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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for CD44 |
 Gene summary |
| Gene information | Gene symbol | CD44 | Gene ID | 960 |
| Gene name | CD44 molecule (Indian blood group) | |
| Synonyms | CDW44|CSPG8|ECMR-III|HCELL|HUTCH-I|IN|LHR|MC56|MDU2|MDU3|MIC4|Pgp1 | |
| Cytomap | 11p13 | |
| Type of gene | protein-coding | |
| Description | CD44 antigenGP90 lymphocyte homing/adhesion receptorHermes antigencell surface glycoprotein CD44chondroitin sulfate proteoglycan 8epicanextracellular matrix receptor IIIhematopoietic cell E- and L-selectin ligandheparan sulfate proteoglycanhoming | |
| Modification date | 20180527 | |
| UniProtAcc | P16070 | |
| Context | PubMed: CD44 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| CD44 | GO:0030214 | hyaluronan catabolic process | 17170110 |
| CD44 | GO:0033138 | positive regulation of peptidyl-serine phosphorylation | 17045821 |
| CD44 | GO:0043518 | negative regulation of DNA damage response, signal transduction by p53 class mediator | 17045821 |
| CD44 | GO:0044344 | cellular response to fibroblast growth factor stimulus | 19577615 |
| CD44 | GO:0050731 | positive regulation of peptidyl-tyrosine phosphorylation | 17045821 |
| CD44 | GO:0070374 | positive regulation of ERK1 and ERK2 cascade | 17045821 |
| CD44 | GO:1902166 | negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator | 17045821 |
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Exon skipping events across known transcript of Ensembl for CD44 from UCSC genome browser |
| Skipped exons in TCGA and GTEx based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Gene isoform structures and expression levels for CD44 |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for CD44 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_57854 | 11 | 35160852:35160917:35198121:35198287:35208378:35208447 | 35198121:35198287 | ENSG00000026508.12 | ENST00000425428.2 |
| exon_skip_57859 | 11 | 35198245:35198287:35201820:35201954:35208378:35208447 | 35201820:35201954 | ENSG00000026508.12 | ENST00000434472.2,ENST00000527889.1,ENST00000525211.1,ENST00000360158.4,ENST00000433354.2,ENST00000526000.1,ENST00000442151.2,ENST00000415148.2,ENST00000428726.2,ENST00000449691.2,ENST00000437706.2,ENST00000263398.6,ENST00000433892.2,ENST00000279452.6,ENS |
| exon_skip_57862 | 11 | 35201904:35201954:35208378:35208447:35211381:35211519 | 35208378:35208447 | ENSG00000026508.12 | ENST00000434472.2,ENST00000527889.1,ENST00000525211.1,ENST00000531873.1,ENST00000360158.4,ENST00000433354.2,ENST00000525209.1,ENST00000526000.1,ENST00000442151.2,ENST00000415148.2,ENST00000428726.2,ENST00000449691.2,ENST00000437706.2,ENST00000263398.6,ENS |
| exon_skip_57865 | 11 | 35208408:35208447:35211381:35211519:35236398:35236408 | 35211381:35211519 | ENSG00000026508.12 | ENST00000279452.6 |
| exon_skip_57867 | 11 | 35208408:35208447:35211381:35211612:35236398:35236408 | 35211381:35211612 | ENSG00000026508.12 | ENST00000425428.2,ENST00000442151.2,ENST00000263398.6 |
| exon_skip_57868 | 11 | 35208408:35208447:35211381:35211612:35240862:35240934 | 35211381:35211612 | ENSG00000026508.12 | ENST00000352818.4 |
| exon_skip_57892 | 11 | 35211381:35211519:35232792:35232996:35236398:35236408 | 35232792:35232996 | ENSG00000026508.12 | ENST00000526000.1 |
| exon_skip_57897 | 11 | 35211561:35211612:35218292:35218421:35219667:35219793 | 35218292:35218421 | ENSG00000026508.12 | ENST00000433354.2,ENST00000428726.2,ENST00000525685.1,ENST00000449691.2,ENST00000437706.2 |
| exon_skip_57922 | 11 | 35211561:35211612:35219667:35219793:35222628:35222742 | 35219667:35219793 | ENSG00000026508.12 | ENST00000415148.2 |
| exon_skip_57930 | 11 | 35211561:35211612:35219667:35219793:35229651:35229711 | 35219667:35219793 | ENSG00000026508.12 | ENST00000533222.1 |
| exon_skip_57933 | 11 | 35211561:35211612:35219667:35219793:35236398:35236408 | 35219667:35219793 | ENSG00000026508.12 | ENST00000525688.1 |
| exon_skip_57950 | 11 | 35211561:35211612:35219694:35219793:35222628:35222742 | 35219694:35219793 | ENSG00000026508.12 | ENST00000524922.1 |
| exon_skip_57965 | 11 | 35211561:35211612:35222628:35222742:35223214:35223278 | 35222628:35222742 | ENSG00000026508.12 | ENST00000534296.1 |
| exon_skip_57966 | 11 | 35211561:35211612:35222628:35222742:35223217:35223300 | 35222628:35222742 | ENSG00000026508.12 | ENST00000528455.1 |
| exon_skip_57992 | 11 | 35211561:35211612:35226058:35226187:35227658:35227790 | 35226058:35226187 | ENSG00000026508.12 | ENST00000531110.1 |
| exon_skip_58014 | 11 | 35211561:35211612:35229651:35229753:35231511:35231521 | 35229651:35229753 | ENSG00000026508.12 | ENST00000278385.6,ENST00000433892.2 |
| exon_skip_58022 | 11 | 35211561:35211612:35229651:35229756:35236398:35236461 | 35229651:35229756 | ENSG00000026508.12 | ENST00000360158.4 |
| exon_skip_58029 | 11 | 35211561:35211612:35231511:35231601:35232792:35232857 | 35231511:35231601 | ENSG00000026508.12 | ENST00000531873.1 |
| exon_skip_58035 | 11 | 35211561:35211612:35232792:35232996:35236398:35236408 | 35232792:35232996 | ENSG00000026508.12 | ENST00000434472.2 |
| exon_skip_58040 | 11 | 35211556:35211612:35236398:35236461:35240862:35240934 | 35236398:35236461 | ENSG00000026508.12 | ENST00000425428.2,ENST00000442151.2,ENST00000263398.6 |
| exon_skip_58049 | 11 | 35218382:35218421:35219667:35219793:35222628:35222742 | 35219667:35219793 | ENSG00000026508.12 | ENST00000433354.2,ENST00000428726.2,ENST00000449691.2,ENST00000437706.2 |
| exon_skip_58051 | 11 | 35218292:35218421:35219667:35219793:35229651:35229711 | 35219667:35219793 | ENSG00000026508.12 | ENST00000525685.1 |
| exon_skip_58067 | 11 | 35219694:35219793:35222628:35222742:35223214:35223278 | 35222628:35222742 | ENSG00000026508.12 | ENST00000433354.2,ENST00000525348.1 |
| exon_skip_58068 | 11 | 35219694:35219793:35222628:35222742:35223217:35223300 | 35222628:35222742 | ENSG00000026508.12 | ENST00000415148.2,ENST00000428726.2,ENST00000449691.2,ENST00000437706.2,ENST00000524922.1 |
| exon_skip_58112 | 11 | 35219694:35219793:35229651:35229753:35231511:35231521 | 35229651:35229753 | ENSG00000026508.12 | ENST00000533222.1,ENST00000525685.1 |
| exon_skip_58122 | 11 | 35222690:35222742:35223214:35223334:35226058:35226187 | 35223214:35223334 | ENSG00000026508.12 | ENST00000433354.2,ENST00000534296.1,ENST00000534082.1 |
| exon_skip_58127 | 11 | 35222690:35222742:35223217:35223334:35226058:35226187 | 35223217:35223334 | ENSG00000026508.12 | ENST00000415148.2,ENST00000428726.2,ENST00000437706.2 |
| exon_skip_58142 | 11 | 35223225:35223334:35226058:35226187:35227658:35227790 | 35226058:35226187 | ENSG00000026508.12 | ENST00000433354.2,ENST00000415148.2,ENST00000428726.2,ENST00000437706.2 |
| exon_skip_58143 | 11 | 35223225:35223334:35226058:35226187:35229651:35229711 | 35226058:35226187 | ENSG00000026508.12 | ENST00000528672.1 |
| exon_skip_58152 | 11 | 35223225:35223334:35227658:35227790:35229651:35229711 | 35227658:35227790 | ENSG00000026508.12 | ENST00000449691.2 |
| exon_skip_58161 | 11 | 35223167:35223334:35232792:35232996:35236398:35236408 | 35232792:35232996 | ENSG00000026508.12 | ENST00000525293.1 |
| exon_skip_58162 | 11 | 35226063:35226187:35227658:35227790:35229651:35229711 | 35227658:35227790 | ENSG00000026508.12 | ENST00000531110.1,ENST00000433354.2,ENST00000415148.2,ENST00000428726.2,ENST00000437706.2 |
| exon_skip_58164 | 11 | 35226063:35226187:35227661:35227790:35229651:35229711 | 35227661:35227790 | ENSG00000026508.12 | ENST00000526553.1 |
| exon_skip_58167 | 11 | 35226058:35226187:35229651:35229753:35231511:35231521 | 35229651:35229753 | ENSG00000026508.12 | ENST00000528672.1 |
| exon_skip_58191 | 11 | 35229683:35229753:35231511:35231601:35232792:35232857 | 35231511:35231601 | ENSG00000026508.12 | ENST00000533222.1,ENST00000415148.2,ENST00000428726.2,ENST00000449691.2,ENST00000528672.1,ENST00000433892.2 |
| exon_skip_58194 | 11 | 35229683:35229753:35231511:35231601:35236398:35236408 | 35231511:35231601 | ENSG00000026508.12 | ENST00000437706.2,ENST00000278385.6 |
| exon_skip_58204 | 11 | 35229651:35229756:35232792:35232996:35236398:35236461 | 35232792:35232996 | ENSG00000026508.12 | ENST00000433354.2 |
| exon_skip_58206 | 11 | 35231516:35231601:35232792:35232996:35236398:35236408 | 35232792:35232996 | ENSG00000026508.12 | ENST00000415148.2,ENST00000428726.2,ENST00000449691.2,ENST00000433892.2 |
| exon_skip_58212 | 11 | 35231511:35231601:35236398:35236461:35240862:35240934 | 35236398:35236461 | ENSG00000026508.12 | ENST00000437706.2,ENST00000278385.6 |
| exon_skip_58214 | 11 | 35232810:35232996:35236398:35236461:35240862:35240934 | 35236398:35236461 | ENSG00000026508.12 | ENST00000434472.2,ENST00000525293.1,ENST00000433354.2,ENST00000415148.2,ENST00000428726.2,ENST00000449691.2,ENST00000433892.2 |
| exon_skip_58218 | 11 | 35236398:35236461:35240862:35240934:35243200:35243263 | 35240862:35240934 | ENSG00000026508.12 | ENST00000425428.2,ENST00000434472.2,ENST00000527326.1,ENST00000525293.1,ENST00000360158.4,ENST00000433354.2,ENST00000525688.1,ENST00000442151.2,ENST00000415148.2,ENST00000428726.2,ENST00000449691.2,ENST00000437706.2,ENST00000278385.6,ENST00000263398.6,ENS |
| exon_skip_58221 | 11 | 35240890:35240934:35243200:35243279:35250675:35250711 | 35243200:35243279 | ENSG00000026508.12 | ENST00000425428.2,ENST00000526669.2,ENST00000434472.2,ENST00000527326.1,ENST00000360158.4,ENST00000433354.2,ENST00000525688.1,ENST00000415148.2,ENST00000428726.2,ENST00000449691.2,ENST00000437706.2,ENST00000278385.6,ENST00000263398.6,ENST00000433892.2,ENS |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CD44 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_57854 | 11 | 35160852:35160917:35198121:35198287:35208378:35208447 | 35198121:35198287 | ENSG00000026508.12 | ENST00000425428.2 |
| exon_skip_57859 | 11 | 35198245:35198287:35201820:35201954:35208378:35208447 | 35201820:35201954 | ENSG00000026508.12 | ENST00000263398.6,ENST00000415148.2,ENST00000433354.2,ENST00000449691.2,ENST00000437706.2,ENST00000360158.4,ENST00000428726.2,ENST00000433892.2,ENST00000434472.2,ENST00000352818.4,ENST00000442151.2,ENST00000525211.1,ENST00000526000.1,ENST00000279452.6,ENS |
| exon_skip_57862 | 11 | 35201904:35201954:35208378:35208447:35211381:35211519 | 35208378:35208447 | ENSG00000026508.12 | ENST00000263398.6,ENST00000415148.2,ENST00000433354.2,ENST00000449691.2,ENST00000437706.2,ENST00000360158.4,ENST00000428726.2,ENST00000433892.2,ENST00000434472.2,ENST00000352818.4,ENST00000442151.2,ENST00000525211.1,ENST00000526000.1,ENST00000279452.6,ENS |
| exon_skip_57865 | 11 | 35208408:35208447:35211381:35211519:35236398:35236408 | 35211381:35211519 | ENSG00000026508.12 | ENST00000279452.6 |
| exon_skip_57867 | 11 | 35208408:35208447:35211381:35211612:35236398:35236408 | 35211381:35211612 | ENSG00000026508.12 | ENST00000263398.6,ENST00000425428.2,ENST00000442151.2 |
| exon_skip_57868 | 11 | 35208408:35208447:35211381:35211612:35240862:35240934 | 35211381:35211612 | ENSG00000026508.12 | ENST00000352818.4 |
| exon_skip_57892 | 11 | 35211381:35211519:35232792:35232996:35236398:35236408 | 35232792:35232996 | ENSG00000026508.12 | ENST00000526000.1 |
| exon_skip_57897 | 11 | 35211561:35211612:35218292:35218421:35219667:35219793 | 35218292:35218421 | ENSG00000026508.12 | ENST00000433354.2,ENST00000449691.2,ENST00000437706.2,ENST00000428726.2,ENST00000525685.1 |
| exon_skip_57922 | 11 | 35211561:35211612:35219667:35219793:35222628:35222742 | 35219667:35219793 | ENSG00000026508.12 | ENST00000415148.2 |
| exon_skip_57930 | 11 | 35211561:35211612:35219667:35219793:35229651:35229711 | 35219667:35219793 | ENSG00000026508.12 | ENST00000533222.1 |
| exon_skip_57933 | 11 | 35211561:35211612:35219667:35219793:35236398:35236408 | 35219667:35219793 | ENSG00000026508.12 | ENST00000525688.1 |
| exon_skip_57950 | 11 | 35211561:35211612:35219694:35219793:35222628:35222742 | 35219694:35219793 | ENSG00000026508.12 | ENST00000524922.1 |
| exon_skip_57965 | 11 | 35211561:35211612:35222628:35222742:35223214:35223278 | 35222628:35222742 | ENSG00000026508.12 | ENST00000534296.1 |
| exon_skip_57966 | 11 | 35211561:35211612:35222628:35222742:35223217:35223300 | 35222628:35222742 | ENSG00000026508.12 | ENST00000528455.1 |
| exon_skip_57992 | 11 | 35211561:35211612:35226058:35226187:35227658:35227790 | 35226058:35226187 | ENSG00000026508.12 | ENST00000531110.1 |
| exon_skip_58014 | 11 | 35211561:35211612:35229651:35229753:35231511:35231521 | 35229651:35229753 | ENSG00000026508.12 | ENST00000433892.2,ENST00000278385.6 |
| exon_skip_58022 | 11 | 35211561:35211612:35229651:35229756:35236398:35236461 | 35229651:35229756 | ENSG00000026508.12 | ENST00000360158.4 |
| exon_skip_58029 | 11 | 35211561:35211612:35231511:35231601:35232792:35232857 | 35231511:35231601 | ENSG00000026508.12 | ENST00000531873.1 |
| exon_skip_58035 | 11 | 35211561:35211612:35232792:35232996:35236398:35236408 | 35232792:35232996 | ENSG00000026508.12 | ENST00000434472.2 |
| exon_skip_58040 | 11 | 35211556:35211612:35236398:35236461:35240862:35240934 | 35236398:35236461 | ENSG00000026508.12 | ENST00000263398.6,ENST00000425428.2,ENST00000442151.2 |
| exon_skip_58049 | 11 | 35218382:35218421:35219667:35219793:35222628:35222742 | 35219667:35219793 | ENSG00000026508.12 | ENST00000433354.2,ENST00000449691.2,ENST00000437706.2,ENST00000428726.2 |
| exon_skip_58051 | 11 | 35218292:35218421:35219667:35219793:35229651:35229711 | 35219667:35219793 | ENSG00000026508.12 | ENST00000525685.1 |
| exon_skip_58067 | 11 | 35219694:35219793:35222628:35222742:35223214:35223278 | 35222628:35222742 | ENSG00000026508.12 | ENST00000433354.2,ENST00000525348.1 |
| exon_skip_58068 | 11 | 35219694:35219793:35222628:35222742:35223217:35223300 | 35222628:35222742 | ENSG00000026508.12 | ENST00000415148.2,ENST00000449691.2,ENST00000437706.2,ENST00000428726.2,ENST00000524922.1 |
| exon_skip_58112 | 11 | 35219694:35219793:35229651:35229753:35231511:35231521 | 35229651:35229753 | ENSG00000026508.12 | ENST00000525685.1,ENST00000533222.1 |
| exon_skip_58122 | 11 | 35222690:35222742:35223214:35223334:35226058:35226187 | 35223214:35223334 | ENSG00000026508.12 | ENST00000433354.2,ENST00000534296.1,ENST00000534082.1 |
| exon_skip_58127 | 11 | 35222690:35222742:35223217:35223334:35226058:35226187 | 35223217:35223334 | ENSG00000026508.12 | ENST00000415148.2,ENST00000437706.2,ENST00000428726.2 |
| exon_skip_58142 | 11 | 35223225:35223334:35226058:35226187:35227658:35227790 | 35226058:35226187 | ENSG00000026508.12 | ENST00000415148.2,ENST00000433354.2,ENST00000437706.2,ENST00000428726.2 |
| exon_skip_58143 | 11 | 35223225:35223334:35226058:35226187:35229651:35229711 | 35226058:35226187 | ENSG00000026508.12 | ENST00000528672.1 |
| exon_skip_58152 | 11 | 35223225:35223334:35227658:35227790:35229651:35229711 | 35227658:35227790 | ENSG00000026508.12 | ENST00000449691.2 |
| exon_skip_58161 | 11 | 35223167:35223334:35232792:35232996:35236398:35236408 | 35232792:35232996 | ENSG00000026508.12 | ENST00000525293.1 |
| exon_skip_58162 | 11 | 35226063:35226187:35227658:35227790:35229651:35229711 | 35227658:35227790 | ENSG00000026508.12 | ENST00000415148.2,ENST00000433354.2,ENST00000437706.2,ENST00000428726.2,ENST00000531110.1 |
| exon_skip_58164 | 11 | 35226063:35226187:35227661:35227790:35229651:35229711 | 35227661:35227790 | ENSG00000026508.12 | ENST00000526553.1 |
| exon_skip_58167 | 11 | 35226058:35226187:35229651:35229753:35231511:35231521 | 35229651:35229753 | ENSG00000026508.12 | ENST00000528672.1 |
| exon_skip_58191 | 11 | 35229683:35229753:35231511:35231601:35232792:35232857 | 35231511:35231601 | ENSG00000026508.12 | ENST00000415148.2,ENST00000449691.2,ENST00000428726.2,ENST00000433892.2,ENST00000533222.1,ENST00000528672.1 |
| exon_skip_58194 | 11 | 35229683:35229753:35231511:35231601:35236398:35236408 | 35231511:35231601 | ENSG00000026508.12 | ENST00000437706.2,ENST00000278385.6 |
| exon_skip_58204 | 11 | 35229651:35229756:35232792:35232996:35236398:35236461 | 35232792:35232996 | ENSG00000026508.12 | ENST00000433354.2 |
| exon_skip_58206 | 11 | 35231516:35231601:35232792:35232996:35236398:35236408 | 35232792:35232996 | ENSG00000026508.12 | ENST00000415148.2,ENST00000449691.2,ENST00000428726.2,ENST00000433892.2 |
| exon_skip_58214 | 11 | 35232810:35232996:35236398:35236461:35240862:35240934 | 35236398:35236461 | ENSG00000026508.12 | ENST00000415148.2,ENST00000433354.2,ENST00000449691.2,ENST00000428726.2,ENST00000433892.2,ENST00000434472.2,ENST00000525293.1 |
| exon_skip_58218 | 11 | 35236398:35236461:35240862:35240934:35243200:35243263 | 35240862:35240934 | ENSG00000026508.12 | ENST00000263398.6,ENST00000415148.2,ENST00000433354.2,ENST00000449691.2,ENST00000437706.2,ENST00000360158.4,ENST00000428726.2,ENST00000425428.2,ENST00000433892.2,ENST00000434472.2,ENST00000442151.2,ENST00000279452.6,ENST00000525688.1,ENST00000278385.6,ENS |
| exon_skip_58221 | 11 | 35240890:35240934:35243200:35243279:35250675:35250711 | 35243200:35243279 | ENSG00000026508.12 | ENST00000263398.6,ENST00000415148.2,ENST00000433354.2,ENST00000449691.2,ENST00000437706.2,ENST00000360158.4,ENST00000428726.2,ENST00000526669.2,ENST00000425428.2,ENST00000433892.2,ENST00000434472.2,ENST00000352818.4,ENST00000279452.6,ENST00000525688.1,ENS |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for CD44 |
| Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000428726 | 35201820 | 35201954 | Frame-shift |
| ENST00000428726 | 35243200 | 35243279 | Frame-shift |
| ENST00000428726 | 35208378 | 35208447 | In-frame |
| ENST00000428726 | 35218292 | 35218421 | In-frame |
| ENST00000428726 | 35219667 | 35219793 | In-frame |
| ENST00000428726 | 35222628 | 35222742 | In-frame |
| ENST00000428726 | 35223217 | 35223334 | In-frame |
| ENST00000428726 | 35226058 | 35226187 | In-frame |
| ENST00000428726 | 35227658 | 35227790 | In-frame |
| ENST00000428726 | 35231511 | 35231601 | In-frame |
| ENST00000428726 | 35232792 | 35232996 | In-frame |
| ENST00000428726 | 35236398 | 35236461 | In-frame |
| ENST00000428726 | 35240862 | 35240934 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000428726 | 35201820 | 35201954 | Frame-shift |
| ENST00000428726 | 35243200 | 35243279 | Frame-shift |
| ENST00000428726 | 35208378 | 35208447 | In-frame |
| ENST00000428726 | 35218292 | 35218421 | In-frame |
| ENST00000428726 | 35219667 | 35219793 | In-frame |
| ENST00000428726 | 35222628 | 35222742 | In-frame |
| ENST00000428726 | 35223217 | 35223334 | In-frame |
| ENST00000428726 | 35226058 | 35226187 | In-frame |
| ENST00000428726 | 35227658 | 35227790 | In-frame |
| ENST00000428726 | 35231511 | 35231601 | In-frame |
| ENST00000428726 | 35232792 | 35232996 | In-frame |
| ENST00000428726 | 35236398 | 35236461 | In-frame |
| ENST00000428726 | 35240862 | 35240934 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for CD44 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
 |
| Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000428726 | 3063 | 742 | 35208378 | 35208447 | 491 | 559 | 122 | 145 |
| ENST00000428726 | 3063 | 742 | 35218292 | 35218421 | 791 | 919 | 222 | 265 |
| ENST00000428726 | 3063 | 742 | 35219667 | 35219793 | 920 | 1045 | 265 | 307 |
| ENST00000428726 | 3063 | 742 | 35222628 | 35222742 | 1046 | 1159 | 307 | 345 |
| ENST00000428726 | 3063 | 742 | 35223217 | 35223334 | 1160 | 1276 | 345 | 384 |
| ENST00000428726 | 3063 | 742 | 35226058 | 35226187 | 1277 | 1405 | 384 | 427 |
| ENST00000428726 | 3063 | 742 | 35227658 | 35227790 | 1406 | 1537 | 427 | 471 |
| ENST00000428726 | 3063 | 742 | 35231511 | 35231601 | 1640 | 1729 | 505 | 535 |
| ENST00000428726 | 3063 | 742 | 35232792 | 35232996 | 1730 | 1933 | 535 | 603 |
| ENST00000428726 | 3063 | 742 | 35236398 | 35236461 | 1934 | 1996 | 603 | 624 |
| ENST00000428726 | 3063 | 742 | 35240862 | 35240934 | 1997 | 2068 | 624 | 648 |
| Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000428726 | 3063 | 742 | 35208378 | 35208447 | 491 | 559 | 122 | 145 |
| ENST00000428726 | 3063 | 742 | 35218292 | 35218421 | 791 | 919 | 222 | 265 |
| ENST00000428726 | 3063 | 742 | 35219667 | 35219793 | 920 | 1045 | 265 | 307 |
| ENST00000428726 | 3063 | 742 | 35222628 | 35222742 | 1046 | 1159 | 307 | 345 |
| ENST00000428726 | 3063 | 742 | 35223217 | 35223334 | 1160 | 1276 | 345 | 384 |
| ENST00000428726 | 3063 | 742 | 35226058 | 35226187 | 1277 | 1405 | 384 | 427 |
| ENST00000428726 | 3063 | 742 | 35227658 | 35227790 | 1406 | 1537 | 427 | 471 |
| ENST00000428726 | 3063 | 742 | 35231511 | 35231601 | 1640 | 1729 | 505 | 535 |
| ENST00000428726 | 3063 | 742 | 35232792 | 35232996 | 1730 | 1933 | 535 | 603 |
| ENST00000428726 | 3063 | 742 | 35236398 | 35236461 | 1934 | 1996 | 603 | 624 |
| ENST00000428726 | 3063 | 742 | 35240862 | 35240934 | 1997 | 2068 | 624 | 648 |
| Lost protein functional features of individual exon skipping events in TCGA. |
| 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 |
| Lost protein functional features of individual exon skipping events in GTEx. |
| 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 |
Top |
SNVs in the skipped exons for CD44 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
 |
| - Differential PSIs between mutated versus non-mutated samples. |
CD44_BRCA_exon_skip_58022_psi_boxplot.png |
CD44_LIHC_exon_skip_57897_psi_boxplot.png |
CD44_PAAD_exon_skip_57897_psi_boxplot.png |
CD44_SKCM_exon_skip_57862_psi_boxplot.png |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_57854 | 35198122 | 35198287 | 35198219 | 35198219 | Frame_Shift_Del | T | - | p.A55fs |
| LUAD | TCGA-86-A456-01 | exon_skip_57867 exon_skip_57868 | 35211382 | 35211612 | 35211532 | 35211532 | Frame_Shift_Del | A | - | p.Y196fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_57897 | 35218293 | 35218421 | 35218370 | 35218370 | Frame_Shift_Del | T | - | p.F249fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_58162 exon_skip_58164 exon_skip_58152 | 35227659 | 35227790 | 35227753 | 35227753 | Frame_Shift_Del | C | - | p.H459fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_58162 exon_skip_58164 exon_skip_58152 | 35227662 | 35227790 | 35227753 | 35227753 | Frame_Shift_Del | C | - | p.H459fs |
| BRCA | TCGA-C8-A1HJ-01 | exon_skip_58167 exon_skip_58112 exon_skip_58014 | 35229652 | 35229753 | 35229691 | 35229698 | Frame_Shift_Del | CAAATCCA | - | p.A485fs |
| BRCA | TCGA-C8-A1HJ-01 | exon_skip_58022 | 35229652 | 35229756 | 35229691 | 35229698 | Frame_Shift_Del | CAAATCCA | - | p.A485fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_58161 exon_skip_57892 exon_skip_58206 exon_skip_58204 exon_skip_58035 | 35232793 | 35232996 | 35232892 | 35232892 | Frame_Shift_Del | A | - | p.E569fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_58221 | 35243201 | 35243279 | 35243222 | 35243222 | Frame_Shift_Del | C | - | p.S275fs |
| SKCM | TCGA-D3-A3CC-06 | exon_skip_58068 exon_skip_58067 exon_skip_57965 exon_skip_57966 | 35222629 | 35222742 | 35222633 | 35222634 | Frame_Shift_Ins | - | ACCAC | p.H310fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_58161 exon_skip_57892 exon_skip_58206 exon_skip_58204 exon_skip_58035 | 35232793 | 35232996 | 35232823 | 35232824 | Frame_Shift_Ins | - | C | p.A546fs |
| STAD | TCGA-VQ-AA6B-01 | exon_skip_57859 | 35201821 | 35201954 | 35201924 | 35201924 | Nonsense_Mutation | C | T | p.Q113* |
| STAD | TCGA-VQ-AA6B-01 | exon_skip_57859 | 35201821 | 35201954 | 35201924 | 35201924 | Nonsense_Mutation | C | T | p.Q113X |
| UCEC | TCGA-D1-A103-01 | exon_skip_57865 | 35211382 | 35211519 | 35211502 | 35211502 | Nonsense_Mutation | G | T | p.G164* |
| UCEC | TCGA-D1-A103-01 | exon_skip_57867 exon_skip_57868 | 35211382 | 35211612 | 35211502 | 35211502 | Nonsense_Mutation | G | T | p.G164* |
| PAAD | TCGA-2J-AABO-01 | exon_skip_57897 | 35218293 | 35218421 | 35218362 | 35218362 | Nonsense_Mutation | C | A | p.S246* |
| GBM | TCGA-32-2494-01 | exon_skip_57992 exon_skip_58142 exon_skip_58143 | 35226059 | 35226187 | 35226085 | 35226085 | Nonsense_Mutation | G | T | p.E394* |
| LUSC | TCGA-22-1012-01 | exon_skip_58162 exon_skip_58164 exon_skip_58152 | 35227659 | 35227790 | 35227749 | 35227749 | Nonsense_Mutation | C | G | p.S458* |
| LUSC | TCGA-22-1012-01 | exon_skip_58162 exon_skip_58164 exon_skip_58152 | 35227662 | 35227790 | 35227749 | 35227749 | Nonsense_Mutation | C | G | p.S458* |
| GBM | TCGA-06-0137-01 | exon_skip_58162 exon_skip_58164 exon_skip_58152 | 35227659 | 35227790 | 35227763 | 35227763 | Nonsense_Mutation | C | T | p.R463* |
| GBM | TCGA-06-0137-01 | exon_skip_58162 exon_skip_58164 exon_skip_58152 | 35227662 | 35227790 | 35227763 | 35227763 | Nonsense_Mutation | C | T | p.R463* |
| THYM | TCGA-X7-A8M7-01 | exon_skip_58221 | 35243201 | 35243279 | 35243274 | 35243274 | Nonsense_Mutation | A | T | p.K86X |
| UCEC | TCGA-B5-A0JY-01 | exon_skip_57854 | 35198122 | 35198287 | 35198121 | 35198121 | Splice_Site | G | T | e2-1 |
| SKCM | TCGA-EB-A3Y7-01 | exon_skip_57862 | 35208379 | 35208447 | 35208378 | 35208396 | Splice_Site | GCTCCACCTGAAGAAGATT | - | p.APPEEDC123_splice |
| KIRC | TCGA-B0-5108-01 | exon_skip_57862 | 35208379 | 35208447 | 35208449 | 35208449 | Splice_Site | T | A | . |
| THYM | TCGA-XM-A8RG-01 | exon_skip_57930 exon_skip_57933 exon_skip_57922 exon_skip_57950 exon_skip_58049 exon_skip_58051 | 35219668 | 35219793 | 35219794 | 35219794 | Splice_Site | G | T | . |
| THYM | TCGA-XM-A8RG-01 | exon_skip_57930 exon_skip_57933 exon_skip_57922 exon_skip_57950 exon_skip_58049 exon_skip_58051 | 35219695 | 35219793 | 35219794 | 35219794 | Splice_Site | G | T | . |
| LIHC | TCGA-ED-A7PZ-01 | exon_skip_58214 exon_skip_58212 exon_skip_58040 | 35236399 | 35236461 | 35236397 | 35236397 | Splice_Site | A | T | . |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-BC-A112-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_58035 | |
| Skipped exon start: 35232793 | |
| Skipped exon end: 35232996 | |
| Mutation start: 35232823 | |
| Mutation end: 35232824 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: C | |
| AAchange: p.A546fs | |
exon_skip_114200_LIHC_TCGA-BC-A112-01.png | |
exon_skip_131894_LIHC_TCGA-BC-A112-01.png | |
exon_skip_135820_LIHC_TCGA-BC-A112-01.png | |
exon_skip_138911_LIHC_TCGA-BC-A112-01.png | |
exon_skip_141587_LIHC_TCGA-BC-A112-01.png | |
exon_skip_142606_LIHC_TCGA-BC-A112-01.png | |
exon_skip_146695_LIHC_TCGA-BC-A112-01.png | |
exon_skip_146697_LIHC_TCGA-BC-A112-01.png | |
exon_skip_152962_LIHC_TCGA-BC-A112-01.png | |
exon_skip_155765_LIHC_TCGA-BC-A112-01.png | |
exon_skip_1757_LIHC_TCGA-BC-A112-01.png | |
exon_skip_1879_LIHC_TCGA-BC-A112-01.png | |
exon_skip_1881_LIHC_TCGA-BC-A112-01.png | |
exon_skip_266_LIHC_TCGA-BC-A112-01.png | |
exon_skip_284527_LIHC_TCGA-BC-A112-01.png | |
exon_skip_286998_LIHC_TCGA-BC-A112-01.png | |
exon_skip_293546_LIHC_TCGA-BC-A112-01.png | |
exon_skip_293549_LIHC_TCGA-BC-A112-01.png | |
exon_skip_306900_LIHC_TCGA-BC-A112-01.png | |
exon_skip_311841_LIHC_TCGA-BC-A112-01.png | |
exon_skip_325884_LIHC_TCGA-BC-A112-01.png | |
exon_skip_326432_LIHC_TCGA-BC-A112-01.png | |
exon_skip_32825_LIHC_TCGA-BC-A112-01.png | |
exon_skip_331787_LIHC_TCGA-BC-A112-01.png | |
exon_skip_337208_LIHC_TCGA-BC-A112-01.png | |
exon_skip_337747_LIHC_TCGA-BC-A112-01.png | |
exon_skip_339045_LIHC_TCGA-BC-A112-01.png | |
exon_skip_344031_LIHC_TCGA-BC-A112-01.png | |
exon_skip_35548_LIHC_TCGA-BC-A112-01.png | |
exon_skip_35556_LIHC_TCGA-BC-A112-01.png | |
exon_skip_359720_LIHC_TCGA-BC-A112-01.png | |
exon_skip_37056_LIHC_TCGA-BC-A112-01.png | |
exon_skip_37483_LIHC_TCGA-BC-A112-01.png | |
exon_skip_37491_LIHC_TCGA-BC-A112-01.png | |
exon_skip_375724_LIHC_TCGA-BC-A112-01.png | |
exon_skip_378789_LIHC_TCGA-BC-A112-01.png | |
exon_skip_386291_LIHC_TCGA-BC-A112-01.png | |
exon_skip_41850_LIHC_TCGA-BC-A112-01.png | |
exon_skip_435931_LIHC_TCGA-BC-A112-01.png | |
exon_skip_436296_LIHC_TCGA-BC-A112-01.png | |
exon_skip_438393_LIHC_TCGA-BC-A112-01.png | |
exon_skip_443977_LIHC_TCGA-BC-A112-01.png | |
exon_skip_444190_LIHC_TCGA-BC-A112-01.png | |
exon_skip_44538_LIHC_TCGA-BC-A112-01.png | |
exon_skip_449944_LIHC_TCGA-BC-A112-01.png | |
exon_skip_458520_LIHC_TCGA-BC-A112-01.png | |
exon_skip_460075_LIHC_TCGA-BC-A112-01.png | |
exon_skip_472635_LIHC_TCGA-BC-A112-01.png | |
exon_skip_489149_LIHC_TCGA-BC-A112-01.png | |
exon_skip_492152_LIHC_TCGA-BC-A112-01.png | |
exon_skip_49506_LIHC_TCGA-BC-A112-01.png | |
exon_skip_5044_LIHC_TCGA-BC-A112-01.png | |
exon_skip_512559_LIHC_TCGA-BC-A112-01.png | |
exon_skip_514460_LIHC_TCGA-BC-A112-01.png | |
exon_skip_514990_LIHC_TCGA-BC-A112-01.png | |
exon_skip_55171_LIHC_TCGA-BC-A112-01.png | |
exon_skip_55175_LIHC_TCGA-BC-A112-01.png | |
exon_skip_56847_LIHC_TCGA-BC-A112-01.png | |
exon_skip_57586_LIHC_TCGA-BC-A112-01.png | |
exon_skip_57892_LIHC_TCGA-BC-A112-01.png | |
exon_skip_58035_LIHC_TCGA-BC-A112-01.png | |
exon_skip_6399_LIHC_TCGA-BC-A112-01.png | |
exon_skip_77132_LIHC_TCGA-BC-A112-01.png | |
 | Sample: TCGA-DD-A1EG-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_57897 | |
| Skipped exon start: 35218293 | |
| Skipped exon end: 35218421 | |
| Mutation start: 35218370 | |
| Mutation end: 35218370 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: T | |
| Mutation seq: - | |
| AAchange: p.F249fs | |
| Sample: TCGA-DD-A1EG-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_58035 | |
| Skipped exon start: 35232793 | |
| Skipped exon end: 35232996 | |
| Mutation start: 35232892 | |
| Mutation end: 35232892 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: A | |
| Mutation seq: - | |
| AAchange: p.E569fs | |
exon_skip_103075_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_100809_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_101656_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_10700_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_109033_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_110000_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_110381_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_110545_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_11218_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_11256_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_11259_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_11263_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_115462_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_115587_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_116330_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_121002_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_123667_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_12440_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_125045_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_129202_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_129996_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_130099_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_13071_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_131505_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_131697_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_133542_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_133548_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_134792_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_135418_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_135741_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_135763_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_135820_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_13608_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_138255_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_138373_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_138947_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_140996_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_141914_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_143553_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_143841_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_143843_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_144075_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_144116_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_144125_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_146762_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_146776_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_146807_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_14772_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_148738_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_148740_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_14897_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_14899_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_15042_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_150985_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_153494_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_155021_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_16928_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_17317_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_17318_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_17943_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_18708_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_19048_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_1906_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_19372_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_19902_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_20061_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_22876_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_2523_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_26461_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_27038_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_27065_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_283878_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_284109_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_288112_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_290222_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_290223_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_29032_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_290_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_291361_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_291973_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_29487_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_295443_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_297892_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_299242_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_30164_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_30165_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_302094_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_302095_LIHC_TCGA-DD-A1EG-01.png | |
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 | Sample: TCGA-C8-A1HJ-01 |
| Cancer type: BRCA | |
| ESID: exon_skip_58014 | |
| Skipped exon start: 35229652 | |
| Skipped exon end: 35229753 | |
| Mutation start: 35229691 | |
| Mutation end: 35229698 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: CAAATCCA | |
| Mutation seq: - | |
| AAchange: p.A485fs | |
| Sample: TCGA-C8-A1HJ-01 |
| Cancer type: BRCA | |
| ESID: exon_skip_58022 | |
| Skipped exon start: 35229652 | |
| Skipped exon end: 35229756 | |
| Mutation start: 35229691 | |
| Mutation end: 35229698 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: CAAATCCA | |
| Mutation seq: - | |
| AAchange: p.A485fs | |
exon_skip_58014_BRCA_TCGA-C8-A1HJ-01.png | |
exon_skip_58022_BRCA_TCGA-C8-A1HJ-01.png | |
 | Sample: TCGA-C8-A1HJ-01 |
| Cancer type: BRCA | |
| ESID: exon_skip_58014 | |
| Skipped exon start: 35229652 | |
| Skipped exon end: 35229753 | |
| Mutation start: 35229691 | |
| Mutation end: 35229698 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: CAAATCCA | |
| Mutation seq: - | |
| AAchange: p.A485fs | |
| Sample: TCGA-C8-A1HJ-01 |
| Cancer type: BRCA | |
| ESID: exon_skip_58022 | |
| Skipped exon start: 35229652 | |
| Skipped exon end: 35229756 | |
| Mutation start: 35229691 | |
| Mutation end: 35229698 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: CAAATCCA | |
| Mutation seq: - | |
| AAchange: p.A485fs | |
| exon_skip_58014_BRCA_TCGA-C8-A1HJ-01.png | |
| exon_skip_58022_BRCA_TCGA-C8-A1HJ-01.png | |
 | Sample: TCGA-XM-A8RG-01 |
| Cancer type: THYM | |
| ESID: exon_skip_58051 | |
| Skipped exon start: 35219668 | |
| Skipped exon end: 35219793 | |
| Mutation start: 35219794 | |
| Mutation end: 35219794 | |
| Mutation type: Splice_Site | |
| Reference seq: G | |
| Mutation seq: T | |
| AAchange: . | |
| Sample: TCGA-XM-A8RG-01 |
| Cancer type: THYM | |
| ESID: exon_skip_58051 | |
| Skipped exon start: 35219695 | |
| Skipped exon end: 35219793 | |
| Mutation start: 35219794 | |
| Mutation end: 35219794 | |
| Mutation type: Splice_Site | |
| Reference seq: G | |
| Mutation seq: T | |
| AAchange: . | |
exon_skip_57933_THYM_TCGA-XM-A8RG-01.png | |
 | Sample: TCGA-2J-AABO-01 |
| Cancer type: PAAD | |
| ESID: exon_skip_57897 | |
| Skipped exon start: 35218293 | |
| Skipped exon end: 35218421 | |
| Mutation start: 35218362 | |
| Mutation end: 35218362 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: A | |
| AAchange: p.S246* | |
exon_skip_57897_PAAD_TCGA-2J-AABO-01.png | |
 | Sample: TCGA-DD-A1EG-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_57897 | |
| Skipped exon start: 35218293 | |
| Skipped exon end: 35218421 | |
| Mutation start: 35218370 | |
| Mutation end: 35218370 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: T | |
