AutismKB 2.0

Annotation Detail for DEFB1


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Basic Information Top
Gene Symbol:DEFB1 ( BD1,DEFB-1,DEFB101,HBD1,MGC51822 )
Gene Full Name: defensin, beta 1
Band: 8p23.1
Quick LinksEntrez ID:1672; OMIM: 602056; Uniprot ID:DEFB1_HUMAN; ENSEMBL ID: ENSG00000164825; HGNC ID: 2766
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_005218
  • Location:chr8 6715510-6722938
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 6727796 6727965 169 4942
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF JurkatGSE12889 6703184 6703337 153 12250
CTCF G2GSE9613 6709663 6709994 331 5682
ER Breast-CancerGSE22609 6707314 6708053 739 7827
NRSF pAbJurkat 6708624 6709046 422 6676
Sox2 hESGSE18292 6699159 6699372 213 16245
hScc1 BcellGSE12603 6702800 6703023 223 12599
No data
Validated miRNA targets Top
Cis-Nats regulation Top

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018