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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 ATP6V1H |
 Gene summary |
| Gene information | Gene symbol | ATP6V1H | Gene ID | 51606 |
| Gene name | ATPase H+ transporting V1 subunit H | |
| Synonyms | CGI-11|MSTP042|NBP1|SFD|SFDalpha|SFDbeta|VMA13 | |
| Cytomap | 8q11.23 | |
| Type of gene | protein-coding | |
| Description | V-type proton ATPase subunit HATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit HV-ATPase 50/57 kDa subunitsV-ATPase subunit Hnef-binding protein 1protein VMA13 homologvacuolar ATP synthase subunit Hvacuolar ATPase subunit Hvacuolar proton p | |
| Modification date | 20180522 | |
| UniProtAcc | Q9UI12 | |
| Context | PubMed: ATP6V1H [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 |
| ATP6V1H | GO:0006897 | endocytosis | 12032142 |
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Exon skipping events across known transcript of Ensembl for ATP6V1H 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 ATP6V1H |
| 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 ATP6V1H |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_489684 | 8 | 54628459:54628584:54656136:54656250:54669114:54669216 | 54656136:54656250 | ENSG00000047249.12 | ENST00000524164.1,ENST00000396774.2,ENST00000520188.1,ENST00000359530.2,ENST00000355221.3 |
| exon_skip_489685 | 8 | 54628459:54628584:54656136:54656250:54682177:54682248 | 54656136:54656250 | ENSG00000047249.12 | ENST00000523899.1 |
| exon_skip_489693 | 8 | 54656186:54656250:54669114:54669216:54682177:54682248 | 54669114:54669216 | ENSG00000047249.12 | ENST00000524164.1,ENST00000396774.2,ENST00000520188.1,ENST00000359530.2,ENST00000355221.3 |
| exon_skip_489694 | 8 | 54656146:54656250:54669114:54669216:54708206:54708321 | 54669114:54669216 | ENSG00000047249.12 | ENST00000523426.1 |
| exon_skip_489699 | 8 | 54669114:54669216:54682177:54682303:54684548:54684625 | 54682177:54682303 | ENSG00000047249.12 | ENST00000524164.1,ENST00000396774.2,ENST00000520188.1,ENST00000359530.2,ENST00000355221.3,ENST00000521707.1 |
| exon_skip_489703 | 8 | 54682213:54682303:54684548:54684727:54708206:54708321 | 54684548:54684727 | ENSG00000047249.12 | ENST00000524164.1,ENST00000396774.2,ENST00000520188.1,ENST00000359530.2,ENST00000355221.3 |
| exon_skip_489706 | 8 | 54684548:54684727:54708206:54708399:54714358:54714428 | 54708206:54708399 | ENSG00000047249.12 | ENST00000524164.1,ENST00000396774.2,ENST00000520188.1,ENST00000359530.2,ENST00000355221.3 |
| exon_skip_489712 | 8 | 54714358:54714456:54719301:54719418:54723723:54723777 | 54719301:54719418 | ENSG00000047249.12 | ENST00000522849.1 |
| exon_skip_489713 | 8 | 54714358:54714456:54723723:54723777:54727221:54727326 | 54723723:54723777 | ENSG00000047249.12 | ENST00000524164.1,ENST00000396774.2,ENST00000520188.1,ENST00000521900.1,ENST00000359530.2 |
| exon_skip_489717 | 8 | 54727291:54727326:54729976:54730090:54742003:54742093 | 54729976:54730090 | ENSG00000047249.12 | ENST00000524164.1,ENST00000396774.2,ENST00000520188.1,ENST00000521377.1,ENST00000519588.1,ENST00000359530.2,ENST00000355221.3 |
