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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 UCK1 |
 Gene summary |
| Gene information | Gene symbol | UCK1 | Gene ID | 83549 |
| Gene name | uridine-cytidine kinase 1 | |
| Synonyms | URK1 | |
| Cytomap | 9q34.13 | |
| Type of gene | protein-coding | |
| Description | uridine-cytidine kinase 1cytidine monophosphokinase 1uridine monophosphokinase 1 | |
| Modification date | 20180523 | |
| UniProtAcc | Q9HA47 | |
| Context | PubMed: UCK1 [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 UCK1 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 UCK1 |
| 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 UCK1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_507774 | 9 | 134400534:134400608:134401315:134401364:134404330:134404425 | 134401315:134401364 | ENSG00000130717.8 | ENST00000372215.4,ENST00000372210.3,ENST00000372211.3,ENST00000494584.1 |
| exon_skip_507775 | 9 | 134401331:134401364:134401831:134401890:134404330:134404425 | 134401831:134401890 | ENSG00000130717.8 | ENST00000491309.1 |
| exon_skip_507778 | 9 | 134401331:134401364:134404330:134404425:134404514:134404544 | 134404330:134404425 | ENSG00000130717.8 | ENST00000372215.4,ENST00000372210.3,ENST00000372211.3,ENST00000494584.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for UCK1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_507775 | 9 | 134401331:134401364:134401831:134401890:134404330:134404425 | 134401831:134401890 | ENSG00000130717.8 | ENST00000491309.1 |
| exon_skip_507778 | 9 | 134401331:134401364:134404330:134404425:134404514:134404544 | 134404330:134404425 | ENSG00000130717.8 | ENST00000372210.3,ENST00000372211.3,ENST00000372215.4,ENST00000494584.1 |
| 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 UCK1 |
| 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 |
| ENST00000372215 | 134401315 | 134401364 | Frame-shift |
| ENST00000372215 | 134404330 | 134404425 | 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 |
| ENST00000372215 | 134404330 | 134404425 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for UCK1 |
| 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 UCK1 |
| - 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. |
UCK1_LGG_exon_skip_507778_psi_boxplot.png |
| - 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 |
| LGG | TCGA-VM-A8C8-01 | exon_skip_507778 | 134404331 | 134404425 | 134404363 | 134404363 | Frame_Shift_Del | C | - | p.V191fs |
| CESC | TCGA-C5-A7X3-01 | exon_skip_507778 | 134404331 | 134404425 | 134404408 | 134404408 | Nonsense_Mutation | G | A | p.R181* |
| STAD | TCGA-BR-8680-01 | exon_skip_507774 | 134401316 | 134401364 | 134401365 | 134401365 | Splice_Site | C | T | . |
| STAD | TCGA-BR-8680-01 | exon_skip_507774 | 134401316 | 134401364 | 134401365 | 134401365 | Splice_Site | C | T | p.T202_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-VM-A8C8-01 |
| Cancer type: LGG | |
| ESID: exon_skip_507778 | |
| Skipped exon start: 134404331 | |
| Skipped exon end: 134404425 | |
| Mutation start: 134404363 | |
| Mutation end: 134404363 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.V191fs | |
exon_skip_507778_LGG_TCGA-VM-A8C8-01.png | |
| - 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 |
| HS274T_BREAST | 134401316 | 134401364 | 134401333 | 134401333 | Missense_Mutation | C | T | p.R212Q |
| NCIH1563_LUNG | 134404331 | 134404425 | 134404369 | 134404369 | Missense_Mutation | T | G | p.T189P |
| NTERA2CLD1_TESTIS | 134404331 | 134404425 | 134404417 | 134404417 | Missense_Mutation | C | T | p.D173N |
| SN12C_KIDNEY | 134404331 | 134404425 | 134404420 | 134404420 | Missense_Mutation | G | A | p.R172W |
| SNU1040_LARGE_INTESTINE | 134401316 | 134401364 | 134401334 | 134401334 | Nonsense_Mutation | G | A | p.R212* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for UCK1 |
| 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 UCK1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for UCK1 |
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RelatedDrugs for UCK1 |
| 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 UCK1 |
| 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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