GOLGA6L6

Chr 15

golgin A6 family like 6 (gene/pseudogene)

NCBI Gene: 727832 ENSG00000277322 UniProt: A8MZA4

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.66

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.66LOEUF

pLI 0.000

Z-score -0.86

OE 1.20 (0.88–1.66)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-2.24Z-score

OE missense 1.50 (1.35–1.67)

237 obs / 157.9 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?1.20 (0.88–1.66)

0≤0.351.4

Missense OE?1.50 (1.35–1.67)

0≤0.61.4

Synonymous OE?1.62

0≤1.21.6

LoF obs/exp: 26 / 21.7Missense obs/exp: 237 / 157.9Syn Z: -3.24

Background carrier burden — how many people carry a rare variant somewhere in GOLGA6L6?

gnomAD v4 · ~696k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 27

317 rare PASS variants

Rare truncating (LoF)

1 in 240

92 rare PASS variants

Rare synonymous (reference)

1 in 140

78 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for GOLGA6L6. 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)	~538k	1 in 39	1 in 470
South Asian	~40k	1 in 47	1 in 140
Remaining (unassigned)	~29k	1 in 56	1 in 310
European (Finnish)	~24k	1 in 66	1 in 390
African / African American	~20k	1 in 36	1 in 100
East Asian	~19k	1 in 50	1 in 710
Admixed American	~18k	1 in 35	1 in 380
Ashkenazi Jewish	~13k	1 in 74	1 in 410
Middle Eastern	~2,526	≈ 1 in 1,800	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): 0 of 8 coding exons well covered in gnomAD exomes; exons 1, 2, 4, 5, 6 poorly covered; exons 3, 7, 8 marginal. Genomes: 0 of 8 (exons 1, 2, 3, 4, 5 and 3 more below).? see exons ↓