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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 TESK1 |
 Gene summary |
| Gene information | Gene symbol | TESK1 | Gene ID | 7016 |
| Gene name | testis associated actin remodelling kinase 1 | |
| Synonyms | - | |
| Cytomap | 9p13.3 | |
| Type of gene | protein-coding | |
| Description | dual specificity testis-specific protein kinase 1testicular protein kinase 1testis-specific kinase 1 | |
| Modification date | 20180522 | |
| UniProtAcc | Q15569 | |
| Context | PubMed: TESK1 [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 TESK1 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 TESK1 |
| 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 TESK1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_495682 | 9 | 35606233:35606282:35606833:35606980:35607323:35607406 | 35606833:35606980 | ENSG00000107140.11 | ENST00000336395.5 |
| exon_skip_495683 | 9 | 35606233:35606282:35606833:35606980:35607578:35607669 | 35606833:35606980 | ENSG00000107140.11 | ENST00000498522.1 |
| exon_skip_495687 | 9 | 35606833:35606980:35607323:35607406:35607578:35607669 | 35607323:35607406 | ENSG00000107140.11 | ENST00000336395.5 |
| exon_skip_495691 | 9 | 35607323:35607406:35607578:35607669:35607924:35608008 | 35607578:35607669 | ENSG00000107140.11 | ENST00000467424.1,ENST00000336395.5 |
| exon_skip_495692 | 9 | 35607578:35607669:35607924:35608008:35608156:35608224 | 35607924:35608008 | ENSG00000107140.11 | ENST00000467424.1,ENST00000463897.1,ENST00000498522.1,ENST00000336395.5 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for TESK1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_495682 | 9 | 35606233:35606282:35606833:35606980:35607323:35607406 | 35606833:35606980 | ENSG00000107140.11 | ENST00000336395.5 |
| exon_skip_495683 | 9 | 35606233:35606282:35606833:35606980:35607578:35607669 | 35606833:35606980 | ENSG00000107140.11 | ENST00000498522.1 |
| exon_skip_495687 | 9 | 35606833:35606980:35607323:35607406:35607578:35607669 | 35607323:35607406 | ENSG00000107140.11 | ENST00000336395.5 |
| exon_skip_495691 | 9 | 35607323:35607406:35607578:35607669:35607924:35608008 | 35607578:35607669 | ENSG00000107140.11 | ENST00000336395.5,ENST00000467424.1 |
| exon_skip_495692 | 9 | 35607578:35607669:35607924:35608008:35608156:35608224 | 35607924:35608008 | ENSG00000107140.11 | ENST00000336395.5,ENST00000498522.1,ENST00000467424.1,ENST00000463897.1 |
| 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 TESK1 |
| 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 |
| ENST00000336395 | 35607323 | 35607406 | Frame-shift |
| ENST00000336395 | 35607578 | 35607669 | Frame-shift |
| ENST00000336395 | 35606833 | 35606980 | In-frame |
| ENST00000336395 | 35607924 | 35608008 | 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 |
| ENST00000336395 | 35607323 | 35607406 | Frame-shift |
| ENST00000336395 | 35607578 | 35607669 | Frame-shift |
| ENST00000336395 | 35606833 | 35606980 | In-frame |
| ENST00000336395 | 35607924 | 35608008 | In-frame |
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Infer the effects of exon skipping event on protein functional features for TESK1 |
| 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 |
| ENST00000336395 | 2438 | 626 | 35606833 | 35606980 | 641 | 787 | 130 | 179 |
| ENST00000336395 | 2438 | 626 | 35607924 | 35608008 | 962 | 1045 | 237 | 265 |
| 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 |
| ENST00000336395 | 2438 | 626 | 35606833 | 35606980 | 641 | 787 | 130 | 179 |
| ENST00000336395 | 2438 | 626 | 35607924 | 35608008 | 962 | 1045 | 237 | 265 |
| 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 |
| Q15569 | 130 | 179 | 175 | 175 | Active site | Note=Proton acceptor;Ontology_term=ECO:0000255,ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159,ECO:0000255|PROSITE-ProRule:PRU10028 |
| Q15569 | 130 | 179 | 1 | 626 | Chain | ID=PRO_0000086746;Note=Dual specificity testis-specific protein kinase 1 |
| Q15569 | 130 | 179 | 57 | 314 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| Q15569 | 237 | 265 | 1 | 626 | Chain | ID=PRO_0000086746;Note=Dual specificity testis-specific protein kinase 1 |
| Q15569 | 237 | 265 | 57 | 314 | 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 |
