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Gene : CPLANE1 Homo sapiens

Name  ? ciliogenesis and planar polarity effector 1 Cytological Location  5p13.2
Brief Description  ciliogenesis and planar polarity effector 1
Description  The protein encoded by this gene has putative coiled-coil domains and may be a transmembrane protein. Defects in this gene are a cause of Joubert syndrome (JBTS). [provided by RefSeq, May 2012]
  • synonyms:
  • NM_023073,
  • Hug,
  • chromosome 5 open reading frame 42,
  • JBTS17,
  • C5orf42,
  • C5orf42,
  • FLJ13231,
  • OTTHUMG00000160492,
  • Hug,
  • OFD6,
  • JBTS17,
  • HGNC:25801,
  • CPLANE1,
  • uc011cpa.1
  • identifiers:
  • 65250,
  • ENSG00000197603,
  • CPLANE1

Genome feature

Region: gene ? Length: 185572  
Location: 5:37063928-37249499 reverse strand Cyto location: 5p13.2


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Function

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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

2 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

798 SN Ps

5 Cross References

19 Data Sets

2 Homologues

0 Located Features

97 Rna Seq Results