AutismKB 2.0

Annotation Detail for DEFB130


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Basic Information Top
Gene Symbol:DEFB130 ( DEFB-30 )
Gene Full Name: defensin, beta 130
Band: 8p23.1
Quick LinksEntrez ID:245940; OMIM: NA; Uniprot ID:DB130_HUMAN; ENSEMBL ID: ENSG00000232948; HGNC ID:
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_001037804
  • Location:chr8 11959306-11966664
  • strand:-
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 11958454 11959367 913 396
Oct1 H2O2-HelaGSE14283 11946450 11946481 31 12841
Oct1 HelaGSE14283 11946450 11946481 31 12841
RARA MCF7GSE15244 11946125 11946895 770 12797
hScc1 BcellGSE12603 11958693 11959001 308 460
hScc1 CdLSGSE12603 11958693 11959153 460 384
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