CFAP61

Chr 20

cilia and flagella associated protein 61

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

NCBI Gene: 26074ENSG00000089101UniProt: Q8NHU2

Involved in sperm flagellum assembly. Predicted to be located in motile cilium and radial spoke stalk. Predicted to be active in sperm flagellum. Implicated in spermatogenic failure 84. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtSpermatogenic failure 84
0
Active trials
3
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.73
LOEUF
—
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.73LOEUF
pLI 0.000
Z-score 3.31
OE 0.55 (0.41–0.73)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.24Z-score
OE missense 0.97 (0.92–1.04)
700 obs / 718.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.55 (0.41–0.73)
0≤0.351.4
Missense OE?0.97 (0.92–1.04)
0≤0.61.4
Synonymous OE?0.97
0≤1.21.6
LoF obs/exp: 34 / 62.2Missense obs/exp: 700 / 718.4Syn Z: 0.45

ClinVar Variant Classifications

0 submitted variants in ClinVar

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

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients