AutismKB 2.0

Annotation Details for CCDC50


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Basic Information Top
Gene Symbol:CCDC50 ( C3orf6,DFNA44,YMER )
Gene Full Name: coiled-coil domain containing 50
Band: 3q28
Quick LinksEntrez ID:152137; OMIM: 611051; Uniprot ID:CCD50_HUMAN; ENSEMBL ID: ENSG00000152492; HGNC ID: 18111
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005829IDA-cytosol-
GO ID Evidence Qualifier GO_term References
GO:0005515IPI-protein binding18029035
GO:0031625IPI-ubiquitin protein ligase binding23418353
GO ID Evidence Qualifier GO_term References
GO:0007605IMP-sensory perception of sound17503326
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
CCDC50EGFR12743116803894 Affinity Capture-Western
CCDC50EGFR10827616803894 Affinity Capture-Western
CCDC50UBC12743116803894 Affinity Capture-Western
CCDC50UBC11316416803894 Affinity Capture-Western
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
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


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