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Kinase Fusion Gene:C18orf8_RIOK3 |
Kinase Fusion Protein Summary |
 Kinase Fusion gene summary |
| Kinase Fusion partner gene information | Kinase Fusion gene name: C18orf8_RIOK3 | KinaseFusionDB ID: KFG793 | FusionGDB2.0 ID: KFG793 | Hgene | Tgene | Gene symbol | C18orf8 | RIOK3 | Gene ID | 29919 | 8780 | |
| Gene name | regulator of MON1-CCZ1 | RIO kinase 3 | ||||||||||
| Synonyms | C18orf8|HsT2591|MIC1|Mic-1|WDR98 | SUDD | ||||||||||
| Cytomap | 18q11.2 | 18q11.2 | ||||||||||
| Type of gene | protein-coding | protein-coding | ||||||||||
| Description | regulator of MON1-CCZ1 complexWD repeat domain 98WD repeat-containing protein 98colon cancer-associated protein Mic1macrophage inhibitory cytokine 1uncharacterized protein C18orf8 | serine/threonine-protein kinase RIO3homolog of the Aspergillus nidulans sudD gene productsudD (suppressor of bimD6, Aspergillus nidulans) homologsudD homologsudD suppressor of Aspergillus nidulans bimD6 homologsudD suppressor of bimD6 homologtesticu | ||||||||||
| Modification date | 20240403 | 20240403 | ||||||||||
| UniProtAcc | Q96DM3 | O14730 | ||||||||||
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000269221, ENST00000590868, ENST00000591367, | ENST00000339486, ENST00000577501, ENST00000581585, | |||||||||
| Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: C18orf8 [Title/Abstract] AND RIOK3 [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | C18orf8(21089243)-RIOK3(21061136), # samples:1 RIOK3(21043043)-C18orf8(21111589), # 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 | RIOK3 | GO:0031333 | negative regulation of protein-containing complex assembly | 25865883 |
| Tgene | RIOK3 | GO:0043124 | negative regulation of canonical NF-kappaB signal transduction | 19557502 |
| Kinase Fusion gene breakpoints across C18orf8 (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 RIOK3 (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-VS-A9UB-01A | C18orf8 | chr18 | 21089243 | RIOK3 | chr18 | 21061136 |
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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/:21089243/:21061136) - 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 |
| C18orf8 | RIOK3 |
| FUNCTION: Componement of the CCZ1-MON1 RAB7A guanine exchange factor (GEF). Acts as a positive regulator of CCZ1-MON1A/B function necessary for endosomal/autophagic flux and efficient RAB7A localization (PubMed:29038162). {ECO:0000269|PubMed:29038162}. | FUNCTION: Involved in regulation of type I interferon (IFN)-dependent immune response which plays a critical role in the innate immune response against DNA and RNA viruses. May act as an adapter protein essential for the recruitment of TBK1 to IRF3 (PubMed:24807708). Phosphorylates IFIH1 on 'Ser-828' interfering with IFIH1 filament assembly on long dsRNA and resulting in attenuated IFIH1-signaling (PubMed:25865883). Can inhibit CASP10 isoform 7-mediated activation of the NF-kappaB signaling pathway (PubMed:19557502). May play a role in the biogenesis of the 40S ribosomal subunit. Involved in the processing of 21S pre-rRNA to the mature 18S rRNA (PubMed:22418843). {ECO:0000269|PubMed:19557502, ECO:0000269|PubMed:22418843, ECO:0000269|PubMed:24807708, ECO:0000269|PubMed:25865883}. |
| 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 C18orf8_RIOK3 |
| 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 |
| RIOK3 | O14730 | human | IFIH1 | Q9BYX4 | S828 | GRARADEsTYVLVAH |
| 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 |
| RIOK3 | ID | Description | 0.00e+00 |
| RIOK3 | GO:0039530 | MDA-5 signaling pathway | 1.28e-02 |
| RIOK3 | GO:0071360 | cellular response to exogenous dsRNA | 1.28e-02 |
| RIOK3 | GO:0071359 | cellular response to dsRNA | 1.28e-02 |
