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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:NR3C1-CNTN5 (FusionGDB2 ID:60157) |
Fusion Gene Summary for NR3C1-CNTN5 |
Fusion gene summary |
Fusion gene information | Fusion gene name: NR3C1-CNTN5 | Fusion gene ID: 60157 | Hgene | Tgene | Gene symbol | NR3C1 | CNTN5 | Gene ID | 2908 | 53942 |
Gene name | nuclear receptor subfamily 3 group C member 1 | contactin 5 | |
Synonyms | GCCR|GCR|GCRST|GR|GRL | HNB-2s|NB-2 | |
Cytomap | 5q31.3 | 11q22.1 | |
Type of gene | protein-coding | protein-coding | |
Description | glucocorticoid receptorglucocorticoid nuclear receptor variant 1nuclear receptor subfamily 3 group C member 1 variant hGR-B(54)nuclear receptor subfamily 3 group C member 1 variant hGR-B(77)nuclear receptor subfamily 3 group C member 1 variant hGR-B(9 | contactin-5neural adhesion moleculeneural recognition molecule NB-2 | |
Modification date | 20200327 | 20200329 | |
UniProtAcc | P04150 | O94779 | |
Ensembl transtripts involved in fusion gene | ENST00000231509, ENST00000343796, ENST00000394464, ENST00000394466, ENST00000415690, ENST00000416954, ENST00000424646, ENST00000503201, ENST00000504336, ENST00000504572, | ENST00000279463, ENST00000418526, ENST00000524560, ENST00000524871, ENST00000527185, ENST00000528682, | |
Fusion gene scores | * DoF score | 5 X 10 X 3=150 | 18 X 15 X 12=3240 |
# samples | 10 | 19 | |
** MAII score | log2(10/150*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(19/3240*10)=-4.09192248944104 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: NR3C1 [Title/Abstract] AND CNTN5 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | NR3C1(142657869)-CNTN5(99931119), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. |
* 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 | NR3C1 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 1894621 |
Hgene | NR3C1 | GO:0006351 | transcription, DNA-templated | 17081986 |
Hgene | NR3C1 | GO:0006355 | regulation of transcription, DNA-templated | 19141540 |
Hgene | NR3C1 | GO:0045892 | negative regulation of transcription, DNA-templated | 1894621 |
Hgene | NR3C1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 15769988|16728402|23823477 |
Hgene | NR3C1 | GO:0071383 | cellular response to steroid hormone stimulus | 15769988|17635946 |
Hgene | NR3C1 | GO:0071385 | cellular response to glucocorticoid stimulus | 9353307 |
Hgene | NR3C1 | GO:0071560 | cellular response to transforming growth factor beta stimulus | 12902338 |
Hgene | NR3C1 | GO:1902895 | positive regulation of pri-miRNA transcription by RNA polymerase II | 27334923 |
Fusion gene breakpoints across NR3C1 (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 CNTN5 (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 |
ChiTaRS5.0 | N/A | AV688891 | NR3C1 | chr5 | 142657869 | - | CNTN5 | chr11 | 99931119 | - |
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Fusion Gene ORF analysis for NR3C1-CNTN5 |
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 |
intron-intron | ENST00000231509 | ENST00000279463 | NR3C1 | chr5 | 142657869 | - | CNTN5 | chr11 | 99931119 | - |
intron-intron | ENST00000231509 | ENST00000418526 | NR3C1 | chr5 | 142657869 | - | CNTN5 | chr11 | 99931119 | - |
intron-intron | ENST00000231509 | ENST00000524560 | NR3C1 | chr5 | 142657869 | - | CNTN5 | chr11 | 99931119 | - |
intron-intron | ENST00000231509 | ENST00000524871 | NR3C1 | chr5 | 142657869 | - | CNTN5 | chr11 | 99931119 | - |
intron-intron | ENST00000231509 | ENST00000527185 | NR3C1 | chr5 | 142657869 | - | CNTN5 | chr11 | 99931119 | - |
intron-intron | ENST00000231509 | ENST00000528682 | NR3C1 | chr5 | 142657869 | - | CNTN5 | chr11 | 99931119 | - |
intron-intron | ENST00000343796 | ENST00000279463 | NR3C1 | chr5 | 142657869 | - | CNTN5 | chr11 | 99931119 | - |
intron-intron | ENST00000343796 | ENST00000418526 | NR3C1 | chr5 | 142657869 | - | CNTN5 | chr11 | 99931119 | - |
intron-intron | ENST00000343796 | ENST00000524560 | NR3C1 | chr5 | 142657869 | - | CNTN5 | chr11 | 99931119 | - |
intron-intron | ENST00000343796 | ENST00000524871 | NR3C1 | chr5 | 142657869 | - | CNTN5 | chr11 | 99931119 | - |
intron-intron | ENST00000343796 | ENST00000527185 | NR3C1 | chr5 | 142657869 | - | CNTN5 | chr11 | 99931119 | - |
intron-intron | ENST00000343796 | ENST00000528682 | NR3C1 | chr5 | 142657869 | - | CNTN5 | chr11 | 99931119 | - |
intron-intron | ENST00000394464 | ENST00000279463 | NR3C1 | chr5 | 142657869 | - | CNTN5 | chr11 | 99931119 | - |
intron-intron | ENST00000394464 | ENST00000418526 | NR3C1 | chr5 | 142657869 | - | CNTN5 | chr11 | 99931119 | - |
intron-intron | ENST00000394464 | ENST00000524560 | NR3C1 | chr5 | 142657869 | - | CNTN5 | chr11 | 99931119 | - |
intron-intron | ENST00000394464 | ENST00000524871 | NR3C1 | chr5 | 142657869 | - | CNTN5 | chr11 | 99931119 | - |
intron-intron | ENST00000394464 | ENST00000527185 | NR3C1 | chr5 | 142657869 | - | CNTN5 | chr11 | 99931119 | - |
intron-intron | ENST00000394464 | ENST00000528682 | NR3C1 | chr5 | 142657869 | - | CNTN5 | chr11 | 99931119 | - |
intron-intron | ENST00000394466 | ENST00000279463 | NR3C1 | chr5 | 142657869 | - | CNTN5 | chr11 | 99931119 | - |
intron-intron | ENST00000394466 | ENST00000418526 | NR3C1 | chr5 | 142657869 | - | CNTN5 | chr11 | 99931119 | - |
intron-intron | ENST00000394466 | ENST00000524560 | NR3C1 | chr5 | 142657869 | - | CNTN5 | chr11 | 99931119 | - |
intron-intron | ENST00000394466 | ENST00000524871 | NR3C1 | chr5 | 142657869 | - | CNTN5 | chr11 | 99931119 | - |
intron-intron | ENST00000394466 | ENST00000527185 | NR3C1 | chr5 | 142657869 | - | CNTN5 | chr11 | 99931119 | - |
intron-intron | ENST00000394466 | ENST00000528682 | NR3C1 | chr5 | 142657869 | - | CNTN5 | chr11 | 99931119 | - |
intron-intron | ENST00000415690 | ENST00000279463 | NR3C1 | chr5 | 142657869 | - | CNTN5 | chr11 | 99931119 | - |
intron-intron | ENST00000415690 | ENST00000418526 | NR3C1 | chr5 | 142657869 | - | CNTN5 | chr11 | 99931119 | - |
intron-intron | ENST00000415690 | ENST00000524560 | NR3C1 | chr5 | 142657869 | - | CNTN5 | chr11 | 99931119 | - |
intron-intron | ENST00000415690 | ENST00000524871 | NR3C1 | chr5 | 142657869 | - | CNTN5 | chr11 | 99931119 | - |
intron-intron | ENST00000415690 | ENST00000527185 | NR3C1 | chr5 | 142657869 | - | CNTN5 | chr11 | 99931119 | - |
intron-intron | ENST00000415690 | ENST00000528682 | NR3C1 | chr5 | 142657869 | - | CNTN5 | chr11 | 99931119 | - |
intron-intron | ENST00000416954 | ENST00000279463 | NR3C1 | chr5 | 142657869 | - | CNTN5 | chr11 | 99931119 | - |
intron-intron | ENST00000416954 | ENST00000418526 | NR3C1 | chr5 | 142657869 | - | CNTN5 | chr11 | 99931119 | - |
intron-intron | ENST00000416954 | ENST00000524560 | NR3C1 | chr5 | 142657869 | - | CNTN5 | chr11 | 99931119 | - |
intron-intron | ENST00000416954 | ENST00000524871 | NR3C1 | chr5 | 142657869 | - | CNTN5 | chr11 | 99931119 | - |
intron-intron | ENST00000416954 | ENST00000527185 | NR3C1 | chr5 | 142657869 | - | CNTN5 | chr11 | 99931119 | - |
intron-intron | ENST00000416954 | ENST00000528682 | NR3C1 | chr5 | 142657869 | - | CNTN5 | chr11 | 99931119 | - |
intron-intron | ENST00000424646 | ENST00000279463 | NR3C1 | chr5 | 142657869 | - | CNTN5 | chr11 | 99931119 | - |
intron-intron | ENST00000424646 | ENST00000418526 | NR3C1 | chr5 | 142657869 | - | CNTN5 | chr11 | 99931119 | - |
intron-intron | ENST00000424646 | ENST00000524560 | NR3C1 | chr5 | 142657869 | - | CNTN5 | chr11 | 99931119 | - |
intron-intron | ENST00000424646 | ENST00000524871 | NR3C1 | chr5 | 142657869 | - | CNTN5 | chr11 | 99931119 | - |
