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Fusion gene ID: 26555 |
FusionGeneSummary for PDPK1_VPS28 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PDPK1_VPS28 | Fusion gene ID: 26555 | Hgene | Tgene | Gene symbol | PDPK1 | VPS28 | Gene ID | 5170 | 51160 |
| Gene name | 3-phosphoinositide dependent protein kinase 1 | VPS28, ESCRT-I subunit | |
| Synonyms | PDK1|PDPK2|PDPK2P|PRO0461 | - | |
| Cytomap | 16p13.3 | 8q24.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | 3-phosphoinositide-dependent protein kinase 13-phosphoinositide-dependent protein kinase 2 pseudogenePkB kinase like gene 1 | vacuolar protein sorting-associated protein 28 homologESCRT-I complex subunit VPS28vacuolar protein sorting 28 homologvacuolar protein sorting 28-like proteinyeast class E protein Vps28p homolog | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | O15530 | Q9UK41 | |
| Ensembl transtripts involved in fusion gene | ENST00000342085, ENST00000441549, ENST00000268673, ENST00000354836, ENST00000389224, ENST00000471311, | ENST00000526054, ENST00000529182, ENST00000377348, ENST00000292510, ENST00000526734, | |
| Fusion gene scores | * DoF score | 7 X 7 X 5=245 | 4 X 4 X 2=32 |
| # samples | 7 | 4 | |
| ** MAII score | log2(7/245*10)=-1.8073549220576 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/32*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: PDPK1 [Title/Abstract] AND VPS28 [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 |
| 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 |
| Tgene | VPS28 | GO:0031397 | negative regulation of protein ubiquitination | 18077552 |
| 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 |
| ChiTaRS3.1 | AK129716 | PDPK1 | chr16 | 2597923 | + | VPS28 | chr8 | 145650123 | - |
| * 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 |
| intron-3CDS | ENST00000342085 | ENST00000526054 | PDPK1 | chr16 | 2597923 | + | VPS28 | chr8 | 145650123 | - |
| intron-3CDS | ENST00000342085 | ENST00000529182 | PDPK1 | chr16 | 2597923 | + | VPS28 | chr8 | 145650123 | - |
| intron-3CDS | ENST00000342085 | ENST00000377348 | PDPK1 | chr16 | 2597923 | + | VPS28 | chr8 | 145650123 | - |
| intron-3CDS | ENST00000342085 | ENST00000292510 | PDPK1 | chr16 | 2597923 | + | VPS28 | chr8 | 145650123 | - |
| intron-intron | ENST00000342085 | ENST00000526734 | PDPK1 | chr16 | 2597923 | + | VPS28 | chr8 | 145650123 | - |
| intron-3CDS | ENST00000441549 | ENST00000526054 | PDPK1 | chr16 | 2597923 | + | VPS28 | chr8 | 145650123 | - |
| intron-3CDS | ENST00000441549 | ENST00000529182 | PDPK1 | chr16 | 2597923 | + | VPS28 | chr8 | 145650123 | - |
| intron-3CDS | ENST00000441549 | ENST00000377348 | PDPK1 | chr16 | 2597923 | + | VPS28 | chr8 | 145650123 | - |
| intron-3CDS | ENST00000441549 | ENST00000292510 | PDPK1 | chr16 | 2597923 | + | VPS28 | chr8 | 145650123 | - |
| intron-intron | ENST00000441549 | ENST00000526734 | PDPK1 | chr16 | 2597923 | + | VPS28 | chr8 | 145650123 | - |
| intron-3CDS | ENST00000268673 | ENST00000526054 | PDPK1 | chr16 | 2597923 | + | VPS28 | chr8 | 145650123 | - |
| intron-3CDS | ENST00000268673 | ENST00000529182 | PDPK1 | chr16 | 2597923 | + | VPS28 | chr8 | 145650123 | - |
| intron-3CDS | ENST00000268673 | ENST00000377348 | PDPK1 | chr16 | 2597923 | + | VPS28 | chr8 | 145650123 | - |
| intron-3CDS | ENST00000268673 | ENST00000292510 | PDPK1 | chr16 | 2597923 | + | VPS28 | chr8 | 145650123 | - |
| intron-intron | ENST00000268673 | ENST00000526734 | PDPK1 | chr16 | 2597923 | + | VPS28 | chr8 | 145650123 | - |
| intron-3CDS | ENST00000354836 | ENST00000526054 | PDPK1 | chr16 | 2597923 | + | VPS28 | chr8 | 145650123 | - |
| intron-3CDS | ENST00000354836 | ENST00000529182 | PDPK1 | chr16 | 2597923 | + | VPS28 | chr8 | 145650123 | - |
| intron-3CDS | ENST00000354836 | ENST00000377348 | PDPK1 | chr16 | 2597923 | + | VPS28 | chr8 | 145650123 | - |
| intron-3CDS | ENST00000354836 | ENST00000292510 | PDPK1 | chr16 | 2597923 | + | VPS28 | chr8 | 145650123 | - |
| intron-intron | ENST00000354836 | ENST00000526734 | PDPK1 | chr16 | 2597923 | + | VPS28 | chr8 | 145650123 | - |