| RIOK3 | GO:0032727 | positive regulation of interferon-alpha production | 1.28e-02 |
| RIOK3 | GO:0032607 | interferon-alpha production | 1.28e-02 |
| RIOK3 | GO:0032647 | regulation of interferon-alpha production | 1.28e-02 |
| RIOK3 | GO:0032728 | positive regulation of interferon-beta production | 1.28e-02 |
| RIOK3 | GO:0140374 | antiviral innate immune response | 1.28e-02 |
| RIOK3 | GO:0043330 | response to exogenous dsRNA | 1.28e-02 |
| RIOK3 | GO:0045071 | negative regulation of viral genome replication | 1.28e-02 |
| RIOK3 | GO:0043331 | response to dsRNA | 1.28e-02 |
| RIOK3 | GO:0032608 | interferon-beta production | 1.28e-02 |
| RIOK3 | GO:0032648 | regulation of interferon-beta production | 1.28e-02 |
| RIOK3 | GO:0060760 | positive regulation of response to cytokine stimulus | 1.28e-02 |
| RIOK3 | GO:0016925 | protein sumoylation | 1.28e-02 |
| RIOK3 | GO:0032481 | positive regulation of type I interferon production | 1.28e-02 |
| RIOK3 | GO:0060337 | type I interferon-mediated signaling pathway | 1.28e-02 |
| RIOK3 | GO:0071357 | cellular response to type I interferon | 1.28e-02 |
| RIOK3 | GO:0045069 | regulation of viral genome replication | 1.28e-02 |
| RIOK3 | GO:0098586 | cellular response to virus | 1.28e-02 |
| RIOK3 | GO:0034340 | response to type I interferon | 1.28e-02 |
| RIOK3 | GO:0048525 | negative regulation of viral process | 1.28e-02 |
| RIOK3 | GO:0032755 | positive regulation of interleukin-6 production | 1.28e-02 |
| RIOK3 | GO:0032760 | positive regulation of tumor necrosis factor production | 1.28e-02 |
| RIOK3 | GO:0140888 | interferon-mediated signaling pathway | 1.28e-02 |
| RIOK3 | GO:1903557 | positive regulation of tumor necrosis factor superfamily cytokine production | 1.28e-02 |
| RIOK3 | GO:0032479 | regulation of type I interferon production | 1.33e-02 |
| RIOK3 | GO:0032606 | type I interferon production | 1.33e-02 |
| RIOK3 | GO:0019079 | viral genome replication | 1.36e-02 |
| RIOK3 | GO:1903900 | regulation of viral life cycle | 1.42e-02 |
| RIOK3 | GO:0002753 | cytosolic pattern recognition receptor signaling pathway | 1.42e-02 |
| RIOK3 | GO:0050792 | regulation of viral process | 1.48e-02 |
| RIOK3 | GO:0032635 | interleukin-6 production | 1.48e-02 |
| RIOK3 | GO:0032675 | regulation of interleukin-6 production | 1.48e-02 |
| RIOK3 | GO:0060759 | regulation of response to cytokine stimulus | 1.48e-02 |
| RIOK3 | GO:0032640 | tumor necrosis factor production | 1.48e-02 |
| RIOK3 | GO:0032680 | regulation of tumor necrosis factor production | 1.48e-02 |
| RIOK3 | GO:0071706 | tumor necrosis factor superfamily cytokine production | 1.48e-02 |
| RIOK3 | GO:1903555 | regulation of tumor necrosis factor superfamily cytokine production | 1.48e-02 |
| RIOK3 | GO:0018205 | peptidyl-lysine modification | 1.65e-02 |
| RIOK3 | GO:0002221 | pattern recognition receptor signaling pathway | 1.74e-02 |
| RIOK3 | GO:0002758 | innate immune response-activating signaling pathway | 1.79e-02 |
| RIOK3 | GO:0051259 | protein complex oligomerization | 1.79e-02 |
| RIOK3 | GO:0002218 | activation of innate immune response | 1.89e-02 |
| RIOK3 | GO:0019058 | viral life cycle | 2.15e-02 |
| RIOK3 | GO:0051607 | defense response to virus | 2.15e-02 |
| RIOK3 | GO:0140546 | defense response to symbiont | 2.15e-02 |
| RIOK3 | GO:0045089 | positive regulation of innate immune response | 2.16e-02 |
| RIOK3 | GO:0030522 | intracellular receptor signaling pathway | 2.18e-02 |
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Related Drugs to C18orf8_RIOK3 |
| 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 C18orf8-RIOK3 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 C18orf8_RIOK3 |
| 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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