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EKD Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000369426 Q9UGM6 - 1 6 43_45 116 221 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EKD Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000369426 Q9UGM6 - 1 6 49_54 116 221 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EKD Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000369426 Q9UGM6 - 1 6 56_65 116 221 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EKD Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000369426 Q9UGM6 - 1 6 69_73 116 221 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EKD Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000369426 Q9UGM6 - 1 6 75_78 116 221 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EKD Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000369426 Q9UGM6 - 1 6 85_102 116 221 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EKD Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000369426 Q9UGM6 - 1 6 106_108 116 221 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EKD Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000369426 Q9UGM6 - 1 6 109_113 116 221 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EKD Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000369426 Q9UGM6 - 1 6 114_116 116 221 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EKD Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000369426 Q9UGM6 - 1 6 119_128 116 221 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EKD Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000369426 Q9UGM6 - 1 6 133_137 116 221 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EKD Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000369426 Q9UGM6 - 1 6 140_143 116 221 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EKD Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000369426 Q9UGM6 - 1 6 147_152 116 221 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EKD Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000369426 Q9UGM6 - 1 6 155_169 116 221 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EKD Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000369426 Q9UGM6 - 1 6 170_172 116 221 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EKD Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000369426 Q9UGM6 - 1 6 175_177 116 221 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EKD Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000369426 Q9UGM6 - 1 6 180_182 116 221 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EKD Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000369426 Q9UGM6 - 1 6 183_200 116 221 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EKD Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000369426 Q9UGM6 - 1 6 208_210 116 221 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EKD Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000369426 Q9UGM6 - 1 6 213_216 116 221 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EKD Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000369426 Q9UGM6 - 1 6 234_236 116 221 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EKD Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000369426 Q9UGM6 - 1 6 244_253 116 221 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EKD Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000369426 Q9UGM6 - 1 6 266_268 116 221 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EKD Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000369426 Q9UGM6 - 1 6 270_283 116 221 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EKD Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000369426 Q9UGM6 - 1 6 287_293 116 221 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EKD Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000369426 Q9UGM6 - 1 6 294_296 116 221 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EKD Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000369426 Q9UGM6 - 1 6 299_324 116 221 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EKD Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000369426 Q9UGM6 - 1 6 328_357 116 221 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EKD Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000235521 Q9UGM6 - 1 6 1_18 116 361 not_retained Transit peptide Note=Mitochondrion Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000235521 Q9UGM6 - 1 6 19_360 116 361 not_retained Chain ID=PRO_0000035828;Note=Tryptophan--tRNA ligase%2C mitochondrial Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000235521 Q9UGM6 - 1 6 48_51 116 361 not_retained Nucleotide binding Note=ATP;Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EKD Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000235521 Q9UGM6 - 1 6 179_181 116 361 retained Nucleotide binding Note=ATP;Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EKD Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000235521 Q9UGM6 - 1 6 226_230 116 361 retained Nucleotide binding Note=ATP;Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EKD Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000235521 Q9UGM6 - 1 6 42_42 116 361 not_retained Binding site Note=ATP;Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EKD Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000235521 Q9UGM6 - 1 6 167_167 116 361 retained Binding site Note=L-tryptophan;Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EKD Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000235521 Q9UGM6 - 1 6 217_217 116 361 retained Binding site Note=ATP%3B via amide nitrogen and carbonyl oxygen;Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EKD Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000235521 Q9UGM6 - 1 6 212_220 116 361 retained Alternative sequence ID=VSP_041414;Note=In isoform 2. TSMKKVKSL->SMCVLVFLT;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000235521 Q9UGM6 - 1 6 221_360 116 361 retained Alternative sequence ID=VSP_041415;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000235521 Q9UGM6 - 1 6 13_13 116 361 not_retained Natural variant ID=VAR_078435;Note=In NEMMLAS%3B impaired mitochondrial localization. W->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28236339;Dbxref=dbSNP:rs139548132,PMID:28236339 Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000235521 Q9UGM6 - 1 6 45_45 116 361 not_retained Natural variant ID=VAR_079734;Note=In NEMMLAS. G->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28905505;Dbxref=PMID:28905505 Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000235521 Q9UGM6 - 1 6 50_50 116 361 not_retained Natural variant ID=VAR_028848;Note=G->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs11552864,PMID:15489334 Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000235521 Q9UGM6 - 1 6 77_77 116 361 not_retained Natural variant ID=VAR_079735;Note=In NEMMLAS%3B unknown pathological significance. H->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28905505;Dbxref=dbSNP:rs766501807,PMID:28905505 Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000235521 Q9UGM6 - 1 6 100_100 116 361 not_retained Natural variant ID=VAR_079736;Note=In NEMMLAS. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28650581;Dbxref=PMID:28650581 Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000235521 Q9UGM6 - 1 6 178_178 116 361 retained Natural variant ID=VAR_079737;Note=In NEMMLAS. V->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28905505;Dbxref=PMID:28905505 Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000235521 Q9UGM6 - 1 6 267_267 116 361 retained Natural variant ID=VAR_020217;Note=A->P;Dbxref=dbSNP:rs3790549 Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000235521 Q9UGM6 - 1 6 313_313 116 361 retained Natural variant ID=VAR_079738;Note=In NEMMLAS. K->M;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:28650581,ECO:0000269|PubMed:28905505;Dbxref=dbSNP:rs145867327,PMID:28650581,PMID:28905505 Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000235521 Q9UGM6 - 1 6 349_349 116 361 retained Natural variant ID=VAR_079739;Note=In NEMMLAS. V->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28905505;Dbxref=PMID:28905505 Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000235521 Q9UGM6 - 1 6 352_352 116 361 retained Natural variant ID=VAR_079740;Note=In NEMMLAS%3B unknown pathological significance. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28905505;Dbxref=dbSNP:rs563341344,PMID:28905505 Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000235521 Q9UGM6 - 1 6 360_360 116 361 retained Natural variant ID=VAR_052407;Note=L->P;Dbxref=dbSNP:rs17023101 Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000235521 Q9UGM6 - 1 6 151_151 116 361 retained Sequence conflict Note=H->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000235521 Q9UGM6 - 1 6 37_41 116 361 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EKD Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000235521 Q9UGM6 - 1 6 43_45 116 361 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EKD Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000235521 Q9UGM6 - 1 6 49_54 116 361 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EKD Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000235521 Q9UGM6 - 1 6 56_65 116 361 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EKD Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000235521 Q9UGM6 - 1 6 69_73 116 361 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EKD Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000235521 Q9UGM6 - 1 6 75_78 116 361 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EKD Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000235521 Q9UGM6 - 1 6 85_102 116 361 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EKD Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000235521 Q9UGM6 - 1 6 106_108 116 361 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EKD Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000235521 Q9UGM6 - 1 6 109_113 116 361 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EKD Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000235521 Q9UGM6 - 1 6 114_116 116 361 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EKD Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000235521 Q9UGM6 - 1 6 119_128 116 361 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EKD Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000235521 Q9UGM6 - 1 6 133_137 116 361 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EKD Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000235521 Q9UGM6 - 1 6 140_143 116 361 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EKD Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000235521 Q9UGM6 - 1 6 147_152 116 361 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EKD Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000235521 Q9UGM6 - 1 6 155_169 116 361 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EKD Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000235521 Q9UGM6 - 1 6 170_172 116 361 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EKD Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000235521 Q9UGM6 - 1 6 175_177 116 361 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EKD Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000235521 Q9UGM6 - 1 6 180_182 116 361 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EKD Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000235521 Q9UGM6 - 1 6 183_200 116 361 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EKD Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000235521 Q9UGM6 - 1 6 208_210 116 361 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EKD Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000235521 Q9UGM6 - 1 6 213_216 116 361 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EKD Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000235521 Q9UGM6 - 1 6 234_236 116 361 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EKD Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000235521 Q9UGM6 - 1 6 244_253 116 361 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EKD Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000235521 Q9UGM6 - 1 6 266_268 116 361 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EKD Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000235521 Q9UGM6 - 1 6 270_283 116 361 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EKD Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000235521 Q9UGM6 - 1 6 287_293 116 361 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EKD Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000235521 Q9UGM6 - 1 6 294_296 116 361 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EKD Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000235521 Q9UGM6 - 1 6 299_324 116 361 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EKD Tgene In-frame AI672033 ChiTaRS VAV3 chr1:108417521 WARS2 chr1:119588287 ENST00000235521 Q9UGM6 - 1 6 328_357 116 361 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5EKD Tgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000332776 P35125 + 7 37 1_1406 -52 1292 retained Chain ID=PRO_0000080625;Note=Ubiquitin carboxyl-terminal hydrolase 6 Tgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000332776 P35125 + 7 37 100_292 -52 1292 retained Domain Note=Rab-GAP TBC;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00163 Tgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000332776 P35125 + 7 37 532_1369 -52 1292 retained Domain Note=USP Tgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000332776 P35125 + 7 37 541_541 -52 1292 retained Mutagenesis Note=Loss of enzyme activity. C->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16127172;Dbxref=PMID:16127172 Tgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000332776 P35125 + 7 37 1328_1328 -52 1292 retained Active site Note=Proton acceptor;Ontology_term=ECO:0000255,ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU10092,ECO:0000255|PROSITE-ProRule:PRU10093 Tgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000332776 P35125 + 7 37 1_317 -52 1292 retained Alternative sequence ID=VSP_010878;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:1565468;Dbxref=PMID:1565468 Tgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000332776 P35125 + 7 37 318_359 -52 1292 retained Alternative sequence ID=VSP_010879;Note=In isoform 2. GLWARLRNQFFDTWAMNDDTVLKHLRASTKKLTRKQGDLPPP->MPQRLPHARQHTPLPLGSADYRRVVSVRPQGPHRDPKDSRDA;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:1565468;Dbxref=PMID:1565468 Tgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000332776 P35125 + 7 37 774_786 -52 1292 retained Alternative sequence ID=VSP_010880;Note=In isoform 3. NFPQDNQKVQLSV->ISPLHHLQMECSP;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:1565468;Dbxref=PMID:1565468 Tgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000332776 P35125 + 7 37 787_1406 -52 1292 retained Alternative sequence ID=VSP_010881;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:1565468;Dbxref=PMID:1565468 Tgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000332776 P35125 + 7 37 475_475 -52 1292 retained Natural variant ID=VAR_051522;Note=W->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1565468;Dbxref=dbSNP:rs8073787,PMID:1565468 Tgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000332776 P35125 + 7 37 525_525 -52 1292 retained Natural variant ID=VAR_059749;Note=V->I;Dbxref=dbSNP:rs2304449 Tgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000332776 P35125 + 7 37 912_912 -52 1292 retained Natural variant ID=VAR_051523;Note=R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1565468;Dbxref=dbSNP:rs9899177,PMID:1565468 Tgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000332776 P35125 + 7 37 150_150 -52 1292 retained Mutagenesis Note=Does not restore GAP activity in yeast complementation assay. T->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14521938;Dbxref=PMID:14521938 Tgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000332776 P35125 + 7 37 187_187 -52 1292 retained Mutagenesis Note=Does not restore GAP activity in yeast complementation assay. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14521938;Dbxref=PMID:14521938 Tgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000332776 P35125 + 7 37 541_541 -52 1292 retained Mutagenesis Note=Loss of enzyme activity. C->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16127172;Dbxref=PMID:16127172 Tgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000332776 P35125 + 7 37 963_963 -52 1292 retained Sequence conflict Note=N->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000574788 P35125 + 7 38 1_1406 -52 1407 retained Chain ID=PRO_0000080625;Note=Ubiquitin carboxyl-terminal hydrolase 6 Tgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000574788 P35125 + 7 38 100_292 -52 1407 retained Domain Note=Rab-GAP TBC;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00163 Tgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000574788 P35125 + 7 38 532_1369 -52 1407 retained Domain Note=USP Tgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000574788 P35125 + 7 38 541_541 -52 1407 retained Mutagenesis Note=Loss of enzyme activity. C->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16127172;Dbxref=PMID:16127172 Tgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000574788 P35125 + 7 38 1328_1328 -52 1407 retained Active site Note=Proton acceptor;Ontology_term=ECO:0000255,ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU10092,ECO:0000255|PROSITE-ProRule:PRU10093 Tgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000574788 P35125 + 7 38 1_317 -52 1407 retained Alternative sequence ID=VSP_010878;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:1565468;Dbxref=PMID:1565468 Tgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000574788 P35125 + 7 38 318_359 -52 1407 retained Alternative sequence ID=VSP_010879;Note=In isoform 2. GLWARLRNQFFDTWAMNDDTVLKHLRASTKKLTRKQGDLPPP->MPQRLPHARQHTPLPLGSADYRRVVSVRPQGPHRDPKDSRDA;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:1565468;Dbxref=PMID:1565468 Tgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000574788 P35125 + 7 38 774_786 -52 1407 retained Alternative sequence ID=VSP_010880;Note=In isoform 3. NFPQDNQKVQLSV->ISPLHHLQMECSP;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:1565468;Dbxref=PMID:1565468 Tgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000574788 P35125 + 7 38 787_1406 -52 1407 retained Alternative sequence ID=VSP_010881;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:1565468;Dbxref=PMID:1565468 Tgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000574788 P35125 + 7 38 475_475 -52 1407 retained Natural variant ID=VAR_051522;Note=W->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1565468;Dbxref=dbSNP:rs8073787,PMID:1565468 Tgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000574788 P35125 + 7 38 525_525 -52 1407 retained Natural variant ID=VAR_059749;Note=V->I;Dbxref=dbSNP:rs2304449 Tgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000574788 P35125 + 7 38 912_912 -52 1407 retained Natural variant ID=VAR_051523;Note=R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1565468;Dbxref=dbSNP:rs9899177,PMID:1565468 Tgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000574788 P35125 + 7 38 150_150 -52 1407 retained Mutagenesis Note=Does not restore GAP activity in yeast complementation assay. T->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14521938;Dbxref=PMID:14521938 Tgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000574788 P35125 + 7 38 187_187 -52 1407 retained Mutagenesis Note=Does not restore GAP activity in yeast complementation assay. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14521938;Dbxref=PMID:14521938 Tgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000574788 P35125 + 7 38 541_541 -52 1407 retained Mutagenesis Note=Loss of enzyme activity. C->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16127172;Dbxref=PMID:16127172 Tgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000574788 P35125 + 7 38 963_963 -52 1407 retained Sequence conflict Note=N->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000304328 P35125 + 0 31 1_1406 -954 1090 retained Chain ID=PRO_0000080625;Note=Ubiquitin carboxyl-terminal hydrolase 6 Tgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000304328 P35125 + 0 31 100_292 -954 1090 retained Domain Note=Rab-GAP TBC;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00163 Tgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000304328 P35125 + 0 31 532_1369 -954 1090 retained Domain Note=USP Tgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000304328 P35125 + 0 31 541_541 -954 1090 retained Mutagenesis Note=Loss of enzyme activity. C->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16127172;Dbxref=PMID:16127172 Tgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000304328 P35125 + 0 31 1328_1328 -954 1090 retained Active site Note=Proton acceptor;Ontology_term=ECO:0000255,ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU10092,ECO:0000255|PROSITE-ProRule:PRU10093 Tgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000304328 P35125 + 0 31 1_317 -954 1090 retained Alternative sequence ID=VSP_010878;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:1565468;Dbxref=PMID:1565468 Tgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000304328 P35125 + 0 31 318_359 -954 1090 retained Alternative sequence ID=VSP_010879;Note=In isoform 2. GLWARLRNQFFDTWAMNDDTVLKHLRASTKKLTRKQGDLPPP->MPQRLPHARQHTPLPLGSADYRRVVSVRPQGPHRDPKDSRDA;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:1565468;Dbxref=PMID:1565468 Tgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000304328 P35125 + 0 31 774_786 -954 1090 retained Alternative sequence ID=VSP_010880;Note=In isoform 3. NFPQDNQKVQLSV->ISPLHHLQMECSP;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:1565468;Dbxref=PMID:1565468 Tgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000304328 P35125 + 0 31 787_1406 -954 1090 retained Alternative sequence ID=VSP_010881;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:1565468;Dbxref=PMID:1565468 Tgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000304328 P35125 + 0 31 475_475 -954 1090 retained Natural variant ID=VAR_051522;Note=W->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1565468;Dbxref=dbSNP:rs8073787,PMID:1565468 Tgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000304328 P35125 + 0 31 525_525 -954 1090 retained Natural variant ID=VAR_059749;Note=V->I;Dbxref=dbSNP:rs2304449 Tgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000304328 P35125 + 0 31 912_912 -954 1090 retained Natural variant ID=VAR_051523;Note=R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1565468;Dbxref=dbSNP:rs9899177,PMID:1565468 Tgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000304328 P35125 + 0 31 150_150 -954 1090 retained Mutagenesis Note=Does not restore GAP activity in yeast complementation assay. T->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14521938;Dbxref=PMID:14521938 Tgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000304328 P35125 + 0 31 187_187 -954 1090 retained Mutagenesis Note=Does not restore GAP activity in yeast complementation assay. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14521938;Dbxref=PMID:14521938 Tgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000304328 P35125 + 0 31 541_541 -954 1090 retained Mutagenesis Note=Loss of enzyme activity. C->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16127172;Dbxref=PMID:16127172 Tgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000304328 P35125 + 0 31 963_963 -954 1090 retained Sequence conflict Note=N->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000250066 P35125 + 0 30 1_1406 -567 1407 retained Chain ID=PRO_0000080625;Note=Ubiquitin carboxyl-terminal hydrolase 6 Tgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000250066 P35125 + 0 30 100_292 -567 1407 retained Domain Note=Rab-GAP TBC;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00163 Tgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000250066 P35125 + 0 30 532_1369 -567 1407 retained Domain Note=USP Tgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000250066 P35125 + 0 30 541_541 -567 1407 retained Mutagenesis Note=Loss of enzyme activity. C->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16127172;Dbxref=PMID:16127172 Tgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000250066 P35125 + 0 30 1328_1328 -567 1407 retained Active site Note=Proton acceptor;Ontology_term=ECO:0000255,ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU10092,ECO:0000255|PROSITE-ProRule:PRU10093 Tgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000250066 P35125 + 0 30 1_317 -567 1407 retained Alternative sequence ID=VSP_010878;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:1565468;Dbxref=PMID:1565468 Tgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000250066 P35125 + 0 30 318_359 -567 1407 retained Alternative sequence ID=VSP_010879;Note=In isoform 2. GLWARLRNQFFDTWAMNDDTVLKHLRASTKKLTRKQGDLPPP->MPQRLPHARQHTPLPLGSADYRRVVSVRPQGPHRDPKDSRDA;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:1565468;Dbxref=PMID:1565468 Tgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000250066 P35125 + 0 30 774_786 -567 1407 retained Alternative sequence ID=VSP_010880;Note=In isoform 3. NFPQDNQKVQLSV->ISPLHHLQMECSP;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:1565468;Dbxref=PMID:1565468 Tgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000250066 P35125 + 0 30 787_1406 -567 1407 retained Alternative sequence ID=VSP_010881;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:1565468;Dbxref=PMID:1565468 Tgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000250066 P35125 + 0 30 475_475 -567 1407 retained Natural variant ID=VAR_051522;Note=W->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1565468;Dbxref=dbSNP:rs8073787,PMID:1565468 Tgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000250066 P35125 + 0 30 525_525 -567 1407 retained Natural variant ID=VAR_059749;Note=V->I;Dbxref=dbSNP:rs2304449 Tgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000250066 P35125 + 0 30 912_912 -567 1407 retained Natural variant ID=VAR_051523;Note=R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1565468;Dbxref=dbSNP:rs9899177,PMID:1565468 Tgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000250066 P35125 + 0 30 150_150 -567 1407 retained Mutagenesis Note=Does not restore GAP activity in yeast complementation assay. T->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14521938;Dbxref=PMID:14521938 Tgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000250066 P35125 + 0 30 187_187 -567 1407 retained Mutagenesis Note=Does not restore GAP activity in yeast complementation assay. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14521938;Dbxref=PMID:14521938 Tgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000250066 P35125 + 0 30 541_541 -567 1407 retained Mutagenesis Note=Loss of enzyme activity. C->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16127172;Dbxref=PMID:16127172 Tgene 5UTR-5UTR AY624559 ChiTaRS THRAP3 chr1:36690107 USP6 chr17:5033229 ENST00000250066 P35125 + 0 30 963_963 -567 1407 retained Sequence conflict Note=N->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000370283 Q8N6T3 + 0 13 1_406 -47 407 retained Chain ID=PRO_0000074190;Note=ADP-ribosylation factor GTPase-activating protein 1 Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000370283 Q8N6T3 + 0 13 7_124 -47 407 retained Domain Note=Arf-GAP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00288 Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000370283 Q8N6T3 + 0 13 22_45 -47 407 retained Zinc finger Note=C4-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00288 Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000370283 Q8N6T3 + 0 13 135_135 -47 407 retained Modified residue Note=Phosphothreonine;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 Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000370283 Q8N6T3 + 0 13 150_150 -47 407 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000370283 Q8N6T3 + 0 13 189_189 -47 407 retained Modified residue Note=Phosphothreonine;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:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:16964243,PMID:19690332,PMID:20068231,PMID:23186163,PMID:24275569 Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000370283 Q8N6T3 + 0 13 231_231 -47 407 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000370283 Q8N6T3 + 0 13 246_246 -47 407 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000370283 Q8N6T3 + 0 13 304_304 -47 407 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000370283 Q8N6T3 + 0 13 343_343 -47 407 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000370283 Q8N6T3 + 0 13 346_346 -47 407 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9EPJ9 Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000370283 Q8N6T3 + 0 13 348_348 -47 407 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9EPJ9 Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000370283 Q8N6T3 + 0 13 350_350 -47 407 retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000370283 Q8N6T3 + 0 13 361_361 -47 407 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000370283 Q8N6T3 + 0 13 363_363 -47 407 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9EPJ9 Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000370283 Q8N6T3 + 0 13 378_378 -47 407 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q62848 Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000370283 Q8N6T3 + 0 13 1_57 -47 407 retained Alternative sequence ID=VSP_055739;Note=In isoform 5. MASPRTRKVLKEVRVQDENNVCFECGAFNPQWVSVTYGIWICLECSGRHRGLGVHLS->MRTT;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000370283 Q8N6T3 + 0 13 1_34 -47 407 retained Alternative sequence ID=VSP_055379;Note=In isoform 4. MASPRTRKVLKEVRVQDENNVCFECGAFNPQWVS->MLSSESSWSLRRITILAGPCRRSTTAEPRPSLGI;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000370283 Q8N6T3 + 0 13 35_147 -47 407 retained Alternative sequence ID=VSP_055380;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000370283 Q8N6T3 + 0 13 239_239 -47 407 retained Alternative sequence ID=VSP_000298;Note=In isoform 2 and isoform 5. K->KFWGHKQQPEP;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000370283 Q8N6T3 + 0 13 279_406 -47 407 retained Alternative sequence ID=VSP_021818;Note=In isoform 3. VQGVGSKGWRDVTTFFSGKAEGPLDSPSEGHSYQNSGLDHFQNSNIDQSFWETFGSAEPTKTRKSPSSDSWTCADTSTERRSSDSWEVWGSASTNRNSNSDGGEGGEGTKKAVPPAVPTDDGWDNQNW->CQRRLCCHQSHCSAGHLGRAFCPVSWHEALCGQTGREEQASLLPPKHVVGALEVCARGCPRCHVPHTPGTAAEWPGRLCLSRESVVRDGGTSPPFFRGKQRAPWTAPRRATVIRTAVWTTSKTAT;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000370283 Q8N6T3 + 0 13 279_280 -47 407 retained Alternative sequence ID=VSP_000299;Note=In isoform 2 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000370283 Q8N6T3 + 0 13 184_184 -47 407 retained Natural variant ID=VAR_015187;Note=V->M;Dbxref=dbSNP:rs2273499 Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000370283 Q8N6T3 + 0 13 274_274 -47 407 retained Sequence conflict Note=Q->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000370283 Q8N6T3 + 0 13 358_358 -47 407 retained Sequence conflict Note=R->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000370283 Q8N6T3 + 0 13 4_14 -47 407 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DWD Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000370283 Q8N6T3 + 0 13 17_20 -47 407 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DWD Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000370283 Q8N6T3 + 0 13 23_25 -47 407 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DWD Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000370283 Q8N6T3 + 0 13 32_34 -47 407 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DWD Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000370283 Q8N6T3 + 0 13 35_38 -47 407 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DWD Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000370283 Q8N6T3 + 0 13 39_41 -47 407 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DWD Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000370283 Q8N6T3 + 0 13 43_52 -47 407 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DWD Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000370283 Q8N6T3 + 0 13 54_56 -47 407 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DWD Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000370283 Q8N6T3 + 0 13 59_62 -47 407 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DWD Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000370283 Q8N6T3 + 0 13 69_77 -47 407 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DWD Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000370283 Q8N6T3 + 0 13 80_88 -47 407 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DWD Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000370283 Q8N6T3 + 0 13 99_103 -47 407 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DWD Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000370283 Q8N6T3 + 0 13 106_119 -47 407 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DWD Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000370275 Q8N6T3 + 0 14 1_406 -31 404 retained Chain ID=PRO_0000074190;Note=ADP-ribosylation factor GTPase-activating protein 1 Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000370275 Q8N6T3 + 0 14 7_124 -31 404 retained Domain Note=Arf-GAP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00288 Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000370275 Q8N6T3 + 0 14 22_45 -31 404 retained Zinc finger Note=C4-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00288 Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000370275 Q8N6T3 + 0 14 135_135 -31 404 retained Modified residue Note=Phosphothreonine;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 Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000370275 Q8N6T3 + 0 14 150_150 -31 404 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000370275 Q8N6T3 + 0 14 189_189 -31 404 retained Modified residue Note=Phosphothreonine;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:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:16964243,PMID:19690332,PMID:20068231,PMID:23186163,PMID:24275569 Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000370275 Q8N6T3 + 0 14 231_231 -31 404 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000370275 Q8N6T3 + 0 14 246_246 -31 404 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000370275 Q8N6T3 + 0 14 304_304 -31 404 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000370275 Q8N6T3 + 0 14 343_343 -31 404 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000370275 Q8N6T3 + 0 14 346_346 -31 404 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9EPJ9 Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000370275 Q8N6T3 + 0 14 348_348 -31 404 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9EPJ9 Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000370275 Q8N6T3 + 0 14 350_350 -31 404 retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000370275 Q8N6T3 + 0 14 361_361 -31 404 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000370275 Q8N6T3 + 0 14 363_363 -31 404 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9EPJ9 Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000370275 Q8N6T3 + 0 14 378_378 -31 404 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q62848 Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000370275 Q8N6T3 + 0 14 1_57 -31 404 retained Alternative sequence ID=VSP_055739;Note=In isoform 5. MASPRTRKVLKEVRVQDENNVCFECGAFNPQWVSVTYGIWICLECSGRHRGLGVHLS->MRTT;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000370275 Q8N6T3 + 0 14 1_34 -31 404 retained Alternative sequence ID=VSP_055379;Note=In isoform 4. MASPRTRKVLKEVRVQDENNVCFECGAFNPQWVS->MLSSESSWSLRRITILAGPCRRSTTAEPRPSLGI;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000370275 Q8N6T3 + 0 14 35_147 -31 404 retained Alternative sequence ID=VSP_055380;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000370275 Q8N6T3 + 0 14 239_239 -31 404 retained Alternative sequence ID=VSP_000298;Note=In isoform 2 and isoform 5. K->KFWGHKQQPEP;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000370275 Q8N6T3 + 0 14 279_406 -31 404 retained Alternative sequence ID=VSP_021818;Note=In isoform 3. VQGVGSKGWRDVTTFFSGKAEGPLDSPSEGHSYQNSGLDHFQNSNIDQSFWETFGSAEPTKTRKSPSSDSWTCADTSTERRSSDSWEVWGSASTNRNSNSDGGEGGEGTKKAVPPAVPTDDGWDNQNW->CQRRLCCHQSHCSAGHLGRAFCPVSWHEALCGQTGREEQASLLPPKHVVGALEVCARGCPRCHVPHTPGTAAEWPGRLCLSRESVVRDGGTSPPFFRGKQRAPWTAPRRATVIRTAVWTTSKTAT;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000370275 Q8N6T3 + 0 14 279_280 -31 404 retained Alternative sequence ID=VSP_000299;Note=In isoform 2 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000370275 Q8N6T3 + 0 14 184_184 -31 404 retained Natural variant ID=VAR_015187;Note=V->M;Dbxref=dbSNP:rs2273499 Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000370275 Q8N6T3 + 0 14 274_274 -31 404 retained Sequence conflict Note=Q->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000370275 Q8N6T3 + 0 14 358_358 -31 404 retained Sequence conflict Note=R->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000370275 Q8N6T3 + 0 14 4_14 -31 404 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DWD Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000370275 Q8N6T3 + 0 14 17_20 -31 404 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DWD Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000370275 Q8N6T3 + 0 14 23_25 -31 404 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DWD Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000370275 Q8N6T3 + 0 14 32_34 -31 404 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DWD Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000370275 Q8N6T3 + 0 14 35_38 -31 404 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DWD Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000370275 Q8N6T3 + 0 14 39_41 -31 404 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DWD Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000370275 Q8N6T3 + 0 14 43_52 -31 404 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DWD Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000370275 Q8N6T3 + 0 14 54_56 -31 404 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DWD Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000370275 Q8N6T3 + 0 14 59_62 -31 404 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DWD Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000370275 Q8N6T3 + 0 14 69_77 -31 404 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DWD Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000370275 Q8N6T3 + 0 14 80_88 -31 404 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DWD Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000370275 Q8N6T3 + 0 14 99_103 -31 404 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DWD Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000370275 Q8N6T3 + 0 14 106_119 -31 404 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DWD Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000353546 Q8N6T3 + 0 14 1_406 -20 415 retained Chain ID=PRO_0000074190;Note=ADP-ribosylation factor GTPase-activating protein 1 Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000353546 Q8N6T3 + 0 14 7_124 -20 415 retained Domain Note=Arf-GAP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00288 Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000353546 Q8N6T3 + 0 14 22_45 -20 415 retained Zinc finger Note=C4-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00288 Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000353546 Q8N6T3 + 0 14 135_135 -20 415 retained Modified residue Note=Phosphothreonine;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 Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000353546 Q8N6T3 + 0 14 150_150 -20 415 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000353546 Q8N6T3 + 0 14 189_189 -20 415 retained Modified residue Note=Phosphothreonine;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:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:16964243,PMID:19690332,PMID:20068231,PMID:23186163,PMID:24275569 Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000353546 Q8N6T3 + 0 14 231_231 -20 415 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000353546 Q8N6T3 + 0 14 246_246 -20 415 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000353546 Q8N6T3 + 0 14 304_304 -20 415 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000353546 Q8N6T3 + 0 14 343_343 -20 415 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000353546 Q8N6T3 + 0 14 346_346 -20 415 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9EPJ9 Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000353546 Q8N6T3 + 0 14 348_348 -20 415 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9EPJ9 Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000353546 Q8N6T3 + 0 14 350_350 -20 415 retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000353546 Q8N6T3 + 0 14 361_361 -20 415 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000353546 Q8N6T3 + 0 14 363_363 -20 415 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9EPJ9 Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000353546 Q8N6T3 + 0 14 378_378 -20 415 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q62848 Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000353546 Q8N6T3 + 0 14 1_57 -20 415 retained Alternative sequence ID=VSP_055739;Note=In isoform 5. MASPRTRKVLKEVRVQDENNVCFECGAFNPQWVSVTYGIWICLECSGRHRGLGVHLS->MRTT;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000353546 Q8N6T3 + 0 14 1_34 -20 415 retained Alternative sequence ID=VSP_055379;Note=In isoform 4. MASPRTRKVLKEVRVQDENNVCFECGAFNPQWVS->MLSSESSWSLRRITILAGPCRRSTTAEPRPSLGI;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000353546 Q8N6T3 + 0 14 35_147 -20 415 retained Alternative sequence ID=VSP_055380;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000353546 Q8N6T3 + 0 14 239_239 -20 415 retained Alternative sequence ID=VSP_000298;Note=In isoform 2 and isoform 5. K->KFWGHKQQPEP;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000353546 Q8N6T3 + 0 14 279_406 -20 415 retained Alternative sequence ID=VSP_021818;Note=In isoform 3. VQGVGSKGWRDVTTFFSGKAEGPLDSPSEGHSYQNSGLDHFQNSNIDQSFWETFGSAEPTKTRKSPSSDSWTCADTSTERRSSDSWEVWGSASTNRNSNSDGGEGGEGTKKAVPPAVPTDDGWDNQNW->CQRRLCCHQSHCSAGHLGRAFCPVSWHEALCGQTGREEQASLLPPKHVVGALEVCARGCPRCHVPHTPGTAAEWPGRLCLSRESVVRDGGTSPPFFRGKQRAPWTAPRRATVIRTAVWTTSKTAT;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000353546 Q8N6T3 + 0 14 279_280 -20 415 retained Alternative sequence ID=VSP_000299;Note=In isoform 2 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000353546 Q8N6T3 + 0 14 184_184 -20 415 retained Natural variant ID=VAR_015187;Note=V->M;Dbxref=dbSNP:rs2273499 Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000353546 Q8N6T3 + 0 14 274_274 -20 415 retained Sequence conflict Note=Q->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000353546 Q8N6T3 + 0 14 358_358 -20 415 retained Sequence conflict Note=R->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000353546 Q8N6T3 + 0 14 4_14 -20 415 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DWD Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000353546 Q8N6T3 + 0 14 17_20 -20 415 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DWD Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000353546 Q8N6T3 + 0 14 23_25 -20 415 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DWD Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000353546 Q8N6T3 + 0 14 32_34 -20 415 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DWD Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000353546 Q8N6T3 + 0 14 35_38 -20 415 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DWD Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000353546 Q8N6T3 + 0 14 39_41 -20 415 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DWD Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000353546 Q8N6T3 + 0 14 43_52 -20 415 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DWD Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000353546 Q8N6T3 + 0 14 54_56 -20 415 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DWD Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000353546 Q8N6T3 + 0 14 59_62 -20 415 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DWD Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000353546 Q8N6T3 + 0 14 69_77 -20 415 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DWD Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000353546 Q8N6T3 + 0 14 80_88 -20 415 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DWD Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000353546 Q8N6T3 + 0 14 99_103 -20 415 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DWD Tgene 3UTR-3UTR BF435836 ChiTaRS ARFGAP1 chr20:61921078 ARFGAP1 chr20:61919533 ENST00000353546 Q8N6T3 + 0 14 106_119 -20 415 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DWD Tgene 5CDS-intron AA255952 ChiTaRS GGA2 chr16:23505624 RPF1 chr1:84956001 ENST00000370654 Q9H9Y2 + 3 9 1_349 154 350 not_retained Chain ID=PRO_0000120248;Note=Ribosome production factor 1 Tgene 5CDS-intron AA255952 ChiTaRS GGA2 chr16:23505624 RPF1 chr1:84956001 ENST00000370654 Q9H9Y2 + 3 9 142_325 154 350 not_retained Domain Note=Brix;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00034 Tgene 5CDS-intron AA255952 ChiTaRS GGA2 chr16:23505624 RPF1 chr1:84956001 ENST00000370654 Q9H9Y2 + 3 9 303_320 154 350 retained Region Note=RNA-binding;Ontology_term=ECO:0000250;evidence=ECO:0000250 Tgene 5CDS-intron AA255952 ChiTaRS GGA2 chr16:23505624 RPF1 chr1:84956001 ENST00000370654 Q9H9Y2 + 3 9 9_9 154 350 not_retained Natural variant ID=VAR_022871;Note=S->G;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14702039,ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs2292191,PMID:14702039,PMID:15489334 Tgene 5CDS-intron AA255952 ChiTaRS GGA2 chr16:23505624 RPF1 chr1:84956001 ENST00000370654 Q9H9Y2 + 3 9 223_223 154 350 retained Natural variant ID=VAR_048421;Note=M->I;Dbxref=dbSNP:rs7528067 Tgene In-frame DA020849 ChiTaRS LMCD1 chr3:8543667 PBX3 chr9:128691932 ENST00000342287 P40426 + 2 8 1_434 172 764 not_retained Chain ID=PRO_0000049239;Note=Pre-B-cell leukemia transcription factor 3 Tgene In-frame DA020849 ChiTaRS LMCD1 chr3:8543667 PBX3 chr9:128691932 ENST00000342287 P40426 + 2 8 235_297 172 764 retained DNA binding Note=Homeobox%3B TALE-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00108 Tgene In-frame DA020849 ChiTaRS LMCD1 chr3:8543667 PBX3 chr9:128691932 ENST00000342287 P40426 + 2 8 130_138 172 764 not_retained Compositional bias Note=Poly-Ala Tgene In-frame DA020849 ChiTaRS LMCD1 chr3:8543667 PBX3 chr9:128691932 ENST00000342287 P40426 + 2 8 1_181 172 764 not_retained Alternative sequence ID=VSP_002275;Note=In isoform PBX3c and isoform PBX3d. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11579467,ECO:0000303|PubMed:14702039;Dbxref=PMID:11579467,PMID:14702039 Tgene In-frame DA020849 ChiTaRS LMCD1 chr3:8543667 PBX3 chr9:128691932 ENST00000342287 P40426 + 2 8 1_75 172 764 not_retained Alternative sequence ID=VSP_046311;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene In-frame DA020849 ChiTaRS LMCD1 chr3:8543667 PBX3 chr9:128691932 ENST00000342287 P40426 + 2 8 338_351 172 764 retained Alternative sequence ID=VSP_002276;Note=In isoform PBX3b and isoform PBX3d. SSGSFNLPNSGDMF->GYPPSCYQSDGRLQ;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11579467,ECO:0000303|PubMed:1682799;Dbxref=PMID:11579467,PMID:1682799 Tgene In-frame DA020849 ChiTaRS LMCD1 chr3:8543667 PBX3 chr9:128691932 ENST00000342287 P40426 + 2 8 352_434 172 764 retained Alternative sequence ID=VSP_002277;Note=In isoform PBX3b and isoform PBX3d. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11579467,ECO:0000303|PubMed:1682799;Dbxref=PMID:11579467,PMID:1682799 Tgene In-frame DA020849 ChiTaRS LMCD1 chr3:8543667 PBX3 chr9:128691932 ENST00000342287 P40426 + 2 8 323_323 172 764 retained Sequence conflict Note=V->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame DA020849 ChiTaRS LMCD1 chr3:8543667 PBX3 chr9:128691932 ENST00000342287 P40426 + 2 8 398_398 172 764 retained Sequence conflict Note=Y->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame DA020849 ChiTaRS LMCD1 chr3:8543667 PBX3 chr9:128691932 ENST00000373489 P40426 + 2 9 1_434 172 435 not_retained Chain ID=PRO_0000049239;Note=Pre-B-cell leukemia transcription factor 3 Tgene In-frame DA020849 ChiTaRS LMCD1 chr3:8543667 PBX3 chr9:128691932 ENST00000373489 P40426 + 2 9 235_297 172 435 retained DNA binding Note=Homeobox%3B TALE-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00108 Tgene In-frame DA020849 ChiTaRS LMCD1 chr3:8543667 PBX3 chr9:128691932 ENST00000373489 P40426 + 2 9 130_138 172 435 not_retained Compositional bias Note=Poly-Ala Tgene In-frame DA020849 ChiTaRS LMCD1 chr3:8543667 PBX3 chr9:128691932 ENST00000373489 P40426 + 2 9 1_181 172 435 not_retained Alternative sequence ID=VSP_002275;Note=In isoform PBX3c and isoform PBX3d. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11579467,ECO:0000303|PubMed:14702039;Dbxref=PMID:11579467,PMID:14702039 Tgene In-frame DA020849 ChiTaRS LMCD1 chr3:8543667 PBX3 chr9:128691932 ENST00000373489 P40426 + 2 9 1_75 172 435 not_retained Alternative sequence ID=VSP_046311;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene In-frame DA020849 ChiTaRS LMCD1 chr3:8543667 PBX3 chr9:128691932 ENST00000373489 P40426 + 2 9 338_351 172 435 retained Alternative sequence ID=VSP_002276;Note=In isoform PBX3b and isoform PBX3d. SSGSFNLPNSGDMF->GYPPSCYQSDGRLQ;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11579467,ECO:0000303|PubMed:1682799;Dbxref=PMID:11579467,PMID:1682799 Tgene In-frame DA020849 ChiTaRS LMCD1 chr3:8543667 PBX3 chr9:128691932 ENST00000373489 P40426 + 2 9 352_434 172 435 retained Alternative sequence ID=VSP_002277;Note=In isoform PBX3b and isoform PBX3d. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11579467,ECO:0000303|PubMed:1682799;Dbxref=PMID:11579467,PMID:1682799 Tgene In-frame DA020849 ChiTaRS LMCD1 chr3:8543667 PBX3 chr9:128691932 ENST00000373489 P40426 + 2 9 323_323 172 435 retained Sequence conflict Note=V->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame DA020849 ChiTaRS LMCD1 chr3:8543667 PBX3 chr9:128691932 ENST00000373489 P40426 + 2 9 398_398 172 435 retained Sequence conflict Note=Y->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame DA020849 ChiTaRS LMCD1 chr3:8543667 PBX3 chr9:128691932 ENST00000373483 P40426 + 1 8 1_434 -9 254 retained Chain ID=PRO_0000049239;Note=Pre-B-cell leukemia transcription factor 3 Tgene In-frame DA020849 ChiTaRS LMCD1 chr3:8543667 PBX3 chr9:128691932 ENST00000373483 P40426 + 1 8 235_297 -9 254 retained DNA binding Note=Homeobox%3B TALE-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00108 Tgene In-frame DA020849 ChiTaRS LMCD1 chr3:8543667 PBX3 chr9:128691932 ENST00000373483 P40426 + 1 8 130_138 -9 254 retained Compositional bias Note=Poly-Ala Tgene In-frame DA020849 ChiTaRS LMCD1 chr3:8543667 PBX3 chr9:128691932 ENST00000373483 P40426 + 1 8 1_181 -9 254 retained Alternative sequence ID=VSP_002275;Note=In isoform PBX3c and isoform PBX3d. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11579467,ECO:0000303|PubMed:14702039;Dbxref=PMID:11579467,PMID:14702039 Tgene In-frame DA020849 ChiTaRS LMCD1 chr3:8543667 PBX3 chr9:128691932 ENST00000373483 P40426 + 1 8 1_75 -9 254 retained Alternative sequence ID=VSP_046311;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene In-frame DA020849 ChiTaRS LMCD1 chr3:8543667 PBX3 chr9:128691932 ENST00000373483 P40426 + 1 8 338_351 -9 254 retained Alternative sequence ID=VSP_002276;Note=In isoform PBX3b and isoform PBX3d. SSGSFNLPNSGDMF->GYPPSCYQSDGRLQ;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11579467,ECO:0000303|PubMed:1682799;Dbxref=PMID:11579467,PMID:1682799 Tgene In-frame DA020849 ChiTaRS LMCD1 chr3:8543667 PBX3 chr9:128691932 ENST00000373483 P40426 + 1 8 352_434 -9 254 retained Alternative sequence ID=VSP_002277;Note=In isoform PBX3b and isoform PBX3d. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11579467,ECO:0000303|PubMed:1682799;Dbxref=PMID:11579467,PMID:1682799 Tgene In-frame DA020849 ChiTaRS LMCD1 chr3:8543667 PBX3 chr9:128691932 ENST00000373483 P40426 + 1 8 323_323 -9 254 retained Sequence conflict Note=V->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame DA020849 ChiTaRS LMCD1 chr3:8543667 PBX3 chr9:128691932 ENST00000373483 P40426 + 1 8 398_398 -9 254 retained Sequence conflict Note=Y->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame DA020849 ChiTaRS LMCD1 chr3:8543667 PBX3 chr9:128691932 ENST00000447726 P40426 + 2 9 1_434 97 360 not_retained Chain ID=PRO_0000049239;Note=Pre-B-cell leukemia transcription factor 3 Tgene In-frame DA020849 ChiTaRS LMCD1 chr3:8543667 PBX3 chr9:128691932 ENST00000447726 P40426 + 2 9 235_297 97 360 retained DNA binding Note=Homeobox%3B TALE-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00108 Tgene In-frame DA020849 ChiTaRS LMCD1 chr3:8543667 PBX3 chr9:128691932 ENST00000447726 P40426 + 2 9 130_138 97 360 retained Compositional bias Note=Poly-Ala Tgene In-frame DA020849 ChiTaRS LMCD1 chr3:8543667 PBX3 chr9:128691932 ENST00000447726 P40426 + 2 9 1_181 97 360 not_retained Alternative sequence ID=VSP_002275;Note=In isoform PBX3c and isoform PBX3d. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11579467,ECO:0000303|PubMed:14702039;Dbxref=PMID:11579467,PMID:14702039 Tgene In-frame DA020849 ChiTaRS LMCD1 chr3:8543667 PBX3 chr9:128691932 ENST00000447726 P40426 + 2 9 1_75 97 360 not_retained Alternative sequence ID=VSP_046311;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene In-frame DA020849 ChiTaRS LMCD1 chr3:8543667 PBX3 chr9:128691932 ENST00000447726 P40426 + 2 9 338_351 97 360 retained Alternative sequence ID=VSP_002276;Note=In isoform PBX3b and isoform PBX3d. SSGSFNLPNSGDMF->GYPPSCYQSDGRLQ;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11579467,ECO:0000303|PubMed:1682799;Dbxref=PMID:11579467,PMID:1682799 Tgene In-frame DA020849 ChiTaRS LMCD1 chr3:8543667 PBX3 chr9:128691932 ENST00000447726 P40426 + 2 9 352_434 97 360 retained Alternative sequence ID=VSP_002277;Note=In isoform PBX3b and isoform PBX3d. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11579467,ECO:0000303|PubMed:1682799;Dbxref=PMID:11579467,PMID:1682799 Tgene In-frame DA020849 ChiTaRS LMCD1 chr3:8543667 PBX3 chr9:128691932 ENST00000447726 P40426 + 2 9 323_323 97 360 retained Sequence conflict Note=V->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame DA020849 ChiTaRS LMCD1 chr3:8543667 PBX3 chr9:128691932 ENST00000447726 P40426 + 2 9 398_398 97 360 retained Sequence conflict Note=Y->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 1_1 626 738 not_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 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 2_737 626 738 not_retained Chain ID=PRO_0000078238;Note=Dipeptidyl peptidase 3 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 451_451 626 738 not_retained Active site Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O55096 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 450_450 626 738 not_retained Metal binding Note=Zinc%3B catalytic;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244|PDB:3FVY,ECO:0000269|PubMed:22493238;Dbxref=PMID:22493238 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 455_455 626 738 not_retained Metal binding Note=Zinc%3B catalytic;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244|PDB:3FVY,ECO:0000269|PubMed:22493238;Dbxref=PMID:22493238 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 508_508 626 738 not_retained Metal binding Note=Zinc%3B catalytic;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244|PDB:3FVY,ECO:0000269|PubMed:22493238;Dbxref=PMID:22493238 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 2_2 626 738 not_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 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 91_120 626 738 not_retained Alternative sequence ID=VSP_044696;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 182_601 626 738 not_retained Alternative sequence ID=VSP_005510;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 76_76 626 738 not_retained Natural variant ID=VAR_033494;Note=R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs11826683,PMID:15489334 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 145_145 626 738 not_retained Natural variant ID=VAR_033495;Note=Q->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.1;Dbxref=dbSNP:rs11550299 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 678_678 626 738 retained Natural variant ID=VAR_021850;Note=R->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:9425109,ECO:0000269|Ref.1;Dbxref=dbSNP:rs2305535,PMID:9425109 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 690_690 626 738 retained Natural variant ID=VAR_051597;Note=E->K;Dbxref=dbSNP:rs12421620 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 224_224 626 738 not_retained Sequence conflict Note=P->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 417_419 626 738 not_retained Sequence conflict Note=YAT->TA;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 697_697 626 738 retained Sequence conflict Note=I->Y;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 4_6 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3T6J Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 14_16 626 738 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 20_25 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 28_50 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 56_69 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 72_81 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 86_102 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 104_106 626 738 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 108_110 626 738 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 120_128 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 131_135 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 137_152 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 156_158 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 159_161 626 738 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 164_166 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FVY Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 170_172 626 738 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 178_190 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 198_204 626 738 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 206_208 626 738 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3T6J Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 210_217 626 738 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 222_224 626 738 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3T6B Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 231_233 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 235_239 626 738 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 242_250 626 738 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 252_266 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 272_287 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 290_302 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 307_316 626 738 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 318_323 626 738 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 327_335 626 738 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 337_346 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 350_353 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 354_356 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 357_359 626 738 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 361_363 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 372_384 626 738 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 388_392 626 738 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 396_401 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 405_409 626 738 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 410_416 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 421_423 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FVY Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 429_452 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 453_456 626 738 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 465_467 626 738 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 469_471 626 738 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 473_475 626 738 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 479_481 626 738 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 482_484 626 738 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 495_499 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 500_502 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 503_518 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 524_527 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 533_552 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 553_556 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 559_562 626 738 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 563_565 626 738 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FVY Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 567_581 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 586_593 626 738 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 597_605 626 738 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 607_609 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 610_613 626 738 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 614_630 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 634_644 626 738 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 651_653 626 738 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 655_664 626 738 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 671_673 626 738 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 676_680 626 738 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 683_687 626 738 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 693_701 626 738 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 705_707 626 738 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 708_721 626 738 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000453114 Q9NY33 + 15 18 722_725 626 738 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 1_1 626 738 not_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 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 2_737 626 738 not_retained Chain ID=PRO_0000078238;Note=Dipeptidyl peptidase 3 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 451_451 626 738 not_retained Active site Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O55096 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 450_450 626 738 not_retained Metal binding Note=Zinc%3B catalytic;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244|PDB:3FVY,ECO:0000269|PubMed:22493238;Dbxref=PMID:22493238 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 455_455 626 738 not_retained Metal binding Note=Zinc%3B catalytic;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244|PDB:3FVY,ECO:0000269|PubMed:22493238;Dbxref=PMID:22493238 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 508_508 626 738 not_retained Metal binding Note=Zinc%3B catalytic;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244|PDB:3FVY,ECO:0000269|PubMed:22493238;Dbxref=PMID:22493238 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 2_2 626 738 not_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 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 91_120 626 738 not_retained Alternative sequence ID=VSP_044696;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 182_601 626 738 not_retained Alternative sequence ID=VSP_005510;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 76_76 626 738 not_retained Natural variant ID=VAR_033494;Note=R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs11826683,PMID:15489334 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 145_145 626 738 not_retained Natural variant ID=VAR_033495;Note=Q->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.1;Dbxref=dbSNP:rs11550299 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 678_678 626 738 retained Natural variant ID=VAR_021850;Note=R->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:9425109,ECO:0000269|Ref.1;Dbxref=dbSNP:rs2305535,PMID:9425109 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 690_690 626 738 retained Natural variant ID=VAR_051597;Note=E->K;Dbxref=dbSNP:rs12421620 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 224_224 626 738 not_retained Sequence conflict Note=P->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 417_419 626 738 not_retained Sequence conflict Note=YAT->TA;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 697_697 626 738 retained Sequence conflict Note=I->Y;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 4_6 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3T6J Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 14_16 626 738 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 20_25 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 28_50 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 56_69 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 72_81 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 86_102 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 104_106 626 738 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 108_110 626 738 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 120_128 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 131_135 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 137_152 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 156_158 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 159_161 626 738 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 164_166 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FVY Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 170_172 626 738 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 178_190 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 198_204 626 738 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 206_208 626 738 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3T6J Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 210_217 626 738 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 222_224 626 738 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3T6B Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 231_233 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 235_239 626 738 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 242_250 626 738 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 252_266 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 272_287 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 290_302 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 307_316 626 738 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 318_323 626 738 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 327_335 626 738 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 337_346 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 350_353 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 354_356 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 357_359 626 738 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 361_363 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 372_384 626 738 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 388_392 626 738 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 396_401 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 405_409 626 738 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 410_416 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 421_423 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FVY Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 429_452 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 453_456 626 738 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 465_467 626 738 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 469_471 626 738 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 473_475 626 738 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 479_481 626 738 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 482_484 626 738 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 495_499 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 500_502 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 503_518 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 524_527 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 533_552 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 553_556 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 559_562 626 738 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 563_565 626 738 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FVY Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 567_581 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 586_593 626 738 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 597_605 626 738 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 607_609 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 610_613 626 738 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 614_630 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 634_644 626 738 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 651_653 626 738 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 655_664 626 738 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 671_673 626 738 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 676_680 626 738 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 683_687 626 738 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 693_701 626 738 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 705_707 626 738 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 708_721 626 738 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000360510 Q9NY33 + 15 18 722_725 626 738 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 1_1 626 738 not_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 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 2_737 626 738 not_retained Chain ID=PRO_0000078238;Note=Dipeptidyl peptidase 3 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 451_451 626 738 not_retained Active site Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O55096 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 450_450 626 738 not_retained Metal binding Note=Zinc%3B catalytic;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244|PDB:3FVY,ECO:0000269|PubMed:22493238;Dbxref=PMID:22493238 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 455_455 626 738 not_retained Metal binding Note=Zinc%3B catalytic;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244|PDB:3FVY,ECO:0000269|PubMed:22493238;Dbxref=PMID:22493238 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 508_508 626 738 not_retained Metal binding Note=Zinc%3B catalytic;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244|PDB:3FVY,ECO:0000269|PubMed:22493238;Dbxref=PMID:22493238 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 2_2 626 738 not_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 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 91_120 626 738 not_retained Alternative sequence ID=VSP_044696;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 182_601 626 738 not_retained Alternative sequence ID=VSP_005510;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 76_76 626 738 not_retained Natural variant ID=VAR_033494;Note=R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs11826683,PMID:15489334 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 145_145 626 738 not_retained Natural variant ID=VAR_033495;Note=Q->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.1;Dbxref=dbSNP:rs11550299 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 678_678 626 738 retained Natural variant ID=VAR_021850;Note=R->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:9425109,ECO:0000269|Ref.1;Dbxref=dbSNP:rs2305535,PMID:9425109 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 690_690 626 738 retained Natural variant ID=VAR_051597;Note=E->K;Dbxref=dbSNP:rs12421620 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 224_224 626 738 not_retained Sequence conflict Note=P->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 417_419 626 738 not_retained Sequence conflict Note=YAT->TA;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 697_697 626 738 retained Sequence conflict Note=I->Y;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 4_6 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3T6J Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 14_16 626 738 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 20_25 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 28_50 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 56_69 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 72_81 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 86_102 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 104_106 626 738 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 108_110 626 738 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 120_128 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 131_135 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 137_152 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 156_158 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 159_161 626 738 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 164_166 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FVY Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 170_172 626 738 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 178_190 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 198_204 626 738 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 206_208 626 738 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3T6J Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 210_217 626 738 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 222_224 626 738 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3T6B Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 231_233 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 235_239 626 738 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 242_250 626 738 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 252_266 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 272_287 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 290_302 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 307_316 626 738 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 318_323 626 738 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 327_335 626 738 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 337_346 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 350_353 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 354_356 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 357_359 626 738 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 361_363 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 372_384 626 738 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 388_392 626 738 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 396_401 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 405_409 626 738 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 410_416 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 421_423 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FVY Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 429_452 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 453_456 626 738 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 465_467 626 738 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 469_471 626 738 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 473_475 626 738 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 479_481 626 738 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 482_484 626 738 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 495_499 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 500_502 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 503_518 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 524_527 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 533_552 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 553_556 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 559_562 626 738 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 563_565 626 738 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FVY Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 567_581 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 586_593 626 738 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 597_605 626 738 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 607_609 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 610_613 626 738 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 614_630 626 738 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 634_644 626 738 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 651_653 626 738 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 655_664 626 738 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 671_673 626 738 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 676_680 626 738 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 683_687 626 738 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 693_701 626 738 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 705_707 626 738 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 708_721 626 738 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000541961 Q9NY33 + 15 18 722_725 626 738 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 1_1 596 708 not_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 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 2_737 596 708 not_retained Chain ID=PRO_0000078238;Note=Dipeptidyl peptidase 3 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 451_451 596 708 not_retained Active site Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O55096 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 450_450 596 708 not_retained Metal binding Note=Zinc%3B catalytic;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244|PDB:3FVY,ECO:0000269|PubMed:22493238;Dbxref=PMID:22493238 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 455_455 596 708 not_retained Metal binding Note=Zinc%3B catalytic;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244|PDB:3FVY,ECO:0000269|PubMed:22493238;Dbxref=PMID:22493238 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 508_508 596 708 not_retained Metal binding Note=Zinc%3B catalytic;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244|PDB:3FVY,ECO:0000269|PubMed:22493238;Dbxref=PMID:22493238 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 2_2 596 708 not_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 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 91_120 596 708 not_retained Alternative sequence ID=VSP_044696;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 182_601 596 708 not_retained Alternative sequence ID=VSP_005510;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 76_76 596 708 not_retained Natural variant ID=VAR_033494;Note=R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs11826683,PMID:15489334 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 145_145 596 708 not_retained Natural variant ID=VAR_033495;Note=Q->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.1;Dbxref=dbSNP:rs11550299 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 678_678 596 708 retained Natural variant ID=VAR_021850;Note=R->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:9425109,ECO:0000269|Ref.1;Dbxref=dbSNP:rs2305535,PMID:9425109 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 690_690 596 708 retained Natural variant ID=VAR_051597;Note=E->K;Dbxref=dbSNP:rs12421620 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 224_224 596 708 not_retained Sequence conflict Note=P->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 417_419 596 708 not_retained Sequence conflict Note=YAT->TA;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 697_697 596 708 retained Sequence conflict Note=I->Y;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 4_6 596 708 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3T6J Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 14_16 596 708 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 20_25 596 708 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 28_50 596 708 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 56_69 596 708 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 72_81 596 708 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 86_102 596 708 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 104_106 596 708 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 108_110 596 708 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 120_128 596 708 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 131_135 596 708 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 137_152 596 708 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 156_158 596 708 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 159_161 596 708 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 164_166 596 708 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FVY Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 