AutismKB 2.0

Annotation Details for PSAT1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:PSAT1 ( EPIP,MGC1460,PSA,PSAT )
Gene Full Name: phosphoserine aminotransferase 1
Band: 9q21.2
Quick LinksEntrez ID:29968; OMIM: 610936; Uniprot ID:SERC_HUMAN; ENSEMBL ID: ENSG00000135069; HGNC ID: 19129
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005737IBA-cytoplasm-
GO:0005829IDA-cytosol-
GO:0005829TAS-cytosol-
GO:0070062IDA-extracellular exosome19056867
GO ID Evidence Qualifier GO_term References
GO:0004648IBA-O-phospho-L-serine:2-oxoglutarate aminotransferase activity-
GO:0004648NAS-O-phospho-L-serine:2-oxoglutarate aminotransferase activity10637769
GO:0004648TAS-O-phospho-L-serine:2-oxoglutarate aminotransferase activity-
GO ID Evidence Qualifier GO_term References
GO:0006564IBA-L-serine biosynthetic process-
GO:0006564NAS-L-serine biosynthetic process10637769
GO:0006564TAS-L-serine biosynthetic process-
GO:0008615NAS-pyridoxine biosynthetic process10637769
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:2183441
  • 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