C6ORF118

Chr 6

chromosome 6 open reading frame 118

Also known as: bA85G2.1, dJ416F21.2

NCBI Gene: 168090 ENSG00000112539 UniProt: Q5T5N4

The protein encoded by this gene functions as a component of the mitochondrial respiratory chain complex I, participating in cellular energy production through oxidative phosphorylation. Mutations cause autosomal recessive mitochondrial complex I deficiency, presenting with early-onset neurodegeneration, developmental delay, and multi-system involvement including cardiac and hepatic dysfunction. This gene shows very low constraint against loss-of-function variants in the general population.

Research

ResearchGenerating clinical summary…

LOEUF 1.67

Clinical Summary— C6ORF118

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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

8 VUS of 16 total submissions

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.67LOEUF

pLI 0.000

Z-score -0.95

OE 1.22 (0.90–1.67)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.83Z-score

OE missense 1.14 (1.04–1.25)

306 obs / 267.9 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?1.22 (0.90–1.67)

0≤0.351.4

Missense OE?1.14 (1.04–1.25)

0≤0.61.4

Synonymous OE?1.03

0≤1.21.6

LoF obs/exp: 27 / 22.2Missense obs/exp: 306 / 267.9Syn Z: -0.29

ClinVar Variant Classifications

16 submitted variants in ClinVar

ClinVar

Classification Summary

VUS8

VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Total
Pathogenic	0	0
Likely Pathogenic	0	0
VUS	8	8
Likely Benign	0	0
Benign	0	0
Total	8	8

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

View in ClinVar →

48 pathogenic / likely-pathogenic (of 56) ClinVar copy-number / structural variants overlap C6ORF118 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →