CFAP43

cilia and flagella associated protein 43, the group of WD repeat domain containing|Cilia and flagella associated

Basic information

Region (hg38): 10:104129888-104232364

Previous symbols: [ "C10orf79", "WDR96" ]

Links

ENSG00000197748 ∙ NCBI:80217 ∙ OMIM:617558 ∙ HGNC:26684 ∙ Uniprot:Q8NDM7 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• spermatogenic failure 19 (Limited), mode of inheritance: AR
• normal pressure hydrocephalus (Limited), mode of inheritance: AD
• non-syndromic male infertility due to sperm motility disorder (Supportive), mode of inheritance: AR
• spermatogenic failure 19 (Definitive), mode of inheritance: AR
• primary ciliary dyskinesia (Disputed Evidence), mode of inheritance: Unknown
• normal pressure hydrocephalus (Limited), mode of inheritance: AD

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Spermatogenic failure 19	AR	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Genitourinary	28552195

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CFAP43 gene.

• not_specified (203 variants)
• not_provided (38 variants)
• CFAP43-related_disorder (23 variants)
• Spermatogenic_failure_19 (19 variants)
• Normal_pressure_hydrocephalus (9 variants)
• Prostate_cancer (1 variants)
• Abnormal_sperm_morphology (1 variants)
• Reduced_sperm_motility (1 variants)
• Oligospermia (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CFAP43 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000025145.7. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				20	5	25
missense	3	1	195	21	5	225
nonsense	7	3				10
start loss						0
frameshift	2	4				6
splice donor/acceptor (+/-2bp)	2					2
Total	14	8	195	41	10

Highest pathogenic variant AF is 0.000245099

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CFAP43	protein_coding	protein_coding	ENST00000357060	38	102475

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.35e-22	1.00	125449	0	299	125748	0.00119

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.773	781	844	0.925	0.0000434	11027
Missense in Polyphen		173	196.85	0.87886		2703
Synonymous	0.350	304	312	0.975	0.0000175	2933
Loss of Function	3.94	51	91.8	0.556	0.00000447	1218

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00214	0.00213
Ashkenazi Jewish	0.00	0.00
East Asian	0.00648	0.00649
Finnish	0.000371	0.000370
European (Non-Finnish)	0.000851	0.000844
Middle Eastern	0.00648	0.00649
South Asian	0.000725	0.000719
Other	0.000818	0.000815

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Flagellar protein involved in sperm flagellum axoneme organization and function. {ECO:0000250|UniProtKB:E9Q7R9}.

Recessive Scores

• pRec: 0.0794

Intolerance Scores

• rvis_EVS: -1.46
• rvis_percentile_EVS: 3.76

Haploinsufficiency Scores

• pHI: 0.120
• hipred: N
• hipred_score: 0.266
• ghis: 0.450

Mouse Genome Informatics

• Gene name: Cfap43
• Phenotype: reproductive system phenotype; cellular phenotype

Gene ontology

• Biological process: sperm axoneme assembly
• Cellular component: axoneme;motile cilium