COA7

Chr 1AR

cytochrome c oxidase assembly factor 7

Also known as: C1orf163, RESA1, SCAN3, SELRC1

NCBI Gene: 65260ENSG00000162377UniProt: Q96BR5OMIM: 615623

The protein enables protein-disulfide reductase activity and is involved in respiratory chain complex IV assembly in the mitochondrial intermembrane space. Mutations cause spinocerebellar ataxia with axonal neuropathy type 3, inherited in an autosomal recessive pattern. The pathogenic mechanism involves disrupted complex IV assembly leading to mitochondrial respiratory dysfunction.

OMIMResearchSummary from RefSeq, OMIM, UniProt, Mechanism
MultiplemechanismARLOEUF 1.021 OMIM phenotype
Clinical Summary— COA7
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Gene-Disease Validity (ClinGen)
mitochondrial disease · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

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Population Constraint (gnomAD)
Low constraint (pLI 0.06) — loss-of-function variants are relatively tolerated in the population.
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ClinVar Variants
18 unique Pathogenic / Likely Pathogenic· 37 VUS of 93 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.02LOEUF
pLI 0.060
Z-score 1.55
OE 0.39 (0.18–1.02)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.67Z-score
OE missense 0.83 (0.71–0.98)
106 obs / 127.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.39 (0.18–1.02)
0≤0.351.4
Missense OE0.83 (0.71–0.98)
0≤0.61.4
Synonymous OE1.00
0≤1.21.6
LoF obs/exp: 3 / 7.6Missense obs/exp: 106 / 127.4Syn Z: 0.03
DN
0.76top 25%
GOF
0.75top 25%
LOF
0.1993th %ile

This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.

DNprediction above median
GOFprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

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

ClinVar Variant Classifications

93 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic10
Likely Pathogenic8
VUS37
Likely Benign31
Benign7
10
Pathogenic
8
Likely Pathogenic
37
VUS
31
Likely Benign
7
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
2
2
6
0
10
Likely Pathogenic
4
2
2
0
8
VUS
0
33
4
0
37
Likely Benign
0
1
11
19
31
Benign
0
1
6
0
7
Total639291993

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

View in ClinVar →

Protein Context — Lollipop Plot

COA7 · 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 3 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