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Kinase Fusion Gene:PLK4_FAM192A |
Kinase Fusion Protein Summary |
 Kinase Fusion gene summary |
| Kinase Fusion partner gene information | Kinase Fusion gene name: PLK4_FAM192A | KinaseFusionDB ID: KFG4751 | FusionGDB2.0 ID: KFG4751 | Hgene | Tgene | Gene symbol | PLK4 | FAM192A | Gene ID | 10733 | 80011 | |
| Gene name | polo like kinase 4 | proteasome activator subunit 3 interacting protein 1 | ||||||||||
| Synonyms | MCCRP2|SAK|STK18 | C16orf94|CDA018|CDA10|FAM192A|NIP30|PIP30 | ||||||||||
| Cytomap | 4q28.1 | 16q13 | ||||||||||
| Type of gene | protein-coding | protein-coding | ||||||||||
| Description | serine/threonine-protein kinase PLK4Snk akin kinaseserine/threonine-protein kinase 18serine/threonine-protein kinase Sak | PSME3-interacting proteinNEFA-interacting nuclear protein NIP30PA28G interacting protein 30kDaPA28G-interacting proteinPSME3 interacting protein 30kDafamily with sequence similarity 192 member Aprotein FAM192A | ||||||||||
| Modification date | 20240411 | 20240305 | ||||||||||
| UniProtAcc | O00444 | Q9GZU8 | ||||||||||
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000511942, ENST00000270861, ENST00000507249, ENST00000513090, ENST00000514379, ENST00000515069, | ENST00000309137, ENST00000389447, ENST00000564108, ENST00000567439, ENST00000569266, ENST00000562400, ENST00000566077, | |||||||||
| Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: PLK4 [Title/Abstract] AND FAM192A [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | PLK4(128803081)-FAM192A(57207781), # 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 | PLK4 | GO:0006468 | protein phosphorylation | 27796307|30804208 |
| Hgene | PLK4 | GO:0007099 | centriole replication | 21059844 |
| Hgene | PLK4 | GO:0046601 | positive regulation of centriole replication | 22349705 |
| Hgene | PLK4 | GO:0046601 | positive regulation of centriole replication | 27796307 |
| Kinase Fusion gene breakpoints across PLK4 (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 FAM192A (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-HU-A4H8 | PLK4 | chr4 | 128803081 | FAM192A | chr16 | 57207781 |
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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/:128803081/:57207781) - 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 |
| PLK4 | FAM192A |
| FUNCTION: Serine/threonine-protein kinase that plays a central role in centriole duplication. Able to trigger procentriole formation on the surface of the parental centriole cylinder, leading to the recruitment of centriole biogenesis proteins such as SASS6, CENPJ/CPAP, CCP110, CEP135 and gamma-tubulin. When overexpressed, it is able to induce centrosome amplification through the simultaneous generation of multiple procentrioles adjoining each parental centriole during S phase. Phosphorylates 'Ser-151' of FBXW5 during the G1/S transition, leading to inhibit FBXW5 ability to ubiquitinate SASS6. Its central role in centriole replication suggests a possible role in tumorigenesis, centrosome aberrations being frequently observed in tumors. Also involved in deuterosome-mediated centriole amplification in multiciliated that can generate more than 100 centrioles. Also involved in trophoblast differentiation by phosphorylating HAND1, leading to disrupt the interaction between HAND1 and MDFIC and activate HAND1. Phosphorylates CDC25C and CHEK2. Required for the recruitment of STIL to the centriole and for STIL-mediated centriole amplification (PubMed:22020124). Phosphorylates CEP131 at 'Ser-78' and PCM1 at 'Ser-372' which is essential for proper organization and integrity of centriolar satellites (PubMed:30804208). {ECO:0000269|PubMed:16244668, ECO:0000269|PubMed:16326102, ECO:0000269|PubMed:17681131, ECO:0000269|PubMed:18239451, ECO:0000269|PubMed:19164942, ECO:0000269|PubMed:21725316, ECO:0000269|PubMed:22020124, ECO:0000269|PubMed:27796307, ECO:0000269|PubMed:30804208}. | FUNCTION: Promotes the association of the proteasome activator complex subunit PSME3 with the 20S proteasome and regulates its activity. Inhibits PSME3-mediated degradation of some proteasome substrates, probably by affecting their diffusion rate into the catalytic chamber of the proteasome. Also inhibits the interaction of PSME3 with COIL, inhibits accumulation of PSME3 in Cajal bodies and positively regulates the number of Cajal bodies in the nucleus. {ECO:0000269|PubMed:29934401}. |
| 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 PLK4_FAM192A |
| 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 |
| PLK4 | O00444 | human | NEDD1 | Q8NHV4 | S338 | AsGGVQNsGIVREAP | |
| PLK4 | O00444 | human | PLK4 | O00444 | T170 | MPHEkHYtLCGtPNy | Pkinase |
| PLK4 | O00444 | human | PLK4 | O00444 | S305 | sstsIsGsLFDKRRL | |
| PLK4 | O00444 | human | CENPJ | Q9HC77 | S595 | IsFSSNSsFVLKILE | |
| PLK4 | O00444 | human | NEDD1 | Q8NHV4 | S404 | sFDDtGKssLGDMFs | |
| PLK4 | O00444 | human | CEP131 | Q9UPN4 | S78 | NNLRRsNsttQVSQP | |
| PLK4 | O00444 | human | STIL | Q15468 | S428 | QPSVPELsLVLDGNF | STIL_N |
| PLK4 | O00444 | human | NEDD1 | Q8NHV4 | S325 | PTTVNKRsVNVNAAs | |
| PLK4 | O00444 | human | PCM1 | Q15154 | S372 | RRQAEsLsLtREVsQ | |
| PLK4 | O00444 | human | NEDD1 | Q8NHV4 | T23 | IWDASSMtLVDKFNP | WD40 |
| PLK4 | O00444 | human | NEDD1 | Q8NHV4 | T303 | CIAFQYStVLTKSSL | |
| PLK4 | O00444 | human | PLK4 | O00444 | S22 | GNLLGKGsFAGVYRA | Pkinase |
| PLK4 | O00444 | human | ACTR2 | P61160 | T238 | QKLALEttVLVESYT | Actin |
| PLK4 | O00444 | human | PLK4 | O00444 | Y177 | tLCGtPNyISPEIAT | Pkinase |
| PLK4 | O00444 | human | CEP131 | Q9UPN4 | T205 | PLkSSNQtAPsLNNI | |
| PLK4 | O00444 | human | NEDD1 | Q8NHV4 | S568 | AGVAssLsEkIADsI | |
| PLK4 | O00444 | human | FBXW5 | Q969U6 | S151 | SQFNKDDsLLLASGV | |
| PLK4 | O00444 | human | NEK7 | Q8TDX7 | S204 | VGtPyyMsPERIHEN | Pkinase |
| PLK4 | O00444 | human | ACTR2 | P61160 | T237 | EQKLALEttVLVESY | Actin |
| PLK4 | O00444 | human | PPP1R16B | Q96T49 | S69 | KKVSFEAsVALLEAS | |
| PLK4 | O00444 | human | STIL | Q15468 | S1116 | LIsPNNMsFAtkKYM | |
| PLK4 | O00444 | human | CCP110 | O43303 | S98 | VRKAPNAsDFDQWEM | CaM_bind |
| PLK4 | O00444 | human | CEP131 | Q9UPN4 | S21 | sPAGVDLsLTGLPPP |
| 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 |
| PLK4 | ID | Description | 0.00e+00 |
| PLK4 | GO:0007098 | centrosome cycle | 8.90e-11 |
| PLK4 | GO:0031023 | microtubule organizing center organization | 9.72e-11 |
| PLK4 | GO:0051298 | centrosome duplication | 1.40e-10 |
| PLK4 | GO:0010824 | regulation of centrosome duplication | 2.53e-09 |
| PLK4 | GO:0046605 | regulation of centrosome cycle | 4.17e-09 |
| PLK4 | GO:0007099 | centriole replication | 3.66e-07 |
| PLK4 | GO:0098534 | centriole assembly | 4.94e-07 |
