AutismKB 2.0

Annotation Detail for DEFB104B


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Basic Information Top
Gene Symbol:DEFB104B ( BD-4,DEFB-4,DEFB104A,hBD-4 )
Gene Full Name: defensin, beta 104B
Band: 8p23.1
Quick LinksEntrez ID:503618; OMIM: NA; Uniprot ID:D104A_HUMAN; ENSEMBL ID: ENSG00000177023; HGNC ID: 26165
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_001040702
  • Location:chr8 7731402-7736172
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3K27me3 colorectalcancer 7319936 7320574 638 242
H3K27me3 colorectalcancer 7323156 7323388 232 3259
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 7312896 7313422 526 2082
CTCF G2GSE9613 7314705 7314935 230 421
CTCF G2GSE9613 7735905 7736664 759 112
CTCF G2GSE9613 7737965 7738739 774 2180
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