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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 VPS13D |
 Gene summary |
| Gene information | Gene symbol | VPS13D | Gene ID | 55187 |
| Gene name | vacuolar protein sorting 13 homolog D | |
| Synonyms | - | |
| Cytomap | 1p36.22-p36.21 | |
| Type of gene | protein-coding | |
| Description | vacuolar protein sorting-associated protein 13Dvacuolar protein sorting 13D | |
| Modification date | 20180525 | |
| UniProtAcc | Q5THJ4 | |
| Context | PubMed: VPS13D [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 VPS13D 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 VPS13D |
| 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 VPS13D |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_1449 | 1 | 12290123:12290177:12294247:12294420:12302569:12302647 | 12294247:12294420 | ENSG00000048707.9 | ENST00000356315.4 |
| exon_skip_1450 | 1 | 12304593:12304674:12309279:12309396:12313778:12313883 | 12309279:12309396 | ENSG00000048707.9 | ENST00000356315.4,ENST00000358136.3 |
| exon_skip_1451 | 1 | 12309279:12309396:12313778:12313883:12316389:12316560 | 12313778:12313883 | ENSG00000048707.9 | ENST00000356315.4,ENST00000358136.3 |
| exon_skip_1453 | 1 | 12327901:12327977:12328762:12328933:12331050:12331181 | 12328762:12328933 | ENSG00000048707.9 | ENST00000356315.4,ENST00000358136.3 |
| exon_skip_1455 | 1 | 12342761:12343793:12348279:12348370:12351054:12351181 | 12348279:12348370 | ENSG00000048707.9 | ENST00000356315.4,ENST00000011700.6,ENST00000358136.3 |
| exon_skip_1456 | 1 | 12348279:12348370:12351054:12351181:12353580:12353761 | 12351054:12351181 | ENSG00000048707.9 | ENST00000356315.4,ENST00000011700.6,ENST00000358136.3 |
| exon_skip_1458 | 1 | 12353580:12353761:12359258:12359441:12364562:12364785 | 12359258:12359441 | ENSG00000048707.9 | ENST00000356315.4,ENST00000011700.6,ENST00000358136.3 |
| exon_skip_1459 | 1 | 12364562:12364785:12368487:12368698:12371510:12371682 | 12368487:12368698 | ENSG00000048707.9 | ENST00000356315.4,ENST00000460333.1,ENST00000011700.6,ENST00000358136.3 |
| exon_skip_1461 | 1 | 12371582:12371682:12371869:12371982:12374171:12374384 | 12371869:12371982 | ENSG00000048707.9 | ENST00000356315.4,ENST00000460333.1,ENST00000487188.1,ENST00000011700.6,ENST00000358136.3 |
| exon_skip_1462 | 1 | 12371869:12371982:12374171:12374384:12378128:12378394 | 12374171:12374384 | ENSG00000048707.9 | ENST00000356315.4,ENST00000460333.1,ENST00000487188.1,ENST00000011700.6,ENST00000358136.3 |
| exon_skip_1463 | 1 | 12378128:12378394:12379553:12379687:12381865:12382021 | 12379553:12379687 | ENSG00000048707.9 | ENST00000356315.4,ENST00000460333.1,ENST00000487188.1,ENST00000011700.6,ENST00000358136.3 |
| exon_skip_1464 | 1 | 12383762:12383837:12387704:12387911:12389885:12389975 | 12387704:12387911 | ENSG00000048707.9 | ENST00000356315.4,ENST00000460333.1,ENST00000487188.1,ENST00000011700.6,ENST00000358136.3 |
| exon_skip_1466 | 1 | 12395761:12395884:12398287:12398362:12401836:12401942 | 12398287:12398362 | ENSG00000048707.9 | ENST00000358136.3 |
| exon_skip_1467 | 1 | 12395761:12395884:12398287:12398362:12401839:12401942 | 12398287:12398362 | ENSG00000048707.9 | ENST00000011700.6 |
| exon_skip_1470 | 1 | 12409220:12409431:12414030:12414278:12415955:12416147 | 12414030:12414278 | ENSG00000048707.9 | ENST00000356315.4,ENST00000460333.1,ENST00000011700.6,ENST00000358136.3 |
| exon_skip_1472 | 1 | 12416454:12416581:12418514:12418657:12422775:12422906 | 12418514:12418657 | ENSG00000048707.9 | ENST00000356315.4,ENST00000460333.1,ENST00000011700.6,ENST00000358136.3 |
| exon_skip_1475 | 1 | 12445318:12445432:12446243:12446393:12460237:12460387 | 12446243:12446393 | ENSG00000048707.9 | ENST00000356315.4,ENST00000496628.1,ENST00000011700.6,ENST00000358136.3 |
| exon_skip_1477 | 1 | 12446243:12446393:12460237:12460387:12461660:12461757 | 12460237:12460387 | ENSG00000048707.9 | ENST00000356315.4,ENST00000496628.1,ENST00000011700.6,ENST00000358136.3 |
| exon_skip_1478 | 1 | 12461660:12461757:12462620:12462755:12463877:12464001 | 12462620:12462755 | ENSG00000048707.9 | ENST00000466732.2 |
| exon_skip_1480 | 1 | 12463877:12464026:12475139:12475274:12476712:12476880 | 12475139:12475274 | ENSG00000048707.9 | ENST00000356315.4,ENST00000496628.1,ENST00000011700.6,ENST00000358136.3 |
| exon_skip_1483 | 1 | 12469923:12469947:12475139:12475274:12476712:12476880 | 12475139:12475274 | ENSG00000048707.9 | ENST00000543766.1,ENST00000481484.1 |
| exon_skip_1484 | 1 | 12475139:12475274:12476712:12476880:12516053:12516127 | 12476712:12476880 | ENSG00000048707.9 | ENST00000356315.4,ENST00000496628.1,ENST00000543766.1,ENST00000011700.6,ENST00000358136.3 |
| exon_skip_1487 | 1 | 12476712:12476880:12516053:12516186:12520255:12520451 | 12516053:12516186 | ENSG00000048707.9 | ENST00000356315.4,ENST00000543766.1,ENST00000011700.6,ENST00000358136.3 |
| exon_skip_1490 | 1 | 12516053:12516186:12520255:12520451:12557553:12557685 | 12520255:12520451 | ENSG00000048707.9 | ENST00000356315.4,ENST00000543766.1,ENST00000011700.6,ENST00000358136.3 |
| exon_skip_1491 | 1 | 12520294:12520451:12557553:12557685:12566906:12566961 | 12557553:12557685 | ENSG00000048707.9 | ENST00000356315.4,ENST00000496628.1,ENST00000543766.1,ENST00000011700.6,ENST00000358136.3 |
| exon_skip_1493 | 1 | 12557553:12557685:12566906:12567147:12568946:12569753 | 12566906:12567147 | ENSG00000048707.9 | ENST00000356315.4,ENST00000543710.1,ENST00000471923.1,ENST00000496628.1,ENST00000543766.1,ENST00000011700.6,ENST00000358136.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for VPS13D |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_1449 | 1 | 12290123:12290177:12294247:12294420:12302569:12302647 | 12294247:12294420 | ENSG00000048707.9 | ENST00000356315.4 |
| exon_skip_1450 | 1 | 12304593:12304674:12309279:12309396:12313778:12313883 | 12309279:12309396 | ENSG00000048707.9 | ENST00000358136.3,ENST00000356315.4 |
| exon_skip_1451 | 1 | 12309279:12309396:12313778:12313883:12316389:12316560 | 12313778:12313883 | ENSG00000048707.9 | ENST00000358136.3,ENST00000356315.4 |
| exon_skip_1453 | 1 | 12327901:12327977:12328762:12328933:12331050:12331181 | 12328762:12328933 | ENSG00000048707.9 | ENST00000358136.3,ENST00000356315.4 |
| exon_skip_1455 | 1 | 12342761:12343793:12348279:12348370:12351054:12351181 | 12348279:12348370 | ENSG00000048707.9 | ENST00000358136.3,ENST00000356315.4,ENST00000011700.6 |
| exon_skip_1456 | 1 | 12348279:12348370:12351054:12351181:12353580:12353761 | 12351054:12351181 | ENSG00000048707.9 | ENST00000358136.3,ENST00000356315.4,ENST00000011700.6 |
| exon_skip_1458 | 1 | 12353580:12353761:12359258:12359441:12364562:12364785 | 12359258:12359441 | ENSG00000048707.9 | ENST00000358136.3,ENST00000356315.4,ENST00000011700.6 |
| exon_skip_1459 | 1 | 12364562:12364785:12368487:12368698:12371510:12371682 | 12368487:12368698 | ENSG00000048707.9 | ENST00000358136.3,ENST00000356315.4,ENST00000011700.6,ENST00000460333.1 |
| exon_skip_1461 | 1 | 12371582:12371682:12371869:12371982:12374171:12374384 | 12371869:12371982 | ENSG00000048707.9 | ENST00000358136.3,ENST00000356315.4,ENST00000011700.6,ENST00000460333.1,ENST00000487188.1 |
| exon_skip_1462 | 1 | 12371869:12371982:12374171:12374384:12378128:12378394 | 12374171:12374384 | ENSG00000048707.9 | ENST00000358136.3,ENST00000356315.4,ENST00000011700.6,ENST00000460333.1,ENST00000487188.1 |
| exon_skip_1463 | 1 | 12378128:12378394:12379553:12379687:12381865:12382021 | 12379553:12379687 | ENSG00000048707.9 | ENST00000358136.3,ENST00000356315.4,ENST00000011700.6,ENST00000460333.1,ENST00000487188.1 |
| exon_skip_1464 | 1 | 12383762:12383837:12387704:12387911:12389885:12389975 | 12387704:12387911 | ENSG00000048707.9 | ENST00000358136.3,ENST00000356315.4,ENST00000011700.6,ENST00000460333.1,ENST00000487188.1 |
| exon_skip_1466 | 1 | 12395761:12395884:12398287:12398362:12401836:12401942 | 12398287:12398362 | ENSG00000048707.9 | ENST00000358136.3 |
| exon_skip_1467 | 1 | 12395761:12395884:12398287:12398362:12401839:12401942 | 12398287:12398362 | ENSG00000048707.9 | ENST00000011700.6 |
| exon_skip_1470 | 1 | 12409220:12409431:12414030:12414278:12415955:12416147 | 12414030:12414278 | ENSG00000048707.9 | ENST00000358136.3,ENST00000356315.4,ENST00000011700.6,ENST00000460333.1 |
| exon_skip_1472 | 1 | 12416454:12416581:12418514:12418657:12422775:12422906 | 12418514:12418657 | ENSG00000048707.9 | ENST00000358136.3,ENST00000356315.4,ENST00000011700.6,ENST00000460333.1 |
| exon_skip_1475 | 1 | 12445318:12445432:12446243:12446393:12460237:12460387 | 12446243:12446393 | ENSG00000048707.9 | ENST00000358136.3,ENST00000356315.4,ENST00000011700.6,ENST00000496628.1 |
| exon_skip_1477 | 1 | 12446243:12446393:12460237:12460387:12461660:12461757 | 12460237:12460387 | ENSG00000048707.9 | ENST00000358136.3,ENST00000356315.4,ENST00000011700.6,ENST00000496628.1 |
| exon_skip_1478 | 1 | 12461660:12461757:12462620:12462755:12463877:12464001 | 12462620:12462755 | ENSG00000048707.9 | ENST00000466732.2 |
| exon_skip_1480 | 1 | 12463877:12464026:12475139:12475274:12476712:12476880 | 12475139:12475274 | ENSG00000048707.9 | ENST00000358136.3,ENST00000356315.4,ENST00000011700.6,ENST00000496628.1 |
| exon_skip_1483 | 1 | 12469923:12469947:12475139:12475274:12476712:12476880 | 12475139:12475274 | ENSG00000048707.9 | ENST00000481484.1,ENST00000543766.1 |
| exon_skip_1484 | 1 | 12475139:12475274:12476712:12476880:12516053:12516127 | 12476712:12476880 | ENSG00000048707.9 | ENST00000358136.3,ENST00000356315.4,ENST00000011700.6,ENST00000496628.1,ENST00000543766.1 |
