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Kinase Fusion Gene:PKMYT1_PPP2R1A |
Kinase Fusion Protein Summary |
 Kinase Fusion gene summary |
| Kinase Fusion partner gene information | Kinase Fusion gene name: PKMYT1_PPP2R1A | KinaseFusionDB ID: KFG4692 | FusionGDB2.0 ID: KFG4692 | Hgene | Tgene | Gene symbol | PKMYT1 | PPP2R1A | Gene ID | 9088 | 5518 | |
| Gene name | protein kinase, membrane associated tyrosine/threonine 1 | protein phosphatase 2 scaffold subunit Aalpha | ||||||||||
| Synonyms | MYT1|PPP1R126 | HJS2|MRD36|PP2A-Aalpha|PP2AA|PP2AAALPHA|PR65A | ||||||||||
| Cytomap | 16p13.3 | 19q13.41 | ||||||||||
| Type of gene | protein-coding | protein-coding | ||||||||||
| Description | membrane-associated tyrosine- and threonine-specific cdc2-inhibitory kinasemyt1 kinaseprotein phosphatase 1, regulatory subunit 126 | serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A alpha isoformmedium tumor antigen-associated 61 KDA proteinprotein phosphatase 2, regulatory subunit A, alphatesticular secretory protein Li 1 | ||||||||||
| Modification date | 20240403 | 20240411 | ||||||||||
| UniProtAcc | Q99640 | P30153 | ||||||||||
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000571102, ENST00000431515, ENST00000440027, ENST00000262300, ENST00000574385, ENST00000574730, ENST00000573944, | ENST00000322088, ENST00000444322, ENST00000477989, ENST00000462990, ENST00000473455, | |||||||||
| Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: PKMYT1 [Title/Abstract] AND PPP2R1A [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | ||||||||||||
| 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 | PKMYT1 | GO:0010972 | negative regulation of G2/M transition of mitotic cell cycle | 9268380 |
| Tgene | PPP2R1A | GO:0007059 | chromosome segregation | 16580887 |
| Kinase Fusion gene breakpoints across PKMYT1 (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 PPP2R1A (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 |
| CCLE | YH-13 | PKMYT1 | chr16 | 3026919 | PPP2R1A | chr19 | 52728978 |
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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/:/:) - 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 |
| PKMYT1 | PPP2R1A |
| FUNCTION: Acts as a negative regulator of entry into mitosis (G2 to M transition) by phosphorylation of the CDK1 kinase specifically when CDK1 is complexed to cyclins. Mediates phosphorylation of CDK1 predominantly on 'Thr-14'. Also involved in Golgi fragmentation. May be involved in phosphorylation of CDK1 on 'Tyr-15' to a lesser degree, however tyrosine kinase activity is unclear and may be indirect. May be a downstream target of Notch signaling pathway during eye development. {ECO:0000269|PubMed:10373560, ECO:0000269|PubMed:9001210}. | FUNCTION: The PR65 subunit of protein phosphatase 2A serves as a scaffolding molecule to coordinate the assembly of the catalytic subunit and a variable regulatory B subunit. Upon interaction with GNA12 promotes dephosphorylation of microtubule associated protein TAU/MAPT (PubMed:15525651). Required for proper chromosome segregation and for centromeric localization of SGO1 in mitosis (PubMed:16580887). Together with RACK1 adapter, mediates dephosphorylation of AKT1 at 'Ser-473', preventing AKT1 activation and AKT-mTOR signaling pathway (By similarity). Dephosphorylation of AKT1 is essential for regulatory T-cells (Treg) homeostasis and stability (By similarity). {ECO:0000250|UniProtKB:Q76MZ3, ECO:0000269|PubMed:15525651, ECO:0000269|PubMed:16580887}. |
| 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 PKMYT1_PPP2R1A |
| 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 |
| PKMYT1 | Q99640 | human | CDK1 | P06493 | T14 | IEkIGEGtyGVVykG | Pkinase |
| PKMYT1 | Q99640 | human | CDK1 | P06493 | Y15 | EkIGEGtyGVVykGR | Pkinase |
| 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 |
| PKMYT1 | ID | Description | 0.00e+00 |
| PKMYT1 | GO:0055015 | ventricular cardiac muscle cell development | 1.56e-02 |
