GOLGA6B

Chr 15

golgin A6 family member B

This gene is found in a large, low copy repeat sequence or duplicon that is found in multiple copies, which are greater than 90% similar, on chromosome 15. Duplicons are associated with deletions, inversions and other chromosomal rearrangements that underlie genomic disease. This gene is a member of the golgin gene family, whose protein products localize to the Golgi apparatus. The majority of the related gene copies are thought to be transcribed pseudogenes. It is not known whether this gene is a pseudogene or if it encodes a golgin protein. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.70
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

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.70LOEUF
pLI 0.000
Z-score -0.53
OE 1.15 (0.78–1.70)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.60Z-score
OE missense 1.13 (1.00–1.28)
181 obs / 159.7 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.15 (0.78–1.70)
0≤0.351.4
Missense OE?1.13 (1.00–1.28)
0≤0.61.4
Synonymous OE?1.11
0≤1.21.6
LoF obs/exp: 17 / 14.8Missense obs/exp: 181 / 159.7Syn Z: -0.74

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

GOLGA6B · 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

No active trials found for this gene.

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