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Kinase Fusion Gene:DMPK_RCN3 |
Kinase Fusion Protein Summary |
 Kinase Fusion gene summary |
| Kinase Fusion partner gene information | Kinase Fusion gene name: DMPK_RCN3 | KinaseFusionDB ID: KFG1704 | FusionGDB2.0 ID: KFG1704 | Hgene | Tgene | Gene symbol | DMPK | RCN3 | Gene ID | 1760 | 57333 | |
| Gene name | DM1 protein kinase | reticulocalbin 3 | ||||||||||
| Synonyms | DM|DM1|DM1PK|DMK|MDPK|MT-PK | RLP49 | ||||||||||
| Cytomap | 19q13.32 | 19q13.33 | ||||||||||
| Type of gene | protein-coding | protein-coding | ||||||||||
| Description | myotonin-protein kinaseDM protein kinasedystrophia myotonica protein kinasemyotonic dystrophy associated protein kinasemyotonin protein kinase Athymopoietin homolog | reticulocalbin-3EF-hand calcium-binding protein RLP49reticulocabinreticulocalbin 3, EF-hand calcium binding domain | ||||||||||
| Modification date | 20240403 | 20240305 | ||||||||||
| UniProtAcc | Q09013 | Q96D15 | ||||||||||
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000291270, ENST00000343373, ENST00000354227, ENST00000447742, ENST00000458663, ENST00000600757, ENST00000595361, | ENST00000593644, ENST00000270645, | |||||||||
| Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: DMPK [Title/Abstract] AND RCN3 [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | DMPK(46282522)-RCN3(50037450), # samples:3 | |||||||||||
| 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 | DMPK | GO:0006468 | protein phosphorylation | 10913253|11287000 |
| Hgene | DMPK | GO:0008016 | regulation of heart contraction | 15598648 |
| Hgene | DMPK | GO:0010657 | muscle cell apoptotic process | 18729234 |
| Kinase Fusion gene breakpoints across DMPK (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 RCN3 (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-PG-A914-01A | DMPK | chr19 | 46282522 | RCN3 | chr19 | 50037450 |
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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/:46282522/:50037450) - 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 |
| DMPK | RCN3 |
| FUNCTION: Non-receptor serine/threonine protein kinase which is necessary for the maintenance of skeletal muscle structure and function. May play a role in myocyte differentiation and survival by regulating the integrity of the nuclear envelope and the expression of muscle-specific genes. May also phosphorylate PPP1R12A and inhibit the myosin phosphatase activity to regulate myosin phosphorylation. Also critical to the modulation of cardiac contractility and to the maintenance of proper cardiac conduction activity probably through the regulation of cellular calcium homeostasis. Phosphorylates PLN, a regulator of calcium pumps and may regulate sarcoplasmic reticulum calcium uptake in myocytes. May also phosphorylate FXYD1/PLM which is able to induce chloride currents. May also play a role in synaptic plasticity. {ECO:0000269|PubMed:10811636, ECO:0000269|PubMed:10913253, ECO:0000269|PubMed:11287000, ECO:0000269|PubMed:15598648, ECO:0000269|PubMed:21457715, ECO:0000269|PubMed:21949239}. | FUNCTION: Probable molecular chaperone assisting protein biosynthesis and transport in the endoplasmic reticulum (PubMed:16433634, PubMed:28939891). Required for the proper biosynthesis and transport of pulmonary surfactant-associated protein A/SP-A, pulmonary surfactant-associated protein D/SP-D and the lipid transporter ABCA3 (By similarity). By regulating both the proper expression and the degradation through the endoplasmic reticulum-associated protein degradation pathway of these proteins plays a crucial role in pulmonary surfactant homeostasis (By similarity). Has an anti-fibrotic activity by negatively regulating the secretion of type I and type III collagens (PubMed:28939891). This calcium-binding protein also transiently associates with immature PCSK6 and regulates its secretion (PubMed:16433634). {ECO:0000250|UniProtKB:Q8BH97, ECO:0000269|PubMed:16433634, ECO:0000269|PubMed:28939891}. |
