AutismKB 2.0

Annotation Detail for DEFB114


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Basic Information Top
Gene Symbol:DEFB114 ( DEFB-14 )
Gene Full Name: defensin, beta 114
Band: 6p12.3
Quick LinksEntrez ID:245928; OMIM: NA; Uniprot ID:DB114_HUMAN; ENSEMBL ID: ENSG00000177684; HGNC ID: 18095
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_001037499
  • Location:chr6 50035964-50039776
  • strand:-
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
TAF k562GSE8489 50016102 50016277 175 19775
No data
Validated miRNA targets Top
Cis-Nats regulation Top

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  (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