AutismKB 2.0

Annotation Details for AEN


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:AEN ( FLJ12484,FLJ12562,ISG20L1,pp12744 )
Gene Full Name: apoptosis enhancing nuclease
Band: 15q26.1
Quick LinksEntrez ID:64782; OMIM: 610177; Uniprot ID:AEN_HUMAN; ENSEMBL ID: ENSG00000181026; HGNC ID: 25722
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005634IDA-nucleus-
GO:0005654IDA-nucleoplasm16171785
GO:0005730IDA-nucleolus18264133
GO:0031965IDA-nuclear membrane-
GO ID Evidence Qualifier GO_term References
GO:0003676IEA-nucleic acid binding-
GO:0004527IDA-exonuclease activity16171785
GO:0005515IPI-protein binding25416956
GO ID Evidence Qualifier GO_term References
GO:0010212IDA-response to ionizing radiation16171785
GO:0042771IDA-intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator18264133
GO:0090305IEA-nucleic acid phosphodiester bond hydrolysis-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1915298
  • Data Attributes: 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