AutismKB 2.0

Annotation Details for RUSC1


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Basic Information Top
Gene Symbol:RUSC1 ( DKFZp761A1822,NESCA )
Gene Full Name: RUN and SH3 domain containing 1
Band: 1q22
Quick LinksEntrez ID:23623; OMIM: NA; Uniprot ID:RUSC1_HUMAN; ENSEMBL ID: ENSG00000160753; HGNC ID: 17153
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005634IEA-nucleus-
GO:0005769ISS-early endosome-
GO:0005794ISS-Golgi apparatus-
GO:0005829IDA-cytosol-
GO:0005874IEA-microtubule-
GO:0014069IEA-postsynaptic density-
GO:0015630ISS-microtubule cytoskeleton-
GO:0030054IEA-cell junction-
GO:0031410ISS-cytoplasmic vesicle-
GO:0045211IEA-postsynaptic membrane-
GO ID Evidence Qualifier GO_term References
GO:0003779ISS-actin binding-
GO:0005070TAS-SH3/SH2 adaptor activity10760598
GO:0005515IPI-protein binding25416956
GO ID Evidence Qualifier GO_term References
GO:0000209IDA-protein polyubiquitination19365808
GO:0009967IEA-positive regulation of signal transduction-
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