C11ORF86

Chr 11

chromosome 11 open reading frame 86

Also known as: FACI

NCBI Gene: 254439 ENSG00000173237 UniProt: A6NJI1

The protein encoded by this gene functions as a component of the mitochondrial respiratory chain complex I, catalyzing electron transfer in oxidative phosphorylation. Mutations cause mitochondrial complex I deficiency with early-onset leigh syndrome and other severe mitochondrial disorders affecting the brain, muscle, and other high-energy demanding tissues. The gene follows autosomal recessive inheritance and shows low constraint against loss-of-function variants.

Research

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.90

LOEUF

—

Mechanism

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.90LOEUF

pLI 0.000

Z-score -0.63

OE 1.29 (0.71–1.90)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.70Z-score

OE missense 0.76 (0.60–0.96)

50 obs / 65.9 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?1.29 (0.71–1.90)

0≤0.351.4

Missense OE?0.76 (0.60–0.96)

0≤0.61.4

Synonymous OE?1.18

0≤1.21.6

LoF obs/exp: 7 / 5.4Missense obs/exp: 50 / 65.9Syn Z: -0.75

Background carrier burden — how many people carry a rare variant somewhere in C11ORF86?

gnomAD v4 · ~700k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 180

150 rare PASS variants

Rare truncating (LoF)

1 in 4,600

35 rare PASS variants

Rare synonymous (reference)

1 in 450

91 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for C11ORF86. 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)	~539k	1 in 420	1 in 6,400
South Asian	~40k	1 in 280	1 in 5,600
Remaining (unassigned)	~29k	1 in 160	1 in 790
European (Finnish)	~25k	1 in 330	none seen
African / African American	~21k	1 in 200	1 in 990
East Asian	~18k	1 in 450	1 in 1,800
Admixed American	~18k	1 in 220	1 in 990
Ashkenazi Jewish	~13k	1 in 970	none seen
Middle Eastern	~2,849	1 in 260	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): All 2 coding exons well covered in gnomAD exomes and genomes.? see exons ↓