| exon_skip_489721 | 8 | 54729976:54730090:54742003:54742093:54745543:54745569 | 54742003:54742093 | ENSG00000047249.12 | ENST00000396774.2,ENST00000520188.1,ENST00000521377.1,ENST00000519588.1,ENST00000359530.2,ENST00000355221.3 |
| exon_skip_489723 | 8 | 54745620:54745646:54754137:54754285:54755593:54755805 | 54754137:54754285 | ENSG00000047249.12 | ENST00000524164.1,ENST00000359530.2,ENST00000521335.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ATP6V1H |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_489684 | 8 | 54628459:54628584:54656136:54656250:54669114:54669216 | 54656136:54656250 | ENSG00000047249.12 | ENST00000355221.3,ENST00000520188.1,ENST00000359530.2,ENST00000396774.2,ENST00000524164.1 |
| exon_skip_489685 | 8 | 54628459:54628584:54656136:54656250:54682177:54682248 | 54656136:54656250 | ENSG00000047249.12 | ENST00000523899.1 |
| exon_skip_489693 | 8 | 54656186:54656250:54669114:54669216:54682177:54682248 | 54669114:54669216 | ENSG00000047249.12 | ENST00000355221.3,ENST00000520188.1,ENST00000359530.2,ENST00000396774.2,ENST00000524164.1 |
| exon_skip_489694 | 8 | 54656146:54656250:54669114:54669216:54708206:54708321 | 54669114:54669216 | ENSG00000047249.12 | ENST00000523426.1 |
| exon_skip_489699 | 8 | 54669114:54669216:54682177:54682303:54684548:54684625 | 54682177:54682303 | ENSG00000047249.12 | ENST00000355221.3,ENST00000520188.1,ENST00000359530.2,ENST00000396774.2,ENST00000524164.1,ENST00000521707.1 |
| exon_skip_489703 | 8 | 54682213:54682303:54684548:54684727:54708206:54708321 | 54684548:54684727 | ENSG00000047249.12 | ENST00000355221.3,ENST00000520188.1,ENST00000359530.2,ENST00000396774.2,ENST00000524164.1 |
| exon_skip_489706 | 8 | 54684548:54684727:54708206:54708399:54714358:54714428 | 54708206:54708399 | ENSG00000047249.12 | ENST00000355221.3,ENST00000520188.1,ENST00000359530.2,ENST00000396774.2,ENST00000524164.1 |
| exon_skip_489712 | 8 | 54714358:54714456:54719301:54719418:54723723:54723777 | 54719301:54719418 | ENSG00000047249.12 | ENST00000522849.1 |
| exon_skip_489713 | 8 | 54714358:54714456:54723723:54723777:54727221:54727326 | 54723723:54723777 | ENSG00000047249.12 | ENST00000520188.1,ENST00000359530.2,ENST00000396774.2,ENST00000524164.1,ENST00000521900.1 |
| exon_skip_489717 | 8 | 54727291:54727326:54729976:54730090:54742003:54742093 | 54729976:54730090 | ENSG00000047249.12 | ENST00000355221.3,ENST00000520188.1,ENST00000359530.2,ENST00000396774.2,ENST00000524164.1,ENST00000521377.1,ENST00000519588.1 |
| exon_skip_489721 | 8 | 54729976:54730090:54742003:54742093:54745543:54745569 | 54742003:54742093 | ENSG00000047249.12 | ENST00000355221.3,ENST00000520188.1,ENST00000359530.2,ENST00000396774.2,ENST00000521377.1,ENST00000519588.1 |
| exon_skip_489723 | 8 | 54745620:54745646:54754137:54754285:54755593:54755805 | 54754137:54754285 | ENSG00000047249.12 | ENST00000359530.2,ENST00000524164.1,ENST00000521335.1 |
| 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 ATP6V1H |
| 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 |
| ENST00000359530 | 54754137 | 54754285 | 3UTR-3CDS |
| ENST00000359530 | 54684548 | 54684727 | Frame-shift |
| ENST00000396774 | 54684548 | 54684727 | Frame-shift |
