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Fusion gene ID: 21591 |
FusionGeneSummary for MEF2A_SV2B |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: MEF2A_SV2B | Fusion gene ID: 21591 | Hgene | Tgene | Gene symbol | MEF2A | SV2B | Gene ID | 4205 | 9899 |
| Gene name | myocyte enhancer factor 2A | synaptic vesicle glycoprotein 2B | |
| Synonyms | ADCAD1|RSRFC4|RSRFC9|mef2 | HsT19680 | |
| Cytomap | 15q26.3 | 15q26.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | myocyte-specific enhancer factor 2AMADS box transcription enhancer factor 2, polypeptide A (myocyte enhancer factor 2A)serum response factor-like protein 1 | synaptic vesicle glycoprotein 2Bsynaptic vesicle protein 2B homolog | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q02078 | Q7L1I2 | |
| Ensembl transtripts involved in fusion gene | ENST00000453228, ENST00000354410, ENST00000558856, ENST00000558812, ENST00000338042, ENST00000557785, ENST00000449277, ENST00000557942, | ENST00000545111, ENST00000394232, ENST00000557291, ENST00000330276, | |
| Fusion gene scores | * DoF score | 5 X 6 X 4=120 | 4 X 4 X 3=48 |
| # samples | 6 | 4 | |
| ** MAII score | log2(6/120*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: MEF2A [Title/Abstract] AND SV2B [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 | MEF2A | GO:0000122 | negative regulation of transcription by RNA polymerase II | 16484498 |
| Hgene | MEF2A | GO:0000165 | MAPK cascade | 9858528 |
| Hgene | MEF2A | GO:0006351 | transcription, DNA-templated | 16043483 |
| Hgene | MEF2A | GO:0010613 | positive regulation of cardiac muscle hypertrophy | 24161931 |
| Hgene | MEF2A | GO:0045944 | positive regulation of transcription by RNA polymerase II | 7760790|9858528|10748098|15466416|20590529|21468593 |
| Hgene | MEF2A | GO:0071277 | cellular response to calcium ion | 16484498 |
| 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 | SARC | TCGA-DX-A1KY-01A | MEF2A | chr15 | 100230633 | + | SV2B | chr15 | 91795049 | + |
| * 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 |
| 5CDS-5UTR | ENST00000453228 | ENST00000545111 | MEF2A | chr15 | 100230633 | + | SV2B | chr15 | 91795049 | + |
| 5CDS-5UTR | ENST00000453228 | ENST00000394232 | MEF2A | chr15 | 100230633 | + | SV2B | chr15 | 91795049 | + |
| 5CDS-3UTR | ENST00000453228 | ENST00000557291 | MEF2A | chr15 | 100230633 | + | SV2B | chr15 | 91795049 | + |
| 5CDS-3UTR | ENST00000453228 | ENST00000330276 | MEF2A | chr15 | 100230633 | + | SV2B | chr15 | 91795049 | + |
| 5CDS-5UTR | ENST00000354410 | ENST00000545111 | MEF2A | chr15 | 100230633 | + | SV2B | chr15 | 91795049 | + |
| 5CDS-5UTR | ENST00000354410 | ENST00000394232 | MEF2A | chr15 | 100230633 | + | SV2B | chr15 | 91795049 | + |
| 5CDS-3UTR | ENST00000354410 | ENST00000557291 | MEF2A | chr15 | 100230633 | + | SV2B | chr15 | 91795049 | + |
| 5CDS-3UTR | ENST00000354410 | ENST00000330276 | MEF2A | chr15 | 100230633 | + | SV2B | chr15 | 91795049 | + |
| intron-5UTR | ENST00000558856 | ENST00000545111 | MEF2A | chr15 | 100230633 | + | SV2B | chr15 | 91795049 | + |
| intron-5UTR | ENST00000558856 | ENST00000394232 | MEF2A | chr15 | 100230633 | + | SV2B | chr15 | 91795049 | + |
| intron-3UTR | ENST00000558856 | ENST00000557291 | MEF2A | chr15 | 100230633 | + | SV2B | chr15 | 91795049 | + |
| intron-3UTR | ENST00000558856 | ENST00000330276 | MEF2A | chr15 | 100230633 | + | SV2B | chr15 | 91795049 | + |
| 5CDS-5UTR | ENST00000558812 | ENST00000545111 | MEF2A | chr15 | 100230633 | + | SV2B | chr15 | 91795049 | + |
| 5CDS-5UTR | ENST00000558812 | ENST00000394232 | MEF2A | chr15 | 100230633 | + | SV2B | chr15 | 91795049 | + |
| 5CDS-3UTR | ENST00000558812 | ENST00000557291 | MEF2A | chr15 | 100230633 | + | SV2B | chr15 | 91795049 | + |
| 5CDS-3UTR | ENST00000558812 | ENST00000330276 | MEF2A | chr15 | 100230633 | + | SV2B | chr15 | 91795049 | + |
| 5CDS-5UTR | ENST00000338042 | ENST00000545111 | MEF2A | chr15 | 100230633 | + | SV2B | chr15 | 91795049 | + |
| 5CDS-5UTR | ENST00000338042 | ENST00000394232 | MEF2A | chr15 | 100230633 | + | SV2B | chr15 | 91795049 | + |
| 5CDS-3UTR | ENST00000338042 | ENST00000557291 | MEF2A | chr15 | 100230633 | + | SV2B | chr15 | 91795049 | + |
| 5CDS-3UTR | ENST00000338042 | ENST00000330276 | MEF2A | chr15 | 100230633 | + | SV2B | chr15 | 91795049 | + |
| 5CDS-5UTR | ENST00000557785 | ENST00000545111 | MEF2A | chr15 | 100230633 | + | SV2B | chr15 | 91795049 | + |
| 5CDS-5UTR | ENST00000557785 | ENST00000394232 | MEF2A | chr15 | 100230633 | + | SV2B | chr15 | 91795049 | + |
| 5CDS-3UTR | ENST00000557785 | ENST00000557291 | MEF2A | chr15 | 100230633 | + | SV2B | chr15 | 91795049 | + |
| 5CDS-3UTR | ENST00000557785 | ENST00000330276 | MEF2A | chr15 | 100230633 | + | SV2B | chr15 | 91795049 | + |
| 5CDS-5UTR | ENST00000449277 | ENST00000545111 | MEF2A | chr15 | 100230633 | + | SV2B | chr15 | 91795049 | + |
| 5CDS-5UTR | ENST00000449277 | ENST00000394232 | MEF2A | chr15 | 100230633 | + | SV2B | chr15 | 91795049 | + |
| 5CDS-3UTR | ENST00000449277 | ENST00000557291 | MEF2A | chr15 | 100230633 | + | SV2B | chr15 | 91795049 | + |
| 5CDS-3UTR | ENST00000449277 | ENST00000330276 | MEF2A | chr15 | 100230633 | + | SV2B | chr15 | 91795049 | + |
| 5CDS-5UTR | ENST00000557942 | ENST00000545111 | MEF2A | chr15 | 100230633 | + | SV2B | chr15 | 91795049 | + |
| 5CDS-5UTR | ENST00000557942 | ENST00000394232 | MEF2A | chr15 | 100230633 | + | SV2B | chr15 | 91795049 | + |
| 5CDS-3UTR | ENST00000557942 | ENST00000557291 | MEF2A | chr15 | 100230633 | + | SV2B | chr15 | 91795049 | + |
| 5CDS-3UTR | ENST00000557942 | ENST00000330276 | MEF2A | chr15 | 100230633 | + | SV2B | chr15 | 91795049 | + |
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FusionProtFeatures for MEF2A_SV2B |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| MEF2A | SV2B |
| Probably plays a role in the control of regulatedsecretion in neural and endocrine cells. {ECO:0000250}. |
| 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 MEF2A_SV2B |
| 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 MEF2A_SV2B |
| 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 |
| MEF2A | VGLL4, HDAC4, HDAC9, THRA, EP300, HDAC5, SMAD2, MAPK14, ASCL1, MYOG, MAPK7, MEF2D, ACTN4, HDAC7, HDAC1, HNRNPA1, UBE2I, PHB2, ERBB2IP, DDB1, NDUFB9, GNB2, GNG12, TBP, TAF8, HDAC3, HAND1, XPO1, KLC4, JUN, ATF3, ATF7, CABIN1, HIST1H2BA, MEF2C, HIRA, REV3L, SH2B1, HIST1H2BC, HIST3H3, JUND, CCDC15, MAPKAPK3, SETX, TTLL7, ZCWPW1, ITGB1, MEF2B, XYLT1, DNMT3L, TSR3 | SV2B | SYT1, C6orf15, HSFY1, YAP1 |
| - 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 MEF2A_SV2B |
| 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 MEF2A_SV2B |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | MEF2A | C0033975 | Psychotic Disorders | 1 | PSYGENET |
| Hgene | MEF2A | C0349204 | Nonorganic psychosis | 1 | PSYGENET |
| Tgene | SV2B | C0022658 | Kidney Diseases | 1 | CTD_human |
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