AutismKB 2.0

Annotation Detail for DEFB112


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Basic Information Top
Gene Symbol:DEFB112 ( DEFB-12 )
Gene Full Name: defensin, beta 112
Band: 6p12.3
Quick LinksEntrez ID:245915; OMIM: NA; Uniprot ID:DB112_HUMAN; ENSEMBL ID: ENSG00000180872; HGNC ID: 18093
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_001037498
  • Location:chr6 50119247-50124322
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 H2O2-HelaGSE14283 50129231 50129267 36 4927
Oct1 H2O2-HelaGSE14283 50129733 50129760 27 5424
Oct1 HelaGSE14283 50129231 50129266 35 4926
Oct1 HelaGSE14283 50131101 50131141 40 6799
Oct1 HelaGSE14283 50138814 50138849 35 14509
No data
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