THRSP

Chr 11

thyroid hormone responsive

Also known as: LPGP1, Lpgp, S14, SPOT14, THRP

NCBI Gene: 7069 ENSG00000151365 UniProt: Q92748 OMIM: 601926

The protein encoded by this gene is similar to the gene product of S14, a rat gene whose expression is limited to liver and adipose tissue and is controlled by nutritional and hormonal factors. This gene has been shown to be expressed in liver and adipocytes, particularly in lipomatous modules. It is also found to be expressed in lipogenic breast cancers, which suggests a role in controlling tumor lipid metabolism. [provided by RefSeq, Jul 2008]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.69

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.69LOEUF

pLI 0.003

Z-score 0.40

OE 0.81 (0.39–1.69)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.27Z-score

OE missense 0.92 (0.77–1.10)

82 obs / 89.3 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.81 (0.39–1.69)

0≤0.351.4

Missense OE?0.92 (0.77–1.10)

0≤0.61.4

Synonymous OE?0.69

0≤1.21.6

LoF obs/exp: 4 / 5.0Missense obs/exp: 82 / 89.3Syn Z: 1.53

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

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 420

185 rare PASS variants

Rare truncating (LoF)

1 in 1,800

23 rare PASS variants

Rare synonymous (reference)

1 in 250

76 rare PASS variants

Rare missense and truncating variants are carried at similar rates in THRSP; 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 450	1 in 1,700
South Asian	~43k	1 in 340	≈ 1 in 22,000
Remaining (unassigned)	~30k	1 in 470	1 in 3,700
European (Finnish)	~27k	1 in 3,800	1 in 750
Admixed American	~22k	1 in 240	1 in 2,500
African / African American	~21k	1 in 410	≈ 1 in 17,000
East Asian	~20k	1 in 270	1 in 1,900
Ashkenazi Jewish	~13k	1 in 920	≈ 1 in 13,000
Middle Eastern	~2,884	1 in 240	none seen

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 1 coding exons well covered in gnomAD exomes and genomes.? see exons ↓