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Gene : CEP83 Homo sapiens

Name  ? centrosomal protein 83 Cytological Location  12q22
Brief Description  centrosomal protein 83
Description  The protein encoded by this gene is a centriolar protein involved in primary cilium assembly. Defects in this gene have been associated with infantile nephronophthisis and intellectual disability. [provided by RefSeq, Oct 2016]
  • synonyms:
  • NY-REN-58,
  • NPHP18,
  • CCDC41,
  • CEP83,
  • NPHP18,
  • CCDC41,
  • OTTHUMG00000170242,
  • HGNC:17966,
  • centrosomal protein 83kDa,
  • coiled-coil domain containing 41,
  • NM_016122,
  • AF155115,
  • NY-REN-58
  • identifiers:
  • 51134,
  • ENSG00000173588,
  • CEP83

Genome feature

Region: gene ? Length: 194965  
Location: 12:94265652-94460616 reverse strand Cyto location: 12q22


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

3753 SN Ps

5 Cross References

19 Data Sets

3 Homologues

0 Located Features

97 Rna Seq Results