Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
exon_skip_104213 | chr3 | 152445516:152445539:152447725:152447773:152455542:152455577 | 152447725:152447773 |
exon_skip_109087 | chr3 | 152445282:152445539:152446704:152446757:152447620:152447773 | 152446704:152446757 |
exon_skip_1241 | chr3 | 152415058:152415111:152432717:152432920:152445282:152445474 | 152432717:152432920 |
exon_skip_138088 | chr3 | 152415058:152415111:152432717:152432920:152445282:152445342 | 152432717:152432920 |
exon_skip_182844 | chr3 | 152455542:152455577:152456267:152456361:152459271:152459302 | 152456267:152456361 |
exon_skip_205444 | chr3 | 152456267:152456361:152459271:152459345:152462385:152463159 | 152459271:152459345 |
exon_skip_206186 | chr3 | 152445437:152445539:152446704:152446757:152447620:152447638 | 152446704:152446757 |
exon_skip_210513 | chr3 | 152445516:152445539:152447620:152447773:152455542:152455577 | 152447620:152447773 |
exon_skip_212494 | chr3 | 152447620:152447773:152456267:152456361:152459271:152459302 | 152456267:152456361 |
exon_skip_242579 | chr3 | 152269103:152269407:152335111:152335230:152414941:152415109 | 152335111:152335230 |
exon_skip_269045 | chr3 | 152447620:152447773:152455542:152455577:152456267:152456361 | 152455542:152455577 |
exon_skip_273912 | chr3 | 152445516:152445539:152446704:152446757:152447620:152447773 | 152446704:152446757 |
exon_skip_284944 | chr3 | 152445282:152445539:152447725:152447773:152455542:152455577 | 152447725:152447773 |
exon_skip_296256 | chr3 | 152432717:152432920:152445282:152445539:152447620:152447638 | 152445282:152445539 |
exon_skip_31188 | chr3 | 152268963:152269092:152299405:152300367:152414941:152415109 | 152299405:152300367 |
exon_skip_33422 | chr3 | 152268963:152269092:152299405:152300367:152414941:152415108 | 152299405:152300367 |
exon_skip_47247 | chr3 | 152447693:152447773:152455542:152455577:152456267:152456361 | 152455542:152455577 |
exon_skip_54836 | chr3 | 152447620:152447773:152455542:152455577:152459271:152459302 | 152455542:152455577 |
exon_skip_57621 | chr3 | 152447693:152447773:152456267:152456361:152459271:152459302 | 152456267:152456361 |
exon_skip_83467 | chr3 | 152447693:152447773:152455542:152455577:152459271:152459302 | 152455542:152455577 |
exon_skip_83650 | chr3 | 152456267:152456361:152458130:152458193:152459271:152459302 | 152458130:152458193 |
exon_skip_90809 | chr3 | 152445282:152445539:152447620:152447773:152455542:152455577 | 152447620:152447773 |
UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
Q9NR56 | 115 | 183 | 116 | 183 | Alternative sequence | ID=VSP_006429;Note=In isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10970838;Dbxref=PMID:10970838 |
Q9NR56 | 115 | 183 | 116 | 183 | Alternative sequence | ID=VSP_006429;Note=In isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10970838;Dbxref=PMID:10970838 |
Q9NR56 | 115 | 183 | 176 | 178 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5U6L |
Q9NR56 | 115 | 183 | 176 | 178 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5U6L |
Q9NR56 | 115 | 183 | 181 | 184 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3D2Q |
Q9NR56 | 115 | 183 | 181 | 184 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3D2Q |
Q9NR56 | 115 | 183 | 1 | 388 | Chain | ID=PRO_0000089178;Note=Muscleblind-like protein 1 |
Q9NR56 | 115 | 183 | 1 | 388 | Chain | ID=PRO_0000089178;Note=Muscleblind-like protein 1 |
Q9NR56 | 115 | 183 | 171 | 173 | Natural variant | ID=VAR_076509;Note=In DM1%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27222292;Dbxref=PMID:27222292 |
