GOLGA8A

Chr 15

golgin A8 family member A

Also known as: CFAP286, FAP286, GM88

NCBI Gene: 23015 ENSG00000175265 UniProt: A7E2F4

The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked, flattened membrane sacs referred to as cisternae. Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. The golgins constitute a family of proteins which are localized to the Golgi. This gene encodes a golgin which structurally resembles its family member GOLGA2, suggesting that they may share a similar function. There are many similar copies of this gene on chromosome 15. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]

Research

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.81

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?

1.81LOEUF

pLI 0.000

Z-score -0.00

OE 1.00 (0.51–1.81)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.27Z-score

OE missense 0.91 (0.75–1.11)

72 obs / 78.8 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?1.00 (0.51–1.81)

0≤0.351.4

Missense OE?0.91 (0.75–1.11)

0≤0.61.4

Synonymous OE?1.17

0≤1.21.6

LoF obs/exp: 5 / 5.0Missense obs/exp: 72 / 78.8Syn Z: -0.74

Background carrier burden — how many people carry a rare variant somewhere in GOLGA8A?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 560

44 rare PASS variants

Rare truncating (LoF)

1 in 1,300

28 rare PASS variants

Rare synonymous (reference)

1 in 2,200

16 rare PASS variants

Rare missense and truncating variants are carried at similar rates in GOLGA8A; this gene does not show strong loss-of-function constraint by this measure. 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 790	1 in 640
South Asian	~43k	1 in 230	1 in 1,300
Remaining (unassigned)	~30k	1 in 210	1 in 2,200
European (Finnish)	~27k	1 in 2,000	1 in 3,700
Admixed American	~22k	1 in 210	≈ 1 in 4,900
African / African American	~21k	1 in 1,100	≈ 1 in 4,800
East Asian	~20k	1 in 880	1 in 590
Ashkenazi Jewish	~13k	≈ 1 in 3,300	none seen
Middle Eastern	~2,602	≈ 1 in 1,300	none seen

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): 1 of 16 coding exons well covered in gnomAD exomes; exons 10, 11, 13, 14, 15 and 9 more poorly covered; exon 12 marginal. Genomes: 0 of 16 (exons 10, 11, 12, 13, 14 and 11 more below).? see exons ↓