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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 DMBT1 |
 Gene summary |
| Gene information | Gene symbol | DMBT1 | Gene ID | 1755 |
| Gene name | deleted in malignant brain tumors 1 | |
| Synonyms | GP340|SAG|SALSA|muclin | |
| Cytomap | 10q26.13 | |
| Type of gene | protein-coding | |
| Description | deleted in malignant brain tumors 1 proteinglycoprotein 340gp-340hensinsalivary agglutininsalivary scavenger and agglutininsurfactant pulmonary-associated D-binding proteinvomeroglandin | |
| Modification date | 20180523 | |
| UniProtAcc | Q9UGM3 | |
| Context | PubMed: DMBT1 [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 |
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Exon skipping events across known transcript of Ensembl for DMBT1 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 DMBT1 |
| 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 DMBT1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_45678 | 10 | 124329677:124329725:124330405:124330453:124331829:124331877 | 124330405:124330453 | ENSG00000187908.11 | ENST00000368956.2,ENST00000368909.3,ENST00000344338.3,ENST00000368955.3,ENST00000330163.4,ENST00000338354.3,ENST00000359586.6 |
| exon_skip_45681 | 10 | 124330405:124330453:124331829:124331877:124333230:124333278 | 124331829:124331877 | ENSG00000187908.11 | ENST00000368956.2,ENST00000368909.3,ENST00000344338.3,ENST00000368955.3,ENST00000330163.4,ENST00000338354.3,ENST00000359586.6 |
| exon_skip_45684 | 10 | 124331829:124331877:124333230:124333278:124335914:124336238 | 124333230:124333278 | ENSG00000187908.11 | ENST00000368956.2,ENST00000368909.3,ENST00000344338.3,ENST00000368955.3,ENST00000330163.4,ENST00000338354.3,ENST00000359586.6 |
| exon_skip_45685 | 10 | 124333230:124333278:124335914:124336238:124337326:124337356 | 124335914:124336238 | ENSG00000187908.11 | ENST00000368956.2,ENST00000368909.3,ENST00000344338.3,ENST00000368955.3,ENST00000330163.4,ENST00000338354.3 |
| exon_skip_45688 | 10 | 124341308:124341341:124342115:124342439:124343837:124343867 | 124342115:124342439 | ENSG00000187908.11 | ENST00000368956.2,ENST00000368909.3,ENST00000338354.3 |
| exon_skip_45689 | 10 | 124341308:124341341:124342115:124342439:124344786:124344825 | 124342115:124342439 | ENSG00000187908.11 | ENST00000344338.3,ENST00000368955.3 |
| exon_skip_45706 | 10 | 124342115:124342439:124343837:124343867:124344786:124344825 | 124343837:124343867 | ENSG00000187908.11 | ENST00000368909.3,ENST00000338354.3 |
| exon_skip_45709 | 10 | 124342115:124342439:124343837:124343867:124357489:124357528 | 124343837:124343867 | ENSG00000187908.11 | ENST00000368956.2 |
| exon_skip_45713 | 10 | 124342115:124342439:124344786:124344825:124345575:124345899 | 124344786:124344825 | ENSG00000187908.11 | ENST00000344338.3,ENST00000368955.3 |
| exon_skip_45729 | 10 | 124344786:124344825:124345575:124345899:124348459:124348783 | 124345575:124345899 | ENSG00000187908.11 | ENST00000368909.3,ENST00000344338.3,ENST00000368955.3,ENST00000338354.3 |
| exon_skip_45734 | 10 | 124345809:124345899:124348459:124348783:124350180:124350210 | 124348459:124348783 | ENSG00000187908.11 | ENST00000368909.3,ENST00000344338.3,ENST00000368955.3,ENST00000338354.3 |
| exon_skip_45741 | 10 | 124348459:124348783:124350180:124350210:124350994:124351033 | 124350180:124350210 | ENSG00000187908.11 | ENST00000368909.3,ENST00000344338.3,ENST00000368955.3,ENST00000338354.3 |
| exon_skip_45750 | 10 | 124350180:124350210:124350994:124351033:124351787:124352111 | 124350994:124351033 | ENSG00000187908.11 | ENST00000368909.3,ENST00000344338.3,ENST00000368955.3,ENST00000338354.3 |
| exon_skip_45754 | 10 | 124350994:124351033:124351787:124352111:124353084:124353114 | 124351787:124352111 | ENSG00000187908.11 | ENST00000368909.3,ENST00000344338.3,ENST00000368955.3,ENST00000338354.3 |
| exon_skip_45767 | 10 | 124354011:124354044:124354818:124355142:124356540:124356570 | 124354818:124355142 | ENSG00000187908.11 | ENST00000368909.3,ENST00000344338.3,ENST00000368955.3,ENST00000330163.4,ENST00000338354.3 |
| exon_skip_45783 | 10 | 124354883:124355142:124356540:124356570:124357489:124357528 | 124356540:124356570 | ENSG00000187908.11 | ENST00000368909.3,ENST00000344338.3,ENST00000368955.3,ENST00000330163.4,ENST00000338354.3 |
| exon_skip_45784 | 10 | 124358428:124358613:124359579:124359609:124360506:124360539 | 124359579:124359609 | ENSG00000187908.11 | ENST00000368956.2,ENST00000368909.3,ENST00000344338.3,ENST00000368955.3,ENST00000330163.4,ENST00000338354.3 |
| exon_skip_45786 | 10 | 124360506:124360539:124361312:124361636:124362615:124362645 | 124361312:124361636 | ENSG00000187908.11 | ENST00000368956.2,ENST00000368909.3,ENST00000368955.3 |
| exon_skip_45787 | 10 | 124364565:124364598:124365371:124365695:124366674:124366704 | 124365371:124365695 | ENSG00000187908.11 | ENST00000368956.2,ENST00000368909.3,ENST00000368955.3 |
| exon_skip_45789 | 10 | 124368624:124368657:124369430:124369754:124370733:124370763 | 124369430:124369754 | ENSG00000187908.11 | ENST00000368909.3,ENST00000344338.3,ENST00000368955.3,ENST00000338354.3 |
| exon_skip_45790 | 10 | 124369430:124369754:124370733:124370763:124372683:124372716 | 124370733:124370763 | ENSG00000187908.11 | ENST00000344338.3,ENST00000338354.3 |
| exon_skip_45791 | 10 | 124372683:124372716:124373489:124373813:124374792:124374822 | 124373489:124373813 | ENSG00000187908.11 | ENST00000344338.3,ENST00000330163.4,ENST00000338354.3 |
| exon_skip_45793 | 10 | 124380572:124380896:124384792:124384819:124385448:124385481 | 124384792:124384819 | ENSG00000187908.11 | ENST00000368956.2,ENST00000368909.3,ENST00000344338.3,ENST00000368955.3,ENST00000330163.4,ENST00000338354.3 |
| exon_skip_45796 | 10 | 124385448:124385481:124389355:124389509:124389803:124390006 | 124389355:124389509 | ENSG00000187908.11 | ENST00000368956.2,ENST00000368909.3,ENST00000344338.3,ENST00000368955.3,ENST00000330163.4,ENST00000338354.3,ENST00000359586.6 |