Q9NR56 | 115 | 183 | 171 | 173 | Natural variant | ID=VAR_076509;Note=In DM1%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27222292;Dbxref=PMID:27222292 |
Q9NR56 | 115 | 183 | 179 | 207 | Zinc finger | Note=C3H1-type 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00723 |
Q9NR56 | 115 | 183 | 179 | 207 | Zinc finger | Note=C3H1-type 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00723 |
Q9NR56 | 269 | 287 | 270 | 370 | Alternative sequence | ID=VSP_044903;Note=In isoform 7. TQSAVKSLKRPLEATFDLGIPQAVLPPLPKRPALEKTNGATAVFNTGIFQYQQALANMQLQQHTAFLPPVPMVHGATPATVSAATTSATSVPFAATATANQ->FPWCTVLRQPLCPQQQHLPQVFPSLQQPQPTSPILDASTLLGATSCPAAAGKM;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.6 |
Q9NR56 | 269 | 287 | 270 | 370 | Alternative sequence | ID=VSP_044903;Note=In isoform 7. TQSAVKSLKRPLEATFDLGIPQAVLPPLPKRPALEKTNGATAVFNTGIFQYQQALANMQLQQHTAFLPPVPMVHGATPATVSAATTSATSVPFAATATANQ->FPWCTVLRQPLCPQQQHLPQVFPSLQQPQPTSPILDASTLLGATSCPAAAGKM;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.6 |
Q9NR56 | 269 | 287 | 270 | 287 | Alternative sequence | ID=VSP_006430;Note=In isoform 2%2C isoform 3%2C isoform 4%2C isoform 5 and isoform 6. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10970838,ECO:0000303|PubMed:11590133,ECO:000030 |
Q9NR56 | 269 | 287 | 270 | 287 | Alternative sequence | ID=VSP_006430;Note=In isoform 2%2C isoform 3%2C isoform 4%2C isoform 5 and isoform 6. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10970838,ECO:0000303|PubMed:11590133,ECO:000030 |
Q9NR56 | 269 | 287 | 1 | 388 | Chain | ID=PRO_0000089178;Note=Muscleblind-like protein 1 |
Q9NR56 | 269 | 287 | 1 | 388 | Chain | ID=PRO_0000089178;Note=Muscleblind-like protein 1 |
UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
Q9NR56 | 115 | 183 | 116 | 183 | Alternative sequence | ID=VSP_006429;Note=In isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10970838;Dbxref=PMID:10970838 |
Q9NR56 | 115 | 183 | 116 | 183 | Alternative sequence | ID=VSP_006429;Note=In isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10970838;Dbxref=PMID:10970838 |
Q9NR56 | 115 | 183 | 176 | 178 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5U6L |
Q9NR56 | 115 | 183 | 176 | 178 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5U6L |
Q9NR56 | 115 | 183 | 181 | 184 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3D2Q |
Q9NR56 | 115 | 183 | 181 | 184 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3D2Q |
Q9NR56 | 115 | 183 | 1 | 388 | Chain | ID=PRO_0000089178;Note=Muscleblind-like protein 1 |
Q9NR56 | 115 | 183 | 1 | 388 | Chain | ID=PRO_0000089178;Note=Muscleblind-like protein 1 |
Q9NR56 | 115 | 183 | 171 | 173 | Natural variant | ID=VAR_076509;Note=In DM1%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27222292;Dbxref=PMID:27222292 |
Q9NR56 | 115 | 183 | 171 | 173 | Natural variant | ID=VAR_076509;Note=In DM1%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27222292;Dbxref=PMID:27222292 |
Q9NR56 | 115 | 183 | 179 | 207 | Zinc finger | Note=C3H1-type 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00723 |
Q9NR56 | 115 | 183 | 179 | 207 | Zinc finger | Note=C3H1-type 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00723 |
Q9NR56 | 269 | 287 | 270 | 370 | Alternative sequence | ID=VSP_044903;Note=In isoform 7. TQSAVKSLKRPLEATFDLGIPQAVLPPLPKRPALEKTNGATAVFNTGIFQYQQALANMQLQQHTAFLPPVPMVHGATPATVSAATTSATSVPFAATATANQ->FPWCTVLRQPLCPQQQHLPQVFPSLQQPQPTSPILDASTLLGATSCPAAAGKM;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.6 |
Q9NR56 | 269 | 287 | 270 | 370 | Alternative sequence | ID=VSP_044903;Note=In isoform 7. TQSAVKSLKRPLEATFDLGIPQAVLPPLPKRPALEKTNGATAVFNTGIFQYQQALANMQLQQHTAFLPPVPMVHGATPATVSAATTSATSVPFAATATANQ->FPWCTVLRQPLCPQQQHLPQVFPSLQQPQPTSPILDASTLLGATSCPAAAGKM;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.6 |
Q9NR56 | 269 | 287 | 270 | 287 | Alternative sequence | ID=VSP_006430;Note=In isoform 2%2C isoform 3%2C isoform 4%2C isoform 5 and isoform 6. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10970838,ECO:0000303|PubMed:11590133,ECO:000030 |
Q9NR56 | 269 | 287 | 270 | 287 | Alternative sequence | ID=VSP_006430;Note=In isoform 2%2C isoform 3%2C isoform 4%2C isoform 5 and isoform 6. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10970838,ECO:0000303|PubMed:11590133,ECO:000030 |
Q9NR56 | 269 | 287 | 1 | 388 | Chain | ID=PRO_0000089178;Note=Muscleblind-like protein 1 |
Q9NR56 | 269 | 287 | 1 | 388 | Chain | ID=PRO_0000089178;Note=Muscleblind-like protein 1 |
UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
Q9NR56 | 115 | 183 | 116 | 183 | Alternative sequence | ID=VSP_006429;Note=In isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10970838;Dbxref=PMID:10970838 |
Q9NR56 | 115 | 183 | 116 | 183 | Alternative sequence | ID=VSP_006429;Note=In isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10970838;Dbxref=PMID:10970838 |
Q9NR56 | 115 | 183 | 176 | 178 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5U6L |
Q9NR56 | 115 | 183 | 176 | 178 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5U6L |
Q9NR56 | 115 | 183 | 181 | 184 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3D2Q |
Q9NR56 | 115 | 183 | 181 | 184 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3D2Q |
Q9NR56 | 115 | 183 | 1 | 388 | Chain | ID=PRO_0000089178;Note=Muscleblind-like protein 1 |
Q9NR56 | 115 | 183 | 1 | 388 | Chain | ID=PRO_0000089178;Note=Muscleblind-like protein 1 |
Q9NR56 | 115 | 183 | 171 | 173 | Natural variant | ID=VAR_076509;Note=In DM1%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27222292;Dbxref=PMID:27222292 |
Q9NR56 | 115 | 183 | 171 | 173 | Natural variant | ID=VAR_076509;Note=In DM1%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27222292;Dbxref=PMID:27222292 |
Q9NR56 | 115 | 183 | 179 | 207 | Zinc finger | Note=C3H1-type 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00723 |
Q9NR56 | 115 | 183 | 179 | 207 | Zinc finger | Note=C3H1-type 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00723 |
Q9NR56 | 269 | 287 | 270 | 370 | Alternative sequence | ID=VSP_044903;Note=In isoform 7. TQSAVKSLKRPLEATFDLGIPQAVLPPLPKRPALEKTNGATAVFNTGIFQYQQALANMQLQQHTAFLPPVPMVHGATPATVSAATTSATSVPFAATATANQ->FPWCTVLRQPLCPQQQHLPQVFPSLQQPQPTSPILDASTLLGATSCPAAAGKM;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.6 |
Q9NR56 | 269 | 287 | 270 | 370 | Alternative sequence | ID=VSP_044903;Note=In isoform 7. TQSAVKSLKRPLEATFDLGIPQAVLPPLPKRPALEKTNGATAVFNTGIFQYQQALANMQLQQHTAFLPPVPMVHGATPATVSAATTSATSVPFAATATANQ->FPWCTVLRQPLCPQQQHLPQVFPSLQQPQPTSPILDASTLLGATSCPAAAGKM;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.6 |
Q9NR56 | 269 | 287 | 270 | 287 | Alternative sequence | ID=VSP_006430;Note=In isoform 2%2C isoform 3%2C isoform 4%2C isoform 5 and isoform 6. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10970838,ECO:0000303|PubMed:11590133,ECO:000030 |
Q9NR56 | 269 | 287 | 270 | 287 | Alternative sequence | ID=VSP_006430;Note=In isoform 2%2C isoform 3%2C isoform 4%2C isoform 5 and isoform 6. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10970838,ECO:0000303|PubMed:11590133,ECO:000030 |
Q9NR56 | 269 | 287 | 1 | 388 | Chain | ID=PRO_0000089178;Note=Muscleblind-like protein 1 |
Q9NR56 | 269 | 287 | 1 | 388 | Chain | ID=PRO_0000089178;Note=Muscleblind-like protein 1 |