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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 RIOK1 |
 Gene summary |
| Gene information | Gene symbol | RIOK1 | Gene ID | 83732 |
| Gene name | RIO kinase 1 | |
| Synonyms | AD034|RIO1|RRP10|bA288G3.1 | |
| Cytomap | 6p24.3 | |
| Type of gene | protein-coding | |
| Description | serine/threonine-protein kinase RIO1 | |
| Modification date | 20180523 | |
| UniProtAcc | Q9BRS2 | |
| Context | PubMed: RIOK1 [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 |
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Exon skipping events across known transcript of Ensembl for RIOK1 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 RIOK1 |
| 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 RIOK1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_447806 | 6 | 7393331:7393536:7395253:7395376:7396935:7397005 | 7395253:7395376 | ENSG00000124784.4 | ENST00000475351.1 |
| exon_skip_447807 | 6 | 7393331:7393536:7395285:7395376:7396935:7397005 | 7395285:7395376 | ENSG00000124784.4 | ENST00000379834.2 |
| exon_skip_447809 | 6 | 7395285:7395376:7396935:7397005:7398930:7398973 | 7396935:7397005 | ENSG00000124784.4 | ENST00000379834.2,ENST00000475351.1 |
| exon_skip_447810 | 6 | 7396984:7397005:7398930:7398973:7401190:7401283 | 7398930:7398973 | ENSG00000124784.4 | ENST00000379834.2,ENST00000475351.1,ENST00000264874.3 |
| exon_skip_447812 | 6 | 7402835:7402948:7403049:7403130:7404173:7404260 | 7403049:7403130 | ENSG00000124784.4 | ENST00000379834.2 |
| exon_skip_447813 | 6 | 7411564:7411684:7413121:7413175:7414470:7414623 | 7413121:7413175 | ENSG00000124784.4 | ENST00000379834.2,ENST00000264874.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for RIOK1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_447806 | 6 | 7393331:7393536:7395253:7395376:7396935:7397005 | 7395253:7395376 | ENSG00000124784.4 | ENST00000475351.1 |
| exon_skip_447807 | 6 | 7393331:7393536:7395285:7395376:7396935:7397005 | 7395285:7395376 | ENSG00000124784.4 | ENST00000379834.2 |
| exon_skip_447809 | 6 | 7395285:7395376:7396935:7397005:7398930:7398973 | 7396935:7397005 | ENSG00000124784.4 | ENST00000379834.2,ENST00000475351.1 |
| exon_skip_447810 | 6 | 7396984:7397005:7398930:7398973:7401190:7401283 | 7398930:7398973 | ENSG00000124784.4 | ENST00000379834.2,ENST00000475351.1,ENST00000264874.3 |
| exon_skip_447812 | 6 | 7402835:7402948:7403049:7403130:7404173:7404260 | 7403049:7403130 | ENSG00000124784.4 | ENST00000379834.2 |
| exon_skip_447813 | 6 | 7411564:7411684:7413121:7413175:7414470:7414623 | 7413121:7413175 | ENSG00000124784.4 | ENST00000379834.2,ENST00000264874.3 |
| 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 RIOK1 |
| 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 |
| ENST00000379834 | 7395285 | 7395376 | Frame-shift |
| ENST00000379834 | 7396935 | 7397005 | Frame-shift |
| ENST00000379834 | 7398930 | 7398973 | Frame-shift |
| ENST00000379834 | 7403049 | 7403130 | In-frame |
| ENST00000379834 | 7413121 | 7413175 | 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 |
| ENST00000379834 | 7395285 | 7395376 | Frame-shift |
| ENST00000379834 | 7396935 | 7397005 | Frame-shift |
| ENST00000379834 | 7398930 | 7398973 | Frame-shift |
| ENST00000379834 | 7403049 | 7403130 | In-frame |
| ENST00000379834 | 7413121 | 7413175 | In-frame |
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Infer the effects of exon skipping event on protein functional features for RIOK1 |
| 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 |
| ENST00000379834 | 2827 | 568 | 7403049 | 7403130 | 1194 | 1274 | 229 | 255 |