170_172 596 708 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 178_190 596 708 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 198_204 596 708 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 206_208 596 708 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3T6J Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 210_217 596 708 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 222_224 596 708 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3T6B Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 231_233 596 708 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 235_239 596 708 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 242_250 596 708 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 252_266 596 708 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 272_287 596 708 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 290_302 596 708 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 307_316 596 708 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 318_323 596 708 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 327_335 596 708 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 337_346 596 708 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 350_353 596 708 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 354_356 596 708 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 357_359 596 708 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 361_363 596 708 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 372_384 596 708 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 388_392 596 708 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 396_401 596 708 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 405_409 596 708 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 410_416 596 708 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 421_423 596 708 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FVY Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 429_452 596 708 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 453_456 596 708 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 465_467 596 708 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 469_471 596 708 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 473_475 596 708 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 479_481 596 708 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 482_484 596 708 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 495_499 596 708 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 500_502 596 708 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 503_518 596 708 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 524_527 596 708 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 533_552 596 708 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 553_556 596 708 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 559_562 596 708 not_retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 563_565 596 708 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FVY Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 567_581 596 708 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 586_593 596 708 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 597_605 596 708 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 607_609 596 708 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 610_613 596 708 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 614_630 596 708 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 634_644 596 708 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 651_653 596 708 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 655_664 596 708 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 671_673 596 708 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 676_680 596 708 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 683_687 596 708 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 693_701 596 708 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 705_707 596 708 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 708_721 596 708 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 5UTR-3CDS DC369559 ChiTaRS PPP6R3 chr11:68228297 DPP3 chr11:66272080 ENST00000530165 Q9NY33 + 14 17 722_725 596 708 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5E33 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000605788 Q14978 + 0 13 1_699 -79 700 retained Chain ID=PRO_0000096942;Note=Nucleolar and coiled-body phosphoprotein 1 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000605788 Q14978 + 0 13 10_42 -79 700 retained Domain Note=LisH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00126 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000605788 Q14978 + 0 13 84_95 -79 700 retained Repeat Note=Acidic serine cluster 1 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000605788 Q14978 + 0 13 125_136 -79 700 retained Repeat Note=Acidic serine cluster 2 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000605788 Q14978 + 0 13 167_178 -79 700 retained Repeat Note=Acidic serine cluster 3 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000605788 Q14978 + 0 13 221_232 -79 700 retained Repeat Note=Acidic serine cluster 4 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000605788 Q14978 + 0 13 264_275 -79 700 retained Repeat Note=Acidic serine cluster 5 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000605788 Q14978 + 0 13 325_336 -79 700 retained Repeat Note=Acidic serine cluster 6 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000605788 Q14978 + 0 13 363_375 -79 700 retained Repeat Note=Acidic serine cluster 7 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000605788 Q14978 + 0 13 425_436 -79 700 retained Repeat Note=Acidic serine cluster 8 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000605788 Q14978 + 0 13 470_481 -79 700 retained Repeat Note=Acidic serine cluster 9 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000605788 Q14978 + 0 13 519_529 -79 700 retained Repeat Note=Acidic serine cluster 10 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000605788 Q14978 + 0 13 555_566 -79 700 retained Repeat Note=Acidic serine cluster 11 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000605788 Q14978 + 0 13 84_566 -79 700 retained Region Note=11 X 12 AA approximate repeats of an acidic serine cluster Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000605788 Q14978 + 0 13 204_382 -79 700 retained Region Note=Interaction with RPA194 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000605788 Q14978 + 0 13 68_82 -79 700 retained Motif Note=Nuclear localization signal;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000605788 Q14978 + 0 13 384_587 -79 700 retained Motif Note=Nuclear localization signal;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000605788 Q14978 + 0 13 601_617 -79 700 retained Motif Note=Nuclear localization signal;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000605788 Q14978 + 0 13 33_33 -79 700 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000605788 Q14978 + 0 13 87_87 -79 700 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000605788 Q14978 + 0 13 90_90 -79 700 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000605788 Q14978 + 0 13 91_91 -79 700 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000605788 Q14978 + 0 13 188_188 -79 700 retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000605788 Q14978 + 0 13 362_362 -79 700 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000605788 Q14978 + 0 13 363_363 -79 700 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000605788 Q14978 + 0 13 366_366 -79 700 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000605788 Q14978 + 0 13 397_397 -79 700 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 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000605788 Q14978 + 0 13 415_415 -79 700 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 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000605788 Q14978 + 0 13 456_456 -79 700 retained Natural variant ID=VAR_031678;Note=S->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7584026;Dbxref=dbSNP:rs1049455,PMID:7584026 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000605788 Q14978 + 0 13 508_508 -79 700 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17924679,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:17924679,PMID:18669648,PMID:20068231,PMID:23186163 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000605788 Q14978 + 0 13 538_538 -79 700 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:17924679,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163;Dbxref=PMID:17081983,PMID:17924679,PMID:20068231,PMID:21406692,PMID:23186163 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000605788 Q14978 + 0 13 563_563 -79 700 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:18318008,ECO:0000244|PubMed:20068231;Dbxref=PMID:17081983,PMID:18318008,PMID:20068231 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000605788 Q14978 + 0 13 580_580 -79 700 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 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000605788 Q14978 + 0 13 582_582 -79 700 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 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000605788 Q14978 + 0 13 607_607 -79 700 retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:15144186,ECO:0000244|PubMed:16964243,ECO:0000244|PubMed:17924679,ECO:0000244|PubMed:23186163;Dbxref=PMID:15144186,PMID:16964243,PMID:17924679,PMID:23186163 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000605788 Q14978 + 0 13 610_610 -79 700 retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:15144186,ECO:0000244|PubMed:16964243,ECO:0000244|PubMed:17924679,ECO:0000244|PubMed:23186163;Dbxref=PMID:15144186,PMID:16964243,PMID:17924679,PMID:23186163 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000605788 Q14978 + 0 13 622_622 -79 700 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:21406692;Dbxref=PMID:21406692 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000605788 Q14978 + 0 13 643_643 -79 700 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:17924679,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163;Dbxref=PMID:16964243,PMID:17924679,PMID:20068231,PMID:21406692,PMID:23186163 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000605788 Q14978 + 0 13 663_663 -79 700 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 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000605788 Q14978 + 0 13 683_683 -79 700 retained Modified residue Note=Omega-N-methylarginine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24129315;Dbxref=PMID:24129315 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000605788 Q14978 + 0 13 686_686 -79 700 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000605788 Q14978 + 0 13 698_698 -79 700 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:16964243,ECO:0000244|PubMed:17081983,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:16964243,PMID:17081983,PMID:18669648,PMID:19690332,PMID:20068231,PMID:21406692,PMID:23186163,PMID:24275569 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000605788 Q14978 + 0 13 67_67 -79 700 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 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000605788 Q14978 + 0 13 76_76 -79 700 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 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000605788 Q14978 + 0 13 186_186 -79 700 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 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000605788 Q14978 + 0 13 193_193 -79 700 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 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000605788 Q14978 + 0 13 342_342 -79 700 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 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000605788 Q14978 + 0 13 347_347 -79 700 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 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000605788 Q14978 + 0 13 390_390 -79 700 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 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000605788 Q14978 + 0 13 396_396 -79 700 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 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000605788 Q14978 + 0 13 401_401 -79 700 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 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000605788 Q14978 + 0 13 407_407 -79 700 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 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000605788 Q14978 + 0 13 415_415 -79 700 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 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000605788 Q14978 + 0 13 415_415 -79 700 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 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000605788 Q14978 + 0 13 440_440 -79 700 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 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000605788 Q14978 + 0 13 452_452 -79 700 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 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000605788 Q14978 + 0 13 505_505 -79 700 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 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000605788 Q14978 + 0 13 572_572 -79 700 retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:25114211;Dbxref=PMID:25114211 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000605788 Q14978 + 0 13 579_579 -79 700 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 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000605788 Q14978 + 0 13 604_604 -79 700 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:25772364,ECO:0000244|PubMed:28112733;Dbxref=PMID:25772364,PMID:28112733 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000605788 Q14978 + 0 13 613_613 -79 700 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 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000605788 Q14978 + 0 13 647_647 -79 700 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 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000605788 Q14978 + 0 13 663_663 -79 700 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 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000605788 Q14978 + 0 13 695_695 -79 700 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 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000605788 Q14978 + 0 13 58_59 -79 700 retained Alternative sequence ID=VSP_035415;Note=In isoform 3. LK->LNR;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|Ref.2;Dbxref=PMID:15489334 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000605788 Q14978 + 0 13 241_241 -79 700 retained Alternative sequence ID=VSP_004338;Note=In isoform Beta. K->KVWTITSVRAE;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:7584026;Dbxref=PMID:7584026 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000605788 Q14978 + 0 13 412_412 -79 700 retained Natural variant ID=VAR_031677;Note=G->V;Dbxref=dbSNP:rs11191224 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000605788 Q14978 + 0 13 456_456 -79 700 retained Natural variant ID=VAR_031678;Note=S->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7584026;Dbxref=dbSNP:rs1049455,PMID:7584026 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000605788 Q14978 + 0 13 3_3 -79 700 retained Sequence conflict Note=D->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000605788 Q14978 + 0 13 133_133 -79 700 retained Sequence conflict Note=S->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000605788 Q14978 + 0 13 291_292 -79 700 retained Sequence conflict Note=SV->YA;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000405356 Q14978 + 0 13 1_699 -79 710 retained Chain ID=PRO_0000096942;Note=Nucleolar and coiled-body phosphoprotein 1 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000405356 Q14978 + 0 13 10_42 -79 710 retained Domain Note=LisH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00126 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000405356 Q14978 + 0 13 84_95 -79 710 retained Repeat Note=Acidic serine cluster 1 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000405356 Q14978 + 0 13 125_136 -79 710 retained Repeat Note=Acidic serine cluster 2 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000405356 Q14978 + 0 13 167_178 -79 710 retained Repeat Note=Acidic serine cluster 3 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000405356 Q14978 + 0 13 221_232 -79 710 retained Repeat Note=Acidic serine cluster 4 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000405356 Q14978 + 0 13 264_275 -79 710 retained Repeat Note=Acidic serine cluster 5 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000405356 Q14978 + 0 13 325_336 -79 710 retained Repeat Note=Acidic serine cluster 6 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000405356 Q14978 + 0 13 363_375 -79 710 retained Repeat Note=Acidic serine cluster 7 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000405356 Q14978 + 0 13 425_436 -79 710 retained Repeat Note=Acidic serine cluster 8 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000405356 Q14978 + 0 13 470_481 -79 710 retained Repeat Note=Acidic serine cluster 9 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000405356 Q14978 + 0 13 519_529 -79 710 retained Repeat Note=Acidic serine cluster 10 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000405356 Q14978 + 0 13 555_566 -79 710 retained Repeat Note=Acidic serine cluster 11 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000405356 Q14978 + 0 13 84_566 -79 710 retained Region Note=11 X 12 AA approximate repeats of an acidic serine cluster Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000405356 Q14978 + 0 13 204_382 -79 710 retained Region Note=Interaction with RPA194 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000405356 Q14978 + 0 13 68_82 -79 710 retained Motif Note=Nuclear localization signal;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000405356 Q14978 + 0 13 384_587 -79 710 retained Motif Note=Nuclear localization signal;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000405356 Q14978 + 0 13 601_617 -79 710 retained Motif Note=Nuclear localization signal;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000405356 Q14978 + 0 13 33_33 -79 710 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000405356 Q14978 + 0 13 87_87 -79 710 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000405356 Q14978 + 0 13 90_90 -79 710 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000405356 Q14978 + 0 13 91_91 -79 710 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000405356 Q14978 + 0 13 188_188 -79 710 retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000405356 Q14978 + 0 13 362_362 -79 710 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000405356 Q14978 + 0 13 363_363 -79 710 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000405356 Q14978 + 0 13 366_366 -79 710 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000405356 Q14978 + 0 13 397_397 -79 710 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 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000405356 Q14978 + 0 13 415_415 -79 710 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 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000405356 Q14978 + 0 13 456_456 -79 710 retained Natural variant ID=VAR_031678;Note=S->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7584026;Dbxref=dbSNP:rs1049455,PMID:7584026 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000405356 Q14978 + 0 13 508_508 -79 710 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17924679,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:17924679,PMID:18669648,PMID:20068231,PMID:23186163 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000405356 Q14978 + 0 13 538_538 -79 710 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:17924679,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163;Dbxref=PMID:17081983,PMID:17924679,PMID:20068231,PMID:21406692,PMID:23186163 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000405356 Q14978 + 0 13 563_563 -79 710 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:18318008,ECO:0000244|PubMed:20068231;Dbxref=PMID:17081983,PMID:18318008,PMID:20068231 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000405356 Q14978 + 0 13 580_580 -79 710 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 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000405356 Q14978 + 0 13 582_582 -79 710 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 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000405356 Q14978 + 0 13 607_607 -79 710 retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:15144186,ECO:0000244|PubMed:16964243,ECO:0000244|PubMed:17924679,ECO:0000244|PubMed:23186163;Dbxref=PMID:15144186,PMID:16964243,PMID:17924679,PMID:23186163 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000405356 Q14978 + 0 13 610_610 -79 710 retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:15144186,ECO:0000244|PubMed:16964243,ECO:0000244|PubMed:17924679,ECO:0000244|PubMed:23186163;Dbxref=PMID:15144186,PMID:16964243,PMID:17924679,PMID:23186163 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000405356 Q14978 + 0 13 622_622 -79 710 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:21406692;Dbxref=PMID:21406692 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000405356 Q14978 + 0 13 643_643 -79 710 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:17924679,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163;Dbxref=PMID:16964243,PMID:17924679,PMID:20068231,PMID:21406692,PMID:23186163 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000405356 Q14978 + 0 13 663_663 -79 710 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 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000405356 Q14978 + 0 13 683_683 -79 710 retained Modified residue Note=Omega-N-methylarginine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24129315;Dbxref=PMID:24129315 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000405356 Q14978 + 0 13 686_686 -79 710 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000405356 Q14978 + 0 13 698_698 -79 710 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:16964243,ECO:0000244|PubMed:17081983,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:16964243,PMID:17081983,PMID:18669648,PMID:19690332,PMID:20068231,PMID:21406692,PMID:23186163,PMID:24275569 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000405356 Q14978 + 0 13 67_67 -79 710 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 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000405356 Q14978 + 0 13 76_76 -79 710 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 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000405356 Q14978 + 0 13 186_186 -79 710 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 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000405356 Q14978 + 0 13 193_193 -79 710 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 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000405356 Q14978 + 0 13 342_342 -79 710 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 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000405356 Q14978 + 0 13 347_347 -79 710 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 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000405356 Q14978 + 0 13 390_390 -79 710 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 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000405356 Q14978 + 0 13 396_396 -79 710 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 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000405356 Q14978 + 0 13 401_401 -79 710 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 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000405356 Q14978 + 0 13 407_407 -79 710 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 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000405356 Q14978 + 0 13 415_415 -79 710 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 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000405356 Q14978 + 0 13 415_415 -79 710 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 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000405356 Q14978 + 0 13 440_440 -79 710 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 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000405356 Q14978 + 0 13 452_452 -79 710 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 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000405356 Q14978 + 0 13 505_505 -79 710 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 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000405356 Q14978 + 0 13 572_572 -79 710 retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:25114211;Dbxref=PMID:25114211 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000405356 Q14978 + 0 13 579_579 -79 710 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 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000405356 Q14978 + 0 13 604_604 -79 710 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:25772364,ECO:0000244|PubMed:28112733;Dbxref=PMID:25772364,PMID:28112733 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000405356 Q14978 + 0 13 613_613 -79 710 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 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000405356 Q14978 + 0 13 647_647 -79 710 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 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000405356 Q14978 + 0 13 663_663 -79 710 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 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000405356 Q14978 + 0 13 695_695 -79 710 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 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000405356 Q14978 + 0 13 58_59 -79 710 retained Alternative sequence ID=VSP_035415;Note=In isoform 3. LK->LNR;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|Ref.2;Dbxref=PMID:15489334 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000405356 Q14978 + 0 13 241_241 -79 710 retained Alternative sequence ID=VSP_004338;Note=In isoform Beta. K->KVWTITSVRAE;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:7584026;Dbxref=PMID:7584026 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000405356 Q14978 + 0 13 412_412 -79 710 retained Natural variant ID=VAR_031677;Note=G->V;Dbxref=dbSNP:rs11191224 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000405356 Q14978 + 0 13 456_456 -79 710 retained Natural variant ID=VAR_031678;Note=S->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7584026;Dbxref=dbSNP:rs1049455,PMID:7584026 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000405356 Q14978 + 0 13 3_3 -79 710 retained Sequence conflict Note=D->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000405356 Q14978 + 0 13 133_133 -79 710 retained Sequence conflict Note=S->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000405356 Q14978 + 0 13 291_292 -79 710 retained Sequence conflict Note=SV->YA;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000488254 Q14978 + 0 13 1_699 -3 701 retained Chain ID=PRO_0000096942;Note=Nucleolar and coiled-body phosphoprotein 1 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000488254 Q14978 + 0 13 10_42 -3 701 retained Domain Note=LisH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00126 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000488254 Q14978 + 0 13 84_95 -3 701 retained Repeat Note=Acidic serine cluster 1 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000488254 Q14978 + 0 13 125_136 -3 701 retained Repeat Note=Acidic serine cluster 2 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000488254 Q14978 + 0 13 167_178 -3 701 retained Repeat Note=Acidic serine cluster 3 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000488254 Q14978 + 0 13 221_232 -3 701 retained Repeat Note=Acidic serine cluster 4 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000488254 Q14978 + 0 13 264_275 -3 701 retained Repeat Note=Acidic serine cluster 5 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000488254 Q14978 + 0 13 325_336 -3 701 retained Repeat Note=Acidic serine cluster 6 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000488254 Q14978 + 0 13 363_375 -3 701 retained Repeat Note=Acidic serine cluster 7 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000488254 Q14978 + 0 13 425_436 -3 701 retained Repeat Note=Acidic serine cluster 8 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000488254 Q14978 + 0 13 470_481 -3 701 retained Repeat Note=Acidic serine cluster 9 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000488254 Q14978 + 0 13 519_529 -3 701 retained Repeat Note=Acidic serine cluster 10 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000488254 Q14978 + 0 13 555_566 -3 701 retained Repeat Note=Acidic serine cluster 11 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000488254 Q14978 + 0 13 84_566 -3 701 retained Region Note=11 X 12 AA approximate repeats of an acidic serine cluster Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000488254 Q14978 + 0 13 204_382 -3 701 retained Region Note=Interaction with RPA194 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000488254 Q14978 + 0 13 68_82 -3 701 retained Motif Note=Nuclear localization signal;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000488254 Q14978 + 0 13 384_587 -3 701 retained Motif Note=Nuclear localization signal;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000488254 Q14978 + 0 13 601_617 -3 701 retained Motif Note=Nuclear localization signal;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000488254 Q14978 + 0 13 33_33 -3 701 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000488254 Q14978 + 0 13 87_87 -3 701 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000488254 Q14978 + 0 13 90_90 -3 701 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000488254 Q14978 + 0 13 91_91 -3 701 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000488254 Q14978 + 0 13 188_188 -3 701 retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000488254 Q14978 + 0 13 362_362 -3 701 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000488254 Q14978 + 0 13 363_363 -3 701 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000488254 Q14978 + 0 13 366_366 -3 701 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000488254 Q14978 + 0 13 397_397 -3 701 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 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000488254 Q14978 + 0 13 415_415 -3 701 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 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000488254 Q14978 + 0 13 456_456 -3 701 retained Natural variant ID=VAR_031678;Note=S->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7584026;Dbxref=dbSNP:rs1049455,PMID:7584026 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000488254 Q14978 + 0 13 508_508 -3 701 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17924679,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:17924679,PMID:18669648,PMID:20068231,PMID:23186163 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000488254 Q14978 + 0 13 538_538 -3 701 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:17924679,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163;Dbxref=PMID:17081983,PMID:17924679,PMID:20068231,PMID:21406692,PMID:23186163 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000488254 Q14978 + 0 13 563_563 -3 701 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:18318008,ECO:0000244|PubMed:20068231;Dbxref=PMID:17081983,PMID:18318008,PMID:20068231 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000488254 Q14978 + 0 13 580_580 -3 701 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 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000488254 Q14978 + 0 13 582_582 -3 701 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 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000488254 Q14978 + 0 13 607_607 -3 701 retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:15144186,ECO:0000244|PubMed:16964243,ECO:0000244|PubMed:17924679,ECO:0000244|PubMed:23186163;Dbxref=PMID:15144186,PMID:16964243,PMID:17924679,PMID:23186163 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000488254 Q14978 + 0 13 610_610 -3 701 retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:15144186,ECO:0000244|PubMed:16964243,ECO:0000244|PubMed:17924679,ECO:0000244|PubMed:23186163;Dbxref=PMID:15144186,PMID:16964243,PMID:17924679,PMID:23186163 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000488254 Q14978 + 0 13 622_622 -3 701 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:21406692;Dbxref=PMID:21406692 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000488254 Q14978 + 0 13 643_643 -3 701 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:17924679,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163;Dbxref=PMID:16964243,PMID:17924679,PMID:20068231,PMID:21406692,PMID:23186163 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000488254 Q14978 + 0 13 663_663 -3 701 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 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000488254 Q14978 + 0 13 683_683 -3 701 retained Modified residue Note=Omega-N-methylarginine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24129315;Dbxref=PMID:24129315 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000488254 Q14978 + 0 13 686_686 -3 701 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000488254 Q14978 + 0 13 698_698 -3 701 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:16964243,ECO:0000244|PubMed:17081983,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:16964243,PMID:17081983,PMID:18669648,PMID:19690332,PMID:20068231,PMID:21406692,PMID:23186163,PMID:24275569 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000488254 Q14978 + 0 13 67_67 -3 701 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 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000488254 Q14978 + 0 13 76_76 -3 701 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 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000488254 Q14978 + 0 13 186_186 -3 701 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 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000488254 Q14978 + 0 13 193_193 -3 701 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 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000488254 Q14978 + 0 13 342_342 -3 701 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 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000488254 Q14978 + 0 13 347_347 -3 701 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 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000488254 Q14978 + 0 13 390_390 -3 701 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 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000488254 Q14978 + 0 13 396_396 -3 701 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 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000488254 Q14978 + 0 13 401_401 -3 701 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 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000488254 Q14978 + 0 13 407_407 -3 701 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 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000488254 Q14978 + 0 13 415_415 -3 701 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 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000488254 Q14978 + 0 13 415_415 -3 701 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 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000488254 Q14978 + 0 13 440_440 -3 701 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 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000488254 Q14978 + 0 13 452_452 -3 701 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 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000488254 Q14978 + 0 13 505_505 -3 701 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 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000488254 Q14978 + 0 13 572_572 -3 701 retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:25114211;Dbxref=PMID:25114211 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000488254 Q14978 + 0 13 579_579 -3 701 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 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000488254 Q14978 + 0 13 604_604 -3 701 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:25772364,ECO:0000244|PubMed:28112733;Dbxref=PMID:25772364,PMID:28112733 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000488254 Q14978 + 0 13 613_613 -3 701 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 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000488254 Q14978 + 0 13 647_647 -3 701 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 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000488254 Q14978 + 0 13 663_663 -3 701 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 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000488254 Q14978 + 0 13 695_695 -3 701 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 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000488254 Q14978 + 0 13 58_59 -3 701 retained Alternative sequence ID=VSP_035415;Note=In isoform 3. LK->LNR;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|Ref.2;Dbxref=PMID:15489334 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000488254 Q14978 + 0 13 241_241 -3 701 retained Alternative sequence ID=VSP_004338;Note=In isoform Beta. K->KVWTITSVRAE;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:7584026;Dbxref=PMID:7584026 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000488254 Q14978 + 0 13 412_412 -3 701 retained Natural variant ID=VAR_031677;Note=G->V;Dbxref=dbSNP:rs11191224 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000488254 Q14978 + 0 13 456_456 -3 701 retained Natural variant ID=VAR_031678;Note=S->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7584026;Dbxref=dbSNP:rs1049455,PMID:7584026 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000488254 Q14978 + 0 13 3_3 -3 701 retained Sequence conflict Note=D->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000488254 Q14978 + 0 13 133_133 -3 701 retained Sequence conflict Note=S->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 3UTR-intron AW071437 ChiTaRS NISCH chr3:52526791 NOLC1 chr10:103919781 ENST00000488254 Q14978 + 0 13 291_292 -3 701 retained Sequence conflict Note=SV->YA;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000315869 P19532 - 4 10 1_575 295 576 not_retained Chain ID=PRO_0000127471;Note=Transcription factor E3 Tgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000315869 P19532 - 4 10 346_399 295 576 retained Domain Note=bHLH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00981 Tgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000315869 P19532 - 4 10 260_271 295 576 not_retained Region Note=Strong transcription activation domain;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000315869 P19532 - 4 10 409_430 295 576 retained Region Note=Leucine-zipper Tgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000315869 P19532 - 4 10 178_179 295 576 not_retained Site Note=Breakpoint for translocation to form PRCC-TFE3 oncogene Tgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000315869 P19532 - 4 10 260_261 295 576 not_retained Site Note=Breakpoint for translocation to form ASPSCR1-TFE3 oncogene Tgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000315869 P19532 - 4 10 295_296 295 576 retained Site Note=Breakpoint for translocation to form NONO-TFE3%2C PSF-TFE3 and ASPSCR1-TFE3 oncogenes Tgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000315869 P19532 - 4 10 188_188 295 576 not_retained Modified residue Note=Asymmetric dimethylarginine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q64092 Tgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000315869 P19532 - 4 10 542_542 295 576 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 Tgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000315869 P19532 - 4 10 548_548 295 576 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 Tgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000315869 P19532 - 4 10 554_554 295 576 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q64092 Tgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000315869 P19532 - 4 10 556_556 295 576 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 Tgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000315869 P19532 - 4 10 560_560 295 576 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 Tgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000315869 P19532 - 4 10 568_568 295 576 