Atlas of Genetics and Cytogenetics in Oncology and Haematology


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GJE1 (gap junction protein epsilon 1)

Identity

Alias (NCBI)CX23
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    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
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
Genome Data Viewer NCBIGJE1 [Mapview hg19]  
Gene and transcription
Genbank (Entrez)-
RefSeq transcript (Entrez)NM_001358410
Consensus coding sequences : CCDS (NCBI)GJE1
Gene ExpressionGJE1 [ NCBI-GEO ]   GJE1 [ EBI - ARRAY_EXPRESS ]   GJE1 [ SEEK ]   GJE1 [ MEM ]
Gene Expression Viewer (FireBrowse)GJE1 [ Firebrowse - Broad ]
GenevisibleExpression of GJE1 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
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
SuperfamilyA6NN92
AlphaFold pdb e-kbA6NN92   
Human Protein Atlas [tissue]ENSG00000203733-GJE1 [tissue]
Protein Interaction databases
DIP (DOE-UCLA)A6NN92
IntAct (EBI)A6NN92
BioGRIDGJE1
STRING (EMBL)GJE1
ZODIACGJE1
Ontologies - Pathways
QuickGOA6NN92
Ontology : AmiGOcell morphogenesis  lens development in camera-type eye  gap junction channel activity  connexin complex  cell-cell signaling  integral component of membrane  organ growth  transmembrane transport  
Ontology : EGO-EBIcell morphogenesis  lens development in camera-type eye  gap junction channel activity  connexin complex  cell-cell signaling  integral component of membrane  organ growth  transmembrane transport  
NDEx NetworkGJE1
Atlas of Cancer Signalling NetworkGJE1
Wikipedia pathwaysGJE1
Orthology - Evolution
OrthoDB100126572
GeneTree (enSembl)ENSG00000203733
Phylogenetic Trees/Animal Genes : TreeFamGJE1
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
MonarchGJE1
1000_GenomesGJE1 
Exome Variant ServerGJE1
GNOMAD BrowserENSG00000203733
Varsome BrowserGJE1
ACMGGJE1 variants
VarityA6NN92
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
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaGJE1
DgiDB (Drug Gene Interaction Database)GJE1
DoCM (Curated mutations)GJE1
CIViC (Clinical Interpretations of Variants in Cancer)GJE1
Cancer3DGJE1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETGJE1
MedgenGJE1
Genetic Testing Registry GJE1
NextProtA6NN92 [Medical]
GENETestsGJE1
Target ValidationGJE1
Huge Navigator GJE1 [HugePedia]
ClinGenGJE1
Clinical trials, drugs, therapy
MyCancerGenomeGJE1
Protein Interactions : CTDGJE1
Pharm GKB GenePA164741599
PharosA6NN92
Clinical trialGJE1
Miscellaneous
canSAR (ICR)GJE1
HarmonizomeGJE1
DataMed IndexGJE1
Probes
Litterature
PubMed4 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXGJE1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:51:29 CEST 2021

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