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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 TTBK2 |
 Gene summary |
| Gene information | Gene symbol | TTBK2 | Gene ID | 146057 |
| Gene name | tau tubulin kinase 2 | |
| Synonyms | SCA11|TTBK | |
| Cytomap | 15q15.2 | |
| Type of gene | protein-coding | |
| Description | tau-tubulin kinase 2 | |
| Modification date | 20180523 | |
| UniProtAcc | Q6IQ55 | |
| Context | PubMed: TTBK2 [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 |
| TTBK2 | GO:0007026 | negative regulation of microtubule depolymerization | 26323690 |
| TTBK2 | GO:0018105 | peptidyl-serine phosphorylation | 21548880|26323690 |
| TTBK2 | GO:1904527 | negative regulation of microtubule binding | 26323690 |
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Exon skipping events across known transcript of Ensembl for TTBK2 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 TTBK2 |
| 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 TTBK2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_126418 | 15 | 43075616:43075833:43086841:43086999:43102811:43102937 | 43086841:43086999 | ENSG00000128881.12 | ENST00000267890.6,ENST00000567274.1,ENST00000567840.1 |
| exon_skip_126419 | 15 | 43086841:43086999:43102811:43102937:43103885:43103978 | 43102811:43102937 | ENSG00000128881.12 | ENST00000267890.6,ENST00000567274.1,ENST00000567840.1 |
| exon_skip_126421 | 15 | 43103885:43103978:43109229:43109295:43120125:43120230 | 43109229:43109295 | ENSG00000128881.12 | ENST00000267890.6,ENST00000567840.1 |
| exon_skip_126422 | 15 | 43109229:43109295:43120125:43120230:43122135:43122276 | 43120125:43120230 | ENSG00000128881.12 | ENST00000267890.6,ENST00000567840.1 |
| exon_skip_126424 | 15 | 43122167:43122276:43132557:43132631:43164808:43164875 | 43132557:43132631 | ENSG00000128881.12 | ENST00000267890.6,ENST00000567274.1,ENST00000562880.1,ENST00000567840.1 |
| exon_skip_126425 | 15 | 43122167:43122276:43132557:43132631:43170746:43170882 | 43132557:43132631 | ENSG00000128881.12 | ENST00000566931.1 |
| exon_skip_126432 | 15 | 43132557:43132631:43164808:43164956:43170746:43170882 | 43164808:43164956 | ENSG00000128881.12 | ENST00000267890.6,ENST00000567274.1,ENST00000562880.1,ENST00000567840.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for TTBK2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_126418 | 15 | 43075616:43075833:43086841:43086999:43102811:43102937 | 43086841:43086999 | ENSG00000128881.12 | ENST00000267890.6,ENST00000567840.1,ENST00000567274.1 |
| exon_skip_126419 | 15 | 43086841:43086999:43102811:43102937:43103885:43103978 | 43102811:43102937 | ENSG00000128881.12 | ENST00000267890.6,ENST00000567840.1,ENST00000567274.1 |
| exon_skip_126421 | 15 | 43103885:43103978:43109229:43109295:43120125:43120230 | 43109229:43109295 | ENSG00000128881.12 | ENST00000267890.6,ENST00000567840.1 |
| exon_skip_126422 | 15 | 43109229:43109295:43120125:43120230:43122135:43122276 | 43120125:43120230 | ENSG00000128881.12 | ENST00000267890.6,ENST00000567840.1 |
| exon_skip_126423 | 15 | 43109229:43109295:43122135:43122276:43132557:43132631 | 43122135:43122276 | ENSG00000128881.12 | ENST00000567274.1 |
| exon_skip_126424 | 15 | 43122167:43122276:43132557:43132631:43164808:43164875 | 43132557:43132631 | ENSG00000128881.12 | ENST00000267890.6,ENST00000567840.1,ENST00000567274.1,ENST00000562880.1 |
| exon_skip_126425 | 15 | 43122167:43122276:43132557:43132631:43170746:43170882 | 43132557:43132631 | ENSG00000128881.12 | ENST00000566931.1 |
| exon_skip_126427 | 15 | 43122167:43122276:43164808:43164894:43170746:43170882 | 43164808:43164894 | ENSG00000128881.12 | ENST00000564431.1 |
| exon_skip_126432 | 15 | 43132557:43132631:43164808:43164956:43170746:43170882 | 43164808:43164956 | ENSG00000128881.12 | ENST00000267890.6,ENST00000567840.1,ENST00000567274.1,ENST00000562880.1 |
| exon_skip_126433 | 15 | 43147316:43147398:43149592:43149714:43164808:43164875 | 43149592:43149714 | ENSG00000128881.12 | ENST00000567485.1 |
| 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 TTBK2 |
| 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 |
| ENST00000267890 | 43086841 | 43086999 | Frame-shift |
| ENST00000267890 | 43132557 | 43132631 | Frame-shift |
| ENST00000267890 | 43164808 | 43164956 | Frame-shift |
| ENST00000267890 | 43102811 | 43102937 | In-frame |
| ENST00000267890 | 43109229 | 43109295 | In-frame |
| ENST00000267890 | 43120125 | 43120230 | 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 |
| ENST00000267890 | 43086841 | 43086999 | Frame-shift |
| ENST00000267890 | 43132557 | 43132631 | Frame-shift |
| ENST00000267890 | 43164808 | 43164956 | Frame-shift |
| ENST00000267890 | 43102811 | 43102937 | In-frame |
| ENST00000267890 | 43109229 | 43109295 | In-frame |
| ENST00000267890 | 43120125 | 43120230 | In-frame |
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Infer the effects of exon skipping event on protein functional features for TTBK2 |
| 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 |
| ENST00000267890 | 10922 | 1244 | 43120125 | 43120230 | 542 | 646 | 144 | 179 |
| ENST00000267890 | 10922 | 1244 | 43109229 | 43109295 | 647 | 712 | 179 | 201 |
| ENST00000267890 | 10922 | 1244 | 43102811 | 43102937 | 806 | 931 | 232 | 274 |
| 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 |
| ENST00000267890 | 10922 | 1244 | 43120125 | 43120230 | 542 | 646 | 144 | 179 |
| ENST00000267890 | 10922 | 1244 | 43109229 | 43109295 | 647 | 712 | 179 | 201 |
| ENST00000267890 | 10922 | 1244 | 43102811 | 43102937 | 806 | 931 | 232 | 274 |
| 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 |
| Q6IQ55 | 144 | 179 | 1 | 1244 | Chain | ID=PRO_0000234342;Note=Tau-tubulin kinase 2 |
| Q6IQ55 | 144 | 179 | 21 | 284 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| Q6IQ55 | 144 | 179 | 163 | 163 | Mutagenesis | Note=Abolishes serine/threonine-protein kinase activity. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21548880;Dbxref=PMID:21548880 |
| Q6IQ55 | 179 | 201 | 1 | 1244 | Chain | ID=PRO_0000234342;Note=Tau-tubulin kinase 2 |
| Q6IQ55 | 179 | 201 | 21 | 284 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| Q6IQ55 | 179 | 201 | 181 | 181 | Mutagenesis | Note=Impaired serine/threonine-protein kinase activity. R->E%2CA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21548880;Dbxref=PMID:21548880 |
| Q6IQ55 | 179 | 201 | 184 | 184 | Mutagenesis | Note=Impaired serine/threonine-protein kinase activity. A->E%2CG;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21548880;Dbxref=PMID:21548880 |
| Q6IQ55 | 232 | 274 | 1 | 1244 | Chain | ID=PRO_0000234342;Note=Tau-tubulin kinase 2 |
| Q6IQ55 | 232 | 274 | 21 | 284 | 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 |
| Q6IQ55 | 144 | 179 | 1 | 1244 | Chain | ID=PRO_0000234342;Note=Tau-tubulin kinase 2 |
| Q6IQ55 | 144 | 179 | 21 | 284 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| Q6IQ55 | 144 | 179 | 163 | 163 | Mutagenesis | Note=Abolishes serine/threonine-protein kinase activity. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21548880;Dbxref=PMID:21548880 |
| Q6IQ55 | 179 | 201 | 1 | 1244 | Chain | ID=PRO_0000234342;Note=Tau-tubulin kinase 2 |
| Q6IQ55 | 179 | 201 | 21 | 284 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| Q6IQ55 | 179 | 201 | 181 | 181 | Mutagenesis | Note=Impaired serine/threonine-protein kinase activity. R->E%2CA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21548880;Dbxref=PMID:21548880 |
