AutismKB 2.0

Annotation Details for ASPA


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Basic Information Top
Gene Symbol:ASPA ( ACY2,ASP )
Gene Full Name: aspartoacylase
Band: 17p13.2
Quick LinksEntrez ID:443; OMIM: 608034; Uniprot ID:ACY2_HUMAN; ENSEMBL ID: ENSG00000108381; HGNC ID: 756
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005634IEA-nucleus-
GO:0005829IDA-cytosol-
GO:0005829TAS-cytosol-
GO:0070062IDA-extracellular exosome23376485
GO ID Evidence Qualifier GO_term References
GO:0004046TAS-aminoacylase activity8252036
GO:0005515IPI-protein binding22284616
GO:0016788IEA-hydrolase activity, acting on ester bonds-
GO:0019807TAS-aspartoacylase activity-
GO:0046872IEA-metal ion binding-
GO ID Evidence Qualifier GO_term References
GO:0006533TAS-aspartate catabolic process8252036
GO:0008652TAS-cellular amino acid biosynthetic process-
GO:0022010IEA-central nervous system myelination-
GO:0048714IEA-positive regulation of oligodendrocyte differentiation-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
ASPAASPA10693516189514 Two-hybrid
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:87914
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

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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