AutismKB

Annotation Detail for EBF1


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Basic Information Top
Gene Symbol:EBF1 ( COE1,EBF,FLJ39389,FLJ41763,O/E-1,OLF1 )
Gene Full Name: early B-cell factor 1
Band: 5q34
Quick LinksEntrez ID:1879; OMIM: 164343; Uniprot ID:COE1_HUMAN; ENSEMBL ID: ENSG00000164330
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005634IEA-nucleus-
GO ID Evidence Qualifier GO_term References
GO:0003677IEA-DNA binding-
GO:0003700IEA-sequence-specific DNA binding transcription factor activity-
GO:0046872IEA-metal ion binding-
GO:0070742IEA-C2H2 zinc finger domain binding-
GO ID Evidence Qualifier GO_term References
GO:0006355IEA-regulation of transcription, DNA-dependent-
GO:0007275IEA-multicellular organismal development-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
EBF1CREBBP10821112748286 Affinity Capture-Western; Reconstituted Complex
EBF1CREBBP10777712748286 Affinity Capture-Western; Reconstituted Complex
EBF1EBF11082118497258 Co-purification
ZNF423EBF11082119151733 Affinity Capture-Western; Co-purification
ZNF423EBF11167189151733 Affinity Capture-Western; Co-purification
No data
No data
Genomic Variants Top
Variant ID Location Publication Method/platform Gain Lose Total Frequency Sample Size Genes
Variation_110690 chr5:158110225-158114659 20482838 Paired End Mapping 0 1 1- 1 control sample (J. Craig Venter) EBF1
Variation_106530 chr5:158110893-158113608 20482838 Custom NimbleGen 42M aCGH 0 1 1- 1 control sample (J. Craig Venter) EBF1
Variation_106260 chr5:158110990-158113623 20482838 Custom Agilent 24M aCGH 0 1 1- 1 control sample (J. Craig Venter) EBF1
Variant ID Location Publication Method/platform Gain Lose Total Frequency Sample Size Genes
Variation_60566 chr5:158154824-158154998 19470904 Illumina DNA sequencing 1 0 1- 1 male Korean individual, SJK EBF1
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:95275
  • Data Attributes: MGI curated and HomoloGene calculated
MGI Allele ID Allele Symbol Allele Source Allele Type / Mutant Cell line ID
MGI:1928729Ebf1[tm1Rug]Allele from Mouse Targeted (knock-out)
  • nervous system phenotype
  • liver/biliary system phenotype
  • limbs/digits/tail phenotype
  • adipose tissue phenotype
  • growth/size phenotype
  • immune system phenotype
  • skeleton phenotype
  • hematopoietic system phenotype