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Fusion gene ID: 37316 |
FusionGeneSummary for TBC1D14_BRSK2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: TBC1D14_BRSK2 | Fusion gene ID: 37316 | 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|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 | 20180523 | 20180523 | |
| UniProtAcc | Q9P2M4 | Q8IWQ3 | |
| Ensembl transtripts involved in fusion gene | ENST00000448507, ENST00000409757, ENST00000410031, ENST00000451522, ENST00000446947, | ENST00000308219, ENST00000528841, ENST00000531197, ENST00000308230, ENST00000526678, ENST00000528710, ENST00000382179, ENST00000544817, | |
| Fusion gene scores | * DoF score | 7 X 4 X 8=224 | 1 X 1 X 1=1 |
| # samples | 9 | 1 | |
| ** MAII score | log2(9/224*10)=-1.31550182572793 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: TBC1D14 [Title/Abstract] AND BRSK2 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | |||
| * DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
| 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 |
| Fusion gene information from three resources (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * 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. |
| Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| TCGA | LD | LUAD | TCGA-50-6590-01A | TBC1D14 | chr4 | 6925838 | + | BRSK2 | chr11 | 1457270 | + |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| Frame-shift | ENST00000448507 | ENST00000308219 | TBC1D14 | chr4 | 6925838 | + | BRSK2 | chr11 | 1457270 | + |
| Frame-shift | ENST00000448507 | ENST00000528841 | TBC1D14 | chr4 | 6925838 | + | BRSK2 | chr11 | 1457270 | + |
| Frame-shift | ENST00000448507 | ENST00000531197 | TBC1D14 | chr4 | 6925838 | + | BRSK2 | chr11 | 1457270 | + |
| Frame-shift | ENST00000448507 | ENST00000308230 | TBC1D14 | chr4 | 6925838 | + | BRSK2 | chr11 | 1457270 | + |
| Frame-shift | ENST00000448507 | ENST00000526678 | TBC1D14 | chr4 | 6925838 | + | BRSK2 | chr11 | 1457270 | + |
| 5CDS-5UTR | ENST00000448507 | ENST00000528710 | TBC1D14 | chr4 | 6925838 | + | BRSK2 | chr11 | 1457270 | + |
| 5CDS-5UTR | ENST00000448507 | ENST00000382179 | TBC1D14 | chr4 | 6925838 | + | BRSK2 | chr11 | 1457270 | + |
| 5CDS-intron | ENST00000448507 | ENST00000544817 | TBC1D14 | chr4 | 6925838 | + | BRSK2 | chr11 | 1457270 | + |
| Frame-shift | ENST00000409757 | ENST00000308219 | TBC1D14 | chr4 | 6925838 | + | BRSK2 | chr11 | 1457270 | + |
| Frame-shift | ENST00000409757 | ENST00000528841 | TBC1D14 | chr4 | 6925838 | + | BRSK2 | chr11 | 1457270 | + |
| Frame-shift | ENST00000409757 | ENST00000531197 | TBC1D14 | chr4 | 6925838 | + | BRSK2 | chr11 | 1457270 | + |
| Frame-shift | ENST00000409757 | ENST00000308230 | TBC1D14 | chr4 | 6925838 | + | BRSK2 | chr11 | 1457270 | + |
| Frame-shift | ENST00000409757 | ENST00000526678 | TBC1D14 | chr4 | 6925838 | + | BRSK2 | chr11 | 1457270 | + |
| 5CDS-5UTR | ENST00000409757 | ENST00000528710 | TBC1D14 | chr4 | 6925838 | + | BRSK2 | chr11 | 1457270 | + |
| 5CDS-5UTR | ENST00000409757 | ENST00000382179 | TBC1D14 | chr4 | 6925838 | + | BRSK2 | chr11 | 1457270 | + |
| 5CDS-intron | ENST00000409757 | ENST00000544817 | TBC1D14 | chr4 | 6925838 | + | BRSK2 | chr11 | 1457270 | + |
| intron-3CDS | ENST00000410031 | ENST00000308219 | TBC1D14 | chr4 | 6925838 | + | BRSK2 | chr11 | 1457270 | + |
| intron-3CDS | ENST00000410031 | ENST00000528841 | TBC1D14 | chr4 | 6925838 | + | BRSK2 | chr11 | 1457270 | + |
| intron-3CDS | ENST00000410031 | ENST00000531197 | TBC1D14 | chr4 | 6925838 | + | BRSK2 | chr11 | 1457270 | + |
| intron-3CDS | ENST00000410031 | ENST00000308230 | TBC1D14 | chr4 | 6925838 | + | BRSK2 | chr11 | 1457270 | + |
| intron-3CDS | ENST00000410031 | ENST00000526678 | TBC1D14 | chr4 | 6925838 | + | BRSK2 | chr11 | 1457270 | + |
| intron-5UTR | ENST00000410031 | ENST00000528710 | TBC1D14 | chr4 | 6925838 | + | BRSK2 | chr11 | 1457270 | + |
| intron-5UTR | ENST00000410031 | ENST00000382179 | TBC1D14 | chr4 | 6925838 | + | BRSK2 | chr11 | 1457270 | + |
| intron-intron | ENST00000410031 | ENST00000544817 | TBC1D14 | chr4 | 6925838 | + | BRSK2 | chr11 | 1457270 | + |
