GSG1

Chr 12

germ cell associated 1

NCBI Gene: 83445ENSG00000111305UniProt: Q2KHT4OMIM: 617161

Predicted to enable RNA polymerase binding activity. Predicted to be located in endoplasmic reticulum. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Jun 2026]

OMIMResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.93
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.93LOEUF
pLI 0.001
Z-score 1.77
OE 0.49 (0.28–0.93)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.22Z-score
OE missense 0.95 (0.85–1.08)
184 obs / 192.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.49 (0.28–0.93)
0≤0.351.4
Missense OE?0.95 (0.85–1.08)
0≤0.61.4
Synonymous OE?0.95
0≤1.21.6
LoF obs/exp: 7 / 14.2Missense obs/exp: 184 / 192.7Syn Z: 0.35

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

GSG1 · 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