Atlas of Genetics and Cytogenetics in Oncology and Haematology

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EPHB1 (EPH receptor B1)

Identity

Alias (NCBI)ELK
EPHT2
Hek6
NET
HGNC (Hugo) EPHB1
HGNC Alias symbHek6
HGNC Previous nameEPHT2
HGNC Previous nameEphB1
LocusID (NCBI) 2047
Atlas_Id 43245
Location 3q22.2  [Link to chromosome band 3q22]
Location_base_pair Starts at 134795260 and ends at 135260465 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)
PACSIN2 (22q13.2) / EPHB1 (3q22.2)

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)EPHB1   3392
Cards
Entrez_Gene (NCBI)EPHB1  2047  EPH receptor B1
AliasesELK; EPHT2; Hek6; NET
GeneCards (Weizmann)EPHB1
Ensembl hg19 (Hinxton)ENSG00000154928 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000154928 [Gene_View]  ENSG00000154928 [Sequence]  chr3:134795260-135260465 [Contig_View]  EPHB1 [Vega]
ICGC DataPortalENSG00000154928
TCGA cBioPortalEPHB1
AceView (NCBI)EPHB1
Genatlas (Paris)EPHB1
WikiGenes2047
SOURCE (Princeton)EPHB1
Genetics Home Reference (NIH)EPHB1
Genomic and cartography
GoldenPath hg38 (UCSC)EPHB1  -     chr3:134795260-135260465 +  3q22.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EPHB1  -     3q22.2   [Description]    (hg19-Feb_2009)
GoldenPathEPHB1 - 3q22.2 [CytoView hg19]  EPHB1 - 3q22.2 [CytoView hg38]
ImmunoBaseENSG00000154928
genome Data Viewer NCBIEPHB1 [Mapview hg19]  
OMIM600600   
Gene and transcription
Genbank (Entrez)AF037333 AF037334 AK095305 AK291208 AK309741
RefSeq transcript (Entrez)NM_004441
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EPHB1
Alternative Splicing GalleryENSG00000154928
Gene ExpressionEPHB1 [ NCBI-GEO ]   EPHB1 [ EBI - ARRAY_EXPRESS ]   EPHB1 [ SEEK ]   EPHB1 [ MEM ]
Gene Expression Viewer (FireBrowse)EPHB1 [ Firebrowse - Broad ]
GenevisibleExpression of EPHB1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2047
GTEX Portal (Tissue expression)EPHB1
Human Protein AtlasENSG00000154928-EPHB1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP54762   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP54762  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP54762
Splice isoforms : SwissVarP54762
Catalytic activity : Enzyme2.7.10.1 [ Enzyme-Expasy ]   2.7.10.12.7.10.1 [ IntEnz-EBI ]   2.7.10.1 [ BRENDA ]   2.7.10.1 [ KEGG ]   [ MEROPS ]
PhosPhoSitePlusP54762
Domaine pattern : Prosite (Expaxy)EGF_2 (PS01186)    EPH_LBD (PS51550)    FN3 (PS50853)    PROTEIN_KINASE_ATP (PS00107)    PROTEIN_KINASE_DOM (PS50011)    PROTEIN_KINASE_TYR (PS00109)    RECEPTOR_TYR_KIN_V_1 (PS00790)    RECEPTOR_TYR_KIN_V_2 (PS00791)    SAM_DOMAIN (PS50105)   
Domains : Interpro (EBI)Eph_TM    EphB1_rcpt_lig-bd    EphB1_SAM    Ephrin_rcpt_lig-bd_dom    FN3_dom    FN3_sf    Galactose-bd-like_sf    Growth_fac_rcpt_cys_sf    Ig-like_fold    Kinase-like_dom_sf    Prot_kinase_dom    Protein_kinase_ATP_BS    SAM    SAM/pointed_sf    Ser-Thr/Tyr_kinase_cat_dom    Tyr-kin_ephrin_A/B_rcpt-like    Tyr_kinase_AS    Tyr_kinase_cat_dom    Tyr_kinase_ephrin_rcpt    Tyr_kinase_rcpt_V_CS   
Domain families : Pfam (Sanger)EphA2_TM (PF14575)    Ephrin_lbd (PF01404)    fn3 (PF00041)    Pkinase_Tyr (PF07714)    SAM_1 (PF00536)   
Domain families : Pfam (NCBI)pfam14575    pfam01404    pfam00041    pfam07714    pfam00536   
Domain families : Smart (EMBL)EPH_lbd (SM00615)  Ephrin_rec_like (SM01411)  FN3 (SM00060)  SAM (SM00454)  TyrKc (SM00219)  
Conserved Domain (NCBI)EPHB1
DMDM Disease mutations2047
Blocks (Seattle)EPHB1
PDB (RSDB)2DJS    2EAO    3ZFX    5MJA    5MJB   
PDB Europe2DJS    2EAO    3ZFX    5MJA    5MJB   
PDB (PDBSum)2DJS    2EAO    3ZFX    5MJA    5MJB   
PDB (IMB)2DJS    2EAO    3ZFX    5MJA    5MJB   
Structural Biology KnowledgeBase2DJS    2EAO    3ZFX    5MJA    5MJB   
SCOP (Structural Classification of Proteins)2DJS    2EAO    3ZFX    5MJA    5MJB   
CATH (Classification of proteins structures)2DJS    2EAO    3ZFX    5MJA    5MJB   
SuperfamilyP54762
Human Protein Atlas [tissue]ENSG00000154928-EPHB1 [tissue]
Peptide AtlasP54762
HPRD02790
IPIIPI00008315   IPI00947175   IPI00903258   IPI00219245   IPI00947014   IPI01019028   IPI00945114   
Protein Interaction databases
DIP (DOE-UCLA)P54762
IntAct (EBI)P54762
FunCoupENSG00000154928
BioGRIDEPHB1
STRING (EMBL)EPHB1
ZODIACEPHB1
Ontologies - Pathways
QuickGOP54762
