AutismKB 2.0

Annotation Detail for DEFA5


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Basic Information Top
Gene Symbol:DEFA5 ( DEF5,HD-5,MGC129728 )
Gene Full Name: defensin, alpha 5, Paneth cell-specific
Band: 8p23.1
Quick LinksEntrez ID:1670; OMIM: 600472; Uniprot ID:DEF5_HUMAN; ENSEMBL ID: ENSG00000164816; HGNC ID: 2764
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_021010
  • Location:chr8 6900238-6901668
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
TFAP2C MCF7GSE21234 6916879 6917258 379 15400
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 6886093 6886415 322 13985
CTCF G2GSE9613 6887059 6887409 350 13005
CTCF G2GSE9613 6888194 6888445 251 11919
NRSF pAbJurkat 6888270 6888539 269 11834
Oct1 H2O2-HelaGSE14283 6887402 6887430 28 12823
hScc1 BcellGSE12603 6882312 6882489 177 17838
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