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Fusion gene ID: 34901 |
FusionGeneSummary for SMG5_MEF2D |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SMG5_MEF2D | Fusion gene ID: 34901 | Hgene | Tgene | Gene symbol | SMG5 | MEF2D | Gene ID | 23381 | 4209 |
| Gene name | SMG5, nonsense mediated mRNA decay factor | myocyte enhancer factor 2D | |
| Synonyms | EST1B|LPTS-RP1|LPTSRP1|SMG-5 | - | |
| Cytomap | 1q22 | 1q22 | |
| Type of gene | protein-coding | protein-coding | |
| Description | protein SMG5EST1 telomerase component homolog BEST1-like protein BEst1p-like protein BLPTS interacting proteinever shorter telomeres 1Bsmg-5 homolog, nonsense mediated mRNA decay factor | myocyte-specific enhancer factor 2DMADS box transcription enhancer factor 2, polypeptide D | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q9UPR3 | Q14814 | |
| Ensembl transtripts involved in fusion gene | ENST00000361813, ENST00000368267, ENST00000489907, | ENST00000464356, ENST00000348159, ENST00000353795, ENST00000340875, ENST00000368240, ENST00000360595, | |
| Fusion gene scores | * DoF score | 5 X 4 X 4=80 | 8 X 6 X 6=288 |
| # samples | 5 | 8 | |
| ** MAII score | log2(5/80*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(8/288*10)=-1.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: SMG5 [Title/Abstract] AND MEF2D [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 | MEF2D | GO:0045944 | positive regulation of transcription by RNA polymerase II | 20590529 |
| 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 | UCS | TCGA-N5-A4RD-01A | SMG5 | chr1 | 156228796 | - | MEF2D | chr1 | 156438812 | - |
| * 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 | ENST00000361813 | ENST00000464356 | SMG5 | chr1 | 156228796 | - | MEF2D | chr1 | 156438812 | - |
| Frame-shift | ENST00000361813 | ENST00000348159 | SMG5 | chr1 | 156228796 | - | MEF2D | chr1 | 156438812 | - |
| Frame-shift | ENST00000361813 | ENST00000353795 | SMG5 | chr1 | 156228796 | - | MEF2D | chr1 | 156438812 | - |
| Frame-shift | ENST00000361813 | ENST00000340875 | SMG5 | chr1 | 156228796 | - | MEF2D | chr1 | 156438812 | - |
| Frame-shift | ENST00000361813 | ENST00000368240 | SMG5 | chr1 | 156228796 | - | MEF2D | chr1 | 156438812 | - |
| Frame-shift | ENST00000361813 | ENST00000360595 | SMG5 | chr1 | 156228796 | - | MEF2D | chr1 | 156438812 | - |
| intron-3CDS | ENST00000368267 | ENST00000464356 | SMG5 | chr1 | 156228796 | - | MEF2D | chr1 | 156438812 | - |
| intron-3CDS | ENST00000368267 | ENST00000348159 | SMG5 | chr1 | 156228796 | - | MEF2D | chr1 | 156438812 | - |
| intron-3CDS | ENST00000368267 | ENST00000353795 | SMG5 | chr1 | 156228796 | - | MEF2D | chr1 | 156438812 | - |
| intron-3CDS | ENST00000368267 | ENST00000340875 | SMG5 | chr1 | 156228796 | - | MEF2D | chr1 | 156438812 | - |
| intron-3CDS | ENST00000368267 | ENST00000368240 | SMG5 | chr1 | 156228796 | - | MEF2D | chr1 | 156438812 | - |
| intron-3CDS | ENST00000368267 | ENST00000360595 | SMG5 | chr1 | 156228796 | - | MEF2D | chr1 | 156438812 | - |
| intron-3CDS | ENST00000489907 | ENST00000464356 | SMG5 | chr1 | 156228796 | - | MEF2D | chr1 | 156438812 | - |
| intron-3CDS | ENST00000489907 | ENST00000348159 | SMG5 | chr1 | 156228796 | - | MEF2D | chr1 | 156438812 | - |
| intron-3CDS | ENST00000489907 | ENST00000353795 | SMG5 | chr1 | 156228796 | - | MEF2D | chr1 | 156438812 | - |
| intron-3CDS | ENST00000489907 | ENST00000340875 | SMG5 | chr1 | 156228796 | - | MEF2D | chr1 | 156438812 | - |
| intron-3CDS | ENST00000489907 | ENST00000368240 | SMG5 | chr1 | 156228796 | - | MEF2D | chr1 | 156438812 | - |
| intron-3CDS | ENST00000489907 | ENST00000360595 | SMG5 | chr1 | 156228796 | - | MEF2D | chr1 | 156438812 | - |
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FusionProtFeatures for SMG5_MEF2D |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SMG5 | MEF2D |