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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 ATP6V1C2 |
 Gene summary |
| Gene information | Gene symbol | ATP6V1C2 | Gene ID | 245973 |
| Gene name | ATPase H+ transporting V1 subunit C2 | |
| Synonyms | ATP6C2|VMA5 | |
| Cytomap | - | |
| Type of gene | protein-coding | |
| Description | V-type proton ATPase subunit C 2ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2V-ATPase C2 subunitvacuolar proton pump subunit C 2 | |
| Modification date | 20180523 | |
| UniProtAcc | Q8NEY4 | |
| Context | PubMed: ATP6V1C2 [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 ATP6V1C2 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 ATP6V1C2 |
| 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 ATP6V1C2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_323457 | 2 | 10862949:10863104:10866627:10866695:10894106:10894192 | 10866627:10866695 | ENSG00000143882.5 | ENST00000272238.4,ENST00000381661.3 |
| exon_skip_323458 | 2 | 10866627:10866695:10894106:10894192:10904456:10904551 | 10894106:10894192 | ENSG00000143882.5 | ENST00000272238.4,ENST00000381661.3 |
| exon_skip_323461 | 2 | 10894106:10894192:10904456:10904551:10908844:10908936 | 10904456:10904551 | ENSG00000143882.5 | ENST00000272238.4,ENST00000381661.3 |
| exon_skip_323466 | 2 | 10904456:10904551:10908844:10908936:10911964:10912063 | 10908844:10908936 | ENSG00000143882.5 | ENST00000272238.4,ENST00000381661.3 |
| exon_skip_323468 | 2 | 10912667:10912736:10914913:10915006:10915103:10915197 | 10914913:10915006 | ENSG00000143882.5 | ENST00000272238.4,ENST00000381661.3 |
| exon_skip_323471 | 2 | 10915103:10915197:10917710:10917848:10918697:10918795 | 10917710:10917848 | ENSG00000143882.5 | ENST00000272238.4 |
| exon_skip_323478 | 2 | 10918697:10918795:10922368:10922501:10923299:10923369 | 10922368:10922501 | ENSG00000143882.5 | ENST00000272238.4,ENST00000480289.1,ENST00000381661.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ATP6V1C2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_323457 | 2 | 10862949:10863104:10866627:10866695:10894106:10894192 | 10866627:10866695 | ENSG00000143882.5 | ENST00000272238.4,ENST00000381661.3 |
| exon_skip_323458 | 2 | 10866627:10866695:10894106:10894192:10904456:10904551 | 10894106:10894192 | ENSG00000143882.5 | ENST00000272238.4,ENST00000381661.3 |
| exon_skip_323461 | 2 | 10894106:10894192:10904456:10904551:10908844:10908936 | 10904456:10904551 | ENSG00000143882.5 | ENST00000272238.4,ENST00000381661.3 |
| exon_skip_323466 | 2 | 10904456:10904551:10908844:10908936:10911964:10912063 | 10908844:10908936 | ENSG00000143882.5 | ENST00000272238.4,ENST00000381661.3 |
| exon_skip_323468 | 2 | 10912667:10912736:10914913:10915006:10915103:10915197 | 10914913:10915006 | ENSG00000143882.5 | ENST00000272238.4,ENST00000381661.3 |
| exon_skip_323471 | 2 | 10915103:10915197:10917710:10917848:10918697:10918795 | 10917710:10917848 | ENSG00000143882.5 | ENST00000272238.4 |
| exon_skip_323478 | 2 | 10918697:10918795:10922368:10922501:10923299:10923369 | 10922368:10922501 | ENSG00000143882.5 | ENST00000272238.4,ENST00000381661.3,ENST00000480289.1 |
| 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 ATP6V1C2 |
| 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 |
| ENST00000272238 | 10866627 | 10866695 | Frame-shift |
| ENST00000272238 | 10894106 | 10894192 | Frame-shift |
| ENST00000272238 | 10904456 | 10904551 | Frame-shift |
| ENST00000272238 | 10908844 | 10908936 | Frame-shift |
| ENST00000272238 | 10922368 | 10922501 | Frame-shift |
| ENST00000272238 | 10914913 | 10915006 | In-frame |
| ENST00000272238 | 10917710 | 10917848 | 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 |
| ENST00000272238 | 10866627 | 10866695 | Frame-shift |
| ENST00000272238 | 10894106 | 10894192 | Frame-shift |
| ENST00000272238 | 10904456 | 10904551 | Frame-shift |
| ENST00000272238 | 10908844 | 10908936 | Frame-shift |
| ENST00000272238 | 10922368 | 10922501 | Frame-shift |
| ENST00000272238 | 10914913 | 10915006 | In-frame |
| ENST00000272238 | 10917710 | 10917848 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ATP6V1C2 |
| 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 |
| ENST00000272238 | 1582 | 427 | 10914913 | 10915006 | 748 | 840 | 213 | 243 |
| ENST00000272238 | 1582 | 427 | 10917710 | 10917848 | 935 | 1072 | 275 | 321 |
| 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 |
| ENST00000272238 | 1582 | 427 | 10914913 | 10915006 | 748 | 840 | 213 | 243 |
| ENST00000272238 | 1582 | 427 | 10917710 | 10917848 | 935 | 1072 | 275 | 321 |
| 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 |
| Q8NEY4 | 213 | 243 | 1 | 427 | Chain | ID=PRO_0000285669;Note=V-type proton ATPase subunit C 2 |
| Q8NEY4 | 275 | 321 | 276 | 321 | Alternative sequence | ID=VSP_024883;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:12384298,ECO:0000303|PubMed:15489334;Dbxref=PMID:12384298,PMID:15489334 |
| Q8NEY4 | 275 | 321 | 1 | 427 | Chain | ID=PRO_0000285669;Note=V-type proton ATPase subunit C 2 |
| 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 |
| Q8NEY4 | 213 | 243 | 1 | 427 | Chain | ID=PRO_0000285669;Note=V-type proton ATPase subunit C 2 |
| Q8NEY4 | 275 | 321 | 276 | 321 | Alternative sequence | ID=VSP_024883;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:12384298,ECO:0000303|PubMed:15489334;Dbxref=PMID:12384298,PMID:15489334 |
| Q8NEY4 | 275 | 321 | 1 | 427 | Chain | ID=PRO_0000285669;Note=V-type proton ATPase subunit C 2 |
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SNVs in the skipped exons for ATP6V1C2 |
| - 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 |
| HNSC | TCGA-CQ-6225-01 | exon_skip_323466 | 10908845 | 10908936 | 10908907 | 10908908 | Frame_Shift_Del | AA | - | p.T147fs |
| HNSC | TCGA-CQ-6225-01 | exon_skip_323466 | 10908845 | 10908936 | 10908907 | 10908908 | Frame_Shift_Del | AA | - | p.TN147fs |
| ESCA | TCGA-XP-A8T8-01 | exon_skip_323471 | 10917711 | 10917848 | 10917819 | 10917820 | Frame_Shift_Del | AG | - | p.E315fs |
| LGG | TCGA-R8-A6ML-01 | exon_skip_323471 | 10917711 | 10917848 | 10917819 | 10917820 | Frame_Shift_Del | AG | - | p.R312fs |
| LGG | TCGA-TM-A84H-01 | exon_skip_323471 | 10917711 | 10917848 | 10917819 | 10917820 | Frame_Shift_Del | AG | - | p.R312fs |
| LUAD | TCGA-55-A494-01 | exon_skip_323471 | 10917711 | 10917848 | 10917819 | 10917820 | Frame_Shift_Del | AG | - | p.R312fs |
| LUAD | TCGA-97-8177-01 | exon_skip_323471 | 10917711 | 10917848 | 10917819 | 10917820 | Frame_Shift_Del | AG | - | p.R312fs |
| PAAD | TCGA-IB-7891-01 | exon_skip_323471 | 10917711 | 10917848 | 10917819 | 10917820 | Frame_Shift_Del | AG | - | p.R312fs |
| PAAD | TCGA-IB-7893-01 | exon_skip_323471 | 10917711 | 10917848 | 10917819 | 10917820 | Frame_Shift_Del | AG | - | p.R312fs |
| PAAD | TCGA-OE-A75W-01 | exon_skip_323471 | 10917711 | 10917848 | 10917819 | 10917820 | Frame_Shift_Del | AG | - | p.R312fs |
| PRAD | TCGA-J4-A67N-01 | exon_skip_323471 | 10917711 | 10917848 | 10917819 | 10917820 | Frame_Shift_Del | AG | - | p.R312fs |
| THCA | TCGA-FE-A233-01 | exon_skip_323471 | 10917711 | 10917848 | 10917819 | 10917820 | Frame_Shift_Del | AG | - | p.R312fs |
| THCA | TCGA-KS-A41I-01 | exon_skip_323471 | 10917711 | 10917848 | 10917819 | 10917820 | Frame_Shift_Del | AG | - | p.R312fs |
| UCS | TCGA-N8-A4PP-01 | exon_skip_323471 | 10917711 | 10917848 | 10917819 | 10917820 | Frame_Shift_Del | AG | - | p.R312fs |
