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Bioinformatics and Systems Medicine Laboratory Bioinformatics and Systems Medicine Laboratory

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TissGeneSummary

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TissGeneExp

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TissGene-miRNA

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TissGeneMut: TissGeneSNV, TissGeneCNV, and TissGeneFusions

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TissGeneNet

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TissGeneProg

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TissGeneClin: TissGeneDrug and TissGeneDisease

TissGeneSummary for GJA8
check button Gene summary
Basic gene informationGene symbolGJA8
Gene namegap junction protein, alpha 8, 50kDa
SynonymsCAE|CAE1|CTRCT1|CX50|CZP1|MP70
CytomapUCSC genome browser: 1q21.1
Type of geneprotein-coding
RefGenesNM_005267.4,
Descriptioncell 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 date20141207
dbXrefs MIM : 600897
HGNC : HGNC
HPRD : 02939
ProteinUniProt:
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_GJA8
BioGPS: 2703
PathwayNCI Pathway Interaction Database: GJA8
KEGG: GJA8
REACTOME: GJA8
Pathway Commons: GJA8
ContextiHOP: GJA8
ligand binding site mutation search in PubMed: GJA8
UCL Cancer Institute: GJA8
Assigned class in TissGDB*C
Included tissue-specific gene expression resourcesHPA,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.

check button Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO termPubMed ID


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TissGeneExp for GJA8

check button 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 exp


check button 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 isoform exp


check button 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.
normal gene exp


check button 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)
DEG exp

- Significantly differentially expressed cancer types and information. (|Fold change|>1 and FDR<0.05)
Cancer typeMean(exp) in tumorMean(exp) in matched normalLog2FCP-val.FDR
KICH-1.4364508170.636669183-2.073128.78E-094.74E-08
KIRC-1.140311150.543127739-1.6834388893.16E-222.90E-21


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TissGene-miRNA for GJA8

check button 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 typemiRNA idmiRNA accessionP-val.Coeff.# samples


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TissGeneMut for GJA8
TissGeneSNV for GJA8

check button 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.
SNV lollipop
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check button 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)
SNV distribution

- nsSNVs sorted by frequency.
AAchangeCancer type# samples
p.Q317*SKCM2
p.G119ESKCM2
p.V100IUCEC1
p.A40TSKCM1
p.G122SUCEC1
p.D51NSKCM1
p.K390ROV1
p.D67NLUSC1
p.V433ICOAD1
p.E162KHNSC1
p.Q126KLUSC1
p.V20ISARC1
p.L29FPRAD1
p.E389KSKCM1
p.V28MCOAD1
p.Q317HSKCM1
p.G123SCOAD1
p.E343KSKCM1
p.E283DLUAD1
p.E318DESCA1
p.R76LLUAD1
p.V257LKIRC1
p.A96VOV1
p.E385KSKCM1
p.S73FSKCM1
p.G310VLUAD1
p.R185WUCS1
p.R176WSTAD1
p.G369RSKCM1
p.E354KHNSC1
p.D430NSKCM1
p.A40VSKCM1
p.R182CCOAD1
p.I155TPAAD1
p.E384QLGG1
p.V366MCOAD1
p.H98LHNSC1
p.R425QSKCM1
p.E334XSKCM1
p.A256VPAAD1
p.R101LESCA1
p.E110KUCEC1
p.R106HPRAD1
p.E334*SKCM1
p.R33WREAD1
p.R233WREAD1
p.Q317XSKCM1
p.Q81HBLCA1
p.G327WLUAD1
p.R149WHNSC1
p.A365VSKCM1
p.E162KSKCM1
p.S132NLIHC1
p.R106CCOAD1
p.R314LLUAD1
p.G115SSTAD1
p.E113KSKCM1
p.T200MSTAD1
p.Q261*LIHC1
p.E360KCESC1
p.L37FSKCM1
p.D67NSTAD1
p.R176QSTAD1
p.S322FSKCM1
p.T282PSTAD1
p.V85IPRAD1
p.T200KLUAD1
p.Q261XLIHC1
p.C194FLUAD1
p.E382KSKCM1
p.S251FUCEC1
p.A111VLUAD1
p.L210FKIRC1
p.Q317ELUAD1
p.Q242KREAD1
p.W78COV1
p.E343KMESO1
p.K262NSKCM1
p.W4*SKCM1
p.A213SLUAD1
p.Q58*ACC1
p.E13*LUSC1
p.E110KBLCA1
p.H253LLIHC1
p.R76HCOAD1
p.Y92XLIHC1
p.R425QLUAD1
p.S276FSKCM1
p.E283KSKCM1
p.Y92FLUAD1
p.D67NPRAD1
p.R142LLUAD1
p.S234FSKCM1
p.A338KHNSC1
p.P386LBRCA1
p.Y92*LUAD1
p.K383TSKCM1
p.C54RPRAD1
p.V196MBLCA1
p.Q58XACC1
p.A338THNSC1
p.G145RSKCM1
p.A96SLUAD1
p.T282AUCEC1
p.G94RBLCA1
p.E144DSTAD1
p.E330KSKCM1
p.E272DUCEC1
p.E389DCOAD1
p.E110KHNSC1
p.W4XSKCM1
p.D125ELUSC1
p.D67YESCA1
p.R106CSTAD1
p.V366MSARC1
p.S133RLUAD1


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TissGeneCNV for GJA8

check button 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)
CNV


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TissGeneFusions for GJA8

check button Fusion genes including TissGene
(ChimerDB 3.0, 2016-12-01 and TCGA fusion Portal 2015-12-01)
DatabaseSrcCancer typeSampleFusion geneORF5'-gene BP3'-gene BP


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TissGeneNet for GJA8

check button 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)
GJA8, TJP1, MIP (tumor)GJA8, TJP1, MIP (normal)
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COAD (tumor)COAD (normal)
GJA8, TJP1, MIP (tumor)GJA8, TJP1, MIP (normal)
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HNSC (tumor)HNSC (normal)
GJA8, TJP1, MIP (tumor)GJA8, TJP1, MIP (normal)
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KICH (tumor)KICH (normal)
GJA8, TJP1, MIP (tumor)GJA8, TJP1, MIP (normal)
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KIRC (tumor)KIRC (normal)
GJA8, TJP1, MIP (tumor)GJA8, TJP1, MIP (normal)
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KIRP (tumor)KIRP (normal)
GJA8, TJP1, MIP (tumor)GJA8, TJP1, MIP (normal)
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LIHC (tumor)LIHC (normal)
GJA8, TJP1, MIP (tumor)GJA8, TJP1, MIP (normal)
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LUAD (tumor)LUAD (normal)
GJA8, TJP1, MIP (tumor)GJA8, TJP1, MIP (normal)
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LUSC (tumor)LUSC (normal)
GJA8, TJP1, MIP (tumor)GJA8, TJP1, MIP (normal)
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PRAD (tumor)PRAD (normal)
GJA8, TJP1, MIP (tumor)GJA8, TJP1, MIP (normal)
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STAD (tumor)STAD (normal)
GJA8, TJP1, MIP (tumor)GJA8, TJP1, MIP (normal)
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THCA (tumor)THCA (normal)
GJA8, TJP1, MIP (tumor)GJA8, TJP1, MIP (normal)
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TissGeneProg for GJA8

check button 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.
survival 1

check button 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.
survival 2

check button 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.
survival 3

check button 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.
survival 4

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TissGeneClin for GJA8
TissGeneDrug for GJA8

check button Drug information targeting TissGene
(DrugBank Version 5.0.6, 2017-04-01)
DrugBank IDDrug nameDrug activityDrug typeDrug status


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TissGeneDisease for GJA8

check button Disease information associated with TissGene
(DisGeNet, 2016-06-01)
Disease IDDisease name# pubmedsSource
umls:C0086543Cataract38BeFree,CTD_human,GAD,LHGDN,RGD
umls:C0009691Congenital cataract22BeFree
umls:C0521707Bilateral cataracts (disorder)16BeFree
umls:C1861828Cataract, Zonular Pulverulent 19BeFree,CLINVAR,CTD_human,MGD,UNIPROT
umls:C0025202melanoma7BeFree
umls:C0027627Neoplasm Metastasis6BeFree
umls:C0266544Microcornea5BeFree
umls:C0392557Nuclear cataract4BeFree
umls:C1112705Nuclear non-senile cataract4BeFree
umls:C0029925Ovarian Carcinoma3BeFree
umls:C0158551Embryonal nuclear cataract (disorder)3BeFree
umls:C0162534Prion Diseases3BeFree
umls:C1833118Cataract, Pulverulent3BeFree
umls:C1858679CATARACT, AUTOSOMAL DOMINANT3BeFree
umls:C0014544Epilepsy2BeFree
umls:C0014553Absence Epilepsy2BeFree
umls:C0023467Leukemia, Myelocytic, Acute2BeFree
umls:C0025500Mesothelioma2BeFree
umls:C0026764Multiple Myeloma2BeFree
umls:C0027819Neuroblastoma2BeFree
umls:C0036646Age-related cataract2BeFree
umls:C0178874Tumor Progression2BeFree
umls:C0235974Pancreatic carcinoma2BeFree
umls:C0346647Malignant neoplasm of pancreas2BeFree
umls:C0376358Malignant neoplasm of prostate2BeFree
umls:C0600139Prostate carcinoma2BeFree
umls:C0700095Central neuroblastoma2BeFree
umls:C1140680Malignant neoplasm of ovary2BeFree
umls:C1368683Epithelioma2BeFree
umls:C1861829Cataract microcornea syndrome2BeFree,CTD_human,ORPHANET
umls:C0001418Adenocarcinoma1BeFree
umls:C0006142Malignant neoplasm of breast1BeFree
umls:C0009402Colorectal Carcinoma1BeFree
umls:C0015230Exanthema1BeFree
umls:C0015397Disorder of eye1BeFree
umls:C0021841Intestinal Neoplasms1BeFree
umls:C0023449Acute lymphocytic leukemia1BeFree
umls:C0023473Myeloid Leukemia, Chronic1BeFree
umls:C0026010Microphthalmos1BeFree
umls:C0030809Pemphigus Vulgaris1BeFree
umls:C0036341Schizophrenia1BeFree,GAD,LHGDN
umls:C0037274Dermatologic disorders1BeFree
umls:C0041234Chagas Disease1BeFree
umls:C0151544Gastrointestinal carcinoma1BeFree
umls:C0153690Secondary malignant neoplasm of bone1BeFree
umls:C0270853Myoclonic Epilepsy, Juvenile1BeFree
umls:C0279000Liver and Intrahepatic Biliary Tract Carcinoma1BeFree
umls:C0338106Adenocarcinoma of colon1BeFree
umls:C0345904Malignant neoplasm of liver1BeFree
umls:C0349637Common acute lymphoblastic leukemia1BeFree
umls:C0376544Hematopoietic Neoplasms1BeFree
umls:C0393697Epilepsy with grand mal seizures on awakening (disorder)1BeFree
umls:C0398625Protein C Deficiency1BeFree
umls:C0678222Breast Carcinoma1BeFree
umls:C0848332Spots on skin1BeFree
umls:C0936223Metastatic Prostate Carcinoma1BeFree
umls:C2239176Liver carcinoma1BeFree
umls:C3811653Experimental Organism Basal Cell Carcinoma1BeFree