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EFNA1 (ephrin A1)

Identity

Alias_namesTNFAIP4
EPLG1
ephrin-A1
Alias_symbol (synonym)LERK1
ECKLG
Other aliasB61
EFL1
LERK-1
HGNC (Hugo) EFNA1
LocusID (NCBI) 1942
Atlas_Id 40412
Location 1q22  [Link to chromosome band 1q22]
Location_base_pair Starts at 155127873 and ends at 155134910 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)
EFNA1 (1q22) / BRD2 (6p21.32)

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)EFNA1   3221
Cards
Entrez_Gene (NCBI)EFNA1  1942  ephrin A1
AliasesB61; ECKLG; EFL1; EPLG1; 
LERK-1; LERK1; TNFAIP4
GeneCards (Weizmann)EFNA1
Ensembl hg19 (Hinxton)ENSG00000169242 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000169242 [Gene_View]  ENSG00000169242 [Sequence]  chr1:155127873-155134910 [Contig_View]  EFNA1 [Vega]
ICGC DataPortalENSG00000169242
TCGA cBioPortalEFNA1
AceView (NCBI)EFNA1
Genatlas (Paris)EFNA1
WikiGenes1942
SOURCE (Princeton)EFNA1
Genetics Home Reference (NIH)EFNA1
Genomic and cartography
GoldenPath hg38 (UCSC)EFNA1  -     chr1:155127873-155134910 +  1q22   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EFNA1  -     1q22   [Description]    (hg19-Feb_2009)
EnsemblEFNA1 - 1q22 [CytoView hg19]  EFNA1 - 1q22 [CytoView hg38]
Mapping of homologs : NCBIEFNA1 [Mapview hg19]  EFNA1 [Mapview hg38]
OMIM191164   
Gene and transcription
Genbank (Entrez)AK057845 AK289589 AK308965 AK311677 AK313117
RefSeq transcript (Entrez)NM_004428 NM_182685
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EFNA1
Cluster EST : UnigeneHs.630847 [ NCBI ]
CGAP (NCI)Hs.630847
Alternative Splicing GalleryENSG00000169242
Gene ExpressionEFNA1 [ NCBI-GEO ]   EFNA1 [ EBI - ARRAY_EXPRESS ]   EFNA1 [ SEEK ]   EFNA1 [ MEM ]
Gene Expression Viewer (FireBrowse)EFNA1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1942
GTEX Portal (Tissue expression)EFNA1
Human Protein AtlasENSG00000169242-EFNA1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP20827   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP20827  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP20827
Splice isoforms : SwissVarP20827
PhosPhoSitePlusP20827
Domaine pattern : Prosite (Expaxy)EPHRIN_RBD_1 (PS01299)    EPHRIN_RBD_2 (PS51551)   
Domains : Interpro (EBI)Cupredoxin    Ephrin    Ephrin-A_Ecto    Ephrin_CS    Ephrin_RBD   
Domain families : Pfam (Sanger)Ephrin (PF00812)   
Domain families : Pfam (NCBI)pfam00812   
Domain structure : Prodom (Prabi Lyon)Ephrin (PD002533)   
Conserved Domain (NCBI)EFNA1
DMDM Disease mutations1942
Blocks (Seattle)EFNA1
PDB (SRS)3CZU    3HEI    3MBW   
PDB (PDBSum)3CZU    3HEI    3MBW   
PDB (IMB)3CZU    3HEI    3MBW   
PDB (RSDB)3CZU    3HEI    3MBW   
Structural Biology KnowledgeBase3CZU    3HEI    3MBW   
SCOP (Structural Classification of Proteins)3CZU    3HEI    3MBW   
CATH (Classification of proteins structures)3CZU    3HEI    3MBW   
SuperfamilyP20827
Human Protein Atlas [tissue]ENSG00000169242-EFNA1 [tissue]
Peptide AtlasP20827
HPRD01858
IPIIPI00025840   IPI00377015   IPI00921580   
Protein Interaction databases
DIP (DOE-UCLA)P20827
IntAct (EBI)P20827
FunCoupENSG00000169242
BioGRIDEFNA1
STRING (EMBL)EFNA1
ZODIACEFNA1
Ontologies - Pathways
QuickGOP20827
Ontology : AmiGOnegative regulation of transcription by RNA polymerase II  angiogenesis  positive regulation of protein phosphorylation  aortic valve morphogenesis  mitral valve morphogenesis  endocardial cushion to mesenchymal transition involved in heart valve formation  receptor binding  protein binding  plasma membrane  plasma membrane  integral component of plasma membrane  cell-cell signaling  axon guidance  negative regulation of epithelial to mesenchymal transition  notochord formation  cell migration  regulation of cell adhesion mediated by integrin  substrate adhesion-dependent cell spreading  negative regulation of MAPK cascade  positive regulation of MAPK cascade  regulation of blood vessel endothelial cell migration  regulation of angiogenesis  anchored component of plasma membrane  ephrin receptor binding  ephrin receptor signaling