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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 TESK2 |
 Gene summary |
| Gene information | Gene symbol | TESK2 | Gene ID | 10420 |
| Gene name | testis associated actin remodelling kinase 2 | |
| Synonyms | - | |
| Cytomap | 1p34.1 | |
| Type of gene | protein-coding | |
| Description | dual specificity testis-specific protein kinase 2testicular protein kinase 2testis-specific kinase 2 | |
| Modification date | 20180519 | |
| UniProtAcc | Q96S53 | |
| Context | PubMed: TESK2 [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 TESK2 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 TESK2 |
| 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 TESK2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_26153 | 1 | 45809970:45811230:45811548:45811666:45812364:45812451 | 45811548:45811666 | ENSG00000070759.12 | ENST00000538496.1,ENST00000486676.1,ENST00000372086.3 |
| exon_skip_26154 | 1 | 45809970:45811230:45811548:45811666:45812650:45812734 | 45811548:45811666 | ENSG00000070759.12 | ENST00000372084.1,ENST00000341771.6 |
| exon_skip_26157 | 1 | 45811548:45811666:45812364:45812451:45812650:45812730 | 45812364:45812451 | ENSG00000070759.12 | ENST00000538496.1,ENST00000486676.1,ENST00000372086.3 |
| exon_skip_26160 | 1 | 45812364:45812451:45812650:45812734:45813280:45813365 | 45812650:45812734 | ENSG00000070759.12 | ENST00000538496.1,ENST00000486676.1,ENST00000372086.3 |
| exon_skip_26162 | 1 | 45812650:45812734:45813280:45813365:45813589:45813672 | 45813280:45813365 | ENSG00000070759.12 | ENST00000538496.1,ENST00000486676.1,ENST00000372084.1,ENST00000372086.3,ENST00000341771.6 |
| exon_skip_26163 | 1 | 45813280:45813365:45813589:45813672:45820974:45821121 | 45813589:45813672 | ENSG00000070759.12 | ENST00000538496.1,ENST00000486676.1,ENST00000372084.1,ENST00000372086.3,ENST00000341771.6 |
| exon_skip_26165 | 1 | 45813589:45813672:45820974:45821121:45851583:45851632 | 45820974:45821121 | ENSG00000070759.12 | ENST00000538496.1,ENST00000372084.1,ENST00000372086.3,ENST00000341771.6 |
| exon_skip_26166 | 1 | 45813589:45813672:45820974:45821121:45887396:45887518 | 45820974:45821121 | ENSG00000070759.12 | ENST00000486676.1 |
| exon_skip_26173 | 1 | 45820974:45821121:45851583:45851632:45887396:45887518 | 45851583:45851632 | ENSG00000070759.12 | ENST00000538496.1,ENST00000372084.1,ENST00000372086.3,ENST00000341771.6 |
| exon_skip_26175 | 1 | 45864585:45864652:45879438:45879542:45887396:45887518 | 45879438:45879542 | ENSG00000070759.12 | ENST00000451835.2 |
| exon_skip_26176 | 1 | 45887396:45887518:45923235:45923543:45956523:45956815 | 45923235:45923543 | ENSG00000070759.12 | ENST00000451835.2,ENST00000486676.1,ENST00000372086.3,ENST00000341771.6 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for TESK2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_26153 | 1 | 45809970:45811230:45811548:45811666:45812364:45812451 | 45811548:45811666 | ENSG00000070759.12 | ENST00000372086.3,ENST00000486676.1,ENST00000538496.1 |
| exon_skip_26154 | 1 | 45809970:45811230:45811548:45811666:45812650:45812734 | 45811548:45811666 | ENSG00000070759.12 | ENST00000372084.1,ENST00000341771.6 |
| exon_skip_26157 | 1 | 45811548:45811666:45812364:45812451:45812650:45812730 | 45812364:45812451 | ENSG00000070759.12 | ENST00000372086.3,ENST00000486676.1,ENST00000538496.1 |
| exon_skip_26160 | 1 | 45812364:45812451:45812650:45812734:45813280:45813365 | 45812650:45812734 | ENSG00000070759.12 | ENST00000372086.3,ENST00000486676.1,ENST00000538496.1 |
| exon_skip_26162 | 1 | 45812650:45812734:45813280:45813365:45813589:45813672 | 45813280:45813365 | ENSG00000070759.12 | ENST00000372084.1,ENST00000372086.3,ENST00000341771.6,ENST00000486676.1,ENST00000538496.1 |
| exon_skip_26163 | 1 | 45813280:45813365:45813589:45813672:45820974:45821121 | 45813589:45813672 | ENSG00000070759.12 | ENST00000372084.1,ENST00000372086.3,ENST00000341771.6,ENST00000486676.1,ENST00000538496.1 |
