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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 TK1 |
 Gene summary |
| Gene information | Gene symbol | TK1 | Gene ID | 7083 |
| Gene name | thymidine kinase 1 | |
| Synonyms | TK2 | |
| Cytomap | 17q25.3 | |
| Type of gene | protein-coding | |
| Description | thymidine kinase, cytosolicthymidine kinase 1 soluble isoform | |
| Modification date | 20180523 | |
| UniProtAcc | P04183 | |
| Context | PubMed: TK1 [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 TK1 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 TK1 |
| 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 TK1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_293957 | 17 | 76170782:76170869:76171130:76171250:76171609:76171699 | 76171130:76171250 | ENSG00000167900.7 | ENST00000590862.1 |
| exon_skip_293959 | 17 | 76171006:76171031:76171130:76171250:76171609:76171699 | 76171130:76171250 | ENSG00000167900.7 | ENST00000405273.1,ENST00000586613.1,ENST00000301634.7 |
| exon_skip_293961 | 17 | 76171609:76171699:76178669:76178763:76181135:76181241 | 76178669:76178763 | ENSG00000167900.7 | ENST00000405273.1,ENST00000592126.1,ENST00000301634.7,ENST00000588734.1,ENST00000590862.1 |
| exon_skip_293963 | 17 | 76178669:76178763:76179834:76179858:76181135:76181241 | 76179834:76179858 | ENSG00000167900.7 | ENST00000586613.1 |
| exon_skip_293966 | 17 | 76181135:76181246:76182867:76182899:76183009:76183111 | 76182867:76182899 | ENSG00000167900.7 | ENST00000405273.1,ENST00000586613.1,ENST00000588734.1,ENST00000590862.1,ENST00000590430.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for TK1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_293959 | 17 | 76171006:76171031:76171130:76171250:76171609:76171699 | 76171130:76171250 | ENSG00000167900.7 | ENST00000301634.7,ENST00000405273.1,ENST00000586613.1 |
| exon_skip_293961 | 17 | 76171609:76171699:76178669:76178763:76181135:76181241 | 76178669:76178763 | ENSG00000167900.7 | ENST00000301634.7,ENST00000405273.1,ENST00000588734.1,ENST00000590862.1,ENST00000592126.1 |
| exon_skip_293963 | 17 | 76178669:76178763:76179834:76179858:76181135:76181241 | 76179834:76179858 | ENSG00000167900.7 | ENST00000586613.1 |
| 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 TK1 |
| 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 |
| ENST00000301634 | 76178669 | 76178763 | Frame-shift |
| ENST00000301634 | 76171130 | 76171250 | 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 |
| ENST00000301634 | 76178669 | 76178763 | Frame-shift |
| ENST00000301634 | 76171130 | 76171250 | In-frame |
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Infer the effects of exon skipping event on protein functional features for TK1 |
| 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 |
| ENST00000301634 | 1641 | 234 | 76171130 | 76171250 | 633 | 752 | 131 | 171 |
| 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 |
| ENST00000301634 | 1641 | 234 | 76171130 | 76171250 | 633 | 752 | 131 | 171 |
| 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 |
| P04183 | 131 | 171 | 130 | 132 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1W4R |
| P04183 | 131 | 171 | 144 | 148 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1W4R |
| P04183 | 131 | 171 | 158 | 160 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1W4R |
| P04183 | 131 | 171 | 162 | 167 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1W4R |
| P04183 | 131 | 171 | 2 | 234 | Chain | ID=PRO_0000174948;Note=Thymidine kinase%2C cytosolic |
| P04183 | 131 | 171 | 136 | 142 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1W4R |
| P04183 | 131 | 171 | 153 | 153 | Metal binding | Note=Zinc;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:1W4R,ECO:0000244|PDB:1XBT,ECO:0000244|PDB:2ORV,ECO:0000244|PDB:2WVJ,ECO:0000269|PubMed:15611477,ECO:0000269|Pu |
| P04183 | 131 | 171 | 156 | 156 | Metal binding | Note=Zinc;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:1W4R,ECO:0000244|PDB:1XBT,ECO:0000244|PDB:2ORV,ECO:0000244|PDB:2WVJ,ECO:0000269|PubMed:15611477,ECO:0000269|Pu |
| P04183 | 131 | 171 | 163 | 163 | Mutagenesis | Note=140-fold lower K(m) for AZT. T->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22385435;Dbxref=PMID:22385435 |
| P04183 | 131 | 171 | 154 | 156 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1W4R |
| 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 |
| P04183 | 131 | 171 | 130 | 132 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1W4R |
| P04183 | 131 | 171 | 144 | 148 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1W4R |
| P04183 | 131 | 171 | 158 | 160 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1W4R |
| P04183 | 131 | 171 | 162 | 167 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1W4R |
| P04183 | 131 | 171 | 2 | 234 | Chain | ID=PRO_0000174948;Note=Thymidine kinase%2C cytosolic |
| P04183 | 131 | 171 | 136 | 142 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1W4R |
| P04183 | 131 | 171 | 153 | 153 | Metal binding | Note=Zinc;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:1W4R,ECO:0000244|PDB:1XBT,ECO:0000244|PDB:2ORV,ECO:0000244|PDB:2WVJ,ECO:0000269|PubMed:15611477,ECO:0000269|Pu |
| P04183 | 131 | 171 | 156 | 156 | Metal binding | Note=Zinc;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:1W4R,ECO:0000244|PDB:1XBT,ECO:0000244|PDB:2ORV,ECO:0000244|PDB:2WVJ,ECO:0000269|PubMed:15611477,ECO:0000269|Pu |
| P04183 | 131 | 171 | 163 | 163 | Mutagenesis | Note=140-fold lower K(m) for AZT. T->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22385435;Dbxref=PMID:22385435 |
| P04183 | 131 | 171 | 154 | 156 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1W4R |
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SNVs in the skipped exons for TK1 |
| - 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 |
| UCS | TCGA-ND-A4WA-01 | exon_skip_293959 exon_skip_293957 | 76171131 | 76171250 | 76171208 | 76171209 | Frame_Shift_Del | CG | - | p.146_146del |
| UCS | TCGA-ND-A4WA-01 | exon_skip_293959 exon_skip_293957 | 76171131 | 76171250 | 76171208 | 76171209 | Frame_Shift_Del | CG | - | p.SV145fs |
| - 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 |
| HEC1A_ENDOMETRIUM | 76178670 | 76178763 | 76178749 | 76178749 | Missense_Mutation | G | A | p.A75V |
| HEC1B_ENDOMETRIUM | 76178670 | 76178763 | 76178749 | 76178749 | Missense_Mutation | G | A | p.A75V |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 76171131 | 76171250 | 76171132 | 76171132 | Splice_Site | T | C | p.E171G |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TK1 |
| 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 TK1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TK1 |
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RelatedDrugs for TK1 |
| 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 TK1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| TK1 | C0009404 | Colorectal Neoplasms | 1 | CTD_human |
| TK1 | C0023904 | Liver Neoplasms, Experimental | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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