AutismKB 2.0

Annotation Detail for DEFB4A


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Basic Information Top
Gene Symbol:DEFB4A ( DEFB-2,DEFB102,DEFB2,DEFB4,HBD-2,SAP1 )
Gene Full Name: defensin, beta 4A
Band: 8p23.1
Quick LinksEntrez ID:1673; OMIM: 602215; Uniprot ID:DFB4A_HUMAN; ENSEMBL ID: ENSG00000171711; HGNC ID: 2767
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_004942
  • Location:chr8 7789608-7791645
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 7788266 7788775 509 1088
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 7808518 7808729 211 16978
CTCF CD4SISSRdata 7808518 7808729 211 16978
CTCF G2GSE9613 7808465 7808708 243 16941
FOXA1 MCF7GSE15244 7808465 7808708 243 16941
FOXA1 MCF7GSE15244 7811038 7811250 212 19499
hScc1 BcellGSE12603 7808465 7808708 243 16941
hScc1 CdLSGSE12603 7808465 7808708 243 16941
hScc1 G2GSE9613 7808465 7808708 243 16941
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