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Fusion gene ID: 14492 |
FusionGeneSummary for GBF1_TRPC6 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: GBF1_TRPC6 | Fusion gene ID: 14492 | Hgene | Tgene | Gene symbol | GBF1 | TRPC6 | Gene ID | 80142 | 7225 |
| Gene name | prostaglandin E synthase 2 | transient receptor potential cation channel subfamily C member 6 | |
| Synonyms | C9orf15|GBF-1|GBF1|PGES2|mPGES-2 | FSGS2|TRP6 | |
| Cytomap | 9q34.11 | 11q22.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | prostaglandin E synthase 2GATE-binding factor 1gamma-interferon-activated transcriptional element-binding factor 1mPGE synthase-2membrane-associated prostaglandin E synthase 2microsomal prostaglandin E synthase-2prostaglandin-H(2) E-isomerase | short transient receptor potential channel 6TRP-6focal segmental glomerulosclerosis 2transient receptor protein 6 | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q92538 | Q9Y210 | |
| Ensembl transtripts involved in fusion gene | ENST00000369983, ENST00000476019, | ENST00000526713, ENST00000344327, ENST00000532133, ENST00000360497, ENST00000348423, | |
| Fusion gene scores | * DoF score | 11 X 7 X 8=616 | 5 X 2 X 5=50 |
| # samples | 12 | 5 | |
| ** MAII score | log2(12/616*10)=-2.35989594508638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/50*10)=0 | |
| Context | PubMed: GBF1 [Title/Abstract] AND TRPC6 [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 | TRPC6 | GO:0032414 | positive regulation of ion transmembrane transporter activity | 10998353 |
| Tgene | TRPC6 | GO:0051928 | positive regulation of calcium ion transport | 10998353 |
| 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-A23T-01A | GBF1 | chr10 | 104005538 | + | TRPC6 | chr11 | 101375529 | - |
| * 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 |
| 5UTR-5UTR | ENST00000369983 | ENST00000526713 | GBF1 | chr10 | 104005538 | + | TRPC6 | chr11 | 101375529 | - |
| 5UTR-5UTR | ENST00000369983 | ENST00000344327 | GBF1 | chr10 | 104005538 | + | TRPC6 | chr11 | 101375529 | - |
| 5UTR-5UTR | ENST00000369983 | ENST00000532133 | GBF1 | chr10 | 104005538 | + | TRPC6 | chr11 | 101375529 | - |
| 5UTR-5UTR | ENST00000369983 | ENST00000360497 | GBF1 | chr10 | 104005538 | + | TRPC6 | chr11 | 101375529 | - |
| 5UTR-5UTR | ENST00000369983 | ENST00000348423 | GBF1 | chr10 | 104005538 | + | TRPC6 | chr11 | 101375529 | - |
| intron-5UTR | ENST00000476019 | ENST00000526713 | GBF1 | chr10 | 104005538 | + | TRPC6 | chr11 | 101375529 | - |
| intron-5UTR | ENST00000476019 | ENST00000344327 | GBF1 | chr10 | 104005538 | + | TRPC6 | chr11 | 101375529 | - |
| intron-5UTR | ENST00000476019 | ENST00000532133 | GBF1 | chr10 | 104005538 | + | TRPC6 | chr11 | 101375529 | - |
| intron-5UTR | ENST00000476019 | ENST00000360497 | GBF1 | chr10 | 104005538 | + | TRPC6 | chr11 | 101375529 | - |
| intron-5UTR | ENST00000476019 | ENST00000348423 | GBF1 | chr10 | 104005538 | + | TRPC6 | chr11 | 101375529 | - |
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FusionProtFeatures for GBF1_TRPC6 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| GBF1 | TRPC6 |
| Guanine-nucleotide exchange factor (GEF) for members ofthe Arf family of small GTPases involved in trafficking in theearly secretory pathway; its GEF activity initiates the coating ofnascent vesicles via the localized generation of activated ARFsthrough replacement of GDP with GTP. Recruitment to cis-Golgimembranes requires membrane association of Arf-GDP and can beregulated by ARF1, ARF3, ARF4 and ARF5. Involved in therecruitment of the COPI coat complex to the endoplasmic reticulumexit sites (ERES), and the endoplasmic reticulum-Golgiintermediate (ERGIC) and cis-Golgi compartments which implicatesARF1 activation. Involved in COPI vesicle-dependent retrogradetransport from the ERGIC and cis-Golgi compartments to theendoplasmic reticulum (ER) (PubMed:16926190, PubMed:17956946,PubMed:18003980, PubMed:12047556, PubMed:12808027,PubMed:19039328, PubMed:24213530). Involved in the trans-Golginetwork recruitment of GGA1, GGA2, GGA3, BIG1, BIG2, and the AP-1adaptor protein complex related to chlathrin-dependent transport;the function requires its GEF activity (probably at least in parton ARF4 and ARF5) (PubMed:23386609). Has GEF activity towards ARF1(PubMed:15616190). Has in vitro GEF activity towards ARF5 (Bysimilarity). Involved in the processing of PSAP (PubMed:17666033).Required for the assembly of the Golgi apparatus (PubMed:12808027,PubMed:18003980). The AMPK-phosphorylated form is involved inGolgi disassembly during mitotis and under stress conditions(PubMed:18063581, PubMed:23418352). May be involved in the COPIvesicle-dependent recruitment of PNPLA2 to lipid droplets;however, this function is under debate (PubMed:19461073,PubMed:22185782). In neutrophils, involved in G protein-coupledreceptor (GPCR)-mediated chemotaxis und superoxide production.Proposed to be recruited by phosphatidylinositol-phosphatesgenerated upon GPCR stimulation to the leading edge where itrecruits and activates ARF1, and is involved in recruitment ofGIT2 and the NADPH oxidase complex (PubMed:22573891).{ECO:0000250|UniProtKB:Q9R1D7, ECO:0000269|PubMed:12047556,ECO:0000269|PubMed:12808027, ECO:0000269|PubMed:15616190,ECO:0000269|PubMed:16926190, ECO:0000269|PubMed:17666033,ECO:0000269|PubMed:17956946, ECO:0000269|PubMed:18003980,ECO:0000269|PubMed:18063581, ECO:0000269|PubMed:19461073,ECO:0000269|PubMed:22185782, ECO:0000269|PubMed:22573891,ECO:0000269|PubMed:23386609, ECO:0000269|PubMed:23418352,ECO:0000269|PubMed:24213530, ECO:0000305|PubMed:19039328,ECO:0000305|PubMed:22573891}. | Thought to form a receptor-activated non-selectivecalcium permeant cation channel (PubMed:19936226,PubMed:23291369). Probably is operated by a phosphatidylinositolsecond messenger system activated by receptor tyrosine kinases orG-protein coupled receptors. Activated by diacylglycerol (DAG) ina membrane-delimited fashion, independently of protein kinase C(PubMed:26892346). Seems not to be activated by intracellularcalcium store depletion. {ECO:0000269|PubMed:19936226,ECO:0000269|PubMed:23291369, ECO:0000269|PubMed:26892346}. |
| 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 GBF1_TRPC6 |
| 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 GBF1_TRPC6 |
| 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 |
| GBF1 | YWHAG, COPG1, KBTBD7, VCP, HDAC6, EGFR, PNPLA2, YWHAB, BIRC6, EPS15L1, NUP85, PLEC, CCAR2, NCAPH, RABL6, IRS4, IVNS1ABP, FBXW11, BTRC, SPACA1, PNKD, LYPD3, KIF4A, PUS7, RBM26, VARS, NTRK1, SRPK2, FBXO7, ZSCAN26, FOXB1, FOXG1, FOXI2, FOXL1, CDC73, TMEM206, CHRM3, GML, MILR1, DLK2, NPY2R, EPHA1, UBC | TRPC6 | FYN, SRC, TRPC2, ITPR1, TRPC1, TRPC4, TRPC5, TRPC3, TRPC6, TRPC7, ITPR3, RNF24 |
| - 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 GBF1_TRPC6 |
| 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 GBF1_TRPC6 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | TRPC6 | C1858915 | FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2 | 3 | CTD_human;UNIPROT |
| Tgene | TRPC6 | C0004936 | Mental disorders | 1 | CTD_human |
| Tgene | TRPC6 | C0020564 | Hypertrophy | 1 | CTD_human |
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