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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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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 | 20200324 | |
| UniProtAcc | ||
| Context |
| 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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Gene structures and expression levels for ATP6V0A1 |
| Skipped exons in the ROSMAP, MSBB, and Mayo 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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ENSG00000033627
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| DLPFC | DOWN | ENST00000588138.1 | ATP6V0A1-217:protein_coding:ATP6V0A1 | 3.316555e+00 | -1.098478e+00 | 3.124307e-05 | 3.152370e-03 |
| PCC | DOWN | ENST00000588138.1 | ATP6V0A1-217:protein_coding:ATP6V0A1 | 2.631989e+00 | -8.574166e-01 | 6.008918e-05 | 4.320966e-03 |
| CB | DOWN | ENST00000585828.5 | ATP6V0A1-207:retained_intron:ATP6V0A1 | 9.963175e+02 | -1.149894e+00 | 1.487900e-07 | 2.968201e-06 |
| CB | DOWN | ENST00000587797.1 | ATP6V0A1-214:lncRNA:ATP6V0A1 | 1.104622e+03 | -2.184374e+00 | 5.407508e-07 | 8.886296e-06 |
| CB | UP | ENST00000585525.5 | ATP6V0A1-206:protein_coding:ATP6V0A1 | 6.288640e+01 | 1.309643e+00 | 6.228434e-05 | 4.956826e-04 |
| TC | DOWN | ENST00000587797.1 | ATP6V0A1-214:lncRNA:ATP6V0A1 | 1.863817e+03 | -8.767857e-01 | 1.219523e-04 | 1.894869e-03 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for ATP6V0A1 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_113596 | chr17 | 42498924:42499042:42500707:42500923:42501197:42501304 | 42500707:42500923 |
| exon_skip_12113 | chr17 | 42501242:42501304:42502794:42502868:42507520:42507627 | 42502794:42502868 |
| exon_skip_139822 | chr17 | 42513861:42513978:42514289:42514460:42521027:42521069 | 42514289:42514460 |
| exon_skip_141340 | chr17 | 42507520:42507627:42510059:42510183:42513861:42513873 | 42510059:42510183 |
| exon_skip_14457 | chr17 | 42500813:42500923:42501197:42501304:42507520:42507627 | 42501197:42501304 |
| exon_skip_151212 | chr17 | 42468036:42468107:42470090:42470218:42477639:42477742 | 42470090:42470218 |
| exon_skip_152681 | chr17 | 42507520:42507627:42508572:42508589:42513861:42513873 | 42508572:42508589 |
| exon_skip_163381 | chr17 | 42466429:42466507:42468010:42468107:42470090:42470187 | 42468010:42468107 |
| exon_skip_171829 | chr17 | 42458941:42458963:42460848:42461011:42466429:42466507 | 42460848:42461011 |
| exon_skip_208258 | chr17 | 42483038:42483131:42487155:42487367:42490487:42490608 | 42487155:42487367 |
| exon_skip_216642 | chr17 | 42460973:42461011:42466429:42466507:42468010:42468093 | 42466429:42466507 |
| exon_skip_40339 | chr17 | 42507520:42507627:42508572:42508589:42513861:42513978 | 42508572:42508589 |
| exon_skip_42019 | chr17 | 42468036:42468107:42470090:42470218:42477660:42477742 | 42470090:42470218 |
| exon_skip_6451 | chr17 | 42468036:42468107:42477660:42477742:42478463:42478510 | 42477660:42477742 |
| exon_skip_77202 | chr17 | 42478463:42478589:42478927:42479049:42480667:42480717 | 42478927:42479049 |
| exon_skip_78949 | chr17 | 42478463:42478589:42480667:42480749:42483038:42483092 | 42480667:42480749 |
| exon_skip_86958 | chr17 | 42460973:42461011:42466429:42466507:42470090:42470218 | 42466429:42466507 |
| exon_skip_90249 | chr17 | 42487347:42487367:42490487:42490637:42494334:42494473 | 42490487:42490637 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
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| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
| exon_skip_40339 | MSBB_PG | 6.714599e-01 | 8.237500e-01 | -1.522901e-01 | 2.217165e-05 |
