SSX7

Chr X

SSX family member 7

NCBI Gene: 280658ENSG00000187754UniProt: Q7RTT5OMIM: 300542

SSX7 encodes a protein that functions as a transcriptional repressor and belongs to the synovial sarcoma X breakpoint protein family. This gene is extremely intolerant to loss-of-function variants (pLI near 1.0), suggesting that haploinsufficiency would be highly deleterious, but no established Mendelian disease associations have been reported for SSX7 mutations. Unlike other SSX family members (SSX1, SSX2, SSX4), SSX7 is not involved in the characteristic chromosomal translocations found in synovial sarcomas.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 1.82
Clinical Summary— SSX7
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
49 unique Pathogenic / Likely Pathogenic· 36 VUS of 104 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.82LOEUF
pLI 0.000
Z-score -0.31
OE 1.12 (0.65–1.82)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-1.97Z-score
OE missense 1.64 (1.42–1.89)
123 obs / 75.0 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE1.12 (0.65–1.82)
0≤0.351.4
Missense OE1.64 (1.42–1.89)
0≤0.61.4
Synonymous OE1.05
0≤1.21.6
LoF obs/exp: 8 / 7.1Missense obs/exp: 123 / 75.0Syn Z: -0.22

ClinVar Variant Classifications

104 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic47
Likely Pathogenic2
VUS36
Likely Benign7
Benign2
47
Pathogenic
2
Likely Pathogenic
36
VUS
7
Likely Benign
2
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
47
0
47
Likely Pathogenic
0
0
2
0
2
VUS
0
32
4
0
36
Likely Benign
1
4
1
1
7
Benign
0
2
0
0
2
Total13854194

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

SSX7 · 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
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Novel TCR-like CAR-T cells targeting an HLA*0201-restricted SSX2 epitope display strong activity against acute myeloid leukemia
Raskin S et al.·Mol Ther Methods Clin Dev
2021
Integrating molecular interactions and gene expression to identify biomarkers to predict response to tumor necrosis factor inhibitor therapies in rheumatoid arthritis patients1
He MF et al.·Technol Health Care
2022Cohort
Higher Expression Levels of SSX1 and SSX2 in Patients with Colon Cancer: Regulated In Vitro by the Inhibition of Methylation and Histone Deacetylation
Alrubie TM et al.·Medicina (Kaunas)
2023Cohort
SSX addiction in melanoma propagates tumor growth and metastasis
Traynor S et al.·Front Oncol
2022
Identification of a Locus on the X Chromosome Linked to Familial Membranous Nephropathy
Downie ML et al.·Kidney Int Rep
2021
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 1 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

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