Atlas of Genetics and Cytogenetics in Oncology and Haematology


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GJB7 (gap junction protein beta 7)

Identity

Alias_namesgap junction protein, beta 7
gap junction protein, beta 7, 25kDa
Alias_symbol (synonym)CX25
bA136M9.1
Other aliasconnexin25
HGNC (Hugo) GJB7
LocusID (NCBI) 375519
Atlas_Id 55940
Location 6q14.3  [Link to chromosome band 6q14]
Location_base_pair Starts at 87282979 and ends at 87329278 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)GJB7   16690
Cards
Entrez_Gene (NCBI)GJB7  375519  gap junction protein beta 7
AliasesCX25; bA136M9.1; connexin25
GeneCards (Weizmann)GJB7
Ensembl hg19 (Hinxton)ENSG00000164411 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000164411 [Gene_View]  ENSG00000164411 [Sequence]  chr6:87282979-87329278 [Contig_View]  GJB7 [Vega]
ICGC DataPortalENSG00000164411
TCGA cBioPortalGJB7
AceView (NCBI)GJB7
Genatlas (Paris)GJB7
WikiGenes375519
SOURCE (Princeton)GJB7
Genetics Home Reference (NIH)GJB7
Genomic and cartography
GoldenPath hg38 (UCSC)GJB7  -     chr6:87282979-87329278 -  6q14.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GJB7  -     6q14.3   [Description]    (hg19-Feb_2009)
EnsemblGJB7 - 6q14.3 [CytoView hg19]  GJB7 - 6q14.3 [CytoView hg38]
Mapping of homologs : NCBIGJB7 [Mapview hg19]  GJB7 [Mapview hg38]
OMIM611921   
Gene and transcription
Genbank (Entrez)AK127554 BC057813 BM976147
RefSeq transcript (Entrez)NM_198568
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GJB7
Cluster EST : UnigeneHs.146727 [ NCBI ]
CGAP (NCI)Hs.146727
Alternative Splicing GalleryENSG00000164411
Gene ExpressionGJB7 [ NCBI-GEO ]   GJB7 [ EBI - ARRAY_EXPRESS ]   GJB7 [ SEEK ]   GJB7 [ MEM ]
Gene Expression Viewer (FireBrowse)GJB7 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)375519
GTEX Portal (Tissue expression)GJB7
Human Protein AtlasENSG00000164411-GJB7 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6PEY0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6PEY0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6PEY0
Splice isoforms : SwissVarQ6PEY0
PhosPhoSitePlusQ6PEY0
Domaine pattern : Prosite (Expaxy)CONNEXINS_2 (PS00408)   
Domains : Interpro (EBI)Connexin    Connexin_CCC    Connexin_CS    Connexin_N    Connexin_N_sf   
Domain families : Pfam (Sanger)Connexin (PF00029)   
Domain families : Pfam (NCBI)pfam00029   
Domain families : Smart (EMBL)CNX (SM00037)  Connexin_CCC (SM01089)  
Conserved Domain (NCBI)GJB7
DMDM Disease mutations375519
Blocks (Seattle)GJB7
SuperfamilyQ6PEY0
Human Protein Atlas [tissue]ENSG00000164411-GJB7 [tissue]
Peptide AtlasQ6PEY0
HPRD13579
IPIIPI00306888   IPI00974302   
Protein Interaction databases
DIP (DOE-UCLA)Q6PEY0
IntAct (EBI)Q6PEY0
FunCoupENSG00000164411
BioGRIDGJB7
STRING (EMBL)GJB7
ZODIACGJB7
Ontologies - Pathways
QuickGOQ6PEY0
Ontology : AmiGOgap junction channel activity  connexin complex  cell communication  integral component of membrane  transmembrane transport  
Ontology : EGO-EBIgap junction channel activity  connexin complex  cell communication  integral component of membrane  transmembrane transport  
NDEx NetworkGJB7
Atlas of Cancer Signalling NetworkGJB7
Wikipedia pathwaysGJB7
Orthology - Evolution
OrthoDB375519
GeneTree (enSembl)ENSG00000164411
Phylogenetic Trees/Animal Genes : TreeFamGJB7
HOVERGENQ6PEY0
HOGENOMQ6PEY0
Homologs : HomoloGeneGJB7
Homology/Alignments : Family Browser (UCSC)GJB7
Gene fusions - Rearrangements
Fusion : QuiverGJB7
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGJB7 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GJB7
dbVarGJB7
ClinVarGJB7
1000_GenomesGJB7 
Exome Variant ServerGJB7
ExAC (Exome Aggregation Consortium)ENSG00000164411
GNOMAD BrowserENSG00000164411
Varsome BrowserGJB7
Genetic variants : HAPMAP375519
Genomic Variants (DGV)GJB7 [DGVbeta]
DECIPHERGJB7 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGJB7 
Mutations
ICGC Data PortalGJB7 
TCGA Data PortalGJB7 
Broad Tumor PortalGJB7
OASIS PortalGJB7 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGJB7  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDGJB7
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch GJB7
DgiDB (Drug Gene Interaction Database)GJB7
DoCM (Curated mutations)GJB7 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GJB7 (select a term)
intoGenGJB7
Cancer3DGJB7(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611921   
Orphanet
DisGeNETGJB7
MedgenGJB7
Genetic Testing Registry GJB7
NextProtQ6PEY0 [Medical]
TSGene375519
GENETestsGJB7
Target ValidationGJB7
Huge Navigator GJB7 [HugePedia]
snp3D : Map Gene to Disease375519
BioCentury BCIQGJB7
ClinGenGJB7
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD375519
Chemical/Pharm GKB GenePA134949515
Clinical trialGJB7
Miscellaneous
canSAR (ICR)GJB7 (select the gene name)
Probes
Litterature
PubMed11 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGJB7
EVEXGJB7
GoPubMedGJB7
iHOPGJB7
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 6 11:08:31 CET 2018

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