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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 ATP6V1E1 |
 Gene summary |
| Gene information | Gene symbol | ATP6V1E1 | Gene ID | 529 |
| Gene name | ATPase H+ transporting V1 subunit E1 | |
| Synonyms | ARCL2C|ATP6E|ATP6E2|ATP6V1E|P31|Vma4 | |
| Cytomap | 22q11.21 | |
| Type of gene | protein-coding | |
| Description | V-type proton ATPase subunit E 1ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1H(+)-transporting two-sector ATPase, 31kDa subunitH+-transporting ATP synthase chain E, vacuolarV-ATPase 31 kDa subunitV-ATPase subunit E 1V-ATPase, subunit Evac | |
| Modification date | 20200313 | |
| 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 ATP6V1E1 |
| 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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ENSG00000131100
| 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 |
| TC | DOWN | ENST00000399796.6 | ATP6V1E1-202:protein_coding:ATP6V1E1 | 1.084878e+02 | -8.685490e-01 | 1.927070e-05 | 4.351995e-04 |
| 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 ATP6V1E1 |
| 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_135117 | chr22 | 17594539:17594616:17598194:17598288:17600027:17600095 | 17598194:17598288 |
| exon_skip_139004 | chr22 | 17600033:17600095:17601092:17601181:17612812:17612878 | 17601092:17601181 |
| exon_skip_152071 | chr22 | 17594605:17594616:17598194:17598288:17600027:17600095 | 17598194:17598288 |
| exon_skip_156787 | chr22 | 17594539:17594616:17598194:17598288:17600027:17600083 | 17598194:17598288 |
| exon_skip_202203 | chr22 | 17613211:17613320:17619461:17619526:17628603:17628733 | 17619461:17619526 |
| exon_skip_218640 | chr22 | 17613263:17613320:17619461:17619526:17628603:17628733 | 17619461:17619526 |
| exon_skip_238919 | chr22 | 17613211:17613320:17619034:17619127:17619461:17619526 | 17619034:17619127 |
| exon_skip_51968 | chr22 | 17600027:17600095:17601092:17601181:17612812:17612878 | 17601092:17601181 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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Open reading frame (ORF) annotation in the exon skipping event for ATP6V1E1 |
| 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 |
| ENST00000253413 | 17598194 | 17598288 | Frame-shift |
| ENST00000253413 | 17601092 | 17601181 | 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 |
| ENST00000253413 | 17601092 | 17601181 | 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 |
| ENST00000253413 | 17598194 | 17598288 | Frame-shift |
| ENST00000253413 | 17601092 | 17601181 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ATP6V1E1 |
p-ENSG00000131100_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 |
| ENST00000253413 | 1419 | 226 | 17601092 | 17601181 | 460 | 548 | 92 | 121 |
| 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 |
| ENST00000253413 | 1419 | 226 | 17601092 | 17601181 | 460 | 548 | 92 | 121 |
| 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 |
| ENST00000253413 | 1419 | 226 | 17601092 | 17601181 | 460 | 548 | 92 | 121 |
| 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 |
| P36543 | 92 | 121 | 93 | 122 | Alternative sequence | ID=VSP_044589;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| P36543 | 92 | 121 | 2 | 226 | Chain | ID=PRO_0000117295;Note=V-type proton ATPase subunit E 1 |
| 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 |
| P36543 | 92 | 121 | 93 | 122 | Alternative sequence | ID=VSP_044589;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| P36543 | 92 | 121 | 2 | 226 | Chain | ID=PRO_0000117295;Note=V-type proton ATPase subunit E 1 |
| 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 |
| P36543 | 92 | 121 | 93 | 122 | Alternative sequence | ID=VSP_044589;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| P36543 | 92 | 121 | 2 | 226 | Chain | ID=PRO_0000117295;Note=V-type proton ATPase subunit E 1 |
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3'-UTR located exon skipping events that lost miRNA binding sites in ATP6V1E1 |
| 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 ATP6V1E1 |
| - 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 ATP6V1E1 |
| 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 |
| ADstage | MSBB | IFG | exon_skip_202203 | -4.730860e-01 | 1.100475e-02 | chr22 | - | 17613211 | 17613320 | 17619461 | 17619526 | 17628603 | 17628733 |
| CDR | MSBB | IFG | exon_skip_202203 | -4.321892e-01 | 2.163075e-02 | chr22 | - | 17613211 | 17613320 | 17619461 | 17619526 | 17628603 | 17628733 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ATP6V1E1 |
| 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 ATP6V1E1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for ATP6V1E1 |
| 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 ATP6V1E1 |
| 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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