| exon_skip_45797 | 10 | 124389803:124390006:124390476:124390797:124391370:124391391 | 124390476:124390797 | ENSG00000187908.11 | ENST00000368956.2,ENST00000368909.3,ENST00000344338.3,ENST00000368955.3,ENST00000330163.4,ENST00000338354.3,ENST00000359586.6 |
| exon_skip_45807 | 10 | 124391370:124391391:124392376:124392406:124392706:124392857 | 124392376:124392406 | ENSG00000187908.11 | ENST00000368956.2,ENST00000368909.3,ENST00000344338.3,ENST00000368955.3,ENST00000330163.4,ENST00000338354.3,ENST00000359586.6 |
| exon_skip_45811 | 10 | 124395506:124395715:124396643:124396828:124399555:124399965 | 124396643:124396828 | ENSG00000187908.11 | ENST00000368956.2,ENST00000368909.3,ENST00000344338.3,ENST00000368955.3,ENST00000330163.4,ENST00000338354.3,ENST00000359586.6 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for DMBT1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_45678 | 10 | 124329677:124329725:124330405:124330453:124331829:124331877 | 124330405:124330453 | ENSG00000187908.11 | ENST00000338354.3,ENST00000344338.3,ENST00000330163.4,ENST00000368909.3,ENST00000368955.3,ENST00000368956.2,ENST00000359586.6 |
| exon_skip_45681 | 10 | 124330405:124330453:124331829:124331877:124333230:124333278 | 124331829:124331877 | ENSG00000187908.11 | ENST00000338354.3,ENST00000344338.3,ENST00000330163.4,ENST00000368909.3,ENST00000368955.3,ENST00000368956.2,ENST00000359586.6 |
| exon_skip_45684 | 10 | 124331829:124331877:124333230:124333278:124335914:124336238 | 124333230:124333278 | ENSG00000187908.11 | ENST00000338354.3,ENST00000344338.3,ENST00000330163.4,ENST00000368909.3,ENST00000368955.3,ENST00000368956.2,ENST00000359586.6 |
| exon_skip_45688 | 10 | 124341308:124341341:124342115:124342439:124343837:124343867 | 124342115:124342439 | ENSG00000187908.11 | ENST00000338354.3,ENST00000368909.3,ENST00000368956.2 |
| exon_skip_45689 | 10 | 124341308:124341341:124342115:124342439:124344786:124344825 | 124342115:124342439 | ENSG00000187908.11 | ENST00000344338.3,ENST00000368955.3 |
| exon_skip_45706 | 10 | 124342115:124342439:124343837:124343867:124344786:124344825 | 124343837:124343867 | ENSG00000187908.11 | ENST00000338354.3,ENST00000368909.3 |
| exon_skip_45713 | 10 | 124342115:124342439:124344786:124344825:124345575:124345899 | 124344786:124344825 | ENSG00000187908.11 | ENST00000344338.3,ENST00000368955.3 |
| exon_skip_45729 | 10 | 124344786:124344825:124345575:124345899:124348459:124348783 | 124345575:124345899 | ENSG00000187908.11 | ENST00000338354.3,ENST00000344338.3,ENST00000368909.3,ENST00000368955.3 |
| exon_skip_45734 | 10 | 124345809:124345899:124348459:124348783:124350180:124350210 | 124348459:124348783 | ENSG00000187908.11 | ENST00000338354.3,ENST00000344338.3,ENST00000368909.3,ENST00000368955.3 |
| exon_skip_45741 | 10 | 124348459:124348783:124350180:124350210:124350994:124351033 | 124350180:124350210 | ENSG00000187908.11 | ENST00000338354.3,ENST00000344338.3,ENST00000368909.3,ENST00000368955.3 |
| exon_skip_45754 | 10 | 124350994:124351033:124351787:124352111:124353084:124353114 | 124351787:124352111 | ENSG00000187908.11 | ENST00000338354.3,ENST00000344338.3,ENST00000368909.3,ENST00000368955.3 |
| exon_skip_45767 | 10 | 124354011:124354044:124354818:124355142:124356540:124356570 | 124354818:124355142 | ENSG00000187908.11 | ENST00000338354.3,ENST00000344338.3,ENST00000330163.4,ENST00000368909.3,ENST00000368955.3 |
| exon_skip_45783 | 10 | 124354883:124355142:124356540:124356570:124357489:124357528 | 124356540:124356570 | ENSG00000187908.11 | ENST00000338354.3,ENST00000344338.3,ENST00000330163.4,ENST00000368909.3,ENST00000368955.3 |
| exon_skip_45784 | 10 | 124358428:124358613:124359579:124359609:124360506:124360539 | 124359579:124359609 | ENSG00000187908.11 | ENST00000338354.3,ENST00000344338.3,ENST00000330163.4,ENST00000368909.3,ENST00000368955.3,ENST00000368956.2 |
| exon_skip_45786 | 10 | 124360506:124360539:124361312:124361636:124362615:124362645 | 124361312:124361636 | ENSG00000187908.11 | ENST00000368909.3,ENST00000368955.3,ENST00000368956.2 |
| exon_skip_45787 | 10 | 124364565:124364598:124365371:124365695:124366674:124366704 | 124365371:124365695 | ENSG00000187908.11 | ENST00000368909.3,ENST00000368955.3,ENST00000368956.2 |
| exon_skip_45789 | 10 | 124368624:124368657:124369430:124369754:124370733:124370763 | 124369430:124369754 | ENSG00000187908.11 | ENST00000338354.3,ENST00000344338.3,ENST00000368909.3,ENST00000368955.3 |
| exon_skip_45791 | 10 | 124372683:124372716:124373489:124373813:124374792:124374822 | 124373489:124373813 | ENSG00000187908.11 | ENST00000338354.3,ENST00000344338.3,ENST00000330163.4 |
| exon_skip_45793 | 10 | 124380572:124380896:124384792:124384819:124385448:124385481 | 124384792:124384819 | ENSG00000187908.11 | ENST00000338354.3,ENST00000344338.3,ENST00000330163.4,ENST00000368909.3,ENST00000368955.3,ENST00000368956.2 |
| exon_skip_45796 | 10 | 124385448:124385481:124389355:124389509:124389803:124390006 | 124389355:124389509 | ENSG00000187908.11 | ENST00000338354.3,ENST00000344338.3,ENST00000330163.4,ENST00000368909.3,ENST00000368955.3,ENST00000368956.2,ENST00000359586.6 |
| exon_skip_45797 | 10 | 124389803:124390006:124390476:124390797:124391370:124391391 | 124390476:124390797 | ENSG00000187908.11 | ENST00000338354.3,ENST00000344338.3,ENST00000330163.4,ENST00000368909.3,ENST00000368955.3,ENST00000368956.2,ENST00000359586.6 |
| exon_skip_45807 | 10 | 124391370:124391391:124392376:124392406:124392706:124392857 | 124392376:124392406 | ENSG00000187908.11 | ENST00000338354.3,ENST00000344338.3,ENST00000330163.4,ENST00000368909.3,ENST00000368955.3,ENST00000368956.2,ENST00000359586.6 |
| exon_skip_45811 | 10 | 124395506:124395715:124396643:124396828:124399555:124399965 | 124396643:124396828 | ENSG00000187908.11 | ENST00000338354.3,ENST00000344338.3,ENST00000330163.4,ENST00000368909.3,ENST00000368955.3,ENST00000368956.2,ENST00000359586.6 |
| 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 DMBT1 |
| 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 |
| ENST00000368909 | 124389355 | 124389509 | Frame-shift |
| ENST00000368909 | 124396643 | 124396828 | Frame-shift |
| ENST00000368909 | 124330405 | 124330453 | In-frame |
| ENST00000368909 | 124331829 | 124331877 | In-frame |
| ENST00000368909 | 124333230 | 124333278 | In-frame |
| ENST00000368909 | 124335914 | 124336238 | In-frame |
| ENST00000368909 | 124342115 | 124342439 | In-frame |
| ENST00000368909 | 124343837 | 124343867 | In-frame |
| ENST00000368909 | 124345575 | 124345899 | In-frame |
| ENST00000368909 | 124348459 | 124348783 | In-frame |
| ENST00000368909 | 124350180 | 124350210 | In-frame |
| ENST00000368909 | 124350994 | 124351033 | In-frame |
| ENST00000368909 | 124351787 | 124352111 | In-frame |
| ENST00000368909 | 124354818 | 124355142 | In-frame |
| ENST00000368909 | 124356540 | 124356570 | In-frame |
| ENST00000368909 | 124359579 | 124359609 | In-frame |
| ENST00000368909 | 124361312 | 124361636 | In-frame |
| ENST00000368909 | 124365371 | 124365695 | In-frame |
| ENST00000368909 | 124369430 | 124369754 | In-frame |
| ENST00000368909 | 124384792 | 124384819 | In-frame |
| ENST00000368909 | 124390476 | 124390797 | In-frame |
| ENST00000368909 | 124392376 | 124392406 | 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 |
| ENST00000368909 | 124389355 | 124389509 | Frame-shift |
| ENST00000368909 | 124396643 | 124396828 | Frame-shift |
| ENST00000368909 | 124330405 | 124330453 | In-frame |
| ENST00000368909 | 124331829 | 124331877 | In-frame |
| ENST00000368909 | 124333230 | 124333278 | In-frame |
| ENST00000368909 | 124342115 | 124342439 | In-frame |
| ENST00000368909 | 124343837 | 124343867 | In-frame |
| ENST00000368909 | 124345575 | 124345899 | In-frame |
| ENST00000368909 | 124348459 | 124348783 | In-frame |
| ENST00000368909 | 124350180 | 124350210 | In-frame |
| ENST00000368909 | 124351787 | 124352111 | In-frame |
| ENST00000368909 | 124354818 | 124355142 | In-frame |
| ENST00000368909 | 124356540 | 124356570 | In-frame |
| ENST00000368909 | 124359579 | 124359609 | In-frame |
| ENST00000368909 | 124361312 | 124361636 | In-frame |
| ENST00000368909 | 124365371 | 124365695 | In-frame |
| ENST00000368909 | 124369430 | 124369754 | In-frame |
| ENST00000368909 | 124384792 | 124384819 | In-frame |
| ENST00000368909 | 124390476 | 124390797 | In-frame |
| ENST00000368909 | 124392376 | 124392406 | In-frame |
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Infer the effects of exon skipping event on protein functional features for DMBT1 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| 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 |
| ENST00000368909 | 7703 | 2413 | 124330405 | 124330453 | 246 | 293 | 46 | 62 |
| ENST00000368909 | 7703 | 2413 | 124331829 | 124331877 | 294 | 341 | 62 | 78 |
| ENST00000368909 | 7703 | 2413 | 124333230 | 124333278 | 342 | 389 | 78 | 94 |
| ENST00000368909 | 7703 | 2413 | 124335914 | 124336238 | 390 | 713 | 94 | 202 |
| ENST00000368909 | 7703 | 2413 | 124335914 | 124336238 | 390 | 713 | 94 | 202 |
| ENST00000368909 | 7703 | 2413 | 124335914 | 124336238 | 390 | 713 | 94 | 202 |
| ENST00000368909 | 7703 | 2413 | 124335914 | 124336238 | 390 | 713 | 94 | 202 |
| ENST00000368909 | 7703 | 2413 | 124335914 | 124336238 | 390 | 713 | 94 | 202 |
| ENST00000368909 | 7703 | 2413 | 124335914 | 124336238 | 390 | 713 | 94 | 202 |
| ENST00000368909 | 7703 | 2413 | 124335914 | 124336238 | 390 | 713 | 94 | 202 |
| ENST00000368909 | 7703 | 2413 | 124335914 | 124336238 | 390 | 713 | 94 | 202 |
| ENST00000368909 | 7703 | 2413 | 124335914 | 124336238 | 390 | 713 | 94 | 202 |
| ENST00000368909 | 7703 | 2413 | 124335914 | 124336238 | 390 | 713 | 94 | 202 |
| ENST00000368909 | 7703 | 2413 | 124335914 | 124336238 | 390 | 713 | 94 | 202 |
| ENST00000368909 | 7703 | 2413 | 124335914 | 124336238 | 390 | 713 | 94 | 202 |
| ENST00000368909 | 7703 | 2413 | 124335914 | 124336238 | 390 | 713 | 94 | 202 |
| ENST00000368909 | 7703 | 2413 | 124354818 | 124355142 | 1173 | 1496 | 355 | 463 |
| ENST00000368909 | 7703 | 2413 | 124342115 | 124342439 | 1173 | 1496 | 355 | 463 |
| ENST00000368909 | 7703 | 2413 | 124343837 | 124343867 | 1497 | 1526 | 463 | 473 |
| ENST00000368909 | 7703 | 2413 | 124356540 | 124356570 | 1497 | 1526 | 463 | 473 |
| ENST00000368909 | 7703 | 2413 | 124345575 | 124345899 | 1566 | 1889 | 486 | 594 |
| ENST00000368909 | 7703 | 2413 | 124345575 | 124345899 | 1566 | 1889 | 486 | 594 |
| ENST00000368909 | 7703 | 2413 | 124345575 | 124345899 | 1566 | 1889 | 486 | 594 |
| ENST00000368909 | 7703 | 2413 | 124345575 | 124345899 | 1566 | 1889 | 486 | 594 |
| ENST00000368909 | 7703 | 2413 | 124345575 | 124345899 | 1566 | 1889 | 486 | 594 |
| ENST00000368909 | 7703 | 2413 | 124345575 | 124345899 | 1566 | 1889 | 486 | 594 |
| ENST00000368909 | 7703 | 2413 | 124345575 | 124345899 | 1566 | 1889 | 486 | 594 |
| ENST00000368909 | 7703 | 2413 | 124345575 | 124345899 | 1566 | 1889 | 486 | 594 |
| ENST00000368909 | 7703 | 2413 | 124345575 | 124345899 | 1566 | 1889 | 486 | 594 |
| ENST00000368909 | 7703 | 2413 | 124345575 | 124345899 | 1566 | 1889 | 486 | 594 |
| ENST00000368909 | 7703 | 2413 | 124345575 | 124345899 | 1566 | 1889 | 486 | 594 |
| ENST00000368909 | 7703 | 2413 | 124345575 | 124345899 | 1566 | 1889 | 486 | 594 |
| ENST00000368909 | 7703 | 2413 | 124345575 | 124345899 | 1566 | 1889 | 486 | 594 |
| ENST00000368909 | 7703 | 2413 | 124348459 | 124348783 | 1890 | 2213 | 594 | 702 |
| ENST00000368909 | 7703 | 2413 | 124348459 | 124348783 | 1890 | 2213 | 594 | 702 |
| ENST00000368909 | 7703 | 2413 | 124348459 | 124348783 | 1890 | 2213 | 594 | 702 |
| ENST00000368909 | 7703 | 2413 | 124348459 | 124348783 | 1890 | 2213 | 594 | 702 |
| ENST00000368909 | 7703 | 2413 | 124348459 | 124348783 | 1890 | 2213 | 594 | 702 |
| ENST00000368909 | 7703 | 2413 | 124348459 | 124348783 | 1890 | 2213 | 594 | 702 |
| ENST00000368909 | 7703 | 2413 | 124348459 | 124348783 | 1890 | 2213 | 594 | 702 |
| ENST00000368909 | 7703 | 2413 | 124348459 | 124348783 | 1890 | 2213 | 594 | 702 |
| ENST00000368909 | 7703 | 2413 | 124348459 | 124348783 | 1890 | 2213 | 594 | 702 |
| ENST00000368909 | 7703 | 2413 | 124348459 | 124348783 | 1890 | 2213 | 594 | 702 |
| ENST00000368909 | 7703 | 2413 | 124348459 | 124348783 | 1890 | 2213 | 594 | 702 |
| ENST00000368909 | 7703 | 2413 | 124348459 | 124348783 | 1890 | 2213 | 594 | 702 |
| ENST00000368909 | 7703 | 2413 | 124348459 | 124348783 | 1890 | 2213 | 594 | 702 |
| ENST00000368909 | 7703 | 2413 | 124350180 | 124350210 | 2214 | 2243 | 702 | 712 |
| ENST00000368909 | 7703 | 2413 | 124350994 | 124351033 | 2244 | 2282 | 712 | 725 |
| ENST00000368909 | 7703 | 2413 | 124351787 | 124352111 | 2283 | 2606 | 725 | 833 |
| ENST00000368909 | 7703 | 2413 | 124351787 | 124352111 | 2283 | 2606 | 725 | 833 |
| ENST00000368909 | 7703 | 2413 | 124351787 | 124352111 | 2283 | 2606 | 725 | 833 |
| ENST00000368909 | 7703 | 2413 | 124351787 | 124352111 | 2283 | 2606 | 725 | 833 |
| ENST00000368909 | 7703 | 2413 | 124351787 | 124352111 | 2283 | 2606 | 725 | 833 |
| ENST00000368909 | 7703 | 2413 | 124351787 | 124352111 | 2283 | 2606 | 725 | 833 |
| ENST00000368909 | 7703 | 2413 | 124351787 | 124352111 | 2283 | 2606 | 725 | 833 |
| ENST00000368909 | 7703 | 2413 | 124351787 | 124352111 | 2283 | 2606 | 725 | 833 |
| ENST00000368909 | 7703 | 2413 | 124351787 | 124352111 | 2283 | 2606 | 725 | 833 |
| ENST00000368909 | 7703 | 2413 | 124351787 | 124352111 | 2283 | 2606 | 725 | 833 |
| ENST00000368909 | 7703 | 2413 | 124351787 | 124352111 | 2283 | 2606 | 725 | 833 |
| ENST00000368909 | 7703 | 2413 | 124351787 | 124352111 | 2283 | 2606 | 725 | 833 |
| ENST00000368909 | 7703 | 2413 | 124351787 | 124352111 | 2283 | 2606 | 725 | 833 |
| ENST00000368909 | 7703 | 2413 | 124354818 | 124355142 | 2670 | 2993 | 854 | 962 |
| ENST00000368909 | 7703 | 2413 | 124354818 | 124355142 | 2670 | 2993 | 854 | 962 |
| ENST00000368909 | 7703 | 2413 | 124354818 | 124355142 | 2670 | 2993 | 854 | 962 |
| ENST00000368909 | 7703 | 2413 | 124354818 | 124355142 | 2670 | 2993 | 854 | 962 |
| ENST00000368909 | 7703 | 2413 | 124354818 | 124355142 | 2670 | 2993 | 854 | 962 |
| ENST00000368909 | 7703 | 2413 | 124354818 | 124355142 | 2670 | 2993 | 854 | 962 |
| ENST00000368909 | 7703 | 2413 | 124354818 | 124355142 | 2670 | 2993 | 854 | 962 |
| ENST00000368909 | 7703 | 2413 | 124354818 | 124355142 | 2670 | 2993 | 854 | 962 |
| ENST00000368909 | 7703 | 2413 | 124354818 | 124355142 | 2670 | 2993 | 854 | 962 |
| ENST00000368909 | 7703 | 2413 | 124354818 | 124355142 | 2670 | 2993 | 854 | 962 |
| ENST00000368909 | 7703 | 2413 | 124354818 | 124355142 | 2670 | 2993 | 854 | 962 |
| ENST00000368909 | 7703 | 2413 | 124354818 | 124355142 | 2670 | 2993 | 854 | 962 |
| ENST00000368909 | 7703 | 2413 | 124342115 | 124342439 | 2670 | 2993 | 854 | 962 |
| ENST00000368909 | 7703 | 2413 | 124342115 | 124342439 | 2670 | 2993 | 854 | 962 |
| ENST00000368909 | 7703 | 2413 | 124342115 | 124342439 | 2670 | 2993 | 854 | 962 |
| ENST00000368909 | 7703 | 2413 | 124342115 | 124342439 | 2670 | 2993 | 854 | 962 |
| ENST00000368909 | 7703 | 2413 | 124342115 | 124342439 | 2670 | 2993 | 854 | 962 |
| ENST00000368909 | 7703 | 2413 | 124342115 | 124342439 | 2670 | 2993 | 854 | 962 |
| ENST00000368909 | 7703 | 2413 | 124342115 | 124342439 | 2670 | 2993 | 854 | 962 |
| ENST00000368909 | 7703 | 2413 | 124342115 | 124342439 | 2670 | 2993 | 854 | 962 |
| ENST00000368909 | 7703 | 2413 | 124342115 | 124342439 | 2670 | 2993 | 854 | 962 |
| ENST00000368909 | 7703 | 2413 | 124342115 | 124342439 | 2670 | 2993 | 854 | 962 |
| ENST00000368909 | 7703 | 2413 | 124342115 | 124342439 | 2670 | 2993 | 854 | 962 |
| ENST00000368909 | 7703 | 2413 | 124342115 | 124342439 | 2670 | 2993 | 854 | 962 |
| ENST00000368909 | 7703 | 2413 | 124343837 | 124343867 | 2994 | 3023 | 962 | 972 |
| ENST00000368909 | 7703 | 2413 | 124356540 | 124356570 | 2994 | 3023 | 962 | 972 |
| ENST00000368909 | 7703 | 2413 | 124359579 | 124359609 | 3387 | 3416 | 1093 | 1103 |
| ENST00000368909 | 7703 | 2413 | 124361312 | 124361636 | 3450 | 3773 | 1114 | 1222 |
| ENST00000368909 | 7703 | 2413 | 124361312 | 124361636 | 3450 | 3773 | 1114 | 1222 |
| ENST00000368909 | 7703 | 2413 | 124361312 | 124361636 | 3450 | 3773 | 1114 | 1222 |
| ENST00000368909 | 7703 | 2413 | 124361312 | 124361636 | 3450 | 3773 | 1114 | 1222 |
| ENST00000368909 | 7703 | 2413 | 124361312 | 124361636 | 3450 | 3773 | 1114 | 1222 |
| ENST00000368909 | 7703 | 2413 | 124361312 | 124361636 | 3450 | 3773 | 1114 | 1222 |
| ENST00000368909 | 7703 | 2413 | 124361312 | 124361636 | 3450 | 3773 | 1114 | 1222 |
| ENST00000368909 | 7703 | 2413 | 124361312 | 124361636 | 3450 | 3773 | 1114 | 1222 |
| ENST00000368909 | 7703 | 2413 | 124361312 | 124361636 | 3450 | 3773 | 1114 | 1222 |
| ENST00000368909 | 7703 | 2413 | 124361312 | 124361636 | 3450 | 3773 | 1114 | 1222 |
| ENST00000368909 | 7703 | 2413 | 124361312 | 124361636 | 3450 | 3773 | 1114 | 1222 |
| ENST00000368909 | 7703 | 2413 | 124361312 | 124361636 | 3450 | 3773 | 1114 | 1222 |
| ENST00000368909 | 7703 | 2413 | 124361312 | 124361636 | 3450 | 3773 | 1114 | 1222 |
| ENST00000368909 | 7703 | 2413 | 124365371 | 124365695 | 3837 | 4160 | 1243 | 1351 |
| ENST00000368909 | 7703 | 2413 | 124369430 | 124369754 | 3837 | 4160 | 1243 | 1351 |
| ENST00000368909 | 7703 | 2413 | 124365371 | 124365695 | 4224 | 4547 | 1372 | 1480 |
| ENST00000368909 | 7703 | 2413 | 124365371 | 124365695 | 4224 | 4547 | 1372 | 1480 |
| ENST00000368909 | 7703 | 2413 | 124365371 | 124365695 | 4224 | 4547 | 1372 | 1480 |
| ENST00000368909 | 7703 | 2413 | 124365371 | 124365695 | 4224 | 4547 | 1372 | 1480 |
| ENST00000368909 | 7703 | 2413 | 124365371 | 124365695 | 4224 | 4547 | 1372 | 1480 |
| ENST00000368909 | 7703 | 2413 | 124365371 | 124365695 | 4224 | 4547 | 1372 | 1480 |
| ENST00000368909 | 7703 | 2413 | 124365371 | 124365695 | 4224 | 4547 | 1372 | 1480 |
| ENST00000368909 | 7703 | 2413 | 124365371 | 124365695 | 4224 | 4547 | 1372 | 1480 |
