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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 ATP6V0A1 |
 Gene summary |
| Gene information | Gene symbol | ATP6V0A1 | Gene ID | 535 |
| Gene name | ATPase H+ transporting V0 subunit a1 | |
| Synonyms | ATP6N1|ATP6N1A|Stv1|VPP1|Vph1|a1 | |
| Cytomap | 17q21.2 | |
| Type of gene | protein-coding | |
| Description | V-type proton ATPase 116 kDa subunit a isoform 1V-type proton ATPase 116 kDa subunit aATPase, H+ transporting, lysosomal V0 subunit a1ATPase, H+ transporting, lysosomal non-catalytic accessory protein 1 (110/116kD)H(+)-transporting two-sector ATPase, | |
| Modification date | 20180523 | |
| UniProtAcc | Q93050 | |
| Context | PubMed: ATP6V0A1 [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 ATP6V0A1 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 ATP6V0A1 |
| 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 ATP6V0A1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_152624 | 17 | 40610958:40610981:40612865:40613029:40618446:40618525 | 40612865:40613029 | ENSG00000033627.10 | ENST00000264649.6,ENST00000588629.1,ENST00000343619.4,ENST00000537728.1,ENST00000588901.1,ENST00000546249.1,ENST00000585525.1 |
| exon_skip_152626 | 17 | 40612865:40613029:40618446:40618525:40620027:40620111 | 40618446:40618525 | ENSG00000033627.10 | ENST00000264649.6,ENST00000393829.2,ENST00000588629.1,ENST00000589213.1,ENST00000343619.4,ENST00000537728.1,ENST00000587824.1,ENST00000546249.1,ENST00000585525.1 |
| exon_skip_152627 | 17 | 40612990:40613029:40618446:40618525:40622107:40622236 | 40618446:40618525 | ENSG00000033627.10 | ENST00000588901.1 |
| exon_skip_152631 | 17 | 40618446:40618525:40620027:40620125:40622107:40622205 | 40620027:40620125 | ENSG00000033627.10 | ENST00000264649.6,ENST00000393829.2,ENST00000588629.1,ENST00000343619.4,ENST00000587824.1,ENST00000546249.1 |
| exon_skip_152633 | 17 | 40620053:40620125:40622107:40622236:40629656:40629760 | 40622107:40622236 | ENSG00000033627.10 | ENST00000264649.6 |
| exon_skip_152635 | 17 | 40620053:40620125:40622107:40622236:40629677:40629760 | 40622107:40622236 | ENSG00000033627.10 | ENST00000393829.2,ENST00000592324.1,ENST00000343619.4,ENST00000546249.1 |
| exon_skip_152636 | 17 | 40630480:40630607:40630944:40631067:40632684:40632735 | 40630944:40631067 | ENSG00000033627.10 | ENST00000592324.1 |
| exon_skip_152639 | 17 | 40639364:40639385:40642504:40642655:40646351:40646491 | 40642504:40642655 | ENSG00000033627.10 | ENST00000264649.6,ENST00000393829.2,ENST00000343619.4,ENST00000544137.1,ENST00000537728.1,ENST00000546249.1,ENST00000585525.1 |
| exon_skip_152640 | 17 | 40646351:40646491:40647051:40647206:40647643:40647734 | 40647051:40647206 | ENSG00000033627.10 | ENST00000264649.6,ENST00000393829.2,ENST00000343619.4,ENST00000544137.1,ENST00000537728.1,ENST00000546249.1,ENST00000585525.1 |
| exon_skip_152642 | 17 | 40650941:40651060:40652724:40652941:40653214:40653322 | 40652724:40652941 | ENSG00000033627.10 | ENST00000264649.6,ENST00000393829.2,ENST00000343619.4,ENST00000544137.1,ENST00000537728.1,ENST00000546249.1,ENST00000585525.1 |
| exon_skip_152643 | 17 | 40653259:40653322:40654811:40654886:40659537:40659645 | 40654811:40654886 | ENSG00000033627.10 | ENST00000588138.1 |
| exon_skip_152644 | 17 | 40653259:40653322:40659537:40659645:40665878:40665959 | 40659537:40659645 | ENSG00000033627.10 | ENST00000264649.6,ENST00000393829.2,ENST00000537728.1 |
| exon_skip_152648 | 17 | 40659537:40659645:40660589:40660607:40665878:40665959 | 40660589:40660607 | ENSG00000033627.10 | ENST00000343619.4,ENST00000586201.1,ENST00000544137.1,ENST00000588138.1,ENST00000585525.1 |
| exon_skip_152649 | 17 | 40659537:40659645:40662076:40662201:40665878:40665959 | 40662076:40662201 | ENSG00000033627.10 | ENST00000587510.1 |
| exon_skip_152655 | 17 | 40665878:40665996:40666306:40666478:40673044:40673063 | 40666306:40666478 | ENSG00000033627.10 | ENST00000264649.6,ENST00000393829.2,ENST00000585828.1,ENST00000343619.4,ENST00000544137.1,ENST00000537728.1,ENST00000588806.1,ENST00000588138.1,ENST00000546249.1,ENST00000585525.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ATP6V0A1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_152624 | 17 | 40610958:40610981:40612865:40613029:40618446:40618525 | 40612865:40613029 | ENSG00000033627.10 | ENST00000546249.1,ENST00000588629.1,ENST00000588901.1,ENST00000537728.1,ENST00000264649.6,ENST00000585525.1,ENST00000343619.4 |
| exon_skip_152626 | 17 | 40612865:40613029:40618446:40618525:40620027:40620111 | 40618446:40618525 | ENSG00000033627.10 | ENST00000393829.2,ENST00000546249.1,ENST00000588629.1,ENST00000537728.1,ENST00000264649.6,ENST00000585525.1,ENST00000343619.4,ENST00000587824.1,ENST00000589213.1 |
| exon_skip_152627 | 17 | 40612990:40613029:40618446:40618525:40622107:40622236 | 40618446:40618525 | ENSG00000033627.10 | ENST00000588901.1 |
| exon_skip_152631 | 17 | 40618446:40618525:40620027:40620125:40622107:40622205 | 40620027:40620125 | ENSG00000033627.10 | ENST00000393829.2,ENST00000546249.1,ENST00000588629.1,ENST00000264649.6,ENST00000343619.4,ENST00000587824.1 |
| exon_skip_152633 | 17 | 40620053:40620125:40622107:40622236:40629656:40629760 | 40622107:40622236 | ENSG00000033627.10 | ENST00000264649.6 |
| exon_skip_152635 | 17 | 40620053:40620125:40622107:40622236:40629677:40629760 | 40622107:40622236 | ENSG00000033627.10 | ENST00000393829.2,ENST00000546249.1,ENST00000343619.4,ENST00000592324.1 |
| exon_skip_152636 | 17 | 40630480:40630607:40630944:40631067:40632684:40632735 | 40630944:40631067 | ENSG00000033627.10 | ENST00000592324.1 |
| exon_skip_152639 | 17 | 40639364:40639385:40642504:40642655:40646351:40646491 | 40642504:40642655 | ENSG00000033627.10 | ENST00000393829.2,ENST00000546249.1,ENST00000537728.1,ENST00000264649.6,ENST00000585525.1,ENST00000343619.4,ENST00000544137.1 |
| exon_skip_152640 | 17 | 40646351:40646491:40647051:40647206:40647643:40647734 | 40647051:40647206 | ENSG00000033627.10 | ENST00000393829.2,ENST00000546249.1,ENST00000537728.1,ENST00000264649.6,ENST00000585525.1,ENST00000343619.4,ENST00000544137.1 |
| exon_skip_152642 | 17 | 40650941:40651060:40652724:40652941:40653214:40653322 | 40652724:40652941 | ENSG00000033627.10 | ENST00000393829.2,ENST00000546249.1,ENST00000537728.1,ENST00000264649.6,ENST00000585525.1,ENST00000343619.4,ENST00000544137.1 |
| exon_skip_152643 | 17 | 40653259:40653322:40654811:40654886:40659537:40659645 | 40654811:40654886 | ENSG00000033627.10 | ENST00000588138.1 |
| exon_skip_152644 | 17 | 40653259:40653322:40659537:40659645:40665878:40665959 | 40659537:40659645 | ENSG00000033627.10 | ENST00000393829.2,ENST00000537728.1,ENST00000264649.6 |
| exon_skip_152648 | 17 | 40659537:40659645:40660589:40660607:40665878:40665959 | 40660589:40660607 | ENSG00000033627.10 | ENST00000585525.1,ENST00000343619.4,ENST00000544137.1,ENST00000586201.1,ENST00000588138.1 |
| exon_skip_152649 | 17 | 40659537:40659645:40662076:40662201:40665878:40665959 | 40662076:40662201 | ENSG00000033627.10 | ENST00000587510.1 |
| exon_skip_152655 | 17 | 40665878:40665996:40666306:40666478:40673044:40673063 | 40666306:40666478 | ENSG00000033627.10 | ENST00000393829.2,ENST00000546249.1,ENST00000537728.1,ENST00000264649.6,ENST00000585525.1,ENST00000343619.4,ENST00000544137.1,ENST00000588138.1,ENST00000585828.1,ENST00000588806.1 |
