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Fusion Protein:C11orf49-F2 |
Fusion Protein Summary |
 Fusion gene summary |
| Fusion partner gene information | Fusion gene name: C11orf49-F2 | FusionPDB ID: 10714 | FusionGDB2.0 ID: 10714 | Hgene | Tgene | Gene symbol | C11orf49 | F2 | Gene ID | 79096 | 2147 |
| Gene name | chromosome 11 open reading frame 49 | coagulation factor II, thrombin | |
| Synonyms | - | PT|RPRGL2|THPH1 | |
| Cytomap | 11p11.2 | 11p11.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | UPF0705 protein C11orf49 | prothrombinprepro-coagulation factor IIprothrombin B-chainserine proteasethrombin factor II | |
| Modification date | 20200313 | 20200329 | |
| UniProtAcc | Q9H6J7 | P55085 | |
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000536126, ENST00000278460, ENST00000378615, ENST00000378618, ENST00000395460, ENST00000543718, ENST00000527268, | ENST00000311907, ENST00000530231, |
| Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 26 X 14 X 9=3276 | 3 X 4 X 3=36 |
| # samples | 27 | 4 | |
| ** MAII score | log2(27/3276*10)=-3.60090404459018 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/36*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context (manual curation of fusion genes in FusionPDB) | PubMed: C11orf49 [Title/Abstract] AND F2 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | C11orf49(47008861)-F2(46747409), # samples:3 | ||
| Anticipated loss of major functional domain due to fusion event. | C11orf49-F2 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. C11orf49-F2 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. C11orf49-F2 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. C11orf49-F2 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. C11orf49-F2 seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF. C11orf49-F2 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF. C11orf49-F2 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 |
| Tgene | F2 | GO:0001934 | positive regulation of protein phosphorylation | 7559487 |
| Tgene | F2 | GO:0007166 | cell surface receptor signaling pathway | 1672265 |
| Tgene | F2 | GO:0009611 | response to wounding | 9639571 |
| Tgene | F2 | GO:0030168 | platelet activation | 9038223 |
| Tgene | F2 | GO:0030194 | positive regulation of blood coagulation | 9038223 |
| Tgene | F2 | GO:0032967 | positive regulation of collagen biosynthetic process | 9639571 |
| Tgene | F2 | GO:0042730 | fibrinolysis | 12855810 |
| Tgene | F2 | GO:0045861 | negative regulation of proteolysis | 1695900 |
| Tgene | F2 | GO:0048712 | negative regulation of astrocyte differentiation | 1691280 |
| Tgene | F2 | GO:0051281 | positive regulation of release of sequestered calcium ion into cytosol | 1672265|19052258 |
| Tgene | F2 | GO:0051480 | regulation of cytosolic calcium ion concentration | 19052258 |
| Tgene | F2 | GO:0051838 | cytolysis by host of symbiont cells | 20421939 |
| Tgene | F2 | GO:0061844 | antimicrobial humoral immune response mediated by antimicrobial peptide | 20421939 |
| Tgene | F2 | GO:0070945 | neutrophil mediated killing of gram-negative bacterium | 20421939 |
| Tgene | F2 | GO:0090218 | positive regulation of lipid kinase activity | 11309392 |
| Tgene | F2 | GO:1900016 | negative regulation of cytokine production involved in inflammatory response | 20421939 |
| Tgene | F2 | GO:1900182 | positive regulation of protein localization to nucleus | 11309392 |
| Tgene | F2 | GO:1900738 | positive regulation of phospholipase C-activating G protein-coupled receptor signaling pathway | 20164183 |
