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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 VPS13C |
 Gene summary |
| Gene information | Gene symbol | VPS13C | Gene ID | 54832 |
| Gene name | vacuolar protein sorting 13 homolog C | |
| Synonyms | PARK23 | |
| Cytomap | 15q22.2 | |
| Type of gene | protein-coding | |
| Description | vacuolar protein sorting-associated protein 13C | |
| Modification date | 20180523 | |
| UniProtAcc | Q709C8 | |
| Context | PubMed: VPS13C [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 VPS13C 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 VPS13C |
| 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 VPS13C |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_128053 | 15 | 62147069:62147153:62148484:62148608:62155638:62155727 | 62148484:62148608 | ENSG00000129003.11 | ENST00000261517.5,ENST00000560637.1,ENST00000249837.3 |
| exon_skip_128058 | 15 | 62148484:62148608:62155638:62155727:62160857:62160972 | 62155638:62155727 | ENSG00000129003.11 | ENST00000261517.5,ENST00000249837.3 |
| exon_skip_128063 | 15 | 62167074:62167150:62167930:62168044:62169171:62169253 | 62167930:62168044 | ENSG00000129003.11 | ENST00000261517.5,ENST00000395898.3,ENST00000395896.4,ENST00000249837.3 |
| exon_skip_128064 | 15 | 62174794:62174935:62176326:62176468:62182363:62182599 | 62176326:62176468 | ENSG00000129003.11 | ENST00000261517.5,ENST00000395898.3,ENST00000395896.4,ENST00000249837.3 |
| exon_skip_128067 | 15 | 62182363:62182599:62199462:62199589:62201190:62201324 | 62199462:62199589 | ENSG00000129003.11 | ENST00000261517.5,ENST00000395898.3,ENST00000395896.4,ENST00000249837.3 |
| exon_skip_128069 | 15 | 62212265:62212530:62212696:62212846:62214145:62214232 | 62212696:62212846 | ENSG00000129003.11 | ENST00000261517.5,ENST00000395898.3,ENST00000395896.4,ENST00000249837.3 |
| exon_skip_128070 | 15 | 62214595:62214961:62217654:62217747:62219289:62219519 | 62217654:62217747 | ENSG00000129003.11 | ENST00000261517.5,ENST00000395898.3,ENST00000395896.4,ENST00000249837.3 |
| exon_skip_128071 | 15 | 62219289:62219519:62221699:62221947:62223288:62223458 | 62221699:62221947 | ENSG00000129003.11 | ENST00000261517.5,ENST00000395898.3,ENST00000395896.4,ENST00000249837.3 |
| exon_skip_128076 | 15 | 62223288:62223458:62226417:62226530:62228795:62228949 | 62226417:62226530 | ENSG00000129003.11 | ENST00000261517.5,ENST00000395898.3,ENST00000395896.4,ENST00000249837.3 |
| exon_skip_128078 | 15 | 62237913:62238081:62238505:62238609:62239391:62239508 | 62238505:62238609 | ENSG00000129003.11 | ENST00000261517.5,ENST00000395898.3,ENST00000395896.4,ENST00000249837.3 |
| exon_skip_128080 | 15 | 62241641:62241804:62242556:62242616:62243143:62243223 | 62242556:62242616 | ENSG00000129003.11 | ENST00000261517.5,ENST00000395898.3,ENST00000395896.4,ENST00000249837.3 |
| exon_skip_128081 | 15 | 62244058:62244179:62246619:62246753:62250806:62250915 | 62246619:62246753 | ENSG00000129003.11 | ENST00000261517.5,ENST00000395898.3,ENST00000395896.4,ENST00000249837.3 |
| exon_skip_128082 | 15 | 62244058:62244179:62246665:62246753:62250806:62250915 | 62246665:62246753 | ENSG00000129003.11 | ENST00000558088.1 |
