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Fusion gene ID: 12096 |
FusionGeneSummary for ESR1_POLH |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ESR1_POLH | Fusion gene ID: 12096 | Hgene | Tgene | Gene symbol | ESR1 | POLH | Gene ID | 2099 | 5429 |
| Gene name | estrogen receptor 1 | DNA polymerase eta | |
| Synonyms | ER|ESR|ESRA|ESTRR|Era|NR3A1 | RAD30|RAD30A|XP-V|XPV | |
| Cytomap | 6q25.1-q25.2 | 6p21.1 | |
| 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 | DNA polymerase etaRAD30 homolog Apolymerase (DNA directed), etapolymerase (DNA) etaxeroderma pigmentosum variant type protein | |
| Modification date | 20180527 | 20180523 | |
| UniProtAcc | P03372 | Q9Y253 | |
| Ensembl transtripts involved in fusion gene | ENST00000440973, ENST00000338799, ENST00000456483, ENST00000443427, ENST00000206249, ENST00000406599, ENST00000427531, ENST00000482101, | ENST00000372236, ENST00000535400, ENST00000372226, | |
| Fusion gene scores | * DoF score | 12 X 7 X 4=336 | 5 X 5 X 3=75 |
| # samples | 12 | 5 | |
| ** MAII score | log2(12/336*10)=-1.48542682717024 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/75*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: ESR1 [Title/Abstract] AND POLH [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 | 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 | POLH | GO:0000731 | DNA synthesis involved in DNA repair | 17563354 |
| Tgene | POLH | GO:0010225 | response to UV-C | 17563354 |
| 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 | BRCA | TCGA-BH-A1FD-01A | ESR1 | chr6 | 152332929 | + | POLH | chr6 | 43550053 | + |
| * 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 | ENST00000440973 | ENST00000372236 | ESR1 | chr6 | 152332929 | + | POLH | chr6 | 43550053 | + |
| 5CDS-intron | ENST00000440973 | ENST00000535400 | ESR1 | chr6 | 152332929 | + | POLH | chr6 | 43550053 | + |
| 5CDS-5UTR | ENST00000440973 | ENST00000372226 | ESR1 | chr6 | 152332929 | + | POLH | chr6 | 43550053 | + |
| 5CDS-5UTR | ENST00000338799 | ENST00000372236 | ESR1 | chr6 | 152332929 | + | POLH | chr6 | 43550053 | + |
| 5CDS-intron | ENST00000338799 | ENST00000535400 | ESR1 | chr6 | 152332929 | + | POLH | chr6 | 43550053 | + |
| 5CDS-5UTR | ENST00000338799 | ENST00000372226 | ESR1 | chr6 | 152332929 | + | POLH | chr6 | 43550053 | + |
| 5CDS-5UTR | ENST00000456483 | ENST00000372236 | ESR1 | chr6 | 152332929 | + | POLH | chr6 | 43550053 | + |
| 5CDS-intron | ENST00000456483 | ENST00000535400 | ESR1 | chr6 | 152332929 | + | POLH | chr6 | 43550053 | + |
| 5CDS-5UTR | ENST00000456483 | ENST00000372226 | ESR1 | chr6 | 152332929 | + | POLH | chr6 | 43550053 | + |
| 5CDS-5UTR | ENST00000443427 | ENST00000372236 | ESR1 | chr6 | 152332929 | + | POLH | chr6 | 43550053 | + |
| 5CDS-intron | ENST00000443427 | ENST00000535400 | ESR1 | chr6 | 152332929 | + | POLH | chr6 | 43550053 | + |
| 5CDS-5UTR | ENST00000443427 | ENST00000372226 | ESR1 | chr6 | 152332929 | + | POLH | chr6 | 43550053 | + |
| 5CDS-5UTR | ENST00000206249 | ENST00000372236 | ESR1 | chr6 | 152332929 | + | POLH | chr6 | 43550053 | + |
| 5CDS-intron | ENST00000206249 | ENST00000535400 | ESR1 | chr6 | 152332929 | + | POLH | chr6 | 43550053 | + |
| 5CDS-5UTR | ENST00000206249 | ENST00000372226 | ESR1 | chr6 | 152332929 | + | POLH | chr6 | 43550053 | + |
| intron-5UTR | ENST00000406599 | ENST00000372236 | ESR1 | chr6 | 152332929 | + | POLH | chr6 | 43550053 | + |
| intron-intron | ENST00000406599 | ENST00000535400 | ESR1 | chr6 | 152332929 | + | POLH | chr6 | 43550053 | + |
| intron-5UTR | ENST00000406599 | ENST00000372226 | ESR1 | chr6 | 152332929 | + | POLH | chr6 | 43550053 | + |
| 5CDS-5UTR | ENST00000427531 | ENST00000372236 | ESR1 | chr6 | 152332929 | + | POLH | chr6 | 43550053 | + |
| 5CDS-intron | ENST00000427531 | ENST00000535400 | ESR1 | chr6 | 152332929 | + | POLH | chr6 | 43550053 | + |
| 5CDS-5UTR | ENST00000427531 | ENST00000372226 | ESR1 | chr6 | 152332929 | + | POLH | chr6 | 43550053 | + |
| intron-5UTR | ENST00000482101 | ENST00000372236 | ESR1 | chr6 | 152332929 | + | POLH | chr6 | 43550053 | + |
| intron-intron | ENST00000482101 | ENST00000535400 | ESR1 | chr6 | 152332929 | + | POLH | chr6 | 43550053 | + |
| intron-5UTR | ENST00000482101 | ENST00000372226 | ESR1 | chr6 | 152332929 | + | POLH | chr6 | 43550053 | + |
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FusionProtFeatures for ESR1_POLH |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ESR1 | POLH |