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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:SS18L1-SQSTM1

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: SS18L1-SQSTM1
FusionPDB ID: 86673
FusionGDB2.0 ID: 86673
HgeneTgene
Gene symbol

SS18L1

SQSTM1

Gene ID

26039

8878

Gene nameSS18L1 subunit of BAF chromatin remodeling complexsequestosome 1
SynonymsCREST|LP2261A170|DMRV|FTDALS3|NADGP|OSIL|PDB3|ZIP3|p60|p62|p62B
Cytomap

20q13.33

5q35.3

Type of geneprotein-codingprotein-coding
Descriptioncalcium-responsive transactivatorSS18-like protein 1SS18L1, nBAF chromatin remodeling complex subunitSYT homolog 1synovial sarcoma translocation gene on chromosome 18-like 1sequestosome-1EBI3-associated protein of 60 kDaEBI3-associated protein p60EBIAPautophagy receptor p62oxidative stress induced likephosphotyrosine independent ligand for the Lck SH2 domain p62phosphotyrosine-independent ligand for the Lck SH2 domain
Modification date2020031320200327
UniProtAcc

O75177

Q13501

Ensembl transtripts involved in fusion geneENST idsENST00000331758, ENST00000421564, 
ENST00000370848, ENST00000491916, 
ENST00000360718, ENST00000389805, 
ENST00000402874, ENST00000506690, 
ENST00000510187, ENST00000376929, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score11 X 8 X 7=61633 X 21 X 17=11781
# samples 1238
** MAII scorelog2(12/616*10)=-2.35989594508638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(38/11781*10)=-4.95431877505661
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: SS18L1 [Title/Abstract] AND SQSTM1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)SS18L1(60718945)-SQSTM1(179263436), # samples:1
Anticipated loss of major functional domain due to fusion event.SS18L1-SQSTM1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
SS18L1-SQSTM1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
SS18L1-SQSTM1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
SS18L1-SQSTM1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
TgeneSQSTM1

GO:0006914

autophagy

20452972

TgeneSQSTM1

GO:0007032

endosome organization

27368102

TgeneSQSTM1

GO:0031397

negative regulation of protein ubiquitination

20452972

TgeneSQSTM1

GO:0061635

regulation of protein complex stability

25127057

TgeneSQSTM1

GO:1905719

protein localization to perinuclear region of cytoplasm

27368102


check buttonFusion gene breakpoints across SS18L1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across SQSTM1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4STADTCGA-BR-7722-01ASS18L1chr20

60718945

+SQSTM1chr5

179263436

+


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)
ENST00000421564SS18L1chr2060718945+ENST00000376929SQSTM1chr5179263436+176412416271079182
ENST00000331758SS18L1chr2060718945+ENST00000376929SQSTM1chr5179263436+17359515981050182

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000421564ENST00000376929SS18L1chr2060718945+SQSTM1chr5179263436+0.85668420.14331584
ENST00000331758ENST00000376929SS18L1chr2060718945+SQSTM1chr5179263436+0.84289820.1571018

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>86673_86673_1_SS18L1-SQSTM1_SS18L1_chr20_60718945_ENST00000331758_SQSTM1_chr5_179263436_ENST00000376929_length(amino acids)=182AA_BP=
MGPGIVLTHGGHGHLLFQGQAGLTWKVKQGSSPCLQENSADCSAGELRGPGKELWSPIQQVTATSSKWAQFVLPPRKSSHVDSEQPRSLQ
RDPRPAGPAQAKQGTPRAQASREGLSRPTAAVQLPRATHPVTSGSERPCGKTSWDARTPWAEGGPLVLEAQNPRPTRLCDLFITGEDFDD

--------------------------------------------------------------

>86673_86673_2_SS18L1-SQSTM1_SS18L1_chr20_60718945_ENST00000421564_SQSTM1_chr5_179263436_ENST00000376929_length(amino acids)=182AA_BP=
MGPGIVLTHGGHGHLLFQGQAGLTWKVKQGSSPCLQENSADCSAGELRGPGKELWSPIQQVTATSSKWAQFVLPPRKSSHVDSEQPRSLQ
RDPRPAGPAQAKQGTPRAQASREGLSRPTAAVQLPRATHPVTSGSERPCGKTSWDARTPWAEGGPLVLEAQNPRPTRLCDLFITGEDFDD