| exon_skip_128085 | 15 | 62315609:62315719:62315978:62316044:62320556:62320619 | 62315978:62316044 | ENSG00000129003.11 | ENST00000261517.5,ENST00000395896.4 |
| exon_skip_128088 | 15 | 62315978:62316044:62320556:62320619:62325639:62325741 | 62320556:62320619 | ENSG00000129003.11 | ENST00000261517.5,ENST00000395896.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for VPS13C |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_128053 | 15 | 62147069:62147153:62148484:62148608:62155638:62155727 | 62148484:62148608 | ENSG00000129003.11 | ENST00000249837.3,ENST00000261517.5,ENST00000560637.1 |
| exon_skip_128058 | 15 | 62148484:62148608:62155638:62155727:62160857:62160972 | 62155638:62155727 | ENSG00000129003.11 | ENST00000249837.3,ENST00000261517.5 |
| exon_skip_128063 | 15 | 62167074:62167150:62167930:62168044:62169171:62169253 | 62167930:62168044 | ENSG00000129003.11 | ENST00000249837.3,ENST00000261517.5,ENST00000395896.4,ENST00000395898.3 |
| exon_skip_128064 | 15 | 62174794:62174935:62176326:62176468:62182363:62182599 | 62176326:62176468 | ENSG00000129003.11 | ENST00000249837.3,ENST00000261517.5,ENST00000395896.4,ENST00000395898.3 |
| exon_skip_128067 | 15 | 62182363:62182599:62199462:62199589:62201190:62201324 | 62199462:62199589 | ENSG00000129003.11 | ENST00000249837.3,ENST00000261517.5,ENST00000395896.4,ENST00000395898.3 |
| exon_skip_128069 | 15 | 62212265:62212530:62212696:62212846:62214145:62214232 | 62212696:62212846 | ENSG00000129003.11 | ENST00000249837.3,ENST00000261517.5,ENST00000395896.4,ENST00000395898.3 |
| exon_skip_128070 | 15 | 62214595:62214961:62217654:62217747:62219289:62219519 | 62217654:62217747 | ENSG00000129003.11 | ENST00000249837.3,ENST00000261517.5,ENST00000395896.4,ENST00000395898.3 |
| exon_skip_128071 | 15 | 62219289:62219519:62221699:62221947:62223288:62223458 | 62221699:62221947 | ENSG00000129003.11 | ENST00000249837.3,ENST00000261517.5,ENST00000395896.4,ENST00000395898.3 |
| exon_skip_128076 | 15 | 62223288:62223458:62226417:62226530:62228795:62228949 | 62226417:62226530 | ENSG00000129003.11 | ENST00000249837.3,ENST00000261517.5,ENST00000395896.4,ENST00000395898.3 |
| exon_skip_128078 | 15 | 62237913:62238081:62238505:62238609:62239391:62239508 | 62238505:62238609 | ENSG00000129003.11 | ENST00000249837.3,ENST00000261517.5,ENST00000395896.4,ENST00000395898.3 |
| exon_skip_128080 | 15 | 62241641:62241804:62242556:62242616:62243143:62243223 | 62242556:62242616 | ENSG00000129003.11 | ENST00000249837.3,ENST00000261517.5,ENST00000395896.4,ENST00000395898.3 |
| exon_skip_128081 | 15 | 62244058:62244179:62246619:62246753:62250806:62250915 | 62246619:62246753 | ENSG00000129003.11 | ENST00000249837.3,ENST00000261517.5,ENST00000395896.4,ENST00000395898.3 |
| exon_skip_128082 | 15 | 62244058:62244179:62246665:62246753:62250806:62250915 | 62246665:62246753 | ENSG00000129003.11 | ENST00000558088.1 |
| exon_skip_128085 | 15 | 62315609:62315719:62315978:62316044:62320556:62320619 | 62315978:62316044 | ENSG00000129003.11 | ENST00000261517.5,ENST00000395896.4 |
| exon_skip_128088 | 15 | 62315978:62316044:62320556:62320619:62325639:62325741 | 62320556:62320619 | ENSG00000129003.11 | ENST00000261517.5,ENST00000395896.4 |
| 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 VPS13C |
