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Fusion gene ID: 15583 |
FusionGeneSummary for GSTM2_EVC2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: GSTM2_EVC2 | Fusion gene ID: 15583 | Hgene | Tgene | Gene symbol | GSTM2 | EVC2 | Gene ID | 2946 | 132884 |
| Gene name | glutathione S-transferase mu 2 | EvC ciliary complex subunit 2 | |
| Synonyms | GST4|GSTM|GSTM2-2|GTHMUS | LBN|WAD | |
| Cytomap | 1p13.3 | 4p16.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | glutathione S-transferase Mu 2GST class-mu 2GST, muscleS-(hydroxyalkyl)glutathione lyase M2glutathione S-alkyltransferase M2glutathione S-aralkyltransferase M2glutathione S-aryltransferase M2glutathione S-transferase 4glutathione S-transferase M1 | limbinEllis van Creveld syndrome 2ellis-van Creveld syndrome protein 2 | |
| Modification date | 20180519 | 20180519 | |
| UniProtAcc | P28161 | Q86UK5 | |
| Ensembl transtripts involved in fusion gene | ENST00000369831, ENST00000460717, ENST00000369827, ENST00000442650, ENST00000464206, ENST00000241337, ENST00000414179, ENST00000369829, | ENST00000344938, ENST00000344408, ENST00000310917, | |
| Fusion gene scores | * DoF score | 2 X 2 X 1=4 | 2 X 2 X 2=8 |
| # samples | 3 | 2 | |
| ** MAII score | log2(3/4*10)=2.90689059560852 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: GSTM2 [Title/Abstract] AND EVC2 [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 | GSTM2 | GO:0006749 | glutathione metabolic process | 2034681|8373352|16549767 |
| Hgene | GSTM2 | GO:0010880 | regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum | 17023043 |
| Hgene | GSTM2 | GO:0018916 | nitrobenzene metabolic process | 2034681|8373352 |
| Hgene | GSTM2 | GO:0042178 | xenobiotic catabolic process | 2034681|8373352|16549767 |
| Hgene | GSTM2 | GO:0043651 | linoleic acid metabolic process | 16624487 |
| Hgene | GSTM2 | GO:0060315 | negative regulation of ryanodine-sensitive calcium-release channel activity | 17023043|22406107 |
| Hgene | GSTM2 | GO:0060316 | positive regulation of ryanodine-sensitive calcium-release channel activity | 17023043 |
| Hgene | GSTM2 | GO:0070458 | cellular detoxification of nitrogen compound | 2034681|8373352 |
| Hgene | GSTM2 | GO:0071313 | cellular response to caffeine | 22406107 |
| 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 |
| ChiTaRS3.1 | AW386100 | GSTM2 | chr1 | 110256544 | + | EVC2 | chr4 | 5671338 | + |
| * 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 | ENST00000369831 | ENST00000344938 | GSTM2 | chr1 | 110256544 | + | EVC2 | chr4 | 5671338 | + |
| intron-intron | ENST00000369831 | ENST00000344408 | GSTM2 | chr1 | 110256544 | + | EVC2 | chr4 | 5671338 | + |
| intron-intron | ENST00000369831 | ENST00000310917 | GSTM2 | chr1 | 110256544 | + | EVC2 | chr4 | 5671338 | + |
| intron-intron | ENST00000460717 | ENST00000344938 | GSTM2 | chr1 | 110256544 | + | EVC2 | chr4 | 5671338 | + |
| intron-intron | ENST00000460717 | ENST00000344408 | GSTM2 | chr1 | 110256544 | + | EVC2 | chr4 | 5671338 | + |
| intron-intron | ENST00000460717 | ENST00000310917 | GSTM2 | chr1 | 110256544 | + | EVC2 | chr4 | 5671338 | + |
| intron-intron | ENST00000369827 | ENST00000344938 | GSTM2 | chr1 | 110256544 | + | EVC2 | chr4 | 5671338 | + |
| intron-intron | ENST00000369827 | ENST00000344408 | GSTM2 | chr1 | 110256544 | + | EVC2 | chr4 | 5671338 | + |
| intron-intron | ENST00000369827 | ENST00000310917 | GSTM2 | chr1 | 110256544 | + | EVC2 | chr4 | 5671338 | + |
| intron-intron | ENST00000442650 | ENST00000344938 | GSTM2 | chr1 | 110256544 | + | EVC2 | chr4 | 5671338 | + |
| intron-intron | ENST00000442650 | ENST00000344408 | GSTM2 | chr1 | 110256544 | + | EVC2 | chr4 | 5671338 | + |
| intron-intron | ENST00000442650 | ENST00000310917 | GSTM2 | chr1 | 110256544 | + | EVC2 | chr4 | 5671338 | + |
| intron-intron | ENST00000464206 | ENST00000344938 | GSTM2 | chr1 | 110256544 | + | EVC2 | chr4 | 5671338 | + |
| intron-intron | ENST00000464206 | ENST00000344408 | GSTM2 | chr1 | 110256544 | + | EVC2 | chr4 | 5671338 | + |
| intron-intron | ENST00000464206 | ENST00000310917 | GSTM2 | chr1 | 110256544 | + | EVC2 | chr4 | 5671338 | + |
| intron-intron | ENST00000241337 | ENST00000344938 | GSTM2 | chr1 | 110256544 | + | EVC2 | chr4 | 5671338 | + |
| intron-intron | ENST00000241337 | ENST00000344408 | GSTM2 | chr1 | 110256544 | + | EVC2 | chr4 | 5671338 | + |
| intron-intron | ENST00000241337 | ENST00000310917 | GSTM2 | chr1 | 110256544 | + | EVC2 | chr4 | 5671338 | + |
| intron-intron | ENST00000414179 | ENST00000344938 | GSTM2 | chr1 | 110256544 | + | EVC2 | chr4 | 5671338 | + |
| intron-intron | ENST00000414179 | ENST00000344408 | GSTM2 | chr1 | 110256544 | + | EVC2 | chr4 | 5671338 | + |
| intron-intron | ENST00000414179 | ENST00000310917 | GSTM2 | chr1 | 110256544 | + | EVC2 | chr4 | 5671338 | + |
| intron-intron | ENST00000369829 | ENST00000344938 | GSTM2 | chr1 | 110256544 | + | EVC2 | chr4 | 5671338 | + |
| intron-intron | ENST00000369829 | ENST00000344408 | GSTM2 | chr1 | 110256544 | + | EVC2 | chr4 | 5671338 | + |
| intron-intron | ENST00000369829 | ENST00000310917 | GSTM2 | chr1 | 110256544 | + | EVC2 | chr4 | 5671338 | + |
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FusionProtFeatures for GSTM2_EVC2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| GSTM2 | EVC2 |
| Conjugation of reduced glutathione to a wide number ofexogenous and endogenous hydrophobic electrophiles.{ECO:0000269|PubMed:16549767}. | Component of the EvC complex that positively regulatesciliary Hedgehog (Hh) signaling. Plays a critical role in boneformation and skeletal development. May be involved in earlyembryonic morphogenesis. {ECO:0000250|UniProtKB:Q8K1G2}. |
| 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 GSTM2_EVC2 |
| 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 GSTM2_EVC2 |
| 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 |
| - 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 GSTM2_EVC2 |
| 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 |
| Hgene | GSTM2 | P28161 | DB00143 | Glutathione | Glutathione S-transferase Mu 2 | small molecule | approved|investigational|nutraceutical |
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RelatedDiseases for GSTM2_EVC2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | GSTM2 | C0007131 | Non-Small Cell Lung Carcinoma | 1 | CTD_human |
| Hgene | GSTM2 | C0013080 | Down Syndrome | 1 | CTD_human |
| Hgene | GSTM2 | C0036341 | Schizophrenia | 1 | PSYGENET |
| Hgene | GSTM2 | C0151744 | Myocardial Ischemia | 1 | CTD_human |
| Hgene | GSTM2 | C0524851 | Neurodegenerative Disorders | 1 | CTD_human |
| Hgene | GSTM2 | C2609414 | Acute kidney injury | 1 | CTD_human |
| Hgene | GSTM2 | C4277682 | Chemical and Drug Induced Liver Injury | 1 | CTD_human |
| Tgene | EVC2 | C0013903 | Ellis-Van Creveld Syndrome | 2 | CTD_human;ORPHANET;UNIPROT |
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