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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 ATP6V0A4 |
 Gene summary |
| Gene information | Gene symbol | ATP6V0A4 | Gene ID | 50617 |
| Gene name | ATPase H+ transporting V0 subunit a4 | |
| Synonyms | A4|ATP6N1B|ATP6N2|RDRTA2|RTA1C|RTADR|STV1|VPH1|VPP2 | |
| Cytomap | 7q34 | |
| Type of gene | protein-coding | |
| Description | V-type proton ATPase 116 kDa subunit a isoform 4V-type proton ATPase 116 kDa subunit aATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1BATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic ac | |
| Modification date | 20180523 | |
| UniProtAcc | Q9HBG4 | |
| Context | PubMed: ATP6V0A4 [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 ATP6V0A4 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 ATP6V0A4 |
| 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 ATP6V0A4 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_479711 | 7 | 138391270:138391462:138394368:138394540:138400508:138400626 | 138394368:138394540 | ENSG00000105929.11 | ENST00000353492.4,ENST00000393054.1,ENST00000310018.2 |
| exon_skip_479714 | 7 | 138394368:138394540:138400508:138400626:138406641:138406764 | 138400508:138400626 | ENSG00000105929.11 | ENST00000353492.4,ENST00000393054.1,ENST00000310018.2 |
| exon_skip_479717 | 7 | 138400508:138400626:138406641:138406770:138413505:138413607 | 138406641:138406770 | ENSG00000105929.11 | ENST00000353492.4,ENST00000393054.1,ENST00000310018.2 |
| exon_skip_479718 | 7 | 138406641:138406770:138413505:138413607:138417621:138417838 | 138413505:138413607 | ENSG00000105929.11 | ENST00000353492.4,ENST00000393054.1,ENST00000310018.2 |
| exon_skip_479720 | 7 | 138418932:138418999:138424284:138424378:138429867:138430025 | 138424284:138424378 | ENSG00000105929.11 | ENST00000353492.4,ENST00000393054.1,ENST00000310018.2 |
| exon_skip_479724 | 7 | 138424284:138424378:138429867:138430025:138432169:138432309 | 138429867:138430025 | ENSG00000105929.11 | ENST00000353492.4,ENST00000393054.1,ENST00000310018.2 |
| exon_skip_479728 | 7 | 138444620:138444623:138447084:138447179:138447644:138447770 | 138447084:138447179 | ENSG00000105929.11 | ENST00000483139.1,ENST00000353492.4,ENST00000393054.1,ENST00000310018.2 |
| exon_skip_479741 | 7 | 138470988:138471005:138482778:138483042:138484059:138484305 | 138482778:138483042 | ENSG00000105929.11 | ENST00000479909.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ATP6V0A4 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_479711 | 7 | 138391270:138391462:138394368:138394540:138400508:138400626 | 138394368:138394540 | ENSG00000105929.11 | ENST00000310018.2,ENST00000393054.1,ENST00000353492.4 |
| exon_skip_479714 | 7 | 138394368:138394540:138400508:138400626:138406641:138406764 | 138400508:138400626 | ENSG00000105929.11 | ENST00000310018.2,ENST00000393054.1,ENST00000353492.4 |
| exon_skip_479718 | 7 | 138406641:138406770:138413505:138413607:138417621:138417838 | 138413505:138413607 | ENSG00000105929.11 | ENST00000310018.2,ENST00000393054.1,ENST00000353492.4 |
| exon_skip_479720 | 7 | 138418932:138418999:138424284:138424378:138429867:138430025 | 138424284:138424378 | ENSG00000105929.11 | ENST00000310018.2,ENST00000393054.1,ENST00000353492.4 |
| exon_skip_479724 | 7 | 138424284:138424378:138429867:138430025:138432169:138432309 | 138429867:138430025 | ENSG00000105929.11 | ENST00000310018.2,ENST00000393054.1,ENST00000353492.4 |
