AutismKB 2.0

Annotation Detail for ABAT


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Basic Information Top
Gene Symbol:ABAT ( FLJ17813,FLJ30272,GABA-AT,GABAT,NPD009 )
Gene Full Name: 4-aminobutyrate aminotransferase
Band: 16p13.2
Quick LinksEntrez ID:18; OMIM: 137150; Uniprot ID:GABT_HUMAN; ENSEMBL ID: ENSG00000183044; HGNC ID: 23
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
318N6-acetyllysine (By similarity).
357N6-(pyridoxal phosphate)lysine.
Location(AA) Modifications Resource
318N6-acetyllysine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
29Phosphoserine(PKA)HMM predict
29Phosphoserine(PKG)HMM predict
29Phosphoserine(ATM)HMM predict
55Phosphoserine(IKK)HMM predict
165Phosphoserine(IKK)HMM predict
190Phosphoserine(ATM)HMM predict
477Phosphothreonine(PKA)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000663
  • Location:chr16 8714449-8785931
  • strand:+
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER MCF7GSE19013 8787645 8788179 534 1981
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 8717912 8718404 492 0
CTCF G2GSE9613 8716045 8716212 167 0
ER Fulvestrant-MCF7GSE14664 8718490 8718528 38 0
FOXA1 MCF7GSE15244 8775746 8776034 288 0
Oct1 H2O2-HelaGSE14283 8715308 8715344 36 0
Oct1 HelaGSE14283 8715308 8715349 41 0
Oct1 HelaGSE14283 8732056 8732096 40 0
P300 T30-glioblastomaGSE21026 8717791 8718507 716 0
P300 T30-glioblastomaGSE21026 8753329 8753953 624 0
PAX3-FKHR Rh4GSE19063 8719017 8721172 2155 0
p63 keratinocytesGSE17611 8717896 8718474 578 0
p63 keratinocytesGSE17611 8731188 8732246 1058 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