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Fusion gene ID: 30447 |
FusionGeneSummary for RAPGEF5_TMEM8C |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: RAPGEF5_TMEM8C | Fusion gene ID: 30447 | Hgene | Tgene | Gene symbol | RAPGEF5 | TMEM8C | Gene ID | 9771 |
| Gene name | Rap guanine nucleotide exchange factor 5 | ||
| Synonyms | GFR|MR-GEF|REPAC | ||
| Cytomap | 7p15.3 | ||
| Type of gene | protein-coding | ||
| Description | rap guanine nucleotide exchange factor 5M-Ras-regulated GEFM-Ras-regulated Rap GEFRap guanine nucleotide exchange factor (GEF) 5guanine nucleotide exchange factor for Rap1related to Epac | ||
| Modification date | 20180519 | ||
| UniProtAcc | Q92565 | ||
| Ensembl transtripts involved in fusion gene | ENST00000344041, ENST00000475788, ENST00000405243, ENST00000401957, | ENST00000339996, ENST00000413714, | |
| Fusion gene scores | * DoF score | 11 X 11 X 6=726 | 3 X 2 X 3=18 |
| # samples | 11 | 3 | |
| ** MAII score | log2(11/726*10)=-2.72246602447109 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: RAPGEF5 [Title/Abstract] AND TMEM8C [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 |
| 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 | LUAD | TCGA-44-3918-01A | RAPGEF5 | chr7 | 22396449 | - | TMEM8C | chr9 | 136385410 | - |
| * 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-3CDS | ENST00000344041 | ENST00000339996 | RAPGEF5 | chr7 | 22396449 | - | TMEM8C | chr9 | 136385410 | - |
| 5UTR-5UTR | ENST00000344041 | ENST00000413714 | RAPGEF5 | chr7 | 22396449 | - | TMEM8C | chr9 | 136385410 | - |
| intron-3CDS | ENST00000475788 | ENST00000339996 | RAPGEF5 | chr7 | 22396449 | - | TMEM8C | chr9 | 136385410 | - |
| intron-5UTR | ENST00000475788 | ENST00000413714 | RAPGEF5 | chr7 | 22396449 | - | TMEM8C | chr9 | 136385410 | - |
| In-frame | ENST00000405243 | ENST00000339996 | RAPGEF5 | chr7 | 22396449 | - | TMEM8C | chr9 | 136385410 | - |
| 5CDS-5UTR | ENST00000405243 | ENST00000413714 | RAPGEF5 | chr7 | 22396449 | - | TMEM8C | chr9 | 136385410 | - |
| intron-3CDS | ENST00000401957 | ENST00000339996 | RAPGEF5 | chr7 | 22396449 | - | TMEM8C | chr9 | 136385410 | - |
| intron-5UTR | ENST00000401957 | ENST00000413714 | RAPGEF5 | chr7 | 22396449 | - | TMEM8C | chr9 | 136385410 | - |
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FusionProtFeatures for RAPGEF5_TMEM8C |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| RAPGEF5 | TMEM8C |
| Guanine nucleotide exchange factor (GEF) for RAP1A,RAP2A and MRAS/M-Ras-GTP. Its association with MRAS inhibits Rap1activation. {ECO:0000269|PubMed:10777494,ECO:0000269|PubMed:10934204}. | Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}. |
| 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 RAPGEF5_TMEM8C |
| 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. |
