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Kinase Fusion Gene:PASK_BOK |
Kinase Fusion Protein Summary |
 Kinase Fusion gene summary |
| Kinase Fusion partner gene information | Kinase Fusion gene name: PASK_BOK | KinaseFusionDB ID: KFG4509 | FusionGDB2.0 ID: KFG4509 | Hgene | Tgene | Gene symbol | PASK | BOK | Gene ID | 27347 | 666 | |
| Gene name | serine/threonine kinase 39 | BCL2 family apoptosis regulator BOK | ||||||||||
| Synonyms | DCHT|PASK|SPAK | BCL2L9|BOKL | ||||||||||
| Cytomap | 2q24.3 | 2q37.3 | ||||||||||
| Type of gene | protein-coding | protein-coding | ||||||||||
| Description | STE20/SPS1-related proline-alanine-rich protein kinaseSTE20/SPS1 homologSte20-like protein kinaseproline-alanine-rich STE20-related kinaseserine threonine kinase 39 (STE20/SPS1 homolog, yeast)serine/threonine-protein kinase 39small intestine SPAK-li | bcl-2-related ovarian killer proteinBCL2 related ovarian killerBOK, BCL2 family apoptosis regulatorbcl-2-like protein 9bcl2-L-9hBOK | ||||||||||
| Modification date | 20240411 | 20240411 | ||||||||||
| UniProtAcc | Q9UEW8 | Q9UMX3 | ||||||||||
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000234040, ENST00000358649, ENST00000403638, ENST00000405260, ENST00000475666, ENST00000539818, ENST00000544142, | ENST00000318407, | |||||||||
| Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: PASK [Title/Abstract] AND BOK [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | PASK(242079936)-BOK(242509540), # samples:3 | |||||||||||
| 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 |
| Hgene | PASK | GO:0006884 | cell volume homeostasis | 36318922 |
| Hgene | PASK | GO:0007165 | signal transduction | 24393035 |
| Hgene | PASK | GO:0018105 | peptidyl-serine phosphorylation | 24393035 |
| Hgene | PASK | GO:0018107 | peptidyl-threonine phosphorylation | 24393035 |
| Hgene | PASK | GO:0035556 | intracellular signal transduction | 24393035 |
| Hgene | PASK | GO:0070294 | renal sodium ion absorption | 18270262 |
| Hgene | PASK | GO:0071474 | cellular hyperosmotic response | 36318922 |
| Hgene | PASK | GO:0071476 | cellular hypotonic response | 24393035 |
| Hgene | PASK | GO:1901017 | negative regulation of potassium ion transmembrane transporter activity | 24393035 |
| Hgene | PASK | GO:1901380 | negative regulation of potassium ion transmembrane transport | 24393035 |
| Hgene | PASK | GO:1905408 | negative regulation of creatine transmembrane transporter activity | 25531585 |
| Hgene | PASK | GO:2000650 | negative regulation of sodium ion transmembrane transporter activity | 25531585 |
| Tgene | BOK | GO:0001836 | release of cytochrome c from mitochondria | 27505430 |
| Tgene | BOK | GO:0006915 | apoptotic process | 15102863 |
| Tgene | BOK | GO:0043065 | positive regulation of apoptotic process | 16302269|27505430 |
| Tgene | BOK | GO:1901382 | regulation of chorionic trophoblast cell proliferation | 19942931 |
| Kinase Fusion gene breakpoints across PASK (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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| Kinase Fusion gene breakpoints across BOK (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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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-55-6985-01A | PASK | chr2 | 242079936 | BOK | chr2 | 242509540 |
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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) |
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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 |
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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/chr2:242079936/chr2:242509540) - 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. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PASK | BOK |