| 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 DMPK_RCN3 |
| 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 |
| DMPK | Q09013 | human | SRF | P11831 | T159 | DNkLRRYtTFsKRkT | SRF-TF |
| 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 |
| DMPK | ID | Description | 0.00e+00 |
| DMPK | GO:0035907 | dorsal aorta development | 1.19e-02 |
| DMPK | GO:0046015 | regulation of transcription by glucose | 1.19e-02 |
| DMPK | GO:0060947 | cardiac vascular smooth muscle cell differentiation | 1.19e-02 |
| DMPK | GO:0060433 | bronchus development | 1.19e-02 |
| DMPK | GO:0090009 | primitive streak formation | 1.19e-02 |
| DMPK | GO:1900222 | negative regulation of amyloid-beta clearance | 1.19e-02 |
| DMPK | GO:0043589 | skin morphogenesis | 1.19e-02 |
| DMPK | GO:0060379 | cardiac muscle cell myoblast differentiation | 1.19e-02 |
| DMPK | GO:0061029 | eyelid development in camera-type eye | 1.19e-02 |
| DMPK | GO:0045059 | positive thymic T cell selection | 1.19e-02 |
| DMPK | GO:0060347 | heart trabecula formation | 1.19e-02 |
| DMPK | GO:0090136 | epithelial cell-cell adhesion | 1.19e-02 |
| DMPK | GO:0010002 | cardioblast differentiation | 1.19e-02 |
| DMPK | GO:0001829 | trophectodermal cell differentiation | 1.19e-02 |
| DMPK | GO:0055003 | cardiac myofibril assembly | 1.19e-02 |
| DMPK | GO:0060438 | trachea development | 1.19e-02 |
| DMPK | GO:1900221 | regulation of amyloid-beta clearance | 1.19e-02 |
| DMPK | GO:0030220 | platelet formation | 1.19e-02 |
| DMPK | GO:0035855 | megakaryocyte development | 1.19e-02 |
| DMPK | GO:0045061 | thymic T cell selection | 1.19e-02 |
| DMPK | GO:0036344 | platelet morphogenesis | 1.19e-02 |
| DMPK | GO:0046716 | muscle cell cellular homeostasis | 1.19e-02 |
| DMPK | GO:1902894 | negative regulation of miRNA transcription | 1.19e-02 |
| DMPK | GO:0060343 | trabecula formation | 1.19e-02 |
| DMPK | GO:2000629 | negative regulation of miRNA metabolic process | 1.19e-02 |
| DMPK | GO:0048745 | smooth muscle tissue development | 1.19e-02 |
| DMPK | GO:0001702 | gastrulation with mouth forming second | 1.19e-02 |
| DMPK | GO:0045987 | positive regulation of smooth muscle contraction | 1.19e-02 |
| DMPK | GO:0030878 | thyroid gland development | 1.19e-02 |
| DMPK | GO:0051491 | positive regulation of filopodium assembly | 1.19e-02 |
| DMPK | GO:0060055 | angiogenesis involved in wound healing | 1.19e-02 |
| DMPK | GO:0060292 | long-term synaptic depression | 1.19e-02 |
| DMPK | GO:0061384 | heart trabecula morphogenesis | 1.19e-02 |
| DMPK | GO:0061436 | establishment of skin barrier | 1.19e-02 |
| DMPK | GO:0010669 | epithelial structure maintenance | 1.19e-02 |
| DMPK | GO:0021772 | olfactory bulb development | 1.19e-02 |
| DMPK | GO:0001569 | branching involved in blood vessel morphogenesis | 1.19e-02 |
| DMPK | GO:0060218 | hematopoietic stem cell differentiation | 1.19e-02 |
| DMPK | GO:0021988 | olfactory lobe development | 1.19e-02 |
| DMPK | GO:0045773 | positive regulation of axon extension | 1.19e-02 |
| DMPK | GO:0007616 | long-term memory | 1.19e-02 |
| DMPK | GO:0035909 | aorta morphogenesis | 1.19e-02 |
| DMPK | GO:0097242 | amyloid-beta clearance | 1.19e-02 |
| DMPK | GO:0035886 | vascular associated smooth muscle cell differentiation | 1.19e-02 |
| DMPK | GO:0043368 | positive T cell selection | 1.19e-02 |
| DMPK | GO:0048821 | erythrocyte development | 1.19e-02 |
| DMPK | GO:0001825 | blastocyst formation | 1.24e-02 |
| DMPK | GO:0045214 | sarcomere organization | 1.24e-02 |
| DMPK | GO:0051150 | regulation of smooth muscle cell differentiation | 1.24e-02 |
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Related Drugs to DMPK_RCN3 |
| 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 DMPK-RCN3 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 DMPK_RCN3 |
| 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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