LSM7

Chr 19AR

LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated

Also known as: LDCA, YNL147W

NCBI Gene: 51690ENSG00000130332UniProt: Q9UK45OMIM: 607287

LSM7 encodes a component of the LSM2-8 complex that binds to U6 snRNA and functions in pre-mRNA splicing as part of the U4/U6-U5 tri-snRNP complex during spliceosome assembly. Mutations cause autosomal recessive leukodystrophy and cerebellar atrophy. This affects the central nervous system with involvement of both white matter and the cerebellum.

OMIMResearchSummary from RefSeq, OMIM, UniProt
ARLOEUF 0.841 OMIM phenotype
Clinical Summary— LSM7
⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.18) despite low pLI — interpret in context.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.84LOEUF
pLI 0.462
Z-score 1.82
OE 0.18 (0.06–0.84)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
1.43Z-score
OE missense 0.45 (0.32–0.63)
24 obs / 53.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.18 (0.06–0.84)
0≤0.351.4
Missense OE0.45 (0.32–0.63)
0≤0.61.4
Synonymous OE1.19
0≤1.21.6
LoF obs/exp: 1 / 5.7Missense obs/exp: 24 / 53.5Syn Z: -0.71

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

LSM7 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 3 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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