TPRG1

Chr 3

tumor protein p63 regulated 1

Also known as: FAM79B

NCBI Gene: 285386 ENSG00000188001 UniProt: Q6ZUI0

Located in nucleoplasm. [provided by Alliance of Genome Resources, Jun 2026]

Research

Located in nucleoplasm. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.72

LOEUF

—

Mechanism

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

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

Background carrier burden — how many people carry a rare variant somewhere in TPRG1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 180

394 rare PASS variants

Rare truncating (LoF)

1 in 620

69 rare PASS variants

Rare synonymous (reference)

1 in 310

147 rare PASS variants

Rare missense and truncating variants are carried at similar rates in TPRG1; this gene does not show strong loss-of-function constraint by this measure. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 220	1 in 510
South Asian	~43k	1 in 100	1 in 2,000
Remaining (unassigned)	~30k	1 in 150	1 in 1,400
European (Finnish)	~27k	1 in 550	1 in 3,000
Admixed American	~22k	1 in 140	1 in 1,000
African / African American	~21k	1 in 180	1 in 1,200
East Asian	~20k	1 in 99	1 in 2,800
Ashkenazi Jewish	~13k	1 in 900	≈ 1 in 6,500
Middle Eastern	~2,884	1 in 100	≈ 1 in 2,900

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 5 coding exons well covered in gnomAD exomes and genomes.? see exons ↓