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Kinase Fusion Gene:BAG6_MASTL |
Kinase Fusion Protein Summary |
 Kinase Fusion gene summary |
| Kinase Fusion partner gene information | Kinase Fusion gene name: BAG6_MASTL | KinaseFusionDB ID: KFG544 | FusionGDB2.0 ID: KFG544 | Hgene | Tgene | Gene symbol | BAG6 | MASTL | Gene ID | 7917 | 84930 | |
| Gene name | BAG cochaperone 6 | microtubule associated serine/threonine kinase like | ||||||||||
| Synonyms | BAG-6|BAT3|D6S52E|G3 | GREATWALL|GW|GWL|MAST-L|THC2 | ||||||||||
| Cytomap | 6p21.33 | 10p12.1 | ||||||||||
| Type of gene | protein-coding | protein-coding | ||||||||||
| Description | large proline-rich protein BAG6BAG family molecular chaperone regulator 6BCL2 associated athanogene 6HLA-B-associated transcript 3large proline-rich protein BAT3protein G3protein Scythescythe | serine/threonine-protein kinase greatwallgreatwall kinase homologgreatwall protein kinase | ||||||||||
| Modification date | 20240411 | 20240403 | ||||||||||
| UniProtAcc | P46379 | Q96GX5 | ||||||||||
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000211379, ENST00000361076, ENST00000362049, ENST00000375964, ENST00000375976, ENST00000383446, ENST00000383448, ENST00000404765, ENST00000412012, ENST00000413922, ENST00000415345, ENST00000415373, ENST00000417144, ENST00000419847, ENST00000422756, ENST00000425649, ENST00000434446, ENST00000439687, ENST00000442479, ENST00000443182, ENST00000444402, ENST00000449450, ENST00000451932, ENST00000454478, ENST00000460147, ENST00000460429, ENST00000461852, ENST00000463220, ENST00000470875, ENST00000471376, ENST00000497694, ENST00000546462, ENST00000550393, ENST00000551350, ENST00000552116, ENST00000552467, ENST00000552605, | ENST00000375946, ENST00000342386, ENST00000375940, ENST00000477034, | |||||||||
| Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: BAG6 [Title/Abstract] AND MASTL [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | BAG6(31620466)-MASTL(27444109), # 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 | BAG6 | GO:0002429 | immune response-activating cell surface receptor signaling pathway | 18852879 |
| Hgene | BAG6 | GO:0006511 | ubiquitin-dependent protein catabolic process | 20676083 |
| Hgene | BAG6 | GO:0006620 | post-translational protein targeting to endoplasmic reticulum membrane | 25535373 |
| Hgene | BAG6 | GO:0006915 | apoptotic process | 14960581 |
| Hgene | BAG6 | GO:0018393 | internal peptidyl-lysine acetylation | 17403783 |
| Hgene | BAG6 | GO:0030101 | natural killer cell activation | 18852879 |
| Hgene | BAG6 | GO:0031647 | regulation of protein stability | 21636303 |
| Hgene | BAG6 | GO:0036503 | ERAD pathway | 23129660|24981174 |
| Hgene | BAG6 | GO:0071816 | tail-anchored membrane protein insertion into ER membrane | 20676083|25535373 |
| Kinase Fusion gene breakpoints across BAG6 (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 MASTL (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 |
| ChiTaRS5.0 | AF179033 | BAG6 | chr6 | 31620466 | MASTL | chr10 | 27444109 |
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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/:31620466/:27444109) - 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 |
| BAG6 | MASTL |
| FUNCTION: ATP-independent molecular chaperone preventing the aggregation of misfolded and hydrophobic patches-containing proteins (PubMed:21636303). Functions as part of a cytosolic protein quality control complex, the BAG6/BAT3 complex, which maintains these client proteins in a soluble state and participates in their proper delivery to the endoplasmic reticulum or alternatively can promote their sorting to the proteasome where they undergo degradation (PubMed:20516149, PubMed:21636303, PubMed:21743475, PubMed:28104892). The BAG6/BAT3 complex is involved in the post-translational delivery of tail-anchored/type II transmembrane proteins to the endoplasmic reticulum membrane. Recruited to ribosomes, it interacts with the transmembrane region of newly synthesized tail-anchored proteins and together with SGTA and ASNA1 mediates their delivery to the endoplasmic reticulum (PubMed:20516149, PubMed:20676083, PubMed:28104892, PubMed:25535373). Client proteins that cannot be properly delivered to the endoplasmic reticulum are ubiquitinated by RNF126, an E3 ubiquitin-protein ligase associated with BAG6 and are sorted to the proteasome (PubMed:24981174, PubMed:28104892, PubMed:27193484). SGTA which prevents the recruitment of RNF126 to BAG6 may negatively regulate the ubiquitination and the proteasomal degradation of client proteins (PubMed:23129660, PubMed:25179605, PubMed:27193484). Similarly, the BAG6/BAT3 complex also functions as a sorting platform for proteins of the secretory pathway that are mislocalized to the cytosol either delivering them to the proteasome for degradation or to the endoplasmic reticulum (PubMed:21743475). The BAG6/BAT3 complex also plays a role in the endoplasmic reticulum-associated degradation (ERAD), a quality control mechanism that eliminates unwanted proteins of the endoplasmic reticulum through their retrotranslocation to the cytosol and their targeting to the proteasome. It maintains these retrotranslocated proteins in an unfolded yet soluble state condition in the cytosol to ensure their proper delivery to the proteasome (PubMed:21636303). BAG6 is also required for selective ubiquitin-mediated degradation of defective nascent chain polypeptides by the proteasome. In this context, it may participate in the production of antigenic peptides and play a role in antigen presentation in immune response (By similarity). BAG6 is also involved in endoplasmic reticulum stress-induced pre-emptive quality control, a mechanism that selectively attenuates the translocation of newly synthesized proteins into the endoplasmic reticulum and reroutes them to the cytosol for proteasomal degradation. BAG6 may ensure the proper degradation of these proteins and thereby protects the endoplasmic reticulum from protein overload upon stress (PubMed:26565908). By inhibiting the polyubiquitination and subsequent proteasomal degradation of HSPA2 it may also play a role in the assembly of the synaptonemal complex during spermatogenesis (By similarity). Also positively regulates apoptosis by interacting with and stabilizing the proapoptotic factor AIFM1 (By similarity). By controlling the steady-state expression of the IGF1R receptor, indirectly regulates the insulin-like growth factor receptor signaling pathway (PubMed:26692333). {ECO:0000250|UniProtKB:Q9Z1R2, ECO:0000269|PubMed:20516149, ECO:0000269|PubMed:20676083, ECO:0000269|PubMed:21636303, ECO:0000269|PubMed:21743475, ECO:0000269|PubMed:23129660, ECO:0000269|PubMed:24981174, ECO:0000269|PubMed:25179605, ECO:0000269|PubMed:26565908, ECO:0000269|PubMed:26692333, ECO:0000269|PubMed:27193484, ECO:0000269|PubMed:28104892}.; FUNCTION: Involved in DNA damage-induced apoptosis: following DNA damage, accumulates in the nucleus and forms a complex with p300/EP300, enhancing p300/EP300-mediated p53/TP53 acetylation leading to increase p53/TP53 transcriptional activity (PubMed:17403783). When nuclear, may also act as a component of some chromatin regulator complex that regulates histone 3 'Lys-4' dimethylation (H3K4me2) (PubMed:18765639). {ECO:0000269|PubMed:17403783, ECO:0000269|PubMed:18765639}.; FUNCTION: Released extracellularly via exosomes, it is a ligand of the natural killer/NK cells receptor NCR3 and stimulates NK cells cytotoxicity. It may thereby trigger NK cells cytotoxicity against neighboring tumor cells and immature myeloid dendritic cells (DC). {ECO:0000269|PubMed:18055229, ECO:0000269|PubMed:18852879}.; FUNCTION: Mediates ricin-induced apoptosis. {ECO:0000269|PubMed:14960581}. | FUNCTION: Serine/threonine kinase that plays a key role in M phase by acting as a regulator of mitosis entry and maintenance. Acts by promoting the inactivation of protein phosphatase 2A (PP2A) during M phase: does not directly inhibit PP2A but acts by mediating phosphorylation and subsequent activation of ARPP19 and ENSA at 'Ser-62' and 'Ser-67', respectively. ARPP19 and ENSA are phosphatase inhibitors that specifically inhibit the PPP2R2D (PR55-delta) subunit of PP2A. Inactivation of PP2A during M phase is essential to keep cyclin-B1-CDK1 activity high. Following DNA damage, it is also involved in checkpoint recovery by being inhibited. Phosphorylates histone protein in vitro; however such activity is unsure in vivo. May be involved in megakaryocyte differentiation. {ECO:0000269|PubMed:12890928, ECO:0000269|PubMed:19680222, ECO:0000269|PubMed:19793917, ECO:0000269|PubMed:20538976, ECO:0000269|PubMed:20818157}. |
