Fusion partner gene information | Fusion gene name: SS18L1-SQSTM1 |
FusionPDB ID: 86673 | FusionGDB2.0 ID: 86673 | | Hgene | Tgene | Gene symbol | SS18L1 | SQSTM1 | Gene ID | 26039 | 8878 | Gene name | SS18L1 subunit of BAF chromatin remodeling complex | sequestosome 1 |
Synonyms | CREST|LP2261 | A170|DMRV|FTDALS3|NADGP|OSIL|PDB3|ZIP3|p60|p62|p62B |
Cytomap | 20q13.33 | 5q35.3 |
Type of gene | protein-coding | protein-coding |
Description | calcium-responsive transactivatorSS18-like protein 1SS18L1, nBAF chromatin remodeling complex subunitSYT homolog 1synovial sarcoma translocation gene on chromosome 18-like 1 | sequestosome-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 date | 20200313 | 20200327 |
UniProtAcc | O75177 Main function of 5'-partner protein: 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}. | Q13501 Main function of 5'-partner protein: 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}. |
Ensembl transtripts involved in fusion gene | ENST ids | ENST00000331758, ENST00000421564, ENST00000370848, ENST00000491916,
| ENST00000360718, ENST00000389805, ENST00000402874, ENST00000506690, ENST00000510187, ENST00000376929,
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Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 11 X 8 X 7=616 | 33 X 21 X 17=11781 |
# samples | 12 | 38 |
** MAII score | log2(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 |
Fusion gene context | PubMed: SS18L1 [Title/Abstract] AND SQSTM1 [Title/Abstract] AND fusion [Title/Abstract] |
Fusion neoantigen context | PubMed: SS18L1 [Title/Abstract] AND SQSTM1 [Title/Abstract] AND neoantigen [Title/Abstract] |
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | SS18L1(60718945)-SQSTM1(179263436), # samples:1
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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.
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Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | SS18L1 | C1862939 | AMYOTROPHIC LATERAL SCLEROSIS 1 | 1 | GENOMICS_ENGLAND |
Tgene | SQSTM1 | C4085252 | PAGET DISEASE OF BONE 3 | 9 | GENOMICS_ENGLAND;UNIPROT |
Tgene | SQSTM1 | C0002736 | Amyotrophic Lateral Sclerosis | 5 | CTD_human;ORPHANET |
Tgene | SQSTM1 | C4225326 | FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 | 4 | CTD_human;UNIPROT |
Tgene | SQSTM1 | C0029463 | Osteosarcoma | 2 | GENOMICS_ENGLAND |
Tgene | SQSTM1 | C0221054 | Welander Distal Myopathy | 1 | ORPHANET |
Tgene | SQSTM1 | C0242383 | Age related macular degeneration | 1 | CTD_human |
Tgene | SQSTM1 | C0393554 | Amyotrophic Lateral Sclerosis With Dementia | 1 | CTD_human |
Tgene | SQSTM1 | C0543859 | Amyotrophic Lateral Sclerosis, Guam Form | 1 | CTD_human |
Tgene | SQSTM1 | C1853926 | NONAKA MYOPATHY | 1 | CTD_human;GENOMICS_ENGLAND |
Tgene | SQSTM1 | C2931290 | Welander distal myopathy, Swedish type | 1 | ORPHANET |
Tgene | SQSTM1 | C3888102 | Frontotemporal Dementia With Motor Neuron Disease | 1 | ORPHANET |
Tgene | SQSTM1 | C4011788 | Behavioral variant of frontotemporal dementia | 1 | ORPHANET |