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Kinase Fusion Gene:UHMK1_KCNS3 |
Kinase Fusion Protein Summary |
 Kinase Fusion gene summary |
| Kinase Fusion partner gene information | Kinase Fusion gene name: UHMK1_KCNS3 | KinaseFusionDB ID: KFG6979 | FusionGDB2.0 ID: KFG6979 | Hgene | Tgene | Gene symbol | UHMK1 | KCNS3 | Gene ID | 127933 | 3790 | |
| Gene name | U2AF homology motif kinase 1 | potassium voltage-gated channel modifier subfamily S member 3 | ||||||||||
| Synonyms | KIS|KIST|P-CIP2 | KV9.3 | ||||||||||
| Cytomap | 1q23.3 | 2p24.2 | ||||||||||
| Type of gene | protein-coding | protein-coding | ||||||||||
| Description | serine/threonine-protein kinase KistKIS protein kinasePAM COOH-terminal interactor protein 2U2AF homology motif (UHM) kinase 1kinase interacting with leukemia-associated gene (stathmin) | potassium voltage-gated channel subfamily S member 3Shab-related delayed-rectifier K+ channel alpha subunit 3delayed-rectifier K(+) channel alpha subunit 3potassium voltage-gated channel delayed-rectifier protein S3potassium voltage-gated channel, del | ||||||||||
| Modification date | 20240305 | 20240411 | ||||||||||
| UniProtAcc | Q8TAS1 | Q9BQ31 | ||||||||||
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000282169, ENST00000489294, ENST00000538489, ENST00000545294, | ENST00000304101, ENST00000403915, ENST00000465292, | |||||||||
| Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: UHMK1 [Title/Abstract] AND KCNS3 [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | UHMK1(162473637)-KCNS3(18101165), # 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 |
| Hgene | UHMK1 | GO:0018105 | peptidyl-serine phosphorylation | 12093740 |
| Hgene | UHMK1 | GO:0046777 | protein autophosphorylation | 12093740 |
| Hgene | UHMK1 | GO:0046825 | regulation of protein export from nucleus | 12093740 |
| Kinase Fusion gene breakpoints across UHMK1 (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 KCNS3 (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-OR-A5LL-01A | UHMK1 | chr1 | 162473637 | KCNS3 | chr2 | 18101165 |
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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/:162473637/:18101165) - 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 |
| UHMK1 | KCNS3 |
| FUNCTION: Upon serum stimulation, phosphorylates CDKN1B/p27Kip1, thus controlling CDKN1B subcellular location and cell cycle progression in G1 phase. May be involved in trafficking and/or processing of RNA (By similarity). {ECO:0000250}. | FUNCTION: Potassium channel subunit that does not form functional channels by itself. Can form functional heterotetrameric channels with KCNB1; modulates the delayed rectifier voltage-gated potassium channel activation and deactivation rates of KCNB1 (PubMed:10484328). Heterotetrameric channel activity formed with KCNB1 show increased current amplitude with the threshold for action potential activation shifted towards more negative values in hypoxic-treated pulmonary artery smooth muscle cells (By similarity). {ECO:0000250|UniProtKB:O88759, ECO:0000269|PubMed:10484328}. |
| 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 UHMK1_KCNS3 |
| 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 |
| UHMK1 | Q8TAS1 | human | PIMREG | Q9BSJ6 | S131 | GAQKGsGsPtHsLsQ | RCS1 |
| UHMK1 | Q8TAS1 | human | STMN1 | P16949 | S38 | sVPEFPLsPPkKkDL | Stathmin |
| UHMK1 | Q8TAS1 | human | NCOA3 | Q9Y6Q9 | S1062 | DQLHtLLsNtDAtGL | Nuc_rec_co-act |
| UHMK1 | Q8TAS1 | human | SF1 | Q15637 | S80 | PPNPEDRsPsPEPIy | SF1-HH |
| UHMK1 | Q8TAS1 | human | CDKN1B | P46527 | S10 | NVRVSNGsPsLErMD | |
| UHMK1 | Q8TAS1 | human | NCOA3 | Q9Y6Q9 | T1067 | LLsNtDAtGLEEIDR | Nuc_rec_co-act |
| UHMK1 | Q8TAS1 | human | SF1 | Q15637 | S82 | NPEDRsPsPEPIyNs | SF1-HH |
| 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 |
| UHMK1 | ID | Description | 0.00e+00 |
| UHMK1 | GO:0031113 | regulation of microtubule polymerization | 1.50e-02 |