| ENST00000359530 | 54708206 | 54708399 | Frame-shift |
| ENST00000396774 | 54708206 | 54708399 | Frame-shift |
| ENST00000359530 | 54656136 | 54656250 | In-frame |
| ENST00000396774 | 54656136 | 54656250 | In-frame |
| ENST00000359530 | 54669114 | 54669216 | In-frame |
| ENST00000396774 | 54669114 | 54669216 | In-frame |
| ENST00000359530 | 54682177 | 54682303 | In-frame |
| ENST00000396774 | 54682177 | 54682303 | In-frame |
| ENST00000359530 | 54723723 | 54723777 | In-frame |
| ENST00000396774 | 54723723 | 54723777 | In-frame |
| ENST00000359530 | 54729976 | 54730090 | In-frame |
| ENST00000396774 | 54729976 | 54730090 | In-frame |
| ENST00000359530 | 54742003 | 54742093 | In-frame |
| ENST00000396774 | 54742003 | 54742093 | 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 |
| ENST00000359530 | 54754137 | 54754285 | 3UTR-3CDS |
| ENST00000359530 | 54684548 | 54684727 | Frame-shift |
| ENST00000396774 | 54684548 | 54684727 | Frame-shift |
| ENST00000359530 | 54708206 | 54708399 | Frame-shift |
| ENST00000396774 | 54708206 | 54708399 | Frame-shift |
| ENST00000359530 | 54656136 | 54656250 | In-frame |
| ENST00000396774 | 54656136 | 54656250 | In-frame |
| ENST00000359530 | 54669114 | 54669216 | In-frame |
| ENST00000396774 | 54669114 | 54669216 | In-frame |
| ENST00000359530 | 54682177 | 54682303 | In-frame |
| ENST00000396774 | 54682177 | 54682303 | In-frame |
| ENST00000359530 | 54723723 | 54723777 | In-frame |
| ENST00000396774 | 54723723 | 54723777 | In-frame |
| ENST00000359530 | 54729976 | 54730090 | In-frame |
| ENST00000396774 | 54729976 | 54730090 | In-frame |
| ENST00000359530 | 54742003 | 54742093 | In-frame |
| ENST00000396774 | 54742003 | 54742093 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ATP6V1H |
| 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 |
| ENST00000359530 | 2024 | 483 | 54742003 | 54742093 | 481 | 570 | 72 | 102 |
| ENST00000396774 | 1909 | 483 | 54742003 | 54742093 | 424 | 513 | 72 | 102 |
| ENST00000359530 | 2024 | 483 | 54729976 | 54730090 | 571 | 684 | 102 | 140 |
| ENST00000396774 | 1909 | 483 | 54729976 | 54730090 | 514 | 627 | 102 | 140 |
| ENST00000359530 | 2024 | 483 | 54723723 | 54723777 | 790 | 843 | 175 | 193 |
| ENST00000396774 | 1909 | 483 | 54723723 | 54723777 | 733 | 786 | 175 | 193 |
| ENST00000359530 | 2024 | 483 | 54682177 | 54682303 | 1314 | 1439 | 350 | 391 |
| ENST00000396774 | 1909 | 483 | 54682177 | 54682303 | 1257 | 1382 | 350 | 391 |
| ENST00000359530 | 2024 | 483 | 54669114 | 54669216 | 1440 | 1541 | 392 | 425 |
| ENST00000396774 | 1909 | 483 | 54669114 | 54669216 | 1383 | 1484 | 392 | 425 |
| ENST00000359530 | 2024 | 483 | 54656136 | 54656250 | 1542 | 1655 | 426 | 463 |
| ENST00000396774 | 1909 | 483 | 54656136 | 54656250 | 1485 | 1598 | 426 | 463 |
| 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 |
| ENST00000359530 | 2024 | 483 | 54742003 | 54742093 | 481 | 570 | 72 | 102 |
| ENST00000396774 | 1909 | 483 | 54742003 | 54742093 | 424 | 513 | 72 | 102 |
| ENST00000359530 | 2024 | 483 | 54729976 | 54730090 | 571 | 684 | 102 | 140 |
| ENST00000396774 | 1909 | 483 | 54729976 | 54730090 | 514 | 627 | 102 | 140 |
