TissGeneSummary for GJA8 |
Gene summary |
Basic gene information | Gene symbol | GJA8 |
Gene name | gap junction protein, alpha 8, 50kDa | |
Synonyms | CAE|CAE1|CTRCT1|CX50|CZP1|MP70 | |
Cytomap | UCSC genome browser: 1q21.1 | |
Type of gene | protein-coding | |
RefGenes | NM_005267.4, | |
Description | cell surface glycoproteinconnexin 50connexin-50gap junction alpha-8 proteingap junction membrane channel protein alpha-8gap junction protein alpha 8 50kDalens fiber protein MP70lens intrinsic membrane protein MP70 | |
Modification date | 20141207 | |
dbXrefs | MIM : 600897 | |
HGNC : HGNC | ||
HPRD : 02939 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_GJA8 | |
BioGPS: 2703 | ||
Pathway | NCI Pathway Interaction Database: GJA8 | |
KEGG: GJA8 | ||
REACTOME: GJA8 | ||
Pathway Commons: GJA8 | ||
Context | iHOP: GJA8 | |
ligand binding site mutation search in PubMed: GJA8 | ||
UCL Cancer Institute: GJA8 | ||
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) | Testis | |
Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | TGCT | |
Reference showing the relevant tissue of GJA8 | ||
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 GJA8 |
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 | -1.436450817 | 0.636669183 | -2.07312 | 8.78E-09 | 4.74E-08 |
KIRC | -1.14031115 | 0.543127739 | -1.683438889 | 3.16E-22 | 2.90E-21 |
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TissGene-miRNA for GJA8 |
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 GJA8 |
TissGeneSNV for GJA8 |
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.Q317* | SKCM | 2 |
p.G119E | SKCM | 2 |
p.V100I | UCEC | 1 |
p.A40T | SKCM | 1 |
p.G122S | UCEC | 1 |
p.D51N | SKCM | 1 |
p.K390R | OV | 1 |
p.D67N | LUSC | 1 |
p.V433I | COAD | 1 |
p.E162K | HNSC | 1 |
p.Q126K | LUSC | 1 |
p.V20I | SARC | 1 |
p.L29F | PRAD | 1 |
p.E389K | SKCM | 1 |
p.V28M | COAD | 1 |
p.Q317H | SKCM | 1 |
p.G123S | COAD | 1 |
p.E343K | SKCM | 1 |
p.E283D | LUAD | 1 |
p.E318D | ESCA | 1 |
p.R76L | LUAD | 1 |
p.V257L | KIRC | 1 |
p.A96V | OV | 1 |
p.E385K | SKCM | 1 |
p.S73F | SKCM | 1 |
p.G310V | LUAD | 1 |
p.R185W | UCS | 1 |
p.R176W | STAD | 1 |
p.G369R | SKCM | 1 |
p.E354K | HNSC | 1 |
p.D430N | SKCM | 1 |
p.A40V | SKCM | 1 |
p.R182C | COAD | 1 |
p.I155T | PAAD | 1 |
p.E384Q | LGG | 1 |
p.V366M | COAD | 1 |
p.H98L | HNSC | 1 |
p.R425Q | SKCM | 1 |
p.E334X | SKCM | 1 |
p.A256V | PAAD | 1 |
p.R101L | ESCA | 1 |
p.E110K | UCEC | 1 |
p.R106H | PRAD | 1 |
p.E334* | SKCM | 1 |
p.R33W | READ | 1 |
p.R233W | READ | 1 |
p.Q317X | SKCM | 1 |
p.Q81H | BLCA | 1 |
p.G327W | LUAD | 1 |
p.R149W | HNSC | 1 |
p.A365V | SKCM | 1 |
p.E162K | SKCM | 1 |
p.S132N | LIHC | 1 |
p.R106C | COAD | 1 |
p.R314L | LUAD | 1 |
p.G115S | STAD | 1 |
p.E113K | SKCM | 1 |
p.T200M | STAD | 1 |
p.Q261* | LIHC | 1 |
p.E360K | CESC | 1 |
p.L37F | SKCM | 1 |
p.D67N | STAD | 1 |
p.R176Q | STAD | 1 |
p.S322F | SKCM | 1 |
p.T282P | STAD | 1 |
p.V85I | PRAD | 1 |
p.T200K | LUAD | 1 |
p.Q261X | LIHC | 1 |
p.C194F | LUAD | 1 |
p.E382K | SKCM | 1 |
p.S251F | UCEC | 1 |
p.A111V | LUAD | 1 |
p.L210F | KIRC | 1 |
p.Q317E | LUAD | 1 |
p.Q242K | READ | 1 |
p.W78C | OV | 1 |
p.E343K | MESO | 1 |
p.K262N | SKCM | 1 |
p.W4* | SKCM | 1 |
p.A213S | LUAD | 1 |
p.Q58* | ACC | 1 |
p.E13* | LUSC | 1 |
p.E110K | BLCA | 1 |
p.H253L | LIHC | 1 |
p.R76H | COAD | 1 |
p.Y92X | LIHC | 1 |
p.R425Q | LUAD | 1 |
p.S276F | SKCM | 1 |
p.E283K | SKCM | 1 |
p.Y92F | LUAD | 1 |
p.D67N | PRAD | 1 |
p.R142L | LUAD | 1 |
p.S234F | SKCM | 1 |
p.A338K | HNSC | 1 |
p.P386L | BRCA | 1 |
p.Y92* | LUAD | 1 |
p.K383T | SKCM | 1 |
p.C54R | PRAD | 1 |
p.V196M | BLCA | 1 |
p.Q58X | ACC | 1 |
p.A338T | HNSC | 1 |
p.G145R | SKCM | 1 |
p.A96S | LUAD | 1 |
p.T282A | UCEC | 1 |
p.G94R | BLCA | 1 |
p.E144D | STAD | 1 |
p.E330K | SKCM | 1 |
p.E272D | UCEC | 1 |
p.E389D | COAD | 1 |
p.E110K | HNSC | 1 |
p.W4X | SKCM | 1 |
p.D125E | LUSC | 1 |
p.D67Y | ESCA | 1 |
p.R106C | STAD | 1 |
p.V366M | SARC | 1 |
p.S133R | LUAD | 1 |
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TissGeneCNV for GJA8 |
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 GJA8 |
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 GJA8 |
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 GJA8 |
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 GJA8 |
TissGeneDrug for GJA8 |
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 GJA8 |
Disease information associated with TissGene (DisGeNet, 2016-06-01) |
Disease ID | Disease name | # pubmeds | Source |
umls:C0086543 | Cataract | 38 | BeFree,CTD_human,GAD,LHGDN,RGD |
umls:C0009691 | Congenital cataract | 22 | BeFree |
umls:C0521707 | Bilateral cataracts (disorder) | 16 | BeFree |
umls:C1861828 | Cataract, Zonular Pulverulent 1 | 9 | BeFree,CLINVAR,CTD_human,MGD,UNIPROT |
umls:C0025202 | melanoma | 7 | BeFree |
umls:C0027627 | Neoplasm Metastasis | 6 | BeFree |
umls:C0266544 | Microcornea | 5 | BeFree |
umls:C0392557 | Nuclear cataract | 4 | BeFree |
umls:C1112705 | Nuclear non-senile cataract | 4 | BeFree |
umls:C0029925 | Ovarian Carcinoma | 3 | BeFree |
umls:C0158551 | Embryonal nuclear cataract (disorder) | 3 | BeFree |
umls:C0162534 | Prion Diseases | 3 | BeFree |
umls:C1833118 | Cataract, Pulverulent | 3 | BeFree |
umls:C1858679 | CATARACT, AUTOSOMAL DOMINANT | 3 | BeFree |
umls:C0014544 | Epilepsy | 2 | BeFree |
umls:C0014553 | Absence Epilepsy | 2 | BeFree |
umls:C0023467 | Leukemia, Myelocytic, Acute | 2 | BeFree |
umls:C0025500 | Mesothelioma | 2 | BeFree |
umls:C0026764 | Multiple Myeloma | 2 | BeFree |
umls:C0027819 | Neuroblastoma | 2 | BeFree |
umls:C0036646 | Age-related cataract | 2 | BeFree |
umls:C0178874 | Tumor Progression | 2 | BeFree |
umls:C0235974 | Pancreatic carcinoma | 2 | BeFree |
umls:C0346647 | Malignant neoplasm of pancreas | 2 | BeFree |
umls:C0376358 | Malignant neoplasm of prostate | 2 | BeFree |
umls:C0600139 | Prostate carcinoma | 2 | BeFree |
umls:C0700095 | Central neuroblastoma | 2 | BeFree |
umls:C1140680 | Malignant neoplasm of ovary | 2 | BeFree |
umls:C1368683 | Epithelioma | 2 | BeFree |
umls:C1861829 | Cataract microcornea syndrome | 2 | BeFree,CTD_human,ORPHANET |
umls:C0001418 | Adenocarcinoma | 1 | BeFree |
umls:C0006142 | Malignant neoplasm of breast | 1 | BeFree |
umls:C0009402 | Colorectal Carcinoma | 1 | BeFree |
umls:C0015230 | Exanthema | 1 | BeFree |
umls:C0015397 | Disorder of eye | 1 | BeFree |
umls:C0021841 | Intestinal Neoplasms | 1 | BeFree |
umls:C0023449 | Acute lymphocytic leukemia | 1 | BeFree |
umls:C0023473 | Myeloid Leukemia, Chronic | 1 | BeFree |
umls:C0026010 | Microphthalmos | 1 | BeFree |
umls:C0030809 | Pemphigus Vulgaris | 1 | BeFree |
umls:C0036341 | Schizophrenia | 1 | BeFree,GAD,LHGDN |
umls:C0037274 | Dermatologic disorders | 1 | BeFree |
umls:C0041234 | Chagas Disease | 1 | BeFree |
umls:C0151544 | Gastrointestinal carcinoma | 1 | BeFree |
umls:C0153690 | Secondary malignant neoplasm of bone | 1 | BeFree |
umls:C0270853 | Myoclonic Epilepsy, Juvenile | 1 | BeFree |
umls:C0279000 | Liver and Intrahepatic Biliary Tract Carcinoma | 1 | BeFree |
umls:C0338106 | Adenocarcinoma of colon | 1 | BeFree |
umls:C0345904 | Malignant neoplasm of liver | 1 | BeFree |
umls:C0349637 | Common acute lymphoblastic leukemia | 1 | BeFree |
umls:C0376544 | Hematopoietic Neoplasms | 1 | BeFree |
umls:C0393697 | Epilepsy with grand mal seizures on awakening (disorder) | 1 | BeFree |
umls:C0398625 | Protein C Deficiency | 1 | BeFree |
umls:C0678222 | Breast Carcinoma | 1 | BeFree |
umls:C0848332 | Spots on skin | 1 | BeFree |
umls:C0936223 | Metastatic Prostate Carcinoma | 1 | BeFree |
umls:C2239176 | Liver carcinoma | 1 | BeFree |
umls:C3811653 | Experimental Organism Basal Cell Carcinoma | 1 | BeFree |