TissGeneSummary for ATP6V0A4 |
Gene summary |
Basic gene information | Gene symbol | ATP6V0A4 |
Gene name | ATPase, H+ transporting, lysosomal V0 subunit a4 | |
Synonyms | A4|ATP6N1B|ATP6N2|RDRTA2|RTA1C|RTADR|STV1|VPH1|VPP2 | |
Cytomap | UCSC genome browser: 7q34 | |
Type of gene | protein-coding | |
RefGenes | NM_020632.2, NM_130840.2,NM_130841.2, | |
Description | ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1BATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 2 (38kD)H(+)-transporting two-sector ATPase, noncatalytic accessory pro | |
Modification date | 20141207 | |
dbXrefs | MIM : 605239 | |
HGNC : HGNC | ||
Ensembl : ENSG00000105929 | ||
HPRD : 05576 | ||
Vega : OTTHUMG00000157122 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_ATP6V0A4 | |
BioGPS: 50617 | ||
Pathway | NCI Pathway Interaction Database: ATP6V0A4 | |
KEGG: ATP6V0A4 | ||
REACTOME: ATP6V0A4 | ||
Pathway Commons: ATP6V0A4 | ||
Context | iHOP: ATP6V0A4 | |
ligand binding site mutation search in PubMed: ATP6V0A4 | ||
UCL Cancer Institute: ATP6V0A4 | ||
Assigned class in TissGDB* | C | |
Included tissue-specific gene expression resources | ||
Specific-tissues in normal samples (assigned by TissGDB using HPA, TiGER, and GTEx) | Kidney | |
Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | KIRC,KIRP,KICH | |
Reference showing the relevant tissue of ATP6V0A4 | ||
Description by TissGene annotations | Cancer gene |
* Class A consists of genes with literature evidence and is part of the cTissGenes. Class B consists of only cTissGenes without additional evidence. The remaining genes belong to Class C. |
Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
GO ID | GO term | PubMed ID |
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TissGeneExp for ATP6V0A4 |
Gene expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) |
Gene isoform expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA pan-cancer tcga_rsem_isoform_tpm, version 2016-09-01) |
Gene expressions across normal tissues of GTEx data (GTEx GTEx_Analysis_v6_RNA-seq_RNA-SeQCv1.1.8_gene_rpkm.gct) - Here, we shows the matched tissue types only among our 28 cancer types. |
Different expressions across 14 cancer types with more than 10 samples between matched tumors and normals (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) |
- Significantly differentially expressed cancer types and information. (|Fold change|>1 and FDR<0.05) |
Cancer type | Mean(exp) in tumor | Mean(exp) in matched normal | Log2FC | P-val. | FDR |
HNSC | 1.007161063 | 5.902281993 | -4.89512093 | 4.35E-17 | 7.53E-15 |
PRAD | -0.868694885 | 1.609987807 | -2.478682692 | 2.42E-09 | 3.41E-08 |
KIRP | 1.654687807 | 9.171200307 | -7.5165125 | 1.54E-12 | 2.38E-11 |
KIRC | -0.260367748 | 8.987139196 | -9.247506944 | 4.04E-42 | 1.93E-40 |
KICH | 11.04257781 | 9.001169807 | 2.041408 | 9.44E-05 | 0.000247688 |
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TissGene-miRNA for ATP6V0A4 |
Significantly anti-correlated miRNAs of TissGene across 28 cancer types (Gene-miRNA relations from TargetScanHuman Relsease 7.1, Conserved_Site_Context_Scores.txt.zip, 06.01.2016) (TCGA IlluminaHiSeq_miRNASeq, log2(RPM+1) data, version 2016-11-21) (TCGA IlluminaHiSeq_RNASeqV2, log2(normalized_count+1) data, version 2016-08-16) (Spearman’s Rank Correlation (p-value<0.05 and coefficient<-0.25)) |
Cancer type | miRNA id | miRNA accession | P-val. | Coeff. | # samples |
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TissGeneMut for ATP6V0A4 |
TissGeneSNV for ATP6V0A4 |
nsSNV counts per each loci. Different colors of circles represent different cancer types. Circle size denotes number of samples. (TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25) * Click on the image to enlarge it in a new window. |
Somatic nucleotide variants of TissGene across 28 cancer types (X-axis: cancer type and Y-axis: % of mutated samples) The numbers in parentheses are numbers of samples with mutation (nsSNVs). (TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25) |
- nsSNVs sorted by frequency. |
AAchange | Cancer type | # samples |
p.V605I | UCEC | 2 |
p.G195E | SKCM | 2 |
p.L65I | LUAD | 1 |
p.G820R | BLCA | 1 |
p.W526* | SKCM | 1 |
p.V263I | GBM | 1 |
p.P395L | SKCM | 1 |
p.S669F | SKCM | 1 |
p.L584M | STAD | 1 |
p.R191Q | UCEC | 1 |
p.N815S | SKCM | 1 |
p.A289S | HNSC | 1 |
p.G410V | HNSC | 1 |
p.E278D | KICH | 1 |
p.S348F | BLCA | 1 |
p.A374V | SKCM | 1 |
p.G168E | SKCM | 1 |
p.T213_splice | UCEC | 1 |
p.L96M | STAD | 1 |
p.R6* | SKCM | 1 |
p.R6Q | READ | 1 |
p.L117F | PAAD | 1 |
p.M302I | SKCM | 1 |
p.K336N | BLCA | 1 |
p.S84N | SKCM | 1 |
p.R191Q | COAD | 1 |
p.T140M | BLCA | 1 |
p.V603I | STAD | 1 |
p.P248S | SKCM | 1 |
p.A630T | DLBC | 1 |
p.G771V | LUAD | 1 |
p.L767V | BRCA | 1 |
p.G555S | SKCM | 1 |
p.Q672X | COAD | 1 |
p.D506Y | READ | 1 |
p.T213M | UCEC | 1 |
p.D269Y | UCEC | 1 |
p.A116T | STAD | 1 |
p.I460M | HNSC | 1 |
p.G463S | SKCM | 1 |
p.R667Q | STAD | 1 |
p.E62D | STAD | 1 |
p.E8K | SKCM | 1 |
p.S688I | LUAD | 1 |
p.S829F | SKCM | 1 |
p.P578T | COAD | 1 |
p.D210N | SKCM | 1 |
p.A422T | UCEC | 1 |
p.K219N | UCEC | 1 |
p.G777R | UCEC | 1 |
p.E141K | READ | 1 |
p.H722P | SKCM | 1 |
p.L17I | READ | 1 |
p.A805T | LUSC | 1 |
p.R743Q | UCEC | 1 |
p.Q670H | ACC | 1 |
p.W442* | SKCM | 1 |
p.L117F | LUSC | 1 |
p.G711E | BLCA | 1 |
p.R663G | COAD | 1 |
p.D331N | BLCA | 1 |
p.F582C | COAD | 1 |
p.A362S | PAAD | 1 |
p.P652Q | ESCA | 1 |
p.I235F | OV | 1 |
p.N467S | LUSC | 1 |
p.A791P | UCS | 1 |
p.N493Y | SKCM | 1 |
p.A805V | LGG | 1 |
p.Q282* | STAD | 1 |
p.N629S | KIRC | 1 |
p.R6* | CESC | 1 |
p.G705E | SKCM | 1 |
p.Q282X | STAD | 1 |
p.C249* | LUAD | 1 |
p.L260S | COAD | 1 |
p.T213M | STAD | 1 |
p.M580I | SKCM | 1 |
p.Y396H | STAD | 1 |
p.T738K | LIHC | 1 |
p.Q233E | STAD | 1 |
p.G798D | HNSC | 1 |
p.K824N | UCEC | 1 |
p.W442X | SKCM | 1 |
p.S184F | SKCM | 1 |
p.I617M | BLCA | 1 |
p.R57W | LUAD | 1 |
p.R568G | LUAD | 1 |
p.E390K | SKCM | 1 |
p.D438E | GBM | 1 |
p.E82K | SKCM | 1 |
p.L794M | KIRP | 1 |
p.R743W | READ | 1 |
p.Y461H | READ | 1 |
p.T397P | SKCM | 1 |
p.R667W | LUAD | 1 |
p.E31G | STAD | 1 |
p.H280D | BRCA | 1 |
p.G515E | SKCM | 1 |
p.E92K | SKCM | 1 |
p.P631T | CESC | 1 |
p.R667Q | SKCM | 1 |
p.R194Q | SKCM | 1 |
p.A609T | ESCA | 1 |
p.L793V | LIHC | 1 |
p.H666Y | READ | 1 |
p.E123K | UCEC | 1 |
p.R694H | SARC | 1 |
p.S544L | SKCM | 1 |
p.R431H | SARC | 1 |
p.H809D | LIHC | 1 |
p.V719G | COAD | 1 |
p.E278V | KICH | 1 |
p.T245N | GBM | 1 |
p.E324K | SKCM | 1 |
p.Y818C | HNSC | 1 |
p.W424* | LUAD | 1 |
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TissGeneCNV for ATP6V0A4 |
Copy number variations of TissGene across 28 cancer types (X-axis: cancer type and Y-axis: % of CNV samples) (TCGA Gistic2_CopyNumber_Gistic2_all_data_by_genes, Gistic2 copy number data, version 2016-08-16) |
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TissGeneFusions for ATP6V0A4 |
Fusion genes including TissGene (ChimerDB 3.0, 2016-12-01 and TCGA fusion Portal 2015-12-01) |
Database | Src | Cancer type | Sample | Fusion gene | ORF | 5'-gene BP | 3'-gene BP |
Chimerdb3.0 | ChiTaRs | NA | BF823719 | CTSA-ATP6V0A4 | chr20:44527103 | chr7:138406708 |
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TissGeneNet for ATP6V0A4 |
Co-expressed gene networks based on protein-protein interaction data (CePIN) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (PINA2 ppi data) |
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TissGeneProg for ATP6V0A4 |
Kaplan-Meier plots with logrank tests of overall survival (OS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image to enlarge it in a new window. |
Kaplan-Meier plots with logrank test of relapse free survival (RFS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
Forest plot of Cox proportional hazard ratio (HR) and 95% CI of overall survival (OS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
Forest plot of Cox proportional hazard ratio (HR) and 95% CI of relapse free survival (RFS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
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TissGeneClin for ATP6V0A4 |
TissGeneDrug for ATP6V0A4 |
Drug information targeting TissGene (DrugBank Version 5.0.6, 2017-04-01) |
DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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TissGeneDisease for ATP6V0A4 |
Disease information associated with TissGene (DisGeNet, 2016-06-01) |
Disease ID | Disease name | # pubmeds | Source |
umls:C1704380 | Distal Renal Tubular Acidosis | 14 | BeFree |
umls:C0018784 | Sensorineural Hearing Loss (disorder) | 9 | BeFree |
umls:C1864498 | RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE | 7 | BeFree,CLINVAR,CTD_human,MGD,UNIPROT |
umls:C0155552 | Hearing Loss, Mixed Conductive-Sensorineural | 2 | BeFree |
umls:C0002895 | Anemia, Sickle Cell | 1 | GAD |
umls:C0010414 | Infection by Cryptococcus neoformans | 1 | BeFree |
umls:C0014038 | Encephalitis | 1 | BeFree |
umls:C0022681 | Medullary sponge kidney | 1 | BeFree |
umls:C0026946 | Mycoses | 1 | BeFree |
umls:C0040336 | Tobacco Use Disorder | 1 | GAD |
umls:C0243026 | Sepsis | 1 | BeFree |
umls:C0279702 | Conventional (Clear Cell) Renal Cell Carcinoma | 1 | BeFree |
umls:C0334583 | Pilocytic Astrocytoma | 1 | BeFree |
umls:C1863752 | Enlarged Vestibular Aqueduct | 1 | BeFree |
umls:C1864499 | Renal Tubular Acidosis, Distal, Autosomal Recessive, with Late-Onset Sensorineural Hearing Loss | 0 | CLINVAR |