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| TissGeneSummary for GJB1 |
 Gene summary |
| Basic gene information | Gene symbol | GJB1 |
| Gene name | gap junction protein, beta 1, 32kDa | |
| Synonyms | CMTX|CMTX1|CX32 | |
| Cytomap | UCSC genome browser: Xq13.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000166.5, NM_001097642.2, | |
| Description | GAP junction 28 kDa liver proteinconnexin 32connexin-32gap junction beta-1 protein | |
| Modification date | 20141219 | |
| dbXrefs | MIM : 304040 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000169562 | ||
| HPRD : 02367 | ||
| Vega : OTTHUMG00000021797 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_GJB1 | |
| BioGPS: 2705 | ||
| Pathway | NCI Pathway Interaction Database: GJB1 | |
| KEGG: GJB1 | ||
| REACTOME: GJB1 | ||
| Pathway Commons: GJB1 | ||
| Context | iHOP: GJB1 | |
| ligand binding site mutation search in PubMed: GJB1 | ||
| UCL Cancer Institute: GJB1 | ||
| 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) | LiverSkin | |
| Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | LIHCSKCM | |
| Reference showing the relevant tissue of GJB1 | ||
| 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 GJB1 |
| 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 |
| LUSC | -3.189785201 | 0.80074225 | -3.990527451 | 7.86E-16 | 5.50E-15 |
| KIRC | 2.202944293 | 3.737377626 | -1.534433333 | 7.61E-13 | 3.31E-12 |
| THCA | -4.970522256 | -3.141961239 | -1.828561017 | 3.84E-11 | 2.71E-10 |
| HNSC | -4.63426459 | -1.737252962 | -2.897011628 | 2.65E-07 | 2.31E-06 |
| KICH | -3.464545985 | 3.459022015 | -6.923568 | 8.24E-15 | 1.61E-13 |
| PRAD | 5.003448246 | 3.302136707 | 1.701311538 | 1.54E-14 | 1.57E-12 |
| KIRP | 2.715922765 | 4.263085265 | -1.5471625 | 3.42E-06 | 1.55E-05 |
| STAD | 3.10178214 | 0.82542589 | 2.27635625 | 0.00852 | 0.030415048 |
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| TissGene-miRNA for GJB1 |
| 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 GJB1 |
| TissGeneSNV for GJB1 |
| 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.W133* | LUAD | 1 |
| p.W3C | STAD | 1 |
| p.E41D | LUAD | 1 |
| p.R164Q | SARC | 1 |
| p.E102Q | CESC | 1 |
| p.W44* | SKCM | 1 |
| p.T191S | LUAD | 1 |
| p.V120M | SKCM | 1 |
| p.V63I | KICH | 1 |
| p.H100R | UCEC | 1 |
| p.R164W | COAD | 1 |
| p.G5C | UCEC | 1 |
| p.G270R | STAD | 1 |
| p.G110A | COAD | 1 |
| p.I52T | KIRC | 1 |
| p.R230H | PAAD | 1 |
| p.A92T | UCEC | 1 |
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| TissGeneCNV for GJB1 |
| 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 GJB1 |
| 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 GJB1 |
| 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) |
| BRCA (tumor) | BRCA (normal) |
