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EFNB1 (ephrin B1)

Identity

Alias_namesEPLG2
CFNS
craniofrontonasal syndrome (craniofrontonasal dysplasia)
ephrin-B1
Alias_symbol (synonym)LERK2
Elk-L
HGNC (Hugo) EFNB1
LocusID (NCBI) 1947
Atlas_Id 40415
Location Xq13.1  [Link to chromosome band Xq13]
Location_base_pair Starts at 68048840 and ends at 68062006 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CLSTN3 (12p13.31) / EFNB1 (Xq13.1)VAV2 (9q34.2) / EFNB1 (Xq13.1)

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)EFNB1   3226
Cards
Entrez_Gene (NCBI)EFNB1  1947  ephrin B1
AliasesCFND; CFNS; EFB1; EFL3; 
EPLG2; Elk-L; LERK2
GeneCards (Weizmann)EFNB1
Ensembl hg19 (Hinxton)ENSG00000090776 [Gene_View]  chrX:68048840-68062006 [Contig_View]  EFNB1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000090776 [Gene_View]  chrX:68048840-68062006 [Contig_View]  EFNB1 [Vega]
ICGC DataPortalENSG00000090776
TCGA cBioPortalEFNB1
AceView (NCBI)EFNB1
Genatlas (Paris)EFNB1
WikiGenes1947
SOURCE (Princeton)EFNB1
Genetics Home Reference (NIH)EFNB1
Genomic and cartography
GoldenPath hg19 (UCSC)EFNB1  -     chrX:68048840-68062006 +  Xq13.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)EFNB1  -     Xq13.1   [Description]    (hg38-Dec_2013)
EnsemblEFNB1 - Xq13.1 [CytoView hg19]  EFNB1 - Xq13.1 [CytoView hg38]
Mapping of homologs : NCBIEFNB1 [Mapview hg19]  EFNB1 [Mapview hg38]
OMIM300035   304110   
Gene and transcription
Genbank (Entrez)AK311197 BC016649 BC052979 BM972960 BU172498
RefSeq transcript (Entrez)NM_004429
RefSeq genomic (Entrez)NC_000023 NC_018934 NG_008887 NT_011651 NW_004929443
Consensus coding sequences : CCDS (NCBI)EFNB1
Cluster EST : UnigeneHs.144700 [ NCBI ]
CGAP (NCI)Hs.144700
Alternative Splicing GalleryENSG00000090776
Gene ExpressionEFNB1 [ NCBI-GEO ]   EFNB1 [ EBI - ARRAY_EXPRESS ]   EFNB1 [ SEEK ]   EFNB1 [ MEM ]
Gene Expression Viewer (FireBrowse)EFNB1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1947
GTEX Portal (Tissue expression)EFNB1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP98172   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP98172  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP98172
Splice isoforms : SwissVarP98172
PhosPhoSitePlusP98172
Domaine pattern : Prosite (Expaxy)EPHRIN_RBD_1 (PS01299)    EPHRIN_RBD_2 (PS51551)   
Domains : Interpro (EBI)Cupredoxin    Ephrin    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)EFNB1
DMDM Disease mutations1947
Blocks (Seattle)EFNB1
SuperfamilyP98172
Human Protein AtlasENSG00000090776
Peptide AtlasP98172
HPRD02072
IPIIPI00024307   IPI00976219   
Protein Interaction databases
DIP (DOE-UCLA)P98172
IntAct (EBI)P98172
FunCoupENSG00000090776
BioGRIDEFNB1
STRING (EMBL)EFNB1
ZODIACEFNB1
Ontologies - Pathways
QuickGOP98172
Ontology : AmiGOneural crest cell migration  protein binding  nucleus  cytoplasm  plasma membrane  integral component of plasma membrane  cell adhesion  cell-cell signaling  axon guidance  embryonic pattern specification  T cell costimulation  positive regulation of T cell proliferation  membrane raft  synapse  ephrin receptor binding  ephrin receptor signaling pathway  ephrin receptor signaling pathway  extracellular exosome  
Ontology : EGO-EBIneural crest cell migration  protein binding  nucleus  cytoplasm  plasma membrane  integral component of plasma membrane  cell adhesion  cell-cell signaling  axon guidance  embryonic pattern specification  T cell costimulation  positive regulation of T cell proliferation  membrane raft  synapse  ephrin receptor binding  ephrin receptor signaling pathway  ephrin receptor signaling pathway  extracellular exosome  
Pathways : KEGGAxon guidance   
NDEx NetworkEFNB1
Atlas of Cancer Signalling NetworkEFNB1
Wikipedia pathwaysEFNB1
Orthology - Evolution
OrthoDB1947
GeneTree (enSembl)ENSG00000090776
Phylogenetic Trees/Animal Genes : TreeFamEFNB1
HOVERGENP98172
HOGENOMP98172
Homologs : HomoloGeneEFNB1
Homology/Alignments : Family Browser (UCSC)EFNB1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEFNB1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EFNB1
dbVarEFNB1
ClinVarEFNB1
1000_GenomesEFNB1 
Exome Variant ServerEFNB1
ExAC (Exome Aggregation Consortium)EFNB1 (select the gene name)
Genetic variants : HAPMAP1947
Genomic Variants (DGV)EFNB1 [DGVbeta]
DECIPHER (Syndromes)X:68048840-68062006  ENSG00000090776
CONAN: Copy Number AnalysisEFNB1 
Mutations
ICGC Data PortalEFNB1 
TCGA Data PortalEFNB1 
Broad Tumor PortalEFNB1
OASIS PortalEFNB1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEFNB1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEFNB1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch EFNB1
DgiDB (Drug Gene Interaction Database)EFNB1
DoCM (Curated mutations)EFNB1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EFNB1 (select a term)
intoGenEFNB1
Cancer3DEFNB1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300035    304110   
Orphanet1687   
MedgenEFNB1
Genetic Testing Registry EFNB1
NextProtP98172 [Medical]
TSGene1947
GENETestsEFNB1
Huge Navigator EFNB1 [HugePedia]
snp3D : Map Gene to Disease1947
BioCentury BCIQEFNB1
ClinGenEFNB1 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1947
Chemical/Pharm GKB GenePA27661
Clinical trialEFNB1
Miscellaneous
canSAR (ICR)EFNB1 (select the gene name)
Probes
Litterature
PubMed81 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEFNB1
EVEXEFNB1
GoPubMedEFNB1
iHOPEFNB1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Nov 18 19:36:25 CET 2016

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