AutismKB 2.0

Annotation Details for ASPHD1


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Basic Information Top
Gene Symbol:ASPHD1 ( - )
Gene Full Name: aspartate beta-hydroxylase domain containing 1
Band: 16p11.2
Quick LinksEntrez ID:253982; OMIM: NA; Uniprot ID:ASPH1_HUMAN; ENSEMBL ID: ENSG00000174939; HGNC ID: 27380
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0016021IEA-integral component of membrane-
GO ID Evidence Qualifier GO_term References
GO:0051213IEA-dioxygenase activity-
GO ID Evidence Qualifier GO_term References
GO:0018193IEA-peptidyl-amino acid modification-
GO:0055114IEA-oxidation-reduction process-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
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  (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