MROH5

Chr 8

maestro heat like repeat family member 5 (gene/pseudogene)

NCBI Gene: 389690ENSG00000226807UniProt: Q6ZUA9

Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

Research Assistant →
0
Active trials
1
Pubs (1 yr)
0
P/LP submissions
—
P/LP missense
1.75
LOEUF
DN
Mechanism· predicted
Clinical Summary— MROH5
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.01) — loss-of-function variants are relatively tolerated in the population.
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
1.75LOEUF
pLI 0.010
Z-score 0.38
OE 0.79 (0.35–1.75)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.19Z-score
OE missense 1.07 (0.88–1.31)
68 obs / 63.7 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.79 (0.35–1.75)
0≤0.351.4
Missense OE1.07 (0.88–1.31)
0≤0.61.4
Synonymous OE0.99
0≤1.21.6
LoF obs/exp: 3 / 3.8Missense obs/exp: 68 / 63.7Syn Z: 0.03
DN
0.6646th %ile
GOF
0.6346th %ile
LOF
0.3066th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

MROH5 · 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