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Gene : CFAP53 Homo sapiens

Name  ? cilia and flagella associated protein 53 Cytological Location  18q21.1
Brief Description  cilia and flagella associated protein 53
Description  This gene belongs to the CFAP53 family. It was found to be differentially expressed by the ciliated cells of frog epidermis and in skin fibroblasts from human. Mutations in this gene are associated with visceral heterotaxy-6, which implicates this gene in determination of left-right asymmetric patterning. [provided by RefSeq, Aug 2015]
  • synonyms:
  • NM_145020,
  • CFAP53,
  • FLJ32743,
  • HTX6,
  • HGNC:26530,
  • CCDC11,
  • BC030606,
  • coiled-coil domain containing 11,
  • CCDC11,
  • OTTHUMG00000132668
  • identifiers:
  • 220136,
  • ENSG00000172361,
  • CFAP53

Genome feature

Region: gene ? Length: 39303  
Location: 18:50227193-50266495 reverse strand Cyto location: 18q21.1

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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.


Gene --> Proteins.


Gene Report --> GWAS hit


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]


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Gene --> Physical and Genetic Interactions


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

Gene Ontology

Gene --> GO terms.



0 Pathways

129 SNPs

5 Cross References

18 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results