TissGeneSummary for PDE6A |
Gene summary |
Basic gene information | Gene symbol | PDE6A |
Gene name | phosphodiesterase 6A, cGMP-specific, rod, alpha | |
Synonyms | CGPR-A|PDEA|RP43 | |
Cytomap | UCSC genome browser: 5q31.2-q34 | |
Type of gene | protein-coding | |
RefGenes | NM_000440.2, | |
Description | GMP-PDE alphaPDE V-B1cGMP phosphodiesterase alpha subunitrod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpharod photoreceptor cGMP phosphodiesterase alpha subunit | |
Modification date | 20141219 | |
dbXrefs | MIM : 180071 | |
HGNC : HGNC | ||
Ensembl : ENSG00000132915 | ||
HPRD : 01570 | ||
Vega : OTTHUMG00000130047 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_PDE6A | |
BioGPS: 5145 | ||
Pathway | NCI Pathway Interaction Database: PDE6A | |
KEGG: PDE6A | ||
REACTOME: PDE6A | ||
Pathway Commons: PDE6A | ||
Context | iHOP: PDE6A | |
ligand binding site mutation search in PubMed: PDE6A | ||
UCL Cancer Institute: PDE6A | ||
Assigned class in TissGDB* | C | |
Included tissue-specific gene expression resources | TiGER,GTEx | |
Specific-tissues in normal samples (assigned by TissGDB using HPA, TiGER, and GTEx) | TestisEye | |
Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | TGCTUVM | |
Reference showing the relevant tissue of PDE6A | ||
Description by TissGene annotations |
* 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 PDE6A |
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 |
LUAD | -0.539938281 | 0.90379965 | -1.443737931 | 1.87E-09 | 9.58E-09 |
COAD | 0.253064239 | 4.505610393 | -4.252546154 | 1.19E-14 | 5.67E-13 |
LUSC | -0.544875806 | 0.973206547 | -1.518082353 | 1.19E-10 | 4.44E-10 |
HNSC | -1.048872523 | 2.250141431 | -3.299013953 | 1.04E-16 | 1.56E-14 |
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TissGene-miRNA for PDE6A |
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 PDE6A |
TissGeneSNV for PDE6A |
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.P434H | LUAD | 2 |
p.E312K | SKCM | 2 |
p.E709K | SKCM | 2 |
p.R237C | UCEC | 2 |
p.E489K | BLCA | 2 |
p.A739D | LIHC | 1 |
p.W743* | SARC | 1 |
p.E486G | LIHC | 1 |
p.F62C | STAD | 1 |
p.A194T | STAD | 1 |
p.R93H | GBM | 1 |
p.A541D | LUAD | 1 |
p.V115I | TGCT | 1 |
p.E502K | UCEC | 1 |
p.S856C | LUSC | 1 |
p.R750C | STAD | 1 |
p.K726T | UCEC | 1 |
p.F742L | UCEC | 1 |
p.V784I | SKCM | 1 |
p.P52L | LIHC | 1 |
p.T585M | GBM | 1 |
p.G428C | LIHC | 1 |
p.S856Y | LUAD | 1 |
p.G843E | UCEC | 1 |
p.M612I | BRCA | 1 |
p.K317M | UCEC | 1 |
p.G844X | KIRC | 1 |
p.G775C | LUSC | 1 |
p.L621H | COAD | 1 |
p.D199N | SKCM | 1 |
p.R472I | LUSC | 1 |
p.S614C | BLCA | 1 |
p.F134L | SKCM | 1 |
p.V133I | KIRC | 1 |
p.L772P | ESCA | 1 |
p.D762N | SKCM | 1 |
p.D164G | LIHC | 1 |
p.A589T | HNSC | 1 |
p.N651S | DLBC | 1 |
p.K555E | ESCA | 1 |
p.L748M | STAD | 1 |
p.E486A | SKCM | 1 |
p.P846L | SKCM | 1 |
p.S276F | SKCM | 1 |
p.E502K | SKCM | 1 |
p.A190T | SKCM | 1 |
p.V44M | LUSC | 1 |
p.D686N | SKCM | 1 |
p.E131V | LIHC | 1 |
p.K326E | LIHC | 1 |
p.W292R | ESCA | 1 |
p.K786E | OV | 1 |
p.G844E | SKCM | 1 |
p.M127V | COAD | 1 |
p.E656G | LUAD | 1 |
p.H631L | SKCM | 1 |
p.D416N | SKCM | 1 |
p.R257Q | BLCA | 1 |
p.A91T | SKCM | 1 |
p.G578E | SKCM | 1 |
p.G200V | LUAD | 1 |
p.R707W | STAD | 1 |
p.R237C | LGG | 1 |
p.L772H | LUAD | 1 |
p.W728* | SARC | 1 |
p.P305S | SKCM | 1 |
p.G578V | HNSC | 1 |
p.S643R | LUAD | 1 |
p.D118N | SKCM | 1 |
p.E464K | HNSC | 1 |
p.E489D | CESC | 1 |
p.L427M | UCEC | 1 |
p.D35N | SKCM | 1 |
p.L355M | LUAD | 1 |
p.M440I | UCEC | 1 |
p.E327D | STAD | 1 |
p.V133I | ESCA | 1 |
p.K223E | READ | 1 |
p.R257Q | UCEC | 1 |
p.E794K | SKCM | 1 |
p.T751K | LUAD | 1 |
p.E628K | SKCM | 1 |
p.Q731X | COAD | 1 |
p.N216K | LUAD | 1 |
p.D497Y | LUAD | 1 |
p.R629I | UCS | 1 |
p.Q654* | LUAD | 1 |
p.G844* | KIRC | 1 |
p.P52L | STAD | 1 |
p.H655Y | COAD | 1 |
p.H507Y | SKCM | 1 |
p.R93C | LGG | 1 |
p.D187N | SKCM | 1 |
p.E3* | OV | 1 |
p.T253M | SKCM | 1 |
p.E256K | COAD | 1 |
p.M381L | KIRP | 1 |
p.T170R | LUAD | 1 |
p.V711I | STAD | 1 |
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TissGeneCNV for PDE6A |
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 PDE6A |
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 | BQ638079 | PDE6A-PDE6A | chr5:149285009 | chr5:149285025 | |
Chimerdb3.0 | TopHat-Fusion | ACC | TCGA-OR-A5LO-01A | PDE6A-SLC26A2 | In-Frame | chr5:149294494 | chr5:149357913 |
Chimerdb3.0 | TopHat-Fusion | BRCA | TCGA-A7-A26E-01A | MFF-PDE6A | Out-of-Frame | chr2:228212099 | chr5:149311876 |
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TissGeneNet for PDE6A |
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 PDE6A |
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 PDE6A |
TissGeneDrug for PDE6A |
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 PDE6A |
Disease information associated with TissGene (DisGeNet, 2016-06-01) |
Disease ID | Disease name | # pubmeds | Source |
umls:C0035334 | Retinitis Pigmentosa | 6 | BeFree,CTD_human,GAD,MGD,ORPHANET |
umls:C3151139 | RETINITIS PIGMENTOSA 43 | 2 | CLINVAR,UNIPROT |
umls:C0035309 | Retinal Diseases | 1 | GAD |