| ENST00000368909 | 7703 | 2413 | 124365371 | 124365695 | 4224 | 4547 | 1372 | 1480 |
| ENST00000368909 | 7703 | 2413 | 124365371 | 124365695 | 4224 | 4547 | 1372 | 1480 |
| ENST00000368909 | 7703 | 2413 | 124365371 | 124365695 | 4224 | 4547 | 1372 | 1480 |
| ENST00000368909 | 7703 | 2413 | 124365371 | 124365695 | 4224 | 4547 | 1372 | 1480 |
| ENST00000368909 | 7703 | 2413 | 124369430 | 124369754 | 4224 | 4547 | 1372 | 1480 |
| ENST00000368909 | 7703 | 2413 | 124369430 | 124369754 | 4224 | 4547 | 1372 | 1480 |
| ENST00000368909 | 7703 | 2413 | 124369430 | 124369754 | 4224 | 4547 | 1372 | 1480 |
| ENST00000368909 | 7703 | 2413 | 124369430 | 124369754 | 4224 | 4547 | 1372 | 1480 |
| ENST00000368909 | 7703 | 2413 | 124369430 | 124369754 | 4224 | 4547 | 1372 | 1480 |
| ENST00000368909 | 7703 | 2413 | 124369430 | 124369754 | 4224 | 4547 | 1372 | 1480 |
| ENST00000368909 | 7703 | 2413 | 124369430 | 124369754 | 4224 | 4547 | 1372 | 1480 |
| ENST00000368909 | 7703 | 2413 | 124369430 | 124369754 | 4224 | 4547 | 1372 | 1480 |
| ENST00000368909 | 7703 | 2413 | 124369430 | 124369754 | 4224 | 4547 | 1372 | 1480 |
| ENST00000368909 | 7703 | 2413 | 124369430 | 124369754 | 4224 | 4547 | 1372 | 1480 |
| ENST00000368909 | 7703 | 2413 | 124369430 | 124369754 | 4224 | 4547 | 1372 | 1480 |
| ENST00000368909 | 7703 | 2413 | 124369430 | 124369754 | 4224 | 4547 | 1372 | 1480 |
| ENST00000368909 | 7703 | 2413 | 124390476 | 124390797 | 5745 | 6065 | 1879 | 1986 |
| ENST00000368909 | 7703 | 2413 | 124392376 | 124392406 | 6087 | 6116 | 1993 | 2003 |
| 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 |
| ENST00000368909 | 7703 | 2413 | 124330405 | 124330453 | 246 | 293 | 46 | 62 |
| ENST00000368909 | 7703 | 2413 | 124331829 | 124331877 | 294 | 341 | 62 | 78 |
| ENST00000368909 | 7703 | 2413 | 124333230 | 124333278 | 342 | 389 | 78 | 94 |
| ENST00000368909 | 7703 | 2413 | 124342115 | 124342439 | 1173 | 1496 | 355 | 463 |
| ENST00000368909 | 7703 | 2413 | 124354818 | 124355142 | 1173 | 1496 | 355 | 463 |
| ENST00000368909 | 7703 | 2413 | 124343837 | 124343867 | 1497 | 1526 | 463 | 473 |
| ENST00000368909 | 7703 | 2413 | 124356540 | 124356570 | 1497 | 1526 | 463 | 473 |
| ENST00000368909 | 7703 | 2413 | 124345575 | 124345899 | 1566 | 1889 | 486 | 594 |
| ENST00000368909 | 7703 | 2413 | 124345575 | 124345899 | 1566 | 1889 | 486 | 594 |
| ENST00000368909 | 7703 | 2413 | 124345575 | 124345899 | 1566 | 1889 | 486 | 594 |
| ENST00000368909 | 7703 | 2413 | 124345575 | 124345899 | 1566 | 1889 | 486 | 594 |
| ENST00000368909 | 7703 | 2413 | 124345575 | 124345899 | 1566 | 1889 | 486 | 594 |
| ENST00000368909 | 7703 | 2413 | 124345575 | 124345899 | 1566 | 1889 | 486 | 594 |
| ENST00000368909 | 7703 | 2413 | 124345575 | 124345899 | 1566 | 1889 | 486 | 594 |
| ENST00000368909 | 7703 | 2413 | 124345575 | 124345899 | 1566 | 1889 | 486 | 594 |
| ENST00000368909 | 7703 | 2413 | 124345575 | 124345899 | 1566 | 1889 | 486 | 594 |
| ENST00000368909 | 7703 | 2413 | 124345575 | 124345899 | 1566 | 1889 | 486 | 594 |
| ENST00000368909 | 7703 | 2413 | 124345575 | 124345899 | 1566 | 1889 | 486 | 594 |
| ENST00000368909 | 7703 | 2413 | 124345575 | 124345899 | 1566 | 1889 | 486 | 594 |
| ENST00000368909 | 7703 | 2413 | 124345575 | 124345899 | 1566 | 1889 | 486 | 594 |
| ENST00000368909 | 7703 | 2413 | 124348459 | 124348783 | 1890 | 2213 | 594 | 702 |
| ENST00000368909 | 7703 | 2413 | 124348459 | 124348783 | 1890 | 2213 | 594 | 702 |
| ENST00000368909 | 7703 | 2413 | 124348459 | 124348783 | 1890 | 2213 | 594 | 702 |
| ENST00000368909 | 7703 | 2413 | 124348459 | 124348783 | 1890 | 2213 | 594 | 702 |
| ENST00000368909 | 7703 | 2413 | 124348459 | 124348783 | 1890 | 2213 | 594 | 702 |
| ENST00000368909 | 7703 | 2413 | 124348459 | 124348783 | 1890 | 2213 | 594 | 702 |
| ENST00000368909 | 7703 | 2413 | 124348459 | 124348783 | 1890 | 2213 | 594 | 702 |
| ENST00000368909 | 7703 | 2413 | 124348459 | 124348783 | 1890 | 2213 | 594 | 702 |
| ENST00000368909 | 7703 | 2413 | 124348459 | 124348783 | 1890 | 2213 | 594 | 702 |
| ENST00000368909 | 7703 | 2413 | 124348459 | 124348783 | 1890 | 2213 | 594 | 702 |
| ENST00000368909 | 7703 | 2413 | 124348459 | 124348783 | 1890 | 2213 | 594 | 702 |
| ENST00000368909 | 7703 | 2413 | 124348459 | 124348783 | 1890 | 2213 | 594 | 702 |
| ENST00000368909 | 7703 | 2413 | 124348459 | 124348783 | 1890 | 2213 | 594 | 702 |
| ENST00000368909 | 7703 | 2413 | 124350180 | 124350210 | 2214 | 2243 | 702 | 712 |
| ENST00000368909 | 7703 | 2413 | 124351787 | 124352111 | 2283 | 2606 | 725 | 833 |
| ENST00000368909 | 7703 | 2413 | 124351787 | 124352111 | 2283 | 2606 | 725 | 833 |
| ENST00000368909 | 7703 | 2413 | 124351787 | 124352111 | 2283 | 2606 | 725 | 833 |
| ENST00000368909 | 7703 | 2413 | 124351787 | 124352111 | 2283 | 2606 | 725 | 833 |
| ENST00000368909 | 7703 | 2413 | 124351787 | 124352111 | 2283 | 2606 | 725 | 833 |
| ENST00000368909 | 7703 | 2413 | 124351787 | 124352111 | 2283 | 2606 | 725 | 833 |
| ENST00000368909 | 7703 | 2413 | 124351787 | 124352111 | 2283 | 2606 | 725 | 833 |
| ENST00000368909 | 7703 | 2413 | 124351787 | 124352111 | 2283 | 2606 | 725 | 833 |
| ENST00000368909 | 7703 | 2413 | 124351787 | 124352111 | 2283 | 2606 | 725 | 833 |
| ENST00000368909 | 7703 | 2413 | 124351787 | 124352111 | 2283 | 2606 | 725 | 833 |
| ENST00000368909 | 7703 | 2413 | 124351787 | 124352111 | 2283 | 2606 | 725 | 833 |
| ENST00000368909 | 7703 | 2413 | 124351787 | 124352111 | 2283 | 2606 | 725 | 833 |
| ENST00000368909 | 7703 | 2413 | 124351787 | 124352111 | 2283 | 2606 | 725 | 833 |
| ENST00000368909 | 7703 | 2413 | 124342115 | 124342439 | 2670 | 2993 | 854 | 962 |
| ENST00000368909 | 7703 | 2413 | 124342115 | 124342439 | 2670 | 2993 | 854 | 962 |
| ENST00000368909 | 7703 | 2413 | 124342115 | 124342439 | 2670 | 2993 | 854 | 962 |
| ENST00000368909 | 7703 | 2413 | 124342115 | 124342439 | 2670 | 2993 | 854 | 962 |
| ENST00000368909 | 7703 | 2413 | 124342115 | 124342439 | 2670 | 2993 | 854 | 962 |