| exon_skip_26165 | 1 | 45813589:45813672:45820974:45821121:45851583:45851632 | 45820974:45821121 | ENSG00000070759.12 | ENST00000372084.1,ENST00000372086.3,ENST00000341771.6,ENST00000538496.1 |
| exon_skip_26166 | 1 | 45813589:45813672:45820974:45821121:45887396:45887518 | 45820974:45821121 | ENSG00000070759.12 | ENST00000486676.1 |
| exon_skip_26173 | 1 | 45820974:45821121:45851583:45851632:45887396:45887518 | 45851583:45851632 | ENSG00000070759.12 | ENST00000372084.1,ENST00000372086.3,ENST00000341771.6,ENST00000538496.1 |
| exon_skip_26175 | 1 | 45864585:45864652:45879438:45879542:45887396:45887518 | 45879438:45879542 | ENSG00000070759.12 | ENST00000451835.2 |
| exon_skip_26176 | 1 | 45887396:45887518:45923235:45923543:45956523:45956815 | 45923235:45923543 | ENSG00000070759.12 | ENST00000372086.3,ENST00000341771.6,ENST00000486676.1,ENST00000451835.2 |
| 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 TESK2 |
| 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 |
| ENST00000372086 | 45923235 | 45923543 | 3UTR-3CDS |
| ENST00000372086 | 45811548 | 45811666 | Frame-shift |
| ENST00000372086 | 45813280 | 45813365 | Frame-shift |
| ENST00000372086 | 45813589 | 45813672 | Frame-shift |
| ENST00000372086 | 45851583 | 45851632 | Frame-shift |
| ENST00000372086 | 45812364 | 45812451 | In-frame |
| ENST00000372086 | 45812650 | 45812734 | In-frame |
| ENST00000372086 | 45820974 | 45821121 | 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 |
| ENST00000372086 | 45923235 | 45923543 | 3UTR-3CDS |
| ENST00000372086 | 45811548 | 45811666 | Frame-shift |
| ENST00000372086 | 45813280 | 45813365 | Frame-shift |
| ENST00000372086 | 45813589 | 45813672 | Frame-shift |
| ENST00000372086 | 45851583 | 45851632 | Frame-shift |
| ENST00000372086 | 45812364 | 45812451 | In-frame |
| ENST00000372086 | 45812650 | 45812734 | In-frame |
| ENST00000372086 | 45820974 | 45821121 | In-frame |
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Infer the effects of exon skipping event on protein functional features for TESK2 |
| 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 |
| ENST00000372086 | 3091 | 571 | 45820974 | 45821121 | 795 | 941 | 131 | 180 |
| ENST00000372086 | 3091 | 571 | 45812650 | 45812734 | 1110 | 1193 | 236 | 264 |
| ENST00000372086 | 3091 | 571 | 45812364 | 45812451 | 1194 | 1280 | 264 | 293 |
| 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 |
| ENST00000372086 | 3091 | 571 | 45820974 | 45821121 | 795 | 941 | 131 | 180 |
| ENST00000372086 | 3091 | 571 | 45812650 | 45812734 | 1110 | 1193 | 236 | 264 |
| ENST00000372086 | 3091 | 571 | 45812364 | 45812451 | 1194 | 1280 | 264 | 293 |
| 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 |
| Q96S53 | 131 | 180 | 176 | 176 | Active site | Note=Proton acceptor;Ontology_term=ECO:0000255,ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159,ECO:0000255|PROSITE-ProRule:PRU10028 |
| Q96S53 | 131 | 180 | 116 | 131 | Alternative sequence | ID=VSP_004930;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10512679;Dbxref=PMID:10512679 |
| Q96S53 | 131 | 180 | 1 | 571 | Chain | ID=PRO_0000086749;Note=Dual specificity testis-specific protein kinase 2 |
| Q96S53 | 131 | 180 | 58 | 313 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| Q96S53 | 236 | 264 | 1 | 571 | Chain | ID=PRO_0000086749;Note=Dual specificity testis-specific protein kinase 2 |
| Q96S53 | 236 | 264 | 58 | 313 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| Q96S53 | 264 | 293 | 265 | 293 | Alternative sequence | ID=VSP_004931;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q96S53 | 264 | 293 | 1 | 571 | Chain | ID=PRO_0000086749;Note=Dual specificity testis-specific protein kinase 2 |
| Q96S53 | 264 | 293 | 58 | 313 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| 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 |
| Q96S53 | 131 | 180 | 176 | 176 | Active site | Note=Proton acceptor;Ontology_term=ECO:0000255,ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159,ECO:0000255|PROSITE-ProRule:PRU10028 |
| Q96S53 | 131 | 180 | 116 | 131 | Alternative sequence | ID=VSP_004930;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10512679;Dbxref=PMID:10512679 |
| Q96S53 | 131 | 180 | 1 | 571 | Chain | ID=PRO_0000086749;Note=Dual specificity testis-specific protein kinase 2 |
| Q96S53 | 131 | 180 | 58 | 313 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| Q96S53 | 236 | 264 | 1 | 571 | Chain | ID=PRO_0000086749;Note=Dual specificity testis-specific protein kinase 2 |
| Q96S53 | 236 | 264 | 58 | 313 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| Q96S53 | 264 | 293 | 265 | 293 | Alternative sequence | ID=VSP_004931;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q96S53 | 264 | 293 | 1 | 571 | Chain | ID=PRO_0000086749;Note=Dual specificity testis-specific protein kinase 2 |
| Q96S53 | 264 | 293 | 58 | 313 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
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SNVs in the skipped exons for TESK2 |
| - 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-A39Y-01 | exon_skip_26154 exon_skip_26153 | 45811549 | 45811666 | 45811576 | 45811576 | Frame_Shift_Del | C | - | p.D324fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_26163 | 45813590 | 45813672 | 45813598 | 45813598 | Frame_Shift_Del | G | - | p.P205fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_26163 | 45813590 | 45813672 | 45813619 | 45813619 | Frame_Shift_Del | A | - | p.F198fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_26176 | 45923236 | 45923543 | 45923307 | 45923307 | Frame_Shift_Del | A | - | p.S51fs |
| SKCM | TCGA-FS-A1ZC-06 | exon_skip_26162 | 45813281 | 45813365 | 45813304 | 45813304 | Nonsense_Mutation | G | A | p.R229* |
| SKCM | TCGA-FS-A1ZC-06 | exon_skip_26162 | 45813281 | 45813365 | 45813304 | 45813304 | Nonsense_Mutation | G | A | p.R229X |
| READ | TCGA-EI-6917-01 | exon_skip_26176 | 45923236 | 45923543 | 45923328 | 45923328 | Nonsense_Mutation | G | A | p.R44X |
| COAD | TCGA-CA-6717-01 | exon_skip_26157 | 45812365 | 45812451 | 45812452 | 45812452 | Splice_Site | C | A | . |
| STAD | TCGA-BR-8078-01 | exon_skip_26173 | 45851584 | 45851632 | 45851582 | 45851582 | Splice_Site | A | G | . |
| STAD | TCGA-BR-8078-01 | exon_skip_26173 | 45851584 | 45851632 | 45851582 | 45851582 | Splice_Site | A | G | p.E131_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 |
| 2313287_STOMACH | 45811549 | 45811666 | 45811650 | 45811650 | Missense_Mutation | C | T | p.R299H |
| SNU1040_LARGE_INTESTINE | 45811549 | 45811666 | 45811651 | 45811651 | Missense_Mutation | G | A | p.R299C |
| SIHA_CERVIX | 45812365 | 45812451 | 45812448 | 45812448 | Missense_Mutation | A | T | p.F266I |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 45812651 | 45812734 | 45812692 | 45812692 | Missense_Mutation | C | T | p.A251T |
| SW684_SOFT_TISSUE | 45813590 | 45813672 | 45813609 | 45813609 | Missense_Mutation | C | T | p.E202K |
| CASKI_CERVIX | 45923236 | 45923543 | 45923239 | 45923239 | Missense_Mutation | G | C | p.F73L |
| RXF393_KIDNEY | 45923236 | 45923543 | 45923297 | 45923297 | Missense_Mutation | G | A | p.T54M |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 45923236 | 45923543 | 45923303 | 45923303 | Missense_Mutation | C | T | p.R52K |
| OVK18_OVARY | 45923236 | 45923543 | 45923406 | 45923406 | Missense_Mutation | G | A | p.R18C |
| HCC1599_BREAST | 45923236 | 45923543 | 45923426 | 45923426 | Missense_Mutation | C | G | p.G11A |
| UBLC1_URINARY_TRACT | 45813281 | 45813365 | 45813304 | 45813304 | Nonsense_Mutation | G | A | p.R229* |
| JHU028_LUNG | 45923236 | 45923543 | 45923388 | 45923388 | Nonsense_Mutation | C | A | p.G24* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TESK2 |
| 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 TESK2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TESK2 |
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RelatedDrugs for TESK2 |
| 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 TESK2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| TESK2 | C0001973 | Alcoholic Intoxication, Chronic | 1 | PSYGENET |
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