Ontology : AmiGOangiogenesis  immunological synapse formation  transmembrane receptor protein tyrosine kinase activity  transmembrane-ephrin receptor activity  transmembrane-ephrin receptor activity  protein binding  ATP binding  extracellular region  endoplasmic reticulum  cytosol  cytosol  plasma membrane  plasma membrane  integral component of plasma membrane  integral component of plasma membrane  transmembrane receptor protein tyrosine kinase signaling pathway  multicellular organism development  axon guidance  axon guidance  axon guidance receptor activity  skeletal muscle satellite cell activation  peptidyl-tyrosine phosphorylation  optic nerve morphogenesis  central nervous system projection neuron axonogenesis  neurogenesis  establishment of cell polarity  axon  dendrite  retinal ganglion cell axon guidance  cell-substrate adhesion  early endosome membrane  filopodium tip  positive regulation of kinase activity  neuron projection  receptor complex  protein-containing complex binding  membrane raft  regulation of JNK cascade  protein autophosphorylation  ephrin receptor signaling pathway  ephrin receptor signaling pathway  camera-type eye morphogenesis  modulation of chemical synaptic transmission  detection of temperature stimulus involved in sensory perception of pain  positive regulation of synapse assembly  cell chemotaxis  dendritic spine development  dendritic spine morphogenesis  neural precursor cell proliferation  extracellular exosome  regulation of ERK1 and ERK2 cascade  glutamatergic synapse  regulation of neuron death  negative regulation of skeletal muscle satellite cell proliferation  negative regulation of satellite cell differentiation  
Ontology : EGO-EBIangiogenesis  immunological synapse formation  transmembrane receptor protein tyrosine kinase activity  transmembrane-ephrin receptor activity  transmembrane-ephrin receptor activity  protein binding  ATP binding  extracellular region  endoplasmic reticulum  cytosol  cytosol  plasma membrane  plasma membrane  integral component of plasma membrane  integral component of plasma membrane  transmembrane receptor protein tyrosine kinase signaling pathway  multicellular organism development  axon guidance  axon guidance  axon guidance receptor activity  skeletal muscle satellite cell activation  peptidyl-tyrosine phosphorylation  optic nerve morphogenesis  central nervous system projection neuron axonogenesis  neurogenesis  establishment of cell polarity  axon  dendrite  retinal ganglion cell axon guidance  cell-substrate adhesion  early endosome membrane  filopodium tip  positive regulation of kinase activity  neuron projection  receptor complex  protein-containing complex binding  membrane raft  regulation of JNK cascade  protein autophosphorylation  ephrin receptor signaling pathway  ephrin receptor signaling pathway  camera-type eye morphogenesis  modulation of chemical synaptic transmission  detection of temperature stimulus involved in sensory perception of pain  positive regulation of synapse assembly  cell chemotaxis  dendritic spine development  dendritic spine morphogenesis  neural precursor cell proliferation  extracellular exosome  regulation of ERK1 and ERK2 cascade  glutamatergic synapse  regulation of neuron death  negative regulation of skeletal muscle satellite cell proliferation  negative regulation of satellite cell differentiation  
Pathways : KEGGAxon guidance   
NDEx NetworkEPHB1
Atlas of Cancer Signalling NetworkEPHB1
Wikipedia pathwaysEPHB1
Orthology - Evolution
OrthoDB2047
GeneTree (enSembl)ENSG00000154928
Phylogenetic Trees/Animal Genes : TreeFamEPHB1
HOGENOMP54762
Homologs : HomoloGeneEPHB1
Homology/Alignments : Family Browser (UCSC)EPHB1
Gene fusions - Rearrangements
Fusion : QuiverEPHB1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEPHB1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EPHB1
dbVarEPHB1
ClinVarEPHB1
MonarchEPHB1
1000_GenomesEPHB1 
Exome Variant ServerEPHB1
GNOMAD BrowserENSG00000154928
Varsome BrowserEPHB1
Genetic variants : HAPMAP2047
Genomic Variants (DGV)EPHB1 [DGVbeta]
DECIPHEREPHB1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEPHB1 
Mutations
ICGC Data PortalEPHB1 
TCGA Data PortalEPHB1 
Broad Tumor PortalEPHB1
OASIS PortalEPHB1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEPHB1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DEPHB1
Mutations and Diseases : HGMDEPHB1
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 EPHB1
DgiDB (Drug Gene Interaction Database)EPHB1
DoCM (Curated mutations)EPHB1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EPHB1 (select a term)
intoGenEPHB1
Cancer3DEPHB1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600600   
Orphanet
DisGeNETEPHB1
MedgenEPHB1
Genetic Testing Registry EPHB1
NextProtP54762 [Medical]
TSGene2047
GENETestsEPHB1
Target ValidationEPHB1
Huge Navigator EPHB1 [HugePedia]
snp3D : Map Gene to Disease2047
BioCentury BCIQEPHB1
ClinGenEPHB1
Clinical trials, drugs, therapy
Protein Interactions : CTD2047
Pharm GKB GenePA27824
Clinical trialEPHB1
Miscellaneous
canSAR (ICR)EPHB1 (select the gene name)
HarmonizomeEPHB1
DataMed IndexEPHB1
Probes
Litterature
PubMed73 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEPHB1
EVEXEPHB1
GoPubMedEPHB1
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 : Mon Sep 14 14:10:17 CEST 2020
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