LSM8

Chr 7

LSM8 homolog, U6 small nuclear RNA associated

NCBI Gene: 51691ENSG00000128534UniProt: O95777OMIM: 607288

This gene encodes a member of the like-Sm family of proteins. The encoded protein consists of a closed barrel shape, made up of five anti-parallel beta strands and an alpha helix. This protein partners with six paralogs to form a heteroheptameric ring which transiently binds U6 small nuclear RNAs and is involved in the general maturation of RNA in the nucleus. [provided by RefSeq, Jan 2010]

OMIMResearchGenerating clinical summary…
0
Active trials
3
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.49
LOEUF
—
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.49LOEUF
pLI 0.005
Z-score 0.75
OE 0.67 (0.33–1.49)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
1.09Z-score
OE missense 0.57 (0.42–0.78)
29 obs / 50.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.67 (0.33–1.49)
0≤0.351.4
Missense OE?0.57 (0.42–0.78)
0≤0.61.4
Synonymous OE?1.13
0≤1.21.6
LoF obs/exp: 4 / 6.0Missense obs/exp: 29 / 50.8Syn Z: -0.46

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

LSM8 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

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