TissGeneSummary for CNGB3 |
Gene summary |
Basic gene information | Gene symbol | CNGB3 |
Gene name | cyclic nucleotide gated channel beta 3 | |
Synonyms | ACHM1 | |
Cytomap | UCSC genome browser: 8q21.3 | |
Type of gene | protein-coding | |
RefGenes | NM_019098.4, | |
Description | CNG channel beta-3cone photoreceptor cGMP-gated cation channel beta-subunitcyclic nucleotide-gated cation channel beta-3cyclic nucleotide-gated cation channel modulatory subunit | |
Modification date | 20141219 | |
dbXrefs | MIM : 605080 | |
HGNC : HGNC | ||
Ensembl : ENSG00000170289 | ||
HPRD : 05468 | ||
Vega : OTTHUMG00000163738 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_CNGB3 | |
BioGPS: 54714 | ||
Pathway | NCI Pathway Interaction Database: CNGB3 | |
KEGG: CNGB3 | ||
REACTOME: CNGB3 | ||
Pathway Commons: CNGB3 | ||
Context | iHOP: CNGB3 | |
ligand binding site mutation search in PubMed: CNGB3 | ||
UCL Cancer Institute: CNGB3 | ||
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 CNGB3 | ||
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 | GO:0006812 | cation transport | 24164424 | GO:0006812 | cation transport | 24164424 |
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TissGeneExp for CNGB3 |
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 |
LUSC | 0.887338659 | -1.718592714 | 2.605931373 | 5.11E-15 | 3.15E-14 |
HNSC | 0.954081978 | -1.51589244 | 2.469974419 | 1.08E-15 | 1.28E-13 |
ESCA | 0.779139906 | -1.260387366 | 2.039527273 | 0.00186 | 0.022003404 |
STAD | -0.39939731 | -1.60095356 | 1.20155625 | 0.0012 | 0.006119728 |
BLCA | 1.558746605 | -0.715827079 | 2.274573684 | 3.64E-05 | 0.00050735 |
KICH | 0.714542815 | -1.579293185 | 2.293836 | 3.60E-05 | 0.000102512 |
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TissGene-miRNA for CNGB3 |
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 |
UCS | hsa-miR-17-5p | MIMAT0000070 | 0.043 | -0.27 | 56 |
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TissGeneMut for CNGB3 |
TissGeneSNV for CNGB3 |
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.S78F | SKCM | 6 |
p.R403Q | SKCM | 3 |
p.E103K | SKCM | 3 |
p.S4L | SKCM | 2 |
p.R604Q | SKCM | 2 |
p.R478X | COAD | 2 |
p.E413K | SKCM | 2 |
p.Y213S | BRCA | 1 |
p.A686T | SKCM | 1 |
p.P207Q | LUSC | 1 |
p.W373C | LGG | 1 |
p.Y314H | SKCM | 1 |
p.D129N | COAD | 1 |
p.T382N | LUAD | 1 |
p.A120V | THYM | 1 |
p.E19V | LIHC | 1 |
p.E378K | SKCM | 1 |
p.T383N | LUSC | 1 |
p.R403L | LUAD | 1 |
p.G713R | HNSC | 1 |
p.A610V | LUSC | 1 |
p.W189* | SKCM | 1 |
p.R403X | SKCM | 1 |
p.C313* | LUSC | 1 |
p.R478* | STAD | 1 |
p.S333T | LUSC | 1 |
p.R478Q | SKCM | 1 |
p.R604Q | UCEC | 1 |
p.E729Q | BLCA | 1 |
p.I124K | SKCM | 1 |
p.R327M | UCEC | 1 |
p.G410D | LUAD | 1 |
p.E484K | ESCA | 1 |
p.Q70H | BRCA | 1 |
p.G153V | LUSC | 1 |
p.S113I | LUAD | 1 |
p.P172T | LUAD | 1 |
p.S52T | STAD | 1 |
p.P171A | STAD | 1 |
p.P673L | SKCM | 1 |
p.D529H | HNSC | 1 |
p.D529N | COAD | 1 |
p.K500E | STAD | 1 |
p.R203Q | DLBC | 1 |
p.S542F | SKCM | 1 |
p.L502I | ESCA | 1 |
p.R216* | STAD | 1 |
p.Q301* | SKCM | 1 |
p.Q245X | SKCM | 1 |
p.L269Q | SKCM | 1 |
p.T357A | STAD | 1 |
p.E697D | STAD | 1 |
p.A160S | BLCA | 1 |
p.A511S | DLBC | 1 |
p.E670Q | HNSC | 1 |
p.T800I | HNSC | 1 |
p.R140C | COAD | 1 |
p.D257N | SKCM | 1 |
p.E159K | COAD | 1 |
p.G734V | OV | 1 |
p.K669N | STAD | 1 |
p.L584V | HNSC | 1 |
p.V798D | COAD | 1 |
p.L572I | UCEC | 1 |
p.E49K | SKCM | 1 |
p.Q89X | SKCM | 1 |
p.R355X | READ | 1 |
p.R355Q | SKCM | 1 |
p.G280E | SKCM | 1 |
p.E707K | BRCA | 1 |
p.R140C | LUSC | 1 |
p.R355Q | STAD | 1 |
p.G682D | LGG | 1 |
p.T505R | LUSC | 1 |
p.R203* | UCS | 1 |
p.F235L | ESCA | 1 |
p.Q89* | SKCM | 1 |
p.E175* | SKCM | 1 |
p.T779A | UCEC | 1 |
p.V421D | SKCM | 1 |
p.G409S | SKCM | 1 |
p.T296P | LUAD | 1 |
p.Y266C | SARC | 1 |
p.V479A | STAD | 1 |
p.Q570H | ESCA | 1 |
p.A305T | OV | 1 |
p.Q141K | LUSC | 1 |
p.Y349F | LUAD | 1 |
p.G389R | SKCM | 1 |
p.I366S | UCS | 1 |
p.E738K | SKCM | 1 |
p.L493Q | LUAD | 1 |
p.P237T | LUSC | 1 |
p.S588L | BLCA | 1 |
p.D718G | STAD | 1 |
p.P207S | SKCM | 1 |
p.H32N | LUAD | 1 |
p.E710* | UCEC | 1 |
p.I262M | BLCA | 1 |
p.L417V | HNSC | 1 |
p.L265R | SKCM | 1 |
p.S156Y | LUAD | 1 |
p.D661Y | UCEC | 1 |
p.P746Q | LUSC | 1 |
p.P632T | ESCA | 1 |
p.R324S | LUAD | 1 |
p.E717K | CESC | 1 |
p.E175X | SKCM | 1 |
p.P86T | LUAD | 1 |
p.C234F | LUAD | 1 |
p.Y394S | LIHC | 1 |
p.R216* | SKCM | 1 |
p.Y534D | COAD | 1 |
p.T168M | THYM | 1 |
p.K292X | READ | 1 |
p.I69M | BLCA | 1 |
p.Q440R | OV | 1 |
p.R539K | UCEC | 1 |
p.R480Q | DLBC | 1 |
p.S34T | BLCA | 1 |
p.F334L | STAD | 1 |
p.F337L | LGG | 1 |
p.E671D | UCEC | 1 |
p.G591R | SKCM | 1 |
p.E159K | SKCM | 1 |
p.W189X | SKCM | 1 |
p.E159D | STAD | 1 |
p.R239C | STAD | 1 |
p.I637T | BLCA | 1 |
p.E560K | SKCM | 1 |
p.F334V | READ | 1 |
p.L417V | UCEC | 1 |
p.T296I | PAAD | 1 |
p.G107R | READ | 1 |
p.H293Q | LUAD | 1 |
p.S37Y | ESCA | 1 |
p.G682S | HNSC | 1 |
p.D443H | UCEC | 1 |
p.T55A | ESCA | 1 |
p.E729Q | LUAD | 1 |
p.E704D | UCEC | 1 |
p.P668Q | CESC | 1 |
p.L662H | KIRC | 1 |
p.L197X | SKCM | 1 |
p.R403Q | HNSC | 1 |
p.E109A | SKCM | 1 |
p.T58P | STAD | 1 |
p.K166N | LUAD | 1 |
p.E711K | SKCM | 1 |
p.E731* | UCS | 1 |
p.D523N | BLCA | 1 |
p.R355* | SKCM | 1 |
p.F434L | UCEC | 1 |
p.E390K | SKCM | 1 |
p.P59S | UCEC | 1 |
p.D576H | LUSC | 1 |
p.E592K | SARC | 1 |
p.F427V | PRAD | 1 |
p.T583I | UCEC | 1 |
p.E670G | COAD | 1 |
p.P237Q | LUAD | 1 |
p.P309S | UCEC | 1 |
p.E289K | SKCM | 1 |
p.Q43_splice | LUSC | 1 |
p.A457T | HNSC | 1 |
p.A448D | ESCA | 1 |
p.T298I | SKCM | 1 |
p.P94S | SKCM | 1 |
p.G153E | SKCM | 1 |
p.G280R | LUAD | 1 |
p.L584M | LIHC | 1 |
p.A247T | PCPG | 1 |
p.E159D | ESCA | 1 |
p.S156Y | HNSC | 1 |
p.M532I | SKCM | 1 |
p.P86S | UCEC | 1 |
p.P243S | SKCM | 1 |
p.S113N | LUAD | 1 |
p.L197* | SKCM | 1 |
p.R478X | STAD | 1 |
p.R140C | BRCA | 1 |
p.M104I | SKCM | 1 |
p.A457T | ESCA | 1 |
p.K742N | KIRC | 1 |
p.S34R | ESCA | 1 |
p.Q245* | SKCM | 1 |
p.P321S | SKCM | 1 |
p.Q101H | STAD | 1 |
p.K108R | LIHC | 1 |
p.E715K | SKCM | 1 |
p.E731X | UCS | 1 |
p.K728R | SKCM | 1 |
p.F334C | STAD | 1 |
p.T55S | LUSC | 1 |
p.R403* | SKCM | 1 |
p.I420T | HNSC | 1 |
p.V475E | LUAD | 1 |
p.H768Y | LUAD | 1 |
p.R355* | UCEC | 1 |
p.I637M | LUAD | 1 |
p.G599A | STAD | 1 |
p.R403P | COAD | 1 |
p.S333L | SKCM | 1 |
p.R140H | ACC | 1 |
p.L150F | LUAD | 1 |
p.L572R | STAD | 1 |
p.R324T | HNSC | 1 |
p.R203X | UCS | 1 |
p.E626K | READ | 1 |
p.P167H | LUAD | 1 |
p.L425F | LUAD | 1 |
p.E796K | SKCM | 1 |
p.S78F | LUSC | 1 |
p.E736Q | LUSC | 1 |
p.P658T | LUSC | 1 |
p.D87H | LUAD | 1 |
p.P111S | SKCM | 1 |
p.Q22K | LUSC | 1 |
p.G110R | LUSC | 1 |
p.Q245K | LUAD | 1 |
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TissGeneCNV for CNGB3 |
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 CNGB3 |
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 |
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TissGeneNet for CNGB3 |
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 CNGB3 |
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 CNGB3 |
TissGeneDrug for CNGB3 |
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 CNGB3 |
Disease information associated with TissGene (DisGeNet, 2016-06-01) |
Disease ID | Disease name | # pubmeds | Source |
umls:C0152200 | Achromatopsia | 23 | BeFree,GAD,ORPHANET |
umls:C1849792 | Achromatopsia 3 | 8 | BeFree,CLINVAR,CTD_human,MGD,UNIPROT |
umls:C0339530 | Progressive cone-rod dystrophy | 4 | BeFree |
umls:C0009398 | Color vision defect | 3 | GAD,LHGDN |
umls:C0024437 | Macular degeneration | 1 | BeFree |
umls:C0035304 | Retinal Degeneration | 1 | GAD |
umls:C0035309 | Retinal Diseases | 1 | GAD |
umls:C0040336 | Tobacco Use Disorder | 1 | GAD |
umls:C0242383 | Age related macular degeneration | 1 | BeFree,LHGDN |
umls:C1855465 | STARGARDT DISEASE 1 (disorder) | 1 | BeFree,CLINVAR,CTD_human,UNIPROT |
umls:C0271092 | Progressive cone dystrophy (without rod involvement) | 0 | ORPHANET |
umls:C0271093 | Stargardt's disease | 0 | ORPHANET |