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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for RIOK2 |
 Gene summary |
| Gene information | Gene symbol | RIOK2 | Gene ID | 55781 |
| Gene name | RIO kinase 2 | |
| Synonyms | RIO2 | |
| Cytomap | 5q15 | |
| Type of gene | protein-coding | |
| Description | serine/threonine-protein kinase RIO2 | |
| Modification date | 20180523 | |
| UniProtAcc | Q9BVS4 | |
| Context | PubMed: RIOK2 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| RIOK2 | GO:2000234 | positive regulation of rRNA processing | 19564402 |
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Exon skipping events across known transcript of Ensembl for RIOK2 from UCSC genome browser |
| Skipped exons in TCGA and GTEx based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Gene isoform structures and expression levels for RIOK2 |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for RIOK2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_443342 | 5 | 96498639:96498929:96500754:96500851:96503170:96503281 | 96500754:96500851 | ENSG00000058729.6 | ENST00000283109.3 |
| exon_skip_443344 | 5 | 96500754:96500851:96501970:96502075:96503170:96503281 | 96501970:96502075 | ENSG00000058729.6 | ENST00000511293.1 |
| exon_skip_443346 | 5 | 96503170:96503695:96504463:96504556:96506909:96507101 | 96504463:96504556 | ENSG00000058729.6 | ENST00000508447.1,ENST00000283109.3 |
| exon_skip_443347 | 5 | 96506909:96507101:96508878:96508967:96512819:96512995 | 96508878:96508967 | ENSG00000058729.6 | ENST00000508447.1,ENST00000283109.3 |
| exon_skip_443349 | 5 | 96512819:96512995:96513435:96513552:96514758:96514897 | 96513435:96513552 | ENSG00000058729.6 | ENST00000508447.1,ENST00000283109.3,ENST00000508991.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for RIOK2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_443342 | 5 | 96498639:96498929:96500754:96500851:96503170:96503281 | 96500754:96500851 | ENSG00000058729.6 | ENST00000283109.3 |
| exon_skip_443344 | 5 | 96500754:96500851:96501970:96502075:96503170:96503281 | 96501970:96502075 | ENSG00000058729.6 | ENST00000511293.1 |
| exon_skip_443346 | 5 | 96503170:96503695:96504463:96504556:96506909:96507101 | 96504463:96504556 | ENSG00000058729.6 | ENST00000283109.3,ENST00000508447.1 |
| exon_skip_443347 | 5 | 96506909:96507101:96508878:96508967:96512819:96512995 | 96508878:96508967 | ENSG00000058729.6 | ENST00000283109.3,ENST00000508447.1 |
| exon_skip_443349 | 5 | 96512819:96512995:96513435:96513552:96514758:96514897 | 96513435:96513552 | ENSG00000058729.6 | ENST00000283109.3,ENST00000508447.1,ENST00000508991.1 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for RIOK2 |
| Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000283109 | 96500754 | 96500851 | Frame-shift |
| ENST00000283109 | 96508878 | 96508967 | Frame-shift |
| ENST00000283109 | 96504463 | 96504556 | In-frame |
| ENST00000283109 | 96513435 | 96513552 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000283109 | 96500754 | 96500851 | Frame-shift |
| ENST00000283109 | 96508878 | 96508967 | Frame-shift |
| ENST00000283109 | 96504463 | 96504556 | In-frame |
| ENST00000283109 | 96513435 | 96513552 | In-frame |
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Infer the effects of exon skipping event on protein functional features for RIOK2 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000283109 | 3939 | 552 | 96513435 | 96513552 | 275 | 391 | 68 | 107 |
| ENST00000283109 | 3939 | 552 | 96504463 | 96504556 | 849 | 941 | 260 | 290 |
| Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000283109 | 3939 | 552 | 96513435 | 96513552 | 275 | 391 | 68 | 107 |
| ENST00000283109 | 3939 | 552 | 96504463 | 96504556 | 849 | 941 | 260 | 290 |
| Lost protein functional features of individual exon skipping events in TCGA. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Q9BVS4 | 68 | 107 | 1 | 552 | Chain | ID=PRO_0000213527;Note=Serine/threonine-protein kinase RIO2 |
| Q9BVS4 | 68 | 107 | 97 | 272 | Domain | Note=Protein kinase;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9BVS4 | 68 | 107 | 96 | 96 | Natural variant | ID=VAR_042347;Note=S->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs2544773,PMID:17344846 |
| Q9BVS4 | 260 | 290 | 1 | 552 | Chain | ID=PRO_0000213527;Note=Serine/threonine-protein kinase RIO2 |
| Q9BVS4 | 260 | 290 | 97 | 272 | Domain | Note=Protein kinase;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Lost protein functional features of individual exon skipping events in GTEx. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Q9BVS4 | 68 | 107 | 1 | 552 | Chain | ID=PRO_0000213527;Note=Serine/threonine-protein kinase RIO2 |
| Q9BVS4 | 68 | 107 | 97 | 272 | Domain | Note=Protein kinase;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9BVS4 | 68 | 107 | 96 | 96 | Natural variant | ID=VAR_042347;Note=S->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs2544773,PMID:17344846 |
| Q9BVS4 | 260 | 290 | 1 | 552 | Chain | ID=PRO_0000213527;Note=Serine/threonine-protein kinase RIO2 |
| Q9BVS4 | 260 | 290 | 97 | 272 | Domain | Note=Protein kinase;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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SNVs in the skipped exons for RIOK2 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| LIHC | TCGA-DD-A3A1-01 | exon_skip_443346 | 96504464 | 96504556 | 96504475 | 96504475 | Frame_Shift_Del | A | - | p.F287fs |
| UCEC | TCGA-D1-A16S-01 | exon_skip_443342 | 96500755 | 96500851 | 96500768 | 96500768 | Nonsense_Mutation | G | T | p.S494* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| CHP126_AUTONOMIC_GANGLIA | 96504464 | 96504556 | 96504513 | 96504523 | Frame_Shift_Del | TCATAAAGAAA | - | p.DFFMK271fs |
| LS180_LARGE_INTESTINE | 96500755 | 96500851 | 96500799 | 96500799 | Missense_Mutation | T | C | p.I484V |
| P31FUJ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 96500755 | 96500851 | 96500802 | 96500802 | Missense_Mutation | T | C | p.S483G |
| HEC108_ENDOMETRIUM | 96504464 | 96504556 | 96504501 | 96504501 | Missense_Mutation | A | G | p.Y279H |
| EN_ENDOMETRIUM | 96504464 | 96504556 | 96504504 | 96504504 | Missense_Mutation | T | C | p.S278G |
| HS852T_SKIN | 96504464 | 96504556 | 96504510 | 96504510 | Missense_Mutation | G | A | p.R276C |
| EWS834_BONE | 96513436 | 96513552 | 96513535 | 96513535 | Missense_Mutation | A | C | p.L75V |
| A172_CENTRAL_NERVOUS_SYSTEM | 96508879 | 96508967 | 96508963 | 96508963 | Nonsense_Mutation | A | T | p.L168* |
| HEC108_ENDOMETRIUM | 96513436 | 96513552 | 96513437 | 96513437 | Splice_Site | T | C | p.S107S |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RIOK2 |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
| exon_skip_443349 | 5 | 96512819:96512995:96513435:96513552:96514758:96514897 | 96513435:96513552 | ENST00000508447.1,ENST00000283109.3,ENST00000508991.1 | CESC | rs2544773 | chr5:96513471 | G/C | 8.53e-04 |
| exon_skip_443349 | 5 | 96512819:96512995:96513435:96513552:96514758:96514897 | 96513435:96513552 | ENST00000508447.1,ENST00000283109.3,ENST00000508991.1 | HNSC | rs2544773 | chr5:96513471 | G/C | 9.56e-05 |
| exon_skip_443349 | 5 | 96512819:96512995:96513435:96513552:96514758:96514897 | 96513435:96513552 | ENST00000508447.1,ENST00000283109.3,ENST00000508991.1 | BRCA | rs2544773 | chr5:96513471 | G/C | 5.02e-08 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RIOK2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RIOK2 |
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RelatedDrugs for RIOK2 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Q9BVS4 | DB12010 | Fostamatinib | Serine/threonine-protein kinase RIO2 | small molecule | approved|investigational |
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RelatedDiseases for RIOK2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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