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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:NR3C1-ELOVL5 (FusionGDB2 ID:60158)

Fusion Gene Summary for NR3C1-ELOVL5

check button Fusion gene summary
Fusion gene informationFusion gene name: NR3C1-ELOVL5
Fusion gene ID: 60158
HgeneTgene
Gene symbol

NR3C1

ELOVL5

Gene ID

2908

60481

Gene namenuclear receptor subfamily 3 group C member 1ELOVL fatty acid elongase 5
SynonymsGCCR|GCR|GCRST|GR|GRLHELO1|SCA38|dJ483K16.1
Cytomap

5q31.3

6p12.1

Type of geneprotein-codingprotein-coding
Descriptionglucocorticoid 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(9elongation of very long chain fatty acids protein 53-keto acyl-CoA synthase ELOVL5ELOVL FA elongase 5ELOVL family member 5, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)fatty acid elongase 1homolog of yeast long chain polyun
Modification date2020032720200313
UniProtAcc

P04150

Q9NYP7

Ensembl transtripts involved in fusion geneENST00000231509, ENST00000343796, 
ENST00000394464, ENST00000394466, 
ENST00000415690, ENST00000416954, 
ENST00000424646, ENST00000503201, 
ENST00000504336, ENST00000504572, 
ENST00000304434, ENST00000370913, 
ENST00000370918, ENST00000486973, 
ENST00000541407, ENST00000542638, 
Fusion gene scores* DoF score5 X 10 X 3=15010 X 9 X 3=270
# samples 1010
** MAII scorelog2(10/150*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(10/270*10)=-1.43295940727611
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: NR3C1 [Title/Abstract] AND ELOVL5 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointNR3C1(142742982)-ELOVL5(53189489), # 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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneNR3C1

GO:0000122

negative regulation of transcription by RNA polymerase II

1894621

HgeneNR3C1

GO:0006351

transcription