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Fusion Protein:SKIV2L2-F2R |
Fusion Protein Summary |
 Fusion gene summary |
| Fusion partner gene information | Fusion gene name: SKIV2L2-F2R | FusionPDB ID: 82108 | FusionGDB2.0 ID: 82108 | Hgene | Tgene | Gene symbol | SKIV2L2 | F2R | Gene ID | 23517 | 2149 |
| Gene name | Mtr4 exosome RNA helicase | coagulation factor II thrombin receptor | |
| Synonyms | Dob1|KIAA0052|Mtr4|SKIV2L2|fSAP118 | CF2R|HTR|PAR-1|PAR1|TR | |
| Cytomap | 5q11.2 | 5q13.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | exosome RNA helicase MTR4ATP-dependent RNA helicase DOB1ATP-dependent RNA helicase SKIV2L2ATP-dependent helicase SKIV2L2Ski2 like RNA helicase 2TRAMP-like complex helicasefunctional spliceosome-associated protein 118superkiller viralicidic activity | proteinase-activated receptor 1protease-activated receptor 1 | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | . | P55085 | |
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000504388, ENST00000230640, ENST00000545714, | ENST00000319211, ENST00000505600, |
| Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 34 X 12 X 8=3264 | 3 X 3 X 2=18 |
| # samples | 15 | 3 | |
| ** MAII score | log2(15/3264*10)=-4.44360665147561 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context (manual curation of fusion genes in FusionPDB) | PubMed: SKIV2L2 [Title/Abstract] AND F2R [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | SKIV2L2(54603975)-F2R(76028139), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | SKIV2L2-F2R 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. SKIV2L2-F2R 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. SKIV2L2-F2R 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. SKIV2L2-F2R 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. SKIV2L2-F2R seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. SKIV2L2-F2R seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted 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 |
| Hgene | SKIV2L2 | GO:0006401 | RNA catabolic process | 29906447 |
| Tgene | F2R | GO:0002248 | connective tissue replacement involved in inflammatory response wound healing | 9639571 |
| Tgene | F2R | GO:0006919 | activation of cysteine-type endopeptidase activity involved in apoptotic process | 10692450 |
| Tgene | F2R | GO:0007200 | phospholipase C-activating G protein-coupled receptor signaling pathway | 20164183 |
| Tgene | F2R | GO:0008285 | negative regulation of cell proliferation | 10692450 |
| Tgene | F2R | GO:0009611 | response to wounding | 9639571 |
| Tgene | F2R | GO:0030168 | platelet activation | 9038223 |
| Tgene | F2R | GO:0030193 | regulation of blood coagulation | 17848177 |
| Tgene | F2R | GO:0030194 | positive regulation of blood coagulation | 9038223 |
| Tgene | F2R | GO:0032967 | positive regulation of collagen biosynthetic process | 9639571 |
| Tgene | F2R | GO:0043280 | positive regulation of cysteine-type endopeptidase activity involved in apoptotic process | 10692450 |
| Tgene | F2R | GO:0043410 | positive regulation of MAPK cascade | 17848177 |
| Tgene | F2R | GO:0045893 | positive regulation of transcription, DNA-templated | 17848177 |
| Tgene | F2R | GO:0051281 | positive regulation of release of sequestered calcium ion into cytosol | 1672265 |
| Tgene | F2R | GO:2000484 | positive regulation of interleukin-8 secretion | 17404307 |
| Tgene | F2R | GO:2000778 | positive regulation of interleukin-6 secretion | 11447194 |
| Fusion gene breakpoints across SKIV2L2 (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 F2R (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 | PRAD | TCGA-J4-A83I-01A | SKIV2L2 | chr5 | 54603975 | - | F2R | chr5 | 76028139 | + |
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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) |
| ENST00000230640 | SKIV2L2 | chr5 | 54603975 | - | ENST00000319211 | F2R | chr5 | 76028139 | + | 3856 | 388 | 273 | 1577 | 434 |
| 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 |
| ENST00000230640 | ENST00000319211 | SKIV2L2 | chr5 | 54603975 | - | F2R | chr5 | 76028139 | + | 0.00166897 | 0.998331 |
