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Gene : CEP43 Homo sapiens

Name  ? centrosomal protein 43 Cytological Location  6q27
Brief Description  centrosomal protein 43
Description  This gene encodes a largely hydrophilic centrosomal protein that is required for anchoring microtubules to subcellular structures. A t(6;8)(q27;p11) chromosomal translocation, fusing this gene and the fibroblast growth factor receptor 1 (FGFR1) gene, has been found in cases of myeloproliferative disorder. The resulting chimeric protein contains the N-terminal leucine-rich region of this encoded protein fused to the catalytic domain of FGFR1. Alterations in this gene may also be associated with Crohn's disease, Graves' disease, and vitiligo. Alternatively spliced transcript variants that encode different proteins have been identified. [provided by RefSeq, Jul 2013]
  • synonyms:
  • OTTHUMG00000016011,
  • HGNC:17012,
  • FGFR1 oncogene partner,
  • uc003qvj.5,
  • CEP43,
  • NM_007045,
  • FOP,
  • Y18046,
  • FGFR1OP,
  • FGFR1OP,
  • FOP
  • identifiers:
  • 11116,
  • ENSG00000213066,
  • CEP43

Genome feature

Region: gene ? Length: 53402  
Location: 6:166999317-167052718 Cyto location: 6q27


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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 --> GO terms.

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

0 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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Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

3753 SN Ps

5 Cross References

15 Data Sets

3 Homologues

0 Located Features

97 Rna Seq Results