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Fusion gene ID: 12259 |
FusionGeneSummary for EXOC2_GMDS |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: EXOC2_GMDS | Fusion gene ID: 12259 | Hgene | Tgene | Gene symbol | EXOC2 | GMDS | Gene ID | 55770 | 2762 |
| Gene name | exocyst complex component 2 | GDP-mannose 4,6-dehydratase | |
| Synonyms | SEC5|SEC5L1|Sec5p | GMD|SDR3E1 | |
| Cytomap | 6p25.3 | 6p25.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | exocyst complex component 2SEC5-like 1exocyst complex component Sec5 | GDP-mannose 4,6 dehydrataseGDP-D-mannose dehydrataseshort chain dehydrogenase/reductase family 3E, member 1 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q96KP1 | O60547 | |
| Ensembl transtripts involved in fusion gene | ENST00000230449, ENST00000448181, ENST00000475028, | ENST00000530927, ENST00000380815, ENST00000467288, | |
| Fusion gene scores | * DoF score | 7 X 4 X 7=196 | 8 X 5 X 6=240 |
| # samples | 7 | 8 | |
| ** MAII score | log2(7/196*10)=-1.48542682717024 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(8/240*10)=-1.58496250072116 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: EXOC2 [Title/Abstract] AND GMDS [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 | GMDS | GO:0019673 | GDP-mannose metabolic process | 9525924 |
| Tgene | GMDS | GO:0042351 | 'de novo' GDP-L-fucose biosynthetic process | 9525924 |
| 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 | OV | TCGA-13-1501-01A | EXOC2 | chr6 | 572520 | - | GMDS | chr6 | 1742820 | - |
| * 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 | ENST00000230449 | ENST00000530927 | EXOC2 | chr6 | 572520 | - | GMDS | chr6 | 1742820 | - |
| Frame-shift | ENST00000230449 | ENST00000380815 | EXOC2 | chr6 | 572520 | - | GMDS | chr6 | 1742820 | - |
| 5CDS-intron | ENST00000230449 | ENST00000467288 | EXOC2 | chr6 | 572520 | - | GMDS | chr6 | 1742820 | - |
| In-frame | ENST00000448181 | ENST00000530927 | EXOC2 | chr6 | 572520 | - | GMDS | chr6 | 1742820 | - |
| In-frame | ENST00000448181 | ENST00000380815 | EXOC2 | chr6 | 572520 | - | GMDS | chr6 | 1742820 | - |
| 5CDS-intron | ENST00000448181 | ENST00000467288 | EXOC2 | chr6 | 572520 | - | GMDS | chr6 | 1742820 | - |
| intron-3CDS | ENST00000475028 | ENST00000530927 | EXOC2 | chr6 | 572520 | - | GMDS | chr6 | 1742820 | - |
| intron-3CDS | ENST00000475028 | ENST00000380815 | EXOC2 | chr6 | 572520 | - | GMDS | chr6 | 1742820 | - |
| intron-intron | ENST00000475028 | ENST00000467288 | EXOC2 | chr6 | 572520 | - | GMDS | chr6 | 1742820 | - |
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FusionProtFeatures for EXOC2_GMDS |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| EXOC2 | GMDS |
| Component of the exocyst complex involved in the dockingof exocytic vesicles with fusion sites on the plasma membrane. | Catalyzes the conversion of GDP-D-mannose to GDP-4-dehydro-6-deoxy-D-mannose. |
| 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 EXOC2_GMDS |
| 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_EXOC2_ENST00000448181_chr6_572520_-_GMDS_ENST00000530927_chr6_1742820_-_192aa MLDLDNDTRPSVLGHLSQTASLKRGSSFQSGRDDTWRYKTPHRVAFVEKLTKLVLSQLPNFWKLWISYVNGSLFSEAMWLMLQNDEPEDF VIATGEVHSVREFVEKSFLHIGKTIVWEGKNENEVGRCKETGKVHVTVDLKYYRPTEVDFLQGDCTKAKQKLNWKPRVAFDELVREMVHA >In-frame_EXOC2_ENST00000448181_chr6_572520_-_GMDS_ENST00000380815_chr6_1742820_-_192aa MLDLDNDTRPSVLGHLSQTASLKRGSSFQSGRDDTWRYKTPHRVAFVEKLTKLVLSQLPNFWKLWISYVNGSLFSEAMWLMLQNDEPEDF VIATGEVHSVREFVEKSFLHIGKTIVWEGKNENEVGRCKETGKVHVTVDLKYYRPTEVDFLQGDCTKAKQKLNWKPRVAFDELVREMVHA |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_EXOC2_ENST00000448181_chr6_572520_-_GMDS_ENST00000530927_chr6_1742820_-_576nt ATGTTGGATCTTGATAATGATACACGTCCCTCAGTGTTGGGCCATCTCAGTCAGACAGCGTCCCTGAAGAGGGGCAGCAGCTTTCAGTCT GGTCGAGACGACACGTGGAGATACAAAACTCCCCACAGGGTGGCCTTTGTTGAAAAATTGACAAAACTCGTCTTGAGCCAGCTGCCTAAC TTCTGGAAACTCTGGATCTCCTACGTTAATGGAAGCCTCTTCAGTGAGGCTATGTGGTTGATGTTGCAGAATGATGAGCCGGAGGACTTC GTTATAGCTACTGGGGAGGTCCATAGTGTCCGGGAATTTGTCGAGAAATCATTCTTGCACATTGGAAAAACCATTGTGTGGGAAGGAAAG AATGAAAATGAAGTGGGCAGATGTAAAGAGACCGGCAAAGTTCACGTGACTGTGGATCTCAAGTACTACCGGCCAACTGAAGTGGACTTT CTGCAGGGCGACTGCACCAAAGCGAAACAGAAGCTGAACTGGAAGCCCCGGGTCGCTTTCGATGAGCTGGTGAGGGAGATGGTGCACGCC >In-frame_EXOC2_ENST00000448181_chr6_572520_-_GMDS_ENST00000380815_chr6_1742820_-_576nt ATGTTGGATCTTGATAATGATACACGTCCCTCAGTGTTGGGCCATCTCAGTCAGACAGCGTCCCTGAAGAGGGGCAGCAGCTTTCAGTCT GGTCGAGACGACACGTGGAGATACAAAACTCCCCACAGGGTGGCCTTTGTTGAAAAATTGACAAAACTCGTCTTGAGCCAGCTGCCTAAC TTCTGGAAACTCTGGATCTCCTACGTTAATGGAAGCCTCTTCAGTGAGGCTATGTGGTTGATGTTGCAGAATGATGAGCCGGAGGACTTC GTTATAGCTACTGGGGAGGTCCATAGTGTCCGGGAATTTGTCGAGAAATCATTCTTGCACATTGGAAAAACCATTGTGTGGGAAGGAAAG AATGAAAATGAAGTGGGCAGATGTAAAGAGACCGGCAAAGTTCACGTGACTGTGGATCTCAAGTACTACCGGCCAACTGAAGTGGACTTT CTGCAGGGCGACTGCACCAAAGCGAAACAGAAGCTGAACTGGAAGCCCCGGGTCGCTTTCGATGAGCTGGTGAGGGAGATGGTGCACGCC |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_EXOC2_ENST00000448181_chr6_572520_-_GMDS_ENST00000530927_chr6_1742820_-_1061nt GCGGAAGTGAGGTGCCGGCGGCTGGCGGCCGCGGAGTCTTCGGCGAGACCTACCGGGCCCTGTCTGTGCCGGCCGTGAGCTGCGGCAGGA CGGCTGGAGGTAACCCAGGCCTGCACAGTCCCATGTTGGATCTTGATAATGATACACGTCCCTCAGTGTTGGGCCATCTCAGTCAGACAG CGTCCCTGAAGAGGGGCAGCAGCTTTCAGTCTGGTCGAGACGACACGTGGAGATACAAAACTCCCCACAGGGTGGCCTTTGTTGAAAAAT TGACAAAACTCGTCTTGAGCCAGCTGCCTAACTTCTGGAAACTCTGGATCTCCTACGTTAATGGAAGCCTCTTCAGTGAGGCTATGTGGT TGATGTTGCAGAATGATGAGCCGGAGGACTTCGTTATAGCTACTGGGGAGGTCCATAGTGTCCGGGAATTTGTCGAGAAATCATTCTTGC ACATTGGAAAAACCATTGTGTGGGAAGGAAAGAATGAAAATGAAGTGGGCAGATGTAAAGAGACCGGCAAAGTTCACGTGACTGTGGATC TCAAGTACTACCGGCCAACTGAAGTGGACTTTCTGCAGGGCGACTGCACCAAAGCGAAACAGAAGCTGAACTGGAAGCCCCGGGTCGCTT TCGATGAGCTGGTGAGGGAGATGGTGCACGCCGACGTGGAGCTCATGAGGACAAACCCCAATGCCTGAGCAGCGCCTCGGAGCCCGGCCC GCCCTCCGGCTACAATCCCCGCAGAGTCTCCGGTGCAGACGCGCTGCGGGGATGGGGAGCGGCGTGCCAATCTGCGGGTCCCCTGCGGCC CCTGCTGCCGCTGCGCTGTCCCGGCCGCAAGAGCGGGGCCGCCCCGCCGAGGTTTGTAGCAGCCGGGATGTGACCCTCCAGGGTTTGGGT CGCTTTGCGTTTGTCGAAGCCTCCTCTGAATGGCTTTGTGAAATCAAGATGTTTTAATCACATTCACTTTACTTGAAATTATGTTGTTAC >In-frame_EXOC2_ENST00000448181_chr6_572520_-_GMDS_ENST00000380815_chr6_1742820_-_1061nt GCGGAAGTGAGGTGCCGGCGGCTGGCGGCCGCGGAGTCTTCGGCGAGACCTACCGGGCCCTGTCTGTGCCGGCCGTGAGCTGCGGCAGGA CGGCTGGAGGTAACCCAGGCCTGCACAGTCCCATGTTGGATCTTGATAATGATACACGTCCCTCAGTGTTGGGCCATCTCAGTCAGACAG CGTCCCTGAAGAGGGGCAGCAGCTTTCAGTCTGGTCGAGACGACACGTGGAGATACAAAACTCCCCACAGGGTGGCCTTTGTTGAAAAAT TGACAAAACTCGTCTTGAGCCAGCTGCCTAACTTCTGGAAACTCTGGATCTCCTACGTTAATGGAAGCCTCTTCAGTGAGGCTATGTGGT TGATGTTGCAGAATGATGAGCCGGAGGACTTCGTTATAGCTACTGGGGAGGTCCATAGTGTCCGGGAATTTGTCGAGAAATCATTCTTGC ACATTGGAAAAACCATTGTGTGGGAAGGAAAGAATGAAAATGAAGTGGGCAGATGTAAAGAGACCGGCAAAGTTCACGTGACTGTGGATC TCAAGTACTACCGGCCAACTGAAGTGGACTTTCTGCAGGGCGACTGCACCAAAGCGAAACAGAAGCTGAACTGGAAGCCCCGGGTCGCTT TCGATGAGCTGGTGAGGGAGATGGTGCACGCCGACGTGGAGCTCATGAGGACAAACCCCAATGCCTGAGCAGCGCCTCGGAGCCCGGCCC GCCCTCCGGCTACAATCCCCGCAGAGTCTCCGGTGCAGACGCGCTGCGGGGATGGGGAGCGGCGTGCCAATCTGCGGGTCCCCTGCGGCC CCTGCTGCCGCTGCGCTGTCCCGGCCGCAAGAGCGGGGCCGCCCCGCCGAGGTTTGTAGCAGCCGGGATGTGACCCTCCAGGGTTTGGGT CGCTTTGCGTTTGTCGAAGCCTCCTCTGAATGGCTTTGTGAAATCAAGATGTTTTAATCACATTCACTTTACTTGAAATTATGTTGTTAC |
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FusionGenePPI for EXOC2_GMDS |
| 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 |
| EXOC2 | EXOC8, RALB, RALA, SERGEF, VPS53, EXOC4, EXOC3, EXOC7, EXOC5, EXOC6, GET4, ESX1, TBK1, BECN1, USP33, KIAA0226, ATG14, PIK3C3, ULK1, SHMT2, MOV10, NXF1, BSG, LPAR6, PTGER3, SCN2B, SCARA3, HTR6, EXOC1, PGM1, SPTBN2, NTRK1, RANBP9, SNW1, CDC5L, PTAR1, IL1R2, EDNRB, APLNR, CHRM3, EXOC6B, CDKN2A | GMDS | GMDS, TNKS, BLVRB, BAG3, ATIC, CAPN2, CTH, NSFL1C, PTMA, RAP1GDS1, TATDN1, WDYHV1, RNF166, MAT2B, RAB2A, TTC5, NDUFA9, PSMG4, CCDC22, SKA1, NF2, FBXW7, TNKS2, HIF1AN, NPHP3 |
| - 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 EXOC2_GMDS |
| 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 EXOC2_GMDS |
| 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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