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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 >82108_82108_1_SKIV2L2-F2R_SKIV2L2_chr5_54603975_ENST00000230640_F2R_chr5_76028139_ENST00000319211_length(amino acids)=434AA_BP=38 MSCSACSRATRPLRREPKKTRKRTRGNGRGLQGLQTRQESKATNATLDPRSFLLRNPNDKYEPFWEDEEKNESGLTEYRLVSINKSSPLQ KQLPAFISEDASGYLTSSWLTLFVPSVYTGVFVVSLPLNIMAIVVFILKMKVKKPAVVYMLHLATADVLFVSVLPFKISYYFSGSDWQFG SELCRFVTAAFYCNMYASILLMTVISIDRFLAVVYPMQSLSWRTLGRASFTCLAIWALAIAGVVPLLLKEQTIQVPGLNITTCHDVLNET LLEGYYAYYFSAFSAVFFFVPLIISTVCYVSIIRCLSSSAVANRSKKSRALFLSAAVFCIFIICFGPTNVLLIAHYSFLSHTSTTEAAYF -------------------------------------------------------------- |
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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/chr5:54603975/chr5:76028139) - 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 |
| . | F2R |
| FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes. | FUNCTION: Receptor for trypsin and trypsin-like enzymes coupled to G proteins (PubMed:28445455). Its function is mediated through the activation of several signaling pathways including phospholipase C (PLC), intracellular calcium, mitogen-activated protein kinase (MAPK), I-kappaB kinase/NF-kappaB and Rho (PubMed:28445455). Can also be transactivated by cleaved F2R/PAR1. Involved in modulation of inflammatory responses and regulation of innate and adaptive immunity, and acts as a sensor for proteolytic enzymes generated during infection. Generally is promoting inflammation. Can signal synergistically with TLR4 and probably TLR2 in inflammatory responses and modulates TLR3 signaling. Has a protective role in establishing the endothelial barrier; the activity involves coagulation factor X. Regulates endothelial cell barrier integrity during neutrophil extravasation, probably following proteolytic cleavage by PRTN3 (PubMed:23202369). Proposed to have a bronchoprotective role in airway epithelium, but also shown to compromise the airway epithelial barrier by interrupting E-cadherin adhesion (PubMed:10086357). Involved in the regulation of vascular tone; activation results in hypotension presumably mediated by vasodilation. Associates with a subset of G proteins alpha subunits such as GNAQ, GNA11, GNA14, GNA12 and GNA13, but probably not with G(o) alpha, G(i) subunit alpha-1 and G(i) subunit alpha-2. However, according to PubMed:21627585 can signal through G(i) subunit alpha. Believed to be a class B receptor which internalizes as a complex with arrestin and traffic with it to endosomal vesicles, presumably as desensitized receptor, for extended periods of time. Mediates inhibition of TNF-alpha stimulated JNK phosphorylation via coupling to GNAQ and GNA11; the function involves dissociation of RIPK1 and TRADD from TNFR1. Mediates phosphorylation of nuclear factor NF-kappa-B RELA subunit at 'Ser-536'; the function involves IKBKB and is predominantly independent of G proteins. Involved in cellular migration. Involved in cytoskeletal rearrangement and chemotaxis through beta-arrestin-promoted scaffolds; the function is independent of GNAQ and GNA11 and involves promotion of cofilin dephosphorylation and actin filament severing. Induces redistribution of COPS5 from the plasma membrane to the cytosol and activation of the JNK cascade is mediated by COPS5. Involved in the recruitment of leukocytes to the sites of inflammation and is the major PAR receptor capable of modulating eosinophil function such as proinflammatory cytokine secretion, superoxide production and degranulation. During inflammation promotes dendritic cell maturation, trafficking to the lymph nodes and subsequent T-cell activation. Involved in antimicrobial response of innate immune cells; activation enhances phagocytosis of Gram-positive and killing of Gram-negative bacteria. Acts synergistically with interferon-gamma in enhancing antiviral responses. Implicated in a number of acute and chronic inflammatory diseases such as of the joints, lungs, brain, gastrointestinal tract, periodontium, skin, and vascular systems, and in autoimmune disorders. {ECO:0000269|PubMed:10086357, ECO:0000269|PubMed:10725339, ECO:0000269|PubMed:11413129, ECO:0000269|PubMed:11441110, ECO:0000269|PubMed:11447194, ECO:0000269|PubMed:11714832, ECO:0000269|PubMed:12832443, ECO:0000269|PubMed:15155775, ECO:0000269|PubMed:16359518, ECO:0000269|PubMed:16410250, ECO:0000269|PubMed:16478888, ECO:0000269|PubMed:16714334, ECO:0000269|PubMed:17404307, ECO:0000269|PubMed:17500066, ECO:0000269|PubMed:18424071, ECO:0000269|PubMed:18453611, ECO:0000269|PubMed:18474671, ECO:0000269|PubMed:18622013, ECO:0000269|PubMed:19494303, ECO:0000269|PubMed:19781631, ECO:0000269|PubMed:19864598, ECO:0000269|PubMed:19865078, ECO:0000269|PubMed:20826780, ECO:0000269|PubMed:21501162, ECO:0000269|PubMed:23202369, ECO:0000269|PubMed:28445455}. |
