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Kinase Fusion Gene:PDPK1_UBALD1 |
Kinase Fusion Protein Summary |
 Kinase Fusion gene summary |
| Kinase Fusion partner gene information | Kinase Fusion gene name: PDPK1_UBALD1 | KinaseFusionDB ID: KFG4595 | FusionGDB2.0 ID: KFG4595 | Hgene | Tgene | Gene symbol | PDPK1 | UBALD1 | Gene ID | 5170 | 124402 | |
| Gene name | 3-phosphoinositide dependent protein kinase 1 | UBA like domain containing 1 | ||||||||||
| Synonyms | PDK1|PDPK2|PDPK2P|PRO0461 | FAM100A|PP11303 | ||||||||||
| Cytomap | 16p13.3 | 16p13.3 | ||||||||||
| Type of gene | protein-coding | protein-coding | ||||||||||
| Description | 3-phosphoinositide-dependent protein kinase 13-phosphoinositide-dependent protein kinase 2 pseudogenePkB kinase like gene 1Putative 3-phosphoinositide-dependent protein kinase 2 | UBA-like domain-containing protein 1family with sequence similarity 100, member Aprotein FAM100A | ||||||||||
| Modification date | 20240403 | 20240305 | ||||||||||
| UniProtAcc | O15530 | Q8TB05 | ||||||||||
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000268673, ENST00000342085, ENST00000354836, ENST00000441549, ENST00000389224, ENST00000471311, | ENST00000587615, ENST00000587649, ENST00000590891, ENST00000590965, ENST00000591897, ENST00000283474, ENST00000591401, | |||||||||
| Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: PDPK1 [Title/Abstract] AND UBALD1 [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | PDPK1(2588137)-UBALD1(4660556), # 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 |
| Hgene | PDPK1 | GO:0006468 | protein phosphorylation | 14585963 |
| Hgene | PDPK1 | GO:0006469 | negative regulation of protein kinase activity | 9373175 |
| Hgene | PDPK1 | GO:0018107 | peptidyl-threonine phosphorylation | 9368760 |
| Hgene | PDPK1 | GO:0030512 | negative regulation of transforming growth factor beta receptor signaling pathway | 17327236 |
| Hgene | PDPK1 | GO:0032148 | activation of protein kinase B activity | 9368760 |
| Hgene | PDPK1 | GO:0035556 | intracellular signal transduction | 14749367 |
| Hgene | PDPK1 | GO:0051281 | positive regulation of release of sequestered calcium ion into cytosol | 22454520 |
| Kinase Fusion gene breakpoints across PDPK1 (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 UBALD1 (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-FU-A3TQ-01A | PDPK1 | chr16 | 2588137 | UBALD1 | chr16 | 4660556 |
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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/:2588137/:4660556) - 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 |
| PDPK1 | UBALD1 |
