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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 LRRC59 |
Gene summary |
| Gene information | Gene symbol | LRRC59 | Gene ID | 55379 |
| Gene name | leucine rich repeat containing 59 | |
| Synonyms | PRO1855|p34 | |
| Cytomap | 17q21.33 | |
| Type of gene | protein-coding | |
| Description | leucine-rich repeat-containing protein 59ribosome-binding protein p34 | |
| Modification date | 20180523 | |
| UniProtAcc | Q96AG4 | |
| Context | PubMed: LRRC59 [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 LRRC59 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 LRRC59 |
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 LRRC59 |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_291490 | 17 | 48462478:48462652:48465420:48465493:48469758:48469863 | 48465420:48465493 | ENSG00000108829.9 | ENST00000225972.7 |
| exon_skip_291493 | 17 | 48469758:48469863:48470099:48470258:48472289:48472349 | 48470099:48470258 | ENSG00000108829.9 | ENST00000225972.7 |
| exon_skip_291494 | 17 | 48470099:48470258:48472289:48472349:48474573:48474914 | 48472289:48472349 | ENSG00000108829.9 | ENST00000225972.7 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for LRRC59 |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_291490 | 17 | 48462478:48462652:48465420:48465493:48469758:48469863 | 48465420:48465493 | ENSG00000108829.9 | ENST00000225972.7 |
| exon_skip_291493 | 17 | 48469758:48469863:48470099:48470258:48472289:48472349 | 48470099:48470258 | ENSG00000108829.9 | ENST00000225972.7 |
| exon_skip_291494 | 17 | 48470099:48470258:48472289:48472349:48474573:48474914 | 48472289:48472349 | ENSG00000108829.9 | ENST00000225972.7 |
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 LRRC59 |
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 |
| ENST00000225972 | 48465420 | 48465493 | Frame-shift |
| ENST00000225972 | 48470099 | 48470258 | In-frame |
| ENST00000225972 | 48472289 | 48472349 | 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 |
| ENST00000225972 | 48465420 | 48465493 | Frame-shift |
| ENST00000225972 | 48470099 | 48470258 | In-frame |
| ENST00000225972 | 48472289 | 48472349 | In-frame |
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Infer the effects of exon skipping event on protein functional features for LRRC59 |
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 |
| ENST00000225972 | 2927 | 307 | 48472289 | 48472349 | 342 | 401 | 35 | 55 |
| ENST00000225972 | 2927 | 307 | 48470099 | 48470258 | 402 | 560 | 55 | 108 |
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 |
| ENST00000225972 | 2927 | 307 | 48472289 | 48472349 | 342 | 401 | 35 | 55 |
| ENST00000225972 | 2927 | 307 | 48470099 | 48470258 | 402 | 560 | 55 | 108 |
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 |
| Q96AG4 | 35 | 55 | 1 | 307 | Chain | ID=PRO_0000235159;Note=Leucine-rich repeat-containing protein 59 |
| Q96AG4 | 35 | 55 | 2 | 307 | Chain | ID=PRO_0000441739;Note=Leucine-rich repeat-containing protein 59%2C N-terminally processed |
| Q96AG4 | 35 | 55 | 40 | 62 | Repeat | Note=LRR 2 |
| Q96AG4 | 35 | 55 | 1 | 244 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q96AG4 | 55 | 108 | 1 | 307 | Chain | ID=PRO_0000235159;Note=Leucine-rich repeat-containing protein 59 |
| Q96AG4 | 55 | 108 | 2 | 307 | Chain | ID=PRO_0000441739;Note=Leucine-rich repeat-containing protein 59%2C N-terminally processed |
| Q96AG4 | 55 | 108 | 73 | 73 | Modified residue | Note=N6-succinyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q922Q8 |
| Q96AG4 | 55 | 108 | 40 | 62 | Repeat | Note=LRR 2 |
| Q96AG4 | 55 | 108 | 63 | 84 | Repeat | Note=LRR 3 |
| Q96AG4 | 55 | 108 | 86 | 107 | Repeat | Note=LRR 4 |
| Q96AG4 | 55 | 108 | 1 | 244 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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 |
| Q96AG4 | 35 | 55 | 1 | 307 | Chain | ID=PRO_0000235159;Note=Leucine-rich repeat-containing protein 59 |
| Q96AG4 | 35 | 55 | 2 | 307 | Chain | ID=PRO_0000441739;Note=Leucine-rich repeat-containing protein 59%2C N-terminally processed |
| Q96AG4 | 35 | 55 | 40 | 62 | Repeat | Note=LRR 2 |
| Q96AG4 | 35 | 55 | 1 | 244 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q96AG4 | 55 | 108 | 1 | 307 | Chain | ID=PRO_0000235159;Note=Leucine-rich repeat-containing protein 59 |
| Q96AG4 | 55 | 108 | 2 | 307 | Chain | ID=PRO_0000441739;Note=Leucine-rich repeat-containing protein 59%2C N-terminally processed |
| Q96AG4 | 55 | 108 | 73 | 73 | Modified residue | Note=N6-succinyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q922Q8 |
| Q96AG4 | 55 | 108 | 40 | 62 | Repeat | Note=LRR 2 |
| Q96AG4 | 55 | 108 | 63 | 84 | Repeat | Note=LRR 3 |
| Q96AG4 | 55 | 108 | 86 | 107 | Repeat | Note=LRR 4 |
| Q96AG4 | 55 | 108 | 1 | 244 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for LRRC59 |
- 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 |
| BLCA | TCGA-SY-A9G5-01 | exon_skip_291490 | 48465421 | 48465493 | 48465460 | 48465460 | Nonsense_Mutation | G | A | p.Q155* |
- 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 |
| NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 48465421 | 48465493 | 48465443 | 48465444 | Missense_Mutation | CT | AC | p.Q160R |
| KNS62_LUNG | 48465421 | 48465493 | 48465460 | 48465460 | Missense_Mutation | G | T | p.Q155K |
| RT112_URINARY_TRACT | 48465421 | 48465493 | 48465460 | 48465460 | Missense_Mutation | G | C | p.Q155E |
| HCT15_LARGE_INTESTINE | 48470100 | 48470258 | 48470176 | 48470176 | Missense_Mutation | C | T | p.R83H |
| HCT15_LARGE_INTESTINE | 48472290 | 48472349 | 48472330 | 48472330 | Missense_Mutation | G | A | p.T42I |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for LRRC59 |
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 LRRC59 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for LRRC59 |
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RelatedDrugs for LRRC59 |
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 LRRC59 |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |