SPATS1

Chr 6

spermatogenesis associated serine rich 1

ENSG00000249481UniProt: Q496A3

ResearchGenerating clinical summary…
0
Active trials
1
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.26
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (2)

ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

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?
1.26LOEUF
pLI 0.000
Z-score 0.85
OE 0.76 (0.48–1.26)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.84Z-score
OE missense 0.82 (0.71–0.94)
134 obs / 164.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.76 (0.48–1.26)
0≤0.351.4
Missense OE?0.82 (0.71–0.94)
0≤0.61.4
Synonymous OE?1.11
0≤1.21.6
LoF obs/exp: 11 / 14.5Missense obs/exp: 134 / 164.1Syn Z: -0.65

ClinVar

No ClinVar data available.

Protein Context — Lollipop Plot

SPATS1 · 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