| Tgene | F2 | GO:2000379 | positive regulation of reactive oxygen species metabolic process | 17275676 |
| Fusion gene breakpoints across C11orf49 (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 F2 (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 | LUAD | TCGA-69-7979-01A | C11orf49 | chr11 | 47008861 | - | F2 | chr11 | 46747409 | + |
| ChimerDB4 | LUAD | TCGA-69-7979-01A | C11orf49 | chr11 | 47008861 | + | F2 | chr11 | 46747409 | + |
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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) |
| ENST00000543718 | C11orf49 | chr11 | 47008861 | + | ENST00000311907 | F2 | chr11 | 46747409 | + | 1583 | 175 | 147 | 1484 | 445 |
| ENST00000543718 | C11orf49 | chr11 | 47008861 | + | ENST00000530231 | F2 | chr11 | 46747409 | + | 1460 | 175 | 147 | 1367 | 406 |
| 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 |
| ENST00000543718 | ENST00000311907 | C11orf49 | chr11 | 47008861 | + | F2 | chr11 | 46747409 | + | 0.003647858 | 0.9963522 |
| ENST00000543718 | ENST00000530231 | C11orf49 | chr11 | 47008861 | + | F2 | chr11 | 46747409 | + | 0.002700577 | 0.9972995 |
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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 >10714_10714_1_C11orf49-F2_C11orf49_chr11_47008861_ENST00000543718_F2_chr11_46747409_ENST00000311907_length(amino acids)=445AA_BP=10 MELPGSSLNSQDQVTVAMTPRSEGSSVNLSPPLEQCVPDRGQQYQGRLAVTTHGLPCLAWASAQAKALSKHQDFNSAVQLVENFCRNPDG DEEGVWCYVAGKPGDFGYCDLNYCEEAVEEETGDGLDEDSDRAIEGRTATSEYQTFFNPRTFGSGEADCGLRPLFEKKSLEDKTERELLE SYIDGRIVEGSDAEIGMSPWQVMLFRKSPQELLCGASLISDRWVLTAAHCLLYPPWDKNFTENDLLVRIGKHSRTRYERNIEKISMLEKI YIHPRYNWRENLDRDIALMKLKKPVAFSDYIHPVCLPDRETAASLLQAGYKGRVTGWGNLKETWTANVGKGQPSVLQVVNLPIVERPVCK -------------------------------------------------------------- >10714_10714_2_C11orf49-F2_C11orf49_chr11_47008861_ENST00000543718_F2_chr11_46747409_ENST00000530231_length(amino acids)=406AA_BP=10 MELPGSSLNSQDQVTVAMTPRSEGSSVNLSPPLEQCVPDRGQQYQGRLAVTTHGLPCLAWASAQAKALSKHQDFNSAVQLVENFCRNPDG DEEGVWCYVAGKPGDFGYCDLNYCEEAVEEETGDGLDEDSDRAIEGRTATSEYQTFFNPRTFGSGEADCGLRPLFEKKSLEDKTERELLE SYIDGRIVEGSDAEIGMSPWQVMLFRKSPQELLCGASLISDRWVLTAAHCLLYPPWDKNFTENDLLVRIGKHSRTRYERNIEKISMLEKI YIHPSLLQAGYKGRVTGWGNLKETWTANVGKGQPSVLQVVNLPIVERPVCKDSTRIRITDNMFCAGYKPDEGKRGDACEGDSGGPFVMKS -------------------------------------------------------------- |
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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/chr11:47008861/chr11:46747409) - 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 |
| C11orf49 | F2 |
| 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 | F2 | chr11:47008861 | chr11:46747409 | ENST00000311907 | 5 | 14 | 364_618 | 186.33333333333334 | 623.0 | Domain | Peptidase S1 | |
| Tgene | F2 | chr11:47008861 | chr11:46747409 | ENST00000311907 | 5 | 14 | 551_573 | 186.33333333333334 | 623.0 | Region | Note=High affinity receptor-binding region which is also known as the TP508 peptide |
| - 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 |
| Tgene | F2 | chr11:47008861 | chr11:46747409 | ENST00000311907 | 5 | 14 | 44_89 | 186.33333333333334 | 623.0 | Domain | Gla |
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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 |
| C11orf49 | |
| F2 |
| - 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 C11orf49-F2 |
| 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 C11orf49-F2 |
| 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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