B4GAT1-DT

Chr 11

B4GAT1 divergent transcript

NCBI Gene: 102724064 ENSG00000255468

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.90

LOEUF

—

Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.90LOEUF

pLI 0.021

Z-score -0.19

OE 1.15 (0.40–1.90)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.83Z-score

OE missense 0.70 (0.55–0.90)

42 obs / 60.1 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?1.15 (0.40–1.90)

0≤0.351.4

Missense OE?0.70 (0.55–0.90)

0≤0.61.4

Synonymous OE?0.81

0≤1.21.6

LoF obs/exp: 2 / 1.7Missense obs/exp: 42 / 60.1Syn Z: 0.80

Background carrier burden — how many people carry a rare variant somewhere in B4GAT1-DT?

gnomAD v4 · ~268k individuals · PASS only

Rare means allele frequency under

Rare missense

none observed

0 rare PASS variants

Rare truncating (LoF)

1 in 41,000

4 rare PASS variants

Rare synonymous (reference)

none observed

0 rare PASS variants

Rare missense and truncating variants are carried at similar rates in B4GAT1-DT; 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 · 4 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~172k	none seen	1 in 28,000
South Asian	~30k	none seen	≈ 1 in 30,000
Admixed American	~15k	none seen	≈ 1 in 15,000
Ashkenazi Jewish	~9,331	none seen	1 in 870

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.