AutismKB 2.0

Annotation Detail for PCMT1


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Basic Information Top
Gene Symbol:PCMT1 ( - )
Gene Full Name: protein-L-isoaspartate (D-aspartate) O-methyltransferase
Band: 6q25.1
Quick LinksEntrez ID:5110; OMIM: 176851; Uniprot ID:PIMT_HUMAN; ENSEMBL ID: ENSG00000120265; HGNC ID: 8728
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
2N-acetylalanine.
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
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