| 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 |
| ENST00000261517 | 62148484 | 62148608 | Frame-shift |
| ENST00000261517 | 62155638 | 62155727 | Frame-shift |
| ENST00000261517 | 62176326 | 62176468 | Frame-shift |
| ENST00000261517 | 62199462 | 62199589 | Frame-shift |
| ENST00000261517 | 62221699 | 62221947 | Frame-shift |
| ENST00000261517 | 62226417 | 62226530 | Frame-shift |
| ENST00000261517 | 62238505 | 62238609 | Frame-shift |
| ENST00000261517 | 62246619 | 62246753 | Frame-shift |
| ENST00000261517 | 62167930 | 62168044 | In-frame |
| ENST00000261517 | 62212696 | 62212846 | In-frame |
| ENST00000261517 | 62217654 | 62217747 | In-frame |
| ENST00000261517 | 62242556 | 62242616 | In-frame |
| ENST00000261517 | 62315978 | 62316044 | In-frame |
| ENST00000261517 | 62320556 | 62320619 | 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 |
| ENST00000261517 | 62148484 | 62148608 | Frame-shift |
| ENST00000261517 | 62155638 | 62155727 | Frame-shift |
| ENST00000261517 | 62176326 | 62176468 | Frame-shift |
| ENST00000261517 | 62199462 | 62199589 | Frame-shift |
| ENST00000261517 | 62221699 | 62221947 | Frame-shift |
| ENST00000261517 | 62226417 | 62226530 | Frame-shift |
| ENST00000261517 | 62238505 | 62238609 | Frame-shift |
| ENST00000261517 | 62246619 | 62246753 | Frame-shift |
| ENST00000261517 | 62167930 | 62168044 | In-frame |
| ENST00000261517 | 62212696 | 62212846 | In-frame |
| ENST00000261517 | 62217654 | 62217747 | In-frame |
| ENST00000261517 | 62242556 | 62242616 | In-frame |
| ENST00000261517 | 62315978 | 62316044 | In-frame |
| ENST00000261517 | 62320556 | 62320619 | In-frame |
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Infer the effects of exon skipping event on protein functional features for VPS13C |
| 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 |
| ENST00000261517 | 13417 | 3753 | 62320556 | 62320619 | 460 | 522 | 128 | 149 |
| ENST00000261517 | 13417 | 3753 | 62315978 | 62316044 | 523 | 588 | 149 | 171 |
| ENST00000261517 | 13417 | 3753 | 62242556 | 62242616 | 4611 | 4670 | 1512 | 1532 |
| ENST00000261517 | 13417 | 3753 | 62217654 | 62217747 | 6591 | 6683 | 2172 | 2203 |
| ENST00000261517 | 13417 | 3753 | 62212696 | 62212846 | 7137 | 7286 | 2354 | 2404 |
| ENST00000261517 | 13417 | 3753 | 62167930 | 62168044 | 10299 | 10412 | 3408 | 3446 |
| 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 |
| ENST00000261517 | 13417 | 3753 | 62320556 | 62320619 | 460 | 522 | 128 | 149 |
| ENST00000261517 | 13417 | 3753 | 62315978 | 62316044 | 523 | 588 | 149 | 171 |
| ENST00000261517 | 13417 | 3753 | 62242556 | 62242616 | 4611 | 4670 | 1512 | 1532 |
| ENST00000261517 | 13417 | 3753 | 62217654 | 62217747 | 6591 | 6683 | 2172 | 2203 |
| ENST00000261517 | 13417 | 3753 | 62212696 | 62212846 | 7137 | 7286 | 2354 | 2404 |
| ENST00000261517 | 13417 | 3753 | 62167930 | 62168044 | 10299 | 10412 | 3408 | 3446 |
| 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 |
| Q709C8 | 128 | 149 | 129 | 171 | Alternative sequence | ID=VSP_052243;Note=In isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15498460;Dbxref=PMID:15498460 |
| Q709C8 | 128 | 149 | 1 | 3753 | Chain | ID=PRO_0000262949;Note=Vacuolar protein sorting-associated protein 13C |
