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Fusion Protein:SS18L1-ADRM1 |
Fusion Protein Summary |
 Fusion gene summary |
| Fusion partner gene information | Fusion gene name: SS18L1-ADRM1 | FusionPDB ID: 86663 | FusionGDB2.0 ID: 86663 | Hgene | Tgene | Gene symbol | SS18L1 | ADRM1 | Gene ID | 26039 | 11047 |
| Gene name | SS18L1 subunit of BAF chromatin remodeling complex | adhesion regulating molecule 1 | |
| Synonyms | CREST|LP2261 | ARM-1|ARM1|GP110 | |
| Cytomap | 20q13.33 | 20q13.33 | |
| 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 | proteasomal ubiquitin receptor ADRM1110 kDa cell membrane glycoproteinM(r) 110,000 surface antigenproteasome regulatory particle non-ATPase 13proteasome ubiquitin receptorrpn13 homolog | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | O75177 | Q16186 | |
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000331758, ENST00000421564, ENST00000370848, ENST00000491916, | ENST00000462554, ENST00000253003, |
| Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 11 X 8 X 7=616 | 8 X 6 X 5=240 |
| # samples | 12 | 8 | |
| ** MAII score | log2(12/616*10)=-2.35989594508638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(8/240*10)=-1.58496250072116 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 ADRM1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | SS18L1(60718945)-ADRM1(60881253), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | SS18L1-ADRM1 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-ADRM1 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-ADRM1 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-ADRM1 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) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Tgene | ADRM1 | GO:0043248 | proteasome assembly | 16990800 |
| Fusion 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. |
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| Fusion gene breakpoints across ADRM1 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Fusion Gene Sample Information |
| Fusion gene information from FusionGDB2.0. |
| 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. |
| Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChimerDB4 | Non-Cancer | ERR315395 | SS18L1 | chr20 | 60718945 | + | ADRM1 | chr20 | 60881253 | + |
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Fusion ORF Analysis |
| Fusion information from ORFfinder translation from full-length transcript sequence from FusionPDB. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
| ENST00000421564 | SS18L1 | chr20 | 60718945 | + | ENST00000253003 | ADRM1 | chr20 | 60881253 | + | 1119 | 124 | 55 | 1017 | 320 |
| ENST00000331758 | SS18L1 | chr20 | 60718945 | + | ENST00000253003 | ADRM1 | chr20 | 60881253 | + | 1090 | 95 | 26 | 988 | 320 |
| DeepORF 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. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
| ENST00000421564 | ENST00000253003 | SS18L1 | chr20 | 60718945 | + | ADRM1 | chr20 | 60881253 | + | 0.007303255 | 0.9926967 |
| ENST00000331758 | ENST00000253003 | SS18L1 | chr20 | 60718945 | + | ADRM1 | chr20 | 60881253 | + | 0.008436763 | 0.9915632 |
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Fusion Amino Acid Sequences |
| 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 >86663_86663_1_SS18L1-ADRM1_SS18L1_chr20_60718945_ENST00000331758_ADRM1_chr20_60881253_ENST00000253003_length(amino acids)=320AA_BP=0 MSVAFASARPRGKGEVTQQTIQKEPKTDQDEEHCRKVNEYLNNPPMPGALGASGSSGHELSALGGEGGLQSLLGNMSHSQLMQLIGPAGL GGLGGLGALTGPGLASLLGSSGPPGSSSSSSSRSQSAAVTPSSTTSSTRATPAPSAPAAASATSPSPAPSSGNGASTAASPTQPIQLSDL QSILATMNVPAGPAGGQQVDLASVLTPEIMAPILANADVQERLLPYLPSGESLPQTADEIQNTLTSPQFQQALGMFSAALASGQLGPLMC -------------------------------------------------------------- >86663_86663_2_SS18L1-ADRM1_SS18L1_chr20_60718945_ENST00000421564_ADRM1_chr20_60881253_ENST00000253003_length(amino acids)=320AA_BP=0 MSVAFASARPRGKGEVTQQTIQKEPKTDQDEEHCRKVNEYLNNPPMPGALGASGSSGHELSALGGEGGLQSLLGNMSHSQLMQLIGPAGL GGLGGLGALTGPGLASLLGSSGPPGSSSSSSSRSQSAAVTPSSTTSSTRATPAPSAPAAASATSPSPAPSSGNGASTAASPTQPIQLSDL QSILATMNVPAGPAGGQQVDLASVLTPEIMAPILANADVQERLLPYLPSGESLPQTADEIQNTLTSPQFQQALGMFSAALASGQLGPLMC -------------------------------------------------------------- |
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Fusion Protein Functional Features |
| 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/chr20:60881253) - 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. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SS18L1 | ADRM1 |
| 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: Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. Within the complex, functions as a proteasomal ubiquitin receptor. Engages and activates 19S-associated deubiquitinases UCHL5 and PSMD14 during protein degradation. UCHL5 reversibly associate with the 19S regulatory particle whereas PSMD14 is an intrinsic subunit of the proteasome lid subcomplex. {ECO:0000269|PubMed:16815440, ECO:0000269|PubMed:16906146, ECO:0000269|PubMed:16990800, ECO:0000269|PubMed:17139257, ECO:0000269|PubMed:18497817, ECO:0000269|PubMed:24752541, ECO:0000269|PubMed:25702870, ECO:0000269|PubMed:25702872}. |
| Retention 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 * Minus value of BPloci means that the break pointn is located before the CDS. |
| - Retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| Tgene | ADRM1 | chr20:60718945 | chr20:60881253 | ENST00000253003 | 2 | 10 | 135_202 | 110.0 | 408.0 | Compositional bias | Note=Gly-rich | |
| Tgene | ADRM1 | chr20:60718945 | chr20:60881253 | ENST00000253003 | 2 | 10 | 193_257 | 110.0 | 408.0 | Compositional bias | Note=Ser-rich | |
| Tgene | ADRM1 | chr20:60718945 | chr20:60881253 | ENST00000253003 | 2 | 10 | 203_213 | 110.0 | 408.0 | Compositional bias | Note=Poly-Ser | |
| Tgene | ADRM1 | chr20:60718945 | chr20:60881253 | ENST00000253003 | 2 | 10 | 277_391 | 110.0 | 408.0 | Domain | DEUBAD |
| - Not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| Hgene | SS18L1 | chr20:60718945 | chr20:60881253 | ENST00000331758 | + | 1 | 11 | 190_396 | 23.0 | 397.0 | Compositional bias | Note=Gln-rich |
| Hgene | SS18L1 | chr20:60718945 | chr20:60881253 | ENST00000370848 | + | 1 | 11 | 190_396 | 0.0 | 1118.0 | Compositional bias | Note=Gln-rich |
| Hgene | SS18L1 | chr20:60718945 | chr20:60881253 | ENST00000421564 | + | 1 | 12 | 190_396 | 23.0 | 1125.3333333333333 | Compositional bias | Note=Gln-rich |
| Hgene | SS18L1 | chr20:60718945 | chr20:60881253 | ENST00000331758 | + | 1 | 11 | 353_356 | 23.0 | 397.0 | Motif | SH2-binding |
| Hgene | SS18L1 | chr20:60718945 | chr20:60881253 | ENST00000331758 | + | 1 | 11 | 371_379 | 23.0 | 397.0 | Motif | SH3-binding |
| Hgene | SS18L1 | chr20:60718945 | chr20:60881253 | ENST00000331758 | + | 1 | 11 | 391_394 | 23.0 | 397.0 | Motif | SH2-binding |
| Hgene | SS18L1 | chr20:60718945 | chr20:60881253 | ENST00000331758 | + | 1 | 11 | 50_53 | 23.0 | 397.0 | Motif | SH2-binding |
| Hgene | SS18L1 | chr20:60718945 | chr20:60881253 | ENST00000370848 | + | 1 | 11 | 353_356 | 0.0 | 1118.0 | Motif | SH2-binding |
| Hgene | SS18L1 | chr20:60718945 | chr20:60881253 | ENST00000370848 | + | 1 | 11 | 371_379 | 0.0 | 1118.0 | Motif | SH3-binding |
| Hgene | SS18L1 | chr20:60718945 | chr20:60881253 | ENST00000370848 | + | 1 | 11 | 391_394 | 0.0 | 1118.0 | Motif | SH2-binding |
| Hgene | SS18L1 | chr20:60718945 | chr20:60881253 | ENST00000370848 | + | 1 | 11 | 50_53 | 0.0 | 1118.0 | Motif | SH2-binding |
| Hgene | SS18L1 | chr20:60718945 | chr20:60881253 | ENST00000421564 | + | 1 | 12 | 353_356 | 23.0 | 1125.3333333333333 | Motif | SH2-binding |
| Hgene | SS18L1 | chr20:60718945 | chr20:60881253 | ENST00000421564 | + | 1 | 12 | 371_379 | 23.0 | 1125.3333333333333 | Motif | SH3-binding |
| Hgene | SS18L1 | chr20:60718945 | chr20:60881253 | ENST00000421564 | + | 1 | 12 | 391_394 | 23.0 | 1125.3333333333333 | Motif | SH2-binding |
| Hgene | SS18L1 | chr20:60718945 | chr20:60881253 | ENST00000421564 | + | 1 | 12 | 50_53 | 23.0 | 1125.3333333333333 | Motif | SH2-binding |
| Hgene | SS18L1 | chr20:60718945 | chr20:60881253 | ENST00000331758 | + | 1 | 11 | 149_232 | 23.0 | 397.0 | Region | Methionine-rich intra-molecular domain |
| Hgene | SS18L1 | chr20:60718945 | chr20:60881253 | ENST00000331758 | + | 1 | 11 | 246_317 | 23.0 | 397.0 | Region | MFD domain |
| Hgene | SS18L1 | chr20:60718945 | chr20:60881253 | ENST00000331758 | + | 1 | 11 | 334_396 | 23.0 | 397.0 | Region | Necessary for nuclear localization |
| Hgene | SS18L1 | chr20:60718945 | chr20:60881253 | ENST00000370848 | + | 1 | 11 | 149_232 | 0.0 | 1118.0 | Region | Methionine-rich intra-molecular domain |
| Hgene | SS18L1 | chr20:60718945 | chr20:60881253 | ENST00000370848 | + | 1 | 11 | 246_317 | 0.0 | 1118.0 | Region | MFD domain |
| Hgene | SS18L1 | chr20:60718945 | chr20:60881253 | ENST00000370848 | + | 1 | 11 | 334_396 | 0.0 | 1118.0 | Region | Necessary for nuclear localization |
| Hgene | SS18L1 | chr20:60718945 | chr20:60881253 | ENST00000421564 | + | 1 | 12 | 149_232 | 23.0 | 1125.3333333333333 | Region | Methionine-rich intra-molecular domain |
| Hgene | SS18L1 | chr20:60718945 | chr20:60881253 | ENST00000421564 | + | 1 | 12 | 246_317 | 23.0 | 1125.3333333333333 | Region | MFD domain |
| Hgene | SS18L1 | chr20:60718945 | chr20:60881253 | ENST00000421564 | + | 1 | 12 | 334_396 | 23.0 | 1125.3333333333333 | Region | Necessary for nuclear localization |
| Tgene | ADRM1 | chr20:60718945 | chr20:60881253 | ENST00000253003 | 2 | 10 | 18_131 | 110.0 | 408.0 | Domain | Pru |
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Fusion Protein-Protein Interaction |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in |
| Protein-protein interactors with each fusion partner protein in wild-type from validated records (BIOGRID-3.4.160) |
| Gene | PPI interactors |
| SS18L1 | SF3B4, 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, |
| Protein-protein interactors based on sequence similarity (STRING) |
| Gene | STRING network |
| SS18L1 |  |
| ADRM1 |
| - Retained interactions in fusion protein (protein functional feature from UniProt). |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost interactions due to fusion (protein functional feature from UniProt). |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs to SS18L1-ADRM1 |
| Drugs used for this fusion-positive patient. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Drug | Source | PMID |
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Related Diseases to SS18L1-ADRM1 |
| Diseases that have this fusion gene. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Disease | Source | PMID |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | SS18L1 | C1862939 | AMYOTROPHIC LATERAL SCLEROSIS 1 | 1 | GENOMICS_ENGLAND |
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