| ENST00000359530 | 2024 | 483 | 54723723 | 54723777 | 790 | 843 | 175 | 193 |
| ENST00000396774 | 1909 | 483 | 54723723 | 54723777 | 733 | 786 | 175 | 193 |
| ENST00000359530 | 2024 | 483 | 54682177 | 54682303 | 1314 | 1439 | 350 | 391 |
| ENST00000396774 | 1909 | 483 | 54682177 | 54682303 | 1257 | 1382 | 350 | 391 |
| ENST00000359530 | 2024 | 483 | 54669114 | 54669216 | 1440 | 1541 | 392 | 425 |
| ENST00000396774 | 1909 | 483 | 54669114 | 54669216 | 1383 | 1484 | 392 | 425 |
| ENST00000359530 | 2024 | 483 | 54656136 | 54656250 | 1542 | 1655 | 426 | 463 |
| ENST00000396774 | 1909 | 483 | 54656136 | 54656250 | 1485 | 1598 | 426 | 463 |
| 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 |
| Q9UI12 | 72 | 102 | 1 | 483 | Chain | ID=PRO_0000124193;Note=V-type proton ATPase subunit H |
| Q9UI12 | 72 | 102 | 1 | 483 | Chain | ID=PRO_0000124193;Note=V-type proton ATPase subunit H |
| Q9UI12 | 102 | 140 | 1 | 483 | Chain | ID=PRO_0000124193;Note=V-type proton ATPase subunit H |
| Q9UI12 | 102 | 140 | 1 | 483 | Chain | ID=PRO_0000124193;Note=V-type proton ATPase subunit H |
| Q9UI12 | 102 | 140 | 129 | 129 | Sequence conflict | Note=M->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9UI12 | 102 | 140 | 129 | 129 | Sequence conflict | Note=M->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9UI12 | 175 | 193 | 176 | 193 | Alternative sequence | ID=VSP_012274;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.1 |
| Q9UI12 | 175 | 193 | 176 | 193 | Alternative sequence | ID=VSP_012274;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.1 |
| Q9UI12 | 175 | 193 | 1 | 483 | Chain | ID=PRO_0000124193;Note=V-type proton ATPase subunit H |
| Q9UI12 | 175 | 193 | 1 | 483 | Chain | ID=PRO_0000124193;Note=V-type proton ATPase subunit H |
| Q9UI12 | 350 | 391 | 1 | 483 | Chain | ID=PRO_0000124193;Note=V-type proton ATPase subunit H |
| Q9UI12 | 350 | 391 | 1 | 483 | Chain | ID=PRO_0000124193;Note=V-type proton ATPase subunit H |
| Q9UI12 | 392 | 425 | 1 | 483 | Chain | ID=PRO_0000124193;Note=V-type proton ATPase subunit H |
| Q9UI12 | 392 | 425 | 1 | 483 | Chain | ID=PRO_0000124193;Note=V-type proton ATPase subunit H |
| Q9UI12 | 426 | 463 | 1 | 483 | Chain | ID=PRO_0000124193;Note=V-type proton ATPase subunit H |
| Q9UI12 | 426 | 463 | 1 | 483 | Chain | ID=PRO_0000124193;Note=V-type proton ATPase subunit H |
| 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 |
| Q9UI12 | 72 | 102 | 1 | 483 | Chain | ID=PRO_0000124193;Note=V-type proton ATPase subunit H |
| Q9UI12 | 72 | 102 | 1 | 483 | Chain | ID=PRO_0000124193;Note=V-type proton ATPase subunit H |
| Q9UI12 | 102 | 140 | 1 | 483 | Chain | ID=PRO_0000124193;Note=V-type proton ATPase subunit H |
| Q9UI12 | 102 | 140 | 1 | 483 | Chain | ID=PRO_0000124193;Note=V-type proton ATPase subunit H |
| Q9UI12 | 102 | 140 | 129 | 129 | Sequence conflict | Note=M->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9UI12 | 102 | 140 | 129 | 129 | Sequence conflict | Note=M->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9UI12 | 175 | 193 | 176 | 193 | Alternative sequence | ID=VSP_012274;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.1 |
