C1ORF94

Chr 1

chromosome 1 open reading frame 94

NCBI Gene: 84970ENSG00000142698UniProt: Q6P1W5OMIM: 618682

This gene encodes a protein of unknown function. Biallelic mutations cause autosomal recessive severe early-onset epileptic encephalopathy with developmental delay and intellectual disability. The gene shows relatively low constraint against loss-of-function variants.

OMIMResearch
LOEUF 0.59
Clinical Summary— C1ORF94
⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.33) despite low pLI — interpret in context.
📋
ClinVar Variants
6 unique Pathogenic / Likely Pathogenic· 9 VUS of 20 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint
0.59LOEUF
pLI 0.009
Z-score 3.07
OE 0.33 (0.19–0.59)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
0.25Z-score
OE missense 0.96 (0.88–1.05)
319 obs / 331.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.33 (0.19–0.59)
0≤0.351.4
Missense OE0.96 (0.88–1.05)
0≤0.61.4
Synonymous OE0.93
0≤1.21.6
LoF obs/exp: 8 / 24.4Missense obs/exp: 319 / 331.9Syn Z: 0.69

ClinVar Variant Classifications

20 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic5
Likely Pathogenic1
VUS9
Likely Benign2
5
Pathogenic
1
Likely Pathogenic
9
VUS
2
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
5
0
5
Likely Pathogenic
0
0
1
0
1
VUS
0
6
3
0
9
Likely Benign
0
1
0
1
2
Benign
0
0
0
0
0
Total079117

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

View in ClinVar →

Protein Context — Lollipop Plot

C1ORF94 · 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
Prognostic Values of BolA Family Member Expression in Hepatocellular Carcinoma
Wang D et al.·Biomed Res Int
2022
Cuproptosis related genes associated with Jab1 shapes tumor microenvironment and pharmacological profile in nasopharyngeal carcinoma
Wang L et al.·Front Immunol
2022
Molecular Signatures of Cancer Stemness Characterize the Correlations with Prognosis and Immune Landscape and Predict Risk Stratification in Pheochromocytomas and Paragangliomas
Li L et al.·Bioengineering (Basel)
2025
Integrated Transcriptome Profiling Identifies Prognostic Hub Genes as Therapeutic Targets of Glioblastoma: Evidenced by Bioinformatics Analysis
Nayak C et al.·ACS Omega
2022
Uncovering biomarkers and pathways in oral squamous cell carcinoma through integrated lncRNA-mRNA regulatory network analysis
Liu S et al.·Discov Oncol
2025
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 1 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