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Fusion gene ID: 24798 |
FusionGeneSummary for NR2F6_OCEL1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: NR2F6_OCEL1 | Fusion gene ID: 24798 | Hgene | Tgene | Gene symbol | NR2F6 | OCEL1 | Gene ID | 2063 | 79629 |
| Gene name | nuclear receptor subfamily 2 group F member 6 | occludin/ELL domain containing 1 | |
| Synonyms | EAR-2|EAR2|ERBAL2 | FWP009|S863-9 | |
| Cytomap | 19p13.11 | 19p13.11 | |
| Type of gene | protein-coding | protein-coding | |
| Description | nuclear receptor subfamily 2 group F member 6ERBA-related gene-2V-erbA-related protein 2nuclear receptor V-erbA-relatedv-erb-a avian erythroblastic leukemia viral oncogene homolog-like 2 | occludin/ELL domain-containing protein 1 | |
| Modification date | 20180519 | 20180519 | |
| UniProtAcc | P10588 | Q9H607 | |
| Ensembl transtripts involved in fusion gene | ENST00000291442, | ENST00000215061, ENST00000601576, ENST00000601529, ENST00000597836, | |
| Fusion gene scores | * DoF score | 6 X 5 X 6=180 | 1 X 1 X 1=1 |
| # samples | 8 | 1 | |
| ** MAII score | log2(8/180*10)=-1.16992500144231 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: NR2F6 [Title/Abstract] AND OCEL1 [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 | NR2F6 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 10644740 |
| 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 | LUAD | TCGA-05-4402-01A | NR2F6 | chr19 | 17351480 | - | OCEL1 | chr19 | 17339065 | + |
| * 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 | ENST00000291442 | ENST00000215061 | NR2F6 | chr19 | 17351480 | - | OCEL1 | chr19 | 17339065 | + |
| 5CDS-intron | ENST00000291442 | ENST00000601576 | NR2F6 | chr19 | 17351480 | - | OCEL1 | chr19 | 17339065 | + |
| 5CDS-intron | ENST00000291442 | ENST00000601529 | NR2F6 | chr19 | 17351480 | - | OCEL1 | chr19 | 17339065 | + |
| 5CDS-intron | ENST00000291442 | ENST00000597836 | NR2F6 | chr19 | 17351480 | - | OCEL1 | chr19 | 17339065 | + |
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FusionProtFeatures for NR2F6_OCEL1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| NR2F6 | OCEL1 |
| Transcription factor predominantly involved intranscriptional repression. Binds to promoter/enhancer responseelements that contain the imperfect 5'-AGGTCA-3' direct orinverted repeats with various spacings which are also recognizedby other nuclear hormone receptors. Involved in modulation ofhormonal responses. Represses transcriptional activity of thelutropin-choriogonadotropic hormone receptor/LHCGR gene, therenin/REN gene and the oxytocin-neurophysin/OXT gene. Repressesthe triiodothyronine-dependent and -independent transcriptionalactivity of the thyroid hormone receptor gene in a cell type-specific manner. The corepressing function towards thyroid hormonereceptor beta/THRB involves at least in part the inhibition ofTHRB binding to triiodothyronine response elements (TREs) byNR2F6. Inhibits NFATC transcription factor DNA binding andsubsequently its transcriptional activity. Acts as transcriptionalrepressor of IL-17 expression in Th-17 differentiated CD4(+) Tcells and may be involved in induction and/or maintenance ofperipheral immunological tolerance and autoimmunity. Involved indevelopment of forebrain circadian clock; is required early in thedevelopment of the locus coeruleus (LC).{ECO:0000269|PubMed:10644740, ECO:0000269|PubMed:10713182,ECO:0000269|PubMed:11682620, ECO:0000269|PubMed:18701084}. |
| 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 NR2F6_OCEL1 |
| 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 NR2F6_OCEL1 |
| 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 |
| NR2F6 | NR2F2, RXRA, RARG, NCOA1, NR3C1, THRB, ESR1, TFAP4, NAP1L1, CBX1, BCL11A, NSD1, MOV10, MPPED2, MPPED1, FOS, JUN, FOXN1, APLNR, RXRG, C5AR2 | OCEL1 | APP, SRPK2, SRPK1 |
| - 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 NR2F6_OCEL1 |
| 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 |
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RelatedDiseases for NR2F6_OCEL1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | NR2F6 | C0014175 | Endometriosis | 1 | CTD_human |
| Hgene | NR2F6 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
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