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SS18 (synovial sarcoma translocation, chromosome 18)

Written2006-05Mamoru Ouchida
Department of Molecular Genetics, Graduate School of Medicine, Dentistry, Pharmaceutical Sciences, Okayama University. Shikata-cho 2-5-1, Okayama 700-8558, Japan

(Note : for Links provided by Atlas : click)


Alias (NCBI)MGC116875
HGNC (Hugo) SS18
HGNC Alias symbSYT
HGNC Previous nameSSXT
HGNC Previous namesynovial sarcoma translocation, chromosome 18
 SS18, nBAF chromatin remodeling complex subunit
LocusID (NCBI) 6760
Atlas_Id 84
Location 18q11.2  [Link to chromosome band 18q11]
Location_base_pair Starts at 26016253 and ends at 26090647 bp from pter ( according to GRCh38/hg38-Dec_2013)  [Mapping SS18.png]
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
MEF2D (1q22)::SS18 (18q11.2)SS18 (18q11.2)::DOCK2 (5q35.1)SS18 (18q11.2)::MEF2D (1q22)
SS18 (18q11.2)::NRAS (1p13.2)SS18 (18q11.2)::RINT1 (7q22.3)SS18 (18q11.2)::SLC5A11 (16p12.1)
SS18 (18q11.2)::SS18 (18q11.2)SS18 (18q11.2)::SSX1 (Xp11.23)SS18 (18q11.2)::SSX2 (Xp11.22)
SS18 (18q11.2)::SSX2B (Xp11.22)SS18 (18q11.2)::SSX4 (Xp11.23)SS18 (18q11.2)::SSX4B (Xp11.23)
SS18 (18q11.2)::SSX7 (Xp11.22)SS18 (18q11.2)::TESMIN (11q13.3)SS18 (18q11.2)::USP6 (17p13.2)
SSX1 (Xp11.23)::SS18 (18q11.2)SSX2 (Xp11.22)::SS18 (18q11.2)SSX4 (Xp11.23)::SS18 (18q11.2)
TRAPPC8 (18q12.1)::SS18 (18q11.2)


Note Member of the SS18 family. SYT, one of the alternative gene names, has continued to be used in the literature for this gene.
Description 11 exons, spaning approximately 75 kb of genomic DNA in the telomere-to-centromere orientation on chromosome 18q11.2 The promoter region lacks CAAT and TATA boxes but contains CpG islands, suggesting that SS18 is a housekeeping gene.
Transcription Exon 8 is spliced out with different ratio in the various tissues by alternative splicing.
Pseudogene SS18L2 (3p21)


Description 418 amino acids. 2 domains; the SHN domain (the SYT N-terminal homology domain) that is found in proteins from a wide variety of species ranging from plants to human, and the QPGY domain at the C-terminal part, rich in glutamine, proline, glycine and tyrosine. Four putative src-homology binding domains and two annexin-like direct repeats were exhibited in the SS18 protein. SS18 protein binds to p300, hBRM, AF10 and SIN3A proteins. The QPGY domain activates transcription when coupled to a DNA-binding domain.
Expression Ubiquitous
Localisation Nuclear
Function Transcriptional coactivator
Homology SS18L1, SS18L2

Implicated in

Entity Synovial sarcoma
Prognosis A high grade sarcoma that leads to death in at least 25% of patients within five years of diagnosis. Prognosis may be different between the synovial sarcoma patients with SYT-SSX1 and SYT-SSX2.
Hybrid/Mutated Gene SYT-SSX1, SYT-SSX2, SYT-SSX4; the exon 10 of the SS18 (SYT) gene is fused to exon 6 of the SSX genes.
Abnormal Protein The last 8 amino acid residues of the SS18 (SYT) protein are replaced by 78 amino acids from the C-terminal part of SSX proteins.




Identification of novel genes, SYT and SSX, involved in the t(X;18)(p11.2;q11.2) translocation found in human synovial sarcoma.
Clark J, Rocques PJ, Crew AJ, Gill S, Shipley J, Chan AM, Gusterson BA, Cooper CS
Nature genetics. 1994 ; 7 (4) : 502-508.
PMID 7951320
p300 interacts with the nuclear proto-oncoprotein SYT as part of the active control of cell adhesion.
Eid JE, Kung AL, Scully R, Livingston DM
Cell. 2000 ; 102 (6) : 839-848.
PMID 11030627
SYT, a partner of SYT-SSX oncoprotein in synovial sarcomas, interacts with mSin3A, a component of histone deacetylase complex.
Ito T, Ouchida M, Ito S, Jitsumori Y, Morimoto Y, Ozaki T, Kawai A, Inoue H, Shimizu K
Laboratory investigation; a journal of technical methods and pathology. 2004 ; 84 (11) : 1484-1490.
PMID 15467731
SYT-SSX gene fusion as a determinant of morphology and prognosis in synovial sarcoma.
Kawai A, Woodruff J, Healey JH, Brennan MF, Antonescu CR, Ladanyi M
The New England journal of medicine. 1998 ; 338 (3) : 153-160.
PMID 9428816
Splicing isoform of SYT-SSX fusion protein accelerates transcriptional activity and cell proliferation.
Morimoto Y, Ouchida M, Ozaki T, Kawai A, Ito T, Yoshida A, Inoue H, Shimizu K
Cancer letters. 2003 ; 199 (1) : 35-43.
PMID 12963121
A reverse transcriptase-polymerase chain reaction assay in the diagnosis of soft tissue sarcomas.
Naito N, Kawai A, Ouchida M, Dan'ura T, Morimoto Y, Ozaki T, Shimizu K, Inoue H
Cancer. 2000 ; 89 (9) : 1992-1998.
PMID 11064357
A novel fusion gene, SYT-SSX4, in synovial sarcoma.
Skytting B, Nilsson G, Brodin B, Xie Y, Lundeberg J, Uhlén M, Larsson O
Journal of the National Cancer Institute. 1999 ; 91 (11) : 974-975.
PMID 10359553
Functional domains of the SYT and SYT-SSX synovial sarcoma translocation proteins and co-localization with the SNF protein BRM in the nucleus.
Thaete C, Brett D, Monaghan P, Whitehouse S, Rennie G, Rayner E, Cooper CS, Goodwin G
Human molecular genetics. 1999 ; 8 (4) : 585-591.
PMID 10072425
Mapping and characterization of the mouse and human SS18 genes, two human SS18-like genes and a mouse Ss18 pseudogene.
de Bruijn DR, Kater-Baats E, Eleveld M, Merkx G, Geurts Van Kessel A
Cytogenetics and cell genetics. 2001 ; 92 (3-4) : 310-319.
PMID 11435705


This paper should be referenced as such :
Ouchida, M
SS18 (synovial sarcoma translocation, chromosome 18)
Atlas Genet Cytogenet Oncol Haematol. 2006;10(4):228-229.
Free journal version : [ pdf ]   [ DOI ]

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(1;18)(q22;q11) MEF2D::SS18
t(1;18)(q22;q11) SS18::MEF2D