| Mutation seq: - | |
| AAchange: p.F249fs | |
| Sample: TCGA-DD-A1EG-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_58035 | |
| Skipped exon start: 35232793 | |
| Skipped exon end: 35232996 | |
| Mutation start: 35232892 | |
| Mutation end: 35232892 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: A | |
| Mutation seq: - | |
| AAchange: p.E569fs | |
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| exon_skip_495598_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_495600_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_497719_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_498628_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_498631_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_499018_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_501551_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_503330_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_503777_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_504288_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_5044_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_506320_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_507513_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_508970_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_510119_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_512244_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_512530_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_513207_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_513240_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_514990_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_516934_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_517296_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_517308_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_52417_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_54123_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_54476_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_56470_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_57633_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_57892_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_57897_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_58035_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_5818_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_58444_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_58894_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_59424_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_59476_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_59654_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_60187_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_60189_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_62322_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_63747_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_66185_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_66376_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_66813_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_67402_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_67594_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_67918_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_68288_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_68407_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_68411_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_68522_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_68768_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_69056_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_70050_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_71400_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_77097_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_79815_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_81531_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_81532_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_822_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_82890_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_84090_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_86135_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_87721_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_87_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_93888_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_93891_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_94866_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_96939_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_9694_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_97667_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_98055_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_98056_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_99140_LIHC_TCGA-DD-A1EG-01.png | |
 | Sample: TCGA-BC-A112-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_58035 | |
| Skipped exon start: 35232793 | |
| Skipped exon end: 35232996 | |
| Mutation start: 35232823 | |
| Mutation end: 35232824 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: C | |
| AAchange: p.A546fs | |
| exon_skip_114200_LIHC_TCGA-BC-A112-01.png | |
| exon_skip_131894_LIHC_TCGA-BC-A112-01.png | |
| exon_skip_135820_LIHC_TCGA-BC-A112-01.png | |
| exon_skip_138911_LIHC_TCGA-BC-A112-01.png | |
| exon_skip_141587_LIHC_TCGA-BC-A112-01.png | |
| exon_skip_142606_LIHC_TCGA-BC-A112-01.png | |
| exon_skip_146695_LIHC_TCGA-BC-A112-01.png | |
| exon_skip_146697_LIHC_TCGA-BC-A112-01.png | |
| exon_skip_152962_LIHC_TCGA-BC-A112-01.png | |
| exon_skip_155765_LIHC_TCGA-BC-A112-01.png | |
| exon_skip_1757_LIHC_TCGA-BC-A112-01.png | |
| exon_skip_1879_LIHC_TCGA-BC-A112-01.png | |
| exon_skip_1881_LIHC_TCGA-BC-A112-01.png | |
| exon_skip_266_LIHC_TCGA-BC-A112-01.png | |
| exon_skip_284527_LIHC_TCGA-BC-A112-01.png | |
| exon_skip_286998_LIHC_TCGA-BC-A112-01.png | |
| exon_skip_293546_LIHC_TCGA-BC-A112-01.png | |
| exon_skip_293549_LIHC_TCGA-BC-A112-01.png | |
| exon_skip_306900_LIHC_TCGA-BC-A112-01.png | |
| exon_skip_311841_LIHC_TCGA-BC-A112-01.png | |
| exon_skip_325884_LIHC_TCGA-BC-A112-01.png | |
| exon_skip_326432_LIHC_TCGA-BC-A112-01.png | |
| exon_skip_32825_LIHC_TCGA-BC-A112-01.png | |
| exon_skip_331787_LIHC_TCGA-BC-A112-01.png | |
| exon_skip_337208_LIHC_TCGA-BC-A112-01.png | |
| exon_skip_337747_LIHC_TCGA-BC-A112-01.png | |
| exon_skip_339045_LIHC_TCGA-BC-A112-01.png | |
| exon_skip_344031_LIHC_TCGA-BC-A112-01.png | |
| exon_skip_35548_LIHC_TCGA-BC-A112-01.png | |
| exon_skip_35556_LIHC_TCGA-BC-A112-01.png | |
| exon_skip_359720_LIHC_TCGA-BC-A112-01.png | |
| exon_skip_37056_LIHC_TCGA-BC-A112-01.png | |
| exon_skip_37483_LIHC_TCGA-BC-A112-01.png | |
| exon_skip_37491_LIHC_TCGA-BC-A112-01.png | |
| exon_skip_375724_LIHC_TCGA-BC-A112-01.png | |
| exon_skip_378789_LIHC_TCGA-BC-A112-01.png | |
| exon_skip_386291_LIHC_TCGA-BC-A112-01.png | |
| exon_skip_41850_LIHC_TCGA-BC-A112-01.png | |
| exon_skip_435931_LIHC_TCGA-BC-A112-01.png | |
| exon_skip_436296_LIHC_TCGA-BC-A112-01.png | |
| exon_skip_438393_LIHC_TCGA-BC-A112-01.png | |
| exon_skip_443977_LIHC_TCGA-BC-A112-01.png | |
| exon_skip_444190_LIHC_TCGA-BC-A112-01.png | |
| exon_skip_44538_LIHC_TCGA-BC-A112-01.png | |
| exon_skip_449944_LIHC_TCGA-BC-A112-01.png | |
| exon_skip_458520_LIHC_TCGA-BC-A112-01.png | |
| exon_skip_460075_LIHC_TCGA-BC-A112-01.png | |
| exon_skip_472635_LIHC_TCGA-BC-A112-01.png | |
| exon_skip_489149_LIHC_TCGA-BC-A112-01.png | |
| exon_skip_492152_LIHC_TCGA-BC-A112-01.png | |
| exon_skip_49506_LIHC_TCGA-BC-A112-01.png | |
| exon_skip_5044_LIHC_TCGA-BC-A112-01.png | |
| exon_skip_512559_LIHC_TCGA-BC-A112-01.png | |
| exon_skip_514460_LIHC_TCGA-BC-A112-01.png | |
| exon_skip_514990_LIHC_TCGA-BC-A112-01.png | |
| exon_skip_55171_LIHC_TCGA-BC-A112-01.png | |
| exon_skip_55175_LIHC_TCGA-BC-A112-01.png | |
| exon_skip_56847_LIHC_TCGA-BC-A112-01.png | |
| exon_skip_57586_LIHC_TCGA-BC-A112-01.png | |
| exon_skip_57892_LIHC_TCGA-BC-A112-01.png | |
| exon_skip_58035_LIHC_TCGA-BC-A112-01.png | |
| exon_skip_6399_LIHC_TCGA-BC-A112-01.png | |
| exon_skip_77132_LIHC_TCGA-BC-A112-01.png | |
 | Sample: TCGA-DD-A1EG-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_57897 | |
| Skipped exon start: 35218293 | |
| Skipped exon end: 35218421 | |
| Mutation start: 35218370 | |
| Mutation end: 35218370 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: T | |
| Mutation seq: - | |
| AAchange: p.F249fs | |
| Sample: TCGA-DD-A1EG-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_58035 | |
| Skipped exon start: 35232793 | |
| Skipped exon end: 35232996 | |
| Mutation start: 35232892 | |
| Mutation end: 35232892 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: A | |
| Mutation seq: - | |
| AAchange: p.E569fs | |
| exon_skip_103075_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_100809_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_101656_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_10700_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_109033_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_110000_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_110381_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_110545_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_11218_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_11256_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_11259_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_11263_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_115462_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_115587_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_116330_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_121002_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_123667_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_12440_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_125045_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_129202_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_129996_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_130099_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_13071_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_131505_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_131697_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_133542_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_133548_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_134792_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_135418_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_135741_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_135763_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_135820_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_13608_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_138255_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_138373_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_138947_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_140996_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_141914_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_143553_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_143841_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_143843_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_144075_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_144116_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_144125_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_146762_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_146776_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_146807_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_14772_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_148738_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_148740_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_14897_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_14899_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_15042_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_150985_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_153494_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_155021_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_16928_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_17317_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_17318_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_17943_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_18708_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_19048_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_1906_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_19372_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_19902_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_20061_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_22876_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_2523_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_26461_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_27038_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_27065_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_283878_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_284109_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_288112_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_290222_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_290223_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_29032_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_290_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_291361_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_291973_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_29487_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_295443_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_297892_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_299242_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_30164_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_30165_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_302094_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_302095_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_302097_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_302181_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_305812_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_305815_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_3064_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_307291_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_307292_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_30744_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_307494_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_307495_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_30789_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_30792_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_308209_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_308211_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_308911_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_309060_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_309486_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_309505_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_309539_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_311823_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_311841_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_312748_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_315763_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_315773_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_316803_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_31766_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_318224_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_318551_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_318554_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_318555_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_319623_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_319638_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_32002_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_320793_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_320801LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_320805_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_320820_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_320893_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_323233_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_324148_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_325050_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_325907_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_325909_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_326432_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_329221_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_329666_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_330008_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_331787_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_33329_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_33532_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_335990_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_33963_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_340419_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_340619_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_34100_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_34102_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_343034_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_343146_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_344918_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_346537_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_346953_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_347402_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_348700_LIHC_TCGA-DD-A1EG-01.png | |
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| exon_skip_354857_LIHC_TCGA-DD-A1EG-01.png | |
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| exon_skip_359489_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_361242_LIHC_TCGA-DD-A1EG-01.png | |
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| exon_skip_364099_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_364103_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_364697_LIHC_TCGA-DD-A1EG-01.png | |
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| exon_skip_379213_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_380574_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_380826_LIHC_TCGA-DD-A1EG-01.png | |
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| exon_skip_381100_LIHC_TCGA-DD-A1EG-01.png | |