| Q6IQ55 | 179 | 201 | 184 | 184 | Mutagenesis | Note=Impaired serine/threonine-protein kinase activity. A->E%2CG;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21548880;Dbxref=PMID:21548880 |
| Q6IQ55 | 232 | 274 | 1 | 1244 | Chain | ID=PRO_0000234342;Note=Tau-tubulin kinase 2 |
| Q6IQ55 | 232 | 274 | 21 | 284 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
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SNVs in the skipped exons for TTBK2 |
| - 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_126418 | 43086842 | 43086999 | 43086844 | 43086844 | Frame_Shift_Del | A | - | p.I326fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_126418 | 43086842 | 43086999 | 43086917 | 43086917 | Frame_Shift_Del | T | - | p.N302fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_126421 | 43109230 | 43109295 | 43109275 | 43109275 | Frame_Shift_Del | A | - | p.F186fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_126422 | 43120126 | 43120230 | 43120189 | 43120189 | Frame_Shift_Del | T | - | p.K158fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_126432 | 43164809 | 43164956 | 43164846 | 43164846 | Frame_Shift_Del | A | - | p.V60fs |
| KIRC | TCGA-B2-4102-01 | exon_skip_126421 | 43109230 | 43109295 | 43109278 | 43109279 | Frame_Shift_Ins | - | C | p.G185fs |
| STAD | TCGA-BR-8487-01 | exon_skip_126422 | 43120126 | 43120230 | 43120161 | 43120161 | Nonsense_Mutation | G | A | p.R168* |
| - 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 |
| CJM_SKIN | 43086842 | 43086999 | 43086859 | 43086859 | Missense_Mutation | C | G | p.L321F |
| TE8_OESOPHAGUS | 43086842 | 43086999 | 43086875 | 43086875 | Missense_Mutation | T | A | p.Q316L |
| HMEL_BREAST | 43086842 | 43086999 | 43086888 | 43086888 | Missense_Mutation | A | T | p.S312T |
| KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 43086842 | 43086999 | 43086942 | 43086942 | Missense_Mutation | G | T | p.P294T |
| HEC59_ENDOMETRIUM | 43102812 | 43102937 | 43102853 | 43102853 | Missense_Mutation | G | A | p.H261Y |
| MN60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 43102812 | 43102937 | 43102907 | 43102907 | Missense_Mutation | C | T | p.D243N |
| CORL51_LUNG | 43109230 | 43109295 | 43109250 | 43109250 | Missense_Mutation | T | C | p.I195V |
| HEC6_ENDOMETRIUM | 43109230 | 43109295 | 43109283 | 43109283 | Missense_Mutation | C | T | p.A184T |
| SH10TC_STOMACH | 43109230 | 43109295 | 43109291 | 43109291 | Missense_Mutation | C | T | p.R181Q |
| FADU_UPPER_AERODIGESTIVE_TRACT | 43120126 | 43120230 | 43120160 | 43120160 | Missense_Mutation | C | G | p.R168P |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 43120126 | 43120230 | 43120184 | 43120184 | Missense_Mutation | T | A | p.Y160F |
| NCIH1651_LUNG | 43120126 | 43120230 | 43120218 | 43120218 | Missense_Mutation | T | G | p.M149L |
| SNU719_STOMACH | 43164809 | 43164956 | 43164890 | 43164890 | Missense_Mutation | T | G | p.N46H |
| 22RV1_PROSTATE | 43164809 | 43164956 | 43164919 | 43164919 | Missense_Mutation | T | C | p.Y36C |
| KMM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 43120126 | 43120230 | 43120161 | 43120161 | Nonsense_Mutation | G | A | p.R168* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TTBK2 |
| 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 TTBK2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TTBK2 |
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RelatedDrugs for TTBK2 |
| 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 TTBK2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| TTBK2 | C0087012 | Ataxia, Spinocerebellar | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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