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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 |
| Functions as a guanine nucleotide exchange factor (GEF),which activates Rap and Ras family of small GTPases by exchangingbound GDP for free GTP in a cAMP-dependent manner. Serves as alink between cell surface receptors and Rap/Ras GTPases inintracellular signaling cascades. Acts also as an effector forRap1 by direct association with Rap1-GTP thereby leading to theamplification of Rap1-mediated signaling. Shows weak activity onHRAS. It is controversial whether RAPGEF2 binds cAMP and cGMP(PubMed:23800469, PubMed:10801446) or not (PubMed:10608844,PubMed:10548487, PubMed:11359771). Its binding to ligand-activatedbeta-1 adrenergic receptor ADRB1 leads to the Ras activationthrough the G(s)-alpha signaling pathway. Involved in the cAMP-induced Ras and Erk1/2 signaling pathway that leads to sustainedinhibition of long term melanogenesis by reducing dendriteextension and melanin synthesis. Provides also inhibitory signalsfor cell proliferation of melanoma cells and promotes theirapoptosis in a cAMP-independent nanner. Regulates cAMP-inducedneuritogenesis by mediating the Rap1/B-Raf/ERK signaling through apathway that is independent on both PKA and RAPGEF3/RAPGEF4.Involved in neuron migration and in the formation of the majorforebrain fiber connections forming the corpus callosum, theanterior commissure and the hippocampal commissure during braindevelopment. Involved in neuronal growth factor (NGF)-inducedsustained activation of Rap1 at late endosomes and in brain-derived neurotrophic factor (BDNF)-induced axon outgrowth ofhippocampal neurons. Plays a role in the regulation of embryonicblood vessel formation and in the establishment of basal junctionintegrity and endothelial barrier function. May be involved in theregulation of the vascular endothelial growth factor receptor KDRand cadherin CDH5 expression at allantois endothelial cell-celljunctions. {ECO:0000269|PubMed:10548487,ECO:0000269|PubMed:10608844, ECO:0000269|PubMed:10608883,ECO:0000269|PubMed:10801446, ECO:0000269|PubMed:10934204,ECO:0000269|PubMed:11359771, ECO:0000269|PubMed:12391161,ECO:0000269|PubMed:16272156, ECO:0000269|PubMed:17724123,ECO:0000269|PubMed:21840392, ECO:0000269|PubMed:23800469}. |
| 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 RAPGEF2_DDX60L |
| 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 RAPGEF2_DDX60L |
| 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 |
| RAPGEF2 | RALGDS, RAP1A, RAP2B, HSPA1A, KIF5A, KIF5B, ATP8, MOB4, NEDD4, PRKCI, SPP1, YAP1, WWOX, FBXW11, BTRC, UBC, EPB41L5, KIF11, PTPN13, FLNC, LMNA, SCYL2, HIST2H4B, MAGI1, SND1, KCTD17, MAGI3, SSSCA1, STOM, CTTNBP2, KCTD5, HMCN1, PLEC, TJP1, TTN, LAP3, SLC25A11, TNKS, VSIG8, XPO1, XIAP, HTT, PRPSAP1, SEC62, USP11, COX5A, RACGAP1, CCDC132, MESDC2, WDR91, TRMT6, UHRF1BP1, BDP1, ZNF512B, ANO3, ERI3, USMG5, SP140L, LRR1, SREK1IP1, TRIM25 | DDX60L | ABCB9, IFI16, ZSCAN26, RBM3 |
| - 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 RAPGEF2_DDX60L |
| 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 RAPGEF2_DDX60L |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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