| >In-frame_RAPGEF5_ENST00000405243_chr7_22396449_-_TMEM8C_ENST00000339996_chr9_136385410_-_254aa MRMAVGSVKMQPPCESPALAAAAAVVAADGPLRRSPSAREPEREQPPASLRPRLRDLPALLRSGLTLRRKRSAAGGRLHHACNGPGLSVL CFMRHDILEYFSVYGTALSMWVSLMALADFDEPKRSTFVMFGVLTIAVRIYHDRWGYGVYSGPIGTAILIIAAKWLQKMKEKKGLYPDKS |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_RAPGEF5_ENST00000405243_chr7_22396449_-_TMEM8C_ENST00000339996_chr9_136385410_-_762nt ATGAGGATGGCCGTGGGCTCCGTCAAGATGCAGCCGCCGTGCGAGAGCCCGGCCCTGGCCGCCGCGGCGGCGGTGGTGGCGGCAGACGGC CCCCTGCGCCGCAGCCCCAGCGCCCGGGAGCCCGAGCGCGAGCAGCCGCCGGCGTCGCTGCGGCCGCGGCTGAGGGACCTGCCCGCGCTG CTGCGGAGCGGGCTCACGCTGCGGAGGAAGCGGAGCGCCGCTGGGGGCCGGCTCCACCATGCCTGCAATGGACCCGGCTTGTCTGTGCTG TGCTTCATGCGTCACGACATCCTGGAGTATTTCAGTGTCTACGGGACAGCCCTGAGCATGTGGGTCTCGCTGATGGCACTGGCCGACTTC GACGAACCCAAGAGGTCAACATTTGTGATGTTCGGCGTCCTGACCATTGCTGTGCGGATCTACCATGACCGATGGGGCTACGGGGTGTAC TCGGGCCCCATCGGCACAGCCATCCTCATCATCGCGGCAAAGTGGCTACAGAAGATGAAGGAGAAGAAGGGCCTGTACCCAGACAAGAGC GTCTACACCCAGCAGATAGGCCCCGGCCTCTGCTTCGGGGCGCTGGCCCTGATGCTACGCTTCTTCTTTGAGGACTGGGACTACACTTAT GTCCACAGCTTCTACCACTGTGCCCTGGCTATGTCCTTTGTTCTGCTGCTGCCCAAGGTCAACAAGAAGGCTGGATCCCCGGGGACCCCG |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_RAPGEF5_ENST00000405243_chr7_22396449_-_TMEM8C_ENST00000339996_chr9_136385410_-_896nt TCTCGCTTCCTGGCGAAGGCGCGGACGGCGCGCGGAGGCGAGCGCGGTGGAGAGGAGCCCCCGGCGCCGCAGCGCCGTCAGGGCATGAGG ATGGCCGTGGGCTCCGTCAAGATGCAGCCGCCGTGCGAGAGCCCGGCCCTGGCCGCCGCGGCGGCGGTGGTGGCGGCAGACGGCCCCCTG CGCCGCAGCCCCAGCGCCCGGGAGCCCGAGCGCGAGCAGCCGCCGGCGTCGCTGCGGCCGCGGCTGAGGGACCTGCCCGCGCTGCTGCGG AGCGGGCTCACGCTGCGGAGGAAGCGGAGCGCCGCTGGGGGCCGGCTCCACCATGCCTGCAATGGACCCGGCTTGTCTGTGCTGTGCTTC ATGCGTCACGACATCCTGGAGTATTTCAGTGTCTACGGGACAGCCCTGAGCATGTGGGTCTCGCTGATGGCACTGGCCGACTTCGACGAA CCCAAGAGGTCAACATTTGTGATGTTCGGCGTCCTGACCATTGCTGTGCGGATCTACCATGACCGATGGGGCTACGGGGTGTACTCGGGC CCCATCGGCACAGCCATCCTCATCATCGCGGCAAAGTGGCTACAGAAGATGAAGGAGAAGAAGGGCCTGTACCCAGACAAGAGCGTCTAC ACCCAGCAGATAGGCCCCGGCCTCTGCTTCGGGGCGCTGGCCCTGATGCTACGCTTCTTCTTTGAGGACTGGGACTACACTTATGTCCAC AGCTTCTACCACTGTGCCCTGGCTATGTCCTTTGTTCTGCTGCTGCCCAAGGTCAACAAGAAGGCTGGATCCCCGGGGACCCCGGCCAAG |
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FusionGenePPI for RAPGEF5_TMEM8C |
| 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 |
| RAPGEF5 | RAP2A, RAP1A, MRAS, KCND3, PLAC9, VANGL1, TMEM253, ANK3, ANK1, MAPK8IP2, ANK2, DDHD2, TUBB1, HSP90AA4P, CCDC88A, UBB, HERC1, PPFIBP1, RICTOR, PLEC, ZNHIT2, WNK1, PRKAR1B, PPP2R5D, PRKACB, PIK3CB, FLNC, ATP2B2 | TMEM8C |
| - 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 RAPGEF5_TMEM8C |
| 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 RAPGEF5_TMEM8C |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | RAPGEF5 | C0005586 | Bipolar Disorder | 1 | PSYGENET |
| Hgene | RAPGEF5 | C0033975 | Psychotic Disorders | 1 | PSYGENET |
| Hgene | RAPGEF5 | C0036341 | Schizophrenia | 1 | PSYGENET |
| Hgene | RAPGEF5 | C0041696 | Unipolar Depression | 1 | PSYGENET |
| Hgene | RAPGEF5 | C0236733 | Amphetamine-Related Disorders | 1 | CTD_human |
| Hgene | RAPGEF5 | C0349204 | Nonorganic psychosis | 1 | PSYGENET |
| Hgene | RAPGEF5 | C1269683 | Major Depressive Disorder | 1 | PSYGENET |
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