AutismKB 2.0

Annotation Details for CEP57


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Basic Information Top
Gene Symbol:CEP57 ( KIAA0092,PIG8,TSP57 )
Gene Full Name: centrosomal protein 57kDa
Band: 11q21
Quick LinksEntrez ID:9702; OMIM: 607951; Uniprot ID:CEP57_HUMAN; ENSEMBL ID: ENSG00000166037; HGNC ID: 30794
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005634ISS-nucleus12954732
GO:0005794IDA-Golgi apparatus10942595
GO:0005813IDA-centrosome14654843
GO:0005829TAS-cytosol-
GO:0005874IDA-microtubule12717444
GO ID Evidence Qualifier GO_term References
GO:0005515IPI-protein binding15607035
GO:0008017IBA-microtubule binding-
GO:0017134IPI-fibroblast growth factor binding12717444
GO:0042803IPI-protein homodimerization activity12717444
GO:0043015IEA-gamma-tubulin binding-
GO ID Evidence Qualifier GO_term References
GO:0000060IBA-protein import into nucleus, translocation-
GO:0000060ISS-protein import into nucleus, translocation12717444
GO:0000070IBA-mitotic sister chromatid segregation-
GO:0000086TAS-G2/M transition of mitotic cell cycle-
GO:0007286ISS-spermatid development12954732
GO:0008543IPI-fibroblast growth factor receptor signaling pathway12717444
GO:0034453IEA-microtubule anchoring-
GO:0051260IEA-protein homooligomerization-
GO:0097711TAS-ciliary basal body docking-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1915551
  • Data Attributes: MGI curated and 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