External links


HGNC (Hugo)SS18   11340
Atlas Explorer : (Salamanque)SS18
Entrez_Gene (NCBI)SS18    SS18 subunit of BAF chromatin remodeling complex
GeneCards (Weizmann)SS18
Ensembl hg19 (Hinxton)ENSG00000141380 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000141380 [Gene_View]  ENSG00000141380 [Sequence]  chr18:26016253-26090647 [Contig_View]  SS18 [Vega]
ICGC DataPortalENSG00000141380
TCGA cBioPortalSS18
AceView (NCBI)SS18
Genatlas (Paris)SS18
SOURCE (Princeton)SS18
Genetics Home Reference (NIH)SS18
Genomic and cartography
GoldenPath hg38 (UCSC)SS18  -     chr18:26016253-26090647 -  18q11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SS18  -     18q11.2   [Description]    (hg19-Feb_2009)
GoldenPathSS18 - 18q11.2 [CytoView hg19]  SS18 - 18q11.2 [CytoView hg38]
Genome Data Viewer NCBISS18 [Mapview hg19]  
Gene and transcription
Genbank (Entrez)AF161377 AF244972 AF343880 AK289510 AK296949
RefSeq transcript (Entrez)NM_001007559 NM_001308201 NM_005637
Consensus coding sequences : CCDS (NCBI)SS18
Gene ExpressionSS18 [ NCBI-GEO ]   SS18 [ EBI - ARRAY_EXPRESS ]   SS18 [ SEEK ]   SS18 [ MEM ]
Gene Expression Viewer (FireBrowse)SS18 [ Firebrowse - Broad ]
GenevisibleExpression of SS18 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6760
GTEX Portal (Tissue expression)SS18
Human Protein AtlasENSG00000141380-SS18 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ15532   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ15532  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ15532
Domains : Interpro (EBI)SS18_fam   
Domain families : Pfam (Sanger)SSXT (PF05030)   
Domain families : Pfam (NCBI)pfam05030   
Conserved Domain (NCBI)SS18
AlphaFold pdb e-kbQ15532   
Human Protein Atlas [tissue]ENSG00000141380-SS18 [tissue]
Protein Interaction databases
IntAct (EBI)Q15532
Complex Portal (EBI)Q15532 CPX-4084 GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6A-BICRA-SMARCA2 variant
Q15532 CPX-4223 GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6B-BICRA-SMARCA2 variant
Q15532 CPX-4224 GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6B-BICRAL-SMARCA2 variant
Q15532 CPX-4225 GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6B-BICRA-SMARCA4 variant
Q15532 CPX-4226 GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6B-BICRAL-SMARCA4 variant
Q15532 CPX-4203 GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6A-BICRAL-SMARCA2 variant
Q15532 CPX-4206 GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6A-BICRA-SMARCA4 variant
Q15532 CPX-4207 GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6A-BICRAL-SMARCA4 variant
Ontologies - Pathways
Ontology : AmiGOmicrotubule cytoskeleton organization  cell morphogenesis  protein binding  nucleus  response to xenobiotic stimulus  microtubule cytoskeleton  SWI/SNF complex  nuclear receptor coactivator activity  intracellular signal transduction  positive regulation of transcription by RNA polymerase II  positive regulation of transcription by RNA polymerase II  ephrin receptor signaling pathway  npBAF complex  neuronal stem cell population maintenance  
Ontology : EGO-EBImicrotubule cytoskeleton organization  cell morphogenesis  protein binding  nucleus  response to xenobiotic stimulus  microtubule cytoskeleton  SWI/SNF complex  nuclear receptor coactivator activity  intracellular signal transduction  positive regulation of transcription by RNA polymerase II  positive regulation of transcription by RNA polymerase II  ephrin receptor signaling pathway  npBAF complex  neuronal stem cell population maintenance  
NDEx NetworkSS18
Atlas of Cancer Signalling NetworkSS18
Wikipedia pathwaysSS18
Orthology - Evolution
GeneTree (enSembl)ENSG00000141380
Phylogenetic Trees/Animal Genes : TreeFamSS18
Homologs : HomoloGeneSS18
Homology/Alignments : Family Browser (UCSC)SS18
Gene fusions - Rearrangements
Fusion : MitelmanSS18::DOCK2 [18q11.2/5q35.1]  
Fusion : MitelmanSS18::SSX1 [18q11.2/Xp11.23]  
Fusion : MitelmanSS18::SSX2 [18q11.2/Xp11.22]  
Fusion : MitelmanSS18::SSX2B [18q11.2/Xp11.22]  
Fusion : MitelmanSS18::SSX4 [18q11.2/Xp11.23]  
Fusion : MitelmanTRAPPC8::SS18 [18q12.1/18q11.2]  
Fusion : COSMICSS18 [18q11.2]  -  SSX1 [Xp11.23]  [fusion_141]  [fusion_505]  [fusion_513]  [fusion_514]  [fusion_515]  [fusion_519]  [fusion_520]  
[fusion_521]  [fusion_527]  [fusion_577]  [fusion_581]  
Fusion : COSMICSS18 [18q11.2]  -  SSX2 [Xp11.22]  [fusion_500]  [fusion_516]  [fusion_523]  [fusion_530]  [fusion_567]  [fusion_573]  [fusion_574]  
[fusion_579]  [fusion_583]  [fusion_584]  [fusion_587]  
Fusion : COSMICSS18 [18q11.2]  -  SSX4B [Xp11.23]  [fusion_502]  [fusion_507]  [fusion_525]  
Fusion : COSMICSSX1 [Xp11.23]  -  SS18 [18q11.2]  [fusion_575]  [fusion_578]  
Fusion : COSMICSSX2 [Xp11.22]  -  SS18 [18q11.2]  [fusion_524]  [fusion_576]  [fusion_580]  [fusion_585]  [fusion_586]  
Fusion : FusionHubAC010168.2--SS18    ADNP2--SS18    CDH2--SS18    CRTC1--SS18    DTNA--SS18    KIAA1328--SS18    LRG1--SS18    MBP--SS18    MEF2D--SS18    METTL15--SS18   
MIB2--SS18    MPP7--SS18    NUP54--SS18    OGT--SS18    OSBPL1A--SS18    PPP6R3--SS18    PSIP1--SS18    SAMSN1--SS18    SS18--B4GALT6    SS18--CHST9   
SS18--CSNK1E    SS18--DCUN1D4    SS18--DOCK2    SS18--H3F3B    SS18--KCTD1    SS18--LRG1    SS18--MTL5    SS18--NRAS    SS18--RINT1    SS18--SLC5A11   
SS18--SS18    SS18--SSX    SS18--SSX1    SS18--SSX2    SS18--SSX2B    SS18--SSX4    SS18--SSX4B    SS18--SSX7    SS18--SSX8    SS18--TAF4B   
SS18--ZNF521    SSX--SS18    SSX1--SS18    SSX2--SS18    SSX4--SS18    TRAPPC8--SS18    USP14--SS18    USP6--SS18    YAP1--SS18   
Fusion : QuiverSS18
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSS18 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SS18
Exome Variant ServerSS18
GNOMAD BrowserENSG00000141380
Varsome BrowserSS18
ACMGSS18 variants
Genomic Variants (DGV)SS18 [DGVbeta]
DECIPHERSS18 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSS18 
ICGC Data PortalSS18 
TCGA Data PortalSS18 
Broad Tumor PortalSS18
OASIS PortalSS18 [ Somatic mutations - Copy number]
Cancer Gene: CensusSS18 
Somatic Mutations in Cancer : COSMICSS18  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DSS18
Mutations and Diseases : HGMDSS18
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
DgiDB (Drug Gene Interaction Database)SS18
DoCM (Curated mutations)SS18
CIViC (Clinical Interpretations of Variants in Cancer)SS18
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Genetic Testing Registry SS18
NextProtQ15532 [Medical]
Target ValidationSS18
Huge Navigator SS18 [HugePedia]
Clinical trials, drugs, therapy
Protein Interactions : CTDSS18
Pharm GKB GenePA36164
Clinical trialSS18
canSAR (ICR)SS18
DataMed IndexSS18
PubMed90 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Jan 20 14:18:12 CET 2022

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