GOLGA8S

Chr 15

golgin A8 family member S

NCBI Gene: 653061 ENSG00000261739 UniProt: H3BPF8 OMIM: 612001

The protein is predicted to be involved in organizing the Golgi apparatus and localizes to Golgi membranes and cisternae. Mutations are associated with chromosome 15q13.3 microdeletion syndrome, which involves developmental delay, intellectual disability, and seizures. This gene shows very low constraint against loss-of-function variants, and the association with disease likely reflects the broader genomic rearrangement rather than single-gene effects.

OMIM ResearchSummary from RefSeq, OMIM

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]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Chromosome 15q13.3 microdeletion syndromeMIM #612001

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.98

LOEUF

Multiple*

Mechanism· predicted

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

Background carrier burden — how many people carry a rare variant somewhere in GOLGA8S?

gnomAD v4 · ~727k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 56

363 rare PASS variants

Rare truncating (LoF)

1 in 450

66 rare PASS variants

Rare synonymous (reference)

1 in 100

118 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for GOLGA8S. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 58	1 in 490
South Asian	~43k	1 in 42	1 in 660
Remaining (unassigned)	~30k	1 in 81	1 in 200
European (Finnish)	~27k	1 in 160	≈ 1 in 18,000
Admixed American	~22k	1 in 52	1 in 660
African / African American	~21k	1 in 40	1 in 350
East Asian	~20k	1 in 61	1 in 780
Ashkenazi Jewish	~13k	1 in 150	≈ 1 in 12,000
Middle Eastern	~2,756	1 in 87	≈ 1 in 660

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 4 of 19 coding exons well covered in gnomAD exomes; exons 1, 2, 3, 4, 5 and 7 more poorly covered; exons 9, 11, 12 marginal. Genomes: 2 of 19 (exons 1, 2, 3, 4, 6 and 12 more below).? see exons ↓