| Q709C8 | 128 | 149 | 145 | 179 | Compositional bias | Note=Lys-rich;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q709C8 | 128 | 149 | 132 | 132 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8BX70 |
| Q709C8 | 149 | 171 | 129 | 171 | Alternative sequence | ID=VSP_052243;Note=In isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15498460;Dbxref=PMID:15498460 |
| Q709C8 | 149 | 171 | 1 | 3753 | Chain | ID=PRO_0000262949;Note=Vacuolar protein sorting-associated protein 13C |
| Q709C8 | 149 | 171 | 145 | 179 | Compositional bias | Note=Lys-rich;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q709C8 | 149 | 171 | 153 | 153 | Natural variant | ID=VAR_029548;Note=R->H;Dbxref=dbSNP:rs12595158 |
| Q709C8 | 1512 | 1532 | 1 | 3753 | Chain | ID=PRO_0000262949;Note=Vacuolar protein sorting-associated protein 13C |
| Q709C8 | 2172 | 2203 | 1 | 3753 | Chain | ID=PRO_0000262949;Note=Vacuolar protein sorting-associated protein 13C |
| Q709C8 | 2354 | 2404 | 1 | 3753 | Chain | ID=PRO_0000262949;Note=Vacuolar protein sorting-associated protein 13C |
| Q709C8 | 3408 | 3446 | 1 | 3753 | Chain | ID=PRO_0000262949;Note=Vacuolar protein sorting-associated protein 13C |
| 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 |
| Q709C8 | 128 | 149 | 129 | 171 | Alternative sequence | ID=VSP_052243;Note=In isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15498460;Dbxref=PMID:15498460 |
| Q709C8 | 128 | 149 | 1 | 3753 | Chain | ID=PRO_0000262949;Note=Vacuolar protein sorting-associated protein 13C |
| Q709C8 | 128 | 149 | 145 | 179 | Compositional bias | Note=Lys-rich;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q709C8 | 128 | 149 | 132 | 132 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8BX70 |
| Q709C8 | 149 | 171 | 129 | 171 | Alternative sequence | ID=VSP_052243;Note=In isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15498460;Dbxref=PMID:15498460 |
| Q709C8 | 149 | 171 | 1 | 3753 | Chain | ID=PRO_0000262949;Note=Vacuolar protein sorting-associated protein 13C |
| Q709C8 | 149 | 171 | 145 | 179 | Compositional bias | Note=Lys-rich;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q709C8 | 149 | 171 | 153 | 153 | Natural variant | ID=VAR_029548;Note=R->H;Dbxref=dbSNP:rs12595158 |
| Q709C8 | 1512 | 1532 | 1 | 3753 | Chain | ID=PRO_0000262949;Note=Vacuolar protein sorting-associated protein 13C |
| Q709C8 | 2172 | 2203 | 1 | 3753 | Chain | ID=PRO_0000262949;Note=Vacuolar protein sorting-associated protein 13C |
| Q709C8 | 2354 | 2404 | 1 | 3753 | Chain | ID=PRO_0000262949;Note=Vacuolar protein sorting-associated protein 13C |
| Q709C8 | 3408 | 3446 | 1 | 3753 | Chain | ID=PRO_0000262949;Note=Vacuolar protein sorting-associated protein 13C |
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SNVs in the skipped exons for VPS13C |
| - 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. |
| - 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_128053 | 62148485 | 62148608 | 62148533 | 62148533 | Frame_Shift_Del | A | - | p.F3676fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_128058 | 62155639 | 62155727 | 62155714 | 62155714 | Frame_Shift_Del | T | - | p.K3626fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_128064 | 62176327 | 62176468 | 62176412 | 62176412 | Frame_Shift_Del | T | - | p.K3133fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_128069 | 62212697 | 62212846 | 62212793 | 62212793 | Frame_Shift_Del | A | - | p.I2372fs |
