AutismKB 2.0

Annotation Detail for GAMT


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Basic Information Top
Gene Symbol:GAMT ( PIG2,TP53I2 )
Gene Full Name: guanidinoacetate N-methyltransferase
Band: 19p13.3
Quick LinksEntrez ID:2593; OMIM: 601240; Uniprot ID:GAMT_HUMAN; ENSEMBL ID: ENSG00000130005; HGNC ID: 4136
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
222Phosphotyrosine.
223Phosphotyrosine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
7O-linkedHMM predict
17Phosphoserine(ATM)HMM predict
170N-linkedHMM predict
222Phosphotyrosine(Syk)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_138924
  • Location:chr19 1349607-1352551
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 1352514 1352719 205 65
CTCF CD4SISSRdata 1352514 1352719 205 65
TFAP2C MCF7GSE21234 1353531 1354176 645 1302
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 1351086 1351269 183 0
PHF8 HeLaGSE20725 1351913 1352879 966 0
hScc1 BcellGSE12603 1352114 1352518 404 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