CFAP300

cilia and flagella associated protein 300, the group of Cilia and flagella associated

Basic information

Region (hg38): 11:102047437-102084554

Previous symbols: [ "C11orf70" ]

Links

ENSG00000137691NCBI:85016OMIM:618058HGNC:28188Uniprot:Q9BRQ4AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

  • 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: CGD

ConditionInheritanceIntervention CategoriesIntervention/Rationale Manifestation CategoriesReferences
Ciliary dyskinesia, primary, 38ARAudiologic/Otolaryngologic; Cardiovascular; PulmonaryAmong 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 managementAudiologic/Otolaryngologic; Cardiovascular; Gastrointestinal; Genitourinary; Pulmonary29727692; 29727693

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CFAP300 gene.

  • 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.

EffectPLPVUSLBBSum
synonymous
21
clinvar
5
clinvar
26
missense
2
clinvar
1
clinvar
24
clinvar
2
clinvar
3
clinvar
32
nonsense
8
clinvar
2
clinvar
10
start loss
0
frameshift
4
clinvar
1
clinvar
5
splice donor/acceptor (+/-2bp)
1
clinvar
1
clinvar
2
Total 15 5 24 23 8

Highest pathogenic variant AF is 0.000026264

Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
CFAP300protein_codingprotein_codingENST00000434758 737118
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.000002070.71512556901781257470.000708
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.1021371400.9760.000006841745
Missense in Polyphen4141.1310.99681553
Synonymous0.1424748.30.9740.00000228487
Loss of Function1.151116.00.6899.34e-7185

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0003140.000314
Ashkenazi Jewish0.000.00
East Asian0.0002220.000217
Finnish0.005480.00542
European (Non-Finnish)0.0003720.000360
Middle Eastern0.0002220.000217
South Asian0.0002370.000229
Other0.0005170.000489

dbNSFP

Source: dbNSFP

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