| UTHEALTH HOME ABOUT SBMI A-Z WEBMAIL INSIDE THE UNIVERSITY |
|
|||||||
|
Kinase Fusion Gene:TBC1D14_BRSK2 |
Kinase Fusion Protein Summary |
 Kinase Fusion gene summary |
| Kinase Fusion partner gene information | Kinase Fusion gene name: TBC1D14_BRSK2 | KinaseFusionDB ID: KFG6426 | FusionGDB2.0 ID: KFG6426 | Hgene | Tgene | Gene symbol | TBC1D14 | BRSK2 | Gene ID | 57533 | 9024 | |
| Gene name | TBC1 domain family member 14 | BR serine/threonine kinase 2 | ||||||||||
| Synonyms | - | C11orf7|PEN11B|SAD-A|SAD1|SADA|STK29 | ||||||||||
| Cytomap | 4p16.1 | 11p15.5 | ||||||||||
| Type of gene | protein-coding | protein-coding | ||||||||||
| Description | TBC1 domain family member 14 | serine/threonine-protein kinase BRSK2BR serine/threonine-protein kinase 2brain-selective kinase 2brain-specific serine/threonine-protein kinase 2protein kinase SAD1Bserine/threonine-protein kinase 29serine/threonine-protein kinase SAD-Atesticular t | ||||||||||
| Modification date | 20240305 | 20240305 | ||||||||||
| UniProtAcc | Q9P2M4 | Q8IWQ3 | ||||||||||
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000409757, ENST00000448507, ENST00000410031, ENST00000446947, ENST00000451522, | ENST00000382179, ENST00000528710, ENST00000544817, ENST00000308219, ENST00000308230, ENST00000526678, ENST00000528841, ENST00000531197, | |||||||||
| Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: TBC1D14 [Title/Abstract] AND BRSK2 [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | TBC1D14(6925838)-BRSK2(1457270), # samples:2 | |||||||||||
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Tgene | BRSK2 | GO:0006468 | protein phosphorylation | 14976552 |
| Kinase Fusion gene breakpoints across TBC1D14 (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Kinase Fusion gene breakpoints across BRSK2 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
Top |
Kinase Fusion Gene Sample Information |
| Kinase Fusion gene information. |
| Kinase Fusion gene information from four resources (ChiTars 5.0, ChimerDB 4.0, COSMIC, and CCLE) * All genome coordinats were lifted-over on hg19. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
| Source | Sample | Hgene | Hchr | Hbp | Tgene | Tchr | Tbp |
| ChimerDB4 | TCGA-50-6590-01A | TBC1D14 | chr4 | 6925838 | BRSK2 | chr11 | 1457270 |
| ChimerDB4 | TCGA-50-6590 | TBC1D14 | chr4 | 6925838 | BRSK2 | chr11 | 1457269 |
Top |
Kinase Fusion ORF Analysis |
| Kinase Fusion information from ORFfinder translation from full-length transcript sequence from KinaseFusionDB. |
| Henst | Tenst | Hgene | Hchr | Hbp | Tgene | Tchr | Tbp | Seq length (transcript) | Seq length (amino acids) |
Top |
Kinase Fusion Amino Acid Sequences |
| For individual full-length fusion transcript sequence from KinaseFusionDB, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
| >Henst_Tenst_Hgene_Hchr_Hbp_Tgene_Tchr_Tbp_length(fusion AA)_AAseq |
Multiple Sequence Alignment of All Fusion Protein Isoforms |
Top |
Kinase Fusion Protein Functional Features |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:6925838/:1457270) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| TBC1D14 | BRSK2 |
| FUNCTION: Plays a role in the regulation of starvation-induced autophagosome formation (PubMed:22613832). Together with the TRAPPIII complex, regulates a constitutive trafficking step from peripheral recycling endosomes to the early Golgi, maintaining the cycling pool of ATG9 required for initiation of autophagy. {ECO:0000269|PubMed:22613832, ECO:0000269|PubMed:26711178}. | FUNCTION: Serine/threonine-protein kinase that plays a key role in polarization of neurons and axonogenesis, cell cycle progress and insulin secretion. Phosphorylates CDK16, CDC25C, MAPT/TAU, PAK1 and WEE1. Following