BTG4

Chr 11

BTG anti-proliferation factor 4

Also known as: APRO3, OOMD8, OZEMA8, PC3B

NCBI Gene: 54766 ENSG00000137707 UniProt: Q9NY30

The protein encoded by this gene is a member of the BTG/Tob family. This family has structurally related proteins that appear to have antiproliferative properties. This encoded protein can induce G1 arrest in the cell cycle. [provided by RefSeq, Jul 2008]

Research

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtOocyte/zygote/embryo maturation arrest 8

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.74

LOEUF

Mechanism· predicted

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?

0.74LOEUF

pLI 0.167

Z-score 2.15

OE 0.29 (0.13–0.74)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

0.24Z-score

OE missense 0.94 (0.80–1.10)

111 obs / 118.4 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.29 (0.13–0.74)

0≤0.351.4

Missense OE?0.94 (0.80–1.10)

0≤0.61.4

Synonymous OE?1.05

0≤1.21.6

LoF obs/exp: 3 / 10.5Missense obs/exp: 111 / 118.4Syn Z: -0.26

Background carrier burden — how many people carry a rare variant somewhere in BTG4?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 170

319 rare PASS variants

Rare truncating (LoF)

1 in 1,200

57 rare PASS variants

Rare synonymous (reference)

1 in 460

115 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for BTG4. 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 230	1 in 1,800
South Asian	~43k	1 in 230	1 in 2,900
Remaining (unassigned)	~30k	1 in 130	1 in 950
European (Finnish)	~27k	1 in 1,700	1 in 1,600
Admixed American	~22k	1 in 150	1 in 2,400
African / African American	~21k	1 in 190	1 in 2,300
East Asian	~20k	1 in 130	1 in 1,100
Ashkenazi Jewish	~13k	≈ 1 in 5,300	≈ 1 in 13,000
Middle Eastern	~2,884	1 in 220	≈ 1 in 2,800

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): 3 of 4 coding exons well covered in gnomAD exomes; exon 4 marginal. Genomes: all 4.? see exons ↓