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EBF1 (early B-cell factor 1)

Identity

Alias_namesEBF
early B-cell factor
Alias_symbol (synonym)OLF1
Other aliasCOE1
O/E-1
HGNC (Hugo) EBF1
LocusID (NCBI) 1879
Atlas_Id 52365
Location 5q33.3  [Link to chromosome band 5q33]
Location_base_pair Starts at 158122923 and ends at 158526788 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
COL6A3 (2q37.3) / EBF1 (5q33.3)EBF1 (5q33.3) / ACTG1 (17q25.3)EBF1 (5q33.3) / CAPZA1 (1p13.2)
EBF1 (5q33.3) / EBF1 (5q33.3)EBF1 (5q33.3) / HMGA2 (12q14.3)EBF1 (5q33.3) / PDGFRB (5q32)
EBF1 (5q33.3) / RPSAP52 (12q14.3)EBF1 (5q33.3) / SCAF1 (19q13.33)HMGA2 (12q14.3) / EBF1 (5q33.3)
IGH (14q32.33) / EBF1 (5q33.3)RPSAP52 (12q14.3) / EBF1 (5q33.3)TADA1 (1q24.1) / EBF1 (5q33.3)
TNS3 (7p12.3) / EBF1 (5q33.3)HMGA2 12q14.3 / EBF1 5q33.3

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

 


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  del(5)(q32q33) EBF1/PDGFRB


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  Soft Tissues: Lipoma / benign lipomatous tumors
Soft tissue tumors: an overview


