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Fusion gene ID: 9849 |
FusionGeneSummary for DGUOK_PRKD2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: DGUOK_PRKD2 | Fusion gene ID: 9849 | Hgene | Tgene | Gene symbol | DGUOK | PRKD2 | Gene ID | 1716 | 25865 |
| Gene name | deoxyguanosine kinase | protein kinase D2 | |
| Synonyms | MTDPS3|NCPH|PEOB4|dGK | HSPC187|PKD2|nPKC-D2 | |
| Cytomap | 2p13.1 | 19q13.32 | |
| Type of gene | protein-coding | protein-coding | |
| Description | deoxyguanosine kinase, mitochondrial | serine/threonine-protein kinase D2 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q16854 | Q9BZL6 | |
| Ensembl transtripts involved in fusion gene | ENST00000264093, ENST00000348222, ENST00000462685, ENST00000356837, | ENST00000601806, ENST00000291281, ENST00000433867, ENST00000600194, ENST00000595515, ENST00000593492, | |
| Fusion gene scores | * DoF score | 5 X 5 X 4=100 | 2 X 2 X 2=8 |
| # samples | 6 | 2 | |
| ** MAII score | log2(6/100*10)=-0.736965594166206 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: DGUOK [Title/Abstract] AND PRKD2 [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 | DGUOK | GO:0046122 | purine deoxyribonucleoside metabolic process | 8706825 |
| Tgene | PRKD2 | GO:0006468 | protein phosphorylation | 22228765 |
| Tgene | PRKD2 | GO:0018105 | peptidyl-serine phosphorylation | 18440775 |
| Tgene | PRKD2 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 17077180 |
| Tgene | PRKD2 | GO:0046777 | protein autophosphorylation | 17077180 |
| Tgene | PRKD2 | GO:0050852 | T cell receptor signaling pathway | 17077180 |
| 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 | BM750642 | DGUOK | chr2 | 74185304 | + | PRKD2 | chr19 | 47201109 | - |
| * 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 | ENST00000264093 | ENST00000601806 | DGUOK | chr2 | 74185304 | + | PRKD2 | chr19 | 47201109 | - |
| Frame-shift | ENST00000264093 | ENST00000291281 | DGUOK | chr2 | 74185304 | + | PRKD2 | chr19 | 47201109 | - |
| Frame-shift | ENST00000264093 | ENST00000433867 | DGUOK | chr2 | 74185304 | + | PRKD2 | chr19 | 47201109 | - |
| Frame-shift | ENST00000264093 | ENST00000600194 | DGUOK | chr2 | 74185304 | + | PRKD2 | chr19 | 47201109 | - |
| Frame-shift | ENST00000264093 | ENST00000595515 | DGUOK | chr2 | 74185304 | + | PRKD2 | chr19 | 47201109 | - |
| 5CDS-intron | ENST00000264093 | ENST00000593492 | DGUOK | chr2 | 74185304 | + | PRKD2 | chr19 | 47201109 | - |
| Frame-shift | ENST00000348222 | ENST00000601806 | DGUOK | chr2 | 74185304 | + | PRKD2 | chr19 | 47201109 | - |
| Frame-shift | ENST00000348222 | ENST00000291281 | DGUOK | chr2 | 74185304 | + | PRKD2 | chr19 | 47201109 | - |
| Frame-shift | ENST00000348222 | ENST00000433867 | DGUOK | chr2 | 74185304 | + | PRKD2 | chr19 | 47201109 | - |
| Frame-shift | ENST00000348222 | ENST00000600194 | DGUOK | chr2 | 74185304 | + | PRKD2 | chr19 | 47201109 | - |
| Frame-shift | ENST00000348222 | ENST00000595515 | DGUOK | chr2 | 74185304 | + | PRKD2 | chr19 | 47201109 | - |
| 5CDS-intron | ENST00000348222 | ENST00000593492 | DGUOK | chr2 | 74185304 | + | PRKD2 | chr19 | 47201109 | - |
| 3UTR-3CDS | ENST00000462685 | ENST00000601806 | DGUOK | chr2 | 74185304 | + | PRKD2 | chr19 | 47201109 | - |
| 3UTR-3CDS | ENST00000462685 | ENST00000291281 | DGUOK | chr2 | 74185304 | + | PRKD2 | chr19 | 47201109 | - |
| 3UTR-3CDS | ENST00000462685 | ENST00000433867 | DGUOK | chr2 | 74185304 | + | PRKD2 | chr19 | 47201109 | - |
| 3UTR-3CDS | ENST00000462685 | ENST00000600194 | DGUOK | chr2 | 74185304 | + | PRKD2 | chr19 | 47201109 | - |
| 3UTR-3CDS | ENST00000462685 | ENST00000595515 | DGUOK | chr2 | 74185304 | + | PRKD2 | chr19 | 47201109 | - |
| 3UTR-intron | ENST00000462685 | ENST00000593492 | DGUOK | chr2 | 74185304 | + | PRKD2 | chr19 | 47201109 | - |
| Frame-shift | ENST00000356837 | ENST00000601806 | DGUOK | chr2 | 74185304 | + | PRKD2 | chr19 | 47201109 | - |
| Frame-shift | ENST00000356837 | ENST00000291281 | DGUOK | chr2 | 74185304 | + | PRKD2 | chr19 | 47201109 | - |
| Frame-shift | ENST00000356837 | ENST00000433867 | DGUOK | chr2 | 74185304 | + | PRKD2 | chr19 | 47201109 | - |
| Frame-shift | ENST00000356837 | ENST00000600194 | DGUOK | chr2 | 74185304 | + | PRKD2 | chr19 | 47201109 | - |
| Frame-shift | ENST00000356837 | ENST00000595515 | DGUOK | chr2 | 74185304 | + | PRKD2 | chr19 | 47201109 | - |
| 5CDS-intron | ENST00000356837 | ENST00000593492 | DGUOK | chr2 | 74185304 | + | PRKD2 | chr19 | 47201109 | - |
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FusionProtFeatures for DGUOK_PRKD2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| DGUOK | PRKD2 |
