AutismKB 2.0

Annotation Detail for DEFA4


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Basic Information Top
Gene Symbol:DEFA4 ( DEF4,HNP-4,HP-4,HP4,MGC120099,MGC138296 )
Gene Full Name: defensin, alpha 4, corticostatin
Band: 8p23.1
Quick LinksEntrez ID:1669; OMIM: 601157; Uniprot ID:DEF4_HUMAN; ENSEMBL ID: ENSG00000164821; HGNC ID: 2763
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_001925
  • Location:chr8 6780754-6783195
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 6789152 6789536 384 6149
CTCF G2GSE9613 6790473 6790622 149 7352
CTCF G2GSE9613 6794443 6794902 459 11477
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 6779673 6780126 453 855
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
NRSF-mono JurkatQuESTdata 6780882 6781151 269 0
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