AutismKB 2.0

Annotation Detail for CEP120


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Basic Information Top
Gene Symbol:CEP120 ( CCDC100,DKFZp686I06246,FLJ36090,FLJ38327 )
Gene Full Name: centrosomal protein 120kDa
Band: 5q23.2
Quick LinksEntrez ID:153241; OMIM: 613446; Uniprot ID:CE120_HUMAN; ENSEMBL ID: ENSG00000168944; HGNC ID: 26690
Relate to Another Database: SFARIGene; denovo-db
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Desease Name
CARDIOVASCULAR
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Aortic root size
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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