| FUNCTION: Serine/threonine kinase which acts as a master kinase, phosphorylating and activating a subgroup of the AGC family of protein kinases. Its targets include: protein kinase B (PKB/AKT1, PKB/AKT2, PKB/AKT3), p70 ribosomal protein S6 kinase (RPS6KB1), p90 ribosomal protein S6 kinase (RPS6KA1, RPS6KA2 and RPS6KA3), cyclic AMP-dependent protein kinase (PRKACA), protein kinase C (PRKCD and PRKCZ), serum and glucocorticoid-inducible kinase (SGK1, SGK2 and SGK3), p21-activated kinase-1 (PAK1), protein kinase PKN (PKN1 and PKN2). Plays a central role in the transduction of signals from insulin by providing the activating phosphorylation to PKB/AKT1, thus propagating the signal to downstream targets controlling cell proliferation and survival, as well as glucose and amino acid uptake and storage. Negatively regulates the TGF-beta-induced signaling by: modulating the association of SMAD3 and SMAD7 with TGF-beta receptor, phosphorylating SMAD2, SMAD3, SMAD4 and SMAD7, preventing the nuclear translocation of SMAD3 and SMAD4 and the translocation of SMAD7 from the nucleus to the cytoplasm in response to TGF-beta. Activates PPARG transcriptional activity and promotes adipocyte differentiation. Activates the NF-kappa-B pathway via phosphorylation of IKKB. The tyrosine phosphorylated form is crucial for the regulation of focal adhesions by angiotensin II. Controls proliferation, survival, and growth of developing pancreatic cells. Participates in the regulation of Ca(2+) entry and Ca(2+)-activated K(+) channels of mast cells. Essential for the motility of vascular endothelial cells (ECs) and is involved in the regulation of their chemotaxis. Plays a critical role in cardiac homeostasis by serving as a dual effector for cell survival and beta-adrenergic response. Plays an important role during thymocyte development by regulating the expression of key nutrient receptors on the surface of pre-T cells and mediating Notch-induced cell growth and proliferative responses. Provides negative feedback inhibition to toll-like receptor-mediated NF-kappa-B activation in macrophages. Isoform 3 is catalytically inactive. {ECO:0000269|PubMed:10226025, ECO:0000269|PubMed:10480933, ECO:0000269|PubMed:10995762, ECO:0000269|PubMed:12167717, ECO:0000269|PubMed:14585963, ECO:0000269|PubMed:14604990, ECO:0000269|PubMed:16207722, ECO:0000269|PubMed:16251192, ECO:0000269|PubMed:17327236, ECO:0000269|PubMed:17371830, ECO:0000269|PubMed:18835241, ECO:0000269|PubMed:9094314, ECO:0000269|PubMed:9445476, ECO:0000269|PubMed:9707564, ECO:0000269|PubMed:9768361}. |
| 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 PDPK1_UBALD1 |
| 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 |
| PDPK1 | O15530 | human | SGK2 | Q9HBY8-1 | T253 | EPEDTtStFCGtPEY | Pkinase |
| PDPK1 | O15530 | human | PDPK1 | O15530 | S393 | MQVSSSSssHsLsAS | |
| PDPK1 | O15530 | human | EPAS1 | Q99814 | T324 | VWLETQGtVIYNPRN | PAS_3 |
| PDPK1 | O15530 | human | PRKCZ | Q05513 | T410 | GPGDtTstFCGtPNy | Pkinase |
| PDPK1 | O15530 | human | RPS6KB1 | P23443 | T412 | NQVFLGFtyVAPsVL | Pkinase_C |
| PDPK1 | O15530 | human | AKT1 | P31749 | S473 | RPHFPQFsysAsGtA | Pkinase_C |
| PDPK1 | O15530 | human | PIP5K1C | O60331 | S448 | NTVFRKNsSLKSsPS | |
| PDPK1 | O15530 | human | RPS6KA1 | Q15418 | S221 | DHEKKAysFCGtVEy | Pkinase |
| PDPK1 | O15530 | human | PDPK1 | O15530 | S410 | GLPQRSGsNIEQYIH | |
| PDPK1 | O15530 | human | MAP2K1 | Q02750 | S222 | LIDsMANsFVGtRSY | Pkinase |