| 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 BAG6_MASTL |
| 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 |
| MASTL | Q96GX5 | human | ENSA | O43768 | S67 | kGQkyFDsGDyNMAk | Endosulfine |
| MASTL | Q96GX5 | human | ARPP19 | P56211 | S62 | kGQkyFDsGDyNMAk | Endosulfine |
| 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 |
| MASTL | ID | Description | 0.00e+00 |
| MASTL | GO:0035308 | negative regulation of protein dephosphorylation | 9.69e-05 |
| MASTL | GO:0035305 | negative regulation of dephosphorylation | 9.69e-05 |
| MASTL | GO:0035304 | regulation of protein dephosphorylation | 3.18e-04 |
| MASTL | GO:0035303 | regulation of dephosphorylation | 4.53e-04 |
| MASTL | GO:0000086 | G2/M transition of mitotic cell cycle | 6.34e-04 |
| MASTL | GO:0044839 | cell cycle G2/M phase transition | 6.48e-04 |
| MASTL | GO:0006470 | protein dephosphorylation | 9.54e-04 |
| MASTL | GO:0016311 | dephosphorylation | 1.85e-03 |
| MASTL | GO:0045936 | negative regulation of phosphate metabolic process | 2.31e-03 |
| MASTL | GO:0010563 | negative regulation of phosphorus metabolic process | 2.31e-03 |
| MASTL | GO:0031400 | negative regulation of protein modification process | 2.82e-03 |
| MASTL | GO:0044772 | mitotic cell cycle phase transition | 2.99e-03 |
| MASTL | GO:0045722 | positive regulation of gluconeogenesis | 9.93e-03 |
| MASTL | GO:0046326 | positive regulation of glucose import | 1.62e-02 |
| MASTL | GO:0010828 | positive regulation of glucose transmembrane transport | 1.73e-02 |
| MASTL | GO:0010907 | positive regulation of glucose metabolic process | 1.73e-02 |
| MASTL | GO:0006111 | regulation of gluconeogenesis | 1.91e-02 |
| MASTL | GO:0046324 | regulation of glucose import | 2.05e-02 |
| MASTL | GO:0046323 | glucose import | 2.37e-02 |
| MASTL | GO:0010827 | regulation of glucose transmembrane transport | 2.37e-02 |
| MASTL | GO:0045913 | positive regulation of carbohydrate metabolic process | 2.37e-02 |
| MASTL | GO:0006094 | gluconeogenesis | 2.48e-02 |
| MASTL | GO:0019319 | hexose biosynthetic process | 2.48e-02 |
| MASTL | GO:0046364 | monosaccharide biosynthetic process | 2.48e-02 |
| MASTL | GO:0010906 | regulation of glucose metabolic process | 2.48e-02 |
| MASTL | GO:0043255 | regulation of carbohydrate biosynthetic process | 2.48e-02 |
| MASTL | GO:1904659 | glucose transmembrane transport | 2.60e-02 |
| MASTL | GO:0008645 | hexose transmembrane transport | 2.60e-02 |
| MASTL | GO:0015749 | monosaccharide transmembrane transport | 2.60e-02 |
| MASTL | GO:0034219 | carbohydrate transmembrane transport | 2.78e-02 |
| MASTL | GO:0062013 | positive regulation of small molecule metabolic process | 2.90e-02 |
| MASTL | GO:0007584 | response to nutrient | 2.95e-02 |
| MASTL | GO:0008643 | carbohydrate transport | 2.95e-02 |
| MASTL | GO:0050796 | regulation of insulin secretion | 2.97e-02 |
| MASTL | GO:0006109 | regulation of carbohydrate metabolic process | 3.06e-02 |
| MASTL | GO:0006006 | glucose metabolic process | 3.06e-02 |
| MASTL | GO:0090276 | regulation of peptide hormone secretion | 3.06e-02 |
| MASTL | GO:0002791 | regulation of peptide secretion | 3.06e-02 |
| MASTL | GO:0030073 | insulin secretion | 3.06e-02 |
| MASTL | GO:0090087 | regulation of peptide transport | 3.06e-02 |
| MASTL | GO:0016051 | carbohydrate biosynthetic process | 3.16e-02 |
| MASTL | GO:0034764 | positive regulation of transmembrane transport | 3.16e-02 |
| MASTL | GO:0019318 | hexose metabolic process | 3.31e-02 |
| MASTL | GO:0030072 | peptide hormone secretion | 3.31e-02 |
| MASTL | GO:0002790 | peptide secretion | 3.31e-02 |
| MASTL | GO:0046883 | regulation of hormone secretion | 3.31e-02 |
| MASTL | GO:0005996 | monosaccharide metabolic process | 3.31e-02 |
| MASTL | GO:0015833 | peptide transport | 3.31e-02 |
| MASTL | GO:0050708 | regulation of protein secretion | 3.31e-02 |
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Related Drugs to BAG6_MASTL |
| 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 BAG6-MASTL 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 BAG6_MASTL |
| 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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