AutismKB 2.0

Annotation Detail for DEFB134


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Basic Information Top
Gene Symbol:DEFB134 ( MGC163333,MGC163335 )
Gene Full Name: defensin, beta 134
Band: 8p23.1
Quick LinksEntrez ID:613211; OMIM: NA; Uniprot ID:DB134_HUMAN; ENSEMBL ID: ENSG00000205882; HGNC ID: 32399
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_001033019
  • Location:chr8 11888898-11891168
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 11910030 11910209 179 18951
CTCF CD4SISSRdata 11910030 11910209 179 18951
CTCF HelaGSE12889 11910076 11910209 133 18974
CTCF G2GSE9613 11908369 11908661 292 17347
CTCF G2GSE9613 11909016 11911591 2575 19135
FOXA1 MCF7GSE15244 11910301 11911383 1082 19674
H3K27me3 colorectalcancer 11910274 11911591 1317 19764
RARG MCF7GSE15244 11905063 11905594 531 14160
hScc1 BcellGSE12603 11904384 11905263 879 13655
hScc1 BcellGSE12603 11909150 11911591 2441 19202
hScc1 CdLSGSE12603 11909490 11910597 1107 18875
hScc1 G2GSE9613 11909186 11911011 1825 18930
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER Fulvestrant-MCF7GSE14664 11885298 11885374 76 3563
Oct1 H2O2-HelaGSE14283 11887278 11887307 29 1606
Oct1 HelaGSE14283 11887256 11887316 60 1613
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