COPG1

Chr 3AR

coat protein complex I subunit gamma 1

Also known as: COPG, IMD128

NCBI Gene: 22820 ENSG00000181789 UniProt: Q9Y678 OMIM: 615525

Predicted to enable structural molecule activity. Predicted to be involved in several processes, including Golgi vesicle transport; establishment of Golgi localization; and organelle transport along microtubule. Located in Golgi apparatus. Implicated in immunodeficiency 128. [provided by Alliance of Genome Resources, Jul 2025]

OMIM Research

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?Immunodeficiency 128MIM #620983

Clinical highlights

Gene–disease validity (ClinGen)

Limited · non-severe combined immunodeficiency due to COPG1 deficiency · AR · ClinGen 2024

not for standalone diagnostic reporting

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

—

LOEUF

—

Mechanism

Some data sources returned errors (1)

gnomad: TimeoutError: The operation was aborted due to timeout

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in COPG1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 82

949 rare PASS variants

Rare truncating (LoF)

1 in 2,700

77 rare PASS variants

Rare synonymous (reference)

1 in 87

427 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for COPG1. 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 110	1 in 2,800
South Asian	~43k	1 in 53	1 in 7,100
Remaining (unassigned)	~30k	1 in 60	1 in 2,500
European (Finnish)	~27k	1 in 220	1 in 860
Admixed American	~22k	1 in 67	none seen
African / African American	~21k	1 in 71	≈ 1 in 6,000
East Asian	~20k	1 in 58	1 in 2,800
Ashkenazi Jewish	~13k	1 in 590	1 in 1,100
Middle Eastern	~2,884	1 in 81	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): 23 of 24 coding exons well covered in gnomAD exomes; exon 21 marginal. Genomes: all 24.? see exons ↓