--------------------------------------------------------------

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Fusion Protein Functional Features


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr20:60718945/chr5:179263436)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SS18L1

O75177

SQSTM1

Q13501

FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Autophagy receptor required for selective macroautophagy (aggrephagy). Functions as a bridge between polyubiquitinated cargo and autophagosomes. Interacts directly with both the cargo to become degraded and an autophagy modifier of the MAP1 LC3 family (PubMed:16286508, PubMed:20168092, PubMed:24128730, PubMed:28404643, PubMed:22622177). Along with WDFY3, involved in the formation and autophagic degradation of cytoplasmic ubiquitin-containing inclusions (p62 bodies, ALIS/aggresome-like induced structures). Along with WDFY3, required to recruit ubiquitinated proteins to PML bodies in the nucleus (PubMed:24128730, PubMed:20168092). May regulate the activation of NFKB1 by TNF-alpha, nerve growth factor (NGF) and interleukin-1. May play a role in titin/TTN downstream signaling in muscle cells. May regulate signaling cascades through ubiquitination. Adapter that mediates the interaction between TRAF6 and CYLD (By similarity). May be involved in cell differentiation, apoptosis, immune response and regulation of K(+) channels. Involved in endosome organization by retaining vesicles in the perinuclear cloud: following ubiquitination by RNF26, attracts specific vesicle-associated adapters, forming a molecular bridge that restrains cognate vesicles in the perinuclear region and organizes the endosomal pathway for efficient cargo transport (PubMed:27368102). Promotes relocalization of 'Lys-63'-linked ubiquitinated STING1 to autophagosomes (PubMed:29496741). Acts as an activator of the NFE2L2/NRF2 pathway via interaction with KEAP1: interaction inactivates the BCR(KEAP1) complex, promoting nuclear accumulation of NFE2L2/NRF2 and subsequent expression of cytoprotective genes (PubMed:20452972, PubMed:28380357, PubMed:33393215). {ECO:0000250|UniProtKB:O08623, ECO:0000250|UniProtKB:Q64337, ECO:0000269|PubMed:10356400, ECO:0000269|PubMed:10747026, ECO:0000269|PubMed:11244088, ECO:0000269|PubMed:12471037, ECO:0000269|PubMed:15340068, ECO:0000269|PubMed:15802564, ECO:0000269|PubMed:15911346, ECO:0000269|PubMed:15953362, ECO:0000269|PubMed:16079148, ECO:0000269|PubMed:16286508, ECO:0000269|PubMed:19931284, ECO:0000269|PubMed:20168092, ECO:0000269|PubMed:20452972, ECO:0000269|PubMed:22622177, ECO:0000269|PubMed:24128730, ECO:0000269|PubMed:27368102, ECO:0000269|PubMed:28380357, ECO:0000269|PubMed:28404643, ECO:0000269|PubMed:29496741, ECO:0000269|PubMed:33393215}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

* Minus value of BPloci means that the break pointn is located before the CDS.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneSQSTM1chr20:60718945chr5:179263436ENST0000036071857389_434304.3333333333333357.0DomainUBA
TgeneSQSTM1chr20:60718945chr5:179263436ENST0000037692979389_434304.3333333333333357.0DomainUBA
TgeneSQSTM1chr20:60718945chr5:179263436ENST0000038980568389_434388.3333333333333441.0DomainUBA
TgeneSQSTM1chr20:60718945chr5:179263436ENST0000040287468389_434304.3333333333333357.0DomainUBA
TgeneSQSTM1chr20:60718945chr5:179263436ENST0000036071857336_341304.3333333333333357.0MotifNote=LIR
TgeneSQSTM1chr20:60718945chr5:179263436ENST0000037692979336_341304.3333333333333357.0MotifNote=LIR
TgeneSQSTM1chr20:60718945chr5:179263436ENST0000040287468336_341304.3333333333333357.0MotifNote=LIR
TgeneSQSTM1chr20:60718945chr5:179263436ENST0000036071857321_342304.3333333333333357.0RegionMAP1LC3B-binding
TgeneSQSTM1chr20:60718945chr5:179263436ENST0000037692979321_342304.3333333333333357.0RegionMAP1LC3B-binding
TgeneSQSTM1chr20:60718945chr5:179263436ENST0000040287468321_342304.3333333333333357.0RegionMAP1LC3B-binding

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSS18L1chr20:60718945chr5:179263436ENST00000331758+111190_39623.0397.0Compositional biasNote=Gln-rich
HgeneSS18L1chr20:60718945chr5:179263436ENST00000370848+111190_3960.01118.0Compositional biasNote=Gln-rich
HgeneSS18L1chr20:60718945chr5:179263436ENST00000421564+112190_39623.01125.3333333333333Compositional biasNote=Gln-rich
HgeneSS18L1chr20:60718945chr5:179263436ENST00000331758+111353_35623.0397.0MotifSH2-binding
HgeneSS18L1chr20:60718945chr5:179263436ENST00000331758+111371_37923.0397.0MotifSH3-binding
HgeneSS18L1chr20:60718945chr5:179263436ENST00000331758+111391_39423.0397.0MotifSH2-binding
HgeneSS18L1chr20:60718945chr5:179263436ENST00000331758+11150_5323.0397.0MotifSH2-binding
HgeneSS18L1chr20:60718945chr5:179263436ENST00000370848+111353_3560.01118.0MotifSH2-binding
HgeneSS18L1chr20:60718945chr5:179263436ENST00000370848+111371_3790.01118.0MotifSH3-binding
HgeneSS18L1chr20:60718945chr5:179263436ENST00000370848+111391_3940.01118.0MotifSH2-binding
HgeneSS18L1chr20:60718945chr5:179263436ENST00000370848+11150_530.01118.0MotifSH2-binding
HgeneSS18L1chr20:60718945chr5:179263436ENST00000421564+112353_35623.01125.3333333333333MotifSH2-binding
HgeneSS18L1chr20:60718945chr5:179263436ENST00000421564+112371_37923.01125.3333333333333MotifSH3-binding
HgeneSS18L1chr20:60718945chr5:179263436ENST00000421564+112391_39423.01125.3333333333333MotifSH2-binding
HgeneSS18L1chr20:60718945chr5:179263436ENST00000421564+11250_5323.01125.3333333333333MotifSH2-binding
HgeneSS18L1chr20:60718945chr5:179263436ENST00000331758+111149_23223.0397.0RegionMethionine-rich intra-molecular domain
HgeneSS18L1chr20:60718945chr5:179263436ENST00000331758+111246_31723.0397.0RegionMFD domain
HgeneSS18L1chr20:60718945chr5:179263436ENST00000331758+111334_39623.0397.0RegionNecessary for nuclear localization
HgeneSS18L1chr20:60718945chr5:179263436ENST00000370848+111149_2320.01118.0RegionMethionine-rich intra-molecular domain
HgeneSS18L1chr20:60718945chr5:179263436ENST00000370848+111246_3170.01118.0RegionMFD domain
HgeneSS18L1chr20:60718945chr5:179263436ENST00000370848+111334_3960.01118.0RegionNecessary for nuclear localization
HgeneSS18L1chr20:60718945chr5:179263436ENST00000421564+112149_23223.01125.3333333333333RegionMethionine-rich intra-molecular domain
HgeneSS18L1chr20:60718945chr5:179263436ENST00000421564+112246_31723.01125.3333333333333RegionMFD domain
HgeneSS18L1chr20:60718945chr5:179263436ENST00000421564+112334_39623.01125.3333333333333RegionNecessary for nuclear localization
TgeneSQSTM1chr20:60718945chr5:179263436ENST0000036071857272_294304.3333333333333357.0Compositional biasNote=Ser-rich
TgeneSQSTM1chr20:60718945chr5:179263436ENST0000037692979272_294304.3333333333333357.0Compositional biasNote=Ser-rich
TgeneSQSTM1chr20:60718945chr5:179263436ENST0000038980568272_294388.3333333333333441.0Compositional biasNote=Ser-rich
TgeneSQSTM1chr20:60718945chr5:179263436ENST0000040287468272_294304.3333333333333357.0Compositional biasNote=Ser-rich
TgeneSQSTM1chr20:60718945chr5:179263436ENST00000360718573_102304.3333333333333357.0DomainPB1
TgeneSQSTM1chr20:60718945chr5:179263436ENST00000376929793_102304.3333333333333357.0DomainPB1
TgeneSQSTM1chr20:60718945chr5:179263436ENST00000389805683_102388.3333333333333441.0DomainPB1
TgeneSQSTM1chr20:60718945chr5:179263436ENST00000402874683_102304.3333333333333357.0DomainPB1
TgeneSQSTM1chr20:60718945chr5:179263436ENST0000036071857228_233304.3333333333333357.0MotifNote=TRAF6-binding
TgeneSQSTM1chr20:60718945chr5:179263436ENST0000037692979228_233304.3333333333333357.0MotifNote=TRAF6-binding
TgeneSQSTM1chr20:60718945chr5:179263436ENST0000038980568228_233388.3333333333333441.0MotifNote=TRAF6-binding
TgeneSQSTM1chr20:60718945chr5:179263436ENST0000038980568336_341388.3333333333333441.0MotifNote=LIR
TgeneSQSTM1chr20:60718945chr5:179263436ENST0000040287468228_233304.3333333333333357.0MotifNote=TRAF6-binding
TgeneSQSTM1chr20:60718945chr5:179263436ENST0000036071857170_220304.3333333333333357.0RegionNote=LIM protein-binding (LB)
TgeneSQSTM1chr20:60718945chr5:179263436ENST0000037692979170_220304.3333333333333357.0RegionNote=LIM protein-binding (LB)
TgeneSQSTM1chr20:60718945chr5:179263436ENST0000038980568170_220388.3333333333333441.0RegionNote=LIM protein-binding (LB)
TgeneSQSTM1chr20:60718945chr5:179263436ENST0000038980568321_342388.3333333333333441.0RegionMAP1LC3B-binding
TgeneSQSTM1chr20:60718945chr5:179263436ENST0000040287468170_220304.3333333333333357.0RegionNote=LIM protein-binding (LB)
TgeneSQSTM1chr20:60718945chr5:179263436ENST0000036071857122_167304.3333333333333357.0Zinc fingerZZ-type
TgeneSQSTM1chr20:60718945chr5:179263436ENST0000037692979122_167304.3333333333333357.0Zinc fingerZZ-type
TgeneSQSTM1chr20:60718945chr5:179263436ENST0000038980568122_167388.3333333333333441.0Zinc fingerZZ-type
TgeneSQSTM1chr20:60718945chr5:179263436ENST0000040287468122_167304.3333333333333357.0Zinc fingerZZ-type


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Fusion Protein-Protein Interaction


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type from validated records (BIOGRID-3.4.160)
GenePPI interactors
SQSTM1GABARAPL2, RAD23A, GABARAPL1, SQSTM1, LINC00341, MAP1LC3B, TRAF6, PRKCZ, IRAK1, PRKCI, NTRK1, RIPK1, NTRK2, NTRK3, LCK, MAP1LC3A, Shank1, Dlg4, Grin2a, Gria1, Chrna7, KEAP1, GABARAP, C10orf2, ABHD10, CEP78, DIP2B, BLOC1S5, EMILIN3, NSUN4, OSBPL8, INA, NIPSNAP1, GBAS, LLGL1, HADHA, GPC4, HADHB, CTNND1, ASPH, ENPP1, TRMT61B, GLG1, MRPL38, NEFM, GTF3C3, SRRM2, MYD88, MYC, MAP3K3, MAP2K5, IRF8, TRIM21, CYLD, Cep78, Poc1b, CALM1, BNIP1, NFE2L2, CUL3, PIK3CA, PPHLN1, BPTF, UBC, DAZAP2, CDC37, TRIM13, CASP8, PCK1, STAT5A, PDE4A, MAPT, ATG4B, CHMP2B, TARDBP, CUL1, CUL2, HDAC6, ATG7, FUS, CSNK2A1, ZFAND5, TUBA1A, WDFY3, ATG8, BAG3, NBR1, SNCA, TRIM63, TRIM55, TTN, RARA, PSMC2, PSMD4, MAP1LC3C, TRIM50, ARHGEF28, TGM2, PAWR, RPTOR, MTOR, AKT1S1, MLST8, RPS6KB1, RRAGC, RRAGB, CDK9, tat, SPRED2, TRIM5, AJUBA, LIMD1, MAPK14, PARP10, vif, nef, TNFRSF10A, HTT, HNRNPA2B1, SDHA, CAV1, BID, FAS, SESN2, SESN1, MALT1, IKBKG, FHOD3, NOD2, SYNPO2, PYCARD, MLH1, PARK2, BCL2, PAN2, NPM1, MBP, YWHAZ, STXBP1, FKBP4, MEIS2, TKT, HSPA4, RELN, CAMK2A, ULK2, NCOR1, NGFR, env, HIV2gp7, CALCOCO2, Prkci, CDK1, CCNB1, PRKCD, MAPK1, SMAD3, EEF1D, RPL37, GEMIN4, DVL2, CHAF1A, TP53, CASP9, HIF1A, PSMD12, PSMD3, FLNB, PSMD10, TXNL1, TNK2, LGALS3, EDEM1, CFTR, CSNK2A2, DCP2, EGLN3, EPAS1, ULK1, TOLLIP, OPTN, ATXN3, STUB1, ISG15, MOV10, NXF1, CUL7, PIK3R1, PIK3R2, AGAP1, INSR, Ubc, TBK1, CRHBP, SCCPDH, DNAI1, DNAI2, TP53INP1, LLGL2, HSPB1, Ripk3, Nr2f2, IFI16, KIAA0753, MED4, CEP135, CNTRL, SASS6, TMEM17, XPO1, CD44, KIF5B, PML, Mgp, Poc1a, Fgfr1op, ENC1, SKI, TRIB3, RBM45, MAPK13, CHDH, EPDR1, GAS6, NDUFS2, NDUFS3, GFM2, NDUFA5, CD48, LDHA, RCN2, TRAF1, GBP2, KLHL3, EPM2A, RAD54L2, HSPA5, GRIA1, UBXN1, PEX5, BCL10, ATG5, CSNK1A1, VANGL2, SERPINA1, RNF168, LRRK2, VHL, TCEB2, TCEB1, RNF166, NOTCH1, RETN, KERA, INSL5, TMX1, VWCE, CD96, HTR3A, RNF26, INO80B, DLST, TRIM25, PLIN1, TES, WDR81, PSMA6, TRIM23, PGI1, UBE2D2, UBE2D3, ID1, ID2, TAX1BP1, Map1lc3b, UBD, RMND5A, RIPK4, MAPK6, TMPO, AIM2, TRIM11, TNFAIP3, VDR, NEDD4, CNOT2, WDR77, KRAS, RXRA, TGFB1, TRIP4, C19orf80, CCNF, VIM, FLNA, RAD51, NR4A1, RAD18, REL, RELA, RNF4, RNF31, PARK7, MYO6, XIAP, DDX5, CCND1, BPLF1, ESR2, BBC3, CDC6, BRCA1, CRYAB, DNAJC10, PADI1, CALCR, USP14, DDX58, Gabarapl1, MB21D1, SMN1, CRBN, FBL, ELAVL1, KIAA1