| exon_skip_1487 | 1 | 12476712:12476880:12516053:12516186:12520255:12520451 | 12516053:12516186 | ENSG00000048707.9 | ENST00000358136.3,ENST00000356315.4,ENST00000011700.6,ENST00000543766.1 |
| exon_skip_1490 | 1 | 12516053:12516186:12520255:12520451:12557553:12557685 | 12520255:12520451 | ENSG00000048707.9 | ENST00000358136.3,ENST00000356315.4,ENST00000011700.6,ENST00000543766.1 |
| exon_skip_1491 | 1 | 12520294:12520451:12557553:12557685:12566906:12566961 | 12557553:12557685 | ENSG00000048707.9 | ENST00000358136.3,ENST00000356315.4,ENST00000011700.6,ENST00000496628.1,ENST00000543766.1 |
| exon_skip_1493 | 1 | 12557553:12557685:12566906:12567147:12568946:12569753 | 12566906:12567147 | ENSG00000048707.9 | ENST00000358136.3,ENST00000356315.4,ENST00000011700.6,ENST00000496628.1,ENST00000543766.1,ENST00000471923.1,ENST00000543710.1 |
| 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 VPS13D |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for VPS13D |
| 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 |
| 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 |
| 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 |
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SNVs in the skipped exons for VPS13D |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
VPS13D_BRCA_exon_skip_1475_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_1449 | 12294248 | 12294420 | 12294368 | 12294368 | Frame_Shift_Del | A | - | p.G15fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_1450 | 12309280 | 12309396 | 12309339 | 12309339 | Frame_Shift_Del | T | - | p.P169fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_1450 | 12309280 | 12309396 | 12309339 | 12309339 | Frame_Shift_Del | T | - | p.P169fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_1451 | 12313779 | 12313883 | 12313821 | 12313821 | Frame_Shift_Del | T | - | p.F203fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_1453 | 12328763 | 12328933 | 12328784 | 12328784 | Frame_Shift_Del | T | - | p.V608fs |
| COAD | TCGA-F4-6570-01 | exon_skip_1458 | 12359259 | 12359441 | 12359388 | 12359388 | Frame_Shift_Del | A | - | p.V2054fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_1464 | 12387705 | 12387911 | 12387713 | 12387713 | Frame_Shift_Del | A | - | p.K2668fs |
| LIHC | TCGA-BC-A3KG-01 | exon_skip_1466 exon_skip_1467 | 12398288 | 12398362 | 12398335 | 12398335 | Frame_Shift_Del | A | - | p.N2867fs |
| HNSC | TCGA-HD-7753-01 | exon_skip_1470 | 12414031 | 12414278 | 12414089 | 12414090 | Frame_Shift_Del | TC | - | p.S3164fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_1470 | 12414031 | 12414278 | 12414184 | 12414184 | Frame_Shift_Del | T | - | p.D3195fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_1470 | 12414031 | 12414278 | 12414184 | 12414184 | Frame_Shift_Del | T | - | p.D3195fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_1470 | 12414031 | 12414278 | 12414184 | 12414184 | Frame_Shift_Del | T | - | p.D3195fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_1480 exon_skip_1483 | 12475140 | 12475274 | 12475145 | 12475145 | Frame_Shift_Del | A | - | p.L4012fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_1484 | 12476713 | 12476880 | 12476727 | 12476727 | Frame_Shift_Del | G | - | p.Q4060fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_1484 | 12476713 | 12476880 | 12476789 | 12476789 | Frame_Shift_Del | T | - | p.V4081fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_1464 | 12387705 | 12387911 | 12387726 | 12387727 | Frame_Shift_Ins | - | T | p.M2671fs |