| GJB1, HNF4A, ONECUT1, SRC, PRKCA, SOX10, PRKACA, CALM1, HNF1A, CAV1, EGR2, SALL1, CNST, OCLN, GJB2 (tumor) | GJB1, HNF4A, ONECUT1, SRC, PRKCA, SOX10, PRKACA, CALM1, HNF1A, CAV1, EGR2, SALL1, CNST, OCLN, GJB2 (normal) |
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| COAD (tumor) | COAD (normal) |
| GJB1, HNF4A, ONECUT1, SRC, PRKCA, SOX10, PRKACA, CALM1, HNF1A, CAV1, EGR2, SALL1, CNST, OCLN, GJB2 (tumor) | GJB1, HNF4A, ONECUT1, SRC, PRKCA, SOX10, PRKACA, CALM1, HNF1A, CAV1, EGR2, SALL1, CNST, OCLN, GJB2 (normal) |
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| HNSC (tumor) | HNSC (normal) |
| GJB1, HNF4A, ONECUT1, SRC, PRKCA, SOX10, PRKACA, CALM1, HNF1A, CAV1, EGR2, SALL1, CNST, OCLN, GJB2 (tumor) | GJB1, HNF4A, ONECUT1, SRC, PRKCA, SOX10, PRKACA, CALM1, HNF1A, CAV1, EGR2, SALL1, CNST, OCLN, GJB2 (normal) |
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| KICH (tumor) | KICH (normal) |
| GJB1, HNF4A, ONECUT1, SRC, PRKCA, SOX10, PRKACA, CALM1, HNF1A, CAV1, EGR2, SALL1, CNST, OCLN, GJB2 (tumor) | GJB1, HNF4A, ONECUT1, SRC, PRKCA, SOX10, PRKACA, CALM1, HNF1A, CAV1, EGR2, SALL1, CNST, OCLN, GJB2 (normal) |
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| KIRC (tumor) | KIRC (normal) |
| GJB1, HNF4A, ONECUT1, SRC, PRKCA, SOX10, PRKACA, CALM1, HNF1A, CAV1, EGR2, SALL1, CNST, OCLN, GJB2 (tumor) | GJB1, HNF4A, ONECUT1, SRC, PRKCA, SOX10, PRKACA, CALM1, HNF1A, CAV1, EGR2, SALL1, CNST, OCLN, GJB2 (normal) |
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| KIRP (tumor) | KIRP (normal) |
| GJB1, HNF4A, ONECUT1, SRC, PRKCA, SOX10, PRKACA, CALM1, HNF1A, CAV1, EGR2, SALL1, CNST, OCLN, GJB2 (tumor) | GJB1, HNF4A, ONECUT1, SRC, PRKCA, SOX10, PRKACA, CALM1, HNF1A, CAV1, EGR2, SALL1, CNST, OCLN, GJB2 (normal) |
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| LIHC (tumor) | LIHC (normal) |
| GJB1, HNF4A, ONECUT1, SRC, PRKCA, SOX10, PRKACA, CALM1, HNF1A, CAV1, EGR2, SALL1, CNST, OCLN, GJB2 (tumor) | GJB1, HNF4A, ONECUT1, SRC, PRKCA, SOX10, PRKACA, CALM1, HNF1A, CAV1, EGR2, SALL1, CNST, OCLN, GJB2 (normal) |
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| LUAD (tumor) | LUAD (normal) |
| GJB1, HNF4A, ONECUT1, SRC, PRKCA, SOX10, PRKACA, CALM1, HNF1A, CAV1, EGR2, SALL1, CNST, OCLN, GJB2 (tumor) | GJB1, HNF4A, ONECUT1, SRC, PRKCA, SOX10, PRKACA, CALM1, HNF1A, CAV1, EGR2, SALL1, CNST, OCLN, GJB2 (normal) |
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| LUSC (tumor) | LUSC (normal) |
| GJB1, HNF4A, ONECUT1, SRC, PRKCA, SOX10, PRKACA, CALM1, HNF1A, CAV1, EGR2, SALL1, CNST, OCLN, GJB2 (tumor) | GJB1, HNF4A, ONECUT1, SRC, PRKCA, SOX10, PRKACA, CALM1, HNF1A, CAV1, EGR2, SALL1, CNST, OCLN, GJB2 (normal) |
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| PRAD (tumor) | PRAD (normal) |
| GJB1, HNF4A, ONECUT1, SRC, PRKCA, SOX10, PRKACA, CALM1, HNF1A, CAV1, EGR2, SALL1, CNST, OCLN, GJB2 (tumor) | GJB1, HNF4A, ONECUT1, SRC, PRKCA, SOX10, PRKACA, CALM1, HNF1A, CAV1, EGR2, SALL1, CNST, OCLN, GJB2 (normal) |
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| STAD (tumor) | STAD (normal) |
| GJB1, HNF4A, ONECUT1, SRC, PRKCA, SOX10, PRKACA, CALM1, HNF1A, CAV1, EGR2, SALL1, CNST, OCLN, GJB2 (tumor) | GJB1, HNF4A, ONECUT1, SRC, PRKCA, SOX10, PRKACA, CALM1, HNF1A, CAV1, EGR2, SALL1, CNST, OCLN, GJB2 (normal) |
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| THCA (tumor) | THCA (normal) |
| GJB1, HNF4A, ONECUT1, SRC, PRKCA, SOX10, PRKACA, CALM1, HNF1A, CAV1, EGR2, SALL1, CNST, OCLN, GJB2 (tumor) | GJB1, HNF4A, ONECUT1, SRC, PRKCA, SOX10, PRKACA, CALM1, HNF1A, CAV1, EGR2, SALL1, CNST, OCLN, GJB2 (normal) |
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| TissGeneProg for GJB1 |
| 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 GJB1 |
| TissGeneDrug for GJB1 |
| 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 GJB1 |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C0007959 | Charcot-Marie-Tooth Disease | 146 | BeFree,CLINVAR,GAD,LHGDN |
| umls:C0393808 | Charcot-Marie-Tooth disease, X-linked, 1 | 83 | BeFree,CLINVAR,CTD_human,MGD,ORPHANET,UNIPROT |
| umls:C0442874 | Neuropathy | 21 | BeFree |
| umls:C0270922 | Peripheral demyelinating neuropathy | 16 | BeFree |
| umls:C0031117 | Peripheral Neuropathy | 12 | BeFree,LHGDN |
| umls:C2239176 | Liver carcinoma | 11 | BeFree,CTD_human,LHGDN |
| umls:C0007134 | Renal Cell Carcinoma | 10 | BeFree,CTD_human,LHGDN |
| umls:C0023903 | Liver neoplasms | 8 | BeFree,CTD_human |
| umls:C0027888 | Hereditary Motor and Sensory Neuropathies | 6 | BeFree |
| umls:C0598589 | Inherited neuropathies | 6 | BeFree |
| umls:C0011195 | Dejerine-Sottas Disease (disorder) | 5 | BeFree,CLINVAR,UNIPROT |
| umls:C0751036 | Hereditary Motor and Sensory Neuropathy Type I | 5 | BeFree |
| umls:C0001418 | Adenocarcinoma | 4 | BeFree |
| umls:C0027627 | Neoplasm Metastasis | 4 | BeFree,CTD_human,LHGDN |
| umls:C0393814 | Hereditary liability to pressure palsies | 4 | BeFree |
| umls:C0596263 | Carcinogenesis | 4 | BeFree |
| umls:C1512409 | Hepatocarcinogenesis | 4 | BeFree |
| umls:C0018784 | Sensorineural Hearing Loss (disorder) | 3 | BeFree |
| umls:C0024121 | Lung Neoplasms | 3 | CTD_human,LHGDN |
| umls:C0235031 | Neurologic Symptoms | 3 | BeFree |
| umls:C0278678 | Metastatic Renal Cell Cancer | 3 | BeFree |
| umls:C0376358 | Malignant neoplasm of prostate | 3 | BeFree |
| umls:C2932678 | Inherited Peripheral Neuropathy | 3 | BeFree |
| umls:C0004134 | Ataxia | 2 | BeFree,LHGDN |
| umls:C0023904 | Liver Neoplasms, Experimental | 2 | CTD_human,RGD |
| umls:C0024623 | Malignant neoplasm of stomach | 2 | BeFree |
| umls:C0026269 | Mitral Valve Stenosis | 2 | BeFree |
| umls:C0026769 | Multiple Sclerosis | 2 | BeFree |
| umls:C0027126 | Myotonic Dystrophy | 2 | BeFree |
| umls:C0151313 | Sensory neuropathy | 2 | BeFree |
| umls:C0152013 | Adenocarcinoma of lung (disorder) | 2 | BeFree |
| umls:C0152025 | Polyneuropathy | 2 | BeFree |
| umls:C0152027 | Sensory Disorders | 2 | BeFree |
| umls:C0338656 | Impaired cognition | 2 | BeFree |
| umls:C0392553 | Hereditary peripheral neuropathy | 2 | BeFree |
| umls:C0422879 | CNS symptom | 2 | BeFree |
| umls:C0600139 | Prostate carcinoma | 2 | BeFree |
| umls:C0684249 | Carcinoma of lung | 2 | BeFree |
| umls:C0686377 | CNS metastases | 2 | BeFree |
| umls:C0699791 | Stomach Carcinoma | 2 | BeFree |
| umls:C0740457 | Malignant neoplasm of kidney | 2 | BeFree |
| umls:C0947751 | Vascular inflammations | 2 | BeFree |
| umls:C1378703 | Renal carcinoma | 2 | BeFree |
| umls:C1520166 | Xenograft Model | 2 | BeFree |
| umls:C0001430 | Adenoma | 1 | CTD_human |
| umls:C0003130 | Anoxia | 1 | LHGDN |
| umls:C0005398 | Cholestasis, Extrahepatic | 1 | RGD |
| umls:C0006142 | Malignant neoplasm of breast | 1 | BeFree |
| umls:C0013362 | Dysarthria | 1 | LHGDN |
| umls:C0015230 | Exanthema | 1 | BeFree |
| umls:C0017638 | Glioma | 1 | BeFree |
| umls:C0018781 | Noise-induced hearing loss | 1 | GAD |
| umls:C0021051 | Immunologic Deficiency Syndromes | 1 | BeFree |
| umls:C0023520 | Leukodystrophy | 1 | BeFree |
| umls:C0030554 | Paresthesia | 1 | BeFree |
| umls:C0031511 | Pheochromocytoma | 1 | BeFree |
| umls:C0032927 | Precancerous Conditions | 1 | CTD_human |
| umls:C0035126 | Reperfusion Injury | 1 | CTD_human |
| umls:C0087012 | Ataxia, Spinocerebellar | 1 | BeFree |
| umls:C0162309 | Adrenoleukodystrophy | 1 | BeFree |
| umls:C0235974 | Pancreatic carcinoma | 1 | BeFree |
| umls:C0242379 | Malignant neoplasm of lung | 1 | BeFree |
| umls:C0270914 | Hereditary Motor and Sensory-Neuropathy Type II | 1 | BeFree |
| umls:C0270921 | Axonal neuropathy | 1 | BeFree |
| umls:C0270933 | Inflammatory neuropathy | 1 | BeFree |
| umls:C0332853 | Anastomosis | 1 | BeFree |
| umls:C0346647 | Malignant neoplasm of pancreas | 1 | BeFree |
| umls:C0374997 | Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site | 1 | BeFree |
| umls:C0393819 | Polyradiculoneuropathy, Chronic Inflammatory Demyelinating | 1 | BeFree |
| umls:C0393907 | Axonal sensorimotor neuropathy | 1 | BeFree |
| umls:C0410226 | Congenital Myotonic Dystrophy | 1 | BeFree |
| umls:C0587246 | Weakness of limb | 1 | BeFree |
| umls:C0678222 | Breast Carcinoma | 1 | BeFree |
| umls:C0848332 | Spots on skin | 1 | BeFree |
| umls:C0850666 | Helicobacter pylori infection | 1 | BeFree |
| umls:C0920350 | Autoimmune thyroiditis | 1 | RGD |
| umls:C1140680 | Malignant neoplasm of ovary | 1 | GAD |
| umls:C1527231 | Adrenomyeloneuropathy | 1 | BeFree |
| umls:C1720983 | Channelopathies | 1 | BeFree |
| umls:C0796205 | SPINOCEREBELLAR ATAXIA, X-LINKED 1 | 0 | ORPHANET |
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