| exon_skip_479728 | 7 | 138444620:138444623:138447084:138447179:138447644:138447770 | 138447084:138447179 | ENSG00000105929.11 | ENST00000310018.2,ENST00000393054.1,ENST00000353492.4,ENST00000483139.1 |
| exon_skip_479741 | 7 | 138470988:138471005:138482778:138483042:138484059:138484305 | 138482778:138483042 | ENSG00000105929.11 | ENST00000479909.1 |
| 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 ATP6V0A4 |
| 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 |
| ENST00000310018 | 138394368 | 138394540 | Frame-shift |
| ENST00000353492 | 138394368 | 138394540 | Frame-shift |
| ENST00000393054 | 138394368 | 138394540 | Frame-shift |
| ENST00000310018 | 138400508 | 138400626 | Frame-shift |
| ENST00000353492 | 138400508 | 138400626 | Frame-shift |
| ENST00000393054 | 138400508 | 138400626 | Frame-shift |
| ENST00000310018 | 138424284 | 138424378 | Frame-shift |
| ENST00000353492 | 138424284 | 138424378 | Frame-shift |
| ENST00000393054 | 138424284 | 138424378 | Frame-shift |
| ENST00000310018 | 138429867 | 138430025 | Frame-shift |
| ENST00000353492 | 138429867 | 138430025 | Frame-shift |
| ENST00000393054 | 138429867 | 138430025 | Frame-shift |
| ENST00000310018 | 138447084 | 138447179 | Frame-shift |
| ENST00000353492 | 138447084 | 138447179 | Frame-shift |
| ENST00000393054 | 138447084 | 138447179 | Frame-shift |
| ENST00000310018 | 138406641 | 138406770 | In-frame |
| ENST00000353492 | 138406641 | 138406770 | In-frame |
| ENST00000393054 | 138406641 | 138406770 | In-frame |
| ENST00000310018 | 138413505 | 138413607 | In-frame |
| ENST00000353492 | 138413505 | 138413607 | In-frame |
| ENST00000393054 | 138413505 | 138413607 | 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 |
| ENST00000310018 | 138394368 | 138394540 | Frame-shift |
| ENST00000353492 | 138394368 | 138394540 | Frame-shift |
| ENST00000393054 | 138394368 | 138394540 | Frame-shift |
| ENST00000310018 | 138400508 | 138400626 | Frame-shift |
| ENST00000353492 | 138400508 | 138400626 | Frame-shift |
| ENST00000393054 | 138400508 | 138400626 | Frame-shift |
| ENST00000310018 | 138424284 | 138424378 | Frame-shift |
| ENST00000353492 | 138424284 | 138424378 | Frame-shift |
| ENST00000393054 | 138424284 | 138424378 | Frame-shift |
| ENST00000310018 | 138429867 | 138430025 | Frame-shift |
| ENST00000353492 | 138429867 | 138430025 | Frame-shift |
| ENST00000393054 | 138429867 | 138430025 | Frame-shift |
| ENST00000310018 | 138447084 | 138447179 | Frame-shift |
| ENST00000353492 | 138447084 | 138447179 | Frame-shift |
| ENST00000393054 | 138447084 | 138447179 | Frame-shift |
| ENST00000310018 | 138413505 | 138413607 | In-frame |
| ENST00000353492 | 138413505 | 138413607 | In-frame |
| ENST00000393054 | 138413505 | 138413607 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ATP6V0A4 |
| 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 |
| ENST00000310018 | 3152 | 840 | 138413505 | 138413607 | 2192 | 2293 | 636 | 670 |
| ENST00000353492 | 2726 | 840 | 138413505 | 138413607 | 1997 | 2098 | 636 | 670 |
| ENST00000393054 | 3107 | 840 | 138413505 | 138413607 | 2147 | 2248 | 636 | 670 |
| ENST00000310018 | 3152 | 840 | 138406641 | 138406770 | 2294 | 2422 | 670 | 713 |
| ENST00000353492 | 2726 | 840 | 138406641 | 138406770 | 2099 | 2227 | 670 | 713 |
| ENST00000393054 | 3107 | 840 | 138406641 | 138406770 | 2249 | 2377 | 670 | 713 |
| 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 |
| ENST00000310018 | 3152 | 840 | 138413505 | 138413607 | 2192 | 2293 | 636 | 670 |
