CFAP44

cilia and flagella associated protein 44, the group of Cilia and flagella associated|MicroRNA protein coding host genes|WD repeat domain containing

Basic information

Region (hg38): 3:113286930-113441610

Previous symbols: [ "WDR52" ]

Links

ENSG00000206530NCBI:55779OMIM:617559HGNC:25631Uniprot:Q96MT7AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

  • spermatogenic failure 20 (Moderate), mode of inheritance: AR
  • non-syndromic male infertility due to sperm motility disorder (Supportive), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

ConditionInheritanceIntervention CategoriesIntervention/Rationale Manifestation CategoriesReferences
Spermatogenic failure 20ARGeneralGenetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testingGenitourinary28552195

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CFAP44 gene.

  • Inborn_genetic_diseases (118 variants)
  • not_provided (63 variants)
  • CFAP44-related_disorder (20 variants)
  • Spermatogenic_failure_20 (12 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CFAP44 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001164496.2. 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
27
clinvar
8
clinvar
35
missense
1
clinvar
107
clinvar
20
clinvar
8
clinvar
136
nonsense
4
clinvar
2
clinvar
1
clinvar
7
start loss
0
frameshift
3
clinvar
2
clinvar
1
clinvar
6
splice donor/acceptor (+/-2bp)
1
clinvar
2
clinvar
3
Total 9 6 107 49 16

Highest pathogenic variant AF is 0.000156137

Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
CFAP44protein_codingprotein_codingENST00000393845 34154681
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
6.10e-151.0012557601721257480.000684
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.378019180.8730.000046212303
Missense in Polyphen168208.860.804362844
Synonymous1.412843160.8990.00001623306
Loss of Function5.124194.80.4320.000005471221

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.001630.00162
Ashkenazi Jewish0.006160.00617
East Asian0.001580.00147
Finnish0.00009240.0000924
European (Non-Finnish)0.0003380.000334
Middle Eastern0.001580.00147
South Asian0.0001310.000131
Other0.0009910.000978

dbNSFP

Source: dbNSFP

Function
FUNCTION: Flagellar protein involved in sperm flagellum axoneme organization and function. {ECO:0000250|UniProtKB:E9Q5M6}.;

Intolerance Scores

loftool
rvis_EVS
2.43
rvis_percentile_EVS
98.54

Haploinsufficiency Scores

pHI
0.191
hipred
N
hipred_score
0.372
ghis
0.427

Essentials

essential_gene_CRISPR
essential_gene_CRISPR2
essential_gene_gene_trap
N
gene_indispensability_pred
gene_indispensability_score

Mouse Genome Informatics

Gene name
Cfap44
Phenotype
reproductive system phenotype; cellular phenotype;

Gene ontology

Biological process
sperm axoneme assembly;cilium-dependent cell motility
Cellular component
cytoplasm;cytoskeleton;motile cilium
Molecular function