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Gene : CSPP1 Homo sapiens

Name  ? centrosome and spindle pole associated protein 1 Cytological Location  8q13.1-q13.2
Brief Description  centrosome and spindle pole associated protein 1
Description  This gene encodes a centrosome and spindle pole associated protein. The encoded protein plays a role in cell-cycle progression and spindle organization, regulates cytokinesis, interacts with Nephrocystin 8 and is required for cilia formation. Mutations in this gene result in primary cilia abnormalities and classical Joubert syndrome. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Apr 2014]
  • synonyms:
  • OTTHUMG00000164564,
  • CSPP,
  • JBTS21,
  • FLJ22490,
  • CSPP-L,
  • uc003xxj.4,
  • CSPP,
  • CSPP1,
  • JBTS21,
  • NM_024790,
  • AJ583433,
  • CSPP-L,
  • HGNC:26193
  • identifiers:
  • 79848,
  • ENSG00000104218,
  • CSPP1

Genome feature

Region: gene ? Length: 135587  
Location: 8:67062417-67198003 Cyto location: 8q13.1-q13.2


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Function

Gene Ontology Displayer

0 Pathways

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

0 Pathways

165 SN Ps

5 Cross References

18 Data Sets

3 Homologues

0 Located Features

97 Rna Seq Results