| KIRP | TCGA-UZ-A9Q1-01 | exon_skip_323478 | 10922369 | 10922501 | 10922432 | 10922436 | Frame_Shift_Del | GCGTT | - | p.375_376del |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_323478 | 10922369 | 10922501 | 10922482 | 10922482 | Frame_Shift_Del | C | - | p.A347fs |
| STAD | TCGA-BR-8363-01 | exon_skip_323461 | 10904457 | 10904551 | 10904470 | 10904471 | Frame_Shift_Ins | - | T | p.S99fs |
| STAD | TCGA-BR-8363-01 | exon_skip_323461 | 10904457 | 10904551 | 10904471 | 10904472 | Frame_Shift_Ins | - | T | p.S99fs |
| UCEC | TCGA-AP-A0LG-01 | exon_skip_323471 | 10917711 | 10917848 | 10917818 | 10917819 | Frame_Shift_Ins | - | AG | p.E315fs |
| STAD | TCGA-BR-6452-01 | exon_skip_323471 | 10917711 | 10917848 | 10917819 | 10917820 | Frame_Shift_Ins | - | AG | p.D311fs |
| STAD | TCGA-CG-5733-01 | exon_skip_323471 | 10917711 | 10917848 | 10917819 | 10917820 | Frame_Shift_Ins | - | AG | p.D311fs |
| STAD | TCGA-HU-A4G9-01 | exon_skip_323471 | 10917711 | 10917848 | 10917819 | 10917820 | Frame_Shift_Ins | - | AG | p.D311fs |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-AP-A0LG-01 |
| Cancer type: UCEC | |
| ESID: exon_skip_323471 | |
| Skipped exon start: 10917711 | |
| Skipped exon end: 10917848 | |
| Mutation start: 10917818 | |
| Mutation end: 10917819 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: AG | |
| AAchange: p.E315fs | |
exon_skip_323471_UCEC_TCGA-AP-A0LG-01.png | |
exon_skip_84515_UCEC_TCGA-AP-A0LG-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 |
| SNUC4_LARGE_INTESTINE | 10917711 | 10917848 | 10917819 | 10917822 | Frame_Shift_Del | AGAG | - | p.RE314fs |
| PLCPRF5_LIVER | 10866628 | 10866695 | 10866671 | 10866671 | Missense_Mutation | G | T | p.G58V |
| NCIH1573_LUNG | 10894107 | 10894192 | 10894141 | 10894141 | Missense_Mutation | G | A | p.V78I |
| HCC515_LUNG | 10894107 | 10894192 | 10894190 | 10894190 | Missense_Mutation | G | T | p.G94V |
| KG1C_CENTRAL_NERVOUS_SYSTEM | 10904457 | 10904551 | 10904525 | 10904525 | Missense_Mutation | G | T | p.V118L |
| RCCER_KIDNEY | 10904457 | 10904551 | 10904545 | 10904545 | Missense_Mutation | A | G | p.I124M |
| SNU1040_LARGE_INTESTINE | 10908845 | 10908936 | 10908887 | 10908887 | Missense_Mutation | G | A | p.A141T |
| BICR56_UPPER_AERODIGESTIVE_TRACT | 10914914 | 10915006 | 10914978 | 10914978 | Missense_Mutation | G | C | p.D235H |
| SNU1040_LARGE_INTESTINE | 10914914 | 10915006 | 10914993 | 10914993 | Missense_Mutation | G | T | p.A240S |
| EN_ENDOMETRIUM | 10917711 | 10917848 | 10917741 | 10917741 | Missense_Mutation | T | C | p.S286P |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 10917711 | 10917848 | 10917774 | 10917774 | Missense_Mutation | A | G | p.T297A |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 10917711 | 10917848 | 10917793 | 10917793 | Missense_Mutation | A | C | p.D303A |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 10917711 | 10917848 | 10917824 | 10917824 | Missense_Mutation | G | C | p.E313D |
| WM1799_SKIN | 10922369 | 10922501 | 10922434 | 10922434 | Missense_Mutation | G | A | p.R376H |
| SNU1076_UPPER_AERODIGESTIVE_TRACT | 10914914 | 10915006 | 10915006 | 10915007 | Splice_Site | - | GT | p.K244fs |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ATP6V1C2 |
| 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 ATP6V1C2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ATP6V1C2 |
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RelatedDrugs for ATP6V1C2 |
| 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 ATP6V1C2 |
| 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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