C10ORF67

Chr 10

chromosome 10 open reading frame 67

Also known as: C10orf115, LINC01552

NCBI Gene: 256815ENSG00000179133UniProt: Q8IYJ2

The protein encoded by this gene is predicted to localize to the mitochondrion, though its specific function remains unclear. This gene is extremely intolerant to loss-of-function variants (pLI near 0, LOEUF 1.8), suggesting it is essential for normal cellular function. However, no definitive disease associations or inheritance patterns have been established for C10ORF67 mutations in clinical practice.

Summary from RefSeq
Research Assistant →
0
Active trials
1
Pubs (1 yr)
10
P/LP submissions
0%
P/LP missense
1.80
LOEUF
—
Mechanism
Clinical Summary— C10ORF67
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
10 unique Pathogenic / Likely Pathogenic· 1 VUS of 28 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
1.80LOEUF
pLI 0.000
Z-score -0.47
OE 1.16 (0.73–1.80)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.27Z-score
OE missense 0.92 (0.77–1.10)
86 obs / 93.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE1.16 (0.73–1.80)
0≤0.351.4
Missense OE0.92 (0.77–1.10)
0≤0.61.4
Synonymous OE0.81
0≤1.21.6
LoF obs/exp: 11 / 9.4Missense obs/exp: 86 / 93.2Syn Z: 0.90

ClinVar Variant Classifications

28 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic9
Likely Pathogenic1
VUS1
Benign8
9
Pathogenic
1
Likely Pathogenic
1
VUS
8
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
9
0
9
Likely Pathogenic
0
0
1
0
1
VUS
0
1
0
0
1
Likely Benign
0
0
0
0
0
Benign
0
0
8
0
8
Total0118019

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

View in ClinVar →

Protein Context — Lollipop Plot

C10ORF67 · protein map & ClinVar variants

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

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
A Rare PTF1A Enhancer Mutation Causing Neonatal Diabetes Mellitus with Pancreatic Agenesis: Case Report and Considerations for Genetic Evaluation
Paksaz M et al.·Int J Endocrinol Metab
2025Case report
Crohn's Disease Diagnosed in a Man with Sarcoidosis: Coincidence or Correspondence?
Mills K et al.·Case Rep Gastrointest Med
2022
A feature selection-based framework to identify biomarkers for cancer diagnosis: A focus on lung adenocarcinoma
Abdelwahab O et al.·PLoS One
2022
Machine learning-based screening of the diagnostic genes and their relationship with immune-cell infiltration in patients with lung adenocarcinoma
Wang S et al.·J Thorac Dis
2022Cohort
Gene Expression Profiling of Early Acute Febrile Stage of Dengue Infection and Its Comparative Analysis With Streptococcus pneumoniae Infection
Bajrai LH et al.·Front Cell Infect Microbiol
2021
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 2 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

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