| PDPK1 | O15530 | human | AKT3 | Q9Y243 | T305 | tDAAtMKtFCGtPEy | Pkinase |
| PDPK1 | O15530 | human | PDPK1 | O15530 | S25 | VVLCsCPsPSMVRTQ | |
| PDPK1 | O15530 | human | SGK1 | O00141 | T256 | EHNSTTStFCGTPEY | Pkinase |
| PDPK1 | O15530 | human | RPS6KB1 | P23443-2 | T229 | HDGTVTHtFCGTIEY | Pkinase |
| PDPK1 | O15530 | human | PDPK1 | O15530 | S396 | SSSSssHsLsASDTG | |
| PDPK1 | O15530 | human | PGK1 | P00558 | T243 | IGGGMAFtFLKVLNN | PGK |
| PDPK1 | O15530 | human | PKN1 | Q16512 | S773 | MGyGDRtstFCGtPE | Pkinase |
| PDPK1 | O15530 | human | PDHA1 | P08559 | S293 | TYRyHGHsMsDPGVs | E1_dh |
| PDPK1 | O15530 | human | PDPK1 | O15530 | S241 | skQARANsFVGtAQy | Pkinase |
| PDPK1 | O15530 | human | AKT2 | P31751 | T309 | sDGAtMKtFCGtPEy | Pkinase |
| PDPK1 | O15530 | human | ITGB3 | P05106 | T779 | LyKEAtstFTNItyR | Integrin_b_cyt |
| PDPK1 | O15530 | human | RPS6KB1 | P23443 | S394 | TRQtPVDsPDDStLS | Pkinase_C |
| PDPK1 | O15530 | human | RPS6KB1 | P23443 | T252 | HDGtVtHtFCGtIEY | Pkinase |
| PDPK1 | O15530 | human | PRKACA | P17612 | T198 | RVKGRtWtLCGtPEy | Pkinase |
| PDPK1 | O15530 | human | PDPK1 | O15530 | T513 | PEAkNFKtFFVHTPN | PH_3 |
| PDPK1 | O15530 | human | SGK3 | Q96BR1 | T320 | AIsDTtTtFCGtPEY | Pkinase |
| PDPK1 | O15530 | human | MAP2K2 | P36507 | S226 | LIDsMANsFVGtRSY | Pkinase |
| PDPK1 | O15530 | human | PAK1 | Q13153 | T423 | PEQSkRstMVGtPYW | Pkinase |
| PDPK1 | O15530 | human | PRKCD | Q05655 | T507 | FGEsRAstFCGtPDy | Pkinase |
| PDPK1 | O15530 | human | MAP3K5 | Q99683 | S966 | NEYLRsIsLPVPVLV | |
| PDPK1 | O15530 | human | PKN1 | Q16512 | T774 | GyGDRtstFCGtPEF | Pkinase |
| PDPK1 | O15530 | human | AKT1 | P31749 | T308 | kDGAtMKtFCGtPEy | Pkinase |
| PDPK1 | O15530 | human | PKN2 | Q16513 | T816 | GyGDRtstFCGtPEF | Pkinase |
| PDPK1 | O15530 | human | PRKCB | P05771 | T500 | WDGVttktFCGtPDy | Pkinase |
| PDPK1 | O15530 | human | PRKCE | Q02156 | T566 | LNGVTTTtFCGTPDy | Pkinase |
| 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 |
| PDPK1 | ID | Description | 0.00e+00 |
| PDPK1 | GO:0018105 | peptidyl-serine phosphorylation | 1.30e-24 |
| PDPK1 | GO:0018209 | peptidyl-serine modification | 1.44e-24 |
| PDPK1 | GO:0071375 | cellular response to peptide hormone stimulus | 6.79e-08 |
| PDPK1 | GO:0008286 | insulin receptor signaling pathway | 8.32e-08 |
| PDPK1 | GO:1901653 | cellular response to peptide | 2.14e-07 |
| PDPK1 | GO:0045860 | positive regulation of protein kinase activity | 5.21e-07 |
| PDPK1 | GO:0043434 | response to peptide hormone | 5.21e-07 |
| PDPK1 | GO:0032869 | cellular response to insulin stimulus | 1.37e-06 |
| PDPK1 | GO:0033674 | positive regulation of kinase activity | 1.42e-06 |
| PDPK1 | GO:0051347 | positive regulation of transferase activity | 6.29e-06 |
| PDPK1 | GO:0032868 | response to insulin | 6.29e-06 |
| PDPK1 | GO:1903829 | positive regulation of protein localization | 1.55e-05 |
| PDPK1 | GO:0046627 | negative regulation of insulin receptor signaling pathway | 2.92e-05 |
| PDPK1 | GO:1900077 | negative regulation of cellular response to insulin stimulus | 3.00e-05 |