| 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 | F2R | chr5:54603975 | chr5:76028139 | ENST00000319211 | 0 | 2 | 57_60 | 29.333333333333332 | 426.0 | Compositional bias | Note=Asp/Glu-rich (acidic) | |
| Tgene | F2R | chr5:54603975 | chr5:76028139 | ENST00000319211 | 0 | 2 | 129_137 | 29.333333333333332 | 426.0 | Topological domain | Cytoplasmic | |
| Tgene | F2R | chr5:54603975 | chr5:76028139 | ENST00000319211 | 0 | 2 | 158_176 | 29.333333333333332 | 426.0 | Topological domain | Extracellular | |
| Tgene | F2R | chr5:54603975 | chr5:76028139 | ENST00000319211 | 0 | 2 | 199_218 | 29.333333333333332 | 426.0 | Topological domain | Cytoplasmic | |
| Tgene | F2R | chr5:54603975 | chr5:76028139 | ENST00000319211 | 0 | 2 | 240_268 | 29.333333333333332 | 426.0 | Topological domain | Extracellular | |
| Tgene | F2R | chr5:54603975 | chr5:76028139 | ENST00000319211 | 0 | 2 | 289_311 | 29.333333333333332 | 426.0 | Topological domain | Cytoplasmic | |
| Tgene | F2R | chr5:54603975 | chr5:76028139 | ENST00000319211 | 0 | 2 | 335_350 | 29.333333333333332 | 426.0 | Topological domain | Extracellular | |
| Tgene | F2R | chr5:54603975 | chr5:76028139 | ENST00000319211 | 0 | 2 | 375_425 | 29.333333333333332 | 426.0 | Topological domain | Cytoplasmic | |
| Tgene | F2R | chr5:54603975 | chr5:76028139 | ENST00000319211 | 0 | 2 | 42_102 | 29.333333333333332 | 426.0 | Topological domain | Extracellular | |
| Tgene | F2R | chr5:54603975 | chr5:76028139 | ENST00000319211 | 0 | 2 | 103_128 | 29.333333333333332 | 426.0 | Transmembrane | Helical%3B Name%3D1 | |
| Tgene | F2R | chr5:54603975 | chr5:76028139 | ENST00000319211 | 0 | 2 | 138_157 | 29.333333333333332 | 426.0 | Transmembrane | Helical%3B Name%3D2 | |
| Tgene | F2R | chr5:54603975 | chr5:76028139 | ENST00000319211 | 0 | 2 | 177_198 | 29.333333333333332 | 426.0 | Transmembrane | Helical%3B Name%3D3 | |
| Tgene | F2R | chr5:54603975 | chr5:76028139 | ENST00000319211 | 0 | 2 | 219_239 | 29.333333333333332 | 426.0 | Transmembrane | Helical%3B Name%3D4 | |
| Tgene | F2R | chr5:54603975 | chr5:76028139 | ENST00000319211 | 0 | 2 | 269_288 | 29.333333333333332 | 426.0 | Transmembrane | Helical%3B Name%3D5 | |
| Tgene | F2R | chr5:54603975 | chr5:76028139 | ENST00000319211 | 0 | 2 | 312_334 | 29.333333333333332 | 426.0 | Transmembrane | Helical%3B Name%3D6 | |
| Tgene | F2R | chr5:54603975 | chr5:76028139 | ENST00000319211 | 0 | 2 | 351_374 | 29.333333333333332 | 426.0 | Transmembrane | Helical%3B Name%3D7 |
| - 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 | SKIV2L2 | chr5:54603975 | chr5:76028139 | ENST00000230640 | - | 1 | 27 | 148_304 | 44.666666666666664 | 1043.0 | Domain | Helicase ATP-binding |
| Hgene | SKIV2L2 | chr5:54603975 | chr5:76028139 | ENST00000230640 | - | 1 | 27 | 405_577 | 44.666666666666664 | 1043.0 | Domain | Helicase C-terminal |
| Hgene | SKIV2L2 | chr5:54603975 | chr5:76028139 | ENST00000230640 | - | 1 | 27 | 252_255 | 44.666666666666664 | 1043.0 | Motif | Note=DEIH box |
| Hgene | SKIV2L2 | chr5:54603975 | chr5:76028139 | ENST00000230640 | - | 1 | 27 | 161_168 | 44.666666666666664 | 1043.0 | Nucleotide binding | ATP |
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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 |
| Protein-protein interactors based on sequence similarity (STRING) |
| Gene | STRING network |
| SKIV2L2 | |
| F2R |
| - 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 SKIV2L2-F2R |
| 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 SKIV2L2-F2R |
| 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 |
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