AutismKB 2.0

Annotation Detail for DEFB103A


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Basic Information Top
Gene Symbol:DEFB103A ( BD-3,DEFB-3,DEFB103,DEFB3,HBD3,HBP-3,HBP3,hBD-3 )
Gene Full Name: defensin, beta 103A
Band: 8p23.1
Quick LinksEntrez ID:414325; OMIM: NA; Uniprot ID:D103A_HUMAN; ENSEMBL ID: ENSG00000176797; HGNC ID: 15967
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_018661
  • Location:chr8 7776135-7777587
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 7280179 7280324 145 4972
Oct1 HelaGSE14283 7281308 7281353 45 6051
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 7269192 7269486 294 4489
CTCF G2GSE9613 7781906 7782198 292 4465
FOXA1 DLD1GSE12801 7263412 7263624 212 10310
FOXA1 MCF7GSE15244 7269192 7269405 213 4529
hScc1 BcellGSE12603 7269192 7269486 294 4489
hScc1 BcellGSE12603 7781906 7782198 292 4465
hScc1 CdLSGSE12603 7269192 7269486 294 4489
hScc1 CdLSGSE12603 7781906 7782198 292 4465
hScc1 G2GSE9613 7269192 7269486 294 4489
hScc1 G2GSE9613 7781906 7782198 292 4465
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