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 | Fusion Gene Summary |
| Fusion Gene ORF analysis |
| Fusion Genomic Features |
| Fusion Protein Features |
| Fusion Gene Sequence |
| Fusion Gene PPI analysis |
| Related Drugs |
| Related Diseases |
Fusion gene:NR1D1-DMKN (FusionGDB2 ID:60070) |
Fusion Gene Summary for NR1D1-DMKN |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: NR1D1-DMKN | Fusion gene ID: 60070 | Hgene | Tgene | Gene symbol | NR1D1 | DMKN | Gene ID | 9572 | 93099 |
| Gene name | nuclear receptor subfamily 1 group D member 1 | dermokine | |
| Synonyms | EAR1|REVERBA|REVERBalpha|THRA1|THRAL|ear-1|hRev | UNQ729|ZD52F10 | |
| Cytomap | 17q21.1 | 19q13.12 | |
| Type of gene | protein-coding | protein-coding | |
| Description | nuclear receptor subfamily 1 group D member 1Rev-ErbAalphaV-erbA-related protein 1nuclear receptor Rev-ErbA-alpharev-erbA-alpha | dermokineepidermis-specific secreted protein SK30/SK89 | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | P20393 | Q6E0U4 | |
| Ensembl transtripts involved in fusion gene | ENST00000246672, | ENST00000443640, ENST00000462126, ENST00000472252, ENST00000492341, ENST00000602781, ENST00000392206, ENST00000418261, ENST00000424570, ENST00000440396, ENST00000447113, ENST00000451297, ENST00000458071, ENST00000461300, ENST00000474928, ENST00000488892, ENST00000339686, ENST00000402589, ENST00000408915, ENST00000414866, ENST00000419602, ENST00000429837, ENST00000436012, ENST00000467637, ENST00000480502, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 7 X 9 X 6=378 |
| # samples | 2 | 9 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(9/378*10)=-2.0703893278914 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: NR1D1 [Title/Abstract] AND DMKN [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | NR1D1(38253317)-DMKN(35990931), # samples:2 | ||
| Anticipated loss of major functional domain due to fusion event. | NR1D1-DMKN seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF. NR1D1-DMKN seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. NR1D1-DMKN seems lost the major protein functional domain in Hgene partner, which is a transcription factor due to the frame-shifted ORF. NR1D1-DMKN seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF. | ||
| * 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 | NR1D1 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 8622974|19955433 |
| Hgene | NR1D1 | GO:0042632 | cholesterol homeostasis | 18511497 |
| Hgene | NR1D1 | GO:0045892 | negative regulation of transcription, DNA-templated | 15761026|20070857|23398316 |
| Fusion gene breakpoints across NR1D1 (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Fusion gene breakpoints across DMKN (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0) * 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. |
| Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChimerDB4 | ESCA | TCGA-2H-A9GN | NR1D1 | chr17 | 38253317 | - | DMKN | chr19 | 35990931 | - |
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Fusion Gene ORF analysis for NR1D1-DMKN |
| 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 | ENST00000246672 | ENST00000443640 | NR1D1 | chr17 | 38253317 | - | DMKN | chr19 | 35990931 | - |
| 5CDS-5UTR | ENST00000246672 | ENST00000462126 | NR1D1 | chr17 | 38253317 | - | DMKN | chr19 | 35990931 | - |
| 5CDS-5UTR | ENST00000246672 | ENST00000472252 | NR1D1 | chr17 | 38253317 | - | DMKN | chr19 | 35990931 | - |
| 5CDS-5UTR | ENST00000246672 | ENST00000492341 | NR1D1 | chr17 | 38253317 | - | DMKN | chr19 | 35990931 | - |
| 5CDS-5UTR | ENST00000246672 | ENST00000602781 | NR1D1 | chr17 | 38253317 | - | DMKN | chr19 | 35990931 | - |
| 5CDS-intron | ENST00000246672 | ENST00000392206 | NR1D1 | chr17 | 38253317 | - | DMKN | chr19 | 35990931 | - |
| 5CDS-intron | ENST00000246672 | ENST00000418261 | NR1D1 | chr17 | 38253317 | - | DMKN | chr19 | 35990931 | - |
| 5CDS-intron | ENST00000246672 | ENST00000424570 | NR1D1 | chr17 | 38253317 | - | DMKN | chr19 | 35990931 | - |