| 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 ATP6V0A1 |
| 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 |
| ENST00000393829 | 40618446 | 40618525 | Frame-shift |
| ENST00000393829 | 40620027 | 40620125 | Frame-shift |
| ENST00000393829 | 40642504 | 40642655 | Frame-shift |
| ENST00000393829 | 40647051 | 40647206 | Frame-shift |
| ENST00000393829 | 40652724 | 40652941 | Frame-shift |
| ENST00000393829 | 40666306 | 40666478 | Frame-shift |
| ENST00000393829 | 40622107 | 40622236 | In-frame |
| ENST00000393829 | 40659537 | 40659645 | 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 |
| ENST00000393829 | 40618446 | 40618525 | Frame-shift |
| ENST00000393829 | 40620027 | 40620125 | Frame-shift |
| ENST00000393829 | 40642504 | 40642655 | Frame-shift |
| ENST00000393829 | 40647051 | 40647206 | Frame-shift |
| ENST00000393829 | 40652724 | 40652941 | Frame-shift |
| ENST00000393829 | 40666306 | 40666478 | Frame-shift |
| ENST00000393829 | 40622107 | 40622236 | In-frame |
| ENST00000393829 | 40659537 | 40659645 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ATP6V0A1 |
| 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 |
| ENST00000393829 | 3045 | 837 | 40622107 | 40622236 | 462 | 590 | 98 | 141 |
| ENST00000393829 | 3045 | 837 | 40659537 | 40659645 | 2172 | 2279 | 668 | 704 |
| 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 |
| ENST00000393829 | 3045 | 837 | 40622107 | 40622236 | 462 | 590 | 98 | 141 |
| ENST00000393829 | 3045 | 837 | 40659537 | 40659645 | 2172 | 2279 | 668 | 704 |
| 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 |
| Q93050 | 98 | 141 | 141 | 141 | Alternative sequence | ID=VSP_043532;Note=In isoform 3. E->EAELHHQQ;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q93050 | 98 | 141 | 1 | 837 | Chain | ID=PRO_0000119211;Note=V-type proton ATPase 116 kDa subunit a isoform 1 |
| Q93050 | 98 | 141 | 1 | 388 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q93050 | 668 | 704 | 1 | 837 | Chain | ID=PRO_0000119211;Note=V-type proton ATPase 116 kDa subunit a isoform 1 |
| Q93050 | 668 | 704 | 659 | 724 | 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 |
| Q93050 | 98 | 141 | 141 | 141 | Alternative sequence | ID=VSP_043532;Note=In isoform 3. E->EAELHHQQ;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q93050 | 98 | 141 | 1 | 837 | Chain | ID=PRO_0000119211;Note=V-type proton ATPase 116 kDa subunit a isoform 1 |
| Q93050 | 98 | 141 | 1 | 388 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q93050 | 668 | 704 | 1 | 837 | Chain | ID=PRO_0000119211;Note=V-type proton ATPase 116 kDa subunit a isoform 1 |
| Q93050 | 668 | 704 | 659 | 724 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for ATP6V0A1 |
| - 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 |
| UCEC | TCGA-BG-A0W1-01 | exon_skip_152635 exon_skip_152633 | 40622108 | 40622236 | 40622193 | 40622199 | Frame_Shift_Del | AATTAAA | - | p.E127fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_152639 | 40642505 | 40642655 | 40642562 | 40642562 | Frame_Shift_Del | C | - | p.P362fs |
| LUSC | TCGA-43-5668-01 | exon_skip_152639 | 40642505 | 40642655 | 40642586 | 40642586 | Nonsense_Mutation | A | T | p.K376* |
| BLCA | TCGA-BT-A20W-01 | exon_skip_152639 | 40642505 | 40642655 | 40642597 | 40642597 | Nonsense_Mutation | T | G | p.Y372* |
| LUAD | TCGA-MP-A4TA-01 | exon_skip_152642 | 40652725 | 40652941 | 40652822 | 40652822 | Nonsense_Mutation | A | T | p.K593* |
