SPATA6L

Chr 9

spermatogenesis associated 6 like

Also known as: C9orf68, bA6J24.2

NCBI Gene: 55064ENSG00000106686UniProt: Q8N4H0

Predicted to enable myosin light chain binding activity. Predicted to be involved in spermatogenesis. Predicted to be located in sperm head-tail coupling apparatus. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.74
LOEUF
Multiple*
Mechanism· predicted
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?
1.74LOEUF
pLI 0.000
Z-score -0.93
OE 1.24 (0.88–1.74)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-2.46Z-score
OE missense 1.53 (1.38–1.69)
265 obs / 173.7 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.24 (0.88–1.74)
0≤0.351.4
Missense OE?1.53 (1.38–1.69)
0≤0.61.4
Synonymous OE?1.11
0≤1.21.6
LoF obs/exp: 22 / 17.8Missense obs/exp: 265 / 173.7Syn Z: -0.70

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SPATA6L · 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