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| exon_skip_384513_LIHC_TCGA-DD-A1EG-01.png | |
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| exon_skip_385178_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_385335_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_386274_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_386965_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_387419_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_38855_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_390081_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_3924_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_40143_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_421134_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_421552_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_422397_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_422548_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_423021_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_426236_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_426699_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_427391_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_427930_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_429469_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_430601_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_430604_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_430616_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_431557_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_433436_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_433459_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_434665_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_435300_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_435301_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_435931_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_436646_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_436987_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_438105_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_438770_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_43999_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_440168_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_440170_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_441705_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_443104_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_443977_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_443978_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_444190_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_444765_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_445559_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_446492_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_446495_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_449536_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_449592_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_4499_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_450058_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_450540_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_451867_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_456736_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_457729_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_457730_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_457842_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_459148_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_462138_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_466984_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_467199_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_467371_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_467372_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_46817_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_471387_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_471458_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_472013_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_472955_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_473416_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_475734_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_476238_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_476392_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_476535_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_478361_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_47845_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_483792_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_483806_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_484511_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_486903_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_486908_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_487634_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_48914_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_489575_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_489706_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_490514_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_492073_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_494000_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_495598_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_495600_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_497719_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_498628_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_498631_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_499018_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_501551_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_503330_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_503777_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_504288_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_5044_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_506320_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_507513_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_508970_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_510119_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_512244_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_512530_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_513207_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_513240_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_514990_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_516934_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_517296_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_517308_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_52417_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_54123_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_54476_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_56470_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_57633_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_57892_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_57897_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_58035_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_5818_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_58444_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_58894_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_59424_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_59476_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_59654_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_60187_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_60189_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_62322_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_63747_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_66185_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_66376_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_66813_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_67402_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_67594_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_67918_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_68288_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_68407_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_68411_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_68522_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_68768_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_69056_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_70050_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_71400_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_77097_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_79815_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_81531_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_81532_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_822_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_82890_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_84090_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_86135_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_87721_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_87_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_93888_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_93891_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_94866_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_96939_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_9694_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_97667_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_98055_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_98056_LIHC_TCGA-DD-A1EG-01.png | |