| UHMK1 | GO:0048662 | negative regulation of smooth muscle cell proliferation | 1.50e-02 |
| UHMK1 | GO:0046785 | microtubule polymerization | 1.50e-02 |
| UHMK1 | GO:0031110 | regulation of microtubule polymerization or depolymerization | 1.50e-02 |
| UHMK1 | GO:0032355 | response to estradiol | 1.69e-02 |
| UHMK1 | GO:0031109 | microtubule polymerization or depolymerization | 1.98e-02 |
| UHMK1 | GO:0070507 | regulation of microtubule cytoskeleton organization | 2.02e-02 |
| UHMK1 | GO:0030856 | regulation of epithelial cell differentiation | 2.02e-02 |
| UHMK1 | GO:0048660 | regulation of smooth muscle cell proliferation | 2.02e-02 |
| UHMK1 | GO:0048659 | smooth muscle cell proliferation | 2.02e-02 |
| UHMK1 | GO:0032271 | regulation of protein polymerization | 2.49e-02 |
| UHMK1 | GO:0033002 | muscle cell proliferation | 2.86e-02 |
| UHMK1 | GO:0032886 | regulation of microtubule-based process | 2.86e-02 |
| UHMK1 | GO:0051258 | protein polymerization | 2.86e-02 |
| UHMK1 | GO:0048608 | reproductive structure development | 2.86e-02 |
| UHMK1 | GO:0061458 | reproductive system development | 2.86e-02 |
| UHMK1 | GO:0060768 | regulation of epithelial cell proliferation involved in prostate gland development | 2.86e-02 |
| UHMK1 | GO:0043588 | skin development | 2.86e-02 |
| UHMK1 | GO:0033327 | Leydig cell differentiation | 2.86e-02 |
| UHMK1 | GO:0060767 | epithelial cell proliferation involved in prostate gland development | 2.86e-02 |
| UHMK1 | GO:1904424 | regulation of GTP binding | 2.86e-02 |
| UHMK1 | GO:0043696 | dedifferentiation | 2.86e-02 |
| UHMK1 | GO:0043697 | cell dedifferentiation | 2.86e-02 |
| UHMK1 | GO:0048012 | hepatocyte growth factor receptor signaling pathway | 2.86e-02 |
| UHMK1 | GO:0071236 | cellular response to antibiotic | 2.86e-02 |
| UHMK1 | GO:2000035 | regulation of stem cell division | 2.86e-02 |
| UHMK1 | GO:0031115 | negative regulation of microtubule polymerization | 2.86e-02 |
| UHMK1 | GO:0070493 | thrombin-activated receptor signaling pathway | 2.86e-02 |
| UHMK1 | GO:0071285 | cellular response to lithium ion | 2.86e-02 |
| UHMK1 | GO:0030238 | male sex determination | 2.97e-02 |
| UHMK1 | GO:0010226 | response to lithium ion | 2.97e-02 |
| UHMK1 | GO:0008544 | epidermis development | 2.97e-02 |
| UHMK1 | GO:1902903 | regulation of supramolecular fiber organization | 2.97e-02 |
| UHMK1 | GO:0030575 | nuclear body organization | 3.00e-02 |
| UHMK1 | GO:0043254 | regulation of protein-containing complex assembly | 3.10e-02 |
| UHMK1 | GO:0006977 | DNA damage respons | 4.76e-03 |
| UHMK1 | GO:0045618 | positive regulation of keratinocyte differentiation | 3.19e-02 |
| UHMK1 | GO:0035024 | negative regulation of Rho protein signal transduction | 3.43e-02 |
| UHMK1 | GO:0007530 | sex determination | 3.50e-02 |
| UHMK1 | GO:0045736 | negative regulation of cyclin-dependent protein serine/threonine kinase activity | 3.64e-02 |
| UHMK1 | GO:1904030 | negative regulation of cyclin-dependent protein kinase activity | 3.64e-02 |
| UHMK1 | GO:0045606 | positive regulation of epidermal cell differentiation | 4.04e-02 |
| UHMK1 | GO:0031571 | mitotic G1 DNA damage checkpoint signaling | 4.04e-02 |
| UHMK1 | GO:0044819 | mitotic G1/S transition checkpoint signaling | 4.04e-02 |
| UHMK1 | GO:0017145 | stem cell division | 4.04e-02 |
| UHMK1 | GO:2000273 | positive regulation of signaling receptor activity | 4.04e-02 |
| UHMK1 | GO:0010458 | exit from mitosis | 4.04e-02 |
| UHMK1 | GO:0031116 | positive regulation of microtubule polymerization | 4.04e-02 |
| UHMK1 | GO:0045684 | positive regulation of epidermis development | 4.04e-02 |
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Related Drugs to UHMK1_KCNS3 |
| 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 UHMK1-KCNS3 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 UHMK1_KCNS3 |
| 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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