429, AMBRA1, VCP, LAMP2, ATG16L1, LRRK1, PHB, BECN1, SOX2, PARP1, USP10, MTDH, FUNDC1, GBF1, MECOM, DCAF15, asp, SHMT2, CCT7, SLIRP, SND1, FADD, BIRC2, DYRK1A, PINK1, RB1CC1, IFITM3, P2RY6, GCH1, NUB1, PPP1CA, Casp8, FBXW7, BIRC3, LMBR1L, IGF2BP1, SERPINE2, MYO5A, FN1, CTHRC1, CD59, ITIH5, TNC, SNTB1, ROBO1, TUBB2A, GDF15, CNP, RAI14, ACSL3, CEP170, TAOK2, CNST, SSR3, SLC25A11, SPATA20, FARP1, UTRN, DHX33, CHCHD3, HS2ST1, PTRH2, SOD3, BCKDK, CCDC77, IQGAP1, FKBP11, CEP350, SCO1, SNTB2, MTX2, MYO1B, PWP1, SRPR, ATAD3A, ACTR1A, SLC25A1, MOGS, GOLGA2, SMG8, DYNC1LI2, UQCRH, SRPK2, CAPZA2, POLRMT, SMARCD1, GNB1, HSD17B12, DYNC1LI1, AIFM1, DARS2, GNAI2, TUBA1C, TUBA1B, MRPS28, CEP131, WDR82, PAFAH1B1, TUBB, MRPS34, ATP5A1, NOL9, ZC3H4, ATP5B, MRPS26, MRPS18B, ERAL1, PNKP, MIB1, SRP14, SLC25A3, MRPS22, CEP250, CCDC61, CKAP4, RPS16, BICD1, RPS15, ATP5H, AP2B1, NFIX, CDK5RAP2, RRBP1, SLC25A4, RPS5, TPX2, AP2A2, IK, PPP2R1A, GOLGB1, MPRIP, AHNAK, PCNT, RPS24, CETN2, HNRNPUL1, PRRC2A, DAP3, PIBF1, TJP1, RFC4, NOL8, CEP290, MAGI1, ZNF384, IQSEC1, TAOK1, PGAM5, SMG1, GAPVD1, MRPS9, ATAD3B, CSTF3, FRYL, EPRS, ARHGEF18, SNAP23, PRPF38A, RBM12B, SLC25A10, UTP23, FGFR1OP, SMU1, RAPGEF2, OFD1, PARD3, S100A9, EIF4B, EIF5B, IGF2BP3, ATXN1, HCVgp1, IKBKB, SKP2, PHB2, PLN, MAVS, APAF1, ECSIT, G3BP1, G3BP2, BNIP3, BNIP3L, CALR, DAXX, LINC01554, HMOX1, KAT5, PDPK1, PXN, RAF1, SH3BGRL, ORF7a, E, nsp6, ORF6, ORF8, ESR1, TRIM32, RQCD1, CIT, ANLN, AURKB, CHMP4B, ECT2, KIF14, KIF20A, KIF23, PRC1, PDCD4, BRD1, FIS1, MARCH5, MFN2, OCIAD1, ABL1, Rnf183, AGR2, HULC, NLRP3, NUPR1, USP8, GSK3B, UCHL5, FAM20C, GJA1, CCDC88C, PRDM9, PPIA, USP20, USP19, OTUD7B, JOSD1, IRF3, STK17A, OGT, BAG5, PSMB2, PSMD14, TRIM37, AR, MCL1, AMOT, B3GAT1, GJD3, GOLGA1, IMPDH2, KRT8, PXMP2, AMER1, ARHGAP32, BCR, C1orf198, CC2D1A, CCDC85C, CDC27, CENPB, CEP85, CNOT1, CNOT10, CSTF2T, DNAJA2, EDRF1, FAM193A, FARSA, FLJ44635, GGA3, HGS, HIST1H2BD, HIST1H3F, HSPA1B, IARS2, IFT172, IFT74, IQGAP2, JADE3, KIF7, KPNA3, LZTS2, MAGED1, NAE1, NAV1, NUDT19, OCRL, PAPD7, PDLIM7, PEBP1, PIK3C2B, PJA2, PPP1R13B, PPP2R3B, PPP2R5D, RC3H1, RIPK2, SCYL2, SEC16A, SIRT2, SMG7, SNRPE, SYNJ1, TNIP1, TNRC6A, TNRC6B, TP53BP2, TRIM26, TRIP6, TTK, UBB, VWA8, ZCCHC14, ZCCHC2, ZFP36L2, ABLIM1, KIAA1244, ASNS, CEP152, DIAPH3, DNAAF2, DRG1, DVL3, EXOC4, KIAA1671, LPP, NELFCD, NRBF2, PAK4, PDLIM3, PDLIM5, RPAP2, SDCCAG3, SIPA1L3, SLAIN2, SYNJ2, TAB2, TANC1, TTC28, TTF2, UCHL1, WRAP73, YEATS2, SYNE3, VASP, JUN, UBQLN2, CCDC50, IFIH1, VDAC1, MOAP1, CHRNB4, ZCCHC10, PRR27, IL7R, IL17F, BAGE2, HFE, CST8, POGLUT1, EDDM3B, LY6G5C, ST14, TNFSF18, GREM2, C1QTNF1, CST11, HLA-DPB1, FIBIN, ADAMTS12, GLIPR1L2, FAM46C, BTF3, ZRANB1, UXT, WBP4, IFITM1, KDR, NEDD8, KDM1A, AARS, ACLY, ACTB, ARF4, ATG9A, ATP2A2, BZW1, CACYBP, CAD, CALCOCO1, CCAR2, CCPG1, CCT2, CCT3, CCT4, CCT5, CCT6A, CEP112, CKB, CLTC, CTPS1, DDX3X, DNM1L, DYNC1H1, EEF2, EIF2S3, EIF3A, EIF4A1, ERLIN1, FASN, FASTKD2, FTL, GART, GPC1, HEXB, HIST1H2BN, HMGB1, HSP90AA1, HSP90AB1, HSPA8, HSPH1, IPO5, IPO7, KLHL8, KPNA2, KPNA4, KPNB1, LPL, LRRC59, MAT2A, MFF, MTHFD1, MTMR4, NCOA4, NPR3, NUP155, PABPC1, PAICS, PAIP1, PDCD6, PFKM, PFKP, PGD, PHGDH, PRKACA, PRKAR1A, PSMC1, PSMC3, PSMC4, PSMC5, PSMC6, PSMD2, RAB18, RAB1A, RAB21, RAB2A, RAB5C, RAB7A, RAB8A, RHEB, RPS17, RRM1, RTN4, S100A6, SAR1B, SDC2, SDC4, SDCBP, SEPT7, SMC4, SPG20, ST13P5, STIP1, SYNGR2, TAGLN2, TBC1D15, TCP1, TFRC, TM9SF2, TMEM59, TNPO1, TPP1, TRAF2, TRAF3, TRIP13, TUBB4B, VAPA, VAPB, YBX1, YWHAB, YWHAE, TRIO, HECTD1, WNK1, SPATA5L1, CTNNB1, LUZP1, MTCL1, STAM, TMEM160, POLR2B, TNKS1BP1, PPP6R3, KIF11, RTN3, ADAR, RACGAP1, BUB3, CORO1B, PABPC4, MAP7, DCXR, TSR1, DNMT1, ZC3HAV1, RPS27A, RAB6A, ADRM1, DHX9, UBA1, GSTP1, ACTG1, CISD2, DNAJA4, SETX, KIAA0101, TYSND1, STARD7, RNF114, ALKBH5, LGALS1, ARPC1A, TPM2, MRPS11, NT5C2, ACOT1, MRPS21, ARHGEF1, UBAP2L, SLC38A2, RPP38, MAP7D3, BAG1, MMS19, EARS2, SPATS2L, LGALS3BP, OXSR1, ARHGEF40, IGF2R, TUBG1, NUP188, TNPO3, PTRF, TDRD3, MORF4L2, NIF3L1, NIPBL, FTH1, CHEK2, FBXO3, RPL37A, METAP2, MRPS23, RPS19, SART1, APRT, WBSCR22, HMGB2, RPL12, PSIP1, RPS7, STRBP, ZC3H15, MAGT1, DHX37, RFC1, SRP72, PRPF31, SEMA3C, HNRNPA0, SCAMP3, SRPK1, UPF3B, ZFR, SYNCRIP, ILF2, SLK, AP3D1, ARPC4-TTLL3, RPS26, SSBP1, HNRNPAB, TMEM192, SCAP, CNR2, KLF15, SAMM50, IMMT, MTX1, MAP1LC3B2, VPS29, TOMM40, PSMB4, TRIM44,
SS18L1SF3B4, RFX6, CREBBP, EP300, USP30, SMARCA4, ATF3, ELF5, HDAC2, SMAD1, SMAD3, STAT3, TCF7, HDAC4, NR1H3, BRD1, AATF, RLIM, TAF9B, GATAD1, PCGF6, MED30, ANKRD22, WHSC1L1, SKA3, CUL3, DGCR6, CSTF2, LGALS3, CTAGE5, SNRPB, SNRPC, FAM168A, SS18L1, MAPK1IP1L, BMI1, DPF3, DPF2, SMARCE1, SMARCD1, SMARCC1, SMARCC2, HGS, ESR2, TP53BP1, ATN1, GLTSCR1L, ZMIZ2, PAX8, CEP55, C1orf94, NAF1, BAG4, SSBP3, ZMYND19, USP54, TNK1, BRD3, SMARCA2, HNRNPH1, NR3C1, BCL7C, SMARCD3, SS18, SMARCB1, ARID1A, ARID1B, SMARCD2, BCL7A, DPF1, BRD7, ARID2, ACTL6A, PBRM1, PHF10, GLTSCR1, ACTC1, BCL7B, BRD9, STK11IP, T, ERG, ETS1, FEV, FOS, HNF4A, LHX3, MYOD1, PAX6, PAX7, SP7,