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:21406692;Dbxref=PMID:21406692 Tgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000315869 P19532 - 4 10 339_339 295 576 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 Tgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000315869 P19532 - 4 10 77_109 295 576 not_retained Alternative sequence ID=VSP_056882;Note=In isoform 2. SLPISLQATPATPATLSASSSAGGSRTPAMSSS->RGLQDPCHVVIFFIEGLAAAAANAGPGAGAGEA;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 Tgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000315869 P19532 - 4 10 110_575 295 576 not_retained Alternative sequence ID=VSP_056883;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 Tgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000315869 P19532 - 4 10 96_96 295 576 not_retained Natural variant ID=VAR_027501;Note=S->C;Dbxref=dbSNP:rs5953258 Tgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000315869 P19532 - 4 10 313_313 295 576 retained Natural variant ID=VAR_027502;Note=T->A;Dbxref=dbSNP:rs3027470 Tgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000315869 P19532 - 4 10 172_172 295 576 not_retained Sequence conflict Note=V->M;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000315869 P19532 - 4 10 219_219 295 576 not_retained Sequence conflict Note=P->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000315869 P19532 - 4 10 222_222 295 576 not_retained Sequence conflict Note=P->K;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000315869 P19532 - 4 10 229_229 295 576 not_retained Sequence conflict Note=P->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000315869 P19532 - 4 10 443_443 295 576 retained Sequence conflict Note=P->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000315869 P19532 - 4 10 455_455 295 576 retained Sequence conflict Note=A->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000315869 P19532 - 4 10 455_455 295 576 retained Sequence conflict Note=A->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000315869 P19532 - 4 10 475_475 295 576 retained Sequence conflict Note=A->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AY034077 ChiTaRS ASPSCR1 chr17:79954722 TFE3 chrX:48891767 ENST00000315869 P19532 - 4 10 575_575 295 576 retained Sequence conflict Note=S->M;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 0 7 1_1192 -110 200 retained Chain ID=PRO_0000168165;Note=Reticulon-4 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 0 7 1_1018 -110 200 retained Topological domain Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 0 7 1019_1039 -110 200 retained Transmembrane Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 0 7 1040_1133 -110 200 retained Topological domain Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 0 7 1134_1154 -110 200 retained Transmembrane Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 0 7 1155_1192 -110 200 retained Topological domain Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 0 7 1005_1192 -110 200 retained Domain Note=Reticulon;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00170 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 0 7 30_47 -110 200 retained Compositional bias Note=Poly-Glu Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 0 7 143_148 -110 200 retained Compositional bias Note=Poly-Pro Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 0 7 1_1 -110 200 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 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 0 7 7_7 -110 200 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 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 0 7 15_15 -110 200 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 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 0 7 107_107 -110 200 retained Sequence conflict Note=S->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 0 7 152_152 -110 200 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 0 7 181_181 -110 200 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 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 0 7 182_182 -110 200 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 0 7 184_184 -110 200 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 0 7 361_361 -110 200 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 0 7 446_446 -110 200 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9JK11 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 0 7 450_450 -110 200 retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9JK11 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 0 7 511_511 -110 200 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 0 7 749_749 -110 200 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 0 7 858_858 -110 200 retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9JK11 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 0 7 881_881 -110 200 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 0 7 991_991 -110 200 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 0 7 1104_1104 -110 200 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 0 7 1_993 -110 200 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 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 0 7 1_206 -110 200 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 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 0 7 58_289 -110 200 retained Alternative sequence ID=VSP_005654;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.9 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 0 7 186_1004 -110 200 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 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 0 7 205_1004 -110 200 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 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 0 7 994_1004 -110 200 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 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 0 7 357_357 -110 200 retained Natural variant ID=VAR_053633;Note=D->V;Dbxref=dbSNP:rs11677099 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 0 7 429_429 -110 200 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 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 0 7 899_899 -110 200 retained Natural variant ID=VAR_053634;Note=E->Q;Dbxref=dbSNP:rs6757519 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 0 7 920_920 -110 200 retained Natural variant ID=VAR_053635;Note=S->C;Dbxref=dbSNP:rs6757705 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 0 7 107_107 -110 200 retained Sequence conflict Note=S->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 0 7 135_135 -110 200 retained Sequence conflict Note=E->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 0 7 458_458 -110 200 retained Sequence conflict Note=S->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 0 7 564_564 -110 200 retained Sequence conflict Note=N->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 0 7 1059_1062 -110 200 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G31 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 0 7 1063_1070 -110 200 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G31 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 0 7 1074_1094 -110 200 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G31 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 0 7 1095_1097 -110 200 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G31 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394609 Q9NQC3 - 0 7 1100_1107 -110 200 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G31 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 0 9 1_1192 -45 987 retained Chain ID=PRO_0000168165;Note=Reticulon-4 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 0 9 1_1018 -45 987 retained Topological domain Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 0 9 1019_1039 -45 987 retained Transmembrane Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 0 9 1040_1133 -45 987 retained Topological domain Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 0 9 1134_1154 -45 987 retained Transmembrane Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 0 9 1155_1192 -45 987 retained Topological domain Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 0 9 1005_1192 -45 987 retained Domain Note=Reticulon;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00170 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 0 9 30_47 -45 987 retained Compositional bias Note=Poly-Glu Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 0 9 143_148 -45 987 retained Compositional bias Note=Poly-Pro Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 0 9 1_1 -45 987 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 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 0 9 7_7 -45 987 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 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 0 9 15_15 -45 987 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 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 0 9 107_107 -45 987 retained Sequence conflict Note=S->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 0 9 152_152 -45 987 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 0 9 181_181 -45 987 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 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 0 9 182_182 -45 987 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 0 9 184_184 -45 987 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 0 9 361_361 -45 987 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 0 9 446_446 -45 987 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9JK11 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 0 9 450_450 -45 987 retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9JK11 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 0 9 511_511 -45 987 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 0 9 749_749 -45 987 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 0 9 858_858 -45 987 retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9JK11 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 0 9 881_881 -45 987 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 0 9 991_991 -45 987 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 0 9 1104_1104 -45 987 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 0 9 1_993 -45 987 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 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 0 9 1_206 -45 987 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 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 0 9 58_289 -45 987 retained Alternative sequence ID=VSP_005654;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.9 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 0 9 186_1004 -45 987 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 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 0 9 205_1004 -45 987 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 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 0 9 994_1004 -45 987 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 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 0 9 357_357 -45 987 retained Natural variant ID=VAR_053633;Note=D->V;Dbxref=dbSNP:rs11677099 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 0 9 429_429 -45 987 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 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 0 9 899_899 -45 987 retained Natural variant ID=VAR_053634;Note=E->Q;Dbxref=dbSNP:rs6757519 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 0 9 920_920 -45 987 retained Natural variant ID=VAR_053635;Note=S->C;Dbxref=dbSNP:rs6757705 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 0 9 107_107 -45 987 retained Sequence conflict Note=S->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 0 9 135_135 -45 987 retained Sequence conflict Note=E->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 0 9 458_458 -45 987 retained Sequence conflict Note=S->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 0 9 564_564 -45 987 retained Sequence conflict Note=N->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 0 9 1059_1062 -45 987 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G31 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 0 9 1063_1070 -45 987 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G31 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 0 9 1074_1094 -45 987 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G31 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 0 9 1095_1097 -45 987 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G31 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000405240 Q9NQC3 - 0 9 1100_1107 -45 987 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G31 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 0 9 1_1192 -61 987 retained Chain ID=PRO_0000168165;Note=Reticulon-4 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 0 9 1_1018 -61 987 retained Topological domain Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 0 9 1019_1039 -61 987 retained Transmembrane Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 0 9 1040_1133 -61 987 retained Topological domain Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 0 9 1134_1154 -61 987 retained Transmembrane Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 0 9 1155_1192 -61 987 retained Topological domain Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 0 9 1005_1192 -61 987 retained Domain Note=Reticulon;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00170 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 0 9 30_47 -61 987 retained Compositional bias Note=Poly-Glu Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 0 9 143_148 -61 987 retained Compositional bias Note=Poly-Pro Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 0 9 1_1 -61 987 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 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 0 9 7_7 -61 987 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 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 0 9 15_15 -61 987 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 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 0 9 107_107 -61 987 retained Sequence conflict Note=S->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 0 9 152_152 -61 987 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 0 9 181_181 -61 987 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 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 0 9 182_182 -61 987 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 0 9 184_184 -61 987 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 0 9 361_361 -61 987 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 0 9 446_446 -61 987 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9JK11 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 0 9 450_450 -61 987 retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9JK11 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 0 9 511_511 -61 987 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 0 9 749_749 -61 987 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 0 9 858_858 -61 987 retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9JK11 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 0 9 881_881 -61 987 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 0 9 991_991 -61 987 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 0 9 1104_1104 -61 987 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 0 9 1_993 -61 987 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 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 0 9 1_206 -61 987 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 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 0 9 58_289 -61 987 retained Alternative sequence ID=VSP_005654;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.9 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 0 9 186_1004 -61 987 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 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 0 9 205_1004 -61 987 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 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 0 9 994_1004 -61 987 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 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 0 9 357_357 -61 987 retained Natural variant ID=VAR_053633;Note=D->V;Dbxref=dbSNP:rs11677099 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 0 9 429_429 -61 987 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 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 0 9 899_899 -61 987 retained Natural variant ID=VAR_053634;Note=E->Q;Dbxref=dbSNP:rs6757519 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 0 9 920_920 -61 987 retained Natural variant ID=VAR_053635;Note=S->C;Dbxref=dbSNP:rs6757705 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 0 9 107_107 -61 987 retained Sequence conflict Note=S->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 0 9 135_135 -61 987 retained Sequence conflict Note=E->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 0 9 458_458 -61 987 retained Sequence conflict Note=S->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 0 9 564_564 -61 987 retained Sequence conflict Note=N->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 0 9 1059_1062 -61 987 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G31 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 0 9 1063_1070 -61 987 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G31 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 0 9 1074_1094 -61 987 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G31 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 0 9 1095_1097 -61 987 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G31 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357376 Q9NQC3 - 0 9 1100_1107 -61 987 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G31 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 0 7 1_1192 -82 374 retained Chain ID=PRO_0000168165;Note=Reticulon-4 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 0 7 1_1018 -82 374 retained Topological domain Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 0 7 1019_1039 -82 374 retained Transmembrane Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 0 7 1040_1133 -82 374 retained Topological domain Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 0 7 1134_1154 -82 374 retained Transmembrane Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 0 7 1155_1192 -82 374 retained Topological domain Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 0 7 1005_1192 -82 374 retained Domain Note=Reticulon;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00170 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 0 7 30_47 -82 374 retained Compositional bias Note=Poly-Glu Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 0 7 143_148 -82 374 retained Compositional bias Note=Poly-Pro Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 0 7 1_1 -82 374 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 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 0 7 7_7 -82 374 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 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 0 7 15_15 -82 374 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 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 0 7 107_107 -82 374 retained Sequence conflict Note=S->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 0 7 152_152 -82 374 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 0 7 181_181 -82 374 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 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 0 7 182_182 -82 374 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 0 7 184_184 -82 374 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 0 7 361_361 -82 374 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 0 7 446_446 -82 374 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9JK11 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 0 7 450_450 -82 374 retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9JK11 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 0 7 511_511 -82 374 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 0 7 749_749 -82 374 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 0 7 858_858 -82 374 retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9JK11 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 0 7 881_881 -82 374 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 0 7 991_991 -82 374 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 0 7 1104_1104 -82 374 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 0 7 1_993 -82 374 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 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 0 7 1_206 -82 374 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 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 0 7 58_289 -82 374 retained Alternative sequence ID=VSP_005654;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.9 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 0 7 186_1004 -82 374 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 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 0 7 205_1004 -82 374 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 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 0 7 994_1004 -82 374 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 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 0 7 357_357 -82 374 retained Natural variant ID=VAR_053633;Note=D->V;Dbxref=dbSNP:rs11677099 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 0 7 429_429 -82 374 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 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 0 7 899_899 -82 374 retained Natural variant ID=VAR_053634;Note=E->Q;Dbxref=dbSNP:rs6757519 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 0 7 920_920 -82 374 retained Natural variant ID=VAR_053635;Note=S->C;Dbxref=dbSNP:rs6757705 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 0 7 107_107 -82 374 retained Sequence conflict Note=S->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 0 7 135_135 -82 374 retained Sequence conflict Note=E->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 0 7 458_458 -82 374 retained Sequence conflict Note=S->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 0 7 564_564 -82 374 retained Sequence conflict Note=N->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 0 7 1059_1062 -82 374 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G31 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 0 7 1063_1070 -82 374 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G31 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 0 7 1074_1094 -82 374 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G31 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 0 7 1095_1097 -82 374 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G31 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000317610 Q9NQC3 - 0 7 1100_1107 -82 374 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G31 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 0 8 1_1192 -82 393 retained Chain ID=PRO_0000168165;Note=Reticulon-4 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 0 8 1_1018 -82 393 retained Topological domain Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 0 8 1019_1039 -82 393 retained Transmembrane Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 0 8 1040_1133 -82 393 retained Topological domain Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 0 8 1134_1154 -82 393 retained Transmembrane Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 0 8 1155_1192 -82 393 retained Topological domain Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 0 8 1005_1192 -82 393 retained Domain Note=Reticulon;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00170 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 0 8 30_47 -82 393 retained Compositional bias Note=Poly-Glu Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 0 8 143_148 -82 393 retained Compositional bias Note=Poly-Pro Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 0 8 1_1 -82 393 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 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 0 8 7_7 -82 393 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 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 0 8 15_15 -82 393 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 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 0 8 107_107 -82 393 retained Sequence conflict Note=S->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 0 8 152_152 -82 393 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 0 8 181_181 -82 393 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 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 0 8 182_182 -82 393 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 0 8 184_184 -82 393 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 0 8 361_361 -82 393 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 0 8 446_446 -82 393 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9JK11 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 0 8 450_450 -82 393 retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9JK11 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 0 8 511_511 -82 393 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 0 8 749_749 -82 393 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 0 8 858_858 -82 393 retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9JK11 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 0 8 881_881 -82 393 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 0 8 991_991 -82 393 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 0 8 1104_1104 -82 393 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 0 8 1_993 -82 393 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 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 0 8 1_206 -82 393 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 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 0 8 58_289 -82 393 retained Alternative sequence ID=VSP_005654;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.9 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 0 8 186_1004 -82 393 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 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 0 8 205_1004 -82 393 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 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 0 8 994_1004 -82 393 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 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 0 8 357_357 -82 393 retained Natural variant ID=VAR_053633;Note=D->V;Dbxref=dbSNP:rs11677099 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 0 8 429_429 -82 393 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 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 0 8 899_899 -82 393 retained Natural variant ID=VAR_053634;Note=E->Q;Dbxref=dbSNP:rs6757519 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 0 8 920_920 -82 393 retained Natural variant ID=VAR_053635;Note=S->C;Dbxref=dbSNP:rs6757705 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 0 8 107_107 -82 393 retained Sequence conflict Note=S->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 0 8 135_135 -82 393 retained Sequence conflict Note=E->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 0 8 458_458 -82 393 retained Sequence conflict Note=S->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 0 8 564_564 -82 393 retained Sequence conflict Note=N->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 0 8 1059_1062 -82 393 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G31 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 0 8 1063_1070 -82 393 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G31 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 0 8 1074_1094 -82 393 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G31 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 0 8 1095_1097 -82 393 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G31 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000357732 Q9NQC3 - 0 8 1100_1107 -82 393 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G31 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 0 9 1_1192 -82 1193 retained Chain ID=PRO_0000168165;Note=Reticulon-4 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 0 9 1_1018 -82 1193 retained Topological domain Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 0 9 1019_1039 -82 1193 retained Transmembrane Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 0 9 1040_1133 -82 1193 retained Topological domain Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 0 9 1134_1154 -82 1193 retained Transmembrane Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 0 9 1155_1192 -82 1193 retained Topological domain Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 0 9 1005_1192 -82 1193 retained Domain Note=Reticulon;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00170 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 0 9 30_47 -82 1193 retained Compositional bias Note=Poly-Glu Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 0 9 143_148 -82 1193 retained Compositional bias Note=Poly-Pro Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 0 9 1_1 -82 1193 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 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 0 9 7_7 -82 1193 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 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 0 9 15_15 -82 1193 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 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 0 9 107_107 -82 1193 retained Sequence conflict Note=S->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 0 9 152_152 -82 1193 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 0 9 181_181 -82 1193 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 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 0 9 182_182 -82 1193 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 0 9 184_184 -82 1193 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 0 9 361_361 -82 1193 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 0 9 446_446 -82 1193 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9JK11 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 0 9 450_450 -82 1193 retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9JK11 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 0 9 511_511 -82 1193 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 0 9 749_749 -82 1193 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 0 9 858_858 -82 1193 retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9JK11 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 0 9 881_881 -82 1193 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 0 9 991_991 -82 1193 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 0 9 1104_1104 -82 1193 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 0 9 1_993 -82 1193 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 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 0 9 1_206 -82 1193 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 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 0 9 58_289 -82 1193 retained Alternative sequence ID=VSP_005654;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.9 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 0 9 186_1004 -82 1193 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 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 0 9 205_1004 -82 1193 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 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 0 9 994_1004 -82 1193 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 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 0 9 357_357 -82 1193 retained Natural variant ID=VAR_053633;Note=D->V;Dbxref=dbSNP:rs11677099 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 0 9 429_429 -82 1193 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 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 0 9 899_899 -82 1193 retained Natural variant ID=VAR_053634;Note=E->Q;Dbxref=dbSNP:rs6757519 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 0 9 920_920 -82 1193 retained Natural variant ID=VAR_053635;Note=S->C;Dbxref=dbSNP:rs6757705 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 0 9 107_107 -82 1193 retained Sequence conflict Note=S->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 0 9 135_135 -82 1193 retained Sequence conflict Note=E->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 0 9 458_458 -82 1193 retained Sequence conflict Note=S->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 0 9 564_564 -82 1193 retained Sequence conflict Note=N->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 0 9 1059_1062 -82 1193 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G31 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 0 9 1063_1070 -82 1193 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G31 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 0 9 1074_1094 -82 1193 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G31 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 0 9 1095_1097 -82 1193 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G31 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000337526 Q9NQC3 - 0 9 1100_1107 -82 1193 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G31 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 0 9 1_1192 -78 987 retained Chain ID=PRO_0000168165;Note=Reticulon-4 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 0 9 1_1018 -78 987 retained Topological domain Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 0 9 1019_1039 -78 987 retained Transmembrane Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 0 9 1040_1133 -78 987 retained Topological domain Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 0 9 1134_1154 -78 987 retained Transmembrane Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 0 9 1155_1192 -78 987 retained Topological domain Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 0 9 1005_1192 -78 987 retained Domain Note=Reticulon;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00170 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 0 9 30_47 -78 987 retained Compositional bias Note=Poly-Glu Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 0 9 143_148 -78 987 retained Compositional bias Note=Poly-Pro Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 0 9 1_1 -78 987 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 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 0 9 7_7 -78 987 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 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 0 9 15_15 -78 987 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 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 0 9 107_107 -78 987 retained Sequence conflict Note=S->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 0 9 152_152 -78 987 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 0 9 181_181 -78 987 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 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 0 9 182_182 -78 987 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 0 9 184_184 -78 987 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 0 9 361_361 -78 987 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 0 9 446_446 -78 987 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9JK11 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 0 9 450_450 -78 987 retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9JK11 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 0 9 511_511 -78 987 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 0 9 749_749 -78 987 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 0 9 858_858 -78 987 retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9JK11 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 0 9 881_881 -78 987 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 0 9 991_991 -78 987 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 0 9 1104_1104 -78 987 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 0 9 1_993 -78 987 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 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 0 9 1_206 -78 987 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 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 0 9 58_289 -78 987 retained Alternative sequence ID=VSP_005654;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.9 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 0 9 186_1004 -78 987 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 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 0 9 205_1004 -78 987 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 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 0 9 994_1004 -78 987 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 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 0 9 357_357 -78 987 retained Natural variant ID=VAR_053633;Note=D->V;Dbxref=dbSNP:rs11677099 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 0 9 429_429 -78 987 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 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 0 9 899_899 -78 987 retained Natural variant ID=VAR_053634;Note=E->Q;Dbxref=dbSNP:rs6757519 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 0 9 920_920 -78 987 retained Natural variant ID=VAR_053635;Note=S->C;Dbxref=dbSNP:rs6757705 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 0 9 107_107 -78 987 retained Sequence conflict Note=S->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 0 9 135_135 -78 987 retained Sequence conflict Note=E->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 0 9 458_458 -78 987 retained Sequence conflict Note=S->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 0 9 564_564 -78 987 retained Sequence conflict Note=N->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 0 9 1059_1062 -78 987 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G31 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 0 9 1063_1070 -78 987 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G31 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 0 9 1074_1094 -78 987 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G31 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 0 9 1095_1097 -78 987 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G31 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000394611 Q9NQC3 - 0 9 1100_1107 -78 987 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G31 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 0 9 1_1192 -58 987 retained Chain ID=PRO_0000168165;Note=Reticulon-4 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 0 9 1_1018 -58 987 retained Topological domain Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 0 9 1019_1039 -58 987 retained Transmembrane Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 0 9 1040_1133 -58 987 retained Topological domain Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 0 9 1134_1154 -58 987 retained Transmembrane Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 0 9 1155_1192 -58 987 retained Topological domain Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 0 9 1005_1192 -58 987 retained Domain Note=Reticulon;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00170 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 0 9 30_47 -58 987 retained Compositional bias Note=Poly-Glu Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 0 9 143_148 -58 987 retained Compositional bias Note=Poly-Pro Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 0 9 1_1 -58 987 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 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 0 9 7_7 -58 987 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 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 0 9 15_15 -58 987 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 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 0 9 107_107 -58 987 retained Sequence conflict Note=S->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 0 9 152_152 -58 987 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 0 9 181_181 -58 987 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 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 0 9 182_182 -58 987 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 0 9 184_184 -58 987 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 0 9 361_361 -58 987 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 0 9 446_446 -58 987 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9JK11 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 0 9 450_450 -58 987 retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9JK11 