| Phosphorylates deoxyguanosine and deoxyadenosine in themitochondrial matrix, with the highest efficiency fordeoxyguanosine. In non-replicating cells, where cytosolic dNTPsynthesis is down-regulated, mtDNA synthesis depends solely onDGUOK and TK2. Phosphorylates certain nucleoside analogs. Widelyused as target of antiviral and chemotherapeutic agents.{ECO:0000269|PubMed:11687801, ECO:0000269|PubMed:17073823,ECO:0000269|PubMed:23043144, ECO:0000269|PubMed:8706825}. | Serine/threonine-protein kinase that converts transientdiacylglycerol (DAG) signals into prolonged physiological effectsdownstream of PKC, and is involved in the regulation of cellproliferation via MAPK1/3 (ERK1/2) signaling, oxidative stress-induced NF-kappa-B activation, inhibition of HDAC7 transcriptionalrepression, signaling downstream of T-cell antigen receptor (TCR)and cytokine production, and plays a role in Golgi membranetrafficking, angiogenesis, secretory granule release and celladhesion (PubMed:15604256, PubMed:14743217, PubMed:17077180,PubMed:16928771, PubMed:17962809, PubMed:17951978,PubMed:18262756, PubMed:19192391, PubMed:19001381,PubMed:23503467, PubMed:28428613). May potentiate mitogenesisinduced by the neuropeptide bombesin by mediating an increase inthe duration of MAPK1/3 (ERK1/2) signaling, which leads toaccumulation of immediate-early gene products including FOS thatstimulate cell cycle progression (By similarity). In response tooxidative stress, is phosphorylated at Tyr-438 and Tyr-717 byABL1, which leads to the activation of PRKD2 without increasingits catalytic activity, and mediates activation of NF-kappa-B(PubMed:15604256, PubMed:28428613). In response to the activationof the gastrin receptor CCKBR, is phosphorylated at Ser-244 byCSNK1D and CSNK1E, translocates to the nucleus, phosphorylatesHDAC7, leading to nuclear export of HDAC7 and inhibition of HDAC7transcriptional repression of NR4A1/NUR77 (PubMed:17962809). UponTCR stimulation, is activated independently of ZAP70, translocatesfrom the cytoplasm to the nucleus and is required for interleukin-2 (IL2) promoter up-regulation (PubMed:17077180). During adaptiveimmune responses, is required in peripheral T-lymphocytes for theproduction of the effector cytokines IL2 and IFNG after TCRengagement and for optimal induction of antibody responses toantigens (By similarity). In epithelial cells stimulated withlysophosphatidic acid (LPA), is activated through a PKC-dependentpathway and mediates LPA-stimulated interleukin-8 (IL8) secretionvia a NF-kappa-B-dependent pathway (PubMed:16928771). During TCR-induced T-cell activation, interacts with and is activated by thetyrosine kinase LCK, which results in the activation of the NFATtranscription factors (PubMed:19192391). In the trans-Golginetwork (TGN), regulates the fission of transport vesicles thatare on their way to the plasma membrane and in polarized cells isinvolved in the transport of proteins from the TGN to thebasolateral membrane (PubMed:14743217). Plays an important role inendothelial cell proliferation and migration prior toangiogenesis, partly through modulation of the expression ofKDR/VEGFR2 and FGFR1, two key growth factor receptors involved inangiogenesis (PubMed:19001381). In secretory pathway, is requiredfor the release of chromogranin-A (CHGA)-containing secretorygranules from the TGN (PubMed:18262756). Downstream of PRKCA,plays important roles in angiotensin-2-induced monocyte adhesionto endothelial cells (PubMed:17951978). Plays a regulatory role inangiogenesis and tumor growth by phosphorylating a downstreammediator CIB1 isoform 2, resulting in vascular endothelial growthfactor A (VEGFA) secretion (PubMed:23503467).{ECO:0000250|UniProtKB:Q8BZ03, ECO:0000269|PubMed:14743217,ECO:0000269|PubMed:15604256, ECO:0000269|PubMed:16928771,ECO:0000269|PubMed:17077180, ECO:0000269|PubMed:17951978,ECO:0000269|PubMed:17962809, ECO:0000269|PubMed:18262756,ECO:0000269|PubMed:19001381, ECO:0000269|PubMed:19192391,ECO:0000269|PubMed:23503467, ECO:0000269|PubMed:28428613}. |
| 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 DGUOK_PRKD2 |
| 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 DGUOK_PRKD2 |
| 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 DGUOK_PRKD2 |
| 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 DGUOK_PRKD2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | DGUOK | C3151513 | MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) | 2 | CTD_human;ORPHANET;UNIPROT |
| Hgene | DGUOK | C3711385 | Deoxyguanosine Kinase Deficiency | 1 | CTD_human |
| Tgene | PRKD2 | C0023434 | Chronic Lymphocytic Leukemia | 1 | CTD_human |
| Tgene | PRKD2 | C0032460 | Polycystic Ovary Syndrome | 1 | CTD_human |
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