Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 85016
MIM: 618058
HGNC: 28188
Ensembl: ENSG00000137691
Variants:
dbSNP: 85016
ClinVar: 85016
TCGA: ENSG00000137691
COSMIC: CFAP300
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000137691 | ENST00000434758 | Q9BRQ4 |
| ENSG00000137691 | ENST00000526781 | E9PM77 |
| ENSG00000137691 | ENST00000529204 | H0YCT8 |
| ENSG00000137691 | ENST00000534360 | Q9BRQ4 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 29727692 | 2018 | C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia. | 26 |
| 29727693 | 2018 | Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms. | 31 |
| 29727692 | 2018 | C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia. | 26 |
| 29727693 | 2018 | Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms. | 31 |
Citation
Dessen P
CFAP300 (cilia and flagella associated protein 300)
Atlas Genet Cytogenet Oncol Haematol. 2018-11-01
Online version: http://atlasgeneticsoncology.org/gene/80301/cfap300-(cilia-and-flagella-associated-protein-300)
