C1ORF56

Chr 1

chromosome 1 open reading frame 56

Also known as: MENT

NCBI Gene: 54964ENSG00000143443UniProt: Q9BUN1

This gene is a proto-oncogene whose promoter is methylated by DNA methyltransferase 3B (DNMT3B), which represses the proto-oncogene. However, a catalytically inactive isoform of DNMT3B is overexpressed in lymphomas, leading to hypomethylation of the proto-oncogene's promoter and derepression of the proto-oncogene. [provided by RefSeq, Sep 2016]

ResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.61
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?
1.61LOEUF
pLI 0.000
Z-score 0.24
OE 0.91 (0.53–1.61)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.23Z-score
OE missense 0.95 (0.85–1.08)
187 obs / 196.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.91 (0.53–1.61)
0≤0.351.4
Missense OE?0.95 (0.85–1.08)
0≤0.61.4
Synonymous OE?0.98
0≤1.21.6
LoF obs/exp: 8 / 8.8Missense obs/exp: 187 / 196.0Syn Z: 0.13

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

C1ORF56 · 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 →

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