FAM72C

Chr 1

RUMY family member 3

Also known as: FAM72C

NCBI Gene: 554282ENSG00000263513UniProt: H0Y354OMIM: 616853

Located in cytosol and intracellular membrane-bounded organelle. [provided by Alliance of Genome Resources, Apr 2025]

OMIMResearchGenerating clinical summary…
LOEUF 1.80
Clinical Summary— FAM72C
⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.00) despite low pLI — interpret in context.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.80LOEUF
pLI 0.358
Z-score 0.77
OE 0.00 (0.00–1.80)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.49Z-score
OE missense 0.68 (0.44–1.09)
13 obs / 19.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.00 (0.00–1.80)
0≤0.351.4
Missense OE?0.68 (0.44–1.09)
0≤0.61.4
Synonymous OE?0.78
0≤1.21.6
LoF obs/exp: 0 / 0.7Missense obs/exp: 13 / 19.0Syn Z: 0.43

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

FAM72C · 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.

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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