pathway  ephrin receptor signaling pathway  ephrin receptor signaling pathway  regulation of peptidyl-tyrosine phosphorylation  positive regulation of peptidyl-tyrosine phosphorylation  regulation of axonogenesis  protein stabilization  negative regulation of dendritic spine morphogenesis  positive regulation of protein tyrosine kinase activity  extracellular exosome  negative regulation of thymocyte apoptotic process  positive regulation of amyloid-beta formation  positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process  negative regulation of proteolysis involved in cellular protein catabolic process  
Ontology : EGO-EBInegative regulation of transcription by RNA polymerase II  angiogenesis  positive regulation of protein phosphorylation  aortic valve morphogenesis  mitral valve morphogenesis  endocardial cushion to mesenchymal transition involved in heart valve formation  receptor binding  protein binding  plasma membrane  plasma membrane  integral component of plasma membrane  cell-cell signaling  axon guidance  negative regulation of epithelial to mesenchymal transition  notochord formation  cell migration  regulation of cell adhesion mediated by integrin  substrate adhesion-dependent cell spreading  negative regulation of MAPK cascade  positive regulation of MAPK cascade  regulation of blood vessel endothelial cell migration  regulation of angiogenesis  anchored component of plasma membrane  ephrin receptor binding  ephrin receptor signaling pathway  ephrin receptor signaling pathway  ephrin receptor signaling pathway  regulation of peptidyl-tyrosine phosphorylation  positive regulation of peptidyl-tyrosine phosphorylation  regulation of axonogenesis  protein stabilization  negative regulation of dendritic spine morphogenesis  positive regulation of protein tyrosine kinase activity  extracellular exosome  negative regulation of thymocyte apoptotic process  positive regulation of amyloid-beta formation  positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process  negative regulation of proteolysis involved in cellular protein catabolic process  
Pathways : KEGGAxon guidance   
NDEx NetworkEFNA1
Atlas of Cancer Signalling NetworkEFNA1
Wikipedia pathwaysEFNA1
Orthology - Evolution
OrthoDB1942
GeneTree (enSembl)ENSG00000169242
Phylogenetic Trees/Animal Genes : TreeFamEFNA1
HOVERGENP20827
HOGENOMP20827
Homologs : HomoloGeneEFNA1
Homology/Alignments : Family Browser (UCSC)EFNA1
Gene fusions - Rearrangements
Fusion : QuiverEFNA1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEFNA1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EFNA1
dbVarEFNA1
ClinVarEFNA1
1000_GenomesEFNA1 
Exome Variant ServerEFNA1
ExAC (Exome Aggregation Consortium)ENSG00000169242
GNOMAD BrowserENSG00000169242
Genetic variants : HAPMAP1942
Genomic Variants (DGV)EFNA1 [DGVbeta]
DECIPHEREFNA1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEFNA1 
Mutations
ICGC Data PortalEFNA1 
TCGA Data PortalEFNA1 
Broad Tumor PortalEFNA1
OASIS PortalEFNA1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEFNA1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEFNA1
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 EFNA1
DgiDB (Drug Gene Interaction Database)EFNA1
DoCM (Curated mutations)EFNA1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EFNA1 (select a term)
intoGenEFNA1
Cancer3DEFNA1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM191164   
Orphanet
DisGeNETEFNA1
MedgenEFNA1
Genetic Testing Registry EFNA1
NextProtP20827 [Medical]
TSGene1942
GENETestsEFNA1
Target ValidationEFNA1
Huge Navigator EFNA1 [HugePedia]
snp3D : Map Gene to Disease1942
BioCentury BCIQEFNA1
ClinGenEFNA1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1942
Chemical/Pharm GKB GenePA27656
Clinical trialEFNA1
Miscellaneous
canSAR (ICR)EFNA1 (select the gene name)
Probes
Litterature
PubMed82 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEFNA1
EVEXEFNA1
GoPubMedEFNA1
iHOPEFNA1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Jun 22 16:23:47 CEST 2018

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