| LIHC | TCGA-G3-A3CJ-01 | 62221700 | 62221947 | 62221741 | 62221741 | Frame_Shift_Del | A | - | p.L2082fs | |
| LIHC | TCGA-DD-A3A0-01 | 62221700 | 62221947 | 62221755 | 62221755 | Frame_Shift_Del | T | - | p.K2077fs | |
| KIRP | TCGA-5P-A9JW-01 | 62221700 | 62221947 | 62221902 | 62221902 | Frame_Shift_Del | A | - | p.D2029fs | |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_128081 exon_skip_128082 | 62246620 | 62246753 | 62246696 | 62246696 | Frame_Shift_Del | T | - | p.N1408fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_128081 exon_skip_128082 | 62246666 | 62246753 | 62246696 | 62246696 | Frame_Shift_Del | T | - | p.N1408fs |
| ESCA | TCGA-L5-A8NM-01 | exon_skip_128085 | 62315979 | 62316044 | 62316019 | 62316019 | Frame_Shift_Del | T | - | p.K158fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_128070 | 62217655 | 62217747 | 62217669 | 62217670 | Frame_Shift_Ins | - | T | p.I2199fs |
| LGG | TCGA-DU-6392-01 | exon_skip_128085 | 62315979 | 62316044 | 62316028 | 62316029 | Frame_Shift_Ins | - | T | p.T155fs |
| STAD | TCGA-BR-4292-01 | exon_skip_128053 | 62148485 | 62148608 | 62148607 | 62148607 | Nonsense_Mutation | G | A | p.R3652* |
| KIRP | TCGA-A4-A5Y1-01 | exon_skip_128058 | 62155639 | 62155727 | 62155703 | 62155703 | Nonsense_Mutation | C | A | p.E3587X |
| KIRP | TCGA-A4-A5Y1-01 | exon_skip_128058 | 62155639 | 62155727 | 62155703 | 62155703 | Nonsense_Mutation | C | A | p.E3630* |
| KIRP | TCGA-A4-A5Y1-01 | exon_skip_128058 | 62155639 | 62155727 | 62155703 | 62155703 | Nonsense_Mutation | C | A | p.E3630X |
| PRAD | TCGA-EJ-7331-01 | exon_skip_128069 | 62212697 | 62212846 | 62212807 | 62212807 | Nonsense_Mutation | C | A | p.G2368* |
| BLCA | TCGA-DK-A6AW-01 | exon_skip_128070 | 62217655 | 62217747 | 62217669 | 62217669 | Nonsense_Mutation | C | A | p.E2199* |
| COAD | TCGA-AA-3510-01 | exon_skip_128070 | 62217655 | 62217747 | 62217669 | 62217669 | Nonsense_Mutation | C | A | p.E2156X |
| READ | TCGA-EI-6917-01 | exon_skip_128070 | 62217655 | 62217747 | 62217669 | 62217669 | Nonsense_Mutation | C | A | p.E2156X |
| UCEC | TCGA-AX-A0J0-01 | exon_skip_128070 | 62217655 | 62217747 | 62217669 | 62217669 | Nonsense_Mutation | C | A | p.E2199* |
| UCEC | TCGA-AX-A05Z-01 | 62221700 | 62221947 | 62221754 | 62221754 | Nonsense_Mutation | C | A | p.E2078* | |
| UCEC | TCGA-D1-A17Q-01 | 62221700 | 62221947 | 62221754 | 62221754 | Nonsense_Mutation | C | A | p.E2078* | |
| UCEC | TCGA-D1-A103-01 | exon_skip_128076 | 62226418 | 62226530 | 62226459 | 62226459 | Nonsense_Mutation | C | A | p.E1943* |
| UCEC | TCGA-BS-A0UF-01 | exon_skip_128080 | 62242557 | 62242616 | 62242598 | 62242598 | Nonsense_Mutation | C | A | p.E1519* |
| LUAD | TCGA-05-4382-01 | exon_skip_128088 | 62320557 | 62320619 | 62320619 | 62320620 | Splice_Site | CC | AA | p.G129_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - 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 |
