GOLGA8S

Chr 15

golgin A8 family member S

NCBI Gene: 653061ENSG00000261739UniProt: H3BPF8

Predicted to be involved in Golgi organization. Predicted to be located in Golgi apparatus. Predicted to be active in Golgi cis cisterna; Golgi cisterna membrane; and cis-Golgi network. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.98
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?
1.98LOEUF
pLI 0.000
Z-score -3.55
OE 1.92 (1.38–1.98)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-4.44Z-score
OE missense 1.96 (1.77–1.99)
331 obs / 168.7 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.92 (1.38–1.98)
0≤0.351.4
Missense OE?1.96 (1.77–1.99)
0≤0.61.4
Synonymous OE?1.59
0≤1.21.6
LoF obs/exp: 33 / 17.2Missense obs/exp: 331 / 168.7Syn Z: -3.76

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

GOLGA8S · 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