EBF1 (EBF transcription factor 1)

2011-09-01  

Identity

HGNC
LOCATION
5q33.3
LOCUSID
ALIAS
COE1,EBF,O/E-1,OLF1
FUSION GENES

Other Information

Locus ID:

NCBI: 1879
MIM: 164343
HGNC: 3126
Ensembl: ENSG00000164330

Variants:

dbSNP: 1879
ClinVar: 1879
TCGA: ENSG00000164330
COSMIC: EBF1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000164330ENST00000313708Q9UH73
ENSG00000164330ENST00000380654Q9UH73
ENSG00000164330ENST00000517373E5RFQ1
ENSG00000164330ENST00000622875A0A087WTE5

Expression (GTEx)

0
10
20
30
40
50
60
70

Pathways

PathwaySourceExternal ID
Developmental BiologyREACTOMER-HSA-1266738
Transcriptional regulation of white adipocyte differentiationREACTOMER-HSA-381340

References

Pubmed IDYearTitleCitations
171018022007Distinct promoters mediate the regulation of Ebf1 gene expression by interleukin-7 and Pax5.66
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
238637472013Meta-analysis of IDH-mutant cancers identifies EBF1 as an interaction partner for TET2.59
216065062011Ebf1 or Pax5 haploinsufficiency synergizes with STAT5 activation to initiate acute lymphoblastic leukemia.55
288770312017Genetic Associations with Gestational Duration and Spontaneous Preterm Birth.45
224739562012Essential role of EBF1 in the generation and function of distinct mature B cell types.39
279185342017Multiethnic genome-wide meta-analysis of ectopic fat depots identifies loci associated with adipocyte development and differentiation.38
208618582011Association of EBF1, FAM167A(C8orf13)-BLK and TNFSF4 gene variants with primary Sjögren's syndrome.35
208618582011Association of EBF1, FAM167A(C8orf13)-BLK and TNFSF4 gene variants with primary Sjögren's syndrome.35
268726342016EBF1-PDGFRB fusion in pediatric B-cell precursor acute lymphoblastic leukemia (BCP-ALL): genetic profile and clinical implications.32

Citation

Dessen P

EBF1 (EBF transcription factor 1)

Atlas Genet Cytogenet Oncol Haematol. 2011-09-01

Online version: http://atlasgeneticsoncology.org/gene/52365/ebf1