AutismKB 2.0

Annotation Details for AMPD1


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Basic Information Top
Gene Symbol:AMPD1 ( MAD,MADA )
Gene Full Name: adenosine monophosphate deaminase 1
Band: 1p13.2
Quick LinksEntrez ID:270; OMIM: 102770; Uniprot ID:AMPD1_HUMAN; ENSEMBL ID: ENSG00000116748; HGNC ID: 468
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005829TAS-cytosol-
GO ID Evidence Qualifier GO_term References
GO:0003876EXP-AMP deaminase activity1429593
GO:0032036IEA-myosin heavy chain binding-
GO:0046872IEA-metal ion binding-
GO ID Evidence Qualifier GO_term References
GO:0010033IEA-response to organic substance-
GO:0032264IEA-IMP salvage-
GO:0043101TAS-purine-containing compound salvage-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:88015
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

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