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
SS18L1all structure
SQSTM1all structure


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
TgeneSQSTM1chr20:60718945chr5:179263436ENST0000036071857122_224304.3333333333333357.0GABRR3
TgeneSQSTM1chr20:60718945chr5:179263436ENST0000037692979122_224304.3333333333333357.0GABRR3
TgeneSQSTM1chr20:60718945chr5:179263436ENST0000038980568122_224388.3333333333333441.0GABRR3
TgeneSQSTM1chr20:60718945chr5:179263436ENST0000040287468122_224304.3333333333333357.0GABRR3
TgeneSQSTM1chr20:60718945chr5:179263436ENST0000038980568347_352388.3333333333333441.0KEAP1
TgeneSQSTM1chr20:60718945chr5:179263436ENST00000360718572_50304.3333333333333357.0LCK
TgeneSQSTM1chr20:60718945chr5:179263436ENST00000376929792_50304.3333333333333357.0LCK
TgeneSQSTM1chr20:60718945chr5:179263436ENST00000389805682_50388.3333333333333441.0LCK
TgeneSQSTM1chr20:60718945chr5:179263436ENST00000402874682_50304.3333333333333357.0LCK
TgeneSQSTM1chr20:60718945chr5:179263436ENST0000036071857269_440304.3333333333333357.0NTRK1
TgeneSQSTM1chr20:60718945chr5:179263436ENST0000037692979269_440304.3333333333333357.0NTRK1
TgeneSQSTM1chr20:60718945chr5:179263436ENST0000038980568269_440388.3333333333333441.0NTRK1
TgeneSQSTM1chr20:60718945chr5:179263436ENST0000040287468269_440304.3333333333333357.0NTRK1
TgeneSQSTM1chr20:60718945chr5:179263436ENST000003607185750_80304.3333333333333357.0PAWR
TgeneSQSTM1chr20:60718945chr5:179263436ENST000003769297950_80304.3333333333333357.0PAWR
TgeneSQSTM1chr20:60718945chr5:179263436ENST000003898056850_80388.3333333333333441.0PAWR
TgeneSQSTM1chr20:60718945chr5:179263436ENST000004028746850_80304.3333333333333357.0PAWR
TgeneSQSTM1chr20:60718945chr5:179263436ENST000003607185743_107304.3333333333333357.0PRKCZ and dimerization
TgeneSQSTM1chr20:60718945chr5:179263436ENST000003769297943_107304.3333333333333357.0PRKCZ and dimerization
TgeneSQSTM1chr20:60718945chr5:179263436ENST000003898056843_107388.3333333333333441.0PRKCZ and dimerization
TgeneSQSTM1chr20:60718945chr5:179263436ENST000004028746843_107304.3333333333333357.0PRKCZ and dimerization


