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Fusion gene ID: 31056 |
FusionGeneSummary for RFX2_EPOR |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: RFX2_EPOR | Fusion gene ID: 31056 | Hgene | Tgene | Gene symbol | RFX2 | EPOR | Gene ID | 5990 | 2057 |
| Gene name | regulatory factor X2 | erythropoietin receptor | |
| Synonyms | - | EPO-R | |
| Cytomap | 19p13.3 | 19p13.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | DNA-binding protein RFX2HLA class II regulatory factor RFX2regulatory factor X 2regulatory factor X, 2 (influences HLA class II expression)trans-acting regulatory factor 2 | erythropoietin receptor | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | P48378 | P19235 | |
| Ensembl transtripts involved in fusion gene | ENST00000303657, ENST00000359161, ENST00000592546, ENST00000587700, | ENST00000222139, ENST00000592375, | |
| Fusion gene scores | * DoF score | 5 X 5 X 5=125 | 1 X 1 X 1=1 |
| # samples | 6 | 1 | |
| ** MAII score | log2(6/125*10)=-1.05889368905357 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: RFX2 [Title/Abstract] AND EPOR [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 |
| 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 | LUAD | TCGA-50-5946-01A | RFX2 | chr19 | 6110404 | - | EPOR | chr19 | 11489454 | - |
| * 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 |
| 5UTR-3CDS | ENST00000303657 | ENST00000222139 | RFX2 | chr19 | 6110404 | - | EPOR | chr19 | 11489454 | - |
| 5UTR-3CDS | ENST00000303657 | ENST00000592375 | RFX2 | chr19 | 6110404 | - | EPOR | chr19 | 11489454 | - |
| intron-3CDS | ENST00000359161 | ENST00000222139 | RFX2 | chr19 | 6110404 | - | EPOR | chr19 | 11489454 | - |
| intron-3CDS | ENST00000359161 | ENST00000592375 | RFX2 | chr19 | 6110404 | - | EPOR | chr19 | 11489454 | - |
| 5UTR-3CDS | ENST00000592546 | ENST00000222139 | RFX2 | chr19 | 6110404 | - | EPOR | chr19 | 11489454 | - |
| 5UTR-3CDS | ENST00000592546 | ENST00000592375 | RFX2 | chr19 | 6110404 | - | EPOR | chr19 | 11489454 | - |
| intron-3CDS | ENST00000587700 | ENST00000222139 | RFX2 | chr19 | 6110404 | - | EPOR | chr19 | 11489454 | - |
| intron-3CDS | ENST00000587700 | ENST00000592375 | RFX2 | chr19 | 6110404 | - | EPOR | chr19 | 11489454 | - |
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FusionProtFeatures for RFX2_EPOR |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| RFX2 | EPOR |
| Transcription factor that acts as a key regulator ofspermatogenesis. Acts by regulating expression of genes requiredfor the haploid phase during spermiogenesis, such as genesrequired for cilium assembly and function (By similarity).Recognizes and binds the X-box, a regulatory motif with DNAsequence 5'-GTNRCC(0-3N)RGYAAC-3' present on promoters(PubMed:10330134). Probably activates transcription of the testis-specific histone gene HIST1H1T (By similarity).{ECO:0000250|UniProtKB:P48379, ECO:0000269|PubMed:10330134}. | Receptor for erythropoietin. Mediates erythropoietin-induced erythroblast proliferation and differentiation. Upon EPOstimulation, EPOR dimerizes triggering the JAK2/STAT5 signalingcascade. In some cell types, can also activate STAT1 and STAT3.May also activate the LYN tyrosine kinase. Isoform EPOR-T acts as a dominant-negative receptor ofEPOR-mediated signaling. |
| 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 RFX2_EPOR |
| 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 RFX2_EPOR |
| 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 |
| RFX2 | RFX6, MDFI, RFX4, FBXL3, C1orf94, FOXJ1, FOXJ2, FOXN3, FOXN2 | EPOR | GNB2L1, JAK2, SOCS2, VAV1, PIK3R1, SOCS3, ATXN2L, IRS2, LYN, PTPN6, GNAI1, SHC1, GRB2, PTPN11, GRAP, CRKL, EPO, CISH, STAT5A, SYK, BTRC, NOSIP, PLCG1, INPP5D, SH2B2, CBL, SRC, MST1R, VHL, CUL2, EGLN3, TCEB1, TCEB2, FBXW7 |
| - 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 RFX2_EPOR |
| 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 |
| Tgene | EPOR | P19235 | DB00016 | Erythropoietin | Erythropoietin receptor | biotech | approved |
| Tgene | EPOR | P19235 | DB09107 | Methoxy polyethylene glycol-epoetin beta | Erythropoietin receptor | biotech | approved |
| Tgene | EPOR | P19235 | DB00012 | Darbepoetin alfa | Erythropoietin receptor | biotech | approved|investigational |
| Tgene | EPOR | P19235 | DB08894 | Peginesatide | Erythropoietin receptor | biotech | approved|investigational |
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RelatedDiseases for RFX2_EPOR |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | EPOR | C0025202 | melanoma | 1 | CTD_human |
| Tgene | EPOR | C0027626 | Neoplasm Invasiveness | 1 | CTD_human |
| Tgene | EPOR | C0027627 | Neoplasm Metastasis | 1 | CTD_human |
| Tgene | EPOR | C0027746 | Nerve Degeneration | 1 | CTD_human |
| Tgene | EPOR | C0032461 | Polycythemia | 1 | CTD_human;HPO |
| Tgene | EPOR | C0040136 | Thyroid Neoplasm | 1 | CTD_human |
| Tgene | EPOR | C0152264 | Familial erythrocytosis | 1 | CTD_human;ORPHANET;UNIPROT |
| Tgene | EPOR | C1458155 | Mammary Neoplasms | 1 | CTD_human |
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