| ENST00000353492 | 2726 | 840 | 138413505 | 138413607 | 1997 | 2098 | 636 | 670 |
| ENST00000393054 | 3107 | 840 | 138413505 | 138413607 | 2147 | 2248 | 636 | 670 |
| 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 |
| Q9HBG4 | 636 | 670 | 1 | 840 | Chain | ID=PRO_0000119219;Note=V-type proton ATPase 116 kDa subunit a isoform 4 |
| Q9HBG4 | 636 | 670 | 1 | 840 | Chain | ID=PRO_0000119219;Note=V-type proton ATPase 116 kDa subunit a isoform 4 |
| Q9HBG4 | 636 | 670 | 1 | 840 | Chain | ID=PRO_0000119219;Note=V-type proton ATPase 116 kDa subunit a isoform 4 |
| Q9HBG4 | 636 | 670 | 598 | 642 | Topological domain | Note=Vacuolar;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9HBG4 | 636 | 670 | 598 | 642 | Topological domain | Note=Vacuolar;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9HBG4 | 636 | 670 | 598 | 642 | Topological domain | Note=Vacuolar;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9HBG4 | 636 | 670 | 663 | 727 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9HBG4 | 636 | 670 | 663 | 727 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9HBG4 | 636 | 670 | 663 | 727 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9HBG4 | 636 | 670 | 643 | 662 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9HBG4 | 636 | 670 | 643 | 662 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9HBG4 | 636 | 670 | 643 | 662 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9HBG4 | 670 | 713 | 1 | 840 | Chain | ID=PRO_0000119219;Note=V-type proton ATPase 116 kDa subunit a isoform 4 |
| Q9HBG4 | 670 | 713 | 1 | 840 | Chain | ID=PRO_0000119219;Note=V-type proton ATPase 116 kDa subunit a isoform 4 |
| Q9HBG4 | 670 | 713 | 1 | 840 | Chain | ID=PRO_0000119219;Note=V-type proton ATPase 116 kDa subunit a isoform 4 |
| Q9HBG4 | 670 | 713 | 663 | 727 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9HBG4 | 670 | 713 | 663 | 727 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9HBG4 | 670 | 713 | 663 | 727 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| Q9HBG4 | 636 | 670 | 1 | 840 | Chain | ID=PRO_0000119219;Note=V-type proton ATPase 116 kDa subunit a isoform 4 |
| Q9HBG4 | 636 | 670 | 1 | 840 | Chain | ID=PRO_0000119219;Note=V-type proton ATPase 116 kDa subunit a isoform 4 |
| Q9HBG4 | 636 | 670 | 1 | 840 | Chain | ID=PRO_0000119219;Note=V-type proton ATPase 116 kDa subunit a isoform 4 |
| Q9HBG4 | 636 | 670 | 598 | 642 | Topological domain | Note=Vacuolar;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9HBG4 | 636 | 670 | 598 | 642 | Topological domain | Note=Vacuolar;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9HBG4 | 636 | 670 | 598 | 642 | Topological domain | Note=Vacuolar;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9HBG4 | 636 | 670 | 663 | 727 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9HBG4 | 636 | 670 | 663 | 727 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9HBG4 | 636 | 670 | 663 | 727 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9HBG4 | 636 | 670 | 643 | 662 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9HBG4 | 636 | 670 | 643 | 662 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9HBG4 | 636 | 670 | 643 | 662 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for ATP6V0A4 |
| - 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-A1EG-01 | exon_skip_479711 | 138394369 | 138394540 | 138394452 | 138394452 | Frame_Shift_Del | A | - | p.F782fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_479711 | 138394369 | 138394540 | 138394452 | 138394452 | Frame_Shift_Del | A | - | p.F782fs |
| STAD | TCGA-BR-4361-01 | exon_skip_479711 | 138394369 | 138394540 | 138394461 | 138394461 | Frame_Shift_Del | A | - | p.I780fs |
| COAD | TCGA-D5-7000-01 | exon_skip_479717 | 138406642 | 138406770 | 138406767 | 138406767 | Nonsense_Mutation | G | A | p.Q672X |
| SKCM | TCGA-EE-A3JI-06 | exon_skip_479724 | 138429868 | 138430025 | 138430021 | 138430021 | Nonsense_Mutation | C | T | p.W442* |
| SKCM | TCGA-EE-A3JI-06 | exon_skip_479724 | 138429868 | 138430025 | 138430021 | 138430021 | Nonsense_Mutation | C | T | p.W442X |
| PAAD | TCGA-IB-7651-01 | exon_skip_479711 | 138394369 | 138394540 | 138394541 | 138394541 | Splice_Site | C | A | . |
| - 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 |
| HEC59_ENDOMETRIUM | 138394369 | 138394540 | 138394382 | 138394382 | Missense_Mutation | G | T | p.L806M |
| SCLC22H_LUNG | 138394369 | 138394540 | 138394385 | 138394385 | Missense_Mutation | C | A | p.A805S |
| SNU175_LARGE_INTESTINE | 138394369 | 138394540 | 138394385 | 138394385 | Missense_Mutation | C | T | p.A805T |
| SCLC21H_LUNG | 138394369 | 138394540 | 138394385 | 138394385 | Missense_Mutation | C | A | p.A805S |
| MDAMB453_BREAST | 138394369 | 138394540 | 138394496 | 138394496 | Missense_Mutation | G | C | p.Q768E |
| SUDHL16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 138400509 | 138400626 | 138400590 | 138400590 | Missense_Mutation | G | A | p.H726Y |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 138400509 | 138400626 | 138400604 | 138400604 | Missense_Mutation | A | G | p.V721A |
| SNU1041_UPPER_AERODIGESTIVE_TRACT | 138406642 | 138406770 | 138406669 | 138406669 | Missense_Mutation | G | T | p.H704Q |
| NCIH2066_LUNG | 138413506 | 138413607 | 138413510 | 138413510 | Missense_Mutation | G | C | p.S669C |
| SNU520_STOMACH | 138413506 | 138413607 | 138413561 | 138413561 | Missense_Mutation | G | A | p.P652L |
| SKES1_BONE | 138424285 | 138424378 | 138424359 | 138424359 | Missense_Mutation | T | G | p.S500R |
| NCIBL2126_MATCHED_NORMAL_TISSUE | 138429868 | 138430025 | 138429894 | 138429894 | Missense_Mutation | T | A | p.Q484H |
| SW684_SOFT_TISSUE | 138429868 | 138430025 | 138429959 | 138429960 | Missense_Mutation | CC | TT | p.G463S |
| SW684_SOFT_TISSUE | 138429868 | 138430025 | 138429970 | 138429970 | Missense_Mutation | G | A | p.S459F |
| WM1552C_SKIN | 138429868 | 138430025 | 138430000 | 138430000 | Missense_Mutation | C | T | p.R449H |
| BC3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 138447085 | 138447179 | 138447170 | 138447170 | Missense_Mutation | T | C | p.N143D |
| SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 138394369 | 138394540 | 138394379 | 138394379 | Nonsense_Mutation | G | A | p.R807* |
| NCIH630_LARGE_INTESTINE | 138406642 | 138406770 | 138406642 | 138406642 | Splice_Site | C | A | p.E713D |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ATP6V0A4 |
| 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 ATP6V0A4 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ATP6V0A4 |
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RelatedDrugs for ATP6V0A4 |
| 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 ATP6V0A4 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| ATP6V0A4 | C1864498 | RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE | 2 | CTD_human;ORPHANET;UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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