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 0 9 511_511 -58 987 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 0 9 749_749 -58 987 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 0 9 858_858 -58 987 retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9JK11 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 0 9 881_881 -58 987 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99P72 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 0 9 991_991 -58 987 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 0 9 1104_1104 -58 987 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 0 9 1_993 -58 987 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 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 0 9 1_206 -58 987 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 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 0 9 58_289 -58 987 retained Alternative sequence ID=VSP_005654;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.9 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 0 9 186_1004 -58 987 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 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 0 9 205_1004 -58 987 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 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 0 9 994_1004 -58 987 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 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 0 9 357_357 -58 987 retained Natural variant ID=VAR_053633;Note=D->V;Dbxref=dbSNP:rs11677099 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 0 9 429_429 -58 987 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 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 0 9 899_899 -58 987 retained Natural variant ID=VAR_053634;Note=E->Q;Dbxref=dbSNP:rs6757519 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 0 9 920_920 -58 987 retained Natural variant ID=VAR_053635;Note=S->C;Dbxref=dbSNP:rs6757705 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 0 9 107_107 -58 987 retained Sequence conflict Note=S->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 0 9 135_135 -58 987 retained Sequence conflict Note=E->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 0 9 458_458 -58 987 retained Sequence conflict Note=S->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 0 9 564_564 -58 987 retained Sequence conflict Note=N->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 0 9 1059_1062 -58 987 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G31 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 0 9 1063_1070 -58 987 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G31 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 0 9 1074_1094 -58 987 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G31 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 0 9 1095_1097 -58 987 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G31 Tgene intron-intron BP251731 ChiTaRS RTN4 chr2:55209673 RTN4 chr2:55253743 ENST00000404909 Q9NQC3 - 0 9 1100_1107 -58 987 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2G31 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1_3969 144 3973 not_retained Chain ID=PRO_0000124876;Note=Histone-lysine N-methyltransferase 2A Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1_2718 144 3973 not_retained Chain ID=PRO_0000390949;Note=MLL cleavage product N320 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 2719_3969 144 3973 retained Chain ID=PRO_0000390950;Note=MLL cleavage product C180 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1703_1748 144 3973 retained Domain Note=Bromo%3B divergent;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00035 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 2018_2074 144 3973 retained Domain Note=FYR N-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00875 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 3666_3747 144 3973 retained Domain Note=FYR C-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00876 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 3829_3945 144 3973 retained Domain Note=SET;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00190 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 3953_3969 144 3973 retained Domain Note=Post-SET;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00155 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 169_180 144 3973 retained DNA binding Note=A.T hook 1 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 217_227 144 3973 retained DNA binding Note=A.T hook 2 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 301_309 144 3973 retained DNA binding Note=A.T hook 3 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1147_1195 144 3973 retained Zinc finger Note=CXXC-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00509 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1431_1482 144 3973 retained Zinc finger Note=PHD-type 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00146 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1479_1533 144 3973 retained Zinc finger Note=PHD-type 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00146 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1566_1627 144 3973 retained Zinc finger Note=PHD-type 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00146 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1870_1910 144 3973 retained Zinc finger Note=C2HC pre-PHD-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01146 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1931_1978 144 3973 retained Zinc finger Note=PHD-type 4;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01146 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1584_1600 144 3973 retained Region Note=Interaction with histone H3K4me3;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20677832;Dbxref=PMID:20677832 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 3764_3771 144 3973 retained Region Note=Interaction with WDR5;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18829459;Dbxref=PMID:18829459 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 3906_3907 144 3973 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 2847_2855 144 3973 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5SVH Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 17_102 144 3973 not_retained Compositional bias Note=Ala/Gly/Ser-rich Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 137_143 144 3973 not_retained Compositional bias Note=Poly-Gly Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 561_564 144 3973 retained Compositional bias Note=Poly-Pro Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 568_571 144 3973 retained Compositional bias Note=Poly-Pro Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 3909_3909 144 3973 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 3957_3957 144 3973 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 3959_3959 144 3973 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 3964_3964 144 3973 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 3839_3839 144 3973 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 3841_3841 144 3973 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 3883_3883 144 3973 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 3958_3958 144 3973 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1334_1335 144 3973 retained Site Note=Breakpoint for translocation to form KMT2A-ZFYVE19 oncogene Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1362_1363 144 3973 retained Site Note=Breakpoint for translocation to form KMT2A-CENPK oncogene Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1362_1363 144 3973 retained Site Note=Breakpoint for translocation to form KMT2A-CENPK oncogene Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1362_1362 144 3973 retained Site Note=Breakpoint for translocation to form KMT2A-FRYL fusion protein Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1406_1407 144 3973 retained Site Note=Breakpoint for translocation to form KMT2A-AFF4 fusion protein Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1444_1445 144 3973 retained Site Note=Breakpoint for translocation to form KMT2A-LPP Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1444_1445 144 3973 retained Site Note=Breakpoint for translocation to form KMT2A-LPP Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 2666_2667 144 3973 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 2718_2719 144 3973 retained Site Note=Cleavage%3B by TASP1%2C site 2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14636557;Dbxref=PMID:14636557 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 3765_3765 144 3973 retained Site Note=Important for WDR5-recognition and binding;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19556245;Dbxref=PMID:19556245 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 153_153 144 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 197_197 144 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 239_239 144 3973 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P55200 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 373_373 144 3973 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P55200 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 518_518 144 3973 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 636_636 144 3973 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 680_680 144 3973 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 840_840 144 3973 retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 926_926 144 3973 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:20068231;Dbxref=PMID:20068231 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1056_1056 144 3973 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1130_1130 144 3973 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1235_1235 144 3973 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1837_1837 144 3973 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1845_1845 144 3973 retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1858_1858 144 3973 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 2098_2098 144 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:23186163;Dbxref=PMID:18669648,PMID:19690332,PMID:23186163 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 2147_2147 144 3973 retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 2151_2151 144 3973 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 2201_2201 144 3973 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:21406692;Dbxref=PMID:21406692 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 2525_2525 144 3973 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 2611_2611 144 3973 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 2796_2796 144 3973 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 2955_2955 144 3973 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 2958_2958 144 3973 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P55200 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 3036_3036 144 3973 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 3372_3372 144 3973 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 3462_3462 144 3973 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P55200 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 3511_3511 144 3973 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 3515_3515 144 3973 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19690332;Dbxref=PMID:19690332 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 3527_3527 144 3973 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 2528_2528 144 3973 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1407_1444 144 3973 retained Alternative sequence ID=VSP_006666;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:7598802;Dbxref=PMID:7598802 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1603_1603 144 3973 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 30_30 144 3973 not_retained Natural variant ID=VAR_021317;Note=A->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8703835;Dbxref=dbSNP:rs9332745,PMID:8703835 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 53_53 144 3973 not_retained Natural variant ID=VAR_021318;Note=A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332747 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 502_502 144 3973 retained Natural variant ID=VAR_021319;Note=E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332772 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1975_1975 144 3973 retained Natural variant ID=VAR_052652;Note=Q->P;Dbxref=dbSNP:rs693598 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 2319_2319 144 3973 retained Natural variant ID=VAR_021320;Note=S->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332837 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 2354_2354 144 3973 retained Natural variant ID=VAR_021321;Note=P->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332838 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 2387_2387 144 3973 retained Natural variant ID=VAR_021322;Note=Q->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332839 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 3714_3714 144 3973 retained Natural variant ID=VAR_021323;Note=V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332859 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 3773_3773 144 3973 retained Natural variant ID=VAR_021324;Note=S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332861 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1150_1150 144 3973 retained Mutagenesis Note=Impairs DNA-binding. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20010842;Dbxref=PMID:20010842 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1151_1151 144 3973 retained Mutagenesis Note=Impairs DNA-binding. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1153_1153 144 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1154_1154 144 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1155_1155 144 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1158_1158 144 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1161_1161 144 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1162_1162 144 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1166_1166 144 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1167_1167 144 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1170_1170 144 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1172_1172 144 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1173_1173 144 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1175_1175 144 3973 retained Mutagenesis Note=Impairs DNA-binding. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1176_1176 144 3973 retained Mutagenesis Note=Impairs DNA-binding. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1178_1181 144 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1178_1178 144 3973 retained Mutagenesis Note=Impairs DNA-binding. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1179_1179 144 3973 retained Mutagenesis Note=Impairs DNA-binding. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1183_1183 144 3973 retained Mutagenesis Note=Impairs DNA-binding. N->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1185_1185 144 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1186_1186 144 3973 retained Mutagenesis Note=Impairs DNA-binding. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1187_1187 144 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1188_1188 144 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1188_1188 144 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1189_1189 144 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1192_1192 144 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1193_1193 144 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1194_1194 144 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1195_1195 144 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1196_1196 144 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1197_1197 144 3973 retained Mutagenesis Note=Mildly decreases DNA-binding. L->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20010842;Dbxref=PMID:20010842 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1200_1200 144 3973 retained Mutagenesis Note=No effect on DNA-binding. M->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20010842;Dbxref=PMID:20010842 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1581_1581 144 3973 retained Mutagenesis Note=Decreases affinity for histone H3K4me3. Y->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20541251;Dbxref=PMID:20541251 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1587_1587 144 3973 retained Mutagenesis Note=Decreases affinity for histone H3K4me3. Q->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20541251;Dbxref=PMID:20541251 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1594_1594 144 3973 retained Mutagenesis Note=Decreases affinity for histone H3K4me3. W->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20541251;Dbxref=PMID:20541251 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1594_1594 144 3973 retained Mutagenesis Note=Decreases affinity for histone H3K4me3. W->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20541251;Dbxref=PMID:20541251 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1617_1617 144 3973 retained Mutagenesis Note=Decreases binding affinity for PPIE. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20677832;Dbxref=PMID:20677832 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1619_1619 144 3973 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 2666_2667 144 3973 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 2718_2720 144 3973 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 3858_3858 144 3973 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 3858_3858 144 3973 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 3861_3861 144 3973 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 3861_3861 144 3973 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 3864_3864 144 3973 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 3867_3867 144 3973 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 3867_3867 144 3973 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 3867_3867 144 3973 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 3869_3869 144 3973 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 3871_3871 144 3973 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 3872_3872 144 3973 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 3874_3874 144 3973 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 3878_3878 144 3973 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 3906_3906 144 3973 retained Mutagenesis Note=Loss of the histone H3 methyltransferase activity. N->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19556245;Dbxref=PMID:19556245 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 3942_3942 144 3973 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 3942_3942 144 3973 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 144_144 144 3973 retained Sequence conflict Note=E->ELTTQIPCSWRTKGHIHDKKTEPFRLLAWSWCLN;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 556_556 144 3973 retained Sequence conflict Note=Q->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 556_556 144 3973 retained Sequence conflict Note=Q->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1347_1347 144 3973 retained Sequence conflict Note=V->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1487_1487 144 3973 retained Sequence conflict Note=R->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1490_1490 144 3973 retained Sequence conflict Note=Q->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1507_1507 144 3973 retained Sequence conflict Note=P->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1513_1513 144 3973 retained Sequence conflict Note=N->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1600_1600 144 3973 retained Sequence conflict Note=E->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1616_1616 144 3973 retained Sequence conflict Note=S->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1937_1937 144 3973 retained Sequence conflict Note=Q->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 2181_2181 144 3973 retained Sequence conflict Note=P->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 3556_3556 144 3973 retained Sequence conflict Note=K->N;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 3718_3718 144 3973 retained Sequence conflict Note=R->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 3759_3759 144 3973 retained Sequence conflict Note=N->D;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 3813_3813 144 3973 retained Sequence conflict Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 3901_3901 144 3973 retained Sequence conflict Note=A->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 114_133 144 3973 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3U88 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 135_138 144 3973 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MTN Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 150_152 144 3973 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MSR Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1151_1154 144 3973 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2J2S Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1156_1158 144 3973 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NW3 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1159_1162 144 3973 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NW3 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1168_1170 144 3973 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NW3 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1171_1175 144 3973 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NW3 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1177_1179 144 3973 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NW3 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1183_1185 144 3973 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2J2S Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1190_1192 144 3973 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NW3 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1197_1200 144 3973 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2J2S Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1204_1206 144 3973 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2J2S Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1566_1568 144 3973 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQI Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1570_1572 144 3973 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1575_1577 144 3973 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQI Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1578_1582 144 3973 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2KYU Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1585_1587 144 3973 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1589_1591 144 3973 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1594_1596 144 3973 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1597_1599 144 3973 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1604_1612 144 3973 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1614_1617 144 3973 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1622_1624 144 3973 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1627_1629 144 3973 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1631_1652 144 3973 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1655_1661 144 3973 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1708_1716 144 3973 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1723_1740 144 3973 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1745_1765 144 3973 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 1771_1773 144 3973 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 2847_2855 144 3973 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5SVH Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 3764_3766 144 3973 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4ESG Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 3796_3799 144 3973 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2W5Y Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 3809_3811 144 3973 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2W5Y Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 3816_3820 144 3973 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 3823_3830 144 3973 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 3831_3835 144 3973 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 3837_3847 144 3973 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 3854_3857 144 3973 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 3860_3864 144 3973 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 3865_3867 144 3973 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 3868_3877 144 3973 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 3884_3886 144 3973 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 3888_3894 144 3973 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 3896_3898 144 3973 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 3901_3904 144 3973 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 3912_3920 144 3973 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 3923_3932 144 3973 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000534358 Q03164 + 0 36 3939_3942 144 3973 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1_3969 144 3970 not_retained Chain ID=PRO_0000124876;Note=Histone-lysine N-methyltransferase 2A Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1_2718 144 3970 not_retained Chain ID=PRO_0000390949;Note=MLL cleavage product N320 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 2719_3969 144 3970 retained Chain ID=PRO_0000390950;Note=MLL cleavage product C180 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1703_1748 144 3970 retained Domain Note=Bromo%3B divergent;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00035 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 2018_2074 144 3970 retained Domain Note=FYR N-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00875 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 3666_3747 144 3970 retained Domain Note=FYR C-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00876 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 3829_3945 144 3970 retained Domain Note=SET;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00190 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 3953_3969 144 3970 retained Domain Note=Post-SET;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00155 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 169_180 144 3970 retained DNA binding Note=A.T hook 1 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 217_227 144 3970 retained DNA binding Note=A.T hook 2 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 301_309 144 3970 retained DNA binding Note=A.T hook 3 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1147_1195 144 3970 retained Zinc finger Note=CXXC-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00509 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1431_1482 144 3970 retained Zinc finger Note=PHD-type 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00146 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1479_1533 144 3970 retained Zinc finger Note=PHD-type 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00146 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1566_1627 144 3970 retained Zinc finger Note=PHD-type 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00146 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1870_1910 144 3970 retained Zinc finger Note=C2HC pre-PHD-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01146 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1931_1978 144 3970 retained Zinc finger Note=PHD-type 4;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01146 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1584_1600 144 3970 retained Region Note=Interaction with histone H3K4me3;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20677832;Dbxref=PMID:20677832 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 3764_3771 144 3970 retained Region Note=Interaction with WDR5;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18829459;Dbxref=PMID:18829459 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 3906_3907 144 3970 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 2847_2855 144 3970 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5SVH Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 17_102 144 3970 not_retained Compositional bias Note=Ala/Gly/Ser-rich Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 137_143 144 3970 not_retained Compositional bias Note=Poly-Gly Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 561_564 144 3970 retained Compositional bias Note=Poly-Pro Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 568_571 144 3970 retained Compositional bias Note=Poly-Pro Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 3909_3909 144 3970 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 3957_3957 144 3970 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 3959_3959 144 3970 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 3964_3964 144 3970 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 3839_3839 144 3970 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 3841_3841 144 3970 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 3883_3883 144 3970 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 3958_3958 144 3970 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1334_1335 144 3970 retained Site Note=Breakpoint for translocation to form KMT2A-ZFYVE19 oncogene Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1362_1363 144 3970 retained Site Note=Breakpoint for translocation to form KMT2A-CENPK oncogene Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1362_1363 144 3970 retained Site Note=Breakpoint for translocation to form KMT2A-CENPK oncogene Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1362_1362 144 3970 retained Site Note=Breakpoint for translocation to form KMT2A-FRYL fusion protein Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1406_1407 144 3970 retained Site Note=Breakpoint for translocation to form KMT2A-AFF4 fusion protein Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1444_1445 144 3970 retained Site Note=Breakpoint for translocation to form KMT2A-LPP Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1444_1445 144 3970 retained Site Note=Breakpoint for translocation to form KMT2A-LPP Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 2666_2667 144 3970 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 2718_2719 144 3970 retained Site Note=Cleavage%3B by TASP1%2C site 2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14636557;Dbxref=PMID:14636557 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 3765_3765 144 3970 retained Site Note=Important for WDR5-recognition and binding;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19556245;Dbxref=PMID:19556245 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 153_153 144 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 197_197 144 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 239_239 144 3970 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P55200 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 373_373 144 3970 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P55200 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 518_518 144 3970 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 636_636 144 3970 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 680_680 144 3970 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 840_840 144 3970 retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 926_926 144 3970 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:20068231;Dbxref=PMID:20068231 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1056_1056 144 3970 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1130_1130 144 3970 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1235_1235 144 3970 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1837_1837 144 3970 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1845_1845 144 3970 retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1858_1858 144 3970 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 2098_2098 144 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:23186163;Dbxref=PMID:18669648,PMID:19690332,PMID:23186163 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 2147_2147 144 3970 retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 2151_2151 144 3970 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 2201_2201 144 3970 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:21406692;Dbxref=PMID:21406692 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 2525_2525 144 3970 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 2611_2611 144 3970 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 2796_2796 144 3970 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 2955_2955 144 3970 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 2958_2958 144 3970 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P55200 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 3036_3036 144 3970 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 3372_3372 144 3970 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 3462_3462 144 3970 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P55200 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 3511_3511 144 3970 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 3515_3515 144 3970 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19690332;Dbxref=PMID:19690332 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 3527_3527 144 3970 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 2528_2528 144 3970 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1407_1444 144 3970 retained Alternative sequence ID=VSP_006666;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:7598802;Dbxref=PMID:7598802 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1603_1603 144 3970 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 30_30 144 3970 not_retained Natural variant ID=VAR_021317;Note=A->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8703835;Dbxref=dbSNP:rs9332745,PMID:8703835 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 53_53 144 3970 not_retained Natural variant ID=VAR_021318;Note=A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332747 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 502_502 144 3970 retained Natural variant ID=VAR_021319;Note=E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332772 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1975_1975 144 3970 retained Natural variant ID=VAR_052652;Note=Q->P;Dbxref=dbSNP:rs693598 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 2319_2319 144 3970 retained Natural variant ID=VAR_021320;Note=S->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332837 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 2354_2354 144 3970 retained Natural variant ID=VAR_021321;Note=P->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332838 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 2387_2387 144 3970 retained Natural variant ID=VAR_021322;Note=Q->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332839 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 3714_3714 144 3970 retained Natural variant ID=VAR_021323;Note=V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332859 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 3773_3773 144 3970 retained Natural variant ID=VAR_021324;Note=S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332861 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1150_1150 144 3970 retained Mutagenesis Note=Impairs DNA-binding. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20010842;Dbxref=PMID:20010842 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1151_1151 144 3970 retained Mutagenesis Note=Impairs DNA-binding. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1153_1153 144 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1154_1154 144 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1155_1155 144 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1158_1158 144 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1161_1161 144 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1162_1162 144 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1166_1166 144 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1167_1167 144 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1170_1170 144 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1172_1172 144 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1173_1173 144 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1175_1175 144 3970 retained Mutagenesis Note=Impairs DNA-binding. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1176_1176 144 3970 retained Mutagenesis Note=Impairs DNA-binding. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1178_1181 144 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1178_1178 144 3970 retained Mutagenesis Note=Impairs DNA-binding. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1179_1179 144 3970 retained Mutagenesis Note=Impairs DNA-binding. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1183_1183 144 3970 retained Mutagenesis Note=Impairs DNA-binding. N->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1185_1185 144 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1186_1186 144 3970 retained Mutagenesis Note=Impairs DNA-binding. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1187_1187 144 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1188_1188 144 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1188_1188 144 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1189_1189 144 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1192_1192 144 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1193_1193 144 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1194_1194 144 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1195_1195 144 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1196_1196 144 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1197_1197 144 3970 retained Mutagenesis Note=Mildly decreases DNA-binding. L->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20010842;Dbxref=PMID:20010842 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1200_1200 144 3970 retained Mutagenesis Note=No effect on DNA-binding. M->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20010842;Dbxref=PMID:20010842 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1581_1581 144 3970 retained Mutagenesis Note=Decreases affinity for histone H3K4me3. Y->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20541251;Dbxref=PMID:20541251 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1587_1587 144 3970 retained Mutagenesis Note=Decreases affinity for histone H3K4me3. Q->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20541251;Dbxref=PMID:20541251 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1594_1594 144 3970 retained Mutagenesis Note=Decreases affinity for histone H3K4me3. W->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20541251;Dbxref=PMID:20541251 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1594_1594 144 3970 retained Mutagenesis Note=Decreases affinity for histone H3K4me3. W->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20541251;Dbxref=PMID:20541251 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1617_1617 144 3970 retained Mutagenesis Note=Decreases binding affinity for PPIE. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20677832;Dbxref=PMID:20677832 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1619_1619 144 3970 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 2666_2667 144 3970 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 2718_2720 144 3970 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 3858_3858 144 3970 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 3858_3858 144 3970 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 3861_3861 144 3970 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 3861_3861 144 3970 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 3864_3864 144 3970 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 3867_3867 144 3970 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 3867_3867 144 3970 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 3867_3867 144 3970 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 3869_3869 144 3970 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 3871_3871 144 3970 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 3872_3872 144 3970 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 3874_3874 144 3970 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 3878_3878 144 3970 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 3906_3906 144 3970 retained Mutagenesis Note=Loss of the histone H3 methyltransferase activity. N->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19556245;Dbxref=PMID:19556245 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 3942_3942 144 3970 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 3942_3942 144 3970 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 144_144 144 3970 retained Sequence conflict Note=E->ELTTQIPCSWRTKGHIHDKKTEPFRLLAWSWCLN;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 556_556 144 3970 retained Sequence conflict Note=Q->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 556_556 144 3970 retained Sequence conflict Note=Q->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1347_1347 144 3970 retained Sequence conflict Note=V->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1487_1487 144 3970 retained Sequence conflict Note=R->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1490_1490 144 3970 retained Sequence conflict Note=Q->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1507_1507 144 3970 retained Sequence conflict Note=P->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1513_1513 144 3970 retained Sequence conflict Note=N->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1600_1600 144 3970 retained Sequence conflict Note=E->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1616_1616 144 3970 retained Sequence conflict Note=S->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1937_1937 144 3970 retained Sequence conflict Note=Q->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 2181_2181 144 3970 retained Sequence conflict Note=P->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 3556_3556 144 3970 retained Sequence conflict Note=K->N;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 3718_3718 144 3970 retained Sequence conflict Note=R->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 3759_3759 144 3970 retained Sequence conflict Note=N->D;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 3813_3813 144 3970 retained Sequence conflict Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 3901_3901 144 3970 retained Sequence conflict Note=A->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 114_133 144 3970 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3U88 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 135_138 144 3970 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MTN Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 150_152 144 3970 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MSR Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1151_1154 144 3970 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2J2S Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1156_1158 144 3970 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NW3 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1159_1162 144 3970 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NW3 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1168_1170 144 3970 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NW3 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1171_1175 144 3970 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NW3 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1177_1179 144 3970 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NW3 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1183_1185 144 3970 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2J2S Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1190_1192 144 3970 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NW3 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1197_1200 144 3970 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2J2S Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1204_1206 144 3970 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2J2S Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1566_1568 144 3970 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQI Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1570_1572 144 3970 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1575_1577 144 3970 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQI Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1578_1582 144 3970 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2KYU Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1585_1587 144 3970 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1589_1591 144 3970 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1594_1596 144 3970 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1597_1599 144 3970 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1604_1612 144 3970 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1614_1617 144 3970 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1622_1624 144 3970 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1627_1629 144 3970 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1631_1652 144 3970 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1655_1661 144 3970 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1708_1716 144 3970 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1723_1740 144 3970 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1745_1765 144 3970 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 1771_1773 144 3970 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 2847_2855 144 3970 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5SVH Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 3764_3766 144 3970 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4ESG Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 3796_3799 144 3970 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2W5Y Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 3809_3811 144 3970 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2W5Y Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 3816_3820 144 3970 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 3823_3830 144 3970 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 3831_3835 144 3970 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 3837_3847 144 3970 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 3854_3857 144 3970 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 3860_3864 144 3970 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 3865_3867 144 3970 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 3868_3877 144 3970 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 3884_3886 144 3970 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 3888_3894 144 3970 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 3896_3898 144 3970 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 3901_3904 144 3970 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 3912_3920 144 3970 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 3923_3932 144 3970 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000389506 Q03164 + 0 36 3939_3942 144 3970 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1_3969 144 3932 not_retained Chain ID=PRO_0000124876;Note=Histone-lysine N-methyltransferase 2A Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1_2718 144 3932 not_retained Chain ID=PRO_0000390949;Note=MLL cleavage product N320 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 2719_3969 144 3932 retained Chain ID=PRO_0000390950;Note=MLL cleavage product C180 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1703_1748 144 3932 retained Domain Note=Bromo%3B divergent;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00035 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 2018_2074 144 3932 retained Domain Note=FYR N-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00875 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 3666_3747 144 3932 retained Domain Note=FYR C-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00876 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 3829_3945 144 3932 retained Domain Note=SET;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00190 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 3953_3969 144 3932 retained Domain Note=Post-SET;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00155 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 169_180 144 3932 retained DNA binding Note=A.T hook 1 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 217_227 144 3932 retained DNA binding Note=A.T hook 2 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 301_309 144 3932 retained DNA binding Note=A.T hook 3 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1147_1195 144 3932 retained Zinc finger Note=CXXC-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00509 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1431_1482 144 3932 retained Zinc finger Note=PHD-type 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00146 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1479_1533 144 3932 retained Zinc finger Note=PHD-type 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00146 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1566_1627 144 3932 retained Zinc finger Note=PHD-type 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00146 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1870_1910 144 3932 retained Zinc finger Note=C2HC pre-PHD-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01146 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1931_1978 144 3932 retained Zinc finger Note=PHD-type 4;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01146 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1584_1600 144 3932 retained Region Note=Interaction with histone H3K4me3;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20677832;Dbxref=PMID:20677832 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 3764_3771 144 3932 retained Region Note=Interaction with WDR5;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18829459;Dbxref=PMID:18829459 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 3906_3907 144 3932 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 2847_2855 144 3932 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5SVH Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 17_102 144 3932 not_retained Compositional bias Note=Ala/Gly/Ser-rich Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 137_143 144 3932 not_retained Compositional bias Note=Poly-Gly Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 561_564 144 3932 retained Compositional bias Note=Poly-Pro Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 568_571 144 3932 retained Compositional bias Note=Poly-Pro Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 3909_3909 144 3932 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 3957_3957 144 3932 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 3959_3959 144 3932 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 3964_3964 144 3932 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 3839_3839 144 3932 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 3841_3841 144 3932 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 3883_3883 144 3932 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 3958_3958 144 3932 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1334_1335 144 3932 retained Site Note=Breakpoint for translocation to form KMT2A-ZFYVE19 oncogene Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1362_1363 144 3932 retained Site Note=Breakpoint for translocation to form KMT2A-CENPK oncogene Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1362_1363 144 3932 retained Site Note=Breakpoint for translocation to form KMT2A-CENPK oncogene Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1362_1362 144 3932 retained Site Note=Breakpoint for translocation to form KMT2A-FRYL fusion protein Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1406_1407 144 3932 retained Site Note=Breakpoint for translocation to form KMT2A-AFF4 fusion protein Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1444_1445 144 3932 retained Site Note=Breakpoint for translocation to form KMT2A-LPP Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1444_1445 144 3932 retained Site Note=Breakpoint for translocation to form KMT2A-LPP Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 2666_2667 144 3932 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 2718_2719 144 3932 retained Site Note=Cleavage%3B by TASP1%2C site 2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14636557;Dbxref=PMID:14636557 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 3765_3765 144 3932 retained Site Note=Important for WDR5-recognition and binding;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19556245;Dbxref=PMID:19556245 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 153_153 144 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 197_197 144 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 239_239 144 3932 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P55200 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 373_373 144 3932 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P55200 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 518_518 144 3932 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 636_636 144 3932 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 680_680 144 3932 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 840_840 144 3932 retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 926_926 144 3932 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:20068231;Dbxref=PMID:20068231 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1056_1056 144 3932 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1130_1130 144 3932 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1235_1235 144 3932 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1837_1837 144 3932 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1845_1845 144 3932 retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1858_1858 144 3932 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 2098_2098 144 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:23186163;Dbxref=PMID:18669648,PMID:19690332,PMID:23186163 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 2147_2147 144 3932 retained Modified residue Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 2151_2151 144 3932 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 2201_2201 144 3932 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:21406692;Dbxref=PMID:21406692 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 2525_2525 144 3932 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 2611_2611 144 3932 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 2796_2796 144 3932 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 2955_2955 144 3932 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 2958_2958 144 3932 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P55200 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 3036_3036 144 3932 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 3372_3372 144 3932 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 3462_3462 144 3932 retained Modified residue Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P55200 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 3511_3511 144 3932 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 3515_3515 144 3932 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19690332;Dbxref=PMID:19690332 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 3527_3527 144 3932 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 2528_2528 144 3932 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1407_1444 144 3932 retained Alternative sequence ID=VSP_006666;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:7598802;Dbxref=PMID:7598802 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1603_1603 144 3932 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 30_30 144 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 53_53 144 3932 not_retained Natural variant ID=VAR_021318;Note=A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332747 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 502_502 144 3932 retained Natural variant ID=VAR_021319;Note=E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332772 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1975_1975 144 3932 retained Natural variant ID=VAR_052652;Note=Q->P;Dbxref=dbSNP:rs693598 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 2319_2319 144 3932 retained Natural variant ID=VAR_021320;Note=S->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332837 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 2354_2354 144 3932 retained Natural variant ID=VAR_021321;Note=P->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332838 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 2387_2387 144 3932 retained Natural variant ID=VAR_021322;Note=Q->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332839 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 3714_3714 144 3932 retained Natural variant ID=VAR_021323;Note=V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332859 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 3773_3773 144 3932 retained Natural variant ID=VAR_021324;Note=S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs9332861 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1150_1150 144 3932 retained Mutagenesis Note=Impairs DNA-binding. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20010842;Dbxref=PMID:20010842 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1151_1151 144 3932 retained Mutagenesis Note=Impairs DNA-binding. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1153_1153 144 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1154_1154 144 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1155_1155 144 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1158_1158 144 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1161_1161 144 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1162_1162 144 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1166_1166 144 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1167_1167 144 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1170_1170 144 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1172_1172 144 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1173_1173 144 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1175_1175 144 3932 retained Mutagenesis Note=Impairs DNA-binding. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1176_1176 144 3932 retained Mutagenesis Note=Impairs DNA-binding. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1178_1181 144 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1178_1178 144 3932 retained Mutagenesis Note=Impairs DNA-binding. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1179_1179 144 3932 retained Mutagenesis Note=Impairs DNA-binding. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1183_1183 144 3932 retained Mutagenesis Note=Impairs DNA-binding. N->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1185_1185 144 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1186_1186 144 3932 retained Mutagenesis Note=Impairs DNA-binding. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16990798;Dbxref=PMID:16990798 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1187_1187 144 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1188_1188 144 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1188_1188 144 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1189_1189 144 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1192_1192 144 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1193_1193 144 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1194_1194 144 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1195_1195 144 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1196_1196 144 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1197_1197 144 3932 retained Mutagenesis Note=Mildly decreases DNA-binding. L->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20010842;Dbxref=PMID:20010842 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1200_1200 144 3932 retained Mutagenesis Note=No effect on DNA-binding. M->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20010842;Dbxref=PMID:20010842 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1581_1581 144 3932 retained Mutagenesis Note=Decreases affinity for histone H3K4me3. Y->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20541251;Dbxref=PMID:20541251 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1587_1587 144 3932 retained Mutagenesis Note=Decreases affinity for histone H3K4me3. Q->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20541251;Dbxref=PMID:20541251 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1594_1594 144 3932 retained Mutagenesis Note=Decreases affinity for histone H3K4me3. W->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20541251;Dbxref=PMID:20541251 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1594_1594 144 3932 retained Mutagenesis Note=Decreases affinity for histone H3K4me3. W->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20541251;Dbxref=PMID:20541251 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1617_1617 144 3932 retained Mutagenesis Note=Decreases binding affinity for PPIE. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20677832;Dbxref=PMID:20677832 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1619_1619 144 3932 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 2666_2667 144 3932 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 2718_2720 144 3932 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 3858_3858 144 3932 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 3858_3858 144 3932 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 3861_3861 144 3932 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 3861_3861 144 3932 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 3864_3864 144 3932 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 3867_3867 144 3932 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 3867_3867 144 3932 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 3867_3867 144 3932 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 3869_3869 144 3932 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 3871_3871 144 3932 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 3872_3872 144 3932 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 3874_3874 144 3932 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 3878_3878 144 3932 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 3906_3906 144 3932 retained Mutagenesis Note=Loss of the histone H3 methyltransferase activity. N->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19556245;Dbxref=PMID:19556245 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 3942_3942 144 3932 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 3942_3942 144 3932 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 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 144_144 144 3932 retained Sequence conflict Note=E->ELTTQIPCSWRTKGHIHDKKTEPFRLLAWSWCLN;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 556_556 144 3932 retained Sequence conflict Note=Q->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 556_556 144 3932 retained Sequence conflict Note=Q->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1347_1347 144 3932 retained Sequence conflict Note=V->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1487_1487 144 3932 retained Sequence conflict Note=R->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1490_1490 144 3932 retained Sequence conflict Note=Q->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1507_1507 144 3932 retained Sequence conflict Note=P->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1513_1513 144 3932 retained Sequence conflict Note=N->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1600_1600 144 3932 retained Sequence conflict Note=E->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1616_1616 144 3932 retained Sequence conflict Note=S->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1937_1937 144 3932 retained Sequence conflict Note=Q->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 2181_2181 144 3932 retained Sequence conflict Note=P->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 3556_3556 144 3932 retained Sequence conflict Note=K->N;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 3718_3718 144 3932 retained Sequence conflict Note=R->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 3759_3759 144 3932 retained Sequence conflict Note=N->D;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 3813_3813 144 3932 retained Sequence conflict Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 3901_3901 144 3932 retained Sequence conflict Note=A->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 114_133 144 3932 not_retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3U88 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 135_138 144 3932 not_retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MTN Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 150_152 144 3932 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MSR Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1151_1154 144 3932 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2J2S Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1156_1158 144 3932 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NW3 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1159_1162 144 3932 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NW3 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1168_1170 144 3932 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NW3 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1171_1175 144 3932 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NW3 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1177_1179 144 3932 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NW3 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1183_1185 144 3932 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2J2S Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1190_1192 144 3932 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NW3 Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1197_1200 144 3932 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2J2S Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1204_1206 144 3932 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2J2S Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1566_1568 144 3932 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQI Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1570_1572 144 3932 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1575_1577 144 3932 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQI Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1578_1582 144 3932 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2KYU Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1585_1587 144 3932 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1589_1591 144 3932 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1594_1596 144 3932 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1597_1599 144 3932 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1604_1612 144 3932 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1614_1617 144 3932 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1622_1624 144 3932 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1627_1629 144 3932 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1631_1652 144 3932 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1655_1661 144 3932 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1708_1716 144 3932 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1723_1740 144 3932 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1745_1765 144 3932 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 1771_1773 144 3932 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LQH Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 2847_2855 144 3932 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5SVH Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 3764_3766 144 3932 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4ESG Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 3796_3799 144 3932 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2W5Y Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 3809_3811 144 3932 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2W5Y Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 3816_3820 144 3932 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 3823_3830 144 3932 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 3831_3835 144 3932 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 3837_3847 144 3932 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 3854_3857 144 3932 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 3860_3864 144 3932 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 3865_3867 144 3932 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 3868_3877 144 3932 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 3884_3886 144 3932 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 3888_3894 144 3932 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 3896_3898 144 3932 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 3901_3904 144 3932 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 3912_3920 144 3932 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 3923_3932 144 3932 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene In-frame AY187942 ChiTaRS KMT2A chr11:118353215 KMT2A chr11:118339488 ENST00000354520 Q03164 + 0 35 3939_3942 144 3932 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5F5E Tgene intron-3CDS BX283235 ChiTaRS RPSAP52 chr12:66221868 ELAC2 chr17:12899297 ENST00000338034 Q9BQ52 - 16 24 1_16 553 827 not_retained Transit peptide Note=Mitochondrion;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene intron-3CDS BX283235 ChiTaRS RPSAP52 chr12:66221868 ELAC2 chr17:12899297 ENST00000338034 Q9BQ52 - 16 24 17_826 553 827 not_retained Chain ID=PRO_0000155828;Note=Zinc phosphodiesterase ELAC protein 2 Tgene intron-3CDS BX283235 ChiTaRS RPSAP52 chr12:66221868 ELAC2 chr17:12899297 ENST00000338034 Q9BQ52 - 16 24 199_199 553 827 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 Tgene intron-3CDS BX283235 ChiTaRS RPSAP52 chr12:66221868 ELAC2 chr17:12899297 ENST00000338034 Q9BQ52 - 16 24 208_208 553 827 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 Tgene intron-3CDS BX283235 ChiTaRS RPSAP52 chr12:66221868 ELAC2 chr17:12899297 ENST00000338034 Q9BQ52 - 16 24 212_212 553 827 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 Tgene intron-3CDS BX283235 ChiTaRS RPSAP52 chr12:66221868 ELAC2 chr17:12899297 ENST00000338034 Q9BQ52 - 16 24 229_229 553 827 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene intron-3CDS BX283235 ChiTaRS RPSAP52 chr12:66221868 ELAC2 chr17:12899297 ENST00000338034 Q9BQ52 - 16 24 618_618 553 827 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene intron-3CDS BX283235 ChiTaRS RPSAP52 chr12:66221868 ELAC2 chr17:12899297 ENST00000338034 Q9BQ52 - 16 24 736_736 553 827 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene intron-3CDS BX283235 ChiTaRS RPSAP52 chr12:66221868 ELAC2 chr17:12899297 ENST00000338034 Q9BQ52 - 16 24 1_372 553 827 not_retained Alternative sequence ID=VSP_009168;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene intron-3CDS BX283235 ChiTaRS RPSAP52 chr12:66221868 ELAC2 chr17:12899297 ENST00000338034 Q9BQ52 - 16 24 1_94 553 827 not_retained Alternative sequence ID=VSP_009169;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene intron-3CDS BX283235 ChiTaRS RPSAP52 chr12:66221868 ELAC2 chr17:12899297 ENST00000338034 Q9BQ52 - 16 24 188_227 553 827 not_retained Alternative sequence ID=VSP_043449;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene intron-3CDS BX283235 ChiTaRS RPSAP52 chr12:66221868 ELAC2 chr17:12899297 ENST00000338034 Q9BQ52 - 16 24 373_406 553 827 not_retained Alternative sequence ID=VSP_009170;Note=In isoform 3. NCASVHNLRSHKIQTQLNLIHPDIFPLLTSFRCK->MRTVPQFTTFAATRFKPSSTSSTRTSSPCSPVSA;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene intron-3CDS BX283235 ChiTaRS RPSAP52 chr12:66221868 ELAC2 chr17:12899297 ENST00000338034 Q9BQ52 - 16 24 554_595 553 827 retained Alternative sequence ID=VSP_009171;Note=In isoform 2. GLPSILLQRERALASLGKPLHPLLVVAPNQLKAWLQQYHNQC->VSVGLDHKAGAWRRHCHVELALWLRLFLRFQTCPELLLLISG;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene intron-3CDS BX283235 ChiTaRS RPSAP52 chr12:66221868 ELAC2 chr17:12899297 ENST00000338034 Q9BQ52 - 16 24 596_826 553 827 retained Alternative sequence ID=VSP_009172;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene intron-3CDS BX283235 ChiTaRS RPSAP52 chr12:66221868 ELAC2 chr17:12899297 ENST00000338034 Q9BQ52 - 16 24 52_52 553 827 not_retained Natural variant ID=VAR_038210;Note=S->F;Dbxref=dbSNP:rs9895963 Tgene intron-3CDS BX283235 ChiTaRS RPSAP52 chr12:66221868 ELAC2 chr17:12899297 ENST00000338034 Q9BQ52 - 16 24 154_154 553 827 not_retained Natural variant ID=VAR_070844;Note=In COXPD17. F->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23849775;Dbxref=dbSNP:rs397515465,PMID:23849775 Tgene intron-3CDS BX283235 ChiTaRS RPSAP52 chr12:66221868 ELAC2 chr17:12899297 ENST00000338034 Q9BQ52 - 16 24 211_211 553 827 not_retained Natural variant ID=VAR_017425;Note=In HPC2. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11522646;Dbxref=dbSNP:rs148419785,PMID:11522646 Tgene intron-3CDS BX283235 ChiTaRS RPSAP52 chr12:66221868 ELAC2 chr17:12899297 ENST00000338034 Q9BQ52 - 16 24 217_217 553 827 not_retained Natural variant ID=VAR_017426;Note=In HPC2%3B does not affect the enzymatic activity. S->L;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10986046,ECO:0000269|PubMed:11175785,ECO:0000269|PubMed:11522646,ECO:0000269|PubMed:12515253,ECO:0000269|PubMed:12522685,ECO:0000269|PubMed:12711671,ECO:0000269|PubMed:12783937,ECO:0000269|PubMed:15489334,ECO:0000269|PubMed:18987736,ECO:0000269|Ref.3;Dbxref=dbSNP:rs4792311,PMID:10986046,PMID:11175785,PMID:11522646,PMID:12515253,PMID:12522685,PMID:12711671,PMID:12783937,PMID:15489334,PMID:18987736 Tgene intron-3CDS BX283235 ChiTaRS RPSAP52 chr12:66221868 ELAC2 chr17:12899297 ENST00000338034 Q9BQ52 - 16 24 423_423 553 827 not_retained Natural variant ID=VAR_070845;Note=In COXPD17. L->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23849775;Dbxref=dbSNP:rs397515466,PMID:23849775 Tgene intron-3CDS BX283235 ChiTaRS RPSAP52 chr12:66221868 ELAC2 chr17:12899297 ENST00000338034 Q9BQ52 - 16 24 436_436 553 827 not_retained Natural variant ID=VAR_038211;Note=D->N;Dbxref=dbSNP:rs3760317 Tgene intron-3CDS BX283235 ChiTaRS RPSAP52 chr12:66221868 ELAC2 chr17:12899297 ENST00000338034 Q9BQ52 - 16 24 487_487 553 827 not_retained Natural variant ID=VAR_017427;Note=In HPC2. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11522646;Dbxref=dbSNP:rs752234492,PMID:11522646 Tgene intron-3CDS BX283235 ChiTaRS RPSAP52 chr12:66221868 ELAC2 chr17:12899297 ENST00000338034 Q9BQ52 - 16 24 520_520 553 827 not_retained Natural variant ID=VAR_070846;Note=In COXPD17. T->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23849775;Dbxref=dbSNP:rs397515463,PMID:23849775 Tgene intron-3CDS BX283235 ChiTaRS RPSAP52 chr12:66221868 ELAC2 chr17:12899297 ENST00000338034 Q9BQ52 - 16 24 541_541 553 827 not_retained Natural variant ID=VAR_017428;Note=In HPC2%3B does not affect the enzymatic activity. A->T;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10986046,ECO:0000269|PubMed:11175785,ECO:0000269|PubMed:11522646,ECO:0000269|PubMed:12515253,ECO:0000269|PubMed:12522685,ECO:0000269|PubMed:12711671,ECO:0000269|PubMed:12783937;Dbxref=dbSNP:rs5030739,PMID:10986046,PMID:11175785,PMID:11522646,PMID:12515253,PMID:12522685,PMID:12711671,PMID:12783937 Tgene intron-3CDS BX283235 ChiTaRS RPSAP52 chr12:66221868 ELAC2 chr17:12899297 ENST00000338034 Q9BQ52 - 16 24 622_622 553 827 retained Natural variant ID=VAR_017429;Note=In HPC2%3B higher frequency in prostate cancer cases. E->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11507049;Dbxref=dbSNP:rs119484087,PMID:11507049 Tgene intron-3CDS BX283235 ChiTaRS RPSAP52 chr12:66221868 ELAC2 chr17:12899297 ENST00000338034 Q9BQ52 - 16 24 627_627 553 827 retained Natural variant ID=VAR_017430;Note=S->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12949798;Dbxref=dbSNP:rs78105154,PMID:12949798 Tgene intron-3CDS BX283235 ChiTaRS RPSAP52 chr12:66221868 ELAC2 chr17:12899297 ENST00000338034 Q9BQ52 - 16 24 781_781 553 827 retained Natural variant ID=VAR_017431;Note=In HPC2%3B does not affect the enzymatic activity. R->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11175785,ECO:0000269|PubMed:12711671;Dbxref=dbSNP:rs119484086,PMID:11175785,PMID:12711671 Tgene intron-3CDS BX283235 ChiTaRS RPSAP52 chr12:66221868 ELAC2 chr17:12899297 ENST00000338034 Q9BQ52 - 16 24 806_806 553 827 retained Natural variant ID=VAR_017432;Note=In HPC2. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11522646;Dbxref=dbSNP:rs770669443,PMID:11522646 Tgene intron-3CDS BX283235 ChiTaRS RPSAP52 chr12:66221868 ELAC2 chr17:12899297 ENST00000338034 Q9BQ52 - 16 24 165_165 553 827 not_retained Sequence conflict Note=V->M;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene intron-3CDS BX283235 ChiTaRS RPSAP52 chr12:66221868 ELAC2 chr17:12899297 ENST00000338034 Q9BQ52 - 16 24 406_406 553 827 not_retained Sequence conflict Note=Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene intron-3CDS BX283235 ChiTaRS RPSAP52 chr12:66221868 ELAC2 chr17:12899297 ENST00000338034 Q9BQ52 - 16 24 592_592 553 827 retained Sequence conflict Note=H->Y;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene intron-3CDS BX283235 ChiTaRS RPSAP52 chr12:66221868 ELAC2 chr17:12899297 ENST00000338034 Q9BQ52 - 16 24 754_754 553 827 retained Sequence conflict Note=F->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene intron-3CDS BX283235 ChiTaRS RPSAP52 chr12:66221868 ELAC2 chr17:12899297 ENST00000426905 Q9BQ52 - 15 23 1_16 513 787 not_retained Transit peptide Note=Mitochondrion;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene intron-3CDS BX283235 ChiTaRS RPSAP52 chr12:66221868 ELAC2 chr17:12899297 ENST00000426905 Q9BQ52 - 15 23 17_826 513 787 not_retained Chain ID=PRO_0000155828;Note=Zinc phosphodiesterase ELAC protein 2 Tgene intron-3CDS BX283235 ChiTaRS RPSAP52 chr12:66221868 ELAC2 chr17:12899297 ENST00000426905 Q9BQ52 - 15 23 199_199 513 787 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 Tgene intron-3CDS BX283235 ChiTaRS RPSAP52 chr12:66221868 ELAC2 chr17:12899297 ENST00000426905 Q9BQ52 - 15 23 208_208 513 787 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 Tgene intron-3CDS BX283235 ChiTaRS RPSAP52 chr12:66221868 ELAC2 chr17:12899297 ENST00000426905 Q9BQ52 - 15 23 212_212 513 787 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 Tgene intron-3CDS BX283235 ChiTaRS RPSAP52 chr12:66221868 ELAC2 chr17:12899297 ENST00000426905 Q9BQ52 - 15 23 229_229 513 787 not_retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene intron-3CDS BX283235 ChiTaRS RPSAP52 chr12:66221868 ELAC2 chr17:12899297 ENST00000426905 Q9BQ52 - 15 23 618_618 513 787 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene intron-3CDS BX283235 ChiTaRS RPSAP52 chr12:66221868 ELAC2 chr17:12899297 ENST00000426905 Q9BQ52 - 15 23 736_736 513 787 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene intron-3CDS BX283235 ChiTaRS RPSAP52 chr12:66221868 ELAC2 chr17:12899297 ENST00000426905 Q9BQ52 - 15 23 1_372 513 787 not_retained Alternative sequence ID=VSP_009168;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene intron-3CDS BX283235 ChiTaRS RPSAP52 chr12:66221868 ELAC2 chr17:12899297 ENST00000426905 Q9BQ52 - 15 23 1_94 513 787 not_retained Alternative sequence ID=VSP_009169;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene intron-3CDS BX283235 ChiTaRS RPSAP52 chr12:66221868 ELAC2 chr17:12899297 ENST00000426905 Q9BQ52 - 15 23 188_227 513 787 not_retained Alternative sequence ID=VSP_043449;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene intron-3CDS BX283235 ChiTaRS RPSAP52 chr12:66221868 ELAC2 chr17:12899297 ENST00000426905 Q9BQ52 - 15 23 373_406 513 787 not_retained Alternative sequence ID=VSP_009170;Note=In isoform 3. NCASVHNLRSHKIQTQLNLIHPDIFPLLTSFRCK->MRTVPQFTTFAATRFKPSSTSSTRTSSPCSPVSA;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene intron-3CDS BX283235 ChiTaRS RPSAP52 chr12:66221868 ELAC2 chr17:12899297 ENST00000426905 Q9BQ52 - 15 23 554_595 513 787 retained Alternative sequence ID=VSP_009171;Note=In isoform 2. GLPSILLQRERALASLGKPLHPLLVVAPNQLKAWLQQYHNQC->VSVGLDHKAGAWRRHCHVELALWLRLFLRFQTCPELLLLISG;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene intron-3CDS BX283235 ChiTaRS RPSAP52 chr12:66221868 ELAC2 chr17:12899297 ENST00000426905 Q9BQ52 - 15 23 596_826 513 787 retained Alternative sequence ID=VSP_009172;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene intron-3CDS BX283235 ChiTaRS RPSAP52 chr12:66221868 ELAC2 chr17:12899297 ENST00000426905 Q9BQ52 - 15 23 52_52 513 787 not_retained Natural variant ID=VAR_038210;Note=S->F;Dbxref=dbSNP:rs9895963 Tgene intron-3CDS BX283235 ChiTaRS RPSAP52 chr12:66221868 ELAC2 chr17:12899297 ENST00000426905 Q9BQ52 - 15 23 154_154 513 787 not_retained Natural variant ID=VAR_070844;Note=In COXPD17. F->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23849775;Dbxref=dbSNP:rs397515465,PMID:23849775 Tgene intron-3CDS BX283235 ChiTaRS RPSAP52 chr12:66221868 ELAC2 chr17:12899297 ENST00000426905 Q9BQ52 - 15 23 211_211 513 787 not_retained Natural variant ID=VAR_017425;Note=In HPC2. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11522646;Dbxref=dbSNP:rs148419785,PMID:11522646 Tgene intron-3CDS BX283235 ChiTaRS RPSAP52 chr12:66221868 ELAC2 chr17:12899297 ENST00000426905 Q9BQ52 - 15 23 217_217 513 787 not_retained Natural variant ID=VAR_017426;Note=In HPC2%3B does not affect the enzymatic activity. S->L;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10986046,ECO:0000269|PubMed:11175785,ECO:0000269|PubMed:11522646,ECO:0000269|PubMed:12515253,ECO:0000269|PubMed:12522685,ECO:0000269|PubMed:12711671,ECO:0000269|PubMed:12783937,ECO:0000269|PubMed:15489334,ECO:0000269|PubMed:18987736,ECO:0000269|Ref.3;Dbxref=dbSNP:rs4792311,PMID:10986046,PMID:11175785,PMID:11522646,PMID:12515253,PMID:12522685,PMID:12711671,PMID:12783937,PMID:15489334,PMID:18987736 Tgene intron-3CDS BX283235 ChiTaRS RPSAP52 chr12:66221868 ELAC2 chr17:12899297 ENST00000426905 Q9BQ52 - 15 23 423_423 513 787 not_retained Natural variant ID=VAR_070845;Note=In COXPD17. L->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23849775;Dbxref=dbSNP:rs397515466,PMID:23849775 Tgene intron-3CDS BX283235 ChiTaRS RPSAP52 chr12:66221868 ELAC2 chr17:12899297 ENST00000426905 Q9BQ52 - 15 23 436_436 513 787 not_retained Natural variant ID=VAR_038211;Note=D->N;Dbxref=dbSNP:rs3760317 Tgene intron-3CDS BX283235 ChiTaRS RPSAP52 chr12:66221868 ELAC2 chr17:12899297 ENST00000426905 Q9BQ52 - 15 23 487_487 513 787 not_retained Natural variant ID=VAR_017427;Note=In HPC2. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11522646;Dbxref=dbSNP:rs752234492,PMID:11522646 Tgene intron-3CDS BX283235 ChiTaRS RPSAP52 chr12:66221868 ELAC2 chr17:12899297 ENST00000426905 Q9BQ52 - 15 23 520_520 513 787 retained Natural variant ID=VAR_070846;Note=In COXPD17. T->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23849775;Dbxref=dbSNP:rs397515463,PMID:23849775 Tgene intron-3CDS BX283235 ChiTaRS RPSAP52 chr12:66221868 ELAC2 chr17:12899297 ENST00000426905 Q9BQ52 - 15 23 541_541 513 787 retained Natural variant ID=VAR_017428;Note=In HPC2%3B does not affect the enzymatic activity. A->T;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10986046,ECO:0000269|PubMed:11175785,ECO:0000269|PubMed:11522646,ECO:0000269|PubMed:12515253,ECO:0000269|PubMed:12522685,ECO:0000269|PubMed:12711671,ECO:0000269|PubMed:12783937;Dbxref=dbSNP:rs5030739,PMID:10986046,PMID:11175785,PMID:11522646,PMID:12515253,PMID:12522685,PMID:12711671,PMID:12783937 Tgene intron-3CDS BX283235 ChiTaRS RPSAP52 chr12:66221868 ELAC2 chr17:12899297 ENST00000426905 Q9BQ52 - 15 23 622_622 513 787 retained Natural variant ID=VAR_017429;Note=In HPC2%3B higher frequency in prostate cancer cases. E->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11507049;Dbxref=dbSNP:rs119484087,PMID:11507049 Tgene intron-3CDS BX283235 ChiTaRS RPSAP52 chr12:66221868 ELAC2 chr17:12899297 ENST00000426905 Q9BQ52 - 15 23 627_627 513 787 retained Natural variant ID=VAR_017430;Note=S->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12949798;Dbxref=dbSNP:rs78105154,PMID:12949798 Tgene intron-3CDS BX283235 ChiTaRS RPSAP52 chr12:66221868 ELAC2 chr17:12899297 ENST00000426905 Q9BQ52 - 15 23 781_781 513 787 retained Natural variant ID=VAR_017431;Note=In HPC2%3B does not affect the enzymatic activity. R->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11175785,ECO:0000269|PubMed:12711671;Dbxref=dbSNP:rs119484086,PMID:11175785,PMID:12711671 Tgene intron-3CDS BX283235 ChiTaRS RPSAP52 chr12:66221868 ELAC2 chr17:12899297 ENST00000426905 Q9BQ52 - 15 23 806_806 513 787 retained Natural variant ID=VAR_017432;Note=In HPC2. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11522646;Dbxref=dbSNP:rs770669443,PMID:11522646 Tgene intron-3CDS BX283235 ChiTaRS RPSAP52 chr12:66221868 ELAC2 chr17:12899297 ENST00000426905 Q9BQ52 - 15 23 165_165 513 787 not_retained Sequence conflict Note=V->M;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene intron-3CDS BX283235 ChiTaRS RPSAP52 chr12:66221868 ELAC2 chr17:12899297 ENST00000426905 Q9BQ52 - 15 23 406_406 513 787 not_retained Sequence conflict Note=Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene intron-3CDS BX283235 ChiTaRS RPSAP52 chr12:66221868 ELAC2 chr17:12899297 ENST00000426905 Q9BQ52 - 15 23 592_592 513 787 retained Sequence conflict Note=H->Y;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene intron-3CDS BX283235 ChiTaRS RPSAP52 chr12:66221868 ELAC2 chr17:12899297 ENST00000426905 Q9BQ52 - 15 23 754_754 513 787 retained Sequence conflict Note=F->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000597960 Q14318 - 0 9 1_412 -9 414 retained Chain ID=PRO_0000075331;Note=Peptidyl-prolyl cis-trans isomerase FKBP8 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000597960 Q14318 - 0 9 390_410 -9 414 retained Transmembrane Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000597960 Q14318 - 0 9 120_204 -9 414 retained Domain Note=PPIase FKBP-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00277 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000597960 Q14318 - 0 9 221_254 -9 414 retained Repeat Note=TPR 1 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000597960 Q14318 - 0 9 272_305 -9 414 retained Repeat Note=TPR 2 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000597960 Q14318 - 0 9 306_339 -9 414 retained Repeat Note=TPR 3 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000597960 Q14318 - 0 9 22_92 -9 414 retained Compositional bias Note=Glu-rich Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000597960 Q14318 - 0 9 149_149 -9 414 retained Mutagenesis Note=Abolishes calcium-binding and reduces affinity for BCL2%3B when associated with Asn-151. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20140889;Dbxref=PMID:20140889 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000597960 Q14318 - 0 9 151_151 -9 414 retained Mutagenesis Note=Abolishes calcium-binding and reduces affinity for BCL2%3B when associated with Asn-149. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20140889;Dbxref=PMID:20140889 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000597960 Q14318 - 0 9 296_296 -9 414 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000597960 Q14318 - 0 9 249_249 -9 414 retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25621951;Dbxref=PMID:25621951 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000597960 Q14318 - 0 9 271_271 -9 414 retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25621951;Dbxref=PMID:25621951 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000597960 Q14318 - 0 9 273_273 -9 414 retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25621951;Dbxref=PMID:25621951 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000597960 Q14318 - 0 9 284_284 -9 414 retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25621951;Dbxref=PMID:25621951 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000597960 Q14318 - 0 9 307_307 -9 414 retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25621951;Dbxref=PMID:25621951 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000597960 Q14318 - 0 9 314_314 -9 414 retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25621951;Dbxref=PMID:25621951 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000597960 Q14318 - 0 9 334_334 -9 414 retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25621951;Dbxref=PMID:25621951 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000597960 Q14318 - 0 9 340_340 -9 414 retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25621951;Dbxref=PMID:25621951 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000597960 Q14318 - 0 9 348_348 -9 414 retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25621951;Dbxref=PMID:25621951 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000597960 Q14318 - 0 9 351_351 -9 414 retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25621951;Dbxref=PMID:25621951 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000597960 Q14318 - 0 9 352_352 -9 414 retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25621951;Dbxref=PMID:25621951 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000597960 Q14318 - 0 9 98_256 -9 414 retained Alternative sequence ID=VSP_047717;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:18385096;Dbxref=PMID:18385096 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000597960 Q14318 - 0 9 183_183 -9 414 retained Alternative sequence ID=VSP_034486;Note=In isoform 2. G->GS;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:17974005,ECO:0000303|Ref.8;Dbxref=PMID:17974005 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000597960 Q14318 - 0 9 87_87 -9 414 retained Natural variant ID=VAR_044225;Note=A->V;Dbxref=dbSNP:rs11574806 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000597960 Q14318 - 0 9 149_149 -9 414 retained Mutagenesis Note=Abolishes calcium-binding and reduces affinity for BCL2%3B when associated with Asn-151. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20140889;Dbxref=PMID:20140889 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000597960 Q14318 - 0 9 151_151 -9 414 retained Mutagenesis Note=Abolishes calcium-binding and reduces affinity for BCL2%3B when associated with Asn-149. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20140889;Dbxref=PMID:20140889 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000597960 Q14318 - 0 9 144_144 -9 414 retained Sequence conflict Note=V->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000597960 Q14318 - 0 9 191_191 -9 414 retained Sequence conflict Note=H->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000597960 Q14318 - 0 9 206_206 -9 414 retained Sequence conflict Note=G->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000597960 Q14318 - 0 9 94_108 -9 414 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EY6 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000597960 Q14318 - 0 9 111_113 -9 414 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MF9 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000597960 Q14318 - 0 9 121_131 -9 414 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EY6 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000597960 Q14318 - 0 9 136_146 -9 414 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EY6 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000597960 Q14318 - 0 9 147_150 -9 414 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MF9 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000597960 Q14318 - 0 9 154_157 -9 414 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EY6 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000597960 Q14318 - 0 9 160_162 -9 414 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EY6 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000597960 Q14318 - 0 9 168_173 -9 414 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EY6 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000597960 Q14318 - 0 9 175_177 -9 414 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EY6 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000597960 Q14318 - 0 9 180_182 -9 414 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EY6 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000597960 Q14318 - 0 9 185_187 -9 414 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EY6 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000597960 Q14318 - 0 9 190_192 -9 414 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F2D Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000597960 Q14318 - 0 9 194_204 -9 414 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EY6 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000597960 Q14318 - 0 9 209_211 -9 414 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5MGX Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000597960 Q14318 - 0 9 214_233 -9 414 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5MGX Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000597960 Q14318 - 0 9 237_252 -9 414 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5MGX Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000597960 Q14318 - 0 9 261_284 -9 414 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5MGX Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000597960 Q14318 - 0 9 288_301 -9 414 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5MGX Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000597960 Q14318 - 0 9 306_319 -9 414 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5MGX Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000597960 Q14318 - 0 9 322_335 -9 414 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5MGX Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000597960 Q14318 - 0 9 340_354 -9 414 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5MGX Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000596558 Q14318 - 0 9 1_412 -9 413 retained Chain ID=PRO_0000075331;Note=Peptidyl-prolyl cis-trans isomerase FKBP8 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000596558 Q14318 - 0 9 390_410 -9 413 retained Transmembrane Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000596558 Q14318 - 0 9 120_204 -9 413 retained Domain Note=PPIase FKBP-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00277 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000596558 Q14318 - 0 9 221_254 -9 413 retained Repeat Note=TPR 1 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000596558 Q14318 - 0 9 272_305 -9 413 retained Repeat Note=TPR 2 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000596558 Q14318 - 0 9 306_339 -9 413 retained Repeat Note=TPR 3 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000596558 Q14318 - 0 9 22_92 -9 413 retained Compositional bias Note=Glu-rich Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000596558 Q14318 - 0 9 149_149 -9 413 retained Mutagenesis Note=Abolishes calcium-binding and reduces affinity for BCL2%3B when associated with Asn-151. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20140889;Dbxref=PMID:20140889 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000596558 Q14318 - 0 9 151_151 -9 413 retained Mutagenesis Note=Abolishes calcium-binding and reduces affinity for BCL2%3B when associated with Asn-149. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20140889;Dbxref=PMID:20140889 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000596558 Q14318 - 0 9 296_296 -9 413 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000596558 Q14318 - 0 9 249_249 -9 413 retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25621951;Dbxref=PMID:25621951 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000596558 Q14318 - 0 9 271_271 -9 413 retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25621951;Dbxref=PMID:25621951 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000596558 Q14318 - 0 9 273_273 -9 413 retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25621951;Dbxref=PMID:25621951 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000596558 Q14318 - 0 9 284_284 -9 413 retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25621951;Dbxref=PMID:25621951 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000596558 Q14318 - 0 9 307_307 -9 413 retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25621951;Dbxref=PMID:25621951 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000596558 Q14318 - 0 9 314_314 -9 413 retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25621951;Dbxref=PMID:25621951 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000596558 Q14318 - 0 9 334_334 -9 413 retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25621951;Dbxref=PMID:25621951 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000596558 Q14318 - 0 9 340_340 -9 413 retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25621951;Dbxref=PMID:25621951 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000596558 Q14318 - 0 9 348_348 -9 413 retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25621951;Dbxref=PMID:25621951 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000596558 Q14318 - 0 9 351_351 -9 413 retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25621951;Dbxref=PMID:25621951 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000596558 Q14318 - 0 9 352_352 -9 413 retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25621951;Dbxref=PMID:25621951 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000596558 Q14318 - 0 9 98_256 -9 413 retained Alternative sequence ID=VSP_047717;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:18385096;Dbxref=PMID:18385096 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000596558 Q14318 - 0 9 183_183 -9 413 retained Alternative sequence ID=VSP_034486;Note=In isoform 2. G->GS;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:17974005,ECO:0000303|Ref.8;Dbxref=PMID:17974005 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000596558 Q14318 - 0 9 87_87 -9 413 retained Natural variant ID=VAR_044225;Note=A->V;Dbxref=dbSNP:rs11574806 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000596558 Q14318 - 0 9 149_149 -9 413 retained Mutagenesis Note=Abolishes calcium-binding and reduces affinity for BCL2%3B when associated with Asn-151. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20140889;Dbxref=PMID:20140889 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000596558 Q14318 - 0 9 151_151 -9 413 retained Mutagenesis Note=Abolishes calcium-binding and reduces affinity for BCL2%3B when associated with Asn-149. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20140889;Dbxref=PMID:20140889 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000596558 Q14318 - 0 9 144_144 -9 413 retained Sequence conflict Note=V->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000596558 Q14318 - 0 9 191_191 -9 413 retained Sequence conflict Note=H->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000596558 Q14318 - 0 9 206_206 -9 413 retained Sequence conflict Note=G->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000596558 Q14318 - 0 9 94_108 -9 413 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EY6 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000596558 Q14318 - 0 9 111_113 -9 413 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MF9 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000596558 Q14318 - 0 9 121_131 -9 413 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EY6 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000596558 Q14318 - 0 9 136_146 -9 413 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EY6 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000596558 Q14318 - 0 9 147_150 -9 413 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MF9 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000596558 Q14318 - 0 9 154_157 -9 413 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EY6 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000596558 Q14318 - 0 9 160_162 -9 413 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EY6 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000596558 Q14318 - 0 9 168_173 -9 413 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EY6 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000596558 Q14318 - 0 9 175_177 -9 413 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EY6 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000596558 Q14318 - 0 9 180_182 -9 413 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EY6 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000596558 Q14318 - 0 9 185_187 -9 413 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EY6 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000596558 Q14318 - 0 9 190_192 -9 413 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F2D Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000596558 Q14318 - 0 9 194_204 -9 413 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EY6 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000596558 Q14318 - 0 9 209_211 -9 413 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5MGX Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000596558 Q14318 - 0 9 214_233 -9 413 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5MGX Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000596558 Q14318 - 0 9 237_252 -9 413 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5MGX Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000596558 Q14318 - 0 9 261_284 -9 413 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5MGX Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000596558 Q14318 - 0 9 288_301 -9 413 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5MGX Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000596558 Q14318 - 0 9 306_319 -9 413 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5MGX Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000596558 Q14318 - 0 9 322_335 -9 413 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5MGX Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000596558 Q14318 - 0 9 340_354 -9 413 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5MGX Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000222308 Q14318 - 0 9 1_412 -9 413 retained Chain ID=PRO_0000075331;Note=Peptidyl-prolyl cis-trans isomerase FKBP8 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000222308 Q14318 - 0 9 390_410 -9 413 retained Transmembrane Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000222308 Q14318 - 0 9 120_204 -9 413 retained Domain Note=PPIase FKBP-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00277 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000222308 Q14318 - 0 9 221_254 -9 413 retained Repeat Note=TPR 1 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000222308 Q14318 - 0 9 272_305 -9 413 retained Repeat Note=TPR 2 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000222308 Q14318 - 0 9 306_339 -9 413 retained Repeat Note=TPR 3 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000222308 Q14318 - 0 9 22_92 -9 413 retained Compositional bias Note=Glu-rich Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000222308 Q14318 - 0 9 149_149 -9 413 retained Mutagenesis Note=Abolishes calcium-binding and reduces affinity for BCL2%3B when associated with Asn-151. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20140889;Dbxref=PMID:20140889 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000222308 Q14318 - 0 9 151_151 -9 413 retained Mutagenesis Note=Abolishes calcium-binding and reduces affinity for BCL2%3B when associated with Asn-149. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20140889;Dbxref=PMID:20140889 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000222308 Q14318 - 0 9 296_296 -9 413 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000222308 Q14318 - 0 9 249_249 -9 413 retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25621951;Dbxref=PMID:25621951 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000222308 Q14318 - 0 9 271_271 -9 413 retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25621951;Dbxref=PMID:25621951 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000222308 Q14318 - 0 9 273_273 -9 413 retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25621951;Dbxref=PMID:25621951 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000222308 Q14318 - 0 9 284_284 -9 413 retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25621951;Dbxref=PMID:25621951 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000222308 Q14318 - 0 9 307_307 -9 413 retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25621951;Dbxref=PMID:25621951 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000222308 Q14318 - 0 9 314_314 -9 413 retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25621951;Dbxref=PMID:25621951 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000222308 Q14318 - 0 9 334_334 -9 413 retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25621951;Dbxref=PMID:25621951 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000222308 Q14318 - 0 9 340_340 -9 413 retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25621951;Dbxref=PMID:25621951 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000222308 Q14318 - 0 9 348_348 -9 413 retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25621951;Dbxref=PMID:25621951 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000222308 Q14318 - 0 9 351_351 -9 413 retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25621951;Dbxref=PMID:25621951 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000222308 Q14318 - 0 9 352_352 -9 413 retained Cross-link Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25621951;Dbxref=PMID:25621951 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000222308 Q14318 - 0 9 98_256 -9 413 retained Alternative sequence ID=VSP_047717;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:18385096;Dbxref=PMID:18385096 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000222308 Q14318 - 0 9 183_183 -9 413 retained Alternative sequence ID=VSP_034486;Note=In isoform 2. G->GS;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:17974005,ECO:0000303|Ref.8;Dbxref=PMID:17974005 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000222308 Q14318 - 0 9 87_87 -9 413 retained Natural variant ID=VAR_044225;Note=A->V;Dbxref=dbSNP:rs11574806 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000222308 Q14318 - 0 9 149_149 -9 413 retained Mutagenesis Note=Abolishes calcium-binding and reduces affinity for BCL2%3B when associated with Asn-151. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20140889;Dbxref=PMID:20140889 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000222308 Q14318 - 0 9 151_151 -9 413 retained Mutagenesis Note=Abolishes calcium-binding and reduces affinity for BCL2%3B when associated with Asn-149. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20140889;Dbxref=PMID:20140889 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000222308 Q14318 - 0 9 144_144 -9 413 retained Sequence conflict Note=V->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000222308 Q14318 - 0 9 191_191 -9 413 retained Sequence conflict Note=H->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000222308 Q14318 - 0 9 206_206 -9 413 retained Sequence conflict Note=G->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000222308 Q14318 - 0 9 94_108 -9 413 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EY6 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000222308 Q14318 - 0 9 111_113 -9 413 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MF9 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000222308 Q14318 - 0 9 121_131 -9 413 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EY6 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000222308 Q14318 - 0 9 136_146 -9 413 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EY6 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000222308 Q14318 - 0 9 147_150 -9 413 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MF9 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000222308 Q14318 - 0 9 154_157 -9 413 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EY6 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000222308 Q14318 - 0 9 160_162 -9 413 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EY6 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000222308 Q14318 - 0 9 168_173 -9 413 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EY6 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000222308 Q14318 - 0 9 175_177 -9 413 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EY6 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000222308 Q14318 - 0 9 180_182 -9 413 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EY6 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000222308 Q14318 - 0 9 185_187 -9 413 retained Turn Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EY6 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000222308 Q14318 - 0 9 190_192 -9 413 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2F2D Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000222308 Q14318 - 0 9 194_204 -9 413 retained Beta strand Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EY6 Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000222308 Q14318 - 0 9 209_211 -9 413 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5MGX Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000222308 Q14318 - 0 9 214_233 -9 413 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5MGX Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000222308 Q14318 - 0 9 237_252 -9 413 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5MGX Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000222308 Q14318 - 0 9 261_284 -9 413 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5MGX Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000222308 Q14318 - 0 9 288_301 -9 413 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5MGX Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000222308 Q14318 - 0 9 306_319 -9 413 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5MGX Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000222308 Q14318 - 0 9 322_335 -9 413 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5MGX Tgene 5CDS-5UTR CB153060 ChiTaRS OAZ1 chr19:2269744 FKBP8 chr19:18652807 ENST00000222308 Q14318 - 0 9 340_354 -9 413 retained Helix Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5MGX Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000437600 Q13948 + 13 23 1_678 416 677 not_retained Chain ID=PRO_0000071790;Note=Protein CASP Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000437600 Q13948 + 13 23 1_619 416 677 not_retained Topological domain Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000437600 Q13948 + 13 23 620_640 416 677 retained Transmembrane Note=Helical%3B Anchor for type IV membrane protein;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000437600 Q13948 + 13 23 641_678 416 677 retained Topological domain Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000437600 Q13948 + 13 23 67_450 416 677 not_retained Coiled coil Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000437600 Q13948 + 13 23 502_556 416 677 retained Coiled coil Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000437600 Q13948 + 13 23 586_586 416 677 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000437600 Q13948 + 13 23 22_58 416 677 not_retained Alternative sequence ID=VSP_045593;Note=In isoform 9. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000437600 Q13948 + 13 23 58_73 416 677 not_retained Alternative sequence ID=VSP_045927;Note=In isoform 10. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000437600 Q13948 + 13 23 288_289 416 677 not_retained Alternative sequence ID=VSP_040094;Note=In isoform 8 and isoform 9. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000437600 Q13948 + 13 23 464_464 416 677 retained Natural variant ID=VAR_024923;Note=A->T;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14702039,ECO:0000269|Ref.3;Dbxref=dbSNP:rs803064,PMID:14702039 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000437600 Q13948 + 13 23 490_490 416 677 retained Natural variant ID=VAR_036285;Note=In a breast cancer sample%3B somatic mutation. S->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16959974;Dbxref=PMID:16959974 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000437600 Q13948 + 13 23 545_545 416 677 retained Natural variant ID=VAR_024924;Note=I->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs2230103,PMID:15489334 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000437600 Q13948 + 13 23 609_609 416 677 retained Natural variant ID=VAR_036286;Note=In a colorectal cancer sample%3B somatic mutation. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16959974;Dbxref=PMID:16959974 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000437600 Q13948 + 13 23 624_624 416 677 retained Mutagenesis Note=Retained in the endoplasmic reticulum. Y->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12429822;Dbxref=PMID:12429822 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000437600 Q13948 + 13 23 629_629 416 677 retained Mutagenesis Note=No effect on subcellular location. H->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12429822;Dbxref=PMID:12429822 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000437600 Q13948 + 13 23 407_407 416 677 not_retained Sequence conflict Note=N->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000437600 Q13948 + 13 23 455_455 416 677 retained Sequence conflict Note=I->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000437600 Q13948 + 13 23 525_525 416 677 retained Sequence conflict Note=L->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000437600 Q13948 + 13 23 551_551 416 677 retained Sequence conflict Note=I->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000437600 Q13948 + 13 23 613_613 416 677 retained Sequence conflict Note=S->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000437600 Q13948 + 13 23 657_657 416 677 retained Sequence conflict Note=F->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000292538 Q13948 + 13 23 1_678 418 679 not_retained Chain ID=PRO_0000071790;Note=Protein CASP Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000292538 Q13948 + 13 23 1_619 418 679 not_retained Topological domain Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000292538 Q13948 + 13 23 620_640 418 679 retained Transmembrane Note=Helical%3B Anchor for type IV membrane protein;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000292538 Q13948 + 13 23 641_678 418 679 retained Topological domain Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000292538 Q13948 + 13 23 67_450 418 679 not_retained Coiled coil Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000292538 Q13948 + 13 23 502_556 418 679 retained Coiled coil Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000292538 Q13948 + 13 23 586_586 418 679 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000292538 Q13948 + 13 23 22_58 418 679 not_retained Alternative sequence ID=VSP_045593;Note=In isoform 9. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000292538 Q13948 + 13 23 58_73 418 679 not_retained Alternative sequence ID=VSP_045927;Note=In isoform 10. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000292538 Q13948 + 13 23 288_289 418 679 not_retained Alternative sequence ID=VSP_040094;Note=In isoform 8 and isoform 9. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000292538 Q13948 + 13 23 464_464 418 679 retained Natural variant ID=VAR_024923;Note=A->T;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14702039,ECO:0000269|Ref.3;Dbxref=dbSNP:rs803064,PMID:14702039 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000292538 Q13948 + 13 23 490_490 418 679 retained Natural variant ID=VAR_036285;Note=In a breast cancer sample%3B somatic mutation. S->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16959974;Dbxref=PMID:16959974 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000292538 Q13948 + 13 23 545_545 418 679 retained Natural variant ID=VAR_024924;Note=I->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs2230103,PMID:15489334 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000292538 Q13948 + 13 23 609_609 418 679 retained Natural variant ID=VAR_036286;Note=In a colorectal cancer sample%3B somatic mutation. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16959974;Dbxref=PMID:16959974 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000292538 Q13948 + 13 23 624_624 418 679 retained Mutagenesis Note=Retained in the endoplasmic reticulum. Y->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12429822;Dbxref=PMID:12429822 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000292538 Q13948 + 13 23 629_629 418 679 retained Mutagenesis Note=No effect on subcellular location. H->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12429822;Dbxref=PMID:12429822 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000292538 Q13948 + 13 23 407_407 418 679 not_retained Sequence conflict Note=N->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000292538 Q13948 + 13 23 455_455 418 679 retained Sequence conflict Note=I->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000292538 Q13948 + 13 23 525_525 418 679 retained Sequence conflict Note=L->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000292538 Q13948 + 13 23 551_551 418 679 retained Sequence conflict Note=I->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000292538 Q13948 + 13 23 613_613 418 679 retained Sequence conflict Note=S->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000292538 Q13948 + 13 23 657_657 418 679 retained Sequence conflict Note=F->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000393824 Q13948 + 12 22 1_678 379 640 not_retained Chain ID=PRO_0000071790;Note=Protein CASP Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000393824 Q13948 + 12 22 1_619 379 640 not_retained Topological domain Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000393824 Q13948 + 12 22 620_640 379 640 retained Transmembrane Note=Helical%3B Anchor for type IV membrane protein;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000393824 Q13948 + 12 22 641_678 379 640 retained Topological domain Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000393824 Q13948 + 12 22 67_450 379 640 not_retained Coiled coil Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000393824 Q13948 + 12 22 502_556 379 640 retained Coiled coil Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000393824 Q13948 + 12 22 586_586 379 640 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000393824 Q13948 + 12 22 22_58 379 640 not_retained Alternative sequence ID=VSP_045593;Note=In isoform 9. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000393824 Q13948 + 12 22 58_73 379 640 not_retained Alternative sequence ID=VSP_045927;Note=In isoform 10. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000393824 Q13948 + 12 22 288_289 379 640 not_retained Alternative sequence ID=VSP_040094;Note=In isoform 8 and isoform 9. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000393824 Q13948 + 12 22 464_464 379 640 retained Natural variant ID=VAR_024923;Note=A->T;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14702039,ECO:0000269|Ref.3;Dbxref=dbSNP:rs803064,PMID:14702039 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000393824 Q13948 + 12 22 490_490 379 640 retained Natural variant ID=VAR_036285;Note=In a breast cancer sample%3B somatic mutation. S->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16959974;Dbxref=PMID:16959974 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000393824 Q13948 + 12 22 545_545 379 640 retained Natural variant ID=VAR_024924;Note=I->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs2230103,PMID:15489334 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000393824 Q13948 + 12 22 609_609 379 640 retained Natural variant ID=VAR_036286;Note=In a colorectal cancer sample%3B somatic mutation. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16959974;Dbxref=PMID:16959974 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000393824 Q13948 + 12 22 624_624 379 640 retained Mutagenesis Note=Retained in the endoplasmic reticulum. Y->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12429822;Dbxref=PMID:12429822 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000393824 Q13948 + 12 22 629_629 379 640 retained Mutagenesis Note=No effect on subcellular location. H->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12429822;Dbxref=PMID:12429822 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000393824 Q13948 + 12 22 407_407 379 640 retained Sequence conflict Note=N->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000393824 Q13948 + 12 22 455_455 379 640 retained Sequence conflict Note=I->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000393824 Q13948 + 12 22 525_525 379 640 retained Sequence conflict Note=L->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000393824 Q13948 + 12 22 551_551 379 640 retained Sequence conflict Note=I->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000393824 Q13948 + 12 22 613_613 379 640 retained Sequence conflict Note=S->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000393824 Q13948 + 12 22 657_657 379 640 retained Sequence conflict Note=F->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000547394 Q13948 + 12 22 1_678 402 663 not_retained Chain ID=PRO_0000071790;Note=Protein CASP Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000547394 Q13948 + 12 22 1_619 402 663 not_retained Topological domain Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000547394 Q13948 + 12 22 620_640 402 663 retained Transmembrane Note=Helical%3B Anchor for type IV membrane protein;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000547394 Q13948 + 12 22 641_678 402 663 retained Topological domain Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000547394 Q13948 + 12 22 67_450 402 663 not_retained Coiled coil Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000547394 Q13948 + 12 22 502_556 402 663 retained Coiled coil Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000547394 Q13948 + 12 22 586_586 402 663 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000547394 Q13948 + 12 22 22_58 402 663 not_retained Alternative sequence ID=VSP_045593;Note=In isoform 9. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000547394 Q13948 + 12 22 58_73 402 663 not_retained Alternative sequence ID=VSP_045927;Note=In isoform 10. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000547394 Q13948 + 12 22 288_289 402 663 not_retained Alternative sequence ID=VSP_040094;Note=In isoform 8 and isoform 9. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000547394 Q13948 + 12 22 464_464 402 663 retained Natural variant ID=VAR_024923;Note=A->T;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14702039,ECO:0000269|Ref.3;Dbxref=dbSNP:rs803064,PMID:14702039 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000547394 Q13948 + 12 22 490_490 402 663 retained Natural variant ID=VAR_036285;Note=In a breast cancer sample%3B somatic mutation. S->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16959974;Dbxref=PMID:16959974 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000547394 Q13948 + 12 22 545_545 402 663 retained Natural variant ID=VAR_024924;Note=I->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs2230103,PMID:15489334 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000547394 Q13948 + 12 22 609_609 402 663 retained Natural variant ID=VAR_036286;Note=In a colorectal cancer sample%3B somatic mutation. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16959974;Dbxref=PMID:16959974 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000547394 Q13948 + 12 22 624_624 402 663 retained Mutagenesis Note=Retained in the endoplasmic reticulum. Y->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12429822;Dbxref=PMID:12429822 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000547394 Q13948 + 12 22 629_629 402 663 retained Mutagenesis Note=No effect on subcellular location. H->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12429822;Dbxref=PMID:12429822 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000547394 Q13948 + 12 22 407_407 402 663 retained Sequence conflict Note=N->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000547394 Q13948 + 12 22 455_455 402 663 retained Sequence conflict Note=I->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000547394 Q13948 + 12 22 525_525 402 663 retained Sequence conflict Note=L->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000547394 Q13948 + 12 22 551_551 402 663 retained Sequence conflict Note=I->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000547394 Q13948 + 12 22 613_613 402 663 retained Sequence conflict Note=S->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000547394 Q13948 + 12 22 657_657 402 663 retained Sequence conflict Note=F->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000360264 P39880 + 0 24 1_1505 -7 1517 retained Chain ID=PRO_0000202393;Note=Homeobox protein cut-like 1 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000360264 P39880 + 0 24 542_629 -7 1517 retained DNA binding Note=CUT 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00374 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000360264 P39880 + 0 24 934_1021 -7 1517 retained DNA binding Note=CUT 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00374 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000360264 P39880 + 0 24 1117_1204 -7 1517 retained DNA binding Note=CUT 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00374 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000360264 P39880 + 0 24 1244_1303 -7 1517 retained DNA binding Note=Homeobox;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00108 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000360264 P39880 + 0 24 56_407 -7 1517 retained Coiled coil Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000360264 P39880 + 0 24 1406_1438 -7 1517 retained Compositional bias Note=Ala-rich Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000360264 P39880 + 0 24 763_763 -7 1517 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:20068231;Dbxref=PMID:20068231 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000360264 P39880 + 0 24 909_909 -7 1517 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P53565 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000360264 P39880 + 0 24 1059_1059 -7 1517 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000360264 P39880 + 0 24 1069_1069 -7 1517 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P53565 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000360264 P39880 + 0 24 1270_1270 -7 1517 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000360264 P39880 + 0 24 1337_1337 -7 1517 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P53564 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000360264 P39880 + 0 24 1455_1455 -7 1517 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000360264 P39880 + 0 24 1486_1486 -7 1517 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000360264 P39880 + 0 24 1496_1496 -7 1517 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P53564 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000360264 P39880 + 0 24 785_785 -7 1517 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 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000360264 P39880 + 0 24 811_811 -7 1517 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:25772364,ECO:0000244|PubMed:28112733;Dbxref=PMID:25772364,PMID:28112733 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000360264 P39880 + 0 24 842_842 -7 1517 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 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000360264 P39880 + 0 24 1284_1284 -7 1517 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 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000360264 P39880 + 0 24 1_10 -7 1517 retained Alternative sequence ID=VSP_015747;Note=In isoform 3 and isoform 11. MLCVAGARLK->MAANVGSMFQYWKRFDLQQLQ;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000360264 P39880 + 0 24 90_135 -7 1517 retained Alternative sequence ID=VSP_045924;Note=In isoform 11. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000360264 P39880 + 0 24 408_509 -7 1517 retained Alternative sequence ID=VSP_017358;Note=In isoform 5 and isoform 7. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000360264 P39880 + 0 24 409_667 -7 1517 retained Alternative sequence ID=VSP_045925;Note=In isoform 11. SARRKGKDQPESRRPGSLPAPPPSQLPRNPGEQASNTNGTHQFSPAGLSQDFFSSSLASPSLPLASTGKFALNSLLQRQLMQSFYSKAMQEAGSTSMIFSTGPYSTNSISSQSPLQQSPDVNGMAPSPSQSESAGSVSEGEEMDTAEIARQVKEQLIKHNIGQRIFGHYVLGLSQGSVSEILARPKPWNKLTVRGKEPFHKMKQFLSDEQNILALRSIQGRQRENPGQSLNRLFQEVPKRRNGSEGNITTRIRASETGS->RCAELQVRITEAVATATEQRELIARLEQDLSIIQSIQRPDAEGAAEHRLEKIPEPIKEATALFYGPAAPASGALPEGQVDSLLSIISSQRERFRARNQELEAENRLAQHTLQALQSELDSLRADNIKLFEKIKFLQSYPGRGSGSDDTELRYSSQYEERLDPFSSFSKRERQRKYLSLSPWDKATLSMGRLVLSNKMARTIGFFYTLFLHCLVFLVLYKLAWSESMERDCATFCAKKFADHLHKFHENDNGAAAGDLWQ;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000360264 P39880 + 0 24 632_687 -7 1517 retained Alternative sequence ID=VSP_017359;Note=In isoform 6 and isoform 7. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000360264 P39880 + 0 24 632_653 -7 1517 retained Alternative sequence ID=VSP_002310;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:1301999;Dbxref=PMID:1301999 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000360264 P39880 + 0 24 668_1505 -7 1517 retained Alternative sequence ID=VSP_045926;Note=In isoform 11. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000360264 P39880 + 0 24 5_5 -7 1517 retained Sequence conflict Note=A->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000360264 P39880 + 0 24 145_145 -7 1517 retained Sequence conflict Note=K->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000360264 P39880 + 0 24 260_260 -7 1517 retained Sequence conflict Note=A->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000360264 P39880 + 0 24 704_705 -7 1517 retained Sequence conflict Note=DA->EP;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000360264 P39880 + 0 24 844_844 -7 1517 retained Sequence conflict Note=E->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000360264 P39880 + 0 24 1436_1436 -7 1517 retained Sequence conflict Note=S->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000425244 P39880 + 12 22 1_1505 372 633 not_retained Chain ID=PRO_0000202393;Note=Homeobox protein cut-like 1 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000425244 P39880 + 12 22 542_629 372 633 retained DNA binding Note=CUT 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00374 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000425244 P39880 + 12 22 934_1021 372 633 retained DNA binding Note=CUT 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00374 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000425244 P39880 + 12 22 1117_1204 372 633 retained DNA binding Note=CUT 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00374 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000425244 P39880 + 12 22 1244_1303 372 633 retained DNA binding Note=Homeobox;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00108 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000425244 P39880 + 12 22 56_407 372 633 not_retained Coiled coil Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000425244 P39880 + 12 22 1406_1438 372 633 retained Compositional bias Note=Ala-rich Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000425244 P39880 + 12 22 763_763 372 633 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:20068231;Dbxref=PMID:20068231 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000425244 P39880 + 12 22 909_909 372 633 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P53565 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000425244 P39880 + 12 22 1059_1059 372 633 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000425244 P39880 + 12 22 1069_1069 372 633 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P53565 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000425244 P39880 + 12 22 1270_1270 372 633 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000425244 P39880 + 12 22 1337_1337 372 633 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P53564 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000425244 P39880 + 12 22 1455_1455 372 633 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000425244 P39880 + 12 22 1486_1486 372 633 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000425244 P39880 + 12 22 1496_1496 372 633 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P53564 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000425244 P39880 + 12 22 785_785 372 633 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 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000425244 P39880 + 12 22 811_811 372 633 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:25772364,ECO:0000244|PubMed:28112733;Dbxref=PMID:25772364,PMID:28112733 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000425244 P39880 + 12 22 842_842 372 633 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 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000425244 P39880 + 12 22 1284_1284 372 633 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 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000425244 P39880 + 12 22 1_10 372 633 not_retained Alternative sequence ID=VSP_015747;Note=In isoform 3 and isoform 11. MLCVAGARLK->MAANVGSMFQYWKRFDLQQLQ;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000425244 P39880 + 12 22 90_135 372 633 not_retained Alternative sequence ID=VSP_045924;Note=In isoform 11. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000425244 P39880 + 12 22 408_509 372 633 retained Alternative sequence ID=VSP_017358;Note=In isoform 5 and isoform 7. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000425244 P39880 + 12 22 409_667 372 633 retained Alternative sequence ID=VSP_045925;Note=In isoform 11. SARRKGKDQPESRRPGSLPAPPPSQLPRNPGEQASNTNGTHQFSPAGLSQDFFSSSLASPSLPLASTGKFALNSLLQRQLMQSFYSKAMQEAGSTSMIFSTGPYSTNSISSQSPLQQSPDVNGMAPSPSQSESAGSVSEGEEMDTAEIARQVKEQLIKHNIGQRIFGHYVLGLSQGSVSEILARPKPWNKLTVRGKEPFHKMKQFLSDEQNILALRSIQGRQRENPGQSLNRLFQEVPKRRNGSEGNITTRIRASETGS->RCAELQVRITEAVATATEQRELIARLEQDLSIIQSIQRPDAEGAAEHRLEKIPEPIKEATALFYGPAAPASGALPEGQVDSLLSIISSQRERFRARNQELEAENRLAQHTLQALQSELDSLRADNIKLFEKIKFLQSYPGRGSGSDDTELRYSSQYEERLDPFSSFSKRERQRKYLSLSPWDKATLSMGRLVLSNKMARTIGFFYTLFLHCLVFLVLYKLAWSESMERDCATFCAKKFADHLHKFHENDNGAAAGDLWQ;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000425244 P39880 + 12 22 632_687 372 633 retained Alternative sequence ID=VSP_017359;Note=In isoform 6 and isoform 7. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000425244 P39880 + 12 22 632_653 372 633 retained Alternative sequence ID=VSP_002310;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:1301999;Dbxref=PMID:1301999 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000425244 P39880 + 12 22 668_1505 372 633 retained Alternative sequence ID=VSP_045926;Note=In isoform 11. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000425244 P39880 + 12 22 5_5 372 633 not_retained Sequence conflict Note=A->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000425244 P39880 + 12 22 145_145 372 633 not_retained Sequence conflict Note=K->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000425244 P39880 + 12 22 260_260 372 633 not_retained Sequence conflict Note=A->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000425244 P39880 + 12 22 704_705 372 633 retained Sequence conflict Note=DA->EP;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000425244 P39880 + 12 22 844_844 372 633 retained Sequence conflict Note=E->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000425244 P39880 + 12 22 1436_1436 372 633 retained Sequence conflict Note=S->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000292535 P39880 + 0 24 1_1505 -13 1506 retained Chain ID=PRO_0000202393;Note=Homeobox protein cut-like 1 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000292535 P39880 + 0 24 542_629 -13 1506 retained DNA binding Note=CUT 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00374 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000292535 P39880 + 0 24 934_1021 -13 1506 retained DNA binding Note=CUT 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00374 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000292535 P39880 + 0 24 1117_1204 -13 1506 retained DNA binding Note=CUT 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00374 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000292535 P39880 + 0 24 1244_1303 -13 1506 retained DNA binding Note=Homeobox;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00108 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000292535 P39880 + 0 24 56_407 -13 1506 retained Coiled coil Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000292535 P39880 + 0 24 1406_1438 -13 1506 retained Compositional bias Note=Ala-rich Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000292535 P39880 + 0 24 763_763 -13 1506 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:20068231;Dbxref=PMID:20068231 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000292535 P39880 + 0 24 909_909 -13 1506 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P53565 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000292535 P39880 + 0 24 1059_1059 -13 1506 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000292535 P39880 + 0 24 1069_1069 -13 1506 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P53565 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000292535 P39880 + 0 24 1270_1270 -13 1506 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000292535 P39880 + 0 24 1337_1337 -13 1506 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P53564 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000292535 P39880 + 0 24 1455_1455 -13 1506 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000292535 P39880 + 0 24 1486_1486 -13 1506 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000292535 P39880 + 0 24 1496_1496 -13 1506 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P53564 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000292535 P39880 + 0 24 785_785 -13 1506 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 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000292535 P39880 + 0 24 811_811 -13 1506 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:25772364,ECO:0000244|PubMed:28112733;Dbxref=PMID:25772364,PMID:28112733 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000292535 P39880 + 0 24 842_842 -13 1506 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 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000292535 P39880 + 0 24 1284_1284 -13 1506 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 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000292535 P39880 + 0 24 1_10 -13 1506 retained Alternative sequence ID=VSP_015747;Note=In isoform 3 and isoform 11. MLCVAGARLK->MAANVGSMFQYWKRFDLQQLQ;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000292535 P39880 + 0 24 90_135 -13 1506 retained Alternative sequence ID=VSP_045924;Note=In isoform 11. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000292535 P39880 + 0 24 408_509 -13 1506 retained Alternative sequence ID=VSP_017358;Note=In isoform 5 and isoform 7. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000292535 P39880 + 0 24 409_667 -13 1506 retained Alternative sequence ID=VSP_045925;Note=In isoform 11. SARRKGKDQPESRRPGSLPAPPPSQLPRNPGEQASNTNGTHQFSPAGLSQDFFSSSLASPSLPLASTGKFALNSLLQRQLMQSFYSKAMQEAGSTSMIFSTGPYSTNSISSQSPLQQSPDVNGMAPSPSQSESAGSVSEGEEMDTAEIARQVKEQLIKHNIGQRIFGHYVLGLSQGSVSEILARPKPWNKLTVRGKEPFHKMKQFLSDEQNILALRSIQGRQRENPGQSLNRLFQEVPKRRNGSEGNITTRIRASETGS->RCAELQVRITEAVATATEQRELIARLEQDLSIIQSIQRPDAEGAAEHRLEKIPEPIKEATALFYGPAAPASGALPEGQVDSLLSIISSQRERFRARNQELEAENRLAQHTLQALQSELDSLRADNIKLFEKIKFLQSYPGRGSGSDDTELRYSSQYEERLDPFSSFSKRERQRKYLSLSPWDKATLSMGRLVLSNKMARTIGFFYTLFLHCLVFLVLYKLAWSESMERDCATFCAKKFADHLHKFHENDNGAAAGDLWQ;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000292535 P39880 + 0 24 632_687 -13 1506 retained Alternative sequence ID=VSP_017359;Note=In isoform 6 and isoform 7. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000292535 P39880 + 0 24 632_653 -13 1506 retained Alternative sequence ID=VSP_002310;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:1301999;Dbxref=PMID:1301999 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000292535 P39880 + 0 24 668_1505 -13 1506 retained Alternative sequence ID=VSP_045926;Note=In isoform 11. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000292535 P39880 + 0 24 5_5 -13 1506 retained Sequence conflict Note=A->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000292535 P39880 + 0 24 145_145 -13 1506 retained Sequence conflict Note=K->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000292535 P39880 + 0 24 260_260 -13 1506 retained Sequence conflict Note=A->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000292535 P39880 + 0 24 704_705 -13 1506 retained Sequence conflict Note=DA->EP;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000292535 P39880 + 0 24 844_844 -13 1506 retained Sequence conflict Note=E->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000292535 P39880 + 0 24 1436_1436 -13 1506 retained Sequence conflict Note=S->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000549414 P39880 + 0 23 1_1505 0 1484 retained Chain ID=PRO_0000202393;Note=Homeobox protein cut-like 1 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000549414 P39880 + 0 23 542_629 0 1484 retained DNA binding Note=CUT 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00374 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000549414 P39880 + 0 23 934_1021 0 1484 retained DNA binding Note=CUT 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00374 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000549414 P39880 + 0 23 1117_1204 0 1484 retained DNA binding Note=CUT 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00374 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000549414 P39880 + 0 23 1244_1303 0 1484 retained DNA binding Note=Homeobox;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00108 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000549414 P39880 + 0 23 56_407 0 1484 retained Coiled coil Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000549414 P39880 + 0 23 1406_1438 0 1484 retained Compositional bias Note=Ala-rich Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000549414 P39880 + 0 23 763_763 0 1484 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:20068231;Dbxref=PMID:20068231 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000549414 P39880 + 0 23 909_909 0 1484 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P53565 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000549414 P39880 + 0 23 1059_1059 0 1484 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000549414 P39880 + 0 23 1069_1069 0 1484 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P53565 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000549414 P39880 + 0 23 1270_1270 0 1484 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000549414 P39880 + 0 23 1337_1337 0 1484 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P53564 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000549414 P39880 + 0 23 1455_1455 0 1484 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000549414 P39880 + 0 23 1486_1486 0 1484 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000549414 P39880 + 0 23 1496_1496 0 1484 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P53564 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000549414 P39880 + 0 23 785_785 0 1484 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 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000549414 P39880 + 0 23 811_811 0 1484 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:25772364,ECO:0000244|PubMed:28112733;Dbxref=PMID:25772364,PMID:28112733 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000549414 P39880 + 0 23 842_842 0 1484 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 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000549414 P39880 + 0 23 1284_1284 0 1484 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 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000549414 P39880 + 0 23 1_10 0 1484 retained Alternative sequence ID=VSP_015747;Note=In isoform 3 and isoform 11. MLCVAGARLK->MAANVGSMFQYWKRFDLQQLQ;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000549414 P39880 + 0 23 90_135 0 1484 retained Alternative sequence ID=VSP_045924;Note=In isoform 11. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000549414 P39880 + 0 23 408_509 0 1484 retained Alternative sequence ID=VSP_017358;Note=In isoform 5 and isoform 7. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000549414 P39880 + 0 23 409_667 0 1484 retained Alternative sequence ID=VSP_045925;Note=In isoform 11. SARRKGKDQPESRRPGSLPAPPPSQLPRNPGEQASNTNGTHQFSPAGLSQDFFSSSLASPSLPLASTGKFALNSLLQRQLMQSFYSKAMQEAGSTSMIFSTGPYSTNSISSQSPLQQSPDVNGMAPSPSQSESAGSVSEGEEMDTAEIARQVKEQLIKHNIGQRIFGHYVLGLSQGSVSEILARPKPWNKLTVRGKEPFHKMKQFLSDEQNILALRSIQGRQRENPGQSLNRLFQEVPKRRNGSEGNITTRIRASETGS->RCAELQVRITEAVATATEQRELIARLEQDLSIIQSIQRPDAEGAAEHRLEKIPEPIKEATALFYGPAAPASGALPEGQVDSLLSIISSQRERFRARNQELEAENRLAQHTLQALQSELDSLRADNIKLFEKIKFLQSYPGRGSGSDDTELRYSSQYEERLDPFSSFSKRERQRKYLSLSPWDKATLSMGRLVLSNKMARTIGFFYTLFLHCLVFLVLYKLAWSESMERDCATFCAKKFADHLHKFHENDNGAAAGDLWQ;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000549414 P39880 + 0 23 632_687 0 1484 retained Alternative sequence ID=VSP_017359;Note=In isoform 6 and isoform 7. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000549414 P39880 + 0 23 632_653 0 1484 retained Alternative sequence ID=VSP_002310;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:1301999;Dbxref=PMID:1301999 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000549414 P39880 + 0 23 668_1505 0 1484 retained Alternative sequence ID=VSP_045926;Note=In isoform 11. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000549414 P39880 + 0 23 5_5 0 1484 retained Sequence conflict Note=A->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000549414 P39880 + 0 23 145_145 0 1484 retained Sequence conflict Note=K->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000549414 P39880 + 0 23 260_260 0 1484 retained Sequence conflict Note=A->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000549414 P39880 + 0 23 704_705 0 1484 retained Sequence conflict Note=DA->EP;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000549414 P39880 + 0 23 844_844 0 1484 retained Sequence conflict Note=E->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000549414 P39880 + 0 23 1436_1436 0 1484 retained Sequence conflict Note=S->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000556210 P39880 + 0 22 1_1505 0 1348 retained Chain ID=PRO_0000202393;Note=Homeobox protein cut-like 1 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000556210 P39880 + 0 22 542_629 0 1348 retained DNA binding Note=CUT 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00374 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000556210 P39880 + 0 22 934_1021 0 1348 retained DNA binding Note=CUT 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00374 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000556210 P39880 + 0 22 1117_1204 0 1348 retained DNA binding Note=CUT 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00374 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000556210 P39880 + 0 22 1244_1303 0 1348 retained DNA binding Note=Homeobox;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00108 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000556210 P39880 + 0 22 56_407 0 1348 retained Coiled coil Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000556210 P39880 + 0 22 1406_1438 0 1348 retained Compositional bias Note=Ala-rich Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000556210 P39880 + 0 22 763_763 0 1348 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:20068231;Dbxref=PMID:20068231 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000556210 P39880 + 0 22 909_909 0 1348 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P53565 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000556210 P39880 + 0 22 1059_1059 0 1348 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000556210 P39880 + 0 22 1069_1069 0 1348 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P53565 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000556210 P39880 + 0 22 1270_1270 0 1348 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000556210 P39880 + 0 22 1337_1337 0 1348 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P53564 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000556210 P39880 + 0 22 1455_1455 0 1348 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000556210 P39880 + 0 22 1486_1486 0 1348 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000556210 P39880 + 0 22 1496_1496 0 1348 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P53564 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000556210 P39880 + 0 22 785_785 0 1348 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 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000556210 P39880 + 0 22 811_811 0 1348 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:25772364,ECO:0000244|PubMed:28112733;Dbxref=PMID:25772364,PMID:28112733 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000556210 P39880 + 0 22 842_842 0 1348 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 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000556210 P39880 + 0 22 1284_1284 0 1348 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 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000556210 P39880 + 0 22 1_10 0 1348 retained Alternative sequence ID=VSP_015747;Note=In isoform 3 and isoform 11. MLCVAGARLK->MAANVGSMFQYWKRFDLQQLQ;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000556210 P39880 + 0 22 90_135 0 1348 retained Alternative sequence ID=VSP_045924;Note=In isoform 11. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000556210 P39880 + 0 22 408_509 0 1348 retained Alternative sequence ID=VSP_017358;Note=In isoform 5 and isoform 7. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000556210 P39880 + 0 22 409_667 0 1348 retained Alternative sequence ID=VSP_045925;Note=In isoform 11. SARRKGKDQPESRRPGSLPAPPPSQLPRNPGEQASNTNGTHQFSPAGLSQDFFSSSLASPSLPLASTGKFALNSLLQRQLMQSFYSKAMQEAGSTSMIFSTGPYSTNSISSQSPLQQSPDVNGMAPSPSQSESAGSVSEGEEMDTAEIARQVKEQLIKHNIGQRIFGHYVLGLSQGSVSEILARPKPWNKLTVRGKEPFHKMKQFLSDEQNILALRSIQGRQRENPGQSLNRLFQEVPKRRNGSEGNITTRIRASETGS->RCAELQVRITEAVATATEQRELIARLEQDLSIIQSIQRPDAEGAAEHRLEKIPEPIKEATALFYGPAAPASGALPEGQVDSLLSIISSQRERFRARNQELEAENRLAQHTLQALQSELDSLRADNIKLFEKIKFLQSYPGRGSGSDDTELRYSSQYEERLDPFSSFSKRERQRKYLSLSPWDKATLSMGRLVLSNKMARTIGFFYTLFLHCLVFLVLYKLAWSESMERDCATFCAKKFADHLHKFHENDNGAAAGDLWQ;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000556210 P39880 + 0 22 632_687 0 1348 retained Alternative sequence ID=VSP_017359;Note=In isoform 6 and isoform 7. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000556210 P39880 + 0 22 632_653 0 1348 retained Alternative sequence ID=VSP_002310;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:1301999;Dbxref=PMID:1301999 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000556210 P39880 + 0 22 668_1505 0 1348 retained Alternative sequence ID=VSP_045926;Note=In isoform 11. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000556210 P39880 + 0 22 5_5 0 1348 retained Sequence conflict Note=A->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000556210 P39880 + 0 22 145_145 0 1348 retained Sequence conflict Note=K->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000556210 P39880 + 0 22 260_260 0 1348 retained Sequence conflict Note=A->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000556210 P39880 + 0 22 704_705 0 1348 retained Sequence conflict Note=DA->EP;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000556210 P39880 + 0 22 844_844 0 1348 retained Sequence conflict Note=E->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000556210 P39880 + 0 22 1436_1436 0 1348 retained Sequence conflict Note=S->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000550008 P39880 + 0 22 1_1505 0 1450 retained Chain ID=PRO_0000202393;Note=Homeobox protein cut-like 1 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000550008 P39880 + 0 22 542_629 0 1450 retained DNA binding Note=CUT 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00374 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000550008 P39880 + 0 22 934_1021 0 1450 retained DNA binding Note=CUT 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00374 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000550008 P39880 + 0 22 1117_1204 0 1450 retained DNA binding Note=CUT 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00374 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000550008 P39880 + 0 22 1244_1303 0 1450 retained DNA binding Note=Homeobox;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00108 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000550008 P39880 + 0 22 56_407 0 1450 retained Coiled coil Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000550008 P39880 + 0 22 1406_1438 0 1450 retained Compositional bias Note=Ala-rich Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000550008 P39880 + 0 22 763_763 0 1450 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:20068231;Dbxref=PMID:20068231 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000550008 P39880 + 0 22 909_909 0 1450 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P53565 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000550008 P39880 + 0 22 1059_1059 0 1450 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000550008 P39880 + 0 22 1069_1069 0 1450 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P53565 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000550008 P39880 + 0 22 1270_1270 0 1450 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000550008 P39880 + 0 22 1337_1337 0 1450 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P53564 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000550008 P39880 + 0 22 1455_1455 0 1450 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000550008 P39880 + 0 22 1486_1486 0 1450 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000550008 P39880 + 0 22 1496_1496 0 1450 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P53564 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000550008 P39880 + 0 22 785_785 0 1450 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 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000550008 P39880 + 0 22 811_811 0 1450 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:25772364,ECO:0000244|PubMed:28112733;Dbxref=PMID:25772364,PMID:28112733 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000550008 P39880 + 0 22 842_842 0 1450 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 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000550008 P39880 + 0 22 1284_1284 0 1450 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 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000550008 P39880 + 0 22 1_10 0 1450 retained Alternative sequence ID=VSP_015747;Note=In isoform 3 and isoform 11. MLCVAGARLK->MAANVGSMFQYWKRFDLQQLQ;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000550008 P39880 + 0 22 90_135 0 1450 retained Alternative sequence ID=VSP_045924;Note=In isoform 11. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000550008 P39880 + 0 22 408_509 0 1450 retained Alternative sequence ID=VSP_017358;Note=In isoform 5 and isoform 7. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000550008 P39880 + 0 22 409_667 0 1450 retained Alternative sequence ID=VSP_045925;Note=In isoform 11. SARRKGKDQPESRRPGSLPAPPPSQLPRNPGEQASNTNGTHQFSPAGLSQDFFSSSLASPSLPLASTGKFALNSLLQRQLMQSFYSKAMQEAGSTSMIFSTGPYSTNSISSQSPLQQSPDVNGMAPSPSQSESAGSVSEGEEMDTAEIARQVKEQLIKHNIGQRIFGHYVLGLSQGSVSEILARPKPWNKLTVRGKEPFHKMKQFLSDEQNILALRSIQGRQRENPGQSLNRLFQEVPKRRNGSEGNITTRIRASETGS->RCAELQVRITEAVATATEQRELIARLEQDLSIIQSIQRPDAEGAAEHRLEKIPEPIKEATALFYGPAAPASGALPEGQVDSLLSIISSQRERFRARNQELEAENRLAQHTLQALQSELDSLRADNIKLFEKIKFLQSYPGRGSGSDDTELRYSSQYEERLDPFSSFSKRERQRKYLSLSPWDKATLSMGRLVLSNKMARTIGFFYTLFLHCLVFLVLYKLAWSESMERDCATFCAKKFADHLHKFHENDNGAAAGDLWQ;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000550008 P39880 + 0 22 632_687 0 1450 retained Alternative sequence ID=VSP_017359;Note=In isoform 6 and isoform 7. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000550008 P39880 + 0 22 632_653 0 1450 retained Alternative sequence ID=VSP_002310;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:1301999;Dbxref=PMID:1301999 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000550008 P39880 + 0 22 668_1505 0 1450 retained Alternative sequence ID=VSP_045926;Note=In isoform 11. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000550008 P39880 + 0 22 5_5 0 1450 retained Sequence conflict Note=A->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000550008 P39880 + 0 22 145_145 0 1450 retained Sequence conflict Note=K->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000550008 P39880 + 0 22 260_260 0 1450 retained Sequence conflict Note=A->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000550008 P39880 + 0 22 704_705 0 1450 retained Sequence conflict Note=DA->EP;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000550008 P39880 + 0 22 844_844 0 1450 retained Sequence conflict Note=E->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000550008 P39880 + 0 22 1436_1436 0 1450 retained Sequence conflict Note=S->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000546411 P39880 + 0 24 1_1505 0 1404 retained Chain ID=PRO_0000202393;Note=Homeobox protein cut-like 1 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000546411 P39880 + 0 24 542_629 0 1404 retained DNA binding Note=CUT 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00374 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000546411 P39880 + 0 24 934_1021 0 1404 retained DNA binding Note=CUT 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00374 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000546411 P39880 + 0 24 1117_1204 0 1404 retained DNA binding Note=CUT 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00374 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000546411 P39880 + 0 24 1244_1303 0 1404 retained DNA binding Note=Homeobox;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00108 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000546411 P39880 + 0 24 56_407 0 1404 retained Coiled coil Ontology_term=ECO:0000255;evidence=ECO:0000255 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000546411 P39880 + 0 24 1406_1438 0 1404 retained Compositional bias Note=Ala-rich Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000546411 P39880 + 0 24 763_763 0 1404 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:20068231;Dbxref=PMID:20068231 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000546411 P39880 + 0 24 909_909 0 1404 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P53565 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000546411 P39880 + 0 24 1059_1059 0 1404 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000546411 P39880 + 0 24 1069_1069 0 1404 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P53565 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000546411 P39880 + 0 24 1270_1270 0 1404 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000546411 P39880 + 0 24 1337_1337 0 1404 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P53564 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000546411 P39880 + 0 24 1455_1455 0 1404 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000546411 P39880 + 0 24 1486_1486 0 1404 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000546411 P39880 + 0 24 1496_1496 0 1404 retained Modified residue Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P53564 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000546411 P39880 + 0 24 785_785 0 1404 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 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000546411 P39880 + 0 24 811_811 0 1404 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:25772364,ECO:0000244|PubMed:28112733;Dbxref=PMID:25772364,PMID:28112733 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000546411 P39880 + 0 24 842_842 0 1404 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 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000546411 P39880 + 0 24 1284_1284 0 1404 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 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000546411 P39880 + 0 24 1_10 0 1404 retained Alternative sequence ID=VSP_015747;Note=In isoform 3 and isoform 11. MLCVAGARLK->MAANVGSMFQYWKRFDLQQLQ;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000546411 P39880 + 0 24 90_135 0 1404 retained Alternative sequence ID=VSP_045924;Note=In isoform 11. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Tgene 5UTR-3CDS DB106415 ChiTaRS STK17B chr2:197036056 CUX1 chr7:101916636 ENST00000546411 P39880 + 0 24 408_509 0 1404 retained Alternative sequence ID=VSP_017358;Note=In isoform 5 and isoform 7