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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 ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000393829 | 42468010 | 42468107 | Frame-shift |
| ENST00000393829 | 42490487 | 42490637 | Frame-shift |
| ENST00000393829 | 42514289 | 42514460 | Frame-shift |
| ENST00000393829 | 42470090 | 42470218 | In-frame |
| ENST00000393829 | 42487155 | 42487367 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000393829 | 42468010 | 42468107 | Frame-shift |
| ENST00000393829 | 42490487 | 42490637 | Frame-shift |
| ENST00000393829 | 42470090 | 42470218 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000393829 | 42466429 | 42466507 | Frame-shift |
| ENST00000393829 | 42468010 | 42468107 | Frame-shift |
| ENST00000393829 | 42480667 | 42480749 | Frame-shift |
| ENST00000393829 | 42490487 | 42490637 | Frame-shift |
| ENST00000393829 | 42500707 | 42500923 | Frame-shift |
| ENST00000393829 | 42470090 | 42470218 | In-frame |
| ENST00000393829 | 42487155 | 42487367 | In-frame |
| ENST00000393829 | 42501197 | 42501304 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ATP6V0A1 |
p-ENSG00000033627_img4.png |
| Loci of skipped exons in ROSMAP 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 |
| Loci of skipped exons in MSBB 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 |
| Loci of skipped exons in Mayo 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 |
| Lost protein functional features of individual exon skipping events in ROSMAP. |
| 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 |
| Lost protein functional features of individual exon skipping events in MSBB. |
| 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 |
| Lost protein functional features of individual exon skipping events in Mayo. |
| 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 |
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3'-UTR located exon skipping events that lost miRNA binding sites in ATP6V0A1 |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for ATP6V0A1 |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - 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 |
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AD stage-associated exon skippint events for ATP6V0A1 |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
| CDR | MSBB | IFG | exon_skip_42019 | 3.941121e-01 | 3.796751e-02 | chr17 | + | 42468036 | 42468107 | 42470090 | 42470218 | 42477660 | 42477742 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ATP6V0A1 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for ATP6V0A1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | FUBP1 | exon_skip_151212 | -4.004919e-01 | 7.188404e-07 |
| CB | FXR2 | exon_skip_40339 | 5.410298e-01 | 1.806996e-13 |
| CB | PCBP2 | exon_skip_40339 | 6.093307e-01 | 1.558180e-17 |
| FL | FXR2 | exon_skip_40339 | 5.965741e-01 | 1.790979e-20 |
| FL | PCBP2 | exon_skip_40339 | 4.344876e-01 | 1.599302e-10 |
| FL | RBM24 | exon_skip_40339 | 6.326274e-01 | 1.564147e-23 |
| HCC | PCBP2 | exon_skip_40339 | -4.257023e-01 | 1.918749e-13 |
| IFG | FXR2 | exon_skip_40339 | 4.659788e-01 | 1.244738e-02 |
| PG | FXR2 | exon_skip_40339 | 7.282320e-01 | 3.577253e-33 |
| PG | PCBP2 | exon_skip_40339 | 4.980540e-01 | 1.708525e-13 |
| PG | RBM24 | exon_skip_40339 | 7.582990e-01 | 2.448023e-37 |
| STG | FXR2 | exon_skip_40339 | 5.082591e-01 | 2.314367e-07 |
| STG | RBM24 | exon_skip_40339 | 6.099521e-01 | 1.090358e-10 |
| TC | FXR2 | exon_skip_152681 | 5.851284e-01 | 4.465587e-16 |
| TC | RBM24 | exon_skip_152681 | 8.456227e-01 | 6.266842e-45 |
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RelatedDrugs for ATP6V0A1 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| 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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