| Q9UI12 | 175 | 193 | 176 | 193 | Alternative sequence | ID=VSP_012274;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.1 |
| Q9UI12 | 175 | 193 | 1 | 483 | Chain | ID=PRO_0000124193;Note=V-type proton ATPase subunit H |
| Q9UI12 | 175 | 193 | 1 | 483 | Chain | ID=PRO_0000124193;Note=V-type proton ATPase subunit H |
| Q9UI12 | 350 | 391 | 1 | 483 | Chain | ID=PRO_0000124193;Note=V-type proton ATPase subunit H |
| Q9UI12 | 350 | 391 | 1 | 483 | Chain | ID=PRO_0000124193;Note=V-type proton ATPase subunit H |
| Q9UI12 | 392 | 425 | 1 | 483 | Chain | ID=PRO_0000124193;Note=V-type proton ATPase subunit H |
| Q9UI12 | 392 | 425 | 1 | 483 | Chain | ID=PRO_0000124193;Note=V-type proton ATPase subunit H |
| Q9UI12 | 426 | 463 | 1 | 483 | Chain | ID=PRO_0000124193;Note=V-type proton ATPase subunit H |
| Q9UI12 | 426 | 463 | 1 | 483 | Chain | ID=PRO_0000124193;Note=V-type proton ATPase subunit H |
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SNVs in the skipped exons for ATP6V1H |
| - 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. |
ATP6V1H_LIHC_exon_skip_489706_psi_boxplot.png |
ATP6V1H_SKCM_exon_skip_489706_psi_boxplot.png |
ATP6V1H_SKCM_exon_skip_489713_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-A39Y-01 | exon_skip_489694 exon_skip_489693 | 54669115 | 54669216 | 54669195 | 54669195 | Frame_Shift_Del | T | - | p.E381fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_489703 | 54684549 | 54684727 | 54684713 | 54684713 | Frame_Shift_Del | T | - | p.K277fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_489706 | 54708207 | 54708399 | 54708303 | 54708303 | Frame_Shift_Del | T | - | p.E240fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_489706 | 54708207 | 54708399 | 54708341 | 54708341 | Frame_Shift_Del | A | - | p.S228fs |
| LIHC | TCGA-DD-A3A1-01 | exon_skip_489706 | 54708207 | 54708399 | 54708341 | 54708341 | Frame_Shift_Del | A | - | p.S228fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_489723 | 54754138 | 54754285 | 54754206 | 54754206 | Frame_Shift_Del | G | - | p.P15fs |
| BLCA | TCGA-ZF-AA4W-01 | exon_skip_489706 | 54708207 | 54708399 | 54708340 | 54708341 | Frame_Shift_Ins | - | A | p.S228fs |
| UCEC | TCGA-D1-A17M-01 | exon_skip_489706 | 54708207 | 54708399 | 54708340 | 54708341 | Frame_Shift_Ins | - | A | p.S246fs |
| PRAD | TCGA-HC-7817-01 | exon_skip_489723 | 54754138 | 54754285 | 54754237 | 54754238 | Frame_Shift_Ins | - | C | p.Y5fs |
| HNSC | TCGA-CN-4727-01 | exon_skip_489694 exon_skip_489693 | 54669115 | 54669216 | 54669197 | 54669197 | Nonsense_Mutation | C | A | p.E381* |
| HNSC | TCGA-CN-4727-01 | exon_skip_489694 exon_skip_489693 | 54669115 | 54669216 | 54669197 | 54669197 | Nonsense_Mutation | C | A | p.E399* |
| LUSC | TCGA-85-6175-01 | exon_skip_489699 | 54682178 | 54682303 | 54682288 | 54682288 | Nonsense_Mutation | G | C | p.Y355* |
| LUSC | TCGA-60-2724-01 | exon_skip_489703 | 54684549 | 54684727 | 54684613 | 54684613 | Nonsense_Mutation | C | A | p.E329* |
| SKCM | TCGA-Z2-AA3V-06 | exon_skip_489706 | 54708207 | 54708399 | 54708257 | 54708257 | Nonsense_Mutation | G | A | p.Q256* |
| BLCA | TCGA-R3-A69X-01 | exon_skip_489717 | 54729977 | 54730090 | 54730081 | 54730081 | Nonsense_Mutation | G | A | p.Q106* |
