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Fusion gene ID: 11579 |
FusionGeneSummary for EMP2_TERF2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: EMP2_TERF2 | Fusion gene ID: 11579 | Hgene | Tgene | Gene symbol | EMP2 | TERF2 | Gene ID | 2013 | 7014 |
| Gene name | epithelial membrane protein 2 | telomeric repeat binding factor 2 | |
| Synonyms | XMP | TRBF2|TRF2 | |
| Cytomap | 16p13.13 | 16q22.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | epithelial membrane protein 2 | telomeric repeat-binding factor 2TTAGGG repeat-binding factor 2telomeric DNA-binding proteintelomeric repeat binding protein 2 | |
| Modification date | 20180527 | 20180523 | |
| UniProtAcc | P54851 | Q15554 | |
| Ensembl transtripts involved in fusion gene | ENST00000359543, ENST00000566033, ENST00000536829, | ENST00000254942, ENST00000603068, ENST00000569611, ENST00000567296, | |
| Fusion gene scores | * DoF score | 8 X 7 X 7=392 | 3 X 3 X 3=27 |
| # samples | 9 | 3 | |
| ** MAII score | log2(9/392*10)=-2.12285674778553 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: EMP2 [Title/Abstract] AND TERF2 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Tumor suppressor gene involved fusion gene, in-frame but not retained their domain. Transcription factor involved fusion gene, inframe and retained DNA-binding domain. | ||
| * 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 | EMP2 | GO:0001954 | positive regulation of cell-matrix adhesion | 16216233 |
| Hgene | EMP2 | GO:0003093 | regulation of glomerular filtration | 24814193 |
| Hgene | EMP2 | GO:0007015 | actin filament organization | 19494199 |
| Hgene | EMP2 | GO:0007155 | cell adhesion | 19494199 |
| Hgene | EMP2 | GO:0007160 | cell-matrix adhesion | 19494199 |
| Hgene | EMP2 | GO:0008219 | cell death | 12107182 |
| Hgene | EMP2 | GO:0008283 | cell proliferation | 21637765 |
| Hgene | EMP2 | GO:0010594 | regulation of endothelial cell migration | 23334331 |
| Hgene | EMP2 | GO:0016477 | cell migration | 21637765 |
| Hgene | EMP2 | GO:0032060 | bleb assembly | 12107182 |
| Hgene | EMP2 | GO:0032147 | activation of protein kinase activity | 21637765 |
| Hgene | EMP2 | GO:0043534 | blood vessel endothelial cell migration | 23439602 |
| Hgene | EMP2 | GO:0043549 | regulation of kinase activity | 18469192 |
| Hgene | EMP2 | GO:0045765 | regulation of angiogenesis | 23334331 |
| Hgene | EMP2 | GO:0070252 | actin-mediated cell contraction | 18469192|22728127 |
| Hgene | EMP2 | GO:2001046 | positive regulation of integrin-mediated signaling pathway | 16216233 |
| Hgene | EMP2 | GO:2001212 | regulation of vasculogenesis | 23334331 |
| Tgene | TERF2 | GO:0031627 | telomeric loop formation | 10338214 |
| Tgene | TERF2 | GO:0032205 | negative regulation of telomere maintenance | 17055345 |
| Tgene | TERF2 | GO:0032210 | regulation of telomere maintenance via telomerase | 23685356 |
| Tgene | TERF2 | GO:0032211 | negative regulation of telomere maintenance via telomerase | 17055345 |
| Tgene | TERF2 | GO:1903770 | negative regulation of beta-galactosidase activity | 11927518 |
| Tgene | TERF2 | GO:1905778 | negative regulation of exonuclease activity | 15200954 |
| Tgene | TERF2 | GO:1905839 | negative regulation of telomeric D-loop disassembly | 15200954 |
| 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 | LUSC | TCGA-77-7463-01A | EMP2 | chr16 | 10637427 | - | TERF2 | chr16 | 69419389 | - |
| * 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 |
| In-frame | ENST00000359543 | ENST00000254942 | EMP2 | chr16 | 10637427 | - | TERF2 | chr16 | 69419389 | - |
| In-frame | ENST00000359543 | ENST00000603068 | EMP2 | chr16 | 10637427 | - | TERF2 | chr16 | 69419389 | - |
| 5CDS-5UTR | ENST00000359543 | ENST00000569611 | EMP2 | chr16 | 10637427 | - | TERF2 | chr16 | 69419389 | - |
| 5CDS-5UTR | ENST00000359543 | ENST00000567296 | EMP2 | chr16 | 10637427 | - | TERF2 | chr16 | 69419389 | - |
| intron-3CDS | ENST00000566033 | ENST00000254942 | EMP2 | chr16 | 10637427 | - | TERF2 | chr16 | 69419389 | - |
| intron-3CDS | ENST00000566033 | ENST00000603068 | EMP2 | chr16 | 10637427 | - | TERF2 | chr16 | 69419389 | - |
| intron-5UTR | ENST00000566033 | ENST00000569611 | EMP2 | chr16 | 10637427 | - | TERF2 | chr16 | 69419389 | - |
| intron-5UTR | ENST00000566033 | ENST00000567296 | EMP2 | chr16 | 10637427 | - | TERF2 | chr16 | 69419389 | - |
| In-frame | ENST00000536829 | ENST00000254942 | EMP2 | chr16 | 10637427 | - | TERF2 | chr16 | 69419389 | - |
| In-frame | ENST00000536829 | ENST00000603068 | EMP2 | chr16 | 10637427 | - | TERF2 | chr16 | 69419389 | - |
| 5CDS-5UTR | ENST00000536829 | ENST00000569611 | EMP2 | chr16 | 10637427 | - | TERF2 | chr16 | 69419389 | - |
| 5CDS-5UTR | ENST00000536829 | ENST00000567296 | EMP2 | chr16 | 10637427 | - | TERF2 | chr16 | 69419389 | - |
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FusionProtFeatures for EMP2_TERF2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| EMP2 | TERF2 |