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Gene : CFAP57 Homo sapiens

Name  ? cilia and flagella associated protein 57 Cytological Location  1p34.2
Brief Description  cilia and flagella associated protein 57
Description  This protein encoded by this gene belongs to the WD repeat-containing family of proteins, which function in the formation of protein-protein complexes in a variety of biological pathways. This family member is thought to function in craniofacial development, possibly in the fusion of lip and palate. A missense mutation in this gene is associated with Van der Woude syndrome 2. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]
  • synonyms:
  • AK056562,
  • OTTHUMG00000007285,
  • WDR65,
  • NM_152498,
  • HGNC:26485,
  • WDR65,
  • VWS2,
  • FLJ32000,
  • WD repeat domain 65,
  • CFAP57
  • identifiers:
  • 149465,
  • ENSG00000243710,
  • CFAP57

Genome feature

Region: gene ? Length: 82029  
Location: 1:43172330-43254358 Cyto location: 1p34.2


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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.

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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

0 Pathways

3753 SN Ps

5 Cross References

15 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results