| FUNCTION: Effector serine/threonine-protein kinase component of the WNK-SPAK/OSR1 kinase cascade, which is involved in various processes, such as ion transport, response to hypertonic stress and blood pressure (PubMed:16669787, PubMed:18270262, PubMed:21321328, PubMed:34289367). Specifically recognizes and binds proteins with a RFXV motif (PubMed:16669787, PubMed:21321328). Acts downstream of WNK kinases (WNK1, WNK2, WNK3 or WNK4): following activation by WNK kinases, catalyzes phosphorylation of ion cotransporters, such as SLC12A1/NKCC2, SLC12A2/NKCC1, SLC12A3/NCC, SLC12A5/KCC2 or SLC12A6/KCC3, regulating their activity (PubMed:21321328). Mediates regulatory volume increase in response to hyperosmotic stress by catalyzing phosphorylation of ion cotransporters SLC12A1/NKCC2, SLC12A2/NKCC1 and SLC12A6/KCC3 downstream of WNK1 and WNK3 kinases (PubMed:12740379, PubMed:16669787, PubMed:21321328). Phosphorylation of Na-K-Cl cotransporters SLC12A2/NKCC1 and SLC12A2/NKCC1 promote their activation and ion influx; simultaneously, phosphorylation of K-Cl cotransporters SLC12A5/KCC2 and SLC12A6/KCC3 inhibit their activity, blocking ion efflux (PubMed:16669787, PubMed:19665974, PubMed:21321328). Acts as a regulator of NaCl reabsorption in the distal nephron by mediating phosphorylation and activation of the thiazide-sensitive Na-Cl cotransporter SLC12A3/NCC in distal convoluted tubule cells of kidney downstream of WNK4 (PubMed:18270262). Mediates the inhibition of SLC4A4, SLC26A6 as well as CFTR activities (By similarity). Phosphorylates RELT (By similarity). {ECO:0000250|UniProtKB:Q9Z1W9, ECO:0000269|PubMed:12740379, ECO:0000269|PubMed:16669787, ECO:0000269|PubMed:18270262, ECO:0000269|PubMed:19665974, ECO:0000269|PubMed:21321328, ECO:0000269|PubMed:34289367}. | FUNCTION: [Isoform 1]: Apoptosis regulator that functions through different apoptotic signaling pathways (PubMed:27076518, PubMed:15102863, PubMed:20673843). Plays a roles as pro-apoptotic protein that positively regulates intrinsic apoptotic process in a BAX- and BAK1-dependent manner or in a BAX- and BAK1-independent manner (PubMed:27076518, PubMed:15102863). In response to endoplasmic reticulum stress promotes mitochondrial apoptosis through downstream BAX/BAK1 activation and positive regulation of PERK-mediated unfolded protein response (By similarity). Activates apoptosis independently of heterodimerization with survival-promoting BCL2 and BCL2L1 through induction of mitochondrial outer membrane permeabilization, in a BAX- and BAK1-independent manner, in response to inhibition of ERAD-proteasome degradation system, resulting in cytochrome c release (PubMed:27076518). In response to DNA damage, mediates intrinsic apoptotic process in a TP53-dependent manner (PubMed:15102863). Plays a role in granulosa cell apoptosis by CASP3 activation (PubMed:20673843). Plays a roles as anti-apoptotic protein during neuronal apoptotic process, by negatively regulating poly ADP-ribose polymerase-dependent cell death through regulation of neuronal calcium homeostasis and mitochondrial bioenergetics in response to NMDA excitation (By similarity). In addition to its role in apoptosis, may regulate trophoblast cell proliferation during the early stages of placental development, by acting on G1/S transition through regulation of CCNE1 expression (PubMed:19942931). May also play a role as an inducer of autophagy by disrupting interaction between MCL1 and BECN1 (PubMed:24113155). {ECO:0000250|UniProtKB:O35425, ECO:0000269|PubMed:15102863, ECO:0000269|PubMed:19942931, ECO:0000269|PubMed:20673843, ECO:0000269|PubMed:24113155, ECO:0000269|PubMed:27076518}.; FUNCTION: [Isoform 2]: Pro-apoptotic molecule exerting its function through the mitochondrial pathway. {ECO:0000269|PubMed:15775999}. |
| 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 |
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Kinase-Substrate Information of PASK_BOK |
| 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 |
| PASK | Q96RG2 | human | PASK | Q96RG2 | T1165 | LFYtFCGtIEYCAPE | Pkinase |
| PASK | Q96RG2 | human | PASK | Q96RG2 | T1161 | ERGKLFYtFCGtIEY | Pkinase |
| PASK | Q96RG2 | human | EEF1A1 | P68104 | T432 | AVRDMrQtVAVGVIk | GTP_EFTU_D3 |
| PASK | Q96RG2 | human | PASK | Q96RG2 | T307 | VGRARDGtTFPLSLk | |
| PASK | Q96RG2 | human | WDR5 | P61964 | S49 | AGHTkAVsSVKFsPN | WD40 |
| 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 |
| PASK | ID | Description | 0.00e+00 |
| PASK | GO:0043255 | regulation of carbohydrate biosynthetic process | 8.89e-03 |
| PASK | GO:0006109 | regulation of carbohydrate metabolic process | 1.23e-02 |
| PASK | GO:0016051 | carbohydrate biosynthetic process | 1.23e-02 |
| PASK | GO:0044829 | positive regulation by host of viral genome replication | 1.97e-02 |
| PASK | GO:0070874 | negative regulation of glycogen metabolic process | 1.97e-02 |
| PASK | GO:0051569 | regulation of histone H3-K4 methylation | 1.97e-02 |
| PASK | GO:0051571 | positive regulation of histone H3-K4 methylation | 1.97e-02 |
| PASK | GO:1900095 | regulation of dosage compensation by inactivation of X chromosome | 1.97e-02 |
| PASK | GO:0061684 | chaperone-mediated autophagy | 1.97e-02 |
| PASK | GO:0031062 | positive regulation of histone methylation | 1.97e-02 |
| PASK | GO:0031060 | regulation of histone methylation | 1.97e-02 |
| PASK | GO:0051568 | histone H3-K4 methylation | 1.97e-02 |
| PASK | GO:0044794 | positive regulation by host of viral process | 1.97e-02 |
| PASK | GO:0045722 | positive regulation of gluconeogenesis | 1.97e-02 |
| PASK | GO:0090043 | regulation of tubulin deacetylation | 1.97e-02 |
| PASK | GO:0090042 | tubulin deacetylation | 1.97e-02 |
| PASK | GO:0043576 | regulation of respiratory gaseous exchange | 1.97e-02 |
| PASK | GO:0044827 | modulation by host of viral genome replication | 1.97e-02 |
| PASK | GO:0005979 | regulation of glycogen biosynthetic process | 1.97e-02 |
| PASK | GO:0009048 | dosage compensation by inactivation of X chromosome | 1.97e-02 |
| PASK | GO:0010962 | regulation of glucan biosynthetic process | 1.97e-02 |
| PASK | GO:0007549 | dosage compensation | 1.97e-02 |
| PASK | GO:0034968 | histone lysine methylation | 1.97e-02 |
| PASK | GO:0090311 | regulation of protein deacetylation | 1.97e-02 |
| PASK | GO:0016571 | histone methylation | 1.97e-02 |
| PASK | GO:0045815 | transcription initiation-coupled chromatin remodeling | 1.97e-02 |
| PASK | GO:0070873 | regulation of glycogen metabolic process | 1.97e-02 |
| PASK | GO:0032885 | regulation of polysaccharide biosynthetic process | 1.97e-02 |
| PASK | GO:0043550 | regulation of lipid kinase activity | 1.97e-02 |
| PASK | GO:0031056 | regulation of histone modification | 1.97e-02 |
| PASK | GO:0071364 | cellular response to epidermal growth factor stimulus | 1.97e-02 |
| PASK | GO:0010907 | positive regulation of glucose metabolic process | 1.97e-02 |
| PASK | GO:0005978 | glycogen biosynthetic process | 1.97e-02 |
| PASK | GO:0009250 | glucan biosynthetic process | 1.97e-02 |
| PASK | GO:0032881 | regulation of polysaccharide metabolic process | 1.97e-02 |
| PASK | GO:0070849 | response to epidermal growth factor | 1.97e-02 |
| PASK | GO:1902275 | regulation of chromatin organization | 2.02e-02 |
| PASK | GO:0044788 | modulation by host of viral process | 2.02e-02 |
| PASK | GO:0006111 | regulation of gluconeogenesis | 2.04e-02 |
| PASK | GO:0018022 | peptidyl-lysine methylation | 2.04e-02 |
| PASK | GO:0045912 | negative regulation of carbohydrate metabolic process | 2.10e-02 |
| PASK | GO:0006476 | protein deacetylation | 2.12e-02 |
| PASK | GO:0000271 | polysaccharide biosynthetic process | 2.34e-02 |
| PASK | GO:0035601 | protein deacylation | 2.34e-02 |
| PASK | GO:0006414 | translational elongation | 2.34e-02 |
| PASK | GO:0098732 | macromolecule deacylation | 2.34e-02 |
| PASK | GO:0007585 | respiratory gaseous exchange by respiratory system | 2.35e-02 |
| PASK | GO:0005977 | glycogen metabolic process | 2.35e-02 |
| PASK | GO:0044042 | glucan metabolic process | 2.35e-02 |
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Related Drugs to PASK_BOK |
| 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 PASK-BOK 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 |
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Related Diseases to PASK_BOK |
| 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 |
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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 |
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