| ENST00000368909 | 7703 | 2413 | 124342115 | 124342439 | 2670 | 2993 | 854 | 962 |
| ENST00000368909 | 7703 | 2413 | 124342115 | 124342439 | 2670 | 2993 | 854 | 962 |
| ENST00000368909 | 7703 | 2413 | 124342115 | 124342439 | 2670 | 2993 | 854 | 962 |
| ENST00000368909 | 7703 | 2413 | 124342115 | 124342439 | 2670 | 2993 | 854 | 962 |
| ENST00000368909 | 7703 | 2413 | 124342115 | 124342439 | 2670 | 2993 | 854 | 962 |
| ENST00000368909 | 7703 | 2413 | 124342115 | 124342439 | 2670 | 2993 | 854 | 962 |
| ENST00000368909 | 7703 | 2413 | 124342115 | 124342439 | 2670 | 2993 | 854 | 962 |
| ENST00000368909 | 7703 | 2413 | 124354818 | 124355142 | 2670 | 2993 | 854 | 962 |
| ENST00000368909 | 7703 | 2413 | 124354818 | 124355142 | 2670 | 2993 | 854 | 962 |
| ENST00000368909 | 7703 | 2413 | 124354818 | 124355142 | 2670 | 2993 | 854 | 962 |
| ENST00000368909 | 7703 | 2413 | 124354818 | 124355142 | 2670 | 2993 | 854 | 962 |
| ENST00000368909 | 7703 | 2413 | 124354818 | 124355142 | 2670 | 2993 | 854 | 962 |
| ENST00000368909 | 7703 | 2413 | 124354818 | 124355142 | 2670 | 2993 | 854 | 962 |
| ENST00000368909 | 7703 | 2413 | 124354818 | 124355142 | 2670 | 2993 | 854 | 962 |
| ENST00000368909 | 7703 | 2413 | 124354818 | 124355142 | 2670 | 2993 | 854 | 962 |
| ENST00000368909 | 7703 | 2413 | 124354818 | 124355142 | 2670 | 2993 | 854 | 962 |
| ENST00000368909 | 7703 | 2413 | 124354818 | 124355142 | 2670 | 2993 | 854 | 962 |
| ENST00000368909 | 7703 | 2413 | 124354818 | 124355142 | 2670 | 2993 | 854 | 962 |
| ENST00000368909 | 7703 | 2413 | 124354818 | 124355142 | 2670 | 2993 | 854 | 962 |
| ENST00000368909 | 7703 | 2413 | 124343837 | 124343867 | 2994 | 3023 | 962 | 972 |
| ENST00000368909 | 7703 | 2413 | 124356540 | 124356570 | 2994 | 3023 | 962 | 972 |
| ENST00000368909 | 7703 | 2413 | 124359579 | 124359609 | 3387 | 3416 | 1093 | 1103 |
| ENST00000368909 | 7703 | 2413 | 124361312 | 124361636 | 3450 | 3773 | 1114 | 1222 |
| ENST00000368909 | 7703 | 2413 | 124361312 | 124361636 | 3450 | 3773 | 1114 | 1222 |
| ENST00000368909 | 7703 | 2413 | 124361312 | 124361636 | 3450 | 3773 | 1114 | 1222 |
| ENST00000368909 | 7703 | 2413 | 124361312 | 124361636 | 3450 | 3773 | 1114 | 1222 |
| ENST00000368909 | 7703 | 2413 | 124361312 | 124361636 | 3450 | 3773 | 1114 | 1222 |
| ENST00000368909 | 7703 | 2413 | 124361312 | 124361636 | 3450 | 3773 | 1114 | 1222 |
| ENST00000368909 | 7703 | 2413 | 124361312 | 124361636 | 3450 | 3773 | 1114 | 1222 |
| ENST00000368909 | 7703 | 2413 | 124361312 | 124361636 | 3450 | 3773 | 1114 | 1222 |
| ENST00000368909 | 7703 | 2413 | 124361312 | 124361636 | 3450 | 3773 | 1114 | 1222 |
| ENST00000368909 | 7703 | 2413 | 124361312 | 124361636 | 3450 | 3773 | 1114 | 1222 |
| ENST00000368909 | 7703 | 2413 | 124361312 | 124361636 | 3450 | 3773 | 1114 | 1222 |
| ENST00000368909 | 7703 | 2413 | 124361312 | 124361636 | 3450 | 3773 | 1114 | 1222 |
| ENST00000368909 | 7703 | 2413 | 124361312 | 124361636 | 3450 | 3773 | 1114 | 1222 |
| ENST00000368909 | 7703 | 2413 | 124365371 | 124365695 | 3837 | 4160 | 1243 | 1351 |
| ENST00000368909 | 7703 | 2413 | 124369430 | 124369754 | 3837 | 4160 | 1243 | 1351 |
| ENST00000368909 | 7703 | 2413 | 124365371 | 124365695 | 4224 | 4547 | 1372 | 1480 |
| ENST00000368909 | 7703 | 2413 | 124365371 | 124365695 | 4224 | 4547 | 1372 | 1480 |
| ENST00000368909 | 7703 | 2413 | 124365371 | 124365695 | 4224 | 4547 | 1372 | 1480 |
| ENST00000368909 | 7703 | 2413 | 124365371 | 124365695 | 4224 | 4547 | 1372 | 1480 |
| ENST00000368909 | 7703 | 2413 | 124365371 | 124365695 | 4224 | 4547 | 1372 | 1480 |
| ENST00000368909 | 7703 | 2413 | 124365371 | 124365695 | 4224 | 4547 | 1372 | 1480 |
| ENST00000368909 | 7703 | 2413 | 124365371 | 124365695 | 4224 | 4547 | 1372 | 1480 |
| ENST00000368909 | 7703 | 2413 | 124365371 | 124365695 | 4224 | 4547 | 1372 | 1480 |
| ENST00000368909 | 7703 | 2413 | 124365371 | 124365695 | 4224 | 4547 | 1372 | 1480 |
| ENST00000368909 | 7703 | 2413 | 124365371 | 124365695 | 4224 | 4547 | 1372 | 1480 |
| ENST00000368909 | 7703 | 2413 | 124365371 | 124365695 | 4224 | 4547 | 1372 | 1480 |
| ENST00000368909 | 7703 | 2413 | 124365371 | 124365695 | 4224 | 4547 | 1372 | 1480 |
| ENST00000368909 | 7703 | 2413 | 124369430 | 124369754 | 4224 | 4547 | 1372 | 1480 |
| ENST00000368909 | 7703 | 2413 | 124369430 | 124369754 | 4224 | 4547 | 1372 | 1480 |
| ENST00000368909 | 7703 | 2413 | 124369430 | 124369754 | 4224 | 4547 | 1372 | 1480 |
| ENST00000368909 | 7703 | 2413 | 124369430 | 124369754 | 4224 | 4547 | 1372 | 1480 |
| ENST00000368909 | 7703 | 2413 | 124369430 | 124369754 | 4224 | 4547 | 1372 | 1480 |
| ENST00000368909 | 7703 | 2413 | 124369430 | 124369754 | 4224 | 4547 | 1372 | 1480 |
| ENST00000368909 | 7703 | 2413 | 124369430 | 124369754 | 4224 | 4547 | 1372 | 1480 |
| ENST00000368909 | 7703 | 2413 | 124369430 | 124369754 | 4224 | 4547 | 1372 | 1480 |
| ENST00000368909 | 7703 | 2413 | 124369430 | 124369754 | 4224 | 4547 | 1372 | 1480 |
| ENST00000368909 | 7703 | 2413 | 124369430 | 124369754 | 4224 | 4547 | 1372 | 1480 |
| ENST00000368909 | 7703 | 2413 | 124369430 | 124369754 | 4224 | 4547 | 1372 | 1480 |
| ENST00000368909 | 7703 | 2413 | 124369430 | 124369754 | 4224 | 4547 | 1372 | 1480 |
| ENST00000368909 | 7703 | 2413 | 124390476 | 124390797 | 5745 | 6065 | 1879 | 1986 |
| ENST00000368909 | 7703 | 2413 | 124392376 | 124392406 | 6087 | 6116 | 1993 | 2003 |
| 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 DMBT1 |
| - 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. |
| - 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-A39Y-01 | exon_skip_45729 | 124345576 | 124345899 | 124345751 | 124345751 | Frame_Shift_Del | A | - | p.G545fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_45729 | 124345576 | 124345899 | 124345835 | 124345835 | Frame_Shift_Del | C | - | p.C573fs |
| STAD | TCGA-BR-8372-01 | exon_skip_45789 | 124369431 | 124369754 | 124369595 | 124369595 | Frame_Shift_Del | T | - | p.T1298fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_45797 | 124390477 | 124390797 | 124390567 | 124390567 | Frame_Shift_Del | T | - | p.V1910fs |
| LIHC | TCGA-CC-A123-01 | exon_skip_45754 | 124351788 | 124352111 | 124351943 | 124351944 | Frame_Shift_Ins | - | G | p.G778fs |
| BLCA | TCGA-ZF-AA51-01 | exon_skip_45685 | 124335915 | 124336238 | 124336080 | 124336080 | Nonsense_Mutation | C | G | p.S150* |
| HNSC | TCGA-CX-7086-01 | exon_skip_45685 | 124335915 | 124336238 | 124336113 | 124336113 | Nonsense_Mutation | C | A | p.S161* |
| SKCM | TCGA-FW-A3R5-06 | exon_skip_45729 | 124345576 | 124345899 | 124345685 | 124345685 | Nonsense_Mutation | G | A | p.W523* |
| SKCM | TCGA-FW-A3R5-06 | exon_skip_45729 | 124345576 | 124345899 | 124345685 | 124345685 | Nonsense_Mutation | G | A | p.W523X |
| CESC | TCGA-C5-A1BK-01 | exon_skip_45734 | 124348460 | 124348783 | 124348625 | 124348625 | Nonsense_Mutation | C | A | p.S650* |
| READ | TCGA-F5-6814-01 | exon_skip_45754 | 124351788 | 124352111 | 124352047 | 124352047 | Nonsense_Mutation | C | A | p.C812X |
| UCEC | TCGA-D1-A103-01 | exon_skip_45786 | 124361313 | 124361636 | 124361566 | 124361566 | Nonsense_Mutation | G | A | p.W1199* |
| UCEC | TCGA-AP-A0LM-01 | exon_skip_45796 | 124389356 | 124389509 | 124389463 | 124389463 | Nonsense_Mutation | G | T | p.E1797* |
| SKCM | TCGA-W3-AA1R-06 | exon_skip_45797 | 124390477 | 124390797 | 124390582 | 124390582 | Nonsense_Mutation | G | A | p.W1915* |
| GBM | TCGA-19-1790-01 | exon_skip_45797 | 124390477 | 124390797 | 124390740 | 124390740 | Nonsense_Mutation | C | T | p.R1968* |
| PAAD | TCGA-IB-7651-01 | exon_skip_45684 | 124333231 | 124333278 | 124333230 | 124333230 | Splice_Site | G | T | . |
| LUAD | TCGA-55-7903-01 | exon_skip_45684 | 124333231 | 124333278 | 124333279 | 124333279 | Splice_Site | G | A | p.G95_splice |
| UCEC | TCGA-AP-A05D-01 | exon_skip_45783 | 124356541 | 124356570 | 124356572 | 124356573 | Splice_Site | - | GA | p.D973_splice |
| SKCM | TCGA-EE-A29E-06 | exon_skip_45796 | 124389356 | 124389509 | 124389355 | 124389355 | Splice_Site | G | A | . |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-BR-8372-01 |
| Cancer type: STAD | |
| ESID: exon_skip_45789 | |
| Skipped exon start: 124369431 | |
| Skipped exon end: 124369754 | |
| Mutation start: 124369595 | |
| Mutation end: 124369595 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: T | |
| Mutation seq: - | |
| AAchange: p.T1298fs | |
exon_skip_112411_STAD_TCGA-BR-8372-01.png | |
exon_skip_135114_STAD_TCGA-BR-8372-01.png | |
exon_skip_137802_STAD_TCGA-BR-8372-01.png | |
exon_skip_347779_STAD_TCGA-BR-8372-01.png | |
exon_skip_347781_STAD_TCGA-BR-8372-01.png | |
exon_skip_45789_STAD_TCGA-BR-8372-01.png | |
exon_skip_484840_STAD_TCGA-BR-8372-01.png | |
exon_skip_5861_STAD_TCGA-BR-8372-01.png | |
exon_skip_79676_STAD_TCGA-BR-8372-01.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 |
| PATU8902_PANCREAS | 124335915 | 124336238 | 124336060 | 124336060 | Frame_Shift_Del | G | - | p.L143fs |
| MM415_SKIN | 124345576 | 124345899 | 124345799 | 124345799 | Frame_Shift_Del | G | - | p.V561fs |
| DU145_PROSTATE | 124330406 | 124330453 | 124330437 | 124330437 | Missense_Mutation | G | T | p.E57D |
| NCIH1339_LUNG | 124331830 | 124331877 | 124331857 | 124331857 | Missense_Mutation | T | A | p.L72Q |
| GP2D_LARGE_INTESTINE | 124331830 | 124331877 | 124331868 | 124331868 | Missense_Mutation | G | A | p.V76I |
| GP5D_LARGE_INTESTINE | 124331830 | 124331877 | 124331868 | 124331868 | Missense_Mutation | G | A | p.V76I |
| HUH1_LIVER | 124333231 | 124333278 | 124333243 | 124333243 | Missense_Mutation | C | T | p.P83L |
| SC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 124335915 | 124336238 | 124335927 | 124335927 | Missense_Mutation | G | C | p.G99A |
| SCI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 124335915 | 124336238 | 124335927 | 124335927 | Missense_Mutation | G | C | p.G99A |
| MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 124335915 | 124336238 | 124335967 | 124335967 | Missense_Mutation | G | T | p.Q112H |
| P30OHK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 124335915 | 124336238 | 124335972 | 124335972 | Missense_Mutation | G | A | p.R114Q |
| SW684_SOFT_TISSUE | 124335915 | 124336238 | 124335977 | 124335977 | Missense_Mutation | G | A | p.E116K |
| JHH5_LIVER | 124335915 | 124336238 | 124336005 | 124336005 | Missense_Mutation | C | T | p.T125I |
| NCIH1648_LUNG | 124335915 | 124336238 | 124336061 | 124336061 | Missense_Mutation | G | T | p.G144C |
| NCIH1648_LUNG | 124335915 | 124336238 | 124336112 | 124336112 | Missense_Mutation | T | A | p.S161T |
| D425_CENTRAL_NERVOUS_SYSTEM | 124335915 | 124336238 | 124336122 | 124336122 | Missense_Mutation | T | G | p.I164S |
| SIHA_CERVIX | 124335915 | 124336238 | 124336125 | 124336126 | Missense_Mutation | CC | TT | p.A165V |
| SW48_LARGE_INTESTINE | 124335915 | 124336238 | 124336143 | 124336143 | Missense_Mutation | G | A | p.C171Y |
| NCIH1770_LUNG | 124335915 | 124336238 | 124336169 | 124336169 | Missense_Mutation | A | C | p.S180R |
| KMRC1_KIDNEY | 124335915 | 124336238 | 124336226 | 124336226 | Missense_Mutation | G | A | p.V199I |
| L33_PANCREAS | 124342116 | 124342439 | 124342340 | 124342340 | Missense_Mutation | C | T | p.R431C |
| CAPAN1_PANCREAS | 124345576 | 124345899 | 124345581 | 124345581 | Missense_Mutation | G | A | p.E489K |
| ST486_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 124345576 | 124345899 | 124345601 | 124345601 | Missense_Mutation | G | C | p.R495S |
| VMRCLCD_LUNG | 124345576 | 124345899 | 124345614 | 124345615 | Missense_Mutation | GG | AT | p.G500I |
| HS839T_FIBROBLAST | 124345576 | 124345899 | 124345622 | 124345622 | Missense_Mutation | G | C | p.R502S |
| PC9_LUNG | 124345576 | 124345899 | 124345727 | 124345727 | Missense_Mutation | T | G | p.C537W |
| MCC13_SKIN | 124345576 | 124345899 | 124345750 | 124345750 | Missense_Mutation | G | A | p.G545E |
| HT115_LARGE_INTESTINE | 124345576 | 124345899 | 124345755 | 124345755 | Missense_Mutation | G | A | p.A547T |
| SN12C_KIDNEY | 124345576 | 124345899 | 124345780 | 124345780 | Missense_Mutation | C | A | p.P555H |
| SNUC5_LARGE_INTESTINE | 124345576 | 124345899 | 124345818 | 124345818 | Missense_Mutation | T | C | p.S568P |
| T47D_BREAST | 124345576 | 124345899 | 124345833 | 124345833 | Missense_Mutation | T | A | p.C573S |
| SAOS2_BONE | 124345576 | 124345899 | 124345872 | 124345872 | Missense_Mutation | A | C | p.S586R |
| HCT15_LARGE_INTESTINE | 124345576 | 124345899 | 124345881 | 124345881 | Missense_Mutation | G | A | p.A589T |
| HT55_LARGE_INTESTINE | 124348460 | 124348783 | 124348483 | 124348483 | Missense_Mutation | A | T | p.R603W |
| NCIH358_LUNG | 124348460 | 124348783 | 124348535 | 124348535 | Missense_Mutation | G | T | p.R620L |
| SNU1041_UPPER_AERODIGESTIVE_TRACT | 124348460 | 124348783 | 124348640 | 124348641 | Missense_Mutation | CC | AA | p.A655E |
| JHUEM2_ENDOMETRIUM | 124348460 | 124348783 | 124348679 | 124348679 | Missense_Mutation | A | T | p.D668V |
| A172_CENTRAL_NERVOUS_SYSTEM | 124348460 | 124348783 | 124348708 | 124348708 | Missense_Mutation | C | G | p.L678V |
| NB13_AUTONOMIC_GANGLIA | 124348460 | 124348783 | 124348715 | 124348715 | Missense_Mutation | G | A | p.S680N |
| UACC62_SKIN | 124348460 | 124348783 | 124348724 | 124348724 | Missense_Mutation | A | G | p.N683S |
| ES4_BONE | 124348460 | 124348783 | 124348725 | 124348725 | Missense_Mutation | C | A | p.N683K |
| SKMEL5_SKIN | 124348460 | 124348783 | 124348756 | 124348756 | Missense_Mutation | C | T | p.H694Y |
| PECAPJ41CLONED2_UPPER_AERODIGESTIVE_TRACT | 124348460 | 124348783 | 124348781 | 124348781 | Missense_Mutation | C | T | p.S702L |
| SNUC5_LARGE_INTESTINE | 124350181 | 124350210 | 124350193 | 124350193 | Missense_Mutation | G | A | p.R707Q |
| IOMMLEE_CENTRAL_NERVOUS_SYSTEM | 124350181 | 124350210 | 124350193 | 124350193 | Missense_Mutation | G | A | p.R707Q |
| OVCAR5_OVARY | 124350995 | 124351033 | 124350998 | 124350998 | Missense_Mutation | C | G | p.T714R |
| HT1197_URINARY_TRACT | 124351788 | 124352111 | 124351891 | 124351891 | Missense_Mutation | C | A | p.D760E |
| HCC1569_BREAST | 124351788 | 124352111 | 124351985 | 124351985 | Missense_Mutation | T | G | p.S792A |
| NCIH1770_LUNG | 124351788 | 124352111 | 124352006 | 124352006 | Missense_Mutation | G | A | p.D799N |
| HCC2998_LARGE_INTESTINE | 124351788 | 124352111 | 124352013 | 124352013 | Missense_Mutation | G | A | p.R801H |
| WM1799_SKIN | 124351788 | 124352111 | 124352057 | 124352057 | Missense_Mutation | G | A | p.G816S |
| NCIH1339_LUNG | 124354819 | 124355142 | 124355098 | 124355098 | Missense_Mutation | C | T | p.S948F |
| KYSE140_OESOPHAGUS | 124359580 | 124359609 | 124359587 | 124359587 | Missense_Mutation | G | T | p.Q1096H |
| HUTU80_SMALL_INTESTINE | 124359580 | 124359609 | 124359591 | 124359591 | Missense_Mutation | C | T | p.R1098W |
| NCIH720_LUNG | 124359580 | 124359609 | 124359594 | 124359594 | Missense_Mutation | C | G | p.P1099A |
| 451LU_SKIN | 124361313 | 124361636 | 124361493 | 124361493 | Missense_Mutation | C | T | p.A1175V |
| MCC26_SKIN | 124361313 | 124361636 | 124361511 | 124361511 | Missense_Mutation | C | T | p.S1181L |
| SH10TC_STOMACH | 124361313 | 124361636 | 124361517 | 124361517 | Missense_Mutation | C | T | p.P1183L |
| CAL27_UPPER_AERODIGESTIVE_TRACT | 124389356 | 124389509 | 124389362 | 124389362 | Missense_Mutation | C | T | p.S1763F |
| UPCISCC152_UPPER_AERODIGESTIVE_TRACT | 124389356 | 124389509 | 124389463 | 124389463 | Missense_Mutation | G | C | p.E1797Q |
| SCC90_UPPER_AERODIGESTIVE_TRACT | 124389356 | 124389509 | 124389463 | 124389463 | Missense_Mutation | G | C | p.E1797Q |
| NCIH2110_LUNG | 124389356 | 124389509 | 124389505 | 124389505 | Missense_Mutation | C | A | p.L1811M |
| BICR6_UPPER_AERODIGESTIVE_TRACT | 124390477 | 124390797 | 124390560 | 124390560 | Missense_Mutation | G | A | p.G1908R |
| PEO1_OVARY | 124390477 | 124390797 | 124390636 | 124390636 | Missense_Mutation | T | A | p.V1933D |
| SW684_SOFT_TISSUE | 124390477 | 124390797 | 124390692 | 124390692 | Missense_Mutation | G | A | p.D1952N |
| MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 124392377 | 124392406 | 124392392 | 124392392 | Missense_Mutation | T | C | p.I1999T |
| HCT15_LARGE_INTESTINE | 124396644 | 124396828 | 124396679 | 124396679 | Missense_Mutation | G | A | p.V2136M |
| KASUMI2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 124396644 | 124396828 | 124396692 | 124396692 | Missense_Mutation | A | G | p.Y2140C |
| NCIH513_PLEURA | 124396644 | 124396828 | 124396724 | 124396724 | Missense_Mutation | C | G | p.L2151V |
| HT115_LARGE_INTESTINE | 124396644 | 124396828 | 124396728 | 124396728 | Missense_Mutation | T | C | p.V2152A |
| CAL33_UPPER_AERODIGESTIVE_TRACT | 124396644 | 124396828 | 124396734 | 124396734 | Missense_Mutation | C | A | p.S2154Y |
| WM35_SKIN | 124396644 | 124396828 | 124396799 | 124396799 | Missense_Mutation | C | T | p.P2176S |
| NCIH2110_LUNG | 124345576 | 124345899 | 124345807 | 124345807 | Nonsense_Mutation | C | G | p.S564* |
| SKMEL3_SKIN | 124348460 | 124348783 | 124348534 | 124348534 | Nonsense_Mutation | C | T | p.R620* |
| MEWO_SKIN | 124351788 | 124352111 | 124351897 | 124351897 | Nonsense_Mutation | G | A | p.W762* |
| BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 124384793 | 124384819 | 124384819 | 124384819 | Splice_Site | G | A | p.D1750N |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DMBT1 |
| 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 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DMBT1 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DMBT1 |
Top |
RelatedDrugs for DMBT1 |
| 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 |
Top |
RelatedDiseases for DMBT1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| DMBT1 | C0009375 | Colonic Neoplasms | 1 | CTD_human |
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