help  | about  | cite  | software

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,
  • CCDC11,
  • coiled-coil domain containing 11,
  • CCDC11,
  • BC030606,
  • OTTHUMG00000132668,
  • HTX6,
  • HGNC:26530,
  • FLJ32743,
  • CFAP53
  • identifiers:
  • 220136,
  • ENSG00000172361,
  • CFAP53

Genome feature

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


Uni Prot Comments Displayer

Protein Atlas Displayer

Gene Expression Atlas Tissues Displayer

Gene Expression Atlas Diseases Displayer

Publication Counts Displayer

Curated Proteins Displayer

Function

Gene Ontology Displayer

0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

J Browse Displayer

Gene Structure Displayer

Overlapping Features Displayer

Mouse Alleles Displayer

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

Homologue Displayer

Interactions

Cytoscape Network Displayer

Gene --> Physical and Genetic Interactions

Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

129 SN Ps

5 Cross References

18 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results