AutismKB 2.0

Annotation Detail for ABHD12B


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Basic Information Top
Gene Symbol:ABHD12B ( BEM46L3,C14orf29,MGC129926,MGC129927,c14_5314 )
Gene Full Name: abhydrolase domain containing 12B
Band: 14q22.1
Quick LinksEntrez ID:145447; OMIM: NA; Uniprot ID:AB12B_HUMAN; ENSEMBL ID: ENSG00000131969; HGNC ID: 19837
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_181814
  • Location:chr14 50408627-50441436
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP JurkatGSE17954 50390341 50391629 1288 17643
CTCF CD4GSE12889 50397023 50397357 334 11438
CTCF CD4SISSRdata 50397023 50397357 334 11438
hScc1 BcellGSE12603 50393961 50394139 178 14578
hScc1 BcellGSE12603 50396566 50397325 759 11682
hScc1 CdLSGSE12603 50396530 50397389 859 11668
p130 QuiescentGSE19898 50395758 50396402 644 12548
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER MCF7GSE19013 50412023 50412477 454 0
RARG MCF7GSE15244 50419470 50420322 852 0
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