COG7

Chr 16AR

component of oligomeric golgi complex 7

ENSG00000168434UniProt: P83436OMIM: 606978

The COG7 protein is a subunit of the conserved oligomeric Golgi (COG) complex that is required for normal Golgi morphology and function. Mutations cause congenital disorder of glycosylation type IIe, an autosomal recessive condition affecting protein glycosylation. This gene shows moderate constraint against loss-of-function variants (LOEUF 0.661) and has detailed clinical information available in GeneReviews.

OMIMResearchSummary from RefSeq, OMIM, UniProt
LOFmechanismARLOEUF 0.661 OMIM phenotype
Clinical Summary— COG7
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Gene-Disease Validity (ClinGen)
COG7-congenital disorder of glycosylation · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

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Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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ClinVar Variants
19 unique Pathogenic / Likely Pathogenic· 107 VUS of 300 total submissions
Explore recent and relevant literature in Research Assistant →
Some data sources returned errors (1)

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.66LOEUF
pLI 0.000
Z-score 3.26
OE 0.45 (0.31–0.66)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
0.76Z-score
OE missense 0.90 (0.82–0.98)
382 obs / 426.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.45 (0.31–0.66)
0≤0.351.4
Missense OE0.90 (0.82–0.98)
0≤0.61.4
Synonymous OE0.96
0≤1.21.6
LoF obs/exp: 18 / 40.4Missense obs/exp: 382 / 426.0Syn Z: 0.38
Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗
definitiveCOG7-related congenital disorder of glycosylationLOFAR

Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.

DN
0.6552th %ile
GOF
0.6344th %ile
LOF
0.3066th %ile

The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

300 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic12
Likely Pathogenic7
VUS107
Likely Benign158
Benign3
Conflicting1
12
Pathogenic
7
Likely Pathogenic
107
VUS
158
Likely Benign
3
Benign
1
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
8
0
4
0
12
Likely Pathogenic
5
1
1
0
7
VUS
0
101
6
0
107
Likely Benign
0
2
79
77
158
Benign
0
0
3
0
3
Conflicting
—1
Total131049377288

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

COG7 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients