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Fusion gene ID: 12090 |
FusionGeneSummary for ESR1_ASPH |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ESR1_ASPH | Fusion gene ID: 12090 | Hgene | Tgene | Gene symbol | ESR1 | ASPH | Gene ID | 2099 | 444 |
| Gene name | estrogen receptor 1 | aspartate beta-hydroxylase | |
| Synonyms | ER|ESR|ESRA|ESTRR|Era|NR3A1 | AAH|BAH|CASQ2BP1|FDLAB|HAAH|JCTN|junctin | |
| Cytomap | 6q25.1-q25.2 | 8q12.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | estrogen receptorE2 receptor alphaER-alphaestradiol receptorestrogen nuclear receptor alphaestrogen receptor alpha E1-E2-1-2estrogen receptor alpha E1-N2-E2-1-2nuclear receptor subfamily 3 group A member 1oestrogen receptor alpha | aspartyl/asparaginyl beta-hydroxylaseA beta H-J-JASP beta-hydroxylasecardiac junctinhumbugjunctatepeptide-aspartate beta-dioxygenase | |
| Modification date | 20180527 | 20180519 | |
| UniProtAcc | P03372 | Q12797 | |
| Ensembl transtripts involved in fusion gene | ENST00000440973, ENST00000338799, ENST00000456483, ENST00000443427, ENST00000206249, ENST00000406599, ENST00000427531, ENST00000482101, | ENST00000541428, ENST00000379454, ENST00000523897, ENST00000522919, ENST00000356457, ENST00000518068, ENST00000517903, ENST00000445642, ENST00000517847, ENST00000522835, ENST00000517856, ENST00000389204, ENST00000522603, ENST00000379449, ENST00000517661, | |
| Fusion gene scores | * DoF score | 12 X 7 X 4=336 | 12 X 12 X 3=432 |
| # samples | 12 | 16 | |
| ** MAII score | log2(12/336*10)=-1.48542682717024 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(16/432*10)=-1.43295940727611 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: ESR1 [Title/Abstract] AND ASPH [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Oncogene involved fusion gene, in-frame and retained their domain. 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 | ESR1 | GO:0006366 | transcription by RNA polymerase II | 15831516 |
| Hgene | ESR1 | GO:0010629 | negative regulation of gene expression | 21695196 |
| Hgene | ESR1 | GO:0030520 | intracellular estrogen receptor signaling pathway | 9841876 |
| Hgene | ESR1 | GO:0032355 | response to estradiol | 15304487 |
| Hgene | ESR1 | GO:0043124 | negative regulation of I-kappaB kinase/NF-kappaB signaling | 7651415|16043358 |
| Hgene | ESR1 | GO:0043433 | negative regulation of DNA binding transcription factor activity | 10816575 |
| Hgene | ESR1 | GO:0043627 | response to estrogen | 11581164 |
| Hgene | ESR1 | GO:0045893 | positive regulation of transcription, DNA-templated | 9841876|20074560 |
| Hgene | ESR1 | GO:0045899 | positive regulation of RNA polymerase II transcriptional preinitiation complex assembly | 9841876 |
| Hgene | ESR1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 11544182|12047722|15345745|15831516|18563714 |
| Hgene | ESR1 | GO:0051091 | positive regulation of DNA binding transcription factor activity | 9328340|10681512 |
| Hgene | ESR1 | GO:0071392 | cellular response to estradiol stimulus | 15831516 |
| Tgene | ASPH | GO:0045862 | positive regulation of proteolysis | 18387192 |
| Tgene | ASPH | GO:0097202 | activation of cysteine-type endopeptidase activity | 18387192 |
| 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 | BRCA | TCGA-A2-A3KD-01A | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| * 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 | ENST00000440973 | ENST00000541428 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| Frame-shift | ENST00000440973 | ENST00000379454 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| 5CDS-intron | ENST00000440973 | ENST00000523897 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| 5CDS-intron | ENST00000440973 | ENST00000522919 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| 5CDS-intron | ENST00000440973 | ENST00000356457 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| 5CDS-intron | ENST00000440973 | ENST00000518068 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| 5CDS-intron | ENST00000440973 | ENST00000517903 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| 5CDS-intron | ENST00000440973 | ENST00000445642 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| 5CDS-intron | ENST00000440973 | ENST00000517847 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| 5CDS-intron | ENST00000440973 | ENST00000522835 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| 5CDS-intron | ENST00000440973 | ENST00000517856 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| 5CDS-intron | ENST00000440973 | ENST00000389204 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| 5CDS-intron | ENST00000440973 | ENST00000522603 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| 5CDS-intron | ENST00000440973 | ENST00000379449 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| 5CDS-intron | ENST00000440973 | ENST00000517661 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| In-frame | ENST00000338799 | ENST00000541428 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| Frame-shift | ENST00000338799 | ENST00000379454 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| 5CDS-intron | ENST00000338799 | ENST00000523897 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| 5CDS-intron | ENST00000338799 | ENST00000522919 