AutismKB 2.0

Annotation Details for CEP250


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Basic Information Top
Gene Symbol:CEP250 ( C-NAP1,CEP2,CNAP1,MGC88542 )
Gene Full Name: centrosomal protein 250kDa
Band: 20q11.22
Quick LinksEntrez ID:11190; OMIM: 609689; Uniprot ID:CP250_HUMAN; ENSEMBL ID: ENSG00000126001; HGNC ID: 1859
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005813IDA-centrosome9647649
GO:0005814IDA-centriole18851962
GO:0005814IDAcolocalizes_withcentriole11076968
GO:0005815NAS-microtubule organizing center9647649
GO:0005829TAS-cytosol-
GO:0005929IEA-cilium-
GO:0043234IMP-protein complex10880350
GO:0048471IEA-perinuclear region of cytoplasm-
GO:0070062IDA-extracellular exosome19056867
GO ID Evidence Qualifier GO_term References
GO:0005515IPI-protein binding10880350
GO:0008022IPI-protein C-terminus binding18851962
GO:0019901IPI-protein kinase binding9647649
GO:0019904IPI-protein domain specific binding24554434
GO ID Evidence Qualifier GO_term References
GO:0000086TAS-G2/M transition of mitotic cell cycle-
GO:0000278IDA-mitotic cell cycle12140259
GO:0008104IMP-protein localization18851962
GO:0010457IMP-centriole-centriole cohesion11076968
GO:0030997IDA-regulation of centriole-centriole cohesion9647649
GO:0033365IMP-protein localization to organelle24554434
GO:0097711TAS-ciliary basal body docking-
GO:1904781IMP-positive regulation of protein localization to centrosome27623382
GO:1905515IMP-non-motile cilium assembly23789104
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
CEP250NEK21163609647649 Biochemical Activity; Two-hybrid
CEP250NEK21108269647649 Biochemical Activity; Two-hybrid
PLEKHA5CEP25011636020936779 Two-hybrid
PLEKHA5CEP25011998220936779 Two-hybrid
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:108084
  • Data Attributes: MGI curated and HomoloGene calculated
No data
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