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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 CMPK1 |
 Gene summary |
| Gene information | Gene symbol | CMPK1 | Gene ID | 51727 |
| Gene name | cytidine/uridine monophosphate kinase 1 | |
| Synonyms | CK|CMK|CMPK|UMK|UMP-CMPK|UMPK | |
| Cytomap | 1p33 | |
| Type of gene | protein-coding | |
| Description | UMP-CMP kinaseUMP/CMP kinasecytidine monophosphate (UMP-CMP) kinase 1, cytosoliccytidylate kinasedCMP kinasedeoxycytidylate kinasenucleoside-diphosphate kinaseuridine monophosphate kinaseuridine monophosphate/cytidine monophosphate kinase | |
| Modification date | 20180519 | |
| UniProtAcc | P30085 | |
| Context | PubMed: CMPK1 [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 |
| CMPK1 | GO:0006165 | nucleoside diphosphate phosphorylation | 23416111 |
| CMPK1 | GO:0009142 | nucleoside triphosphate biosynthetic process | 23416111 |
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Exon skipping events across known transcript of Ensembl for CMPK1 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 CMPK1 |
| 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 CMPK1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_6347 | 1 | 47799612:47799788:47834140:47834287:47838626:47838743 | 47834140:47834287 | ENSG00000162368.9 | ENST00000371871.4,ENST00000371870.3 |
| exon_skip_6351 | 1 | 47834140:47834287:47838626:47838779:47840580:47840657 | 47838626:47838779 | ENSG00000162368.9 | ENST00000371873.5 |
| exon_skip_6353 | 1 | 47838626:47838779:47840580:47840657:47840868:47840965 | 47840580:47840657 | ENSG00000162368.9 | ENST00000450808.2,ENST00000371873.5 |
| exon_skip_6356 | 1 | 47838626:47838779:47840868:47840965:47842375:47842795 | 47840868:47840965 | ENSG00000162368.9 | ENST00000371871.4 |
| exon_skip_6358 | 1 | 47840580:47840657:47840868:47840965:47842375:47842795 | 47840868:47840965 | ENSG00000162368.9 | ENST00000450808.2,ENST00000371873.5 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CMPK1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_6347 | 1 | 47799612:47799788:47834140:47834287:47838626:47838743 | 47834140:47834287 | ENSG00000162368.9 | ENST00000371871.4,ENST00000371870.3 |
| exon_skip_6351 | 1 | 47834140:47834287:47838626:47838779:47840580:47840657 | 47838626:47838779 | ENSG00000162368.9 | ENST00000371873.5 |
| exon_skip_6353 | 1 | 47838626:47838779:47840580:47840657:47840868:47840965 | 47840580:47840657 | ENSG00000162368.9 | ENST00000371873.5,ENST00000450808.2 |
| exon_skip_6356 | 1 | 47838626:47838779:47840868:47840965:47842375:47842795 | 47840868:47840965 | ENSG00000162368.9 | ENST00000371871.4 |
| exon_skip_6358 | 1 | 47840580:47840657:47840868:47840965:47842375:47842795 | 47840868:47840965 | ENSG00000162368.9 | ENST00000371873.5,ENST00000450808.2 |
| 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 CMPK1 |
| 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 |
| ENST00000371873 | 47840580 | 47840657 | Frame-shift |
| ENST00000450808 | 47840580 | 47840657 | Frame-shift |
| ENST00000371873 | 47840868 | 47840965 | Frame-shift |
| ENST00000450808 | 47840868 | 47840965 | Frame-shift |
| ENST00000371873 | 47838626 | 47838779 | 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 |
| ENST00000371873 | 47840580 | 47840657 | Frame-shift |
| ENST00000450808 | 47840580 | 47840657 | Frame-shift |
| ENST00000371873 | 47840868 | 47840965 | Frame-shift |
| ENST00000450808 | 47840868 | 47840965 | Frame-shift |
| ENST00000371873 | 47838626 | 47838779 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CMPK1 |
| 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 |
| ENST00000371873 | 2947 | 196 | 47838626 | 47838779 | 468 | 620 | 106 | 157 |
| 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 |
| ENST00000371873 | 2947 | 196 | 47838626 | 47838779 | 468 | 620 | 106 | 157 |
| 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 |
| P30085 | 106 | 157 | 113 | 121 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1TEV |
| P30085 | 106 | 157 | 134 | 134 | Binding site | Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255|HAMAP-Rule:MF_03172 |
| P30085 | 106 | 157 | 140 | 140 | Binding site | Note=NMP;Ontology_term=ECO:0000255;evidence=ECO:0000255|HAMAP-Rule:MF_03172 |
| P30085 | 106 | 157 | 151 | 151 | Binding site | Note=NMP;Ontology_term=ECO:0000255;evidence=ECO:0000255|HAMAP-Rule:MF_03172 |
| P30085 | 106 | 157 | 1 | 196 | Chain | ID=PRO_0000158949;Note=UMP-CMP kinase |
| P30085 | 106 | 157 | 98 | 108 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1TEV |
| P30085 | 106 | 157 | 124 | 136 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1TEV |
| P30085 | 106 | 157 | 145 | 168 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1TEV |
| P30085 | 106 | 157 | 106 | 106 | Modified residue | Note=N6-succinyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9DBP5 |
| P30085 | 106 | 157 | 133 | 143 | Region | Note=LID;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15163660;Dbxref=PMID:15163660 |
| P30085 | 106 | 157 | 109 | 111 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1TEV |
| 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 |
| P30085 | 106 | 157 | 113 | 121 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1TEV |
| P30085 | 106 | 157 | 134 | 134 | Binding site | Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255|HAMAP-Rule:MF_03172 |
| P30085 | 106 | 157 | 140 | 140 | Binding site | Note=NMP;Ontology_term=ECO:0000255;evidence=ECO:0000255|HAMAP-Rule:MF_03172 |
| P30085 | 106 | 157 | 151 | 151 | Binding site | Note=NMP;Ontology_term=ECO:0000255;evidence=ECO:0000255|HAMAP-Rule:MF_03172 |
| P30085 | 106 | 157 | 1 | 196 | Chain | ID=PRO_0000158949;Note=UMP-CMP kinase |
| P30085 | 106 | 157 | 98 | 108 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1TEV |
| P30085 | 106 | 157 | 124 | 136 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1TEV |
| P30085 | 106 | 157 | 145 | 168 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1TEV |
| P30085 | 106 | 157 | 106 | 106 | Modified residue | Note=N6-succinyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9DBP5 |
| P30085 | 106 | 157 | 133 | 143 | Region | Note=LID;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15163660;Dbxref=PMID:15163660 |
| P30085 | 106 | 157 | 109 | 111 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1TEV |
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SNVs in the skipped exons for CMPK1 |
| - 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 |
| STAD | TCGA-IN-7808-01 | exon_skip_6347 | 47834141 | 47834287 | 47834142 | 47834143 | Frame_Shift_Ins | - | AT | p.K58fs |
| STAD | TCGA-IN-7808-01 | exon_skip_6347 | 47834141 | 47834287 | 47834143 | 47834144 | Frame_Shift_Ins | - | AT | p.K58fs |
| STAD | TCGA-VQ-A8P2-01 | exon_skip_6351 | 47838627 | 47838779 | 47838758 | 47838759 | Frame_Shift_Ins | - | T | p.L150fs |
| STAD | TCGA-VQ-A8P2-01 | exon_skip_6351 | 47838627 | 47838779 | 47838758 | 47838759 | Frame_Shift_Ins | - | T | p.LF150fs |
| BLCA | TCGA-GC-A3OO-01 | exon_skip_6358 exon_skip_6356 | 47840869 | 47840965 | 47840885 | 47840885 | Nonsense_Mutation | C | T | p.Q189* |
| HNSC | TCGA-CR-6481-01 | exon_skip_6358 exon_skip_6356 | 47840869 | 47840965 | 47840885 | 47840885 | Nonsense_Mutation | C | T | p.Q189* |
| - 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 |
| SW1463_LARGE_INTESTINE | 47834141 | 47834287 | 47834154 | 47834154 | Missense_Mutation | C | A | p.T62K |
| KMS12BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 47834141 | 47834287 | 47834198 | 47834198 | Missense_Mutation | C | G | p.P77A |
| GP2D_LARGE_INTESTINE | 47838627 | 47838779 | 47838634 | 47838634 | Missense_Mutation | A | T | p.D109V |
| GP5D_LARGE_INTESTINE | 47838627 | 47838779 | 47838634 | 47838634 | Missense_Mutation | A | T | p.D109V |
| HCT15_LARGE_INTESTINE | 47838627 | 47838779 | 47838654 | 47838654 | Missense_Mutation | G | A | p.A116T |
| LN229_CENTRAL_NERVOUS_SYSTEM | 47838627 | 47838779 | 47838662 | 47838662 | Missense_Mutation | G | T | p.K118N |
| COLO668_LUNG | 47838627 | 47838779 | 47838674 | 47838674 | Missense_Mutation | G | C | p.L122F |
| HEC59_ENDOMETRIUM | 47838627 | 47838779 | 47838711 | 47838711 | Missense_Mutation | G | A | p.G135R |
| EN_ENDOMETRIUM | 47838627 | 47838779 | 47838717 | 47838717 | Missense_Mutation | A | G | p.N137D |
| JHUEM2_ENDOMETRIUM | 47838627 | 47838779 | 47838744 | 47838744 | Missense_Mutation | G | A | p.V146I |
| HAL01_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 47838627 | 47838779 | 47838744 | 47838744 | Missense_Mutation | G | A | p.V146I |
| LNCAPCLONEFGC_PROSTATE | 47838627 | 47838779 | 47838756 | 47838756 | Missense_Mutation | C | A | p.L150I |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 47840869 | 47840965 | 47840885 | 47840885 | Missense_Mutation | C | G | p.Q189E |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CMPK1 |
| 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 CMPK1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CMPK1 |
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RelatedDrugs for CMPK1 |
| 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 |
| P30085 | DB00441 | Gemcitabine | UMP-CMP kinase {ECO:0000255|HAMAP-Rule:MF_03172} | small molecule | approved |
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RelatedDiseases for CMPK1 |
| 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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