AutismKB 2.0

Annotation Detail 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
Related Pathway Information Top
No data
No data
Pathway IDPathway Name
Cell Cycle, Mitotic
No data
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Pathway IDPathway Name
500383Loss of proteins required for interphase microtubule organization from the centrosome
500384Loss of Nlp from mitotic centrosomes
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
No data
No data
Pathway ID Pathway Name
REACT:152 Cell Cycle, Mitotic
Pharmacogenomics Knowledge Base Top
Drug Bank Top

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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