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Kinase Fusion Gene:BUB1B_THBS1 |
Kinase Fusion Protein Summary |
 Kinase Fusion gene summary |
| Kinase Fusion partner gene information | Kinase Fusion gene name: BUB1B_THBS1 | KinaseFusionDB ID: KFG775 | FusionGDB2.0 ID: KFG775 | Hgene | Tgene | Gene symbol | BUB1B | THBS1 | Gene ID | 701 | 7057 | |
| Gene name | BUB1 mitotic checkpoint serine/threonine kinase B | thrombospondin 1 | ||||||||||
| Synonyms | BUB1beta|BUBR1|Bub1A|MAD3L|MVA1|SSK1|hBUBR1 | THBS|THBS-1|TSP|TSP-1|TSP1 | ||||||||||
| Cytomap | 15q15.1 | 15q14 | ||||||||||
| Type of gene | protein-coding | protein-coding | ||||||||||
| Description | mitotic checkpoint serine/threonine-protein kinase BUB1 betaBUB1B, mitotic checkpoint serine/threonine kinaseMAD3/BUB1-related protein kinasebudding uninhibited by benzimidazoles 1 homolog betamitotic checkpoint kinase MAD3L | thrombospondin-1glycoprotein Gthrombospondin-1p180thrombospondin-p50 | ||||||||||
| Modification date | 20240305 | 20240416 | ||||||||||
| UniProtAcc | O60566 | P07996 | ||||||||||
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000560120, ENST00000287598, ENST00000412359, | ENST00000260356, | |||||||||
| Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: BUB1B [Title/Abstract] AND THBS1 [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | BUB1B(40462882)-THBS1(39879548), # samples:1 | |||||||||||
| 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 | BUB1B | GO:0007094 | mitotic spindle assembly checkpoint signaling | 10477750 |
| Tgene | THBS1 | GO:0001937 | negative regulation of endothelial cell proliferation | 16150726 |
| Tgene | THBS1 | GO:0001937 | negative regulation of endothelial cell proliferation | 17996481 |
| Tgene | THBS1 | GO:0001953 | negative regulation of cell-matrix adhesion | 16150726 |
| Tgene | THBS1 | GO:0001953 | negative regulation of cell-matrix adhesion | 17416590 |
| Tgene | THBS1 | GO:0002581 | negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II | 16882710 |
| Tgene | THBS1 | GO:0002605 | negative regulation of dendritic cell antigen processing and presentation | 16882710 |
| Tgene | THBS1 | GO:0006954 | inflammatory response | 23144964 |
| Tgene | THBS1 | GO:0008284 | positive regulation of cell population proliferation | 24615654 |
| Tgene | THBS1 | GO:0008285 | negative regulation of cell population proliferation | 17596205 |
| Tgene | THBS1 | GO:0009749 | response to glucose | 18096704 |
| Tgene | THBS1 | GO:0010595 | positive regulation of endothelial cell migration | 18555217 |
| Tgene | THBS1 | GO:0010596 | negative regulation of endothelial cell migration | 18555217 |
| Tgene | THBS1 | GO:0010748 | negative regulation of long-chain fatty acid import across plasma membrane | 17416590 |
| Tgene | THBS1 | GO:0010751 | negative regulation of nitric oxide mediated signal transduction | 16150726 |
| Tgene | THBS1 | GO:0010754 | negative regulation of cGMP-mediated signaling | 17416590 |
| Tgene | THBS1 | GO:0010757 | negative regulation of plasminogen activation | 6438154 |
| Tgene | THBS1 | GO:0010763 | positive regulation of fibroblast migration | 18555217 |
| Tgene | THBS1 | GO:0016477 | cell migration | 18555217 |
| Tgene | THBS1 | GO:0016525 | negative regulation of angiogenesis | 16150726 |
| Tgene | THBS1 | GO:0016525 | negative regulation of angiogenesis | 17596205|17996481|18726995 |
| Tgene | THBS1 | GO:0018149 | peptide cross-linking | 3997886 |
| Tgene | THBS1 | GO:0030194 | positive regulation of blood coagulation | 3997886 |
| Tgene | THBS1 | GO:0030335 | positive regulation of cell migration | 15700281 |
| Tgene | THBS1 | GO:0030511 | positive regulation of transforming growth factor beta receptor signaling pathway | 18555217 |
| Tgene | THBS1 | GO:0032026 | response to magnesium ion | 6777381 |
| Tgene | THBS1 | GO:0032695 | negative regulation of interleukin-12 production | 16882710 |
| Tgene | THBS1 | GO:0032760 | positive regulation of tumor necrosis factor production | 18726995 |
| Tgene | THBS1 | GO:0038060 | nitric oxide-cGMP-mediated signaling | 17416590 |
| Tgene | THBS1 | GO:0040037 | negative regulation of fibroblast growth factor receptor signaling pathway | 17996481 |
| Tgene | THBS1 | GO:0043032 | positive regulation of macrophage activation | 18757424 |
| Tgene | THBS1 | GO:0043066 | negative regulation of apoptotic process | 18653767 |
| Tgene | THBS1 | GO:0043154 | negative regulation of cysteine-type endopeptidase activity involved in apoptotic process | 18653767 |
