ACSBG1

Chr 15

acyl-CoA synthetase bubblegum family member 1

Also known as: BG, BG1, BGM, GR-LACS, LPD

NCBI Gene: 23205 ENSG00000103740 UniProt: Q96GR2

The protein encoded by this gene possesses long-chain acyl-CoA synthetase activity. It is thought to play a central role in brain very long-chain fatty acids metabolism and myelinogenesis. [provided by RefSeq, Jul 2008]

Research

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.60

LOEUF

Multiple*

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?

0.60LOEUF

pLI 0.000

Z-score 3.42

OE 0.39 (0.26–0.60)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

1.83Z-score

OE missense 0.76 (0.70–0.83)

354 obs / 465.1 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.39 (0.26–0.60)

0≤0.351.4

Missense OE?0.76 (0.70–0.83)

0≤0.61.4

Synonymous OE?1.09

0≤1.21.6

LoF obs/exp: 14 / 36.2Missense obs/exp: 354 / 465.1Syn Z: -1.02

Background carrier burden — how many people carry a rare variant somewhere in ACSBG1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 50

901 rare PASS variants

Rare truncating (LoF)

1 in 1,600

120 rare PASS variants

Rare synonymous (reference)

1 in 75

423 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for ACSBG1. 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 68	1 in 1,900
South Asian	~43k	1 in 61	1 in 1,100
Remaining (unassigned)	~30k	1 in 56	1 in 1,100
European (Finnish)	~27k	1 in 140	1 in 1,800
Admixed American	~22k	1 in 59	1 in 1,600
African / African American	~21k	1 in 57	1 in 3,100
East Asian	~20k	1 in 54	1 in 2,200
Ashkenazi Jewish	~13k	1 in 310	≈ 1 in 2,600
Middle Eastern	~2,884	1 in 59	≈ 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 14 coding exons well covered in gnomAD exomes and genomes.? see exons ↓