MEIG1

Chr 10

meiosis/spermiogenesis associated 1

Also known as: SPATA39, bA2K17.3

NCBI Gene: 644890ENSG00000197889UniProt: Q5JSS6

Predicted to be involved in cell differentiation. Predicted to act upstream of or within manchette assembly and protein localization. Predicted to be located in cytosol and manchette. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2025]

ResearchGenerating clinical summary…
0
Active trials
3
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.84
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?
1.84LOEUF
pLI 0.000
Z-score -0.12
OE 1.06 (0.54–1.84)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.23Z-score
OE missense 1.09 (0.87–1.37)
53 obs / 48.6 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.06 (0.54–1.84)
0≤0.351.4
Missense OE?1.09 (0.87–1.37)
0≤0.61.4
Synonymous OE?0.96
0≤1.21.6
LoF obs/exp: 5 / 4.7Missense obs/exp: 53 / 48.6Syn Z: 0.11

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

MEIG1 · 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