| ESCA | TCGA-IC-A6RF-01 | exon_skip_1451 | 12313779 | 12313883 | 12313875 | 12313875 | Nonsense_Mutation | G | T | p.E221* |
| CESC | TCGA-EK-A3GK-01 | exon_skip_1470 | 12414031 | 12414278 | 12414078 | 12414078 | Nonsense_Mutation | C | A | p.S3160* |
| UCEC | TCGA-B5-A11N-01 | exon_skip_1475 | 12446244 | 12446393 | 12446285 | 12446285 | Nonsense_Mutation | T | G | p.L2664* |
| BRCA | TCGA-AR-A251-01 | exon_skip_1475 | 12446244 | 12446393 | 12446242 | 12446242 | Splice_Site | A | G | e59-2 |
| OV | TCGA-24-2267-01 | exon_skip_1491 | 12557554 | 12557685 | 12557552 | 12557552 | Splice_Site | A | G | p.R4221_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-AR-A251-01 |
| Cancer type: BRCA | |
| ESID: exon_skip_1475 | |
| Skipped exon start: 12446244 | |
| Skipped exon end: 12446393 | |
| Mutation start: 12446242 | |
| Mutation end: 12446242 | |
| Mutation type: Splice_Site | |
| Reference seq: A | |
| Mutation seq: G | |
| AAchange: e59-2 | |
exon_skip_1475_BRCA_TCGA-AR-A251-01.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 |
| SNUC5_LARGE_INTESTINE | 12475140 | 12475274 | 12475145 | 12475145 | Frame_Shift_Del | A | - | p.L4012fs |
| HCT15_LARGE_INTESTINE | 12294248 | 12294420 | 12294384 | 12294384 | Missense_Mutation | C | A | p.L21M |
| CAL27_UPPER_AERODIGESTIVE_TRACT | 12313779 | 12313883 | 12313829 | 12313829 | Missense_Mutation | C | G | p.I205M |
| NCIH358_LUNG | 12313779 | 12313883 | 12313857 | 12313857 | Missense_Mutation | G | C | p.G215R |
| GP2D_LARGE_INTESTINE | 12313779 | 12313883 | 12313860 | 12313860 | Missense_Mutation | G | A | p.D216N |
| RKO_LARGE_INTESTINE | 12328763 | 12328933 | 12328813 | 12328813 | Missense_Mutation | G | A | p.A618T |
| RS411_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 12328763 | 12328933 | 12328835 | 12328835 | Missense_Mutation | G | A | p.R625Q |
| AM38_CENTRAL_NERVOUS_SYSTEM | 12348280 | 12348370 | 12348295 | 12348295 | Missense_Mutation | C | G | p.L1884V |
| CW2_LARGE_INTESTINE | 12348280 | 12348370 | 12348317 | 12348317 | Missense_Mutation | G | A | p.S1891N |
| HCT15_LARGE_INTESTINE | 12348280 | 12348370 | 12348337 | 12348337 | Missense_Mutation | G | A | p.V1898M |
| BC3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 12351055 | 12351181 | 12351153 | 12351153 | Missense_Mutation | G | A | p.E1942K |
| HEC6_ENDOMETRIUM | 12359259 | 12359441 | 12359313 | 12359313 | Missense_Mutation | G | A | p.A2030T |
| SW684_SOFT_TISSUE | 12359259 | 12359441 | 12359331 | 12359331 | Missense_Mutation | C | T | p.P2036S |
| ECC10_STOMACH | 12359259 | 12359441 | 12359359 | 12359359 | Missense_Mutation | T | C | p.I2045T |
| AGS_STOMACH | 12359259 | 12359441 | 12359425 | 12359425 | Missense_Mutation | T | G | p.F2067C |
| EMCBAC1_LUNG | 12368488 | 12368698 | 12368514 | 12368514 | Missense_Mutation | G | A | p.V2156I |
| HEC1_ENDOMETRIUM | 12368488 | 12368698 | 12368520 | 12368520 | Missense_Mutation | G | A | p.V2158M |
| NCIH1563_LUNG | 12368488 | 12368698 | 12368609 | 12368609 | Missense_Mutation | C | G | p.I2187M |
| HCT15_LARGE_INTESTINE | 12368488 | 12368698 | 12368650 | 12368650 | Missense_Mutation | T | C | p.L2201S |
| AN3CA_ENDOMETRIUM | 12368488 | 12368698 | 12368661 | 12368661 | Missense_Mutation | T | C | p.C2205R |
| OMC1_CERVIX | 12368488 | 12368698 | 12368687 | 12368687 | Missense_Mutation | G | C | p.R2213S |
| JHUEM7_ENDOMETRIUM | 12368488 | 12368698 | 12368689 | 12368689 | Missense_Mutation | A | C | p.N2214T |
| T3M10_LUNG | 12374172 | 12374384 | 12374230 | 12374230 | Missense_Mutation | A | G | p.I2332V |
| T3M4_PANCREAS | 12374172 | 12374384 | 12374230 | 12374230 | Missense_Mutation | A | G | p.I2332V |
| SNU16_STOMACH | 12374172 | 12374384 | 12374230 | 12374230 | Missense_Mutation | A | G | p.I2332V |
| RERFLCFM_LUNG | 12374172 | 12374384 | 12374230 | 12374230 | Missense_Mutation | A | G | p.I2332V |
| TGW_AUTONOMIC_GANGLIA | 12374172 | 12374384 | 12374230 | 12374230 | Missense_Mutation | A | G | p.I2332V |
| GA10_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 12374172 | 12374384 | 12374243 | 12374243 | Missense_Mutation | C | G | p.S2336C |
| JEKO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 12374172 | 12374384 | 12374303 | 12374303 | Missense_Mutation | C | T | p.T2356M |
| DJM1_SKIN | 12379554 | 12379687 | 12379584 | 12379584 | Missense_Mutation | C | G | p.S2482C |
| BB49EBV_MATCHED_NORMAL_TISSUE | 12387705 | 12387911 | 12387765 | 12387765 | Missense_Mutation | C | T | p.S2684F |
| BB49HNC_UPPER_AERODIGESTIVE_TRACT | 12387705 | 12387911 | 12387765 | 12387765 | Missense_Mutation | C | T | p.S2684F |
| CL14_LARGE_INTESTINE | 12398288 | 12398362 | 12398339 | 12398339 | Missense_Mutation | T | G | p.L2868R |
| RKO_LARGE_INTESTINE | 12414031 | 12414278 | 12414075 | 12414075 | Missense_Mutation | C | A | p.P3159H |
| HCT15_LARGE_INTESTINE | 12414031 | 12414278 | 12414118 | 12414118 | Missense_Mutation | G | C | p.Q3173H |
| SNU1040_LARGE_INTESTINE | 12414031 | 12414278 | 12414165 | 12414165 | Missense_Mutation | T | C | p.L3189S |
| FEPD_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 12446244 | 12446393 | 12446286 | 12446286 | Missense_Mutation | A | T | p.N3843Y |
| RL952_ENDOMETRIUM | 12446244 | 12446393 | 12446359 | 12446359 | Missense_Mutation | G | A | p.S3867N |
| TT_OESOPHAGUS | 12460238 | 12460387 | 12460298 | 12460298 | Missense_Mutation | A | C | p.N3899H |
| ABC1_LUNG | 12460238 | 12460387 | 12460298 | 12460298 | Missense_Mutation | A | C | p.N3899H |
| SNU1040_LARGE_INTESTINE | 12475140 | 12475274 | 12475158 | 12475158 | Missense_Mutation | G | T | p.G4017W |
| IGR37_SKIN | 12475140 | 12475274 | 12475174 | 12475174 | Missense_Mutation | G | A | p.R4022Q |
| IGR39_SKIN | 12475140 | 12475274 | 12475174 | 12475174 | Missense_Mutation | G | A | p.R4022Q |
| NCIH1048_LUNG | 12475140 | 12475274 | 12475185 | 12475185 | Missense_Mutation | G | T | p.A4026S |
| OCIM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 12475140 | 12475274 | 12475225 | 12475225 | Missense_Mutation | A | G | p.Y4039C |
