AutismKB 2.0

Annotation Details for CYP39A1


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Basic Information Top
Gene Symbol:CYP39A1 ( - )
Gene Full Name: cytochrome P450, family 39, subfamily A, polypeptide 1
Band: 6p12.3
Quick LinksEntrez ID:51302; OMIM: 605994; Uniprot ID:CP39A_HUMAN; ENSEMBL ID: ENSG00000146233; HGNC ID: 17449
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005789TAS-endoplasmic reticulum membrane-
GO:0031090IEA-organelle membrane-
GO:0043231TAS-intracellular membrane-bounded organelle10748047
GO ID Evidence Qualifier GO_term References
GO:0005506IEA-iron ion binding-
GO:0008387IEA-steroid 7-alpha-hydroxylase activity-
GO:0008396IDA-oxysterol 7-alpha-hydroxylase activity10748047
GO:0008396TAS-oxysterol 7-alpha-hydroxylase activity-
GO:0020037IEA-heme binding-
GO ID Evidence Qualifier GO_term References
GO:0006699IDA-bile acid biosynthetic process10748047
GO:0006699TAS-bile acid biosynthetic process-
GO:0006707IEA-cholesterol catabolic process-
GO:0007586TAS-digestion10748047
GO:0016125TAS-sterol metabolic process-
GO:0030573IEA-bile acid catabolic process-
GO:0055114IEA-oxidation-reduction process-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Gene Symbol Poly Names Gene overview in AlzGene
CYP39A1rs3757241, rs3799866, rs3799877, rs699938 Gene overview in AlzGene
No data
No data
Animal Model Top
  • MGI ID: MGI:1927096
  • 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