| CESC | TCGA-JX-A3Q8-01 | exon_skip_152627 exon_skip_152626 | 40618447 | 40618525 | 40618526 | 40618526 | Splice_Site | G | C | e2+1 |
| STAD | TCGA-BR-8382-01 | exon_skip_152642 | 40652725 | 40652941 | 40652943 | 40652943 | Splice_Site | T | C | . |
| STAD | TCGA-BR-8382-01 | exon_skip_152642 | 40652725 | 40652941 | 40652943 | 40652943 | Splice_Site | T | C | p.Q632_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 |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 40620028 | 40620125 | 40620101 | 40620101 | Frame_Shift_Del | C | - | p.F90fs |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 40620028 | 40620125 | 40620101 | 40620101 | Frame_Shift_Del | C | - | p.F90fs |
| LS180_LARGE_INTESTINE | 40612866 | 40613029 | 40613016 | 40613016 | Missense_Mutation | T | C | p.V35A |
| SNUC5_LARGE_INTESTINE | 40620028 | 40620125 | 40620070 | 40620070 | Missense_Mutation | T | C | p.M80T |
| NCIH3255_LUNG | 40622108 | 40622236 | 40622132 | 40622132 | Missense_Mutation | G | A | p.E107K |
| SUDHL6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 40622108 | 40622236 | 40622148 | 40622148 | Missense_Mutation | A | T | p.N112I |
| FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 40622108 | 40622236 | 40622175 | 40622175 | Missense_Mutation | A | G | p.N121S |
| AML193_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 40622108 | 40622236 | 40622211 | 40622211 | Missense_Mutation | G | A | p.R133H |
| JHUEM7_ENDOMETRIUM | 40622108 | 40622236 | 40622223 | 40622223 | Missense_Mutation | A | C | p.Q137P |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 40642505 | 40642655 | 40642652 | 40642652 | Missense_Mutation | C | A | p.P391T |
| LNCAPCLONEFGC_PROSTATE | 40642505 | 40642655 | 40642653 | 40642653 | Missense_Mutation | C | A | p.P391Q |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 40647052 | 40647206 | 40647064 | 40647064 | Missense_Mutation | G | A | p.V443M |
| HMC18_BREAST | 40647052 | 40647206 | 40647090 | 40647090 | Missense_Mutation | A | T | p.L451F |
| KYSE140_OESOPHAGUS | 40647052 | 40647206 | 40647097 | 40647097 | Missense_Mutation | G | A | p.G454S |
| MFE319_ENDOMETRIUM | 40652725 | 40652941 | 40652813 | 40652813 | Missense_Mutation | A | G | p.I590V |
| HEC1A_ENDOMETRIUM | 40659538 | 40659645 | 40659637 | 40659637 | Missense_Mutation | G | A | p.A702T |
| HEC1_ENDOMETRIUM | 40659538 | 40659645 | 40659637 | 40659637 | Missense_Mutation | G | A | p.A702T |
| HEC1B_ENDOMETRIUM | 40659538 | 40659645 | 40659637 | 40659637 | Missense_Mutation | G | A | p.A702T |
| ACHN_KIDNEY | 40666307 | 40666478 | 40666331 | 40666331 | Missense_Mutation | T | C | p.M758T |
| SW756_CERVIX | 40666307 | 40666478 | 40666386 | 40666386 | Missense_Mutation | C | G | p.F776L |
| AN3CA_ENDOMETRIUM | 40666307 | 40666478 | 40666405 | 40666405 | Missense_Mutation | G | A | p.A783T |
| SNU1040_LARGE_INTESTINE | 40666307 | 40666478 | 40666427 | 40666427 | Missense_Mutation | T | C | p.L790P |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 40618447 | 40618525 | 40618524 | 40618524 | Splice_Site | T | C | p.L65L |
| MM386_SKIN | 40618447 | 40618525 | 40618525 | 40618525 | Splice_Site | C | T | p.R66* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ATP6V0A1 |
| 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 ATP6V0A1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ATP6V0A1 |
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RelatedDrugs for ATP6V0A1 |
| 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 ATP6V0A1 |
| 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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