FAM72D

Chr 1

RUMY family member 4

Also known as: FAM72D, GCUD2

NCBI Gene: 728833ENSG00000215784UniProt: Q6L9T8OMIM: 614712

Predicted to be active in cytosol. [provided by Alliance of Genome Resources, Jun 2026]

OMIMResearchGenerating clinical summary…
0
Active trials
3
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.84
LOEUF
—
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.84LOEUF
pLI 0.030
Z-score 0.19
OE 0.87 (0.33–1.84)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.69Z-score
OE missense 0.67 (0.48–0.95)
23 obs / 34.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.87 (0.33–1.84)
0≤0.351.4
Missense OE?0.67 (0.48–0.95)
0≤0.61.4
Synonymous OE?0.62
0≤1.21.6
LoF obs/exp: 2 / 2.3Missense obs/exp: 23 / 34.3Syn Z: 1.02

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

FAM72D · 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