| SNU349_KIDNEY | 12476713 | 12476880 | 12476754 | 12476754 | Missense_Mutation | T | A | p.D4069E |
| TE1_OESOPHAGUS | 12476713 | 12476880 | 12476765 | 12476765 | Missense_Mutation | A | G | p.N4073S |
| JHUEM7_ENDOMETRIUM | 12476713 | 12476880 | 12476791 | 12476791 | Missense_Mutation | T | C | p.S4082P |
| SNU1040_LARGE_INTESTINE | 12476713 | 12476880 | 12476876 | 12476876 | Missense_Mutation | C | T | p.A4110V |
| SIHA_CERVIX | 12516054 | 12516186 | 12516088 | 12516088 | Missense_Mutation | C | T | p.T4123M |
| KG1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 12516054 | 12516186 | 12516153 | 12516153 | Missense_Mutation | C | T | p.H4145Y |
| HCT116_LARGE_INTESTINE | 12516054 | 12516186 | 12516159 | 12516159 | Missense_Mutation | G | T | p.V4147L |
| NCIH2342_LUNG | 12520256 | 12520451 | 12520308 | 12520308 | Missense_Mutation | A | T | p.K4173N |
| SNU175_LARGE_INTESTINE | 12557554 | 12557685 | 12557582 | 12557582 | Missense_Mutation | C | T | p.R4231C |
| NCIH1435_LUNG | 12557554 | 12557685 | 12557602 | 12557602 | Missense_Mutation | G | T | p.Q4237H |
| MERO83_LUNG | 12557554 | 12557685 | 12557645 | 12557645 | Missense_Mutation | G | A | p.E4252K |
| FEPD_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 12566907 | 12567147 | 12566911 | 12566911 | Missense_Mutation | A | G | p.I4267V |
| CW2_LARGE_INTESTINE | 12566907 | 12567147 | 12567071 | 12567071 | Missense_Mutation | A | G | p.Y4320C |
| SNU407_LARGE_INTESTINE | 12566907 | 12567147 | 12567094 | 12567094 | Missense_Mutation | G | A | p.V4328M |
| GP2D_LARGE_INTESTINE | 12566907 | 12567147 | 12567118 | 12567118 | Missense_Mutation | A | G | p.I4336V |
| GP5D_LARGE_INTESTINE | 12566907 | 12567147 | 12567118 | 12567118 | Missense_Mutation | A | G | p.I4336V |
| MEWO_SKIN | 12566907 | 12567147 | 12567120 | 12567121 | Missense_Mutation | CC | TT | p.P4337S |
| MEWO_SKIN | 12566907 | 12567147 | 12567121 | 12567121 | Missense_Mutation | C | T | p.P4337S |
| NIHOVCAR3_OVARY | 12359259 | 12359441 | 12359347 | 12359347 | Nonsense_Mutation | C | A | p.S2041* |
| P30OHK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 12398288 | 12398362 | 12398341 | 12398341 | Nonsense_Mutation | G | T | p.E2869* |
| CL34_LARGE_INTESTINE | 12418515 | 12418657 | 12418603 | 12418603 | Nonsense_Mutation | C | T | p.R3363* |
| KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 12476713 | 12476880 | 12476734 | 12476734 | Nonsense_Mutation | C | T | p.R4063* |
| LNCAPCLONEFGC_PROSTATE | 12476713 | 12476880 | 12476880 | 12476880 | Splice_Site | G | T | p.K4111N |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for VPS13D |
| 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 VPS13D |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for VPS13D |
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RelatedDrugs for VPS13D |
| 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 |
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RelatedDiseases for VPS13D |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| VPS13D | C0043094 | Weight Gain | 1 | CTD_human |
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