AutismKB 2.0

Annotation Detail for ABHD14A


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Basic Information Top
Gene Symbol:ABHD14A ( DKFZp564O243,DORZ1,FLJ60317,FLJ60467 )
Gene Full Name: abhydrolase domain containing 14A
Band: 3p21.2
Quick LinksEntrez ID:25864; OMIM: NA; Uniprot ID:ABHEA_HUMAN; ENSEMBL ID: ENSG00000114786; HGNC ID: 24538
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
67N-linked (GlcNAc...) (Potential).
201N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
67N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
201N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
28Phosphothreonine(PKC)HMM predict
33Phosphoserine(ATM)HMM predict
67N-linkedHMM predict
75Phosphothreonine(MAPK)HMM predict
140Phosphoserine(CK1)HMM predict
197O-linkedHMM predict
199O-linkedHMM predict
201N-linkedHMM predict
238N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_015407
  • Location:chr3 51984123-51990249
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 51982867 51984356 1489 512
H3ac HepG2E 51983310 51983988 678 475
PHF8 HeLaGSE20725 51982385 51984852 2467 505
hScc1 BcellGSE12603 51983080 51984332 1252 418
hScc1 G2GSE9613 51982971 51984356 1385 460
No data
No data
Validated miRNA targets Top
Cis-Nats regulation Top

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  (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