AutismKB 2.0

Annotation Detail 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
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
88Phosphotyrosine(Jak)HMM predict
108PhosphoserineHMM predict
117N-linkedHMM predict
121N-linkedHMM predict
153Phosphotyrosine(Jak)HMM predict
166Phosphothreonine(PKC)HMM predict
311S-farnesylHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000049
  • Location:chr17 3326045-3349448
  • strand:+
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Nanog ESGSE20650 3332831 3333355 524 0
Nanog hESGSE18292 3332964 3333349 385 0
Oct1 H2O2-HelaGSE14283 3336294 3336333 39 0
Oct1 HelaGSE14283 3336295 3336341 46 0
TFAP2C MCF7GSE21234 3330036 3330739 703 0
Validated miRNA targets Top
Cis-Nats regulation Top

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