| PKMYT1 | GO:0055012 | ventricular cardiac muscle cell differentiation | 1.56e-02 |
| PKMYT1 | GO:0034501 | protein localization to kinetochore | 1.56e-02 |
| PKMYT1 | GO:0048308 | organelle inheritance | 1.56e-02 |
| PKMYT1 | GO:0048313 | Golgi inheritance | 1.56e-02 |
| PKMYT1 | GO:1903083 | protein localization to condensed chromosome | 1.56e-02 |
| PKMYT1 | GO:0051984 | positive regulation of chromosome segregation | 1.56e-02 |
| PKMYT1 | GO:0010971 | positive regulation of G2/M transition of mitotic cell cycle | 1.56e-02 |
| PKMYT1 | GO:0060045 | positive regulation of cardiac muscle cell proliferation | 1.56e-02 |
| PKMYT1 | GO:1902751 | positive regulation of cell cycle G2/M phase transition | 1.56e-02 |
| PKMYT1 | GO:0055023 | positive regulation of cardiac muscle tissue growth | 1.56e-02 |
| PKMYT1 | GO:0007095 | mitotic G2 DNA damage checkpoint signaling | 1.56e-02 |
| PKMYT1 | GO:0046688 | response to copper ion | 1.56e-02 |
| PKMYT1 | GO:0045740 | positive regulation of DNA replication | 1.56e-02 |
| PKMYT1 | GO:0014037 | Schwann cell differentiation | 1.56e-02 |
| PKMYT1 | GO:0042307 | positive regulation of protein import into nucleus | 1.56e-02 |
| PKMYT1 | GO:0060421 | positive regulation of heart growth | 1.56e-02 |
| PKMYT1 | GO:0071459 | protein localization to chromosom | 2.12e-03 |
| PKMYT1 | GO:0030261 | chromosome condensation | 1.56e-02 |
| PKMYT1 | GO:0060043 | regulation of cardiac muscle cell proliferation | 1.56e-02 |
| PKMYT1 | GO:0046622 | positive regulation of organ growth | 1.56e-02 |
| PKMYT1 | GO:0044818 | mitotic G2/M transition checkpoint | 1.56e-02 |
| PKMYT1 | GO:0033047 | regulation of mitotic sister chromatid segregation | 1.56e-02 |
| PKMYT1 | GO:0042306 | regulation of protein import into nucleus | 1.56e-02 |
| PKMYT1 | GO:0046686 | response to cadmium ion | 1.56e-02 |
| PKMYT1 | GO:0060038 | cardiac muscle cell proliferation | 1.56e-02 |
| PKMYT1 | GO:0046824 | positive regulation of nucleocytoplasmic transport | 1.56e-02 |
| PKMYT1 | GO:0031100 | animal organ regeneration | 1.56e-02 |
| PKMYT1 | GO:0055021 | regulation of cardiac muscle tissue growth | 1.56e-02 |
| PKMYT1 | GO:0010972 | negative regulation of G2/M transition of mitotic cell cycle | 1.56e-02 |
| PKMYT1 | GO:0070301 | cellular response to hydrogen peroxide | 1.56e-02 |
| PKMYT1 | GO:1902750 | negative regulation of cell cycle G2/M phase transition | 1.56e-02 |
| PKMYT1 | GO:0060420 | regulation of heart growth | 1.56e-02 |
| PKMYT1 | GO:0014823 | response to activity | 1.56e-02 |
| PKMYT1 | GO:0045685 | regulation of glial cell differentiation | 1.56e-02 |
| PKMYT1 | GO:0007422 | peripheral nervous system development | 1.56e-02 |
| PKMYT1 | GO:0014855 | striated muscle cell proliferation | 1.56e-02 |
| PKMYT1 | GO:0044773 | mitotic DNA damage checkpoint signaling | 1.56e-02 |
| PKMYT1 | GO:0048678 | response to axon injury | 1.56e-02 |
| PKMYT1 | GO:0055013 | cardiac muscle cell development | 1.56e-02 |
| PKMYT1 | GO:0044774 | mitotic DNA integrity checkpoint signaling | 1.56e-02 |
| PKMYT1 | GO:0055017 | cardiac muscle tissue growth | 1.56e-02 |
| PKMYT1 | GO:0045995 | regulation of embryonic development | 1.56e-02 |
| PKMYT1 | GO:0055006 | cardiac cell development | 1.56e-02 |
| PKMYT1 | GO:1900182 | positive regulation of protein localization to nucleus | 1.56e-02 |
| PKMYT1 | GO:0060419 | heart growth | 1.56e-02 |
| PKMYT1 | GO:1901992 | positive regulation of mitotic cell cycle phase transition | 1.56e-02 |
| PKMYT1 | GO:0046620 | regulation of organ growth | 1.56e-02 |
| PKMYT1 | GO:0018107 | peptidyl-threonine phosphorylation | 1.56e-02 |
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Related Drugs to PKMYT1_PPP2R1A |
| 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 PKMYT1-PPP2R1A 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 PKMYT1_PPP2R1A |
| 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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