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Kinase Fusion Gene:MAST3_EHMT2 |
Kinase Fusion Protein Summary |
 Kinase Fusion gene summary |
| Kinase Fusion partner gene information | Kinase Fusion gene name: MAST3_EHMT2 | KinaseFusionDB ID: KFG3695 | FusionGDB2.0 ID: KFG3695 | Hgene | Tgene | Gene symbol | MAST3 | EHMT2 | Gene ID | 23031 | 10919 | |
| Gene name | microtubule associated serine/threonine kinase 3 | euchromatic histone lysine methyltransferase 2 | ||||||||||
| Synonyms | DEE108 | BAT8|C6orf30|G9A|GAT8|KMT1C|NG36 | ||||||||||
| Cytomap | 19p13.11 | 6p21.33 | ||||||||||
| Type of gene | protein-coding | protein-coding | ||||||||||
| Description | microtubule-associated serine/threonine-protein kinase 3 | histone-lysine N-methyltransferase EHMT2G9A histone methyltransferaseH3-K9-HMTase 3HLA-B associated transcript 8ankyrin repeat-containing proteineuchromatic histone-lysine N-methyltransferase 2histone H3-K9 methyltransferase 3histone-lysine N-methy | ||||||||||
| Modification date | 20240305 | 20240411 | ||||||||||
| UniProtAcc | O60307 | Q96KQ7 | ||||||||||
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000262811, ENST00000608648, | ENST00000375528, ENST00000375530, ENST00000375537, ENST00000395728, ENST00000480912, ENST00000383372, ENST00000383373, ENST00000400006, ENST00000400008, ENST00000415323, ENST00000420336, ENST00000420874, ENST00000420930, ENST00000421926, ENST00000425250, ENST00000427405, ENST00000428442, ENST00000429506, ENST00000436403, ENST00000440987, ENST00000443951, ENST00000446303, ENST00000450075, ENST00000450229, ENST00000450323, ENST00000454705, ENST00000467139, ENST00000469681, ENST00000487513, ENST00000497104, ENST00000497361, ENST00000498185, ENST00000546877, ENST00000547244, ENST00000550866, ENST00000551865, ENST00000552339, | |||||||||
| Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: MAST3 [Title/Abstract] AND EHMT2 [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | MAST3(18228513)-EHMT2(31848540), # 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 | EHMT2 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 19144645 |
| Tgene | EHMT2 | GO:0009267 | cellular response to starvation | 23918802 |
| Tgene | EHMT2 | GO:0018027 | peptidyl-lysine dimethylation | 20118233 |
| Kinase Fusion gene breakpoints across MAST3 (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 EHMT2 (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 | BF873412 | MAST3 | chr19 | 18228513 | EHMT2 | chr6 | 31848540 |
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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/:18228513/:31848540) - 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 |
| MAST3 | EHMT2 |
| FUNCTION: Histone methyltransferase that specifically mono- and dimethylates 'Lys-9' of histone H3 (H3K9me1 and H3K9me2, respectively) in euchromatin. H3K9me represents a specific tag for epigenetic transcriptional repression by recruiting HP1 proteins to methylated histones. Also mediates monomethylation of 'Lys-56' of histone H3 (H3K56me1) in G1 phase, leading to promote interaction between histone H3 and PCNA and regulating DNA replication. Also weakly methylates 'Lys-27' of histone H3 (H3K27me). Also required for DNA methylation, the histone methyltransferase activity is not required for DNA methylation, suggesting that these 2 activities function independently. Probably targeted to histone H3 by different DNA-binding proteins like E2F6, MGA, MAX and/or DP1. May also methylate histone H1. In addition to the histone methyltransferase activity, also methylates non-histone proteins: mediates dimethylation of 'Lys-373' of p53/TP53. Also methylates CDYL, WIZ, ACIN1, DNMT1, HDAC1, ERCC6, KLF12 and itself. Recruited to the promoters of target genes through interaction with transcriptional repressor MSX1, leading to the inhibition of myoblast differentiation via transcriptional repression of differentiation factors (By similarity). {ECO:0000250|UniProtKB:Q9Z148, ECO:0000269|PubMed:11316813, ECO:0000269|PubMed:18438403, ECO:0000269|PubMed:20084102, ECO:0000269|PubMed:20118233, ECO:0000269|PubMed:22387026, ECO:0000269|PubMed:8457211}. |
