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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 UTP18 |
 Gene summary |
| Gene information | Gene symbol | UTP18 | Gene ID | 51096 |
| Gene name | UTP18, small subunit processome component | |
| Synonyms | CGI-48|WDR50 | |
| Cytomap | 17q21.33 | |
| Type of gene | protein-coding | |
| Description | U3 small nucleolar RNA-associated protein 18 homologUTP18, small subunit (SSU) processome component, homologWD repeat domain 50WD repeat-containing protein 50 | |
| Modification date | 20180523 | |
| UniProtAcc | Q9Y5J1 | |
| Context | PubMed: UTP18 [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 UTP18 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 UTP18 |
| 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 UTP18 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_154452 | 17 | 49346197:49346265:49350722:49350811:49353226:49353352 | 49350722:49350811 | ENSG00000011260.9 | ENST00000225298.7 |
| exon_skip_154453 | 17 | 49353228:49353352:49354490:49354665:49357365:49357466 | 49354490:49354665 | ENSG00000011260.9 | ENST00000225298.7 |
| exon_skip_154457 | 17 | 49362628:49362729:49363843:49363913:49365389:49365438 | 49363843:49363913 | ENSG00000011260.9 | ENST00000583725.1 |
| exon_skip_154458 | 17 | 49362628:49362729:49365389:49365564:49371263:49371406 | 49365389:49365564 | ENSG00000011260.9 | ENST00000225298.7 |
| exon_skip_154459 | 17 | 49362628:49362729:49365484:49365564:49371263:49371406 | 49365484:49365564 | ENSG00000011260.9 | ENST00000583205.1 |
| exon_skip_154462 | 17 | 49365484:49365564:49365908:49365952:49374325:49374364 | 49365908:49365952 | ENSG00000011260.9 | ENST00000579261.2 |
| exon_skip_154464 | 17 | 49365484:49365564:49371263:49371406:49374325:49374364 | 49371263:49371406 | ENSG00000011260.9 | ENST00000583205.1,ENST00000225298.7 |
| exon_skip_154467 | 17 | 49371263:49371406:49374325:49374364:49375142:49375239 | 49374325:49374364 | ENSG00000011260.9 | ENST00000583205.1,ENST00000225298.7 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for UTP18 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_154452 | 17 | 49346197:49346265:49350722:49350811:49353226:49353352 | 49350722:49350811 | ENSG00000011260.9 | ENST00000225298.7 |
| exon_skip_154453 | 17 | 49353228:49353352:49354490:49354665:49357365:49357466 | 49354490:49354665 | ENSG00000011260.9 | ENST00000225298.7 |
| exon_skip_154457 | 17 | 49362628:49362729:49363843:49363913:49365389:49365438 | 49363843:49363913 | ENSG00000011260.9 | ENST00000583725.1 |
| exon_skip_154458 | 17 | 49362628:49362729:49365389:49365564:49371263:49371406 | 49365389:49365564 | ENSG00000011260.9 | ENST00000225298.7 |
| exon_skip_154459 | 17 | 49362628:49362729:49365484:49365564:49371263:49371406 | 49365484:49365564 | ENSG00000011260.9 | ENST00000583205.1 |
| exon_skip_154462 | 17 | 49365484:49365564:49365908:49365952:49374325:49374364 | 49365908:49365952 | ENSG00000011260.9 | ENST00000579261.2 |
| exon_skip_154464 | 17 | 49365484:49365564:49371263:49371406:49374325:49374364 | 49371263:49371406 | ENSG00000011260.9 | ENST00000225298.7,ENST00000583205.1 |
| exon_skip_154467 | 17 | 49371263:49371406:49374325:49374364:49375142:49375239 | 49374325:49374364 | ENSG00000011260.9 | ENST00000225298.7,ENST00000583205.1 |
| 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 UTP18 |
| 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 |
| ENST00000225298 | 49374325 | 49374364 | 3UTR-3CDS |
| ENST00000225298 | 49350722 | 49350811 | Frame-shift |
| ENST00000225298 | 49354490 | 49354665 | Frame-shift |
| ENST00000225298 | 49365389 | 49365564 | Frame-shift |
| ENST00000225298 | 49371263 | 49371406 | 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 |
| ENST00000225298 | 49374325 | 49374364 | 3UTR-3CDS |
| ENST00000225298 | 49350722 | 49350811 | Frame-shift |
| ENST00000225298 | 49354490 | 49354665 | Frame-shift |
| ENST00000225298 | 49365389 | 49365564 | Frame-shift |
| ENST00000225298 | 49371263 | 49371406 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for UTP18 |
| 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 UTP18 |
| - 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 |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_154458 | 49365390 | 49365564 | 49365444 | 49365444 | Frame_Shift_Del | A | - | p.T461fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_154458 | 49365390 | 49365564 | 49365534 | 49365534 | Frame_Shift_Del | T | - | p.A491fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_154459 | 49365485 | 49365564 | 49365534 | 49365534 | Frame_Shift_Del | T | - | p.A491fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_154458 | 49365390 | 49365564 | 49365539 | 49365539 | Frame_Shift_Del | A | - | p.E493fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_154459 | 49365485 | 49365564 | 49365539 | 49365539 | Frame_Shift_Del | A | - | p.E493fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_154458 | 49365390 | 49365564 | 49365539 | 49365539 | Frame_Shift_Del | A | - | p.E493fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_154459 | 49365485 | 49365564 | 49365539 | 49365539 | Frame_Shift_Del | A | - | p.E493fs |
| BLCA | TCGA-UY-A9PE-01 | exon_skip_154467 | 49374326 | 49374364 | 49374340 | 49374340 | Nonsense_Mutation | C | G | p.S554* |
| UCEC | TCGA-D1-A16O-01 | exon_skip_154452 | 49350723 | 49350811 | 49350812 | 49350812 | Splice_Site | G | T | p.K237_splice |
| - 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 |
| SNU1040_LARGE_INTESTINE | 49371264 | 49371406 | 49371309 | 49371309 | Frame_Shift_Del | A | - | p.K517fs |
| NCIH2722_PLEURA | 49350723 | 49350811 | 49350788 | 49350788 | Missense_Mutation | T | A | p.S230T |
| NCIH2342_LUNG | 49354491 | 49354665 | 49354660 | 49354660 | Missense_Mutation | T | C | p.V336A |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 49365390 | 49365564 | 49365398 | 49365398 | Missense_Mutation | G | A | p.C446Y |
| SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 49365390 | 49365564 | 49365457 | 49365457 | Missense_Mutation | A | T | p.I466L |
| SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 49365390 | 49365564 | 49365478 | 49365478 | Missense_Mutation | G | A | p.V473I |
| HT1376_URINARY_TRACT | 49371264 | 49371406 | 49371267 | 49371267 | Missense_Mutation | C | T | p.H503Y |
| CAL78_BONE | 49371264 | 49371406 | 49371355 | 49371355 | Missense_Mutation | G | T | p.R532I |
| SNUC4_LARGE_INTESTINE | 49371264 | 49371406 | 49371393 | 49371393 | Missense_Mutation | G | A | p.A545T |
| TGW_AUTONOMIC_GANGLIA | 49374326 | 49374364 | 49374329 | 49374329 | Missense_Mutation | G | T | p.L550F |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for UTP18 |
| 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 UTP18 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for UTP18 |
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RelatedDrugs for UTP18 |
| 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 UTP18 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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