TissGeneSummary for GJB3 |
Gene summary |
Basic gene information | Gene symbol | GJB3 |
Gene name | gap junction protein, beta 3, 31kDa | |
Synonyms | CX31|DFNA2|DFNA2B|EKV | |
Cytomap | UCSC genome browser: 1p34 | |
Type of gene | protein-coding | |
RefGenes | NM_001005752.1, NM_024009.2, | |
Description | connexin 31connexin-31gap junction beta-3 protein | |
Modification date | 20141207 | |
dbXrefs | MIM : 603324 | |
HGNC : HGNC | ||
Ensembl : ENSG00000188910 | ||
HPRD : 04505 | ||
Vega : OTTHUMG00000004051 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_GJB3 | |
BioGPS: 2707 | ||
Pathway | NCI Pathway Interaction Database: GJB3 | |
KEGG: GJB3 | ||
REACTOME: GJB3 | ||
Pathway Commons: GJB3 | ||
Context | iHOP: GJB3 | |
ligand binding site mutation search in PubMed: GJB3 | ||
UCL Cancer Institute: GJB3 | ||
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) | SkinStomach | |
Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | SKCMSTAD | |
Reference showing the relevant tissue of GJB3 | ||
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 GJB3 |
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 |
KICH | -3.422638062 | -0.004066062 | -3.418572 | 5.92E-11 | 4.80E-10 |
KIRC | -2.777897395 | -1.128602951 | -1.649294444 | 1.71E-07 | 4.68E-07 |
LIHC | -1.735252062 | 0.299761938 | -2.035014 | 9.27E-06 | 3.94E-05 |
LUSC | 4.836078095 | -0.139941513 | 4.976019608 | 9.02E-30 | 3.83E-28 |
PRAD | 0.541176323 | 2.085378246 | -1.544201923 | 4.06E-07 | 3.16E-06 |
LUAD | 2.081898007 | -0.135405441 | 2.217303448 | 6.03E-08 | 2.44E-07 |
THCA | 3.162991023 | -1.244712367 | 4.40770339 | 9.31E-26 | 1.72E-23 |
HNSC | 6.898658031 | 5.747944078 | 1.150713953 | 0.0021 | 0.006454918 |
STAD | 4.419470313 | 1.973792188 | 2.445678125 | 0.000462 | 0.0028545 |
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TissGene-miRNA for GJB3 |
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 GJB3 |
TissGeneSNV for GJB3 |
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.R160H | GBM | 2 |
p.W24X | KIRC | 1 |
p.A8D | KICH | 1 |
p.T188I | BLCA | 1 |
p.K122R | LUAD | 1 |
p.W24* | KIRC | 1 |
p.P159L | BRCA | 1 |
p.R160C | COAD | 1 |
p.V43M | HNSC | 1 |
p.R42H | UCEC | 1 |
p.R42C | COAD | 1 |
p.P159L | SKCM | 1 |
p.I178N | SKCM | 1 |
p.R98H | KIRP | 1 |
p.S195Y | OV | 1 |
p.R104W | UCEC | 1 |
p.G193S | SKCM | 1 |
p.A196V | SKCM | 1 |
p.I186V | STAD | 1 |
p.R224* | BLCA | 1 |
p.S230P | SKCM | 1 |
p.A233T | BRCA | 1 |
p.R216* | LAML | 1 |
p.W128C | LUAD | 1 |
p.V30I | COAD | 1 |
p.R42C | UCEC | 1 |
p.F143L | LAML | 1 |
p.K115E | STAD | 1 |
p.A233T | KIRP | 1 |
p.M158V | UCS | 1 |
p.E41K | BLCA | 1 |
p.A262V | COAD | 1 |
p.R160H | UCEC | 1 |
p.S72F | SKCM | 1 |
p.F190I | STAD | 1 |
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TissGeneCNV for GJB3 |
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 GJB3 |
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 GJB3 |
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 GJB3 |
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 GJB3 |
TissGeneDrug for GJB3 |
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 GJB3 |
Disease information associated with TissGene (DisGeNet, 2016-06-01) |
Disease ID | Disease name | # pubmeds | Source |
umls:C0155552 | Hearing Loss, Mixed Conductive-Sensorineural | 21 | BeFree |
umls:C0265961 | Erythrokeratodermia variabilis | 18 | BeFree,CLINVAR,CTD_human,MGD,ORPHANET,UNIPROT |
umls:C0037274 | Dermatologic disorders | 13 | BeFree,CTD_human,LHGDN |
umls:C0011053 | Deafness | 11 | CTD_human,GAD |
umls:C0018772 | Hearing Loss, Partial | 10 | GAD |
umls:C1384666 | hearing impairment | 9 | GAD,LHGDN |
umls:C3711374 | Nonsyndromic Deafness | 9 | BeFree |
umls:C0432330 | Erythrokeratoderma | 8 | BeFree |
umls:C3887873 | Hearing Loss | 8 | GAD |
umls:C0037277 | Skin Diseases, Genetic | 7 | BeFree |
umls:C0018784 | Sensorineural Hearing Loss (disorder) | 6 | BeFree,CTD_human |
umls:C0031117 | Peripheral Neuropathy | 4 | BeFree,CTD_human |
umls:C0870082 | Hyperkeratosis | 4 | BeFree |
umls:C0041834 | Erythema | 3 | BeFree |
umls:C0395971 | Dominant sensorineural hearing loss | 3 | BeFree |
umls:C0442874 | Neuropathy | 3 | BeFree |
umls:C0011065 | Cessation of life | 1 | LHGDN |
umls:C0018780 | Hearing Loss, High-Frequency | 1 | BeFree |
umls:C0018781 | Noise-induced hearing loss | 1 | GAD |
umls:C0022593 | Keratosis | 1 | BeFree |
umls:C0022596 | Palmoplantar Keratosis | 1 | BeFree |
umls:C0033074 | Presbycusis | 1 | GAD |
umls:C0079153 | Hyperkeratosis, Epidermolytic | 1 | CTD_human |
umls:C0475811 | Disorder of keratinization | 1 | BeFree |
umls:C0581883 | Complete Hearing Loss | 1 | GAD |
umls:C2675236 | Deafness, Autosomal Dominant 2B | 1 | CLINVAR,CTD_human,UNIPROT |
umls:C1846647 | DEAFNESS, AUTOSOMAL RECESSIVE (disorder) | 0 | CLINVAR |
umls:C2673759 | DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) | 0 | CTD_human |
umls:C2673761 | DEAFNESS, DIGENIC, GJB2/GJB3 (disorder) | 0 | CLINVAR |
umls:C2677637 | Deafness, Autosomal Dominant 2A | 0 | CTD_human |