AutismKB 2.0

Annotation Details for CEP120


View Evidences View Variants View Annotations
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
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005813IDA-centrosome21399614
GO:0005814ISS-centriole-
GO ID Evidence Qualifier GO_term References
GO:0005515IPI-protein binding26638075
GO:0008022IEA-protein C-terminus binding-
GO ID Evidence Qualifier GO_term References
GO:0007098ISS-centrosome cycle-
GO:0010825ISS-positive regulation of centrosome duplication-
GO:0021987IEA-cerebral cortex development-
GO:0022008IEA-neurogenesis-
GO:0022027IEA-interkinetic nuclear migration-
GO:0030953IEA-astral microtubule organization-
GO:0032880IEA-regulation of protein localization-
GO:0045724ISS-positive regulation of cilium assembly-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:2147298
  • Data Attributes: 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