phosphorylation and activation by STK11/LKB1, acts as a key regulator of polarization of cortical neurons, probably by mediating phosphorylation of microtubule-associated proteins such as MAPT/TAU at 'Thr-529' and 'Ser-579'. Also regulates neuron polarization by mediating phosphorylation of WEE1 at 'Ser-642' in postmitotic neurons, leading to down-regulate WEE1 activity in polarized neurons. Plays a role in the regulation of the mitotic cell cycle progress and the onset of mitosis. Plays a role in the regulation of insulin secretion in response to elevated glucose levels, probably via phosphorylation of CDK16 and PAK1. While BRSK2 phosphorylated at Thr-174 can inhibit insulin secretion (PubMed:22798068), BRSK2 phosphorylated at Thr-260 can promote insulin secretion (PubMed:22669945). Regulates reorganization of the actin cytoskeleton. May play a role in the apoptotic response triggered by endoplasmic reticulum (ER) stress. {ECO:0000269|PubMed:14976552, ECO:0000269|PubMed:20026642, ECO:0000269|PubMed:21985311, ECO:0000269|PubMed:22669945, ECO:0000269|PubMed:22798068, ECO:0000269|PubMed:23029325}. |
| Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at * Minus value of BPloci means that the break pointn is located before the CDS. |
| - Retained domain in the 5'-partner of fusion protein (protein functional feature from UniProt). |
| Partner | Hgeneene | Hbp | Tgeneene | Tbp | ENST | BPexon | TotalExon | Protein feature loci | BPloci | TotalLen | Feature | Note |
| - Retained domain in the 3'-partner of fusion protein (protein functional feature from UniProt). |
| Partner | Hgeneene | Hbp | Tgeneene | Tbp | ENST | BPexon | TotalExon | Protein feature loci | BPloci | TotalLen | Feature | Note |
Top |
Kinase-Substrate Information of TBC1D14_BRSK2 |
| Phosphorylation target of the kinase (phosphosite, 03-17-2024) |
| Kinase | Kinase UniProt Acc | Kinase species | Substrate | Substrate UniProt Acc | Substrate phosphorylated residues | Substrate phosphorylated sites (+/-7AA) | Domain |
| BRSK2 | Q8IWQ3 | human | MAPT | P10636-8 | S262 | NVKskIGstENLkHQ | Tubulin-binding |
| BRSK2 | Q8IWQ3 | human | PRKAA1 | Q13131 | T183 | sDGEFLRtsCGsPNy | Pkinase |
| BRSK2 | Q8IWQ3 | human | ARHGDIA | P52565 | S174 | kGMLARGsYsIkSRF | Rho_GDI |
| BRSK2 | Q8IWQ3 | human | TSC2 | P49815 | S1387 | QPLsKssssPELQtL | |
| BRSK2 | Q8IWQ3 | human | MAPT | P10636-8 | S356 | rVQskIGsLDNItHV | Tubulin-binding |
| BRSK2 | Q8IWQ3 | human | CDK16 | Q00536 | S12 | KKIKRQLsMtLRGGr |
| Biological Network Integration of This Kinase and Substrates (GeneMANIA website) |
| Enriched GO biological processes of the phosphorylation target genes of the kinase |
| Kinase | GOID | GO term | P.adjust |
| BRSK2 | ID | Description | 0.00e+00 |
| BRSK2 | GO:0010506 | regulation of autophagy | 2.72e-04 |
| BRSK2 | GO:0010508 | positive regulation of autophagy | 1.09e-03 |
| BRSK2 | GO:0090043 | regulation of tubulin deacetylation | 1.59e-03 |
| BRSK2 | GO:0090042 | tubulin deacetylation | 1.59e-03 |
| BRSK2 | GO:0034063 | stress granule assembly | 2.34e-03 |
| BRSK2 | GO:0090311 | regulation of protein deacetylation | 2.49e-03 |
| BRSK2 | GO:0046627 | negative regulation of insulin receptor signaling pathway | 2.70e-03 |
| BRSK2 | GO:1900077 | negative regulation of cellular response to insulin stimulus | 2.70e-03 |
| BRSK2 | GO:1904262 | negative regulation of TORC1 signaling | 3.01e-03 |
| BRSK2 | GO:1903747 | regulation of establishment of protein localization to mitochondrion | 3.02e-03 |
| BRSK2 | GO:0010823 | negative regulation of mitochondrion organization | 3.02e-03 |
| BRSK2 | GO:0031331 | positive regulation of cellular catabolic process | 3.19e-03 |
| BRSK2 | GO:0006476 | protein deacetylation | 3.19e-03 |
