AutismKB 2.0

Annotation Details for ASPSCR1


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Basic Information Top
Gene Symbol:ASPSCR1 ( ASPCR1,ASPL,ASPS,FLJ45380,RCC17,TUG,UBXD9,UBXN9 )
Gene Full Name: alveolar soft part sarcoma chromosome region, candidate 1
Band: 17q25.3
Quick LinksEntrez ID:79058; OMIM: 606236; Uniprot ID:ASPC1_HUMAN; ENSEMBL ID: ENSG00000169696; HGNC ID: 13825
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005575ND-cellular_component-
GO:0005654IDA-nucleoplasm-
GO:0005829IEA-cytosol-
GO:0005886IDA-plasma membrane-
GO:0009898IEA-cytoplasmic side of plasma membrane-
GO:0012505IEA-endomembrane system-
GO:0012506IEA-vesicle membrane-
GO:0019898IEA-extrinsic component of membrane-
GO:0033116IEA-endoplasmic reticulum-Golgi intermediate compartment membrane-
GO:0043231IDA-intracellular membrane-bounded organelle-
GO:0048471IEA-perinuclear region of cytoplasm-
GO ID Evidence Qualifier GO_term References
GO:0003674ND-molecular_function-
GO:0005515IPI-protein binding18775313
GO ID Evidence Qualifier GO_term References
GO:0006886IEA-intracellular protein transport-
GO:0008150ND-biological_process-
GO:0042593IEA-glucose homeostasis-
GO:0046324IEA-regulation of glucose import-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1916188
  • Data Attributes: MGI curated and HomoloGene calculated
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