AutismKB 2.0

Annotation Detail for DEFB136


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Basic Information Top
Gene Symbol:DEFB136 ( DEFB137 )
Gene Full Name: defensin, beta 136
Band: 8p23.1
Quick LinksEntrez ID:613210; OMIM: NA; Uniprot ID:DB136_HUMAN; ENSEMBL ID: ENSG00000205884; HGNC ID: 34433
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_001033018
  • Location:chr8 11868856-11869516
  • strand:-
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 11853846 11854138 292 14865
CTCF CD4SISSRdata 11853846 11854138 292 14865
CTCF JurkatGSE12889 11853773 11854053 280 14944
CTCF G2GSE9613 11848726 11849076 350 19956
CTCF G2GSE9613 11850353 11850660 307 18350
CTCF G2GSE9613 11852581 11852860 279 16136
CTCF G2GSE9613 11853798 11854102 304 14907
CTCF G2GSE9613 11865271 11866176 905 3133
FOXA1 MCF7GSE15244 11853798 11854000 202 14958
NRSF pAbJurkat 11849406 11849666 260 19321
hScc1 BcellGSE12603 11853798 11854102 304 14907
hScc1 CdLSGSE12603 11853798 11854102 304 14907
hScc1 G2GSE9613 11853798 11854102 304 14907
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