AutismKB 2.0

Annotation Details for PRTFDC1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:PRTFDC1 ( FLJ11888,HHGP )
Gene Full Name: phosphoribosyl transferase domain containing 1
Band: 10p12.1
Quick LinksEntrez ID:56952; OMIM: 610751; Uniprot ID:PRDC1_HUMAN; ENSEMBL ID: ENSG00000099256; HGNC ID: 23333
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005737IEA-cytoplasm-
GO ID Evidence Qualifier GO_term References
GO:0000166IEA-nucleotide binding-
GO:0000287TAS-magnesium ion binding21054786
GO:0004422IDANOThypoxanthine phosphoribosyltransferase activity21054786
GO:0005515IPI-protein binding16189514
GO:0042803IPI-protein homodimerization activity21054786
GO ID Evidence Qualifier GO_term References
GO:0006166IEA-purine ribonucleoside salvage-
GO:0006178IDANOTguanine salvage21054786
GO:0046038IDANOTGMP catabolic process21054786
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model 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