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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 RPL11 |
Gene summary |
| Gene information | Gene symbol | RPL11 | Gene ID | 6135 |
| Gene name | ribosomal protein L11 | |
| Synonyms | DBA7|GIG34|L11|uL5 | |
| Cytomap | 1p36.11 | |
| Type of gene | protein-coding | |
| Description | 60S ribosomal protein L11CLL-associated antigen KW-12cell growth-inhibiting protein 34large ribosomal subunit protein uL5 | |
| Modification date | 20180523 | |
| UniProtAcc | P62913 | |
| Context | PubMed: RPL11 [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 |
| RPL11 | GO:0002181 | cytoplasmic translation | 25957688 |
| RPL11 | GO:0010628 | positive regulation of gene expression | 18560357 |
| RPL11 | GO:2000435 | negative regulation of protein neddylation | 18560357 |
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Exon skipping events across known transcript of Ensembl for RPL11 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 RPL11 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for RPL11 |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_2481 | 1 | 24019101:24019249:24020296:24020403:24021149:24021278 | 24020296:24020403 | ENSG00000142676.8 | ENST00000458455.1,ENST00000482370.1,ENST00000443624.1,ENST00000374550.3 |
| exon_skip_2496 | 1 | 24020378:24020403:24021149:24021281:24022287:24022398 | 24021149:24021281 | ENSG00000142676.8 | ENST00000458455.1,ENST00000482370.1,ENST00000374550.3 |
| exon_skip_2504 | 1 | 24021149:24021281:24022287:24022398:24022833:24022908 | 24022287:24022398 | ENSG00000142676.8 | ENST00000482370.1,ENST00000374550.3 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for RPL11 |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_2481 | 1 | 24019101:24019249:24020296:24020403:24021149:24021278 | 24020296:24020403 | ENSG00000142676.8 | ENST00000374550.3,ENST00000482370.1,ENST00000443624.1,ENST00000458455.1 |
| exon_skip_2496 | 1 | 24020378:24020403:24021149:24021281:24022287:24022398 | 24021149:24021281 | ENSG00000142676.8 | ENST00000374550.3,ENST00000482370.1,ENST00000458455.1 |
| exon_skip_2504 | 1 | 24021149:24021281:24022287:24022398:24022833:24022908 | 24022287:24022398 | ENSG00000142676.8 | ENST00000374550.3,ENST00000482370.1 |
PSI values of skipped exons in GTEx. |
| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for RPL11 |
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 |
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 |
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Infer the effects of exon skipping event on protein functional features for RPL11 |
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 RPL11 |
- Lollipop plot for presenting exon skipping associated SNVs.* Click on the image to enlarge it in a new window. |
- 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 |
| KICH | TCGA-KN-8425-01 | exon_skip_2496 | 24021150 | 24021281 | 24021261 | 24021261 | Frame_Shift_Del | T | - | p.I125fs |
| UCEC | TCGA-BS-A0TJ-01 | exon_skip_2496 | 24021150 | 24021281 | 24021169 | 24021170 | Frame_Shift_Ins | - | A | p.R95fs |
| PAAD | TCGA-HZ-8002-01 | exon_skip_2504 | 24022288 | 24022398 | 24022341 | 24022341 | Nonsense_Mutation | C | A | p.C150* |
| SKCM | TCGA-ER-A19H-06 | exon_skip_2504 | 24022288 | 24022398 | 24022390 | 24022390 | Nonsense_Mutation | C | T | p.Q167* |
- 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 |
| KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 24022288 | 24022398 | 24022343 | 24022343 | Frame_Shift_Del | T | - | p.I151fs |
| HNT34_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 24021150 | 24021281 | 24021179 | 24021181 | In_Frame_Del | CTT | - | p.F99del |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 24021150 | 24021281 | 24021154 | 24021154 | Missense_Mutation | G | A | p.R90Q |
| AGS_STOMACH | 24021150 | 24021281 | 24021166 | 24021166 | Missense_Mutation | T | C | p.L94S |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 24021150 | 24021281 | 24021192 | 24021192 | Missense_Mutation | G | A | p.G103R |
| ESS1_ENDOMETRIUM | 24021150 | 24021281 | 24021225 | 24021225 | Missense_Mutation | G | A | p.D114N |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 24021150 | 24021281 | 24021253 | 24021253 | Missense_Mutation | T | C | p.I123T |
| DOV13_OVARY | 24021150 | 24021281 | 24021264 | 24021264 | Missense_Mutation | G | A | p.G127S |
| LS180_LARGE_INTESTINE | 24021150 | 24021281 | 24021265 | 24021265 | Missense_Mutation | G | A | p.G127D |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 24022288 | 24022398 | 24022315 | 24022315 | Missense_Mutation | G | A | p.A142T |
| SNU1040_LARGE_INTESTINE | 24022288 | 24022398 | 24022315 | 24022315 | Missense_Mutation | G | A | p.A142T |
| MFE319_ENDOMETRIUM | 24021150 | 24021281 | 24021275 | 24021284 | Splice_Site | CTATGTGGTA | - | p.FYV130fs |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RPL11 |
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 RPL11 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RPL11 |
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RelatedDrugs for RPL11 |
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 RPL11 |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| RPL11 | C2675512 | Diamond-Blackfan Anemia 7 | 1 | CTD_human;UNIPROT |