MRGBP

Chr 20

MRG domain binding protein

Also known as: C20orf20, Eaf7, MRG15BP, URCC4

NCBI Gene: 55257ENSG00000101189UniProt: Q9NV56

Involved in positive regulation of double-strand break repair via homologous recombination and regulation of cell cycle. Located in nucleoplasm. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.35
LOEUF
LOF
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.35LOEUF
pLI 0.931
Z-score 2.71
OE 0.00 (0.00–0.35)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?
2.24Z-score
OE missense 0.41 (0.32–0.52)
46 obs / 113.2 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.00 (0.00–0.35)
0≤0.351.4
Missense OE?0.41 (0.32–0.52)
0≤0.61.4
Synonymous OE?0.94
0≤1.21.6
LoF obs/exp: 0 / 8.5Missense obs/exp: 46 / 113.2Syn Z: 0.31

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

MRGBP · 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