C1ORF52
Chr 1chromosome 1 open reading frame 52
Also known as: gm117
C1ORF52 encodes a protein that enables RNA binding activity and is located in the nucleoplasm. The gene shows low constraint against loss-of-function variants (pLI = 0.05, LOEUF = 1.10), suggesting tolerance to complete loss of gene function. Based on current databases, no specific diseases have been definitively associated with mutations in this gene.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
21 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | — | — | — | — | 14 |
Likely Pathogenic | — | — | — | — | 3 |
VUS | — | — | — | — | 2 |
Likely Benign | — | — | — | — | 0 |
Benign | — | — | — | — | 0 |
| Total | — | 19 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
C1ORF52 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools