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Fusion gene ID: 30432 |
FusionGeneSummary for RAPGEF2_DDX60L |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: RAPGEF2_DDX60L | Fusion gene ID: 30432 | Hgene | Tgene | Gene symbol | RAPGEF2 | DDX60L | Gene ID | 9693 | 91351 |
| Gene name | Rap guanine nucleotide exchange factor 2 | DExD/H-box 60 like | |
| Synonyms | CNrasGEF|NRAPGEP|PDZ-GEF1|PDZGEF1|RA-GEF|RA-GEF-1|Rap-GEP|nRap GEP | - | |
| Cytomap | 4q32.1 | 4q32.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | rap guanine nucleotide exchange factor 2PDZ domain containing guanine nucleotide exchange factor (GEF) 1PDZ domain-containing guanine nucleotide exchange factor 1RA(Ras/Rap1A-associating)-GEFRap guanine nucleotide exchange factor (GEF) 2cyclic nucleo | probable ATP-dependent RNA helicase DDX60-likeDEAD (Asp-Glu-Ala-Asp) box polypeptide 60-likeDEAD box protein 60-likeDEAD-box helicase 60 likeputative ATP-dependent RNA helicase DDX60 | |
| Modification date | 20180519 | 20180519 | |
| UniProtAcc | Q9Y4G8 | Q5H9U9 | |
| Ensembl transtripts involved in fusion gene | ENST00000504604, ENST00000264431, | ENST00000260184, ENST00000511577, ENST00000505890, ENST00000515088, | |
| Fusion gene scores | * DoF score | 6 X 5 X 5=150 | 3 X 3 X 3=27 |
| # samples | 6 | 3 | |
| ** MAII score | log2(6/150*10)=-1.32192809488736 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: RAPGEF2 [Title/Abstract] AND DDX60L [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 | RAPGEF2 | GO:0007186 | G-protein coupled receptor signaling pathway | 23800469 |
| Hgene | RAPGEF2 | GO:0007218 | neuropeptide signaling pathway | 23800469 |
| Hgene | RAPGEF2 | GO:0008285 | negative regulation of cell proliferation | 16272156 |
| Hgene | RAPGEF2 | GO:0019933 | cAMP-mediated signaling | 23800469 |
| Hgene | RAPGEF2 | GO:0031175 | neuron projection development | 23800469 |
| Hgene | RAPGEF2 | GO:0043547 | positive regulation of GTPase activity | 10548487|10608844|10801446|11359771|16272156|17724123|23800469 |
| Hgene | RAPGEF2 | GO:0043950 | positive regulation of cAMP-mediated signaling | 12391161 |
| Hgene | RAPGEF2 | GO:0045860 | positive regulation of protein kinase activity | 11359771|23800469 |
| Hgene | RAPGEF2 | GO:0050774 | negative regulation of dendrite morphogenesis | 16272156 |
| Hgene | RAPGEF2 | GO:0070374 | positive regulation of ERK1 and ERK2 cascade | 16272156|23800469 |
| Hgene | RAPGEF2 | GO:0071320 | cellular response to cAMP | 10801446|16272156|21840392|23800469 |
| Hgene | RAPGEF2 | GO:0071321 | cellular response to cGMP | 10801446 |
| Hgene | RAPGEF2 | GO:0071880 | adenylate cyclase-activating adrenergic receptor signaling pathway | 12391161 |
| Hgene | RAPGEF2 | GO:2000481 | positive regulation of cAMP-dependent protein kinase activity | 16272156 |
| Hgene | RAPGEF2 | GO:2000670 | positive regulation of dendritic cell apoptotic process | 16272156 |
| 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 | LD | LUAD | TCGA-05-4389-01A | RAPGEF2 | chr4 | 160025383 | + | DDX60L | chr4 | 169458937 | - |
| * 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-intron | ENST00000504604 | ENST00000260184 | RAPGEF2 | chr4 | 160025383 | + | DDX60L | chr4 | 169458937 | - |
| intron-intron | ENST00000504604 | ENST00000511577 | RAPGEF2 | chr4 | 160025383 | + | DDX60L | chr4 | 169458937 | - |
| intron-intron | ENST00000504604 | ENST00000505890 | RAPGEF2 | chr4 | 160025383 | + | DDX60L | chr4 | 169458937 | - |
| intron-intron | ENST00000504604 | ENST00000515088 | RAPGEF2 | chr4 | 160025383 | + | DDX60L | chr4 | 169458937 | - |
| intron-intron | ENST00000264431 | ENST00000260184 | RAPGEF2 | chr4 | 160025383 | + | DDX60L | chr4 | 169458937 | - |
| intron-intron | ENST00000264431 | ENST00000511577 | RAPGEF2 | chr4 | 160025383 | + | DDX60L | chr4 | 169458937 | - |
| intron-intron | ENST00000264431 | ENST00000505890 | RAPGEF2 | chr4 | 160025383 | + | DDX60L | chr4 | 169458937 | - |
| intron-intron | ENST00000264431 | ENST00000515088 | RAPGEF2 | chr4 | 160025383 | + | DDX60L | chr4 | 169458937 | - |
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FusionProtFeatures for RAPGEF2_DDX60L |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| RAPGEF2 | DDX60L |