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Gene : CFAP298 Homo sapiens

Name  ? cilia and flagella associated protein 298 Cytological Location  21q22.11
Brief Description  cilia and flagella associated protein 298
Description  This gene encodes a protein that plays a critical role in dynein arm assembly and motile cilia function. Mutations in this gene result in primary ciliary dyskinesia. Naturally occuring readthrough transcription occurs from this locus to the downstream t-complex 10 like (TCP10L) gene. [provided by RefSeq, Apr 2017]
  • synonyms:
  • FBB18,
  • C21orf48,
  • CILD26,
  • C21orf59,
  • HGNC:1301,
  • NM_021254,
  • chromosome 21 open reading frame 48,
  • AF282851,
  • OTTHUMG00000179510,
  • C21orf48,
  • FLJ20467,
  • CILD26,
  • kurly homolog (zebrafish),
  • Kur,
  • C21orf59,
  • CFAP298,
  • Kur,
  • chromosome 21 open reading frame 59,
  • uc002yqc.4,
  • FBB18
  • identifiers:
  • 56683,
  • ENSG00000159079,
  • CFAP298

Genome feature

Region: gene ? Length: 13518  
Location: 21:32599354-32612871 reverse strand Cyto location: 21q22.11


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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

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

430 SN Ps

5 Cross References

18 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results