intron-intron | ENST00000424646 | ENST00000527185 | NR3C1 | chr5 | 142657869 | - | CNTN5 | chr11 | 99931119 | - |
intron-intron | ENST00000424646 | ENST00000528682 | NR3C1 | chr5 | 142657869 | - | CNTN5 | chr11 | 99931119 | - |
intron-intron | ENST00000503201 | ENST00000279463 | NR3C1 | chr5 | 142657869 | - | CNTN5 | chr11 | 99931119 | - |
intron-intron | ENST00000503201 | ENST00000418526 | NR3C1 | chr5 | 142657869 | - | CNTN5 | chr11 | 99931119 | - |
intron-intron | ENST00000503201 | ENST00000524560 | NR3C1 | chr5 | 142657869 | - | CNTN5 | chr11 | 99931119 | - |
intron-intron | ENST00000503201 | ENST00000524871 | NR3C1 | chr5 | 142657869 | - | CNTN5 | chr11 | 99931119 | - |
intron-intron | ENST00000503201 | ENST00000527185 | NR3C1 | chr5 | 142657869 | - | CNTN5 | chr11 | 99931119 | - |
intron-intron | ENST00000503201 | ENST00000528682 | NR3C1 | chr5 | 142657869 | - | CNTN5 | chr11 | 99931119 | - |
intron-intron | ENST00000504336 | ENST00000279463 | NR3C1 | chr5 | 142657869 | - | CNTN5 | chr11 | 99931119 | - |
intron-intron | ENST00000504336 | ENST00000418526 | NR3C1 | chr5 | 142657869 | - | CNTN5 | chr11 | 99931119 | - |
intron-intron | ENST00000504336 | ENST00000524560 | NR3C1 | chr5 | 142657869 | - | CNTN5 | chr11 | 99931119 | - |
intron-intron | ENST00000504336 | ENST00000524871 | NR3C1 | chr5 | 142657869 | - | CNTN5 | chr11 | 99931119 | - |
intron-intron | ENST00000504336 | ENST00000527185 | NR3C1 | chr5 | 142657869 | - | CNTN5 | chr11 | 99931119 | - |
intron-intron | ENST00000504336 | ENST00000528682 | NR3C1 | chr5 | 142657869 | - | CNTN5 | chr11 | 99931119 | - |
intron-intron | ENST00000504572 | ENST00000279463 | NR3C1 | chr5 | 142657869 | - | CNTN5 | chr11 | 99931119 | - |
intron-intron | ENST00000504572 | ENST00000418526 | NR3C1 | chr5 | 142657869 | - | CNTN5 | chr11 | 99931119 | - |
intron-intron | ENST00000504572 | ENST00000524560 | NR3C1 | chr5 | 142657869 | - | CNTN5 | chr11 | 99931119 | - |
intron-intron | ENST00000504572 | ENST00000524871 | NR3C1 | chr5 | 142657869 | - | CNTN5 | chr11 | 99931119 | - |
intron-intron | ENST00000504572 | ENST00000527185 | NR3C1 | chr5 | 142657869 | - | CNTN5 | chr11 | 99931119 | - |
intron-intron | ENST00000504572 | ENST00000528682 | NR3C1 | chr5 | 142657869 | - | CNTN5 | chr11 | 99931119 | - |
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 NR3C1-CNTN5 |
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 NR3C1-CNTN5 |
Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:142657869/:99931119) - 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. |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
NR3C1 | CNTN5 |
FUNCTION: Receptor for glucocorticoids (GC) (PubMed:27120390). Has a dual mode of action: as a transcription factor that binds to glucocorticoid response elements (GRE), both for nuclear and mitochondrial DNA, and as a modulator of other transcription factors. Affects inflammatory responses, cellular proliferation and differentiation in target tissues. Involved in chromatin remodeling (PubMed:9590696). Plays a role in rapid mRNA degradation by binding to the 5' UTR of target mRNAs and interacting with PNRC2 in a ligand-dependent manner which recruits the RNA helicase UPF1 and the mRNA-decapping enzyme DCP1A, leading to RNA decay (PubMed:25775514). Could act as a coactivator for STAT5-dependent transcription upon growth hormone (GH) stimulation and could reveal an essential role of hepatic GR in the control of body growth (By similarity). {ECO:0000250|UniProtKB:P06537, ECO:0000269|PubMed:25775514, ECO:0000269|PubMed:27120390, ECO:0000269|PubMed:9590696}.; FUNCTION: [Isoform Alpha]: Has transcriptional activation and repression activity (PubMed:15866175, PubMed:19248771, PubMed:20484466, PubMed:23820903, PubMed:11435610, PubMed:15769988, PubMed:17635946, PubMed:19141540, PubMed:21664385). Mediates glucocorticoid-induced apoptosis (PubMed:23303127). Promotes accurate chromosome segregation during mitosis (PubMed:25847991). May act as a tumor suppressor (PubMed:25847991). May play a negative role in adipogenesis through the regulation of lipolytic and antilipogenic gene expression (By similarity). {ECO:0000250|UniProtKB:P06537, ECO:0000269|PubMed:11435610, ECO:0000269|PubMed:15769988, ECO:0000269|PubMed:15866175, ECO:0000269|PubMed:17635946, ECO:0000269|PubMed:19141540, ECO:0000269|PubMed:19248771, ECO:0000269|PubMed:20484466, ECO:0000269|PubMed:21664385, ECO:0000269|PubMed:23303127, ECO:0000269|PubMed:23820903, ECO:0000269|PubMed:25847991}.; FUNCTION: [Isoform Beta]: Acts as a dominant negative inhibitor of isoform Alpha (PubMed:7769088, PubMed:8621628, PubMed:20484466). Has intrinsic transcriptional activity independent of isoform Alpha when both isoforms are coexpressed (PubMed:19248771, PubMed:26711253). Loses this transcription modulator function on its own (PubMed:20484466). Has no hormone-binding activity (PubMed:8621628). May play a role in controlling glucose metabolism by maintaining insulin sensitivity (By similarity). Reduces hepatic gluconeogenesis through down-regulation of PEPCK in an isoform Alpha-dependent manner (PubMed:26711253). Directly regulates STAT1 expression in isoform Alpha-independent manner (PubMed:26711253). {ECO:0000250|UniProtKB:P06537, ECO:0000269|PubMed:19248771, ECO:0000269|PubMed:20484466, ECO:0000269|PubMed:26711253, ECO:0000269|PubMed:7769088, ECO:0000269|PubMed:8621628}.; FUNCTION: [Isoform Alpha-2]: Has lower transcriptional activation activity than isoform Alpha. Exerts a dominant negative effect on isoform Alpha trans-repression mechanism (PubMed:20484466).; FUNCTION: [Isoform GR-P]: Increases activity of isoform Alpha. {ECO:0000269|PubMed:11358809}.; FUNCTION: [Isoform Alpha-B]: More effective than isoform Alpha in transcriptional activation, but not repression activity. {ECO:0000269|PubMed:11435610, ECO:0000269|PubMed:15866175}.; FUNCTION: [Isoform 10]: Has transcriptional activation activity. {ECO:0000269|PubMed:20484466}.; FUNCTION: [Isoform Alpha-C1]: Has transcriptional activation activity. {ECO:0000269|PubMed:15866175}.; FUNCTION: [Isoform Alpha-C2]: Has transcriptional activation activity. {ECO:0000269|PubMed:15866175}.; FUNCTION: [Isoform Alpha-C3]: Has highest transcriptional activation activity of all isoforms created by alternative initiation (PubMed:15866175, PubMed:23820903). Has transcriptional repression activity (PubMed:23303127). Mediates glucocorticoid-induced apoptosis (PubMed:23303127, PubMed:23820903). {ECO:0000269|PubMed:15866175, ECO:0000269|PubMed:23303127, ECO:0000269|PubMed:23820903}.; FUNCTION: [Isoform Alpha-D1]: Has transcriptional activation activity. {ECO:0000269|PubMed:15866175}.; FUNCTION: [Isoform Alpha-D2]: Has transcriptional activation activity. {ECO:0000269|PubMed:15866175}.; FUNCTION: [Isoform Alpha-D3]: Has lowest transcriptional activation activity of all isoforms created by alternative initiation (PubMed:15866175, PubMed:23820903). Has transcriptional repression activity (PubMed:23303127). {ECO:0000269|PubMed:15866175, ECO:0000269|PubMed:23303127, ECO:0000269|PubMed:23820903}. | FUNCTION: Contactins mediate cell surface interactions during nervous system development. Has some neurite outgrowth-promoting activity in the cerebral cortical neurons but not in hippocampal neurons. Probably involved in neuronal activity in the auditory system (By similarity). {ECO:0000250}. |
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 NR3C1-CNTN5 |
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 NR3C1-CNTN5 |
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 NR3C1-CNTN5 |
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 NR3C1-CNTN5 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |