CFAP300
Basic information
Region (hg38): 11:102047437-102084554
Previous symbols: [ "C11orf70" ]
Links
Phenotypes
GenCC
Source:
- primary ciliary dyskinesia (Supportive), mode of inheritance: AD
- ciliary dyskinesia, primary, 38 (Strong), mode of inheritance: AR
- ciliary dyskinesia, primary, 38 (Definitive), mode of inheritance: AR
- ciliary dyskinesia, primary, 38 (Definitive), mode of inheritance: AR
Clinical Genomic Database
Source:
Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
---|---|---|---|---|---|
Ciliary dyskinesia, primary, 38 | AR | Audiologic/Otolaryngologic; Cardiovascular; Pulmonary | Among other findings, patients can manifest with early-onset respiratory disease, including upper respiratory infections, and awareness may allow early interventions related to these sequelae; The condition can involve congenital cardiac anomalies, and awareness may allow early management | Audiologic/Otolaryngologic; Cardiovascular; Gastrointestinal; Genitourinary; Pulmonary | 29727692; 29727693 |
ClinVar
This is a list of variants' phenotypes submitted to
- not_provided (90 variants)
- Ciliary_dyskinesia,_primary,_38 (10 variants)
- CFAP300-related_disorder (7 variants)
- Inborn_genetic_diseases (3 variants)
- Primary_ciliary_dyskinesia (1 variants)
- not_specified (1 variants)
- Heterotaxy (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the CFAP300 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000032930.3. Only rare variants are included in the table.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
---|---|---|---|---|---|---|
synonymous | 21 | 26 | ||||
missense | 24 | 32 | ||||
nonsense | 10 | |||||
start loss | 0 | |||||
frameshift | 5 | |||||
splice donor/acceptor (+/-2bp) | 2 | |||||
Total | 15 | 5 | 24 | 23 | 8 |
Highest pathogenic variant AF is 0.000026264
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
CFAP300 | protein_coding | protein_coding | ENST00000434758 | 7 | 37118 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.00000207 | 0.715 | 125569 | 0 | 178 | 125747 | 0.000708 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.102 | 137 | 140 | 0.976 | 0.00000684 | 1745 |
Missense in Polyphen | 41 | 41.131 | 0.99681 | 553 | ||
Synonymous | 0.142 | 47 | 48.3 | 0.974 | 0.00000228 | 487 |
Loss of Function | 1.15 | 11 | 16.0 | 0.689 | 9.34e-7 | 185 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000314 | 0.000314 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.000222 | 0.000217 |
Finnish | 0.00548 | 0.00542 |
European (Non-Finnish) | 0.000372 | 0.000360 |
Middle Eastern | 0.000222 | 0.000217 |
South Asian | 0.000237 | 0.000229 |
Other | 0.000517 | 0.000489 |
dbNSFP
Source:
- Function
- FUNCTION: Cilium- and flagellum-specific protein that plays a role in axonemal structure organization and motility. May play a role in outer and inner dynein arm assembly. {ECO:0000250|UniProtKB:A0CY51}.;
- Disease
- DISEASE: Note=Defects in CFAP300 are a cause of primary ciliary dyskinesia (PCD), a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. {ECO:0000269|PubMed:29727692, ECO:0000269|PubMed:29727693}.;
Recessive Scores
- pRec
- 0.0947
Intolerance Scores
- loftool
- rvis_EVS
- -0.23
- rvis_percentile_EVS
- 36.86
Haploinsufficiency Scores
- pHI
- 0.196
- hipred
- N
- hipred_score
- 0.251
- ghis
- 0.534
Essentials
- essential_gene_CRISPR
- essential_gene_CRISPR2
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- gene_indispensability_score
Mouse Genome Informatics
- Gene name
- Cfap300
- Phenotype
Gene ontology
- Biological process
- Cellular component
- cytoplasm;cytoskeleton;motile cilium
- Molecular function
- protein binding