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Related Drugs to SS18L1-SQSTM1


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to SS18L1-SQSTM1


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSS18L1C1862939AMYOTROPHIC LATERAL SCLEROSIS 11GENOMICS_ENGLAND
TgeneSQSTM1C4085252PAGET DISEASE OF BONE 39GENOMICS_ENGLAND;UNIPROT
TgeneSQSTM1C0002736Amyotrophic Lateral Sclerosis5CTD_human;ORPHANET
TgeneSQSTM1C4225326FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 34CTD_human;UNIPROT
TgeneSQSTM1C0029463Osteosarcoma2GENOMICS_ENGLAND
TgeneSQSTM1C0221054Welander Distal Myopathy1ORPHANET
TgeneSQSTM1C0242383Age related macular degeneration1CTD_human
TgeneSQSTM1C0393554Amyotrophic Lateral Sclerosis With Dementia1CTD_human
TgeneSQSTM1C0543859Amyotrophic Lateral Sclerosis, Guam Form1CTD_human
TgeneSQSTM1C1853926NONAKA MYOPATHY1CTD_human;GENOMICS_ENGLAND
TgeneSQSTM1C2931290Welander distal myopathy, Swedish type1ORPHANET
TgeneSQSTM1C3888102Frontotemporal Dementia With Motor Neuron Disease1ORPHANET
TgeneSQSTM1C4011788Behavioral variant of frontotemporal dementia1ORPHANET