TPRG1

Chr 3

tumor protein p63 regulated 1

Also known as: FAM79B

NCBI Gene: 285386ENSG00000188001UniProt: Q6ZUI0OMIM: 611460

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

OMIMResearchGenerating clinical summary…
LOEUF 1.72
Clinical Summary— TPRG1
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Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available
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?
1.72LOEUF
pLI 0.000
Z-score -0.42
OE 1.13 (0.74–1.72)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.48Z-score
OE missense 1.11 (0.98–1.26)
169 obs / 152.3 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.13 (0.74–1.72)
0≤0.351.4
Missense OE?1.11 (0.98–1.26)
0≤0.61.4
Synonymous OE?1.05
0≤1.21.6
LoF obs/exp: 14 / 12.4Missense obs/exp: 169 / 152.3Syn Z: -0.30

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TPRG1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

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