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GJE1 (gap junction protein epsilon 1)

Identity

Other aliasCX23
HGNC (Hugo) GJE1
LocusID (NCBI) 100126572
Atlas_Id 80606
Location 6q24.1  [Link to chromosome band 6q24]
Location_base_pair Starts at 142133159 and ends at 142134922 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


External links

Nomenclature
HGNC (Hugo)GJE1   33251
Cards
Entrez_Gene (NCBI)GJE1  100126572  gap junction protein epsilon 1
AliasesCX23
GeneCards (Weizmann)GJE1
Ensembl hg19 (Hinxton)ENSG00000203733 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000203733 [Gene_View]  ENSG00000203733 [Sequence]  chr6:142133159-142134922 [Contig_View]  GJE1 [Vega]
ICGC DataPortalENSG00000203733
TCGA cBioPortalGJE1
AceView (NCBI)GJE1
Genatlas (Paris)GJE1
WikiGenes100126572
SOURCE (Princeton)GJE1
Genetics Home Reference (NIH)GJE1
Genomic and cartography
GoldenPath hg38 (UCSC)GJE1  -     chr6:142133159-142134922 +  6q24.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GJE1  -     6q24.1   [Description]    (hg19-Feb_2009)
GoldenPathGJE1 - 6q24.1 [CytoView hg19]  GJE1 - 6q24.1 [CytoView hg38]
ImmunoBaseENSG00000203733
Mapping of homologs : NCBIGJE1 [Mapview hg19]  GJE1 [Mapview hg38]
Gene and transcription
Genbank (Entrez)-
RefSeq transcript (Entrez)NM_001358410
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GJE1
Alternative Splicing GalleryENSG00000203733
Gene ExpressionGJE1 [ NCBI-GEO ]   GJE1 [ EBI - ARRAY_EXPRESS ]   GJE1 [ SEEK ]   GJE1 [ MEM ]
Gene Expression Viewer (FireBrowse)GJE1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)100126572
GTEX Portal (Tissue expression)GJE1
Human Protein AtlasENSG00000203733-GJE1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtA6NN92   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtA6NN92  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProA6NN92
Splice isoforms : SwissVarA6NN92
PhosPhoSitePlusA6NN92
Domains : Interpro (EBI)Connexin    Connexin_CCC    Connexin_N    Connexin_N_sf   
Domain families : Pfam (Sanger)Connexin (PF00029)   
Domain families : Pfam (NCBI)pfam00029   
Domain families : Smart (EMBL)Connexin_CCC (SM01089)  
Conserved Domain (NCBI)GJE1
DMDM Disease mutations100126572
Blocks (Seattle)GJE1
SuperfamilyA6NN92
Human Protein Atlas [tissue]ENSG00000203733-GJE1 [tissue]
Peptide AtlasA6NN92
IPIIPI00743528   
Protein Interaction databases
DIP (DOE-UCLA)A6NN92
IntAct (EBI)A6NN92
FunCoupENSG00000203733
BioGRIDGJE1
STRING (EMBL)GJE1
ZODIACGJE1
Ontologies - Pathways
QuickGOA6NN92
Ontology : AmiGOcell morphogenesis  lens development in camera-type eye  connexin complex  cell communication  integral component of membrane  organ growth  
Ontology : EGO-EBIcell morphogenesis  lens development in camera-type eye  connexin complex  cell communication  integral component of membrane  organ growth  
NDEx NetworkGJE1
Atlas of Cancer Signalling NetworkGJE1
Wikipedia pathwaysGJE1
Orthology - Evolution
OrthoDB100126572
GeneTree (enSembl)ENSG00000203733
Phylogenetic Trees/Animal Genes : TreeFamGJE1
HOGENOMA6NN92
Homologs : HomoloGeneGJE1
Homology/Alignments : Family Browser (UCSC)GJE1
Gene fusions - Rearrangements
Fusion : QuiverGJE1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGJE1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GJE1
dbVarGJE1
ClinVarGJE1
1000_GenomesGJE1 
Exome Variant ServerGJE1
ExAC (Exome Aggregation Consortium)ENSG00000203733
GNOMAD BrowserENSG00000203733
Varsome BrowserGJE1
Genetic variants : HAPMAP100126572
Genomic Variants (DGV)GJE1 [DGVbeta]
DECIPHERGJE1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGJE1 
Mutations
ICGC Data PortalGJE1 
TCGA Data PortalGJE1 
Broad Tumor PortalGJE1
OASIS PortalGJE1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGJE1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DGJE1
Mutations and Diseases : HGMDGJE1
BioMutasearch GJE1
DgiDB (Drug Gene Interaction Database)GJE1
DoCM (Curated mutations)GJE1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GJE1 (select a term)
intoGenGJE1
Cancer3DGJE1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETGJE1
MedgenGJE1
Genetic Testing Registry GJE1
NextProtA6NN92 [Medical]
TSGene100126572
GENETestsGJE1
Target ValidationGJE1
Huge Navigator GJE1 [HugePedia]
snp3D : Map Gene to Disease100126572
BioCentury BCIQGJE1
ClinGenGJE1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD100126572
Chemical/Pharm GKB GenePA164741599
Clinical trialGJE1
Miscellaneous
canSAR (ICR)GJE1 (select the gene name)
DataMed IndexGJE1
Probes
Litterature
PubMed3 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGJE1
EVEXGJE1
GoPubMedGJE1
iHOPGJE1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Sep 3 15:29:43 CEST 2019

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