| 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 MAST3_EHMT2 |
| 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 |
| MAST3 | O60307 | human | ARPP19 | P56211-2 | S46 | 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 |
| MAST3 | ID | Description | 0.00e+00 |
| MAST3 | GO:0045722 | positive regulation of gluconeogenesis | 1.21e-02 |
| MAST3 | GO:0035308 | negative regulation of protein dephosphorylation | 1.21e-02 |
| MAST3 | GO:0035305 | negative regulation of dephosphorylation | 1.21e-02 |
| MAST3 | GO:0046326 | positive regulation of glucose import | 1.21e-02 |
| MAST3 | GO:0010828 | positive regulation of glucose transmembrane transport | 1.21e-02 |
| MAST3 | GO:0010907 | positive regulation of glucose metabolic process | 1.21e-02 |
| MAST3 | GO:0006111 | regulation of gluconeogenesis | 1.21e-02 |
| MAST3 | GO:0046324 | regulation of glucose import | 1.21e-02 |
| MAST3 | GO:0035304 | regulation of protein dephosphorylation | 1.21e-02 |
| MAST3 | GO:0046323 | glucose import | 1.21e-02 |
| MAST3 | GO:0010827 | regulation of glucose transmembrane transport | 1.21e-02 |
| MAST3 | GO:0045913 | positive regulation of carbohydrate metabolic process | 1.21e-02 |
| MAST3 | GO:0006094 | gluconeogenesis | 1.21e-02 |
| MAST3 | GO:0019319 | hexose biosynthetic process | 1.21e-02 |
| MAST3 | GO:0046364 | monosaccharide biosynthetic process | 1.21e-02 |
| MAST3 | GO:0010906 | regulation of glucose metabolic process | 1.21e-02 |
| MAST3 | GO:0043255 | regulation of carbohydrate biosynthetic process | 1.21e-02 |
| MAST3 | GO:0035303 | regulation of dephosphorylation | 1.21e-02 |
| MAST3 | GO:1904659 | glucose transmembrane transport | 1.21e-02 |
| MAST3 | GO:0008645 | hexose transmembrane transport | 1.21e-02 |
| MAST3 | GO:0015749 | monosaccharide transmembrane transport | 1.21e-02 |
| MAST3 | GO:0034219 | carbohydrate transmembrane transport | 1.26e-02 |
| MAST3 | GO:0000086 | G2/M transition of mitotic cell cycle | 1.26e-02 |
| MAST3 | GO:0062013 | positive regulation of small molecule metabolic process | 1.26e-02 |
| MAST3 | GO:0044839 | cell cycle G2/M phase transition | 1.26e-02 |
| MAST3 | GO:0008643 | carbohydrate transport | 1.26e-02 |
| MAST3 | GO:0006109 | regulation of carbohydrate metabolic process | 1.42e-02 |
| MAST3 | GO:0006006 | glucose metabolic process | 1.42e-02 |
| MAST3 | GO:0006470 | protein dephosphorylation | 1.45e-02 |
| MAST3 | GO:0016051 | carbohydrate biosynthetic process | 1.45e-02 |
| MAST3 | GO:0034764 | positive regulation of transmembrane transport | 1.45e-02 |
| MAST3 | GO:0019318 | hexose metabolic process | 1.50e-02 |
| MAST3 | GO:0005996 | monosaccharide metabolic process | 1.63e-02 |
| MAST3 | GO:0016311 | dephosphorylation | 1.84e-02 |
| MAST3 | GO:0062012 | regulation of small molecule metabolic process | 1.99e-02 |
| MAST3 | GO:0045936 | negative regulation of phosphate metabolic process | 2.11e-02 |
| MAST3 | GO:0010563 | negative regulation of phosphorus metabolic process | 2.11e-02 |
| MAST3 | GO:0031400 | negative regulation of protein modification process | 2.38e-02 |
| MAST3 | GO:0044772 | mitotic cell cycle phase transition | 2.49e-02 |
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Related Drugs to MAST3_EHMT2 |
| 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 MAST3-EHMT2 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 MAST3_EHMT2 |
| 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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