CFAP61

Chr 20AR

cilia and flagella associated protein 61

Also known as: C20orf26, CaM-IP3, SPGF84, dJ1002M8.3, dJ1178H5.4

The CFAP61 protein is involved in sperm flagellum assembly and plays an essential role in the formation of radial spokes in flagellum axoneme. Mutations cause spermatogenic failure 84, which follows autosomal recessive inheritance. This gene primarily affects male fertility rather than neurological development.

Summary from RefSeq, OMIM, UniProt
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Primary Disease Associations & Inheritance

Spermatogenic failure 84MIM #620409
AR
0
Active trials
3
Pubs (1 yr)
0
P/LP submissions
P/LP missense
0.73
LOEUF
Mechanism
Clinical SummaryCFAP61
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
0.73LOEUF
pLI 0.000
Z-score 3.31
OE 0.55 (0.410.73)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
0.24Z-score
OE missense 0.97 (0.921.04)
700 obs / 718.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.55 (0.410.73)
00.351.4
Missense OE0.97 (0.921.04)
00.61.4
Synonymous OE0.97
01.21.6
LoF obs/exp: 34 / 62.2Missense obs/exp: 700 / 718.4Syn Z: 0.45

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

CFAP61 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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