| exon_skip_99140_LIHC_TCGA-DD-A1EG-01.png | |
 | Sample: TCGA-EB-A3Y7-01 |
| Cancer type: SKCM | |
| ESID: exon_skip_57862 | |
| Skipped exon start: 35208379 | |
| Skipped exon end: 35208447 | |
| Mutation start: 35208378 | |
| Mutation end: 35208396 | |
| Mutation type: Splice_Site | |
| Reference seq: GCTCCACCTGAAGAAGATT | |
| Mutation seq: - | |
| AAchange: p.APPEEDC123_splice | |
exon_skip_57862_SKCM_TCGA-EB-A3Y7-01.png | |
 | Sample: TCGA-B5-A0JY-01 |
| Cancer type: UCEC | |
| ESID: exon_skip_57854 | |
| Skipped exon start: 35198122 | |
| Skipped exon end: 35198287 | |
| Mutation start: 35198121 | |
| Mutation end: 35198121 | |
| Mutation type: Splice_Site | |
| Reference seq: G | |
| Mutation seq: T | |
| AAchange: e2-1 | |
exon_skip_2333_UCEC_TCGA-B5-A0JY-01.png | |
exon_skip_354315_UCEC_TCGA-B5-A0JY-01.png | |
exon_skip_382353_UCEC_TCGA-B5-A0JY-01.png | |
exon_skip_467199_UCEC_TCGA-B5-A0JY-01.png | |
exon_skip_506729_UCEC_TCGA-B5-A0JY-01.png | |
exon_skip_517484_UCEC_TCGA-B5-A0JY-01.png | |
exon_skip_517493_UCEC_TCGA-B5-A0JY-01.png | |
exon_skip_57854_UCEC_TCGA-B5-A0JY-01.png | |
exon_skip_64094_UCEC_TCGA-B5-A0JY-01.png | |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| NCIH1299_LUNG | 35236399 | 35236461 | 35236423 | 35236424 | Frame_Shift_Ins | - | T | p.G613fs |
| SNU761_LIVER | 35198122 | 35198287 | 35198202 | 35198202 | Missense_Mutation | G | A | p.A50T |
| SKGT4_OESOPHAGUS | 35198122 | 35198287 | 35198241 | 35198241 | Missense_Mutation | A | C | p.M63L |
| HEC1_ENDOMETRIUM | 35198122 | 35198287 | 35198260 | 35198260 | Missense_Mutation | C | A | p.A69D |
| SNUC4_LARGE_INTESTINE | 35201821 | 35201954 | 35201901 | 35201901 | Missense_Mutation | A | G | p.Y105C |
| SNU1076_UPPER_AERODIGESTIVE_TRACT | 35201821 | 35201954 | 35201928 | 35201928 | Missense_Mutation | A | G | p.Y114C |
| CCRFCEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 35211382 | 35211612 | 35211406 | 35211406 | Missense_Mutation | G | A | p.R154H |
| CCRFCEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 35211382 | 35211519 | 35211406 | 35211406 | Missense_Mutation | G | A | p.R154H |
| REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 35211382 | 35211612 | 35211406 | 35211406 | Missense_Mutation | G | A | p.R154H |
| REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 35211382 | 35211519 | 35211406 | 35211406 | Missense_Mutation | G | A | p.R154H |
| SLR23_KIDNEY | 35211382 | 35211612 | 35211409 | 35211409 | Missense_Mutation | A | G | p.Y155C |
| SLR23_KIDNEY | 35211382 | 35211519 | 35211409 | 35211409 | Missense_Mutation | A | G | p.Y155C |
| JEKO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 35211382 | 35211612 | 35211486 | 35211486 | Missense_Mutation | G | A | p.G181S |
| JEKO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 35211382 | 35211519 | 35211486 | 35211486 | Missense_Mutation | G | A | p.G181S |
| SNUC1_LARGE_INTESTINE | 35211382 | 35211612 | 35211498 | 35211498 | Missense_Mutation | G | A | p.E185K |
| SNUC1_LARGE_INTESTINE | 35211382 | 35211519 | 35211498 | 35211498 | Missense_Mutation | G | A | p.E185K |
| SNUC1_LARGE_INTESTINE | 35211382 | 35211612 | 35211510 | 35211510 | Missense_Mutation | A | T | p.T189S |
| SNUC1_LARGE_INTESTINE | 35211382 | 35211519 | 35211510 | 35211510 | Missense_Mutation | A | T | p.T189S |
| HS839T_FIBROBLAST | 35211382 | 35211612 | 35211609 | 35211609 | Missense_Mutation | A | G | p.T222A |
| C125PM_LARGE_INTESTINE | 35218293 | 35218421 | 35218379 | 35218379 | Missense_Mutation | T | C | p.S252P |
| SKNDZ_AUTONOMIC_GANGLIA | 35219668 | 35219793 | 35219749 | 35219749 | Missense_Mutation | C | A | p.S293Y |
| SKNDZ_AUTONOMIC_GANGLIA | 35219695 | 35219793 | 35219749 | 35219749 | Missense_Mutation | C | A | p.S293Y |
| UDSCC2_UPPER_AERODIGESTIVE_TRACT | 35219668 | 35219793 | 35219754 | 35219754 | Missense_Mutation | T | C | p.S295P |
| UDSCC2_UPPER_AERODIGESTIVE_TRACT | 35219695 | 35219793 | 35219754 | 35219754 | Missense_Mutation | T | C | p.S295P |
| ES5_BONE | 35222629 | 35222742 | 35222644 | 35222644 | Missense_Mutation | G | A | p.R313Q |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 35222629 | 35222742 | 35222654 | 35222654 | Missense_Mutation | C | A | p.D316E |
| RH30_SOFT_TISSUE | 35222629 | 35222742 | 35222707 | 35222707 | Missense_Mutation | C | T | p.P334L |
| SJRH30_SOFT_TISSUE | 35222629 | 35222742 | 35222707 | 35222707 | Missense_Mutation | C | T | p.P334L |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 35223215 | 35223334 | 35223230 | 35223230 | Missense_Mutation | A | G | p.N350S |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 35223218 | 35223334 | 35223230 | 35223230 | Missense_Mutation | A | G | p.N350S |
| SUDHL8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 35223215 | 35223334 | 35223256 | 35223256 | Missense_Mutation | T | G | p.W359G |
| SUDHL8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 35223218 | 35223334 | 35223256 | 35223256 | Missense_Mutation | T | G | p.W359G |
| LU165_LUNG | 35223215 | 35223334 | 35223296 | 35223296 | Missense_Mutation | A | G | p.H372R |
| LU165_LUNG | 35223218 | 35223334 | 35223296 | 35223296 | Missense_Mutation | A | G | p.H372R |
| KMOE2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 35226059 | 35226187 | 35226074 | 35226074 | Missense_Mutation | G | C | p.S390T |
| SNU1040_LARGE_INTESTINE | 35226059 | 35226187 | 35226134 | 35226134 | Missense_Mutation | A | T | p.E410V |
| JHOS2_OVARY | 35226059 | 35226187 | 35226143 | 35226143 | Missense_Mutation | G | C | p.R413P |
| CAL51_BREAST | 35227659 | 35227790 | 35227677 | 35227677 | Missense_Mutation | G | A | p.S434N |
| CAL51_BREAST | 35227662 | 35227790 | 35227677 | 35227677 | Missense_Mutation | G | A | p.S434N |
| OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 35227659 | 35227790 | 35227685 | 35227685 | Missense_Mutation | A | G | p.M437V |
| OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 35227662 | 35227790 | 35227685 | 35227685 | Missense_Mutation | A | G | p.M437V |
| NALM19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 35227659 | 35227790 | 35227751 | 35227751 | Missense_Mutation | C | T | p.H459Y |
| NALM19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 35227662 | 35227790 | 35227751 | 35227751 | Missense_Mutation | C | T | p.H459Y |
| UT7_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 35227659 | 35227790 | 35227751 | 35227751 | Missense_Mutation | C | T | p.H459Y |
| UT7_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 35227662 | 35227790 | 35227751 | 35227751 | Missense_Mutation | C | T | p.H459Y |
| WM1552C_SKIN | 35227659 | 35227790 | 35227753 | 35227753 | Missense_Mutation | C | A | p.H459Q |
| WM1552C_SKIN | 35227662 | 35227790 | 35227753 | 35227753 | Missense_Mutation | C | A | p.H459Q |
| MZ1PC_PANCREAS | 35236399 | 35236461 | 35236438 | 35236438 | Missense_Mutation | C | A | p.T617N |
| HA7EBV_MATCHED_NORMAL_TISSUE | 35243201 | 35243279 | 35243218 | 35243218 | Missense_Mutation | G | C | p.A655P |
| HA7RCC_KIDNEY | 35243201 | 35243279 | 35243218 | 35243218 | Missense_Mutation | G | C | p.A655P |
| HS675T_FIBROBLAST | 35219668 | 35219793 | 35219718 | 35219718 | Nonsense_Mutation | G | T | p.E283* |
| HS675T_FIBROBLAST | 35219695 | 35219793 | 35219718 | 35219718 | Nonsense_Mutation | G | T | p.E283* |
| YT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 35226059 | 35226187 | 35226129 | 35226129 | Nonsense_Mutation | G | A | p.W408* |
| U698M_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 35227659 | 35227790 | 35227726 | 35227726 | Nonsense_Mutation | G | A | p.W450* |
| U698M_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 35227662 | 35227790 | 35227726 | 35227726 | Nonsense_Mutation | G | A | p.W450* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CD44 |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CD44 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CD44 |
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RelatedDrugs for CD44 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| P16070 | DB08818 | Hyaluronic acid | CD44 antigen | small molecule | approved|vet_approved |
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RelatedDiseases for CD44 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| CD44 | C0023487 | Acute Promyelocytic Leukemia | 2 | CTD_human |
| CD44 | C0011616 | Contact Dermatitis | 1 | CTD_human |
| CD44 | C0017661 | IGA Glomerulonephritis | 1 | CTD_human |
| CD44 | C0023467 | Leukemia, Myelocytic, Acute | 1 | CTD_human |
| CD44 | C0024668 | Mammary Neoplasms, Experimental | 1 | CTD_human |
| CD44 | C0027627 | Neoplasm Metastasis | 1 | CTD_human |
| CD44 | C0027746 | Nerve Degeneration | 1 | CTD_human |
| CD44 | C0030297 | Pancreatic Neoplasm | 1 | CTD_human |
| CD44 | C0037274 | Dermatologic disorders | 1 | CTD_human |
| CD44 | C0038356 | Stomach Neoplasms | 1 | CTD_human |
| CD44 | C0042900 | Vitiligo | 1 | CTD_human |
| CD44 | C0311375 | Arsenic Poisoning | 1 | CTD_human |
| CD44 | C2609414 | Acute kidney injury | 1 | CTD_human |
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