| Q15569 | 130 | 179 | 175 | 175 | Active site | Note=Proton acceptor;Ontology_term=ECO:0000255,ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159,ECO:0000255|PROSITE-ProRule:PRU10028 |
| Q15569 | 130 | 179 | 1 | 626 | Chain | ID=PRO_0000086746;Note=Dual specificity testis-specific protein kinase 1 |
| Q15569 | 130 | 179 | 57 | 314 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| Q15569 | 237 | 265 | 1 | 626 | Chain | ID=PRO_0000086746;Note=Dual specificity testis-specific protein kinase 1 |
| Q15569 | 237 | 265 | 57 | 314 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
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SNVs in the skipped exons for TESK1 |
| - 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 |
| LUAD | TCGA-67-3771-01 | exon_skip_495683 exon_skip_495682 | 35606834 | 35606980 | 35606843 | 35606843 | Frame_Shift_Del | G | - | p.G134fs |
| LUAD | TCGA-67-3771-01 | exon_skip_495683 exon_skip_495682 | 35606834 | 35606980 | 35606843 | 35606843 | Frame_Shift_Del | G | - | p.G135fs |
| STAD | TCGA-HU-A4GN-01 | exon_skip_495683 exon_skip_495682 | 35606834 | 35606980 | 35606843 | 35606843 | Frame_Shift_Del | G | - | p.N133fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_495691 | 35607579 | 35607669 | 35607647 | 35607647 | Frame_Shift_Del | G | - | p.R230fs |
| STAD | TCGA-BR-8487-01 | exon_skip_495683 exon_skip_495682 | 35606834 | 35606980 | 35606842 | 35606843 | Frame_Shift_Ins | - | G | p.N133fs |
| STAD | TCGA-BR-8487-01 | exon_skip_495683 exon_skip_495682 | 35606834 | 35606980 | 35606843 | 35606844 | Frame_Shift_Ins | - | G | p.N133fs |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-BR-8487-01 |
| Cancer type: STAD | |
| ESID: exon_skip_495682 | |
| Skipped exon start: 35606834 | |
| Skipped exon end: 35606980 | |
| Mutation start: 35606842 | |
| Mutation end: 35606843 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.N133fs | |
| Sample: TCGA-BR-8487-01 |
| Cancer type: STAD | |
| ESID: exon_skip_495682 | |
| Skipped exon start: 35606834 | |
| Skipped exon end: 35606980 | |
| Mutation start: 35606843 | |
| Mutation end: 35606844 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.N133fs | |
exon_skip_110606_STAD_TCGA-BR-8487-01.png | |
exon_skip_13071_STAD_TCGA-BR-8487-01.png | |
exon_skip_311841_STAD_TCGA-BR-8487-01.png | |
exon_skip_313312_STAD_TCGA-BR-8487-01.png | |
exon_skip_313316_STAD_TCGA-BR-8487-01.png | |
exon_skip_313367_STAD_TCGA-BR-8487-01.png | |
exon_skip_325448_STAD_TCGA-BR-8487-01.png | |
exon_skip_33313_STAD_TCGA-BR-8487-01.png | |
exon_skip_359494_STAD_TCGA-BR-8487-01.png | |
exon_skip_430601_STAD_TCGA-BR-8487-01.png | |
exon_skip_430604_STAD_TCGA-BR-8487-01.png | |
exon_skip_430616_STAD_TCGA-BR-8487-01.png | |
exon_skip_440411_STAD_TCGA-BR-8487-01.png | |
exon_skip_440412_STAD_TCGA-BR-8487-01.png | |
exon_skip_458582_STAD_TCGA-BR-8487-01.png | |
exon_skip_468869_STAD_TCGA-BR-8487-01.png | |
exon_skip_475355_STAD_TCGA-BR-8487-01.png | |
exon_skip_495683_STAD_TCGA-BR-8487-01.png | |
exon_skip_503611_STAD_TCGA-BR-8487-01.png | |
exon_skip_56463_STAD_TCGA-BR-8487-01.png | |
exon_skip_68768_STAD_TCGA-BR-8487-01.png | |
exon_skip_84502_STAD_TCGA-BR-8487-01.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 |
| SNU1_STOMACH | 35606834 | 35606980 | 35606849 | 35606849 | Missense_Mutation | A | G | p.T136A |
| SW684_SOFT_TISSUE | 35606834 | 35606980 | 35606922 | 35606922 | Missense_Mutation | C | T | p.A160V |
| OCIAML2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 35606834 | 35606980 | 35606951 | 35606951 | Missense_Mutation | G | T | p.G170C |
| SNU175_LARGE_INTESTINE | 35607579 | 35607669 | 35607607 | 35607607 | Missense_Mutation | G | A | p.V217M |
| HEC251_ENDOMETRIUM | 35607324 | 35607406 | 35607348 | 35607348 | Nonsense_Mutation | C | T | p.R188* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TESK1 |
| 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 TESK1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TESK1 |
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RelatedDrugs for TESK1 |
| 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 |
| Q15569 | DB12010 | Fostamatinib | Dual specificity testis-specific protein kinase 1 | small molecule | approved|investigational |
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RelatedDiseases for TESK1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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