| EN_ENDOMETRIUM | 62315979 | 62316044 | 62316019 | 62316019 | Frame_Shift_Del | T | - | p.K158fs |
| HEC251_ENDOMETRIUM | 62148485 | 62148608 | 62148495 | 62148495 | Missense_Mutation | A | C | p.I3689S |
| SKMEL5_SKIN | 62148485 | 62148608 | 62148547 | 62148547 | Missense_Mutation | G | A | p.P3672S |
| SUM149PT_BREAST | 62155639 | 62155727 | 62155703 | 62155703 | Missense_Mutation | C | G | p.E3630Q |
| CAL29_URINARY_TRACT | 62167931 | 62168044 | 62167968 | 62167968 | Missense_Mutation | G | A | p.S3434F |
| SKMEL28_SKIN | 62176327 | 62176468 | 62176395 | 62176395 | Missense_Mutation | C | T | p.E3139K |
| KON_UPPER_AERODIGESTIVE_TRACT | 62199463 | 62199589 | 62199479 | 62199479 | Missense_Mutation | T | A | p.E3030V |
| HT115_LARGE_INTESTINE | 62199463 | 62199589 | 62199512 | 62199512 | Missense_Mutation | T | G | p.K3019T |
| NCIH661_LUNG | 62199463 | 62199589 | 62199548 | 62199548 | Missense_Mutation | C | G | p.R3007P |
| SNU899_UPPER_AERODIGESTIVE_TRACT | 62199463 | 62199589 | 62199553 | 62199553 | Missense_Mutation | C | A | p.Q3005H |
| EBC1_LUNG | 62199463 | 62199589 | 62199570 | 62199570 | Missense_Mutation | C | G | p.V3000L |
| NCIH3122_LUNG | 62212697 | 62212846 | 62212701 | 62212701 | Missense_Mutation | G | T | p.A2403E |
| CAKI2_KIDNEY | 62212697 | 62212846 | 62212738 | 62212738 | Missense_Mutation | T | C | p.I2391V |
| JHUEM7_ENDOMETRIUM | 62212697 | 62212846 | 62212748 | 62212748 | Missense_Mutation | C | A | p.M2387I |
| JEG3_PLACENTA | 62217655 | 62217747 | 62217693 | 62217693 | Missense_Mutation | G | T | p.Q2191K |
| SNU324_PANCREAS | 62217655 | 62217747 | 62217705 | 62217705 | Missense_Mutation | C | T | p.A2187T |
| NO10_CENTRAL_NERVOUS_SYSTEM | 62217655 | 62217747 | 62217727 | 62217727 | Missense_Mutation | T | G | p.L2179F |
| QGP1_PANCREAS | 62221700 | 62221947 | 62221708 | 62221708 | Missense_Mutation | A | G | p.I2093T |
| MEWO_SKIN | 62221700 | 62221947 | 62221721 | 62221721 | Missense_Mutation | C | T | p.G2089R |
| DU145_PROSTATE | 62221700 | 62221947 | 62221850 | 62221850 | Missense_Mutation | C | T | p.D2046N |
| HELA_CERVIX | 62238506 | 62238609 | 62238571 | 62238571 | Missense_Mutation | C | G | p.D1639H |
| LNCAPCLONEFGC_PROSTATE | 62246620 | 62246753 | 62246640 | 62246640 | Missense_Mutation | G | T | p.L1427M |
| NCIH1623_LUNG | 62315979 | 62316044 | 62315984 | 62315984 | Missense_Mutation | G | A | p.S170L |
| HEC251_ENDOMETRIUM | 62155639 | 62155727 | 62155694 | 62155694 | Nonsense_Mutation | G | A | p.R3633* |
| HCC2157_BREAST | 62315979 | 62316044 | 62315984 | 62315984 | Nonsense_Mutation | G | C | p.S170* |
| NCIH1648_LUNG | 62217655 | 62217747 | 62217655 | 62217655 | Splice_Site | C | A | p.K2203N |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for VPS13C |
| 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 VPS13C |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for VPS13C |
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RelatedDrugs for VPS13C |
| 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 VPS13C |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| VPS13C | C4225186 | PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET | 1 | UNIPROT |
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