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Open reading frame (ORF) annotation in the exon skipping event | |
3'-UTR located exon skipping events lost miRNA binding sites | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Gene summary for ATP6V1B2 |
Gene summary |
Gene information | Gene symbol | ATP6V1B2 | Gene ID | 526 |
Gene name | ATPase H+ transporting V1 subunit B2 | |
Synonyms | ATP6B1B2|ATP6B2|DOOD|HO57|VATB|VPP3|Vma2|ZLS2 | |
Cytomap | 8p21.3 | |
Type of gene | protein-coding | |
Description | V-type proton ATPase subunit B, brain isoformATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2H+ transporting two-sector ATPaseV-ATPase B2 subunitV-ATPase subunit B 2endomembrane proton pump 58 kDa subunittesticular secretory protein Li 65 | |
Modification date | 20200313 | |
UniProtAcc | ||
Context | - 27340853(Human ApoE varepsilon2 Promotes Regulatory Mechanisms of Bioenergetic and Synaptic Function in Female Brain: A Focus on V-type H+-ATPase) |
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 ATP6V1B2 |
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. |
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. |
Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
PG | DOWN | ENST00000523478.5 | ATP6V1B2-205:nonsense_mediated_decay:ATP6V1B2 | 9.859216e+00 | -1.230183e+00 | 2.822553e-05 | 1.079240e-03 |
CB | UP | ENST00000520830.1 | ATP6V1B2-203:nonsense_mediated_decay:ATP6V1B2 | 4.898890e+00 | 9.141731e-01 | 2.211551e-04 | 1.450441e-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 ATP6V1B2 |
Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
All exon skipping events in AD cohorts. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
exon_skip_108265 | chr8 | 20197439:20197542:20204484:20204539:20209433:20209531 | 20204484:20204539 |
exon_skip_206678 | chr8 | 20211177:20211316:20211652:20211753:20212102:20212199 | 20211652:20211753 |
exon_skip_208559 | chr8 | 20214818:20214968:20216413:20216495:20217220:20217324 | 20216413:20216495 |
exon_skip_290537 | chr8 | 20212782:20212905:20214818:20214968:20216413:20216495 | 20214818:20214968 |
exon_skip_69730 | chr8 | 20197439:20197542:20203959:20204083:20204484:20204539 | 20203959:20204083 |
exon_skip_80355 | chr8 | 20210346:20210439:20210569:20210646:20211177:20211254 | 20210569:20210646 |
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 ATP6V1B2 |
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 |
ENST00000276390 | 20214818 | 20214968 | Frame-shift |
ENST00000276390 | 20216413 | 20216495 | Frame-shift |
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 |
ENST00000276390 | 20211652 | 20211753 | 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 |
ENST00000276390 | 20216413 | 20216495 | Frame-shift |
ENST00000276390 | 20210569 | 20210646 | In-frame |
ENST00000276390 | 20211652 | 20211753 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ATP6V1B2 |
p-ENSG00000147416_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 |
ENST00000276390 | 2892 | 511 | 20211652 | 20211753 | 645 | 745 | 201 | 235 |
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 |
ENST00000276390 | 2892 | 511 | 20210569 | 20210646 | 427 | 503 | 129 | 154 |
ENST00000276390 | 2892 | 511 | 20211652 | 20211753 | 645 | 745 | 201 | 235 |
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 |
P21281 | 201 | 235 | 1 | 511 | Chain | ID=PRO_0000144626;Note=V-type proton ATPase subunit B%2C brain isoform |
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 |
P21281 | 129 | 154 | 1 | 511 | Chain | ID=PRO_0000144626;Note=V-type proton ATPase subunit B%2C brain isoform |
P21281 | 201 | 235 | 1 | 511 | Chain | ID=PRO_0000144626;Note=V-type proton ATPase subunit B%2C brain isoform |
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3'-UTR located exon skipping events that lost miRNA binding sites in ATP6V1B2 |
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 ATP6V1B2 |
- 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 ATP6V1B2 |
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 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ATP6V1B2 |
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 ATP6V1B2 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for ATP6V1B2 |
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 ATP6V1B2 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |