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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 RPS19 |
 Gene summary |
| Gene information | Gene symbol | RPS19 | Gene ID | 6223 |
| Gene name | ribosomal protein S19 | |
| Synonyms | DBA|DBA1|S19|eS19 | |
| Cytomap | 19q13.2 | |
| Type of gene | protein-coding | |
| Description | 40S ribosomal protein S19small ribosomal subunit protein eS19 | |
| Modification date | 20180523 | |
| UniProtAcc | P39019 | |
| Context | PubMed: RPS19 [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 |
| RPS19 | GO:0002548 | monocyte chemotaxis | 11226885 |
| RPS19 | GO:0031640 | killing of cells of other organism | 15019208 |
| RPS19 | GO:0050829 | defense response to Gram-negative bacterium | 15019208 |
| RPS19 | GO:0051262 | protein tetramerization | 11226885 |
| RPS19 | GO:0060265 | positive regulation of respiratory burst involved in inflammatory response | 15750715 |
| RPS19 | GO:0060266 | negative regulation of respiratory burst involved in inflammatory response | 15750715 |
| RPS19 | GO:0061844 | antimicrobial humoral immune response mediated by antimicrobial peptide | 15019208 |
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Exon skipping events across known transcript of Ensembl for RPS19 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 RPS19 |
| 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 RPS19 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_307566 | 19 | 42364326:42364359:42364844:42364915:42365180:42365281 | 42364844:42364915 | ENSG00000105372.2 | ENST00000601492.1,ENST00000598466.1 |
| exon_skip_307570 | 19 | 42364326:42364359:42364854:42364915:42365180:42365281 | 42364854:42364915 | ENSG00000105372.2 | ENST00000221975.2 |
| exon_skip_307580 | 19 | 42365269:42365281:42365548:42365629:42373100:42373154 | 42365548:42365629 | ENSG00000105372.2 | ENST00000601492.1 |
| exon_skip_307592 | 19 | 42365180:42365281:42373100:42373284:42373768:42373823 | 42373100:42373284 | ENSG00000105372.2 | ENST00000598742.1,ENST00000221975.2,ENST00000593863.1 |
| exon_skip_307607 | 19 | 42367940:42368055:42368243:42368969:42373100:42373145 | 42368243:42368969 | ENSG00000105372.2 | ENST00000598399.1 |
| exon_skip_307613 | 19 | 42373237:42373284:42373768:42373823:42375418:42375484 | 42373768:42373823 | ENSG00000105372.2 | ENST00000598742.1,ENST00000221975.2,ENST00000593863.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for RPS19 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_307566 | 19 | 42364326:42364359:42364844:42364915:42365180:42365281 | 42364844:42364915 | ENSG00000105372.2 | ENST00000598466.1,ENST00000601492.1 |
| exon_skip_307570 | 19 | 42364326:42364359:42364854:42364915:42365180:42365281 | 42364854:42364915 | ENSG00000105372.2 | ENST00000221975.2 |
| exon_skip_307580 | 19 | 42365269:42365281:42365548:42365629:42373100:42373154 | 42365548:42365629 | ENSG00000105372.2 | ENST00000601492.1 |
| exon_skip_307586 | 19 | 42365180:42365281:42367940:42368055:42368243:42368337 | 42367940:42368055 | ENSG00000105372.2 | ENST00000598399.1 |
| exon_skip_307592 | 19 | 42365180:42365281:42373100:42373284:42373768:42373823 | 42373100:42373284 | ENSG00000105372.2 | ENST00000598742.1,ENST00000221975.2,ENST00000593863.1 |
| exon_skip_307607 | 19 | 42367940:42368055:42368243:42368969:42373100:42373145 | 42368243:42368969 | ENSG00000105372.2 | ENST00000598399.1 |
| exon_skip_307613 | 19 | 42373237:42373284:42373768:42373823:42375418:42375484 | 42373768:42373823 | ENSG00000105372.2 | ENST00000598742.1,ENST00000221975.2,ENST00000593863.1 |
| 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 RPS19 |
| 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 |
| ENST00000593863 | 42373100 | 42373284 | Frame-shift |
| ENST00000598742 | 42373100 | 42373284 | Frame-shift |
| ENST00000593863 | 42373768 | 42373823 | Frame-shift |
| ENST00000598742 | 42373768 | 42373823 | Frame-shift |
| 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 |
| ENST00000593863 | 42373100 | 42373284 | Frame-shift |
| ENST00000598742 | 42373100 | 42373284 | Frame-shift |
| ENST00000593863 | 42373768 | 42373823 | Frame-shift |
| ENST00000598742 | 42373768 | 42373823 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for RPS19 |
| 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 |
| 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 |
| 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 |
| 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 |
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SNVs in the skipped exons for RPS19 |
| - 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 |
| ESCA | TCGA-L5-A4OH-01 | exon_skip_307570 exon_skip_307566 | 42364845 | 42364915 | 42364855 | 42364855 | Frame_Shift_Del | T | - | p.T5fs |
| ESCA | TCGA-L5-A4OH-01 | exon_skip_307570 exon_skip_307566 | 42364855 | 42364915 | 42364855 | 42364855 | Frame_Shift_Del | T | - | p.T5fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_307570 exon_skip_307566 | 42364845 | 42364915 | 42364911 | 42364911 | Frame_Shift_Del | A | - | p.K24fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_307570 exon_skip_307566 | 42364855 | 42364915 | 42364911 | 42364911 | Frame_Shift_Del | A | - | p.K24fs |
| SKCM | TCGA-D3-A8GB-06 | exon_skip_307592 | 42373101 | 42373284 | 42373208 | 42373208 | Nonsense_Mutation | C | T | p.R94* |
| BLCA | TCGA-ZF-AA4V-01 | exon_skip_307613 | 42373769 | 42373823 | 42373788 | 42373788 | Nonsense_Mutation | C | T | p.Q126* |
| LUSC | TCGA-18-3419-01 | exon_skip_307613 | 42373769 | 42373823 | 42373788 | 42373788 | Nonsense_Mutation | C | T | p.Q126* |
| - 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 |
| HT3_CERVIX | 42364855 | 42364915 | 42364864 | 42364866 | In_Frame_Del | AAG | - | p.7_8KD>N |
| HT3_CERVIX | 42364845 | 42364915 | 42364864 | 42364866 | In_Frame_Del | AAG | - | p.7_8KD>N |
| HCT15_LARGE_INTESTINE | 42364855 | 42364915 | 42364854 | 42364854 | Missense_Mutation | G | T | p.V4F |
| HCT15_LARGE_INTESTINE | 42364845 | 42364915 | 42364854 | 42364854 | Missense_Mutation | G | T | p.V4F |
| CHAGOK1_LUNG | 42364855 | 42364915 | 42364867 | 42364867 | Missense_Mutation | A | G | p.D8G |
| CHAGOK1_LUNG | 42364845 | 42364915 | 42364867 | 42364867 | Missense_Mutation | A | G | p.D8G |
| MDAMB361_BREAST | 42364855 | 42364915 | 42364891 | 42364891 | Missense_Mutation | G | C | p.R16T |
| MDAMB361_BREAST | 42364845 | 42364915 | 42364891 | 42364891 | Missense_Mutation | G | C | p.R16T |
| SKMEL2_SKIN | 42373101 | 42373284 | 42373157 | 42373157 | Missense_Mutation | A | G | p.K77E |
| NCIH854_LUNG | 42373101 | 42373284 | 42373196 | 42373196 | Missense_Mutation | A | G | p.S90G |
| SNU1040_LARGE_INTESTINE | 42373769 | 42373823 | 42373769 | 42373769 | Splice_Site | C | T | p.G119G |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RPS19 |
| 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_307607 | 19 | 42367940:42368055:42368243:42368969:42373100:42373145 | 42368243:42368969 | ENST00000598399.1 | CESC | rs7254214 | chr19:42368738 | A/G | 3.77e-05 |
| exon_skip_307607 | 19 | 42367940:42368055:42368243:42368969:42373100:42373145 | 42368243:42368969 | ENST00000598399.1 | CESC | rs7254214 | chr19:42368738 | A/G | 3.77e-05 |
| exon_skip_307607 | 19 | 42367940:42368055:42368243:42368969:42373100:42373145 | 42368243:42368969 | ENST00000598399.1 | HNSC | rs7254214 | chr19:42368738 | A/G | 8.51e-04 |
| exon_skip_307607 | 19 | 42367940:42368055:42368243:42368969:42373100:42373145 | 42368243:42368969 | ENST00000598399.1 | HNSC | rs7254214 | chr19:42368738 | A/G | 8.51e-04 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RPS19 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RPS19 |
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RelatedDrugs for RPS19 |
| 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 |
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RelatedDiseases for RPS19 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| RPS19 | C2676137 | Diamond-Blackfan Anemia 1 | 7 | UNIPROT |
| RPS19 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| RPS19 | C0038356 | Stomach Neoplasms | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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