| PLK4 | GO:0060271 | cilium assembly | 9.49e-07 |
| PLK4 | GO:0044782 | cilium organization | 1.31e-06 |
| PLK4 | GO:1902117 | positive regulation of organelle assembly | 3.23e-06 |
| PLK4 | GO:0032886 | regulation of microtubule-based process | 5.20e-06 |
| PLK4 | GO:0046599 | regulation of centriole replication | 6.22e-06 |
| PLK4 | GO:0071539 | protein localization to centrosome | 1.93e-05 |
| PLK4 | GO:1905508 | protein localization to microtubule organizing center | 1.96e-05 |
| PLK4 | GO:0140694 | non-membrane-bounded organelle assembly | 3.67e-05 |
| PLK4 | GO:0072698 | protein localization to microtubule cytoskeleton | 6.73e-05 |
| PLK4 | GO:0120032 | regulation of plasma membrane bounded cell projection assembly | 6.73e-05 |
| PLK4 | GO:0060491 | regulation of cell projection assembly | 6.73e-05 |
| PLK4 | GO:0044380 | protein localization to cytoskeleton | 7.13e-05 |
| PLK4 | GO:1902115 | regulation of organelle assembly | 7.73e-05 |
| PLK4 | GO:1905515 | non-motile cilium assembly | 8.66e-05 |
| PLK4 | GO:0120034 | positive regulation of plasma membrane bounded cell projection assembly | 4.02e-04 |
| PLK4 | GO:0051225 | spindle assembly | 6.79e-04 |
| PLK4 | GO:0007059 | chromosome segregation | 8.78e-04 |
| PLK4 | GO:0045724 | positive regulation of cilium assembly | 1.33e-03 |
| PLK4 | GO:0051495 | positive regulation of cytoskeleton organization | 1.57e-03 |
| PLK4 | GO:0090169 | regulation of spindle assembly | 1.62e-03 |
| PLK4 | GO:0007051 | spindle organization | 1.93e-03 |
| PLK4 | GO:0060236 | regulation of mitotic spindle organization | 2.61e-03 |
| PLK4 | GO:0007020 | microtubule nucleation | 2.90e-03 |
| PLK4 | GO:0090224 | regulation of spindle organization | 2.93e-03 |
| PLK4 | GO:0042073 | intraciliary transport | 3.22e-03 |
| PLK4 | GO:0090068 | positive regulation of cell cycle process | 3.42e-03 |
| PLK4 | GO:1900087 | positive regulation of G1/S transition of mitotic cell cycle | 3.42e-03 |
| PLK4 | GO:0031122 | cytoplasmic microtubule organization | 4.27e-03 |
| PLK4 | GO:1902808 | positive regulation of cell cycle G1/S phase transition | 5.04e-03 |
| PLK4 | GO:0044458 | motile cilium assembly | 5.05e-03 |
| PLK4 | GO:1904951 | positive regulation of establishment of protein localization | 5.55e-03 |
| PLK4 | GO:1902017 | regulation of cilium assembly | 5.55e-03 |
| PLK4 | GO:0045787 | positive regulation of cell cycle | 5.88e-03 |
| PLK4 | GO:0031346 | positive regulation of cell projection organization | 6.84e-03 |
| PLK4 | GO:0046785 | microtubule polymerization | 8.99e-03 |
| PLK4 | GO:1901992 | positive regulation of mitotic cell cycle phase transition | 9.54e-03 |
| PLK4 | GO:0007018 | microtubule-based movement | 1.04e-02 |
| PLK4 | GO:1901989 | positive regulation of cell cycle phase transition | 1.34e-02 |
| PLK4 | GO:1903829 | positive regulation of protein localization | 1.42e-02 |
| PLK4 | GO:0045931 | positive regulation of mitotic cell cycle | 1.48e-02 |
| PLK4 | GO:0007052 | mitotic spindle organization | 1.49e-02 |
| PLK4 | GO:0031109 | microtubule polymerization or depolymerization | 1.55e-02 |
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Related Drugs to PLK4_FAM192A |
| 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 PLK4-FAM192A 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 PLK4_FAM192A |
| 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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