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Fusion gene ID: 8659 |
FusionGeneSummary for CSNK1G2_PDE5A |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CSNK1G2_PDE5A | Fusion gene ID: 8659 | Hgene | Tgene | Gene symbol | CSNK1G2 | PDE5A | Gene ID | 1455 | 8654 |
| Gene name | casein kinase 1 gamma 2 | phosphodiesterase 5A | |
| Synonyms | CK1g2 | CGB-PDE|CN5A|PDE5 | |
| Cytomap | 19p13.3 | 4q26 | |
| Type of gene | protein-coding | protein-coding | |
| Description | casein kinase I isoform gamma-2casein kinase ICKI-gamma 2casein kinase 1 isoform gamma-2 | cGMP-specific 3',5'-cyclic phosphodiesterasecGMP-binding cGMP-specific 3',5'-cyclic nucleotide phosphodiesterasecGMP-specific phosphodiesterase PDE5A2cGMP-specific phosphodiesterase type 5Aphosphodiesterase 5A, cGMP-specificphosphodiesterase isozyme | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | P78368 | O76074 | |
| Ensembl transtripts involved in fusion gene | ENST00000255641, ENST00000587123, | ENST00000354960, ENST00000394439, ENST00000264805, ENST00000512739, | |
| Fusion gene scores | * DoF score | 4 X 4 X 2=32 | 2 X 2 X 2=8 |
| # samples | 4 | 2 | |
| ** MAII score | log2(4/32*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: CSNK1G2 [Title/Abstract] AND PDE5A [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 | CSNK1G2 | GO:0018105 | peptidyl-serine phosphorylation | 25500533 |
| Tgene | PDE5A | GO:0046069 | cGMP catabolic process | 14687666 |
| 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 |
| TCGA | RV | SARC | TCGA-DX-A3U5-01A | CSNK1G2 | chr19 | 1969958 | + | PDE5A | chr4 | 120528452 | - |
| * 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 | ENST00000255641 | ENST00000354960 | CSNK1G2 | chr19 | 1969958 | + | PDE5A | chr4 | 120528452 | - |
| 5CDS-5UTR | ENST00000255641 | ENST00000394439 | CSNK1G2 | chr19 | 1969958 | + | PDE5A | chr4 | 120528452 | - |
| 5CDS-5UTR | ENST00000255641 | ENST00000264805 | CSNK1G2 | chr19 | 1969958 | + | PDE5A | chr4 | 120528452 | - |
| 5CDS-intron | ENST00000255641 | ENST00000512739 | CSNK1G2 | chr19 | 1969958 | + | PDE5A | chr4 | 120528452 | - |
| intron-3CDS | ENST00000587123 | ENST00000354960 | CSNK1G2 | chr19 | 1969958 | + | PDE5A | chr4 | 120528452 | - |
| intron-5UTR | ENST00000587123 | ENST00000394439 | CSNK1G2 | chr19 | 1969958 | + | PDE5A | chr4 | 120528452 | - |
| intron-5UTR | ENST00000587123 | ENST00000264805 | CSNK1G2 | chr19 | 1969958 | + | PDE5A | chr4 | 120528452 | - |
| intron-intron | ENST00000587123 | ENST00000512739 | CSNK1G2 | chr19 | 1969958 | + | PDE5A | chr4 | 120528452 | - |
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FusionProtFeatures for CSNK1G2_PDE5A |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CSNK1G2 | PDE5A |
| Serine/threonine-protein kinase. Casein kinases areoperationally defined by their preferential utilization of acidicproteins such as caseins as substrates. It can phosphorylate alarge number of proteins. Participates in Wnt signaling.Phosphorylates COL4A3BP/CERT, MTA1 and SMAD3. Involved in braindevelopment and vesicular trafficking and neurotransmitterreleasing from small synaptic vesicles. Regulates fast synaptictransmission mediated by glutamate. SMAD3 phosphorylation promotesits ligand-dependent ubiquitination and subsequent proteasomedegradation, thus inhibiting SMAD3-mediated TGF-beta responses.Hyperphosphorylation of the serine-repeat motif of COL4A3BP/CERTleads to its inactivation by dissociation from the Golgi complex,thus down-regulating ER-to-Golgi transport of ceramide andsphingomyelin synthesis. Triggers PER1 proteasomal degradationprobably through phosphorylation. {ECO:0000269|PubMed:15077195,ECO:0000269|PubMed:15342122, ECO:0000269|PubMed:15917222,ECO:0000269|PubMed:18794808, ECO:0000269|PubMed:19005213}. | Plays a role in signal transduction by regulating theintracellular concentration of cyclic nucleotides. Thisphosphodiesterase catalyzes the specific hydrolysis of cGMP to 5'-GMP (PubMed:9714779, PubMed:15489334). Specifically regulatesnitric-oxide-generated cGMP (PubMed:15489334).{ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9714779}. |
| 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 CSNK1G2_PDE5A |
| 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 CSNK1G2_PDE5A |
| 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 |
| CSNK1G2 | COL4A3BP, SMAD3, PER1, MTA1, C2orf44, RAP1GAP, RUNDC3B, DBNDD2, APP, PPP1R14A, APPBP2, KRTAP10-7, HOXB5, TMEM231, MAPK14, TMEM185A, CSNK1G1, SORT1, G3BP1, ATL2, CSNK1G3, GINS2, GINS4, DCAF16, GINS3, LRRIQ1, GINS1, SDC1, NISCH | PDE5A | AIPL1, MIOS, FGFR1OP, BLM, SUPT5H, WDR24, PATZ1, FKBP15 |
| - 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 CSNK1G2_PDE5A |
| 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 |
| Tgene | PDE5A | O76074 | DB00277 | Theophylline | cGMP-specific 3',5'-cyclic phosphodiesterase | small molecule | approved |
| Tgene | PDE5A | O76074 | DB00862 | Vardenafil | cGMP-specific 3',5'-cyclic phosphodiesterase | small molecule | approved |
| Tgene | PDE5A | O76074 | DB00975 | Dipyridamole | cGMP-specific 3',5'-cyclic phosphodiesterase | small molecule | approved |
| Tgene | PDE5A | O76074 | DB06237 | Avanafil | cGMP-specific 3',5'-cyclic phosphodiesterase | small molecule | approved |
| Tgene | PDE5A | O76074 | DB00203 | Sildenafil | cGMP-specific 3',5'-cyclic phosphodiesterase | small molecule | approved|investigational |
| Tgene | PDE5A | O76074 | DB00806 | Pentoxifylline | cGMP-specific 3',5'-cyclic phosphodiesterase | small molecule | approved|investigational |
| Tgene | PDE5A | O76074 | DB00820 | Tadalafil | cGMP-specific 3',5'-cyclic phosphodiesterase | small molecule | approved|investigational |
| Tgene | PDE5A | O76074 | DB06267 | Udenafil | cGMP-specific 3',5'-cyclic phosphodiesterase | small molecule | approved|investigational |
| Tgene | PDE5A | O76074 | DB04272 | Citric Acid | cGMP-specific 3',5'-cyclic phosphodiesterase | small molecule | approved|nutraceutical|vet_approved |
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RelatedDiseases for CSNK1G2_PDE5A |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | PDE5A | C0027627 | Neoplasm Metastasis | 1 | CTD_human |
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