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| TissGeneSummary for GJB4 |
 Gene summary |
| Basic gene information | Gene symbol | GJB4 |
| Gene name | gap junction protein, beta 4, 30.3kDa | |
| Synonyms | CX30.3|EKV | |
| Cytomap | UCSC genome browser: 1p34.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_153212.2, | |
| Description | connexin 30.3connexin-30.3gap junction beta-4 protein | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 605425 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000189433 | ||
| HPRD : 05666 | ||
| Vega : OTTHUMG00000004052 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_GJB4 | |
| BioGPS: 127534 | ||
| Pathway | NCI Pathway Interaction Database: GJB4 | |
| KEGG: GJB4 | ||
| REACTOME: GJB4 | ||
| Pathway Commons: GJB4 | ||
| Context | iHOP: GJB4 | |
| ligand binding site mutation search in PubMed: GJB4 | ||
| UCL Cancer Institute: GJB4 | ||
| Assigned class in TissGDB* | C | |
| Included tissue-specific gene expression resources | HPA,GTEx | |
| Specific-tissues in normal samples (assigned by TissGDB using HPA, TiGER, and GTEx) | Skin | |
| Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | SKCM | |
| Reference showing the relevant tissue of GJB4 | ||
| 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 GJB4 |
| 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) |
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| 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) |
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| 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. |
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| 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) |
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| - 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 |
| PRAD | 0.602456829 | 2.58745106 | -1.984994231 | 6.04E-09 | 7.82E-08 |
| COAD | 2.98562606 | -0.126862402 | 3.112488462 | 9.08E-08 | 6.42E-07 |
| LUSC | 3.565942048 | -0.816363835 | 4.382305882 | 4.59E-20 | 5.56E-19 |
| THCA | 1.263437794 | -1.477267291 | 2.740705085 | 3.82E-14 | 4.17E-13 |
| KICH | -2.453821325 | -0.169837325 | -2.283984 | 1.28E-05 | 3.96E-05 |
| ESCA | 3.854119766 | 0.496392493 | 3.357727273 | 0.00279 | 0.027553982 |
| KIRP | 0.81667005 | -1.287751825 | 2.104421875 | 0.000262 | 0.000819252 |
| HNSC | 5.518168815 | 3.897699047 | 1.620469767 | 0.000101 | 0.000451789 |
| LUAD | 0.293217572 | -1.116606566 | 1.409824138 | 0.000143 | 0.000351698 |
| STAD | 3.1259138 | 0.362104425 | 2.763809375 | 2.51E-05 | 0.000243319 |
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| TissGene-miRNA for GJB4 |
| 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 GJB4 |
| TissGeneSNV for GJB4 |
| 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. |
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| 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) |
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| - nsSNVs sorted by frequency. |
| AAchange | Cancer type | # samples |
| p.D247N | SKCM | 2 |
| p.V37M | ESCA | 2 |
| p.P159A | UCEC | 1 |
| p.A143D | LUAD | 1 |
| p.K184N | LUAD | 1 |
| p.R151S | DLBC | 1 |
| p.D142N | PAAD | 1 |
| p.E102K | SKCM | 1 |
| p.L89M | LIHC | 1 |
| p.R98H | LIHC | 1 |
| p.V161M | GBM | 1 |
| p.C229R | UCEC | 1 |
| p.E41K | SKCM | 1 |
| p.T181M | COAD | 1 |
| p.S115F | LUSC | 1 |
| p.D155N | SKCM | 1 |
| p.E41D | UCEC | 1 |
| p.G242V | OV | 1 |
| p.W44L | LUAD | 1 |
| p.N249T | UCEC | 1 |
| p.R98H | LAML | 1 |
| p.Q241K | LUAD | 1 |
| p.T233M | PRAD | 1 |
| p.A143V | COAD | 1 |
| p.G144V | MESO | 1 |
| p.C197R | LUAD | 1 |
| p.D232N | STAD | 1 |
| p.P114L | STAD | 1 |
| p.T233M | STAD | 1 |
| p.N112I | SKCM | 1 |
| p.G242* | UCEC | 1 |
| p.R223Q | COAD | 1 |
| p.V166M | LUSC | 1 |
| p.T55S | READ | 1 |
| p.V71M | STAD | 1 |
| p.E182K | SKCM | 1 |
| p.N14S | LUAD | 1 |
| p.P70S | SKCM | 1 |
| p.R151H | LGG | 1 |
| p.D142N | SKCM | 1 |
| p.R160L | STAD | 1 |
| p.Y207H | LUAD | 1 |
| p.R98C | SKCM | 1 |
| p.R98H | ESCA | 1 |
| p.R101H | SKCM | 1 |
| p.E47K | HNSC | 1 |
| p.N2K | UCEC | 1 |
| p.R22L | LUSC | 1 |
| p.R22S | LUAD | 1 |
| p.H244P | BRCA | 1 |
| p.L239F | SKCM | 1 |
| p.S257L | SKCM | 1 |
| p.E47K | LUAD | 1 |
| p.W129* | LUAD | 1 |
| p.V209M | STAD | 1 |
| p.R22H | HNSC | 1 |
| p.F68L | UCEC | 1 |
| p.R103H | PRAD | 1 |
| p.E228D | SKCM | 1 |
| p.F68L | COAD | 1 |
| p.R32H | OV | 1 |
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| TissGeneCNV for GJB4 |
| 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 GJB4 |
| 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 GJB4 |
| 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 GJB4 |
| 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. |
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| 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. |
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| 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. |
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| 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 GJB4 |
| TissGeneDrug for GJB4 |
| 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 GJB4 |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C0265961 | Erythrokeratodermia variabilis | 8 | BeFree,CLINVAR,CTD_human,ORPHANET,UNIPROT |
| umls:C0432330 | Erythrokeratoderma | 6 | BeFree |
| umls:C0037274 | Dermatologic disorders | 3 | BeFree |
| umls:C0037277 | Skin Diseases, Genetic | 2 | BeFree |
| umls:C3711374 | Nonsyndromic Deafness | 2 | BeFree |
| umls:C0011053 | Deafness | 1 | GAD |
| umls:C0018772 | Hearing Loss, Partial | 1 | GAD |
| umls:C0018781 | Noise-induced hearing loss | 1 | GAD |
| umls:C0022596 | Palmoplantar Keratosis | 1 | BeFree |
| umls:C0022661 | Kidney Failure, Chronic | 1 | GAD |
| umls:C0079153 | Hyperkeratosis, Epidermolytic | 1 | CTD_human |
| umls:C0155552 | Hearing Loss, Mixed Conductive-Sensorineural | 1 | BeFree |
| umls:C0475811 | Disorder of keratinization | 1 | BeFree |
| umls:C1384666 | hearing impairment | 1 | GAD |
| umls:C3887873 | Hearing Loss | 1 | GAD |
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