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Open reading frame (ORF) annotation in the exon skipping event | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon | |
Gene summary for TTK |
Gene summary |
Gene information | Gene symbol | TTK | Gene ID | 7272 |
Gene name | TTK protein kinase | |
Synonyms | CT96|ESK|MPH1|MPS1|MPS1L1|PYT | |
Cytomap | 6q14.1 | |
Type of gene | protein-coding | |
Description | dual specificity protein kinase TTKcancer/testis antigen 96monopolar spindle 1 kinasemonopolar spindle 1-like 1phosphotyrosine picked threonine kinasephosphotyrosine picked threonine-protein kinase | |
Modification date | 20180527 | |
UniProtAcc | P33981 | |
Context | PubMed: TTK [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 TTK 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 TTK |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for TTK |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_453239 | 6 | 80715657:80715699:80715821:80715892:80717525:80717748 | 80715821:80715892 | ENSG00000112742.5 | ENST00000509313.1 |
exon_skip_453240 | 6 | 80721602:80721697:80722995:80723083:80724179:80724303 | 80722995:80723083 | ENSG00000112742.5 | ENST00000230510.3,ENST00000369798.2,ENST00000509894.1 |
exon_skip_453241 | 6 | 80724179:80724303:80732040:80732189:80736094:80736231 | 80732040:80732189 | ENSG00000112742.5 | ENST00000369798.2,ENST00000515751.1 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for TTK |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_453239 | 6 | 80715657:80715699:80715821:80715892:80717525:80717748 | 80715821:80715892 | ENSG00000112742.5 | ENST00000509313.1 |
exon_skip_453240 | 6 | 80721602:80721697:80722995:80723083:80724179:80724303 | 80722995:80723083 | ENSG00000112742.5 | ENST00000509894.1,ENST00000230510.3,ENST00000369798.2 |
exon_skip_453241 | 6 | 80724179:80724303:80732040:80732189:80736094:80736231 | 80732040:80732189 | ENSG00000112742.5 | ENST00000369798.2,ENST00000515751.1 |
PSI values of skipped exons in GTEx. |
* Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for TTK |
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 |
ENST00000369798 | 80722995 | 80723083 | Frame-shift |
ENST00000369798 | 80732040 | 80732189 | 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 |
ENST00000369798 | 80722995 | 80723083 | Frame-shift |
ENST00000369798 | 80732040 | 80732189 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for TTK |
Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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 TTK |
- Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
- 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-A3A0-01 | exon_skip_453241 | 80732041 | 80732189 | 80732105 | 80732105 | Frame_Shift_Del | A | - | p.R391fs |
STAD | TCGA-F1-A448-01 | exon_skip_453240 | 80722996 | 80723083 | 80723018 | 80723018 | Nonsense_Mutation | C | T | p.R307* |
STAD | TCGA-F1-A448-01 | exon_skip_453240 | 80722996 | 80723083 | 80723018 | 80723018 | Nonsense_Mutation | C | T | p.R307X |
BLCA | TCGA-CU-A0YN-01 | exon_skip_453240 | 80722996 | 80723083 | 80723066 | 80723066 | Nonsense_Mutation | G | T | p.E323* |
THCA | TCGA-EM-A3SX-01 | exon_skip_453241 | 80732041 | 80732189 | 80732143 | 80732143 | Nonsense_Mutation | C | G | p.S404* |
- 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 | 80732041 | 80732189 | 80732098 | 80732098 | Missense_Mutation | C | T | p.S389F |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TTK |
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 |
exon_skip_453239 | 6 | 80715657:80715699:80715821:80715892:80717525:80717748 | 80715821:80715892 | ENST00000509313.1 | ESCA | rs240226 | chr6:80715838 | T/G | 7.46e-18 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TTK |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TTK |
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RelatedDrugs for TTK |
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 |
P33981 | DB12010 | Fostamatinib | Dual specificity protein kinase TTK | small molecule | approved|investigational |
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RelatedDiseases for TTK |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |
TTK | C0032460 | Polycystic Ovary Syndrome | 1 | CTD_human |