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Fusion gene ID: 9879 |
FusionGeneSummary for DHODH_PKN1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: DHODH_PKN1 | Fusion gene ID: 9879 | Hgene | Tgene | Gene symbol | DHODH | PKN1 | Gene ID | 1723 | 5585 |
| Gene name | dihydroorotate dehydrogenase (quinone) | protein kinase N1 | |
| Synonyms | DHOdehase|POADS|URA1 | DBK|PAK-1|PAK1|PKN|PKN-ALPHA|PRK1|PRKCL1 | |
| Cytomap | 16q22.2 | 19p13.12 | |
| Type of gene | protein-coding | protein-coding | |
| Description | dihydroorotate dehydrogenase (quinone), mitochondrialdihydroorotate oxidasehuman complement of yeast URA1 | serine/threonine-protein kinase N1protease-activated kinase 1protein kinase C-like 1protein kinase C-like PKNprotein kinase C-related kinase 1protein kinase PKN-alphaserine-threonine kinase Nserine/threonine protein kinase N | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q02127 | Q16512 | |
| Ensembl transtripts involved in fusion gene | ENST00000572887, ENST00000219240, ENST00000573922, | ENST00000242783, ENST00000587429, ENST00000342216, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 4 X 5 X 5=100 |
| # samples | 1 | 6 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(6/100*10)=-0.736965594166206 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: DHODH [Title/Abstract] AND PKN1 [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 | PKN1 | GO:0006357 | regulation of transcription by RNA polymerase II | 12514133 |
| Tgene | PKN1 | GO:0006468 | protein phosphorylation | 17332740 |
| Tgene | PKN1 | GO:0035407 | histone H3-T11 phosphorylation | 18066052 |
| 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 | BF837427 | DHODH | chr16 | 72051051 | + | PKN1 | chr19 | 14574947 | - |
| * 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 | ENST00000572887 | ENST00000242783 | DHODH | chr16 | 72051051 | + | PKN1 | chr19 | 14574947 | - |
| intron-intron | ENST00000572887 | ENST00000587429 | DHODH | chr16 | 72051051 | + | PKN1 | chr19 | 14574947 | - |
| intron-intron | ENST00000572887 | ENST00000342216 | DHODH | chr16 | 72051051 | + | PKN1 | chr19 | 14574947 | - |
| intron-3CDS | ENST00000219240 | ENST00000242783 | DHODH | chr16 | 72051051 | + | PKN1 | chr19 | 14574947 | - |
| intron-intron | ENST00000219240 | ENST00000587429 | DHODH | chr16 | 72051051 | + | PKN1 | chr19 | 14574947 | - |
| intron-intron | ENST00000219240 | ENST00000342216 | DHODH | chr16 | 72051051 | + | PKN1 | chr19 | 14574947 | - |
| intron-3CDS | ENST00000573922 | ENST00000242783 | DHODH | chr16 | 72051051 | + | PKN1 | chr19 | 14574947 | - |
| intron-intron | ENST00000573922 | ENST00000587429 | DHODH | chr16 | 72051051 | + | PKN1 | chr19 | 14574947 | - |
| intron-intron | ENST00000573922 | ENST00000342216 | DHODH | chr16 | 72051051 | + | PKN1 | chr19 | 14574947 | - |
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FusionProtFeatures for DHODH_PKN1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| DHODH | PKN1 |
| Catalyzes the conversion of dihydroorotate to orotatewith quinone as electron acceptor. | PKC-related serine/threonine-protein kinase involved invarious processes such as regulation of the intermediate filamentsof the actin cytoskeleton, cell migration, tumor cell invasion andtranscription regulation. Part of a signaling cascade that beginswith the activation of the adrenergic receptor ADRA1B and leads tothe activation of MAPK14. Regulates the cytoskeletal network byphosphorylating proteins such as VIM and neurofilament proteinsNEFH, NEFL and NEFM, leading to inhibit their polymerization.Phosphorylates 'Ser-575', 'Ser-637' and 'Ser-669' of MAPT/Tau,lowering its ability to bind to microtubules, resulting indisruption of tubulin assembly. Acts as a key coactivator ofandrogen receptor (ANDR)-dependent transcription, by beingrecruited to ANDR target genes and specifically mediatingphosphorylation of 'Thr-11' of histone H3 (H3T11ph), a specifictag for epigenetic transcriptional activation that promotesdemethylation of histone H3 'Lys-9' (H3K9me) by KDM4C/JMJD2C.Phosphorylates HDAC5, HDAC7 and HDAC9, leading to impair theirimport in the nucleus. Phosphorylates 'Thr-38' of PPP1R14A, 'Ser-159', 'Ser-163' and 'Ser-170' of MARCKS, and GFAP. Able tophosphorylate RPS6 in vitro. {ECO:0000269|PubMed:11104762,ECO:0000269|PubMed:12514133, ECO:0000269|PubMed:17332740,ECO:0000269|PubMed:18066052, ECO:0000269|PubMed:20188095,ECO:0000269|PubMed:21224381, ECO:0000269|PubMed:21754995,ECO:0000269|PubMed:24248594, ECO:0000269|PubMed:8557118,ECO:0000269|PubMed:8621664, ECO:0000269|PubMed:9175763}. |
| 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 DHODH_PKN1 |
| 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 DHODH_PKN1 |
| 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 DHODH_PKN1 |
| 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 | DHODH | Q02127 | DB01117 | Atovaquone | Dihydroorotate dehydrogenase (quinone), mitochondrial | small molecule | approved |
| Hgene | DHODH | Q02127 | DB08880 | Teriflunomide | Dihydroorotate dehydrogenase (quinone), mitochondrial | small molecule | approved |
| Hgene | DHODH | Q02127 | DB01097 | Leflunomide | Dihydroorotate dehydrogenase (quinone), mitochondrial | small molecule | approved|investigational |
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RelatedDiseases for DHODH_PKN1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | DHODH | C0002895 | Anemia, Sickle Cell | 1 | CTD_human |
| Hgene | DHODH | C0005283 | beta Thalassemia | 1 | CTD_human |
| Hgene | DHODH | C0023440 | Acute Erythroblastic Leukemia | 1 | CTD_human |
| Hgene | DHODH | C0037889 | Hereditary spherocytosis | 1 | CTD_human |
| Hgene | DHODH | C0265257 | Genee-Wiedemann syndrome | 1 | ORPHANET;UNIPROT |
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