SS18

Chr 18

SS18 subunit of BAF chromatin remodeling complex

Also known as: SMARCL1, SSXT, SYT

NCBI Gene: 6760 ENSG00000141380 UniProt: Q15532 OMIM: 600192

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.

OMIM ResearchSummary from RefSeq, UniProt

Enables transcription coactivator activity. Involved in positive regulation of transcription by RNA polymerase II. Part of SWI/SNF complex. Implicated in synovial sarcoma. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

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Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.38

LOEUF

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Mechanism