| Kinase Fusion partner gene information | Kinase Fusion gene name: RIOK1_EYS |
KinaseFusionDB ID: KFG5368 | FusionGDB2.0 ID: KFG5368 | | Hgene | Tgene | Gene symbol | RIOK1 | EYS | Gene ID | 83732 | 346007 | | Gene name | RIO kinase 1 | eyes shut homolog |
| Synonyms | AD034|RIO1|RRP10|bA288G3.1 | C6orf178|C6orf179|C6orf180|EGFL10|EGFL11|RP25|SPAM|bA166P24.2|bA307F22.3|bA74E24.1|dJ1018A4.2|dJ22I17.2|dJ303F19.1 |
| Cytomap | 6p24.3 | 6q12 |
| Type of gene | protein-coding | protein-coding |
| Description | serine/threonine-protein kinase RIO1 | protein eyes shut homologEGF-like-domain, multiple 10EGF-like-domain, multiple 11epidermal growth factor-like protein 10epidermal growth factor-like protein 11protein spacemaker homolog |
| Modification date | 20240407 | 20240305 |
| UniProtAcc | Q9BRS2 | Q5T1H1 |
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000379834, | ENST00000342421,
ENST00000370618, ENST00000393380,
ENST00000486069, ENST00000370616,
ENST00000370621, ENST00000503581,
|
| Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: RIOK1 [Title/Abstract] AND EYS [Title/Abstract] AND fusion [Title/Abstract] |
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | RIOK1(7414623)-EYS(66006012), # samples:6
|
 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 RIOK1 (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 EYS (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| 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-EK-A2H0-01A | RIOK1 | chr6 | 7414623 | EYS | chr6 | 66006012 |
| 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) |
| 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
|
Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:7414623/:66006012)
- 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. |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
RIOK1
Q9BRS2 | EYS
Q5T1H1 |
| 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}. | FUNCTION: Required to maintain the integrity of photoreceptor cells (PubMed:18836446). Specifically required for normal morphology of the photoreceptor ciliary pocket, and might thus facilitate protein trafficking between the photoreceptor inner and outer segments via the transition zone (By similarity). {ECO:0000250|UniProtKB:B8JI71, ECO:0000269|PubMed:18836446}. |
| 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 download page * 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 |
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 |
Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Distribution of the number of studies mentioning RIOK1-EYS 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 |
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) |
Diseases associated with fusion partners.
(DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| 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 |
Copyright 2024-Present -The University of Texas Health Science Center at Houston