AutismKB 2.0

Annotation Detail for DEFA1B


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Basic Information Top
Gene Symbol:DEFA1B ( DEFA1,HNP-1,HP-1,HP1 )
Gene Full Name: defensin, alpha 1B
Band: 8p23.1
Quick LinksEntrez ID:728358; OMIM: NA; Uniprot ID:DEF1_HUMAN; ENSEMBL ID: ENSG00000215378; HGNC ID: 33596
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
85Phosphotyrosine.
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_004084
  • Location:chr8 6822580-6825011
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 6848646 6849138 492 4771
CTCF G2GSE9613 6852161 6852296 135 8107
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 6803022 6803267 245 19436
CTCF CD4SISSRdata 6803022 6803267 245 19436
CTCF G2GSE9613 6802779 6803509 730 19437
CTCF G2GSE9613 6804909 6805202 293 17525
CTCF G2GSE9613 6834789 6835046 257 6780
CTCF G2GSE9613 6836099 6836236 137 5530
CTCF G2GSE9613 6856512 6856841 329 4124
Oct1 H2O2-HelaGSE14283 6857720 6857755 35 3063
Oct1 HelaGSE14283 6857722 6857754 32 3063
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