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Fusion gene ID: 31278 |
FusionGeneSummary for RIOK1_EYS |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: RIOK1_EYS | Fusion gene ID: 31278 | Hgene | Tgene | Gene symbol | RIOK1 | EYS | Gene ID | 83732 | 346007 |
| Gene name | RIO kinase 1 | eyes shut homolog (Drosophila) | |
| 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 | 20180523 | 20180519 | |
| UniProtAcc | Q9BRS2 | Q5T1H1 | |
| Ensembl transtripts involved in fusion gene | ENST00000379834, | ENST00000503581, ENST00000370621, ENST00000370616, ENST00000393380, ENST00000342421, ENST00000370618, ENST00000486069, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 26 X 15 X 12=4680 |
| # samples | 5 | 27 | |
| ** MAII score | log2(5/8*10)=2.64385618977472 | log2(27/4680*10)=-4.11547721741994 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: RIOK1 [Title/Abstract] AND EYS [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | |||
| * DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
| 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 |
| Fusion gene information from three resources (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * 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. |
| Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| TCGA | RV | CESC | TCGA-ZJ-A8QQ-01A | RIOK1 | chr6 | 7414623 | + | EYS | chr6 | 66006012 | - |
| TCGA | RV | CESC | TCGA-EK-A2H0-01A | RIOK1 | chr6 | 7414623 | + | EYS | chr6 | 66006012 | - |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| Frame-shift | ENST00000379834 | ENST00000503581 | RIOK1 | chr6 | 7414623 | + | EYS | chr6 | 66006012 | - |
| Frame-shift | ENST00000379834 | ENST00000370621 | RIOK1 | chr6 | 7414623 | + | EYS | chr6 | 66006012 | - |
| Frame-shift | ENST00000379834 | ENST00000370616 | RIOK1 | chr6 | 7414623 | + | EYS | chr6 | 66006012 | - |
| 5CDS-intron | ENST00000379834 | ENST00000393380 | RIOK1 | chr6 | 7414623 | + | EYS | chr6 | 66006012 | - |
| 5CDS-intron | ENST00000379834 | ENST00000342421 | RIOK1 | chr6 | 7414623 | + | EYS | chr6 | 66006012 | - |
| 5CDS-intron | ENST00000379834 | ENST00000370618 | RIOK1 | chr6 | 7414623 | + | EYS | chr6 | 66006012 | - |
| 5CDS-intron | ENST00000379834 | ENST00000486069 | RIOK1 | chr6 | 7414623 | + | EYS | chr6 | 66006012 | - |
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FusionProtFeatures for RIOK1_EYS |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| RIOK1 | EYS |
| Involved in the final steps of cytoplasmic maturation ofthe 40S ribosomal subunit. Involved in processing of 18S-E pre-rRNA to the mature 18S rRNA. Required for the recycling of NOB1and PNO1 from the late 40S precursor (PubMed:22072790). Theassociation with the very late 40S subunit intermediate mayinvolve a translation-like checkpoint point cycle preceeding thebinding to the 60S ribosomal subunit (By similarity). Despite theprotein kinase domain is proposed to act predominantly as anATPase (By similarity). The catalytic activity regulates itsdynamic association with the 40S subunit (By similarity). Inaddition to its role in ribosomal biogenesis acts as an adapterprotein by recruiting NCL/nucleolin the to PRMT5 complex for itssymmetrical 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. |
| - In-frame and retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| - In-frame and not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for RIOK1_EYS |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
| * Fusion amino acid sequences. |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| * Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for RIOK1_EYS |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| RIOK1 | YWHAB, ELAVL1, EGFR, APP, EIF4A3, MAGOH, SMURF1, UBL4A, PAN2, FBXO6, PRMT5, WDR77, GAR1, RPS2, FBL, LPPR1, RBFOX2, TINAGL1, FAM177A1, NTRK1, MED4, MED20, MED23, POC1A, XPO1, EMC2, GAN, FBXW7, SNW1, RC3H1, CRBN, LSM6, SNRPN, CIRBP, FARP2, LACTB, RBFOX1, RPL15, WDYHV1, SNRNP200, PRPF8, SMU1, PRPF6, EFTUD2, UBE2A | EYS | EGFR |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for RIOK1_EYS |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for RIOK1_EYS |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | EYS | C1864446 | Retinitis Pigmentosa 25 | 2 | CTD_human;UNIPROT |
| Tgene | EYS | C0035334 | Retinitis Pigmentosa | 1 | CTD_human;ORPHANET |
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