| 5CDS-intron | ENST00000246672 | ENST00000440396 | NR1D1 | chr17 | 38253317 | - | DMKN | chr19 | 35990931 | - |
| 5CDS-intron | ENST00000246672 | ENST00000447113 | NR1D1 | chr17 | 38253317 | - | DMKN | chr19 | 35990931 | - |
| 5CDS-intron | ENST00000246672 | ENST00000451297 | NR1D1 | chr17 | 38253317 | - | DMKN | chr19 | 35990931 | - |
| 5CDS-intron | ENST00000246672 | ENST00000458071 | NR1D1 | chr17 | 38253317 | - | DMKN | chr19 | 35990931 | - |
| 5CDS-intron | ENST00000246672 | ENST00000461300 | NR1D1 | chr17 | 38253317 | - | DMKN | chr19 | 35990931 | - |
| 5CDS-intron | ENST00000246672 | ENST00000474928 | NR1D1 | chr17 | 38253317 | - | DMKN | chr19 | 35990931 | - |
| 5CDS-intron | ENST00000246672 | ENST00000488892 | NR1D1 | chr17 | 38253317 | - | DMKN | chr19 | 35990931 | - |
| Frame-shift | ENST00000246672 | ENST00000339686 | NR1D1 | chr17 | 38253317 | - | DMKN | chr19 | 35990931 | - |
| Frame-shift | ENST00000246672 | ENST00000402589 | NR1D1 | chr17 | 38253317 | - | DMKN | chr19 | 35990931 | - |
| Frame-shift | ENST00000246672 | ENST00000408915 | NR1D1 | chr17 | 38253317 | - | DMKN | chr19 | 35990931 | - |
| Frame-shift | ENST00000246672 | ENST00000414866 | NR1D1 | chr17 | 38253317 | - | DMKN | chr19 | 35990931 | - |
| Frame-shift | ENST00000246672 | ENST00000419602 | NR1D1 | chr17 | 38253317 | - | DMKN | chr19 | 35990931 | - |
| Frame-shift | ENST00000246672 | ENST00000429837 | NR1D1 | chr17 | 38253317 | - | DMKN | chr19 | 35990931 | - |
| Frame-shift | ENST00000246672 | ENST00000436012 | NR1D1 | chr17 | 38253317 | - | DMKN | chr19 | 35990931 | - |
| Frame-shift | ENST00000246672 | ENST00000467637 | NR1D1 | chr17 | 38253317 | - | DMKN | chr19 | 35990931 | - |
| Frame-shift | ENST00000246672 | ENST00000480502 | NR1D1 | chr17 | 38253317 | - | DMKN | chr19 | 35990931 | - |
| ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
| DeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for NR1D1-DMKN |
| FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints. |
| Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page. |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page. |
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Fusion Protein Features for NR1D1-DMKN |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:38253317/:35990931) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| NR1D1 | DMKN |
| FUNCTION: Transcriptional repressor which coordinates circadian rhythm and metabolic pathways in a heme-dependent manner. Integral component of the complex transcription machinery that governs circadian rhythmicity and forms a critical negative limb of the circadian clock by directly repressing the expression of core clock components ARTNL/BMAL1, CLOCK and CRY1. Also regulates genes involved in metabolic functions, including lipid and bile acid metabolism, adipogenesis, gluconeogenesis and the macrophage inflammatory response. Acts as a receptor for heme which stimulates its interaction with the NCOR1/HDAC3 corepressor complex, enhancing transcriptional repression. Recognizes two classes of DNA response elements within the promoter of its target genes and can bind to DNA as either monomers or homodimers, depending on the nature of the response element. Binds as a monomer to a response element composed of the consensus half-site motif 5'-[A/G]GGTCA-3' preceded by an A/T-rich 5' sequence (RevRE), or as a homodimer to a direct repeat of the core motif spaced by two nucleotides (RevDR-2). Acts as a potent competitive repressor of ROR alpha (RORA) function and regulates the levels of its ligand heme by repressing the expression of PPARGC1A, a potent inducer of heme synthesis. Regulates lipid metabolism by repressing the expression of APOC3 and by influencing the activity of sterol response element binding proteins (SREBPs); represses INSIG2 which interferes with the proteolytic activation of SREBPs which in turn govern the rhythmic expression of enzymes with key functions in sterol and fatty acid synthesis. Regulates