| ENST00000379834 | 2827 | 568 | 7413121 | 7413175 | 1897 | 1950 | 463 | 481 |
| 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 |
| ENST00000379834 | 2827 | 568 | 7403049 | 7403130 | 1194 | 1274 | 229 | 255 |
| ENST00000379834 | 2827 | 568 | 7413121 | 7413175 | 1897 | 1950 | 463 | 481 |
| 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 |
| Q9BRS2 | 229 | 255 | 1 | 568 | Chain | ID=PRO_0000213526;Note=Serine/threonine-protein kinase RIO1 |
| Q9BRS2 | 229 | 255 | 180 | 479 | Domain | Note=Protein kinase |
| Q9BRS2 | 229 | 255 | 246 | 259 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4OTP |
| Q9BRS2 | 463 | 481 | 1 | 568 | Chain | ID=PRO_0000213526;Note=Serine/threonine-protein kinase RIO1 |
| Q9BRS2 | 463 | 481 | 180 | 479 | Domain | Note=Protein kinase |
| 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 |
| Q9BRS2 | 229 | 255 | 1 | 568 | Chain | ID=PRO_0000213526;Note=Serine/threonine-protein kinase RIO1 |
| Q9BRS2 | 229 | 255 | 180 | 479 | Domain | Note=Protein kinase |
| Q9BRS2 | 229 | 255 | 246 | 259 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4OTP |
| Q9BRS2 | 463 | 481 | 1 | 568 | Chain | ID=PRO_0000213526;Note=Serine/threonine-protein kinase RIO1 |
| Q9BRS2 | 463 | 481 | 180 | 479 | Domain | Note=Protein kinase |
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SNVs in the skipped exons for RIOK1 |
| - 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-A1EG-01 | exon_skip_447813 | 7413122 | 7413175 | 7413168 | 7413168 | Frame_Shift_Del | T | - | p.V479fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_447809 | 7396936 | 7397005 | 7396989 | 7396990 | Frame_Shift_Ins | - | A | p.K141fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_447812 | 7403050 | 7403130 | 7403105 | 7403106 | Frame_Shift_Ins | - | A | p.K248fs |
| - 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 |
| HCC1195_LUNG | 7395254 | 7395376 | 7395371 | 7395371 | Missense_Mutation | A | G | p.N121S |
| HCC1195_LUNG | 7395286 | 7395376 | 7395371 | 7395371 | Missense_Mutation | A | G | p.N121S |
| HS940T_FIBROBLAST | 7395254 | 7395376 | 7395373 | 7395373 | Missense_Mutation | T | A | p.L122I |
| HS940T_FIBROBLAST | 7395286 | 7395376 | 7395373 | 7395373 | Missense_Mutation | T | A | p.L122I |
| HS944T_SKIN | 7396936 | 7397005 | 7397001 | 7397001 | Missense_Mutation | G | A | p.D145N |
| SNU1040_LARGE_INTESTINE | 7398931 | 7398973 | 7398966 | 7398966 | Missense_Mutation | T | C | p.V158A |
| HUH1_LIVER | 7403050 | 7403130 | 7403054 | 7403054 | Missense_Mutation | C | T | p.R231C |
| HEC108_ENDOMETRIUM | 7403050 | 7403130 | 7403079 | 7403079 | Missense_Mutation | C | A | p.P239H |
| RH28_SOFT_TISSUE | 7413122 | 7413175 | 7413125 | 7413125 | Missense_Mutation | C | G | p.L465V |
| SNU81_LARGE_INTESTINE | 7395254 | 7395376 | 7395292 | 7395292 | Nonsense_Mutation | C | T | p.R95* |
| SNU81_LARGE_INTESTINE | 7395286 | 7395376 | 7395292 | 7395292 | Nonsense_Mutation | C | T | p.R95* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RIOK1 |
| 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 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RIOK1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RIOK1 |
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RelatedDrugs for RIOK1 |
| 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 |
| Q9BRS2 | DB12010 | Fostamatinib | Serine/threonine-protein kinase RIO1 | small molecule | approved|investigational |
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RelatedDiseases for RIOK1 |
| 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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