| intron-3CDS | ENST00000451522 | ENST00000308219 | TBC1D14 | chr4 | 6925838 | + | BRSK2 | chr11 | 1457270 | + |
| intron-3CDS | ENST00000451522 | ENST00000528841 | TBC1D14 | chr4 | 6925838 | + | BRSK2 | chr11 | 1457270 | + |
| intron-3CDS | ENST00000451522 | ENST00000531197 | TBC1D14 | chr4 | 6925838 | + | BRSK2 | chr11 | 1457270 | + |
| intron-3CDS | ENST00000451522 | ENST00000308230 | TBC1D14 | chr4 | 6925838 | + | BRSK2 | chr11 | 1457270 | + |
| intron-3CDS | ENST00000451522 | ENST00000526678 | TBC1D14 | chr4 | 6925838 | + | BRSK2 | chr11 | 1457270 | + |
| intron-5UTR | ENST00000451522 | ENST00000528710 | TBC1D14 | chr4 | 6925838 | + | BRSK2 | chr11 | 1457270 | + |
| intron-5UTR | ENST00000451522 | ENST00000382179 | TBC1D14 | chr4 | 6925838 | + | BRSK2 | chr11 | 1457270 | + |
| intron-intron | ENST00000451522 | ENST00000544817 | TBC1D14 | chr4 | 6925838 | + | BRSK2 | chr11 | 1457270 | + |
| intron-3CDS | ENST00000446947 | ENST00000308219 | TBC1D14 | chr4 | 6925838 | + | BRSK2 | chr11 | 1457270 | + |
| intron-3CDS | ENST00000446947 | ENST00000528841 | TBC1D14 | chr4 | 6925838 | + | BRSK2 | chr11 | 1457270 | + |
| intron-3CDS | ENST00000446947 | ENST00000531197 | TBC1D14 | chr4 | 6925838 | + | BRSK2 | chr11 | 1457270 | + |
| intron-3CDS | ENST00000446947 | ENST00000308230 | TBC1D14 | chr4 | 6925838 | + | BRSK2 | chr11 | 1457270 | + |
| intron-3CDS | ENST00000446947 | ENST00000526678 | TBC1D14 | chr4 | 6925838 | + | BRSK2 | chr11 | 1457270 | + |
| intron-5UTR | ENST00000446947 | ENST00000528710 | TBC1D14 | chr4 | 6925838 | + | BRSK2 | chr11 | 1457270 | + |
| intron-5UTR | ENST00000446947 | ENST00000382179 | TBC1D14 | chr4 | 6925838 | + | BRSK2 | chr11 | 1457270 | + |
| intron-intron | ENST00000446947 | ENST00000544817 | TBC1D14 | chr4 | 6925838 | + | BRSK2 | chr11 | 1457270 | + |
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FusionProtFeatures for TBC1D14_BRSK2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| TBC1D14 | BRSK2 |
| Negative regulator of starvation-induced autophagosomeformation. {ECO:0000269|PubMed:22613832}. | Serine/threonine-protein kinase that plays a key role inpolarization of neurons and axonogenesis, cell cycle progress andinsulin secretion. Phosphorylates CDK16, CDC25C, MAPT/TAU, PAK1and WEE1. Following phosphorylation and activation by STK11/LKB1,acts as a key regulator of polarization of cortical neurons,probably by mediating phosphorylation of microtubule-associatedproteins such as MAPT/TAU at 'Thr-529' and 'Ser-579'. Alsoregulates neuron polarization by mediating phosphorylation of WEE1at 'Ser-642' in postmitotic neurons, leading to down-regulate WEE1activity in polarized neurons. Plays a role in the regulation ofthe mitotic cell cycle progress and the onset of mitosis. Plays arole in the regulation of insulin secretion in response toelevated glucose levels, probably via phosphorylation of CDK16 andPAK1. While BRSK2 phosphorylated at Thr-174 can inhibit insulinsecretion (PubMed:22798068), BRSK2 phosphorylated at Thr-260 canpromote insulin secretion (PubMed:22669945). Regulatesreorganization of the actin cytoskeleton. May play a role in theapoptotic 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. |
| - In-frame and retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| - In-frame and not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for TBC1D14_BRSK2 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
| * Fusion amino acid sequences. |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| * Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for TBC1D14_BRSK2 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| TBC1D14 | UBE3A, XPO1, CENPA, PML, TFEB, TRAPPC11, TRAPPC12, TRAPPC13, ADRBK1, TRAPPC8, TRAPPC4, TRAPPC3, TRAPPC6B, SELENBP1, HEPHL1, TRAPPC2, TRAPPC9, TRAPPC5, LRRC15, TRAPPC2L, TRAPPC10, TRAPPC1, TCHH | BRSK2 | KBTBD7, PRKAA1, COPS5, FZR1, WEE1, CDC25B, CDC25C, VCP, TRIM25 |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for TBC1D14_BRSK2 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for TBC1D14_BRSK2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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