| UCEC | TCGA-AP-A056-01 | exon_skip_489703 | 54684549 | 54684727 | 54684728 | 54684728 | Splice_Site | C | A | e9-1 |
| SKCM | TCGA-ER-A19M-06 | exon_skip_489713 | 54723724 | 54723777 | 54723722 | 54723722 | Splice_Site | A | T | . |
| ESCA | TCGA-L5-A4OT-01 | exon_skip_489721 | 54742004 | 54742093 | 54742095 | 54742096 | Splice_Site | - | A | e3-2 |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-ER-A19M-06 |
| Cancer type: SKCM | |
| ESID: exon_skip_489713 | |
| Skipped exon start: 54723724 | |
| Skipped exon end: 54723777 | |
| Mutation start: 54723722 | |
| Mutation end: 54723722 | |
| Mutation type: Splice_Site | |
| Reference seq: A | |
| Mutation seq: T | |
| AAchange: . | |
exon_skip_489713_SKCM_TCGA-ER-A19M-06.png | |
 | Sample: TCGA-DD-A1EG-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_489706 | |
| Skipped exon start: 54708207 | |
| Skipped exon end: 54708399 | |
| Mutation start: 54708341 | |
| Mutation end: 54708341 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: A | |
| Mutation seq: - | |
| AAchange: p.S228fs | |
exon_skip_103075_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_100809_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_101656_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_10700_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_109033_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_110000_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_110381_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_110545_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_11218_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_11256_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_11259_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_11263_LIHC_TCGA-DD-A1EG-01.png | |
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| - 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 |
| HEC151_ENDOMETRIUM | 54656137 | 54656250 | 54656152 | 54656152 | Missense_Mutation | A | C | p.L459R |
| EB3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 54656137 | 54656250 | 54656207 | 54656207 | Missense_Mutation | T | C | p.M441V |
| MFM223_BREAST | 54669115 | 54669216 | 54669156 | 54669156 | Missense_Mutation | G | T | p.H412Q |
| PANC0813_PANCREAS | 54682178 | 54682303 | 54682194 | 54682195 | Missense_Mutation | TC | AA | p.386_387KN>NY |
| SW1088_CENTRAL_NERVOUS_SYSTEM | 54682178 | 54682303 | 54682194 | 54682195 | Missense_Mutation | TC | AA | p.386_387KN>NY |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 54682178 | 54682303 | 54682203 | 54682203 | Missense_Mutation | T | C | p.N384D |
| TT2609C02_THYROID | 54682178 | 54682303 | 54682221 | 54682221 | Missense_Mutation | C | G | p.E378Q |
| HKA1_SKIN | 54682178 | 54682303 | 54682265 | 54682265 | Missense_Mutation | C | T | p.R363K |
| HEC59_ENDOMETRIUM | 54682178 | 54682303 | 54682293 | 54682293 | Missense_Mutation | C | T | p.E354K |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 54684549 | 54684727 | 54684571 | 54684571 | Missense_Mutation | C | G | p.G343R |
| SNU410_PANCREAS | 54684549 | 54684727 | 54684581 | 54684581 | Missense_Mutation | C | A | p.L339F |