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| 5CDS-intron | ENST00000338799 | ENST00000356457 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| 5CDS-intron | ENST00000338799 | ENST00000518068 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| 5CDS-intron | ENST00000338799 | ENST00000517903 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| 5CDS-intron | ENST00000338799 | ENST00000445642 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| 5CDS-intron | ENST00000338799 | ENST00000517847 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| 5CDS-intron | ENST00000338799 | ENST00000522835 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| 5CDS-intron | ENST00000338799 | ENST00000517856 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| 5CDS-intron | ENST00000338799 | ENST00000389204 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| 5CDS-intron | ENST00000338799 | ENST00000522603 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| 5CDS-intron | ENST00000338799 | ENST00000379449 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| 5CDS-intron | ENST00000338799 | ENST00000517661 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| In-frame | ENST00000456483 | ENST00000541428 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| Frame-shift | ENST00000456483 | ENST00000379454 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| 5CDS-intron | ENST00000456483 | ENST00000523897 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| 5CDS-intron | ENST00000456483 | ENST00000522919 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| 5CDS-intron | ENST00000456483 | ENST00000356457 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| 5CDS-intron | ENST00000456483 | ENST00000518068 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| 5CDS-intron | ENST00000456483 | ENST00000517903 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| 5CDS-intron | ENST00000456483 | ENST00000445642 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| 5CDS-intron | ENST00000456483 | ENST00000517847 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| 5CDS-intron | ENST00000456483 | ENST00000522835 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| 5CDS-intron | ENST00000456483 | ENST00000517856 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| 5CDS-intron | ENST00000456483 | ENST00000389204 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| 5CDS-intron | ENST00000456483 | ENST00000522603 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| 5CDS-intron | ENST00000456483 | ENST00000379449 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| 5CDS-intron | ENST00000456483 | ENST00000517661 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| In-frame | ENST00000443427 | ENST00000541428 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| Frame-shift | ENST00000443427 | ENST00000379454 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| 5CDS-intron | ENST00000443427 | ENST00000523897 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| 5CDS-intron | ENST00000443427 | ENST00000522919 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| 5CDS-intron | ENST00000443427 | ENST00000356457 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| 5CDS-intron | ENST00000443427 | ENST00000518068 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| 5CDS-intron | ENST00000443427 | ENST00000517903 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| 5CDS-intron | ENST00000443427 | ENST00000445642 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| 5CDS-intron | ENST00000443427 | ENST00000517847 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| 5CDS-intron | ENST00000443427 | ENST00000522835 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| 5CDS-intron | ENST00000443427 | ENST00000517856 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| 5CDS-intron | ENST00000443427 | ENST00000389204 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| 5CDS-intron | ENST00000443427 | ENST00000522603 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| 5CDS-intron | ENST00000443427 | ENST00000379449 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| 5CDS-intron | ENST00000443427 | ENST00000517661 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| In-frame | ENST00000206249 | ENST00000541428 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| Frame-shift | ENST00000206249 | ENST00000379454 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| 5CDS-intron | ENST00000206249 | ENST00000523897 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| 5CDS-intron | ENST00000206249 | ENST00000522919 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| 5CDS-intron | ENST00000206249 | ENST00000356457 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| 5CDS-intron | ENST00000206249 | ENST00000518068 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| 5CDS-intron | ENST00000206249 | ENST00000517903 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| 5CDS-intron | ENST00000206249 | ENST00000445642 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| 5CDS-intron | ENST00000206249 | ENST00000517847 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| 5CDS-intron | ENST00000206249 | ENST00000522835 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| 5CDS-intron | ENST00000206249 | ENST00000517856 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| 5CDS-intron | ENST00000206249 | ENST00000389204 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| 5CDS-intron | ENST00000206249 | ENST00000522603 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| 5CDS-intron | ENST00000206249 | ENST00000379449 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| 5CDS-intron | ENST00000206249 | ENST00000517661 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| intron-3CDS | ENST00000406599 | ENST00000541428 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| intron-3CDS | ENST00000406599 | ENST00000379454 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| intron-intron | ENST00000406599 | ENST00000523897 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| intron-intron | ENST00000406599 | ENST00000522919 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| intron-intron | ENST00000406599 | ENST00000356457 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| intron-intron | ENST00000406599 | ENST00000518068 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| intron-intron | ENST00000406599 | ENST00000517903 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| intron-intron | ENST00000406599 | ENST00000445642 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| intron-intron | ENST00000406599 | ENST00000517847 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| intron-intron | ENST00000406599 | ENST00000522835 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| intron-intron | ENST00000406599 | ENST00000517856 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| intron-intron | ENST00000406599 | ENST00000389204 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| intron-intron | ENST00000406599 | ENST00000522603 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| intron-intron | ENST00000406599 | ENST00000379449 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| intron-intron | ENST00000406599 | ENST00000517661 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| In-frame | ENST00000427531 | ENST00000541428 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| Frame-shift | ENST00000427531 | ENST00000379454 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| 5CDS-intron | ENST00000427531 | ENST00000523897 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| 5CDS-intron | ENST00000427531 | ENST00000522919 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| 5CDS-intron | ENST00000427531 | ENST00000356457 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| 5CDS-intron | ENST00000427531 | ENST00000518068 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| 5CDS-intron | ENST00000427531 | ENST00000517903 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| 5CDS-intron | ENST00000427531 | ENST00000445642 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| 5CDS-intron | ENST00000427531 | ENST00000517847 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| 5CDS-intron | ENST00000427531 | ENST00000522835 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| 5CDS-intron | ENST00000427531 | ENST00000517856 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| 5CDS-intron | ENST00000427531 | ENST00000389204 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| 5CDS-intron | ENST00000427531 | ENST00000522603 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| 5CDS-intron | ENST00000427531 | ENST00000379449 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| 5CDS-intron | ENST00000427531 | ENST00000517661 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| intron-3CDS | ENST00000482101 | ENST00000541428 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| intron-3CDS | ENST00000482101 | ENST00000379454 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| intron-intron | ENST00000482101 | ENST00000523897 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| intron-intron | ENST00000482101 | ENST00000522919 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| intron-intron | ENST00000482101 | ENST00000356457 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| intron-intron | ENST00000482101 | ENST00000518068 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| intron-intron | ENST00000482101 | ENST00000517903 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| intron-intron | ENST00000482101 | ENST00000445642 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| intron-intron | ENST00000482101 | ENST00000517847 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| intron-intron | ENST00000482101 | ENST00000522835 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| intron-intron | ENST00000482101 | ENST00000517856 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| intron-intron | ENST00000482101 | ENST00000389204 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| intron-intron | ENST00000482101 | ENST00000522603 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| intron-intron | ENST00000482101 | ENST00000379449 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
| intron-intron | ENST00000482101 | ENST00000517661 | ESR1 | chr6 | 152201906 | + | ASPH | chr8 | 62416068 | - |
Top |
FusionProtFeatures for ESR1_ASPH |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ESR1 | ASPH |