| Tgene | THBS1 | GO:0043536 | positive regulation of blood vessel endothelial cell migration | 18555217 |
| Tgene | THBS1 | GO:0043537 | negative regulation of blood vessel endothelial cell migration | 18555217 |
| Tgene | THBS1 | GO:0043652 | engulfment of apoptotic cell | 16882710 |
| Tgene | THBS1 | GO:0045727 | positive regulation of translation | 15700281 |
| Tgene | THBS1 | GO:0048661 | positive regulation of smooth muscle cell proliferation | 24615654 |
| Tgene | THBS1 | GO:0050921 | positive regulation of chemotaxis | 18555217 |
| Tgene | THBS1 | GO:0051592 | response to calcium ion | 6777381|18757424 |
| Tgene | THBS1 | GO:0051897 | positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction | 18653767 |
| Tgene | THBS1 | GO:0051918 | negative regulation of fibrinolysis | 6438154 |
| Tgene | THBS1 | GO:1902043 | positive regulation of extrinsic apoptotic signaling pathway via death domain receptors | 18726995 |
| Tgene | THBS1 | GO:2000353 | positive regulation of endothelial cell apoptotic process | 18726995 |
| Tgene | THBS1 | GO:2000379 | positive regulation of reactive oxygen species metabolic process | 18757424 |
| Tgene | THBS1 | GO:2001027 | negative regulation of endothelial cell chemotaxis | 16150726 |
| Kinase Fusion gene breakpoints across BUB1B (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Kinase Fusion gene breakpoints across THBS1 (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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Kinase Fusion Gene Sample Information |
| Kinase Fusion gene information. |
| Kinase Fusion gene information from four resources (ChiTars 5.0, ChimerDB 4.0, COSMIC, and CCLE) * 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 | Sample | Hgene | Hchr | Hbp | Tgene | Tchr | Tbp |
| ChimerDB4 | TCGA-AR-A256-01A | BUB1B | chr15 | 40462882 | THBS1 | chr15 | 39879548 |
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Kinase Fusion ORF Analysis |
| Kinase Fusion information from ORFfinder translation from full-length transcript sequence from KinaseFusionDB. |
| Henst | Tenst | Hgene | Hchr | Hbp | Tgene | Tchr | Tbp | Seq length (transcript) | Seq length (amino acids) |
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Kinase Fusion Amino Acid Sequences |
| For individual full-length fusion transcript sequence from KinaseFusionDB, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
| >Henst_Tenst_Hgene_Hchr_Hbp_Tgene_Tchr_Tbp_length(fusion AA)_AAseq |
Multiple Sequence Alignment of All Fusion Protein Isoforms |
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Kinase 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/:40462882/:39879548) - 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 |
| BUB1B | THBS1 |
| FUNCTION: Essential component of the mitotic checkpoint. Required for normal mitosis progression. The mitotic checkpoint delays anaphase until all chromosomes are properly attached to the mitotic spindle. One of its checkpoint functions is to inhibit the activity of the anaphase-promoting complex/cyclosome (APC/C) by blocking the binding of CDC20 to APC/C, independently of its kinase activity. The other is to monitor kinetochore activities that depend on the kinetochore motor CENPE. Required for kinetochore localization of CENPE. Negatively regulates PLK1 activity in interphase cells and suppresses centrosome amplification. Also implicated in triggering apoptosis in polyploid cells that exit aberrantly from mitotic arrest. May play a role for tumor suppression. {ECO:0000269|PubMed:10477750, ECO:0000269|PubMed:11702782, ECO:0000269|PubMed:14706340, ECO:0000269|PubMed:15020684, ECO:0000269|PubMed:19411850, ECO:0000269|PubMed:19503101}. | FUNCTION: Adhesive glycoprotein that mediates cell-to-cell and cell-to-matrix interactions (PubMed:2430973, PubMed:6489349, PubMed:15014436, PubMed:18285447). Multifunctional, involved in inflammation, angiogenesis, wound healing, reactive oxygen species (ROS) signaling, nitrous oxide (NO) signaling, apoptosis, senescence, aging, cellular self-renewal, stemness, and cardiovascular and metabolic homeostasis (PubMed:14568985, PubMed:1371676, PubMed:10613822, PubMed:11134179, PubMed:24511121, PubMed:29042481, PubMed:32679764). Negatively modulates dendritic cell activation and cytokine release, as part of an autocrine feedback loop, contributing to the resolution of inflammation and immune homeostasis (PubMed:14568985). Ligand for receptor CD47 (PubMed:8550562, PubMed:19004835). Modulates