Atlas of Genetics and Cytogenetics in Oncology and Haematology

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EFNB3 (ephrin B3)

Identity

Alias_namesEPLG8
ephrin-B3
Alias_symbol (synonym)LERK-8
Other aliasEFL6
LERK8
HGNC (Hugo) EFNB3
LocusID (NCBI) 1949
Atlas_Id 46244
Location 17p13.1  [Link to chromosome band 17p13]
Location_base_pair Starts at 7705202 and ends at 7711375 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)
HOMER1 (5q14.1) / EFNB3 (17p13.1)PDGFRA (4q12) / EFNB3 (17p13.1)

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)EFNB3   3228
Cards
Entrez_Gene (NCBI)EFNB3  1949  ephrin B3
AliasesEFL6; EPLG8; LERK8
GeneCards (Weizmann)EFNB3
Ensembl hg19 (Hinxton)ENSG00000108947 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000108947 [Gene_View]  ENSG00000108947 [Sequence]  chr17:7705202-7711375 [Contig_View]  EFNB3 [Vega]
ICGC DataPortalENSG00000108947
TCGA cBioPortalEFNB3
AceView (NCBI)EFNB3
Genatlas (Paris)EFNB3
WikiGenes1949
SOURCE (Princeton)EFNB3
Genetics Home Reference (NIH)EFNB3
Genomic and cartography
GoldenPath hg38 (UCSC)EFNB3  -     chr17:7705202-7711375 +  17p13.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EFNB3  -     17p13.1   [Description]    (hg19-Feb_2009)
GoldenPathEFNB3 - 17p13.1 [CytoView hg19]  EFNB3 - 17p13.1 [CytoView hg38]
ImmunoBaseENSG00000108947
Mapping of homologs : NCBIEFNB3 [Mapview hg19]  EFNB3 [Mapview hg38]
OMIM602297   
Gene and transcription
Genbank (Entrez)AI346983 AK027329 AK314841 BC022499 BC042944
RefSeq transcript (Entrez)NM_001406
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EFNB3
Cluster EST : UnigeneHs.26988 [ NCBI ]
CGAP (NCI)Hs.26988
Alternative Splicing GalleryENSG00000108947
Gene ExpressionEFNB3 [ NCBI-GEO ]   EFNB3 [ EBI - ARRAY_EXPRESS ]   EFNB3 [ SEEK ]   EFNB3 [ MEM ]
Gene Expression Viewer (FireBrowse)EFNB3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1949
GTEX Portal (Tissue expression)EFNB3
Human Protein AtlasENSG00000108947-EFNB3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ15768   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ15768  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ15768
Splice isoforms : SwissVarQ15768
PhosPhoSitePlusQ15768
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)EFNB3
DMDM Disease mutations1949
Blocks (Seattle)EFNB3
PDB (RSDB)4BKF   
PDB Europe4BKF   
PDB (PDBSum)4BKF   
PDB (IMB)4BKF   
Structural Biology KnowledgeBase4BKF   
SCOP (Structural Classification of Proteins)4BKF   
CATH (Classification of proteins structures)4BKF   
SuperfamilyQ15768
Human Protein Atlas [tissue]ENSG00000108947-EFNB3 [tissue]
Peptide AtlasQ15768
HPRD03804
IPIIPI00019501   
Protein Interaction databases
DIP (DOE-UCLA)Q15768
IntAct (EBI)Q15768
FunCoupENSG00000108947
BioGRIDEFNB3
STRING (EMBL)EFNB3
ZODIACEFNB3
Ontologies - Pathways
QuickGOQ15768
Ontology : AmiGOvirus receptor activity  transmembrane-ephrin receptor activity  plasma membrane  plasma membrane  plasma membrane  integral component of plasma membrane  cell-cell signaling  nervous system development  axon guidance  adult walking behavior  axon choice point recognition  T cell costimulation  viral entry into host cell  ephrin receptor binding  ephrin receptor binding  ephrin receptor signaling pathway  ephrin receptor signaling pathway  ephrin receptor signaling pathway  negative regulation of axonogenesis  hippocampal mossy fiber to CA3 synapse  glutamatergic synapse  integral component of presynaptic membrane  integral component of postsynaptic density membrane  trans-synaptic signaling by trans-synaptic complex, modulating synaptic transmission  
Ontology : EGO-EBIvirus receptor activity  transmembrane-ephrin receptor activity  plasma membrane  plasma membrane  plasma membrane  integral component of plasma membrane  cell-cell signaling  nervous system development  axon guidance  adult walking behavior  axon choice point recognition  T cell costimulation  viral entry into host cell  ephrin receptor binding  ephrin receptor binding  ephrin receptor signaling pathway  ephrin receptor signaling pathway  ephrin receptor signaling pathway  negative regulation of axonogenesis  hippocampal mossy fiber to CA3 synapse  glutamatergic synapse  integral component of presynaptic membrane  integral component of postsynaptic density membrane  trans-synaptic signaling by trans-synaptic complex, modulating synaptic transmission  
Pathways : KEGGAxon guidance   
NDEx NetworkEFNB3
Atlas of Cancer Signalling NetworkEFNB3
Wikipedia pathwaysEFNB3
Orthology - Evolution
OrthoDB1949
GeneTree (enSembl)ENSG00000108947
Phylogenetic Trees/Animal Genes : TreeFamEFNB3
HOGENOMQ15768
Homologs : HomoloGeneEFNB3
Homology/Alignments : Family Browser (UCSC)EFNB3
Gene fusions - Rearrangements
Fusion : QuiverEFNB3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEFNB3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EFNB3
dbVarEFNB3
ClinVarEFNB3
1000_GenomesEFNB3 
Exome Variant ServerEFNB3
ExAC (Exome Aggregation Consortium)ENSG00000108947
GNOMAD BrowserENSG00000108947
Varsome BrowserEFNB3
Genetic variants : HAPMAP1949
Genomic Variants (DGV)EFNB3 [DGVbeta]
DECIPHEREFNB3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEFNB3 
Mutations
ICGC Data PortalEFNB3 
TCGA Data PortalEFNB3 
Broad Tumor PortalEFNB3
OASIS PortalEFNB3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEFNB3  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DEFNB3
Mutations and Diseases : HGMDEFNB3
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 EFNB3
DgiDB (Drug Gene Interaction Database)EFNB3
DoCM (Curated mutations)EFNB3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EFNB3 (select a term)
intoGenEFNB3
Cancer3DEFNB3(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602297   
Orphanet
DisGeNETEFNB3
MedgenEFNB3
Genetic Testing Registry EFNB3
NextProtQ15768 [Medical]
TSGene1949
GENETestsEFNB3
Target ValidationEFNB3
Huge Navigator EFNB3 [HugePedia]
snp3D : Map Gene to Disease1949
BioCentury BCIQEFNB3
ClinGenEFNB3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1949
Chemical/Pharm GKB GenePA27663
Clinical trialEFNB3
Miscellaneous
canSAR (ICR)EFNB3 (select the gene name)
DataMed IndexEFNB3
Probes
Litterature
PubMed42 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEFNB3
EVEXEFNB3
GoPubMedEFNB3
iHOPEFNB3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Wed Nov 13 17:41:33 CET 2019
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