| intron-3CDS | ENST00000389224 | ENST00000526054 | PDPK1 | chr16 | 2597923 | + | VPS28 | chr8 | 145650123 | - |
| intron-3CDS | ENST00000389224 | ENST00000529182 | PDPK1 | chr16 | 2597923 | + | VPS28 | chr8 | 145650123 | - |
| intron-3CDS | ENST00000389224 | ENST00000377348 | PDPK1 | chr16 | 2597923 | + | VPS28 | chr8 | 145650123 | - |
| intron-3CDS | ENST00000389224 | ENST00000292510 | PDPK1 | chr16 | 2597923 | + | VPS28 | chr8 | 145650123 | - |
| intron-intron | ENST00000389224 | ENST00000526734 | PDPK1 | chr16 | 2597923 | + | VPS28 | chr8 | 145650123 | - |
| intron-3CDS | ENST00000471311 | ENST00000526054 | PDPK1 | chr16 | 2597923 | + | VPS28 | chr8 | 145650123 | - |
| intron-3CDS | ENST00000471311 | ENST00000529182 | PDPK1 | chr16 | 2597923 | + | VPS28 | chr8 | 145650123 | - |
| intron-3CDS | ENST00000471311 | ENST00000377348 | PDPK1 | chr16 | 2597923 | + | VPS28 | chr8 | 145650123 | - |
| intron-3CDS | ENST00000471311 | ENST00000292510 | PDPK1 | chr16 | 2597923 | + | VPS28 | chr8 | 145650123 | - |
| intron-intron | ENST00000471311 | ENST00000526734 | PDPK1 | chr16 | 2597923 | + | VPS28 | chr8 | 145650123 | - |
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FusionProtFeatures for PDPK1_VPS28 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PDPK1 | VPS28 |
| Serine/threonine kinase which acts as a master kinase,phosphorylating and activating a subgroup of the AGC family ofprotein 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), proteinkinase PKN (PKN1 and PKN2). Plays a central role in thetransduction of signals from insulin by providing the activatingphosphorylation to PKB/AKT1, thus propagating the signal todownstream targets controlling cell proliferation and survival, aswell as glucose and amino acid uptake and storage. Negativelyregulates the TGF-beta-induced signaling by: modulating theassociation of SMAD3 and SMAD7 with TGF-beta receptor,phosphorylating SMAD2, SMAD3, SMAD4 and SMAD7, preventing thenuclear translocation of SMAD3 and SMAD4 and the translocation ofSMAD7 from the nucleus to the cytoplasm in response to TGF-beta.Activates PPARG transcriptional activity and promotes adipocytedifferentiation. Activates the NF-kappa-B pathway viaphosphorylation of IKKB. The tyrosine phosphorylated form iscrucial for the regulation of focal adhesions by angiotensin II.Controls proliferation, survival, and growth of developingpancreatic cells. Participates in the regulation of Ca(2+) entryand Ca(2+)-activated K(+) channels of mast cells. Essential forthe motility of vascular endothelial cells (ECs) and is involvedin the regulation of their chemotaxis. Plays a critical role incardiac homeostasis by serving as a dual effector for cellsurvival and beta-adrenergic response. Plays an important roleduring thymocyte development by regulating the expression of keynutrient receptors on the surface of pre-T cells and mediatingNotch-induced cell growth and proliferative responses. Providesnegative feedback inhibition to toll-like receptor-mediated NF-kappa-B activation in macrophages. Isoform 3 is catalyticallyinactive. {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}. | Component of the ESCRT-I complex, a regulator ofvesicular trafficking process. {ECO:0000269|PubMed:11916981}. |
| 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 PDPK1_VPS28 |
| 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 PDPK1_VPS28 |
| 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 |
| - 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 PDPK1_VPS28 |
| 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 |
| Hgene | PDPK1 | O15530 | DB00482 | Celecoxib | 3-phosphoinositide-dependent protein kinase 1 | small molecule | approved|investigational |
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RelatedDiseases for PDPK1_VPS28 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | PDPK1 | C0018801 | Heart failure | 1 | CTD_human |
| Hgene | PDPK1 | C0079744 | Diffuse Large B-Cell Lymphoma | 1 | CTD_human |
| Hgene | PDPK1 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
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