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Kinase Fusion Gene:AQP1_TYK2 |
Kinase Fusion Protein Summary |
 Kinase Fusion gene summary |
| Kinase Fusion partner gene information | Kinase Fusion gene name: AQP1_TYK2 | KinaseFusionDB ID: KFG400 | FusionGDB2.0 ID: KFG400 | Hgene | Tgene | Gene symbol | AQP1 | TYK2 | Gene ID | 84182 | 7297 | |
| Gene name | tyrosine kinase 2 | |||||||||||
| Synonyms | IMD35|JTK1 | |||||||||||
| Cytomap | 19p13.2 | |||||||||||
| Type of gene | protein-coding | |||||||||||
| Description | non-receptor tyrosine-protein kinase TYK2 | |||||||||||
| Modification date | 20240411 | |||||||||||
| UniProtAcc | P29972 | P29597 | ||||||||||
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000311813, ENST00000441328, ENST00000409611, ENST00000409899, ENST00000434909, ENST00000482461, ENST00000509504, | ENST00000264818, ENST00000524462, ENST00000525621, ENST00000529370, ENST00000529422, | |||||||||
| Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: AQP1 [Title/Abstract] AND TYK2 [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | AQP1(30965131)-TYK2(10491352), # 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 | TYK2 | GO:0007259 | cell surface receptor signaling pathway via JAK-STAT | 7526154|7657660|8232552|8605876 |
| Tgene | TYK2 | GO:0032729 | positive regulation of type II interferon production | 12023369|19088061 |
| Tgene | TYK2 | GO:0032819 | positive regulation of natural killer cell proliferation | 19088061 |
| Tgene | TYK2 | GO:0035722 | interleukin-12-mediated signaling pathway | 7528775 |
| Tgene | TYK2 | GO:0042102 | positive regulation of T cell proliferation | 11114383 |
| Tgene | TYK2 | GO:0046427 | positive regulation of receptor signaling pathway via JAK-STAT | 7638186|12023369 |
| Tgene | TYK2 | GO:0051142 | positive regulation of NK T cell proliferation | 19088061 |
| Tgene | TYK2 | GO:0060333 | type II interferon-mediated signaling pathway | 8232552 |
| Tgene | TYK2 | GO:0060337 | type I interferon-mediated signaling pathway | 8232552 |
| Tgene | TYK2 | GO:1900182 | positive regulation of protein localization to nucleus | 8605876|26479788 |
| Kinase Fusion gene breakpoints across AQP1 (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 TYK2 (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-A2-A3XY-01A | AQP1 | chr7 | 30965131 | TYK2 | chr19 | 10491352 |
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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/:30965131/:10491352) - 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 |
| AQP1 | TYK2 |
| FUNCTION: Forms a water-specific channel that provides the plasma membranes of red cells and kidney proximal tubules with high permeability to water, thereby permitting water to move in the direction of an osmotic gradient (PubMed:1373524). Component of the ankyrin-1 complex, a multiprotein complex involved in the stability and shape of the erythrocyte membrane (PubMed:35835865). {ECO:0000269|PubMed:1373524, ECO:0000269|PubMed:35835865}. | FUNCTION: Tyrosine kinase of the non-receptor type involved in numerous cytokines and interferons signaling, which regulates cell growth, development, cell migration, innate and adaptive immunity (PubMed:8232552, PubMed:7813427, PubMed:7657660, PubMed:10995743, PubMed:10542297). Plays both structural and catalytic roles in numerous interleukins and interferons (IFN-alpha/beta) signaling (PubMed:10542297). Associates with heterodimeric cytokine receptor complexes and activates STAT family members including STAT1, STAT3, STAT4 or STAT6 (PubMed:10542297, PubMed:7638186). The heterodimeric cytokine receptor complexes are composed of (1) a TYK2-associated receptor chain (IFNAR1, IL12RB1, IL10RB or IL13RA1), and (2) a second receptor chain associated either with JAK1 or JAK2 (PubMed:7813427, PubMed:10542297, PubMed:7526154, PubMed:25762719). In response to cytokine-binding to receptors, phosphorylates and activates receptors (IFNAR1, IL12RB1, IL10RB or IL13RA1), creating docking sites for STAT members (PubMed:7526154, PubMed:7657660). In turn, recruited STATs are phosphorylated by TYK2 (or JAK1/JAK2 on the second receptor chain), form homo- and heterodimers, translocate to the nucleus, and regulate cytokine/growth factor responsive genes (PubMed:7657660, PubMed:10542297, PubMed:25762719). Negatively regulates STAT3 activity by promototing phosphorylation at a specific tyrosine that differs from the site used for signaling (PubMed:29162862). {ECO:0000269|PubMed:10542297, ECO:0000269|PubMed:10995743, ECO:0000269|PubMed:25762719, ECO:0000269|PubMed:29162862, ECO:0000269|PubMed:7526154, ECO:0000269|PubMed:7638186, ECO:0000269|PubMed:7657660, ECO:0000269|PubMed:7813427, ECO:0000269|PubMed:8232552}. |
| 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 AQP1_TYK2 |
| 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 |
| TYK2 | P29597 | human | TYK2 | P29597 | Y292 | QAEGEPCyIRDSGVA | Jak1_Phl |
| TYK2 | P29597 | human | TYK2 | P29597 | Y1054 | AVPEGHEyyRVREDG | PK_Tyr_Ser-Thr |
| TYK2 | P29597 | human | TYK2 | P29597 | Y1055 | VPEGHEyyRVREDGD | PK_Tyr_Ser-Thr |
| TYK2 | P29597 | human | SIVA1 | O15304 | Y53 | LFLGAQAyLDHVWDE | Siva |
| TYK2 | P29597 | human | IFNAR1 | P17181 | Y466 | VFLRCINyVFFPSLK | |
| TYK2 | P29597 | human | RACK1 | P63244 | Y194 | NHIGHtGyLNTVTVS | WD40 |
| TYK2 | P29597 | human | IFNAR1 | P17181 | Y481 | PSSSIDEyFSEQPLK | |
| TYK2 | P29597 | human | SIVA1 | O15304 | Y162 | LVDCSDMyEKVLCTS | Siva |
| TYK2 | P29597 | human | STAT3 | P40763 | Y640 | QIQsVEPytkQQLNN | SH2 |
| TYK2 | P29597 | human | STAT1 | P42224 | Y701 | DGPkGtGyIktELIs |
| 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 |
| TYK2 | ID | Description | 0.00e+00 |
| TYK2 | GO:0007259 | receptor signaling pathway via JAK-STAT | 3.62e-05 |
| TYK2 | GO:0097696 | receptor signaling pathway via STAT | 3.62e-05 |
| TYK2 | GO:0060337 | type I interferon-mediated signaling pathway | 2.06e-04 |
| TYK2 | GO:0071357 | cellular response to type I interferon | 2.06e-04 |
| TYK2 | GO:0034340 | response to type I interferon | 2.06e-04 |
| TYK2 | GO:0140888 | interferon-mediated signaling pathway | 2.78e-04 |
| TYK2 | GO:0060397 | growth hormone receptor signaling pathway via JAK-STAT | 2.78e-04 |
| TYK2 | GO:0060396 | growth hormone receptor signaling pathway | 1.38e-03 |
| TYK2 | GO:0060333 | type II interferon-mediated signaling pathway | 1.38e-03 |
| TYK2 | GO:0071378 | cellular response to growth hormone stimulus | 1.38e-03 |
| TYK2 | GO:0035458 | cellular response to interferon-beta | 1.38e-03 |
| TYK2 | GO:0045648 | positive regulation of erythrocyte differentiation | 1.86e-03 |
| TYK2 | GO:0035456 | response to interferon-beta | 1.86e-03 |
| TYK2 | GO:0060416 | response to growth hormone | 2.16e-03 |
| TYK2 | GO:0071375 | cellular response to peptide hormone stimulus | 2.74e-03 |
| TYK2 | GO:0045646 | regulation of erythrocyte differentiation | 2.74e-03 |
| TYK2 | GO:0072538 | T-helper 17 type immune response | 2.74e-03 |
| TYK2 | GO:1901653 | cellular response to peptide | 4.22e-03 |
| TYK2 | GO:0043434 | response to peptide hormone | 5.98e-03 |
| TYK2 | GO:0009615 | response to virus | 5.98e-03 |
| TYK2 | GO:0098586 | cellular response to virus | 7.80e-03 |
| TYK2 | GO:0001819 | positive regulation of cytokine production | 8.09e-03 |
| TYK2 | GO:0045639 | positive regulation of myeloid cell differentiation | 9.75e-03 |
| TYK2 | GO:0046425 | regulation of receptor signaling pathway via JAK-STAT | 9.90e-03 |
| TYK2 | GO:1904892 | regulation of receptor signaling pathway via STAT | 1.17e-02 |
| TYK2 | GO:0071346 | cellular response to type II interferon | 1.17e-02 |
| TYK2 | GO:0030218 | erythrocyte differentiation | 1.34e-02 |
| TYK2 | GO:0043467 | regulation of generation of precursor metabolites and energy | 1.42e-02 |
| TYK2 | GO:0034101 | erythrocyte homeostasis | 1.42e-02 |
| TYK2 | GO:0034341 | response to type II interferon | 1.44e-02 |
| TYK2 | GO:0010950 | positive regulation of endopeptidase activity | 1.65e-02 |
| TYK2 | GO:0010952 | positive regulation of peptidase activity | 1.90e-02 |
| TYK2 | GO:0002262 | myeloid cell homeostasis | 1.91e-02 |
| TYK2 | GO:0001936 | regulation of endothelial cell proliferation | 1.97e-02 |
| TYK2 | GO:0046631 | alpha-beta T cell activation | 1.97e-02 |
| TYK2 | GO:0001935 | endothelial cell proliferation | 2.37e-02 |
| TYK2 | GO:0000302 | response to reactive oxygen species | 2.38e-02 |
| TYK2 | GO:0045637 | regulation of myeloid cell differentiation | 2.50e-02 |
| TYK2 | GO:0042593 | glucose homeostasis | 2.83e-02 |
| TYK2 | GO:0033500 | carbohydrate homeostasis | 2.83e-02 |
| TYK2 | GO:0032819 | positive regulation of natural killer cell proliferation | 2.83e-02 |
| TYK2 | GO:0033210 | leptin-mediated signaling pathway | 2.83e-02 |
| TYK2 | GO:0072203 | cell proliferation involved in metanephros development | 2.83e-02 |
| TYK2 | GO:1903799 | negative regulation of miRNA processing | 2.83e-02 |
| TYK2 | GO:1905050 | positive regulation of metallopeptidase activity | 2.83e-02 |
| TYK2 | GO:0052548 | regulation of endopeptidase activity | 2.83e-02 |
| TYK2 | GO:0043491 | phosphatidylinositol 3-kinase/protein kinase B signal transduction | 2.83e-02 |
| TYK2 | GO:0003337 | mesenchymal to epithelial transition involved in metanephros morphogenesis | 2.83e-02 |
| TYK2 | GO:0035723 | interleukin-15-mediated signaling pathway | 2.83e-02 |
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Related Drugs to AQP1_TYK2 |
| 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 AQP1-TYK2 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 AQP1_TYK2 |
| 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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