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Kinase Fusion Gene:MASTL_RBL1 |
Kinase Fusion Protein Summary |
 Kinase Fusion gene summary |
| Kinase Fusion partner gene information | Kinase Fusion gene name: MASTL_RBL1 | KinaseFusionDB ID: KFG3714 | FusionGDB2.0 ID: KFG3714 | Hgene | Tgene | Gene symbol | MASTL | RBL1 | Gene ID | 84930 | 5933 | |
| Gene name | microtubule associated serine/threonine kinase like | RB transcriptional corepressor like 1 | ||||||||||
| Synonyms | GREATWALL|GW|GWL|MAST-L|THC2 | CP107|PRB1|p107 | ||||||||||
| Cytomap | 10p12.1 | 20q11.23 | ||||||||||
| Type of gene | protein-coding | protein-coding | ||||||||||
| Description | serine/threonine-protein kinase greatwallgreatwall kinase homologgreatwall protein kinase | retinoblastoma-like protein 1107 kDa retinoblastoma-associated proteinretinoblastoma-like 1 | ||||||||||
| Modification date | 20240403 | 20240407 | ||||||||||
| UniProtAcc | Q96GX5 | P28749 | ||||||||||
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000342386, ENST00000375940, ENST00000375946, ENST00000477034, | ENST00000344359, ENST00000373664, ENST00000598590, | |||||||||
| Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: MASTL [Title/Abstract] AND RBL1 [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | MASTL(27469586)-RBL1(35689590), # 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 |
| Tgene | RBL1 | GO:0043550 | regulation of lipid kinase activity | 16286473 |
| Kinase Fusion gene breakpoints across MASTL (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 RBL1 (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 | CD652890 | MASTL | chr10 | 27469586 | RBL1 | chr20 | 35689590 |
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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/:27469586/:35689590) - 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 |
| MASTL | RBL1 |
| 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}. | FUNCTION: Key regulator of entry into cell division (PubMed:17671431). Directly involved in heterochromatin formation by maintaining overall chromatin structure and, in particular, that of constitutive heterochromatin by stabilizing histone methylation (By similarity). Recruits and targets histone methyltransferases KMT5B and KMT5C, leading to epigenetic transcriptional repression (By similarity). Controls histone H4 'Lys-20' trimethylation (By similarity). Probably acts as a transcription repressor by recruiting chromatin-modifying enzymes to promoters (By similarity). Potent inhibitor of E2F-mediated trans-activation (PubMed:8319904). May act as a tumor suppressor (PubMed:8319904). {ECO:0000250|UniProtKB:Q64701, ECO:0000269|PubMed:17671431, ECO:0000269|PubMed:8319904}. |
| 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 MASTL_RBL1 |
| 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 MASTL_RBL1 |
| 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 MASTL-RBL1 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 MASTL_RBL1 |
| 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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