gluconeogenesis via repression of G6PC1 and PEPCK and adipocyte differentiation via repression of PPARG. Regulates glucagon release in pancreatic alpha-cells via the AMPK-NAMPT-SIRT1 pathway and the proliferation, glucose-induced insulin secretion and expression of key lipogenic genes in pancreatic-beta cells. Positively regulates bile acid synthesis by increasing hepatic expression of CYP7A1 via repression of NR0B2 and NFIL3 which are negative regulators of CYP7A1. Modulates skeletal muscle oxidative capacity by regulating mitochondrial biogenesis and autophagy; controls mitochondrial biogenesis and respiration by interfering with the STK11-PRKAA1/2-SIRT1-PPARGC1A signaling pathway. Represses the expression of SERPINE1/PAI1, an important modulator of cardiovascular disease and the expression of inflammatory cytokines and chemokines in macrophages. Represses gene expression at a distance in macrophages by inhibiting the transcription of enhancer-derived RNAs (eRNAs). Plays a role in the circadian regulation of body temperature and negatively regulates thermogenic transcriptional programs in brown adipose tissue (BAT); imposes a circadian oscillation in BAT activity, increasing body temperature when awake and depressing thermogenesis during sleep. In concert with NR2E3, regulates transcriptional networks critical for photoreceptor development and function. In addition to its activity as a repressor, can also act as a transcriptional activator. In the ovarian granulosa cells acts as a transcriptional activator of STAR which plays a role in steroid biosynthesis. In collaboration with SP1, activates GJA1 transcription in a heme-independent manner. Represses the transcription of CYP2B10, CYP4A10 and CYP4A14 (By similarity). Represses the transcription of CES2 (By similarity). Represses and regulates the circadian expression of TSHB in a NCOR1-dependent manner (By similarity). Negatively regulates the protein stability of NR3C1 and influences the time-dependent subcellular distribution of NR3C1, thereby affecting its transcriptional regulatory activity (By similarity). Plays a critical role in the circadian control of neutrophilic inflammation in the lung; under resting, non-stress conditions, acts as a rhythmic repressor to limit inflammatory activity whereas in the presence of inflammatory triggers undergoes ubiquitin-mediated degradation thereby relieving inhibition of the inflammatory response (By similarity). Plays a key role in the circadian regulation of microglial activation and neuroinflammation; suppresses microglial activation through the NF-kappaB pathway in the central nervous system (By similarity). Plays a role in the regulation of the diurnal rhythms of lipid and protein metabolism in the skeletal muscle via transcriptional repression of genes controlling lipid and amino acid metabolism in the muscle (By similarity). {ECO:0000250|UniProtKB:Q3UV55, ECO:0000269|PubMed:12021280, ECO:0000269|PubMed:15761026, ECO:0000269|PubMed:16968709, ECO:0000269|PubMed:18006707, ECO:0000269|PubMed:19710360, ECO:0000269|PubMed:1971514, ECO:0000269|PubMed:21479263, ECO:0000269|PubMed:22184247, ECO:0000269|PubMed:23398316, ECO:0000269|PubMed:2539258}. | FUNCTION: May act as a soluble regulator of keratinocyte differentiation. {ECO:0000305}. |
| 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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Fusion Gene Sequence for NR1D1-DMKN |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
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Fusion Gene PPI Analysis for NR1D1-DMKN |
| 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 |
| - 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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Related Drugs for NR1D1-DMKN |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.8 2021-05-08) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for NR1D1-DMKN |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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