| BRSK2 | GO:0031400 | negative regulation of protein modification process | 3.27e-03 |
| BRSK2 | GO:0035601 | protein deacylation | 3.27e-03 |
| BRSK2 | GO:0046626 | regulation of insulin receptor signaling pathway | 3.27e-03 |
| BRSK2 | GO:0098732 | macromolecule deacylation | 3.27e-03 |
| BRSK2 | GO:0072594 | establishment of protein localization to organelle | 3.27e-03 |
| BRSK2 | GO:1900076 | regulation of cellular response to insulin stimulus | 3.27e-03 |
| BRSK2 | GO:0032007 | negative regulation of TOR signaling | 3.38e-03 |
| BRSK2 | GO:1903432 | regulation of TORC1 signaling | 5.09e-03 |
| BRSK2 | GO:0038202 | TORC1 signaling | 5.50e-03 |
| BRSK2 | GO:0006473 | protein acetylation | 6.04e-03 |
| BRSK2 | GO:0072655 | establishment of protein localization to mitochondrion | 7.72e-03 |
| BRSK2 | GO:0008286 | insulin receptor signaling pathway | 7.72e-03 |
| BRSK2 | GO:0070585 | protein localization to mitochondrion | 8.08e-03 |
| BRSK2 | GO:0071333 | cellular response to glucose stimulus | 8.08e-03 |
| BRSK2 | GO:0071331 | cellular response to hexose stimulus | 8.08e-03 |
| BRSK2 | GO:0071326 | cellular response to monosaccharide stimulus | 8.08e-03 |
| BRSK2 | GO:0045834 | positive regulation of lipid metabolic process | 8.08e-03 |
| BRSK2 | GO:1903008 | organelle disassembly | 8.08e-03 |
| BRSK2 | GO:0032006 | regulation of TOR signaling | 8.08e-03 |
| BRSK2 | GO:0043543 | protein acylation | 8.08e-03 |
| BRSK2 | GO:0071322 | cellular response to carbohydrate stimulus | 8.12e-03 |
| BRSK2 | GO:0010821 | regulation of mitochondrion organization | 8.12e-03 |
| BRSK2 | GO:0034614 | cellular response to reactive oxygen species | 8.12e-03 |
| BRSK2 | GO:0001678 | intracellular glucose homeostasis | 8.21e-03 |
| BRSK2 | GO:0070507 | regulation of microtubule cytoskeleton organization | 8.41e-03 |
| BRSK2 | GO:0031929 | TOR signaling | 8.81e-03 |
| BRSK2 | GO:0009266 | response to temperature stimulus | 9.00e-03 |
| BRSK2 | GO:0009267 | cellular response to starvation | 9.62e-03 |
| BRSK2 | GO:0009749 | response to glucose | 1.06e-02 |
| BRSK2 | GO:0033673 | negative regulation of kinase activity | 1.06e-02 |
| BRSK2 | GO:0009746 | response to hexose | 1.09e-02 |
| BRSK2 | GO:0000302 | response to reactive oxygen species | 1.11e-02 |
| BRSK2 | GO:0032869 | cellular response to insulin stimulus | 1.11e-02 |
| BRSK2 | GO:0034284 | response to monosaccharide | 1.11e-02 |
| BRSK2 | GO:0019722 | calcium-mediated signaling | 1.13e-02 |
| BRSK2 | GO:0042594 | response to starvation | 1.19e-02 |
Top |
Related Drugs to TBC1D14_BRSK2 |
| Drugs used for this fusion-positive patient. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Drug | Source | PMID |
| Distribution of the number of studies mentioning TBC1D14-BRSK2 and kinase inhibitors the PubMed Abstract (04-01-2024) |
| Fusion gene - drug pair 1 | Fusion gene - drug pair 2 | PMID | Publication date | DOI | Study title |
Top |
Related Diseases to TBC1D14_BRSK2 |
| Diseases that have this fusion gene. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Disease | Source | PMID |
| Related diseases from the literature mentioned this fusion gene and drug. (PubMed, 04-01-2024) |
| MeSH ID | MeSH term |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Top |
Clinical Trials of the Found Drugs/Small Molecules |
| Statistics of the Clinical Trials of the Found Kinase Inibitors from clinicaltrials.gov (06-17-2024) |
| Clinical Trials from clinicaltrials.gov (06-17-2024) |
| Fusion Gene | Kinase Inhibitor | NCT ID | Study Status | Phases | Disease | # Enrolment | Date |
Copyright 2024-Present -The University of Texas Health Science Center at Houston
Web File Viewing | Emergency Information |Campus Carry|Site Policies |