nitrous oxide (NO) signaling via CD47, hence playing a role as a pressor agent, supporting blood pressure (By similarity). Plays a role in endothelial cell senescence, acting via CD47, by increasing the abundance and activation of NADPH oxidase NOX1, and so generating excess ROS (PubMed:29042481). Inhibits stem cell self-renewal, acting via CD47 signaling, probably by regulation of the stem cell transcription factors POU5F1/OCT4, SOX2, MYC/c-Myc and KLF4 (By similarity). Negatively modulates wound healing, acting via CD47 (By similarity). Ligand for receptor CD36 (PubMed:1371676, PubMed:10613822, PubMed:11134179). Involved in inducing apoptosis in podocytes in response to elevated free fatty acids, acting via CD36 (By similarity). Plays a role in suppressing angiogenesis, acting, depending on context, via CD36 or CD47 (PubMed:1371676, PubMed:10613822, PubMed:32679764, PubMed:11134179). Promotes cellular senescence in a TP53-CDKN1A-RB1 signaling-dependent manner (PubMed:29042481). Ligand for immunoglobulin-like cell surface receptor SIRPA (PubMed:24511121). Involved in ROS signaling in non-phagocytic cells, stimulating NADPH oxidase-derived ROS production, acting via interaction with SIRPA (PubMed:24511121). Plays a role in metabolic dysfunction in diet-induced obesity, perhaps acting by exacerbating adipose inflammatory activity; its effects may be mediated, at least in part, through enhanced adipocyte proliferation (By similarity). Plays a role in ER stress response, via its interaction with the activating transcription factor 6 alpha (ATF6) which produces adaptive ER stress response factors (By similarity). May be involved in age-related conditions, including metabolic dysregulation, during normal aging (PubMed:29042481, PubMed:32679764). {ECO:0000250|UniProtKB:P35441, ECO:0000269|PubMed:10613822, ECO:0000269|PubMed:11134179, ECO:0000269|PubMed:1371676, ECO:0000269|PubMed:14568985, ECO:0000269|PubMed:15014436, ECO:0000269|PubMed:18285447, ECO:0000269|PubMed:19004835, ECO:0000269|PubMed:2430973, ECO:0000269|PubMed:24511121, ECO:0000269|PubMed:29042481, ECO:0000269|PubMed:32679764, ECO:0000269|PubMed:6489349, ECO:0000269|PubMed:8550562}. |
| 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 domain in the 5'-partner of fusion protein (protein functional feature from UniProt). |
| Partner | Hgeneene | Hbp | Tgeneene | Tbp | ENST | BPexon | TotalExon | Protein feature loci | BPloci | TotalLen | Feature | Note |
| - Retained domain in the 3'-partner of fusion protein (protein functional feature from UniProt). |
| Partner | Hgeneene | Hbp | Tgeneene | Tbp | ENST | BPexon | TotalExon | Protein feature loci | BPloci | TotalLen | Feature | Note |
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Kinase-Substrate Information of BUB1B_THBS1 |
| Phosphorylation target of the kinase (phosphosite, 03-17-2024) |
| Kinase | Kinase UniProt Acc | Kinase species | Substrate | Substrate UniProt Acc | Substrate phosphorylated residues | Substrate phosphorylated sites (+/-7AA) | Domain |
| Biological Network Integration of This Kinase and Substrates (GeneMANIA website) |
| Enriched GO biological processes of the phosphorylation target genes of the kinase |
| Kinase | GOID | GO term | P.adjust |
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Related Drugs to BUB1B_THBS1 |
| Drugs used for this fusion-positive patient. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Drug | Source | PMID |
| Distribution of the number of studies mentioning BUB1B-THBS1 and kinase inhibitors the PubMed Abstract (04-01-2024) |
| Fusion gene - drug pair 1 | Fusion gene - drug pair 2 | PMID | Publication date | DOI | Study title |
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Related Diseases to BUB1B_THBS1 |
| Diseases that have this fusion gene. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Disease | Source | PMID |
| Related diseases from the literature mentioned this fusion gene and drug. (PubMed, 04-01-2024) |
| MeSH ID | MeSH term |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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Clinical Trials of the Found Drugs/Small Molecules |
| Statistics of the Clinical Trials of the Found Kinase Inibitors from clinicaltrials.gov (06-17-2024) |
| Clinical Trials from clinicaltrials.gov (06-17-2024) |
| Fusion Gene | Kinase Inhibitor | NCT ID | Study Status | Phases | Disease | # Enrolment | Date |
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