LST1

Chr 6

leukocyte specific transcript 1

Also known as: B144, D6S49E, LST-1

NCBI Gene: 7940ENSG00000204482UniProt: O00453

The protein encoded by this gene is a membrane protein that can inhibit the proliferation of lymphocytes. Expression of this gene is enhanced by lipopolysaccharide, interferon-gamma, and bacteria. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

ResearchGenerating clinical summary…
2
Active trials
10
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.88
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?
1.88LOEUF
pLI 0.001
Z-score -0.26
OE 1.15 (0.54–1.88)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.01Z-score
OE missense 0.99 (0.80–1.25)
53 obs / 53.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.15 (0.54–1.88)
0≤0.351.4
Missense OE?0.99 (0.80–1.25)
0≤0.61.4
Synonymous OE?1.24
0≤1.21.6
LoF obs/exp: 4 / 3.5Missense obs/exp: 53 / 53.3Syn Z: -0.93

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

LST1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients