SS18

Chr 18

SS18 subunit of BAF chromatin remodeling complex

Also known as: SMARCL1, SSXT, SYT

NCBI Gene: 6760ENSG00000141380UniProt: Q15532

SS18 encodes a transcriptional coactivator that is a component of the SWI/SNF chromatin remodeling complex, which alters DNA-histone contacts in an ATP-dependent manner to regulate gene expression. Mutations cause synovial sarcoma, a malignant soft tissue tumor. The gene shows high constraint against loss-of-function variants (LOEUF 0.38), indicating intolerance to such mutations.

Summary from RefSeq, UniProt
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1
Active trials
70
Pubs (1 yr)
0
P/LP submissions
—
P/LP missense
0.38
LOEUF
—
Mechanism
Clinical Summary— SS18
⚡
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.75) — some intolerance to loss-of-function variants.
💊
Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint
0.38LOEUF
pLI 0.746
Z-score 4.15
OE 0.19 (0.10–0.38)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
1.06Z-score
OE missense 0.81 (0.72–0.91)
191 obs / 236.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.19 (0.10–0.38)
0≤0.351.4
Missense OE0.81 (0.72–0.91)
0≤0.61.4
Synonymous OE0.82
0≤1.21.6
LoF obs/exp: 6 / 30.9Missense obs/exp: 191 / 236.8Syn Z: 1.20

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SS18 · protein map & ClinVar variants

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

Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 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