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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 RPL8 |
 Gene summary |
| Gene information | Gene symbol | RPL8 | Gene ID | 6132 |
| Gene name | ribosomal protein L8 | |
| Synonyms | L8 | |
| Cytomap | 8q24.3 | |
| Type of gene | protein-coding | |
| Description | 60S ribosomal protein L8large ribosomal subunit protein uL2 | |
| Modification date | 20180523 | |
| UniProtAcc | P62917 | |
| Context | PubMed: RPL8 [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 |
| RPL8 | GO:0002181 | cytoplasmic translation | 25957688 |
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Exon skipping events across known transcript of Ensembl for RPL8 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 RPL8 |
| 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 RPL8 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_494504 | 8 | 146015193:146015347:146015739:146015855:146016661:146016692 | 146015739:146015855 | ENSG00000161016.11 | ENST00000528296.1,ENST00000533397.1,ENST00000526668.1,ENST00000527914.1,ENST00000394920.2,ENST00000262584.3,ENST00000529163.1,ENST00000531975.1,ENST00000528957.1 |
| exon_skip_494546 | 8 | 146015739:146015855:146016661:146016880:146017157:146017257 | 146016661:146016880 | ENSG00000161016.11 | ENST00000532702.1,ENST00000526668.1,ENST00000394920.2,ENST00000262584.3,ENST00000531975.1,ENST00000528957.1 |
| exon_skip_494550 | 8 | 146015739:146015855:146016661:146016880:146017750:146017775 | 146016661:146016880 | ENSG00000161016.11 | ENST00000529163.1 |
| exon_skip_494570 | 8 | 146016661:146016692:146017234:146017299:146017376:146017442 | 146017234:146017299 | ENSG00000161016.11 | ENST00000528296.1 |
| exon_skip_494597 | 8 | 146017287:146017299:146017376:146017525:146017750:146017775 | 146017376:146017525 | ENSG00000161016.11 | ENST00000525232.1,ENST00000262584.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for RPL8 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_494504 | 8 | 146015193:146015347:146015739:146015855:146016661:146016692 | 146015739:146015855 | ENSG00000161016.11 | ENST00000531975.1,ENST00000529163.1,ENST00000526668.1,ENST00000528296.1,ENST00000394920.2,ENST00000527914.1,ENST00000262584.3,ENST00000528957.1,ENST00000533397.1 |
| exon_skip_494534 | 8 | 146015840:146015855:146016062:146016148:146016661:146016692 | 146016062:146016148 | ENSG00000161016.11 | ENST00000529920.1 |
| exon_skip_494546 | 8 | 146015739:146015855:146016661:146016880:146017157:146017257 | 146016661:146016880 | ENSG00000161016.11 | ENST00000531975.1,ENST00000526668.1,ENST00000394920.2,ENST00000262584.3,ENST00000528957.1,ENST00000532702.1 |
| exon_skip_494597 | 8 | 146017287:146017299:146017376:146017525:146017750:146017775 | 146017376:146017525 | ENSG00000161016.11 | ENST00000262584.3,ENST00000525232.1 |
| 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 RPL8 |
| 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 |
| ENST00000262584 | 146017376 | 146017525 | 3UTR-3CDS |
| ENST00000262584 | 146015739 | 146015855 | Frame-shift |
| ENST00000394920 | 146015739 | 146015855 | Frame-shift |
| ENST00000528957 | 146015739 | 146015855 | Frame-shift |
| ENST00000262584 | 146016661 | 146016880 | In-frame |
| ENST00000394920 | 146016661 | 146016880 | In-frame |
| ENST00000528957 | 146016661 | 146016880 | 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 |
| ENST00000262584 | 146017376 | 146017525 | 3UTR-3CDS |
| ENST00000262584 | 146015739 | 146015855 | Frame-shift |
| ENST00000394920 | 146015739 | 146015855 | Frame-shift |
| ENST00000528957 | 146015739 | 146015855 | Frame-shift |
| ENST00000262584 | 146016661 | 146016880 | In-frame |
| ENST00000394920 | 146016661 | 146016880 | In-frame |
| ENST00000528957 | 146016661 | 146016880 | In-frame |
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Infer the effects of exon skipping event on protein functional features for RPL8 |
| 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 |
| ENST00000262584 | 1058 | 257 | 146016661 | 146016880 | 514 | 732 | 93 | 166 |
| ENST00000394920 | 982 | 257 | 146016661 | 146016880 | 437 | 655 | 93 | 166 |
| ENST00000528957 | 1032 | 257 | 146016661 | 146016880 | 503 | 721 | 93 | 166 |
| 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 |
| ENST00000262584 | 1058 | 257 | 146016661 | 146016880 | 514 | 732 | 93 | 166 |
| ENST00000394920 | 982 | 257 | 146016661 | 146016880 | 437 | 655 | 93 | 166 |
| ENST00000528957 | 1032 | 257 | 146016661 | 146016880 | 503 | 721 | 93 | 166 |
| 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 |
| P62917 | 93 | 166 | 2 | 257 | Chain | ID=PRO_0000129743;Note=60S ribosomal protein L8 |
| P62917 | 93 | 166 | 2 | 257 | Chain | ID=PRO_0000129743;Note=60S ribosomal protein L8 |
| P62917 | 93 | 166 | 2 | 257 | Chain | ID=PRO_0000129743;Note=60S ribosomal protein L8 |
| P62917 | 93 | 166 | 149 | 149 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 |
| P62917 | 93 | 166 | 149 | 149 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 |
| P62917 | 93 | 166 | 149 | 149 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 |
| P62917 | 93 | 166 | 98 | 98 | Natural variant | ID=VAR_019658;Note=I->V;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15489334,ECO:0000269|Ref.3;Dbxref=dbSNP:rs11539893,PMID:15489334 |
| P62917 | 93 | 166 | 98 | 98 | Natural variant | ID=VAR_019658;Note=I->V;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15489334,ECO:0000269|Ref.3;Dbxref=dbSNP:rs11539893,PMID:15489334 |
| P62917 | 93 | 166 | 98 | 98 | Natural variant | ID=VAR_019658;Note=I->V;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15489334,ECO:0000269|Ref.3;Dbxref=dbSNP:rs11539893,PMID:15489334 |
| 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 |
| P62917 | 93 | 166 | 2 | 257 | Chain | ID=PRO_0000129743;Note=60S ribosomal protein L8 |
| P62917 | 93 | 166 | 2 | 257 | Chain | ID=PRO_0000129743;Note=60S ribosomal protein L8 |
| P62917 | 93 | 166 | 2 | 257 | Chain | ID=PRO_0000129743;Note=60S ribosomal protein L8 |
| P62917 | 93 | 166 | 149 | 149 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 |
| P62917 | 93 | 166 | 149 | 149 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 |
| P62917 | 93 | 166 | 149 | 149 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 |
| P62917 | 93 | 166 | 98 | 98 | Natural variant | ID=VAR_019658;Note=I->V;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15489334,ECO:0000269|Ref.3;Dbxref=dbSNP:rs11539893,PMID:15489334 |
| P62917 | 93 | 166 | 98 | 98 | Natural variant | ID=VAR_019658;Note=I->V;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15489334,ECO:0000269|Ref.3;Dbxref=dbSNP:rs11539893,PMID:15489334 |
| P62917 | 93 | 166 | 98 | 98 | Natural variant | ID=VAR_019658;Note=I->V;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15489334,ECO:0000269|Ref.3;Dbxref=dbSNP:rs11539893,PMID:15489334 |
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SNVs in the skipped exons for RPL8 |
| - 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 |
| STAD | TCGA-KB-A93J-01 | exon_skip_494546 exon_skip_494550 | 146016662 | 146016880 | 146016765 | 146016771 | Frame_Shift_Del | GTTCCCT | - | p.131_133del |
| BRCA | TCGA-D8-A1JL-01 | exon_skip_494546 exon_skip_494550 | 146016662 | 146016880 | 146016828 | 146016829 | Frame_Shift_Ins | - | GG | p.I112fs |
| COAD | TCGA-CM-4743-01 | exon_skip_494504 | 146015740 | 146015855 | 146015856 | 146015856 | Splice_Site | C | A | . |
| - 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 |
| NCIN87_STOMACH | 146015740 | 146015855 | 146015751 | 146015751 | Missense_Mutation | C | A | p.V202L |
| HCC2998_LARGE_INTESTINE | 146015740 | 146015855 | 146015772 | 146015772 | Missense_Mutation | A | C | p.C195G |
| SLVL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 146016662 | 146016880 | 146016710 | 146016710 | Missense_Mutation | G | A | p.P151S |
| LNCAPCLONEFGC_PROSTATE | 146016662 | 146016880 | 146016820 | 146016820 | Missense_Mutation | C | A | p.C114F |
| A388_SKIN | 146016662 | 146016880 | 146016836 | 146016836 | Missense_Mutation | C | T | p.E109K |
| NCIH28_PLEURA | 146016662 | 146016880 | 146016838 | 146016838 | Missense_Mutation | G | A | p.P108L |
| EW7_BONE | 146016662 | 146016880 | 146016865 | 146016865 | Missense_Mutation | C | G | p.G99A |
| HT55_LARGE_INTESTINE | 146017235 | 146017299 | 146017236 | 146017236 | Missense_Mutation | G | A | p.R68W |
| HDQP1_BREAST | 146017377 | 146017525 | 146017421 | 146017421 | Missense_Mutation | C | G | p.V32L |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RPL8 |
| 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 RPL8 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RPL8 |
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RelatedDrugs for RPL8 |
| 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 RPL8 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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