External links

Nomenclature
HGNC (Hugo)EBF1   3126
Cards
Entrez_Gene (NCBI)EBF1  1879  early B-cell factor 1
AliasesCOE1; EBF; O/E-1; OLF1
GeneCards (Weizmann)EBF1
Ensembl hg19 (Hinxton)ENSG00000164330 [Gene_View]  chr5:158122923-158526788 [Contig_View]  EBF1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000164330 [Gene_View]  chr5:158122923-158526788 [Contig_View]  EBF1 [Vega]
ICGC DataPortalENSG00000164330
TCGA cBioPortalEBF1
AceView (NCBI)EBF1
Genatlas (Paris)EBF1
WikiGenes1879
SOURCE (Princeton)EBF1
Genetics Home Reference (NIH)EBF1
Genomic and cartography
GoldenPath hg19 (UCSC)EBF1  -     chr5:158122923-158526788 -  5q33.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)EBF1  -     5q33.3   [Description]    (hg38-Dec_2013)
EnsemblEBF1 - 5q33.3 [CytoView hg19]  EBF1 - 5q33.3 [CytoView hg38]
Mapping of homologs : NCBIEBF1 [Mapview hg19]  EBF1 [Mapview hg38]
OMIM164343   
Gene and transcription
Genbank (Entrez)AF208502 AK096708 AK123757 AK289712 AK303698
RefSeq transcript (Entrez)NM_001290360 NM_024007 NM_182708
RefSeq genomic (Entrez)NC_000005 NC_018916 NT_023133 NW_004929325
Consensus coding sequences : CCDS (NCBI)EBF1
Cluster EST : UnigeneHs.573143 [ NCBI ]
CGAP (NCI)Hs.573143
Alternative Splicing GalleryENSG00000164330
Gene ExpressionEBF1 [ NCBI-GEO ]   EBF1 [ EBI - ARRAY_EXPRESS ]   EBF1 [ SEEK ]   EBF1 [ MEM ]
Gene Expression Viewer (FireBrowse)EBF1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1879
GTEX Portal (Tissue expression)EBF1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UH73   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UH73  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UH73
Splice isoforms : SwissVarQ9UH73
PhosPhoSitePlusQ9UH73
Domaine pattern : Prosite (Expaxy)COE (PS01345)   
Domains : Interpro (EBI)bHLH_dom    COE_DBD    COE_HLH    Ig-like_fold    Ig_E-set    IPT    Transcription_factor_COE    Transcription_factor_COE_CS   
Domain families : Pfam (Sanger)COE1_DBD (PF16422)    COE1_HLH (PF16423)    TIG (PF01833)   
Domain families : Pfam (NCBI)pfam16422    pfam16423    pfam01833   
Domain families : Smart (EMBL)HLH (SM00353)  IPT (SM00429)  
Conserved Domain (NCBI)EBF1
DMDM Disease mutations1879
Blocks (Seattle)EBF1
PDB (SRS)3LYR    3MQI   
PDB (PDBSum)3LYR    3MQI   
PDB (IMB)3LYR    3MQI   
PDB (RSDB)3LYR    3MQI   
Structural Biology KnowledgeBase3LYR    3MQI   
SCOP (Structural Classification of Proteins)3LYR    3MQI   
CATH (Classification of proteins structures)3LYR    3MQI   
SuperfamilyQ9UH73
Human Protein AtlasENSG00000164330
Peptide AtlasQ9UH73
HPRD01256
IPIIPI00329425   IPI00383432   IPI00974035   
Protein Interaction databases
DIP (DOE-UCLA)Q9UH73
IntAct (EBI)Q9UH73
FunCoupENSG00000164330
BioGRIDEBF1
STRING (EMBL)EBF1
ZODIACEBF1
Ontologies - Pathways
QuickGOQ9UH73
Ontology : AmiGOtranscriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  DNA binding  protein binding  nucleus  transcription from RNA polymerase II promoter  multicellular organism development  positive regulation of transcription from RNA polymerase II promoter  metal ion binding  C2H2 zinc finger domain binding  
Ontology : EGO-EBItranscriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  DNA binding  protein binding  nucleus  transcription from RNA polymerase II promoter  multicellular organism development  positive regulation of transcription from RNA polymerase II promoter  metal ion binding  C2H2 zinc finger domain binding  
NDEx NetworkEBF1
Atlas of Cancer Signalling NetworkEBF1
Wikipedia pathwaysEBF1
Orthology - Evolution
OrthoDB1879
GeneTree (enSembl)ENSG00000164330
Phylogenetic Trees/Animal Genes : TreeFamEBF1
HOVERGENQ9UH73
HOGENOMQ9UH73
Homologs : HomoloGeneEBF1
Homology/Alignments : Family Browser (UCSC)EBF1
Gene fusions - Rearrangements
Fusion : MitelmanEBF1/PDGFRB [5q33.3/5q32]  
Fusion : MitelmanEBF1/RPSAP52 [5q33.3/12q14.3]  [t(5;12)(q33;q14)]  
Fusion : MitelmanHMGA2/EBF1 [12q14.3/5q33.3]  [t(5;12)(q33;q14)]  
Fusion : MitelmanIGH/EBF1 [14q32.33/5q33.3]  [t(5;14)(q33;q32)]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEBF1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EBF1
dbVarEBF1
ClinVarEBF1
1000_GenomesEBF1 
Exome Variant ServerEBF1
ExAC (Exome Aggregation Consortium)EBF1 (select the gene name)
Genetic variants : HAPMAP1879
Genomic Variants (DGV)EBF1 [DGVbeta]
DECIPHER (Syndromes)5:158122923-158526788  ENSG00000164330
CONAN: Copy Number AnalysisEBF1 
Mutations
ICGC Data PortalEBF1 
TCGA Data PortalEBF1 
Broad Tumor PortalEBF1
OASIS PortalEBF1 [ Somatic mutations - Copy number]
Cancer Gene: CensusEBF1 
Somatic Mutations in Cancer : COSMICEBF1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEBF1
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
LOVD (Leiden Open Variation Database)TBsLVD Tuberculosis susceptibility Locus Variation Database
BioMutasearch EBF1
DgiDB (Drug Gene Interaction Database)EBF1
DoCM (Curated mutations)EBF1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EBF1 (select a term)
intoGenEBF1
Cancer3DEBF1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM164343   
Orphanet
MedgenEBF1
Genetic Testing Registry EBF1
NextProtQ9UH73 [Medical]
TSGene1879
GENETestsEBF1
Huge Navigator EBF1 [HugePedia]
snp3D : Map Gene to Disease1879
BioCentury BCIQEBF1
ClinGenEBF1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1879
Chemical/Pharm GKB GenePA162384225
Clinical trialEBF1
Miscellaneous
canSAR (ICR)EBF1 (select the gene name)
Probes
Litterature
PubMed46 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEBF1
EVEXEBF1
GoPubMedEBF1
iHOPEBF1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Mar 14 13:04:09 CET 2017

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