| MKN7_STOMACH | 54684549 | 54684727 | 54684621 | 54684621 | Missense_Mutation | T | A | p.Y326F |
| LB1047EBV_MATCHED_NORMAL_TISSUE | 54684549 | 54684727 | 54684621 | 54684621 | Missense_Mutation | T | C | p.Y326C |
| LB1047RCC_KIDNEY | 54684549 | 54684727 | 54684621 | 54684621 | Missense_Mutation | T | C | p.Y326C |
| SEKI_SKIN | 54684549 | 54684727 | 54684636 | 54684636 | Missense_Mutation | A | G | p.L321S |
| SH4_SKIN | 54684549 | 54684727 | 54684687 | 54684687 | Missense_Mutation | T | G | p.E304A |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 54684549 | 54684727 | 54684693 | 54684693 | Missense_Mutation | C | T | p.R302H |
| HS939T_SKIN | 54708207 | 54708399 | 54708221 | 54708221 | Missense_Mutation | G | A | p.L286F |
| MCC13_SKIN | 54708207 | 54708399 | 54708233 | 54708233 | Missense_Mutation | T | G | p.T282P |
| HT115_LARGE_INTESTINE | 54708207 | 54708399 | 54708235 | 54708235 | Missense_Mutation | A | G | p.V281A |
| SNU1272_KIDNEY | 54708207 | 54708399 | 54708275 | 54708275 | Missense_Mutation | C | A | p.V268F |
| MDAMB175VII_BREAST | 54708207 | 54708399 | 54708338 | 54708338 | Missense_Mutation | T | C | p.I247V |
| NCIH1651_LUNG | 54723724 | 54723777 | 54723734 | 54723734 | Missense_Mutation | G | C | p.S190C |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 54723724 | 54723777 | 54723738 | 54723738 | Missense_Mutation | C | T | p.V189I |
| TTC442_SOFT_TISSUE | 54723724 | 54723777 | 54723770 | 54723770 | Missense_Mutation | C | T | p.R178H |
| HEC59_ENDOMETRIUM | 54723724 | 54723777 | 54723770 | 54723770 | Missense_Mutation | C | T | p.R178H |
| KE39_STOMACH | 54723724 | 54723777 | 54723771 | 54723771 | Missense_Mutation | G | A | p.R178C |
| MOGGCCM_CENTRAL_NERVOUS_SYSTEM | 54723724 | 54723777 | 54723771 | 54723771 | Missense_Mutation | G | A | p.R178C |
| SNU1040_LARGE_INTESTINE | 54723724 | 54723777 | 54723771 | 54723771 | Missense_Mutation | G | A | p.R178C |
| LOVO_LARGE_INTESTINE | 54729977 | 54730090 | 54730010 | 54730010 | Missense_Mutation | C | T | p.M129I |
| GP5D_LARGE_INTESTINE | 54729977 | 54730090 | 54730071 | 54730071 | Missense_Mutation | C | T | p.S109N |
| ESS1_ENDOMETRIUM | 54754138 | 54754285 | 54754210 | 54754210 | Missense_Mutation | A | G | p.V14A |
| RT112_URINARY_TRACT | 54754138 | 54754285 | 54754231 | 54754231 | Missense_Mutation | C | T | p.R7Q |
| SNU1040_LARGE_INTESTINE | 54684549 | 54684727 | 54684628 | 54684628 | Nonsense_Mutation | G | A | p.Q324* |
| SNU81_LARGE_INTESTINE | 54742004 | 54742093 | 54742051 | 54742051 | Nonsense_Mutation | C | A | p.E87* |
| REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 54669115 | 54669216 | 54669116 | 54669116 | Splice_Site | G | A | p.R426W |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ATP6V1H |
| 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 ATP6V1H |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ATP6V1H |
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RelatedDrugs for ATP6V1H |
| 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 ATP6V1H |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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