| PDPK1 | GO:0010631 | epithelial cell migration | 4.14e-05 |
| PDPK1 | GO:0090132 | epithelium migration | 4.14e-05 |
| PDPK1 | GO:0090130 | tissue migration | 4.26e-05 |
| PDPK1 | GO:0048009 | insulin-like growth factor receptor signaling pathway | 5.59e-05 |
| PDPK1 | GO:0010763 | positive regulation of fibroblast migration | 7.88e-05 |
| PDPK1 | GO:0071902 | positive regulation of protein serine/threonine kinase activity | 7.99e-05 |
| PDPK1 | GO:0050994 | regulation of lipid catabolic process | 9.16e-05 |
| PDPK1 | GO:0032006 | regulation of TOR signaling | 9.24e-05 |
| PDPK1 | GO:0044539 | long-chain fatty acid import into cell | 9.71e-05 |
| PDPK1 | GO:0071900 | regulation of protein serine/threonine kinase activity | 1.06e-04 |
| PDPK1 | GO:0046626 | regulation of insulin receptor signaling pathway | 1.22e-04 |
| PDPK1 | GO:0043410 | positive regulation of MAPK cascade | 1.22e-04 |
| PDPK1 | GO:0050673 | epithelial cell proliferation | 1.27e-04 |
| PDPK1 | GO:1900076 | regulation of cellular response to insulin stimulus | 1.27e-04 |
| PDPK1 | GO:0140354 | lipid import into cell | 1.27e-04 |
| PDPK1 | GO:0031929 | TOR signaling | 1.27e-04 |
| PDPK1 | GO:0051222 | positive regulation of protein transport | 1.28e-04 |
| PDPK1 | GO:0001667 | ameboidal-type cell migration | 1.36e-04 |
| PDPK1 | GO:0010634 | positive regulation of epithelial cell migration | 1.49e-04 |
| PDPK1 | GO:0010827 | regulation of glucose transmembrane transport | 1.52e-04 |
| PDPK1 | GO:1904951 | positive regulation of establishment of protein localization | 1.52e-04 |
| PDPK1 | GO:1905475 | regulation of protein localization to membrane | 1.57e-04 |
| PDPK1 | GO:0045913 | positive regulation of carbohydrate metabolic process | 1.63e-04 |
| PDPK1 | GO:0051279 | regulation of release of sequestered calcium ion into cytosol | 1.75e-04 |
| PDPK1 | GO:0006006 | glucose metabolic process | 1.98e-04 |
| PDPK1 | GO:0002433 | immune response-regulating cell surface receptor signaling pathway involved in phagocytosis | 2.07e-04 |
| PDPK1 | GO:0038096 | Fc-gamma receptor signaling pathway involved in phagocytosis | 2.07e-04 |
| PDPK1 | GO:0050996 | positive regulation of lipid catabolic process | 2.27e-04 |
| PDPK1 | GO:0048661 | positive regulation of smooth muscle cell proliferation | 3.00e-04 |
| PDPK1 | GO:1901655 | cellular response to ketone | 3.55e-04 |
| PDPK1 | GO:0002431 | Fc receptor mediated stimulatory signaling pathway | 3.55e-04 |
| PDPK1 | GO:1905477 | positive regulation of protein localization to membrane | 3.55e-04 |
| PDPK1 | GO:0038094 | Fc-gamma receptor signaling pathway | 3.76e-04 |
| PDPK1 | GO:0019318 | hexose metabolic process | 4.03e-04 |
| PDPK1 | GO:0090398 | cellular senescence | 4.06e-04 |
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Related Drugs to PDPK1_UBALD1 |
| 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 PDPK1-UBALD1 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 PDPK1_UBALD1 |
| 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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