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Kinase Fusion Gene:PTMA_RIOK1 |
Kinase Fusion Protein Summary |
 Kinase Fusion gene summary |
| Kinase Fusion partner gene information | Kinase Fusion gene name: PTMA_RIOK1 | KinaseFusionDB ID: KFG5177 | FusionGDB2.0 ID: KFG5177 | Hgene | Tgene | Gene symbol | PTMA | RIOK1 | Gene ID | 5757 | 83732 | |
| Gene name | prothymosin alpha | RIO kinase 1 | ||||||||||
| Synonyms | TMSA | AD034|RIO1|RRP10|bA288G3.1 | ||||||||||
| Cytomap | 2q37.1 | 6p24.3 | ||||||||||
| Type of gene | protein-coding | protein-coding | ||||||||||
| Description | prothymosin alphagene sequence 28prothymosin alpha proteinprothymosin-I+/- | serine/threonine-protein kinase RIO1 | ||||||||||
| Modification date | 20240407 | 20240407 | ||||||||||
| UniProtAcc | P06454 | Q9BRS2 | ||||||||||
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000466801, ENST00000409321, ENST00000409115, ENST00000341369, ENST00000409683, ENST00000410064, | ENST00000379834, | |||||||||
| Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: PTMA [Title/Abstract] AND RIOK1 [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | ||||||||||||
| 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 |
| Kinase Fusion gene breakpoints across PTMA (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 RIOK1 (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 |
| CCLE | SW48 | PTMA | chr2 | 232576698 | RIOK1 | chr6 | 7414522 |
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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/:/:) - 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 |
| PTMA | RIOK1 |
| FUNCTION: Prothymosin alpha may mediate immune function by conferring resistance to certain opportunistic infections. | FUNCTION: Involved in the final steps of cytoplasmic maturation of the 40S ribosomal subunit. Involved in processing of 18S-E pre-rRNA to the mature 18S rRNA. Required for the recycling of NOB1 and PNO1 from the late 40S precursor (PubMed:22072790). The association with the very late 40S subunit intermediate may involve a translation-like checkpoint point cycle preceeding the binding to the 60S ribosomal subunit (By similarity). Despite the protein kinase domain is proposed to act predominantly as an ATPase (By similarity). The catalytic activity regulates its dynamic association with the 40S subunit (By similarity). In addition to its role in ribosomal biogenesis acts as an adapter protein by recruiting NCL/nucleolin the to PRMT5 complex for its symmetrical methylation (PubMed:21081503). {ECO:0000250|UniProtKB:G0S3J5, ECO:0000250|UniProtKB:Q12196, ECO:0000269|PubMed:21081503, ECO:0000269|PubMed:22072790}. |
| 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 PTMA_RIOK1 |
| 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 |
| RIOK1 | Q9BRS2 | human | G3BP2 | Q9UN86 | T226 | EELEEKsttPPPAEP |
| 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 |
| RIOK1 | ID | Description | 0.00e+00 |
| RIOK1 | GO:0042994 | cytoplasmic sequestering of transcription factor | 1.15e-02 |
| RIOK1 | GO:0051220 | cytoplasmic sequestering of protein | 1.15e-02 |
| RIOK1 | GO:0034063 | stress granule assembly | 1.15e-02 |
| RIOK1 | GO:1902117 | positive regulation of organelle assembly | 1.67e-02 |
| RIOK1 | GO:0032088 | negative regulation of NF-kappaB transcription factor activity | 1.67e-02 |
| RIOK1 | GO:0045185 | maintenance of protein location | 1.67e-02 |
| RIOK1 | GO:0051028 | mRNA transport | 1.67e-02 |
| RIOK1 | GO:0050657 | nucleic acid transport | 1.67e-02 |
| RIOK1 | GO:0050658 | RNA transport | 1.67e-02 |
| RIOK1 | GO:0051236 | establishment of RNA localization | 1.67e-02 |
| RIOK1 | GO:0043433 | negative regulation of DNA-binding transcription factor activity | 1.67e-02 |
| RIOK1 | GO:0051260 | protein homooligomerization | 1.67e-02 |
| RIOK1 | GO:0006403 | RNA localization | 1.67e-02 |
| RIOK1 | GO:1902115 | regulation of organelle assembly | 1.67e-02 |
| RIOK1 | GO:0015931 | nucleobase-containing compound transport | 1.67e-02 |
| RIOK1 | GO:0051259 | protein complex oligomerization | 1.77e-02 |
| RIOK1 | GO:0007265 | Ras protein signal transduction | 2.16e-02 |
| RIOK1 | GO:0051235 | maintenance of location | 2.16e-02 |
| RIOK1 | GO:0051090 | regulation of DNA-binding transcription factor activity | 2.27e-02 |
| RIOK1 | GO:0140694 | non-membrane-bounded organelle assembly | 2.27e-02 |
| RIOK1 | GO:0007264 | small GTPase mediated signal transduction | 2.60e-02 |
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Related Drugs to PTMA_RIOK1 |
| 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 PTMA-RIOK1 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 PTMA_RIOK1 |
| 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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