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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 UBA52 |
 Gene summary |
| Gene information | Gene symbol | UBA52 | Gene ID | 7311 |
| Gene name | ubiquitin A-52 residue ribosomal protein fusion product 1 | |
| Synonyms | CEP52|HUBCEP52|L40|RPL40 | |
| Cytomap | 19p13.11 | |
| Type of gene | protein-coding | |
| Description | ubiquitin-60S ribosomal protein L40ubiquitin carboxyl extension protein 52ubiquitin-52 amino acid fusion proteinubiquitin-CEP52 | |
| Modification date | 20180523 | |
| UniProtAcc | P62987 | |
| Context | PubMed: UBA52 [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 UBA52 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 UBA52 |
| 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 UBA52 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_303870 | 19 | 18682664:18682697:18683160:18683417:18684102:18684122 | 18683160:18683417 | ENSG00000221983.3 | ENST00000596273.1 |
| exon_skip_303897 | 19 | 18682684:18682719:18683160:18683417:18684102:18684122 | 18683160:18683417 | ENSG00000221983.3 | ENST00000595683.1 |
| exon_skip_303945 | 19 | 18684185:18684213:18684471:18684558:18685679:18685778 | 18684471:18684558 | ENSG00000221983.3 | ENST00000596304.1,ENST00000598780.1,ENST00000430157.2,ENST00000442744.2,ENST00000594527.1,ENST00000599595.1,ENST00000596272.1,ENST00000595158.1,ENST00000596273.1,ENST00000595683.1,ENST00000597451.1,ENST00000599551.1 |
| exon_skip_303957 | 19 | 18684471:18684558:18685679:18685782:18685866:18685951 | 18685679:18685782 | ENSG00000221983.3 | ENST00000596304.1,ENST00000598780.1,ENST00000430157.2,ENST00000442744.2,ENST00000599595.1,ENST00000595158.1,ENST00000596273.1,ENST00000595683.1,ENST00000597451.1,ENST00000599551.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for UBA52 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_303870 | 19 | 18682664:18682697:18683160:18683417:18684102:18684122 | 18683160:18683417 | ENSG00000221983.3 | ENST00000596273.1 |
| exon_skip_303897 | 19 | 18682684:18682719:18683160:18683417:18684102:18684122 | 18683160:18683417 | ENSG00000221983.3 | ENST00000595683.1 |
| exon_skip_303945 | 19 | 18684185:18684213:18684471:18684558:18685679:18685778 | 18684471:18684558 | ENSG00000221983.3 | ENST00000596304.1,ENST00000430157.2,ENST00000596273.1,ENST00000442744.2,ENST00000595683.1,ENST00000595158.1,ENST00000598780.1,ENST00000599551.1,ENST00000597451.1,ENST00000599595.1,ENST00000596272.1,ENST00000594527.1 |
| exon_skip_303957 | 19 | 18684471:18684558:18685679:18685782:18685866:18685951 | 18685679:18685782 | ENSG00000221983.3 | ENST00000596304.1,ENST00000430157.2,ENST00000596273.1,ENST00000442744.2,ENST00000595683.1,ENST00000595158.1,ENST00000598780.1,ENST00000599551.1,ENST00000597451.1,ENST00000599595.1 |
| 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 UBA52 |
| 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 |
| ENST00000595683 | 18683160 | 18683417 | 5UTR-5UTR |
| ENST00000596273 | 18683160 | 18683417 | 5UTR-5UTR |
| ENST00000430157 | 18685679 | 18685782 | Frame-shift |
| ENST00000442744 | 18685679 | 18685782 | Frame-shift |
| ENST00000595158 | 18685679 | 18685782 | Frame-shift |
| ENST00000595683 | 18685679 | 18685782 | Frame-shift |
| ENST00000596273 | 18685679 | 18685782 | Frame-shift |
| ENST00000596304 | 18685679 | 18685782 | Frame-shift |
| ENST00000597451 | 18685679 | 18685782 | Frame-shift |
| ENST00000598780 | 18685679 | 18685782 | Frame-shift |
| ENST00000599551 | 18685679 | 18685782 | Frame-shift |
| ENST00000599595 | 18685679 | 18685782 | Frame-shift |
| ENST00000430157 | 18684471 | 18684558 | In-frame |
| ENST00000442744 | 18684471 | 18684558 | In-frame |
| ENST00000595158 | 18684471 | 18684558 | In-frame |
| ENST00000595683 | 18684471 | 18684558 | In-frame |
| ENST00000596273 | 18684471 | 18684558 | In-frame |
| ENST00000596304 | 18684471 | 18684558 | In-frame |
| ENST00000597451 | 18684471 | 18684558 | In-frame |
| ENST00000598780 | 18684471 | 18684558 | In-frame |
| ENST00000599551 | 18684471 | 18684558 | In-frame |
| ENST00000599595 | 18684471 | 18684558 | 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 |
| ENST00000595683 | 18683160 | 18683417 | 5UTR-5UTR |
| ENST00000596273 | 18683160 | 18683417 | 5UTR-5UTR |
| ENST00000430157 | 18685679 | 18685782 | Frame-shift |
| ENST00000442744 | 18685679 | 18685782 | Frame-shift |
| ENST00000595158 | 18685679 | 18685782 | Frame-shift |
| ENST00000595683 | 18685679 | 18685782 | Frame-shift |
| ENST00000596273 | 18685679 | 18685782 | Frame-shift |
| ENST00000596304 | 18685679 | 18685782 | Frame-shift |
| ENST00000597451 | 18685679 | 18685782 | Frame-shift |
| ENST00000598780 | 18685679 | 18685782 | Frame-shift |
| ENST00000599551 | 18685679 | 18685782 | Frame-shift |
| ENST00000599595 | 18685679 | 18685782 | Frame-shift |
| ENST00000430157 | 18684471 | 18684558 | In-frame |
| ENST00000442744 | 18684471 | 18684558 | In-frame |
| ENST00000595158 | 18684471 | 18684558 | In-frame |
| ENST00000595683 | 18684471 | 18684558 | In-frame |
| ENST00000596273 | 18684471 | 18684558 | In-frame |
| ENST00000596304 | 18684471 | 18684558 | In-frame |
| ENST00000597451 | 18684471 | 18684558 | In-frame |
| ENST00000598780 | 18684471 | 18684558 | In-frame |
| ENST00000599551 | 18684471 | 18684558 | In-frame |
| ENST00000599595 | 18684471 | 18684558 | In-frame |
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Infer the effects of exon skipping event on protein functional features for UBA52 |
| 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 |
| ENST00000430157 | 589 | 128 | 18684471 | 18684558 | 198 | 284 | 34 | 63 |
| ENST00000442744 | 2862 | 128 | 18684471 | 18684558 | 162 | 248 | 34 | 63 |
| ENST00000595158 | 760 | 128 | 18684471 | 18684558 | 376 | 462 | 34 | 63 |
| ENST00000595683 | 796 | 128 | 18684471 | 18684558 | 404 | 490 | 34 | 63 |
| ENST00000596273 | 781 | 128 | 18684471 | 18684558 | 402 | 488 | 34 | 63 |
| ENST00000596304 | 571 | 128 | 18684471 | 18684558 | 219 | 305 | 34 | 63 |
| ENST00000597451 | 531 | 128 | 18684471 | 18684558 | 140 | 226 | 34 | 63 |
| ENST00000598780 | 685 | 128 | 18684471 | 18684558 | 365 | 451 | 34 | 63 |
| ENST00000599551 | 724 | 128 | 18684471 | 18684558 | 333 | 419 | 34 | 63 |
| ENST00000599595 | 709 | 128 | 18684471 | 18684558 | 120 | 206 | 34 | 63 |
| 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 |
| ENST00000430157 | 589 | 128 | 18684471 | 18684558 | 198 | 284 | 34 | 63 |
| ENST00000442744 | 2862 | 128 | 18684471 | 18684558 | 162 | 248 | 34 | 63 |
| ENST00000595158 | 760 | 128 | 18684471 | 18684558 | 376 | 462 | 34 | 63 |
| ENST00000595683 | 796 | 128 | 18684471 | 18684558 | 404 | 490 | 34 | 63 |
| ENST00000596273 | 781 | 128 | 18684471 | 18684558 | 402 | 488 | 34 | 63 |
| ENST00000596304 | 571 | 128 | 18684471 | 18684558 | 219 | 305 | 34 | 63 |
| ENST00000597451 | 531 | 128 | 18684471 | 18684558 | 140 | 226 | 34 | 63 |
| ENST00000598780 | 685 | 128 | 18684471 | 18684558 | 365 | 451 | 34 | 63 |
| ENST00000599551 | 724 | 128 | 18684471 | 18684558 | 333 | 419 | 34 | 63 |
| ENST00000599595 | 709 | 128 | 18684471 | 18684558 | 120 | 206 | 34 | 63 |
| 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 UBA52 |
| - 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 |
| BLCA | TCGA-K4-A54R-01 | exon_skip_303945 | 18684472 | 18684558 | 18684538 | 18684538 | Nonsense_Mutation | C | G | p.S57* |
| LIHC | TCGA-G3-AAV6-01 | exon_skip_303945 | 18684472 | 18684558 | 18684552 | 18684552 | Nonsense_Mutation | C | T | p.Q62X |
| - 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 |
| NCIH835_LUNG | 18684472 | 18684558 | 18684474 | 18684474 | Missense_Mutation | A | C | p.I36L |
| DOHH2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 18684472 | 18684558 | 18684492 | 18684492 | Missense_Mutation | C | T | p.R42C |
| RKO_LARGE_INTESTINE | 18684472 | 18684558 | 18684507 | 18684507 | Missense_Mutation | G | A | p.G47S |
| SLVL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 18685680 | 18685782 | 18685765 | 18685765 | Missense_Mutation | C | A | p.D92E |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for UBA52 |
| 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_303945 | 19 | 18684185:18684213:18684471:18684558:18685679:18685778 | 18684471:18684558 | ENST00000596304.1,ENST00000598780.1,ENST00000430157.2,ENST00000442744.2,ENST00000594527.1,ENST00000599595.1,ENST00000596272.1,ENST00000595158.1,ENST00000596273.1,ENST00000595683.1,ENST00000597451.1,ENST00000599551.1 | GBM | rs2302055 | chr19:18684563 | C/T | 1.59e-04 |
| exon_skip_303945 | 19 | 18684185:18684213:18684471:18684558:18685679:18685778 | 18684471:18684558 | ENST00000596304.1,ENST00000598780.1,ENST00000430157.2,ENST00000442744.2,ENST00000594527.1,ENST00000599595.1,ENST00000596272.1,ENST00000595158.1,ENST00000596273.1,ENST00000595683.1,ENST00000597451.1,ENST00000599551.1 | BLCA | rs2302055 | chr19:18684563 | C/T | 3.96e-04 |
| exon_skip_303945 | 19 | 18684185:18684213:18684471:18684558:18685679:18685778 | 18684471:18684558 | ENST00000596304.1,ENST00000598780.1,ENST00000430157.2,ENST00000442744.2,ENST00000594527.1,ENST00000599595.1,ENST00000596272.1,ENST00000595158.1,ENST00000596273.1,ENST00000595683.1,ENST00000597451.1,ENST00000599551.1 | KIRC | rs2302055 | chr19:18684563 | C/T | 5.42e-05 |
| exon_skip_303945 | 19 | 18684185:18684213:18684471:18684558:18685679:18685778 | 18684471:18684558 | ENST00000596304.1,ENST00000598780.1,ENST00000430157.2,ENST00000442744.2,ENST00000594527.1,ENST00000599595.1,ENST00000596272.1,ENST00000595158.1,ENST00000596273.1,ENST00000595683.1,ENST00000597451.1,ENST00000599551.1 | OV | rs2302055 | chr19:18684563 | C/T | 2.93e-04 |
| exon_skip_303945 | 19 | 18684185:18684213:18684471:18684558:18685679:18685778 | 18684471:18684558 | ENST00000596304.1,ENST00000598780.1,ENST00000430157.2,ENST00000442744.2,ENST00000594527.1,ENST00000599595.1,ENST00000596272.1,ENST00000595158.1,ENST00000596273.1,ENST00000595683.1,ENST00000597451.1,ENST00000599551.1 | PRAD | rs2302055 | chr19:18684563 | C/T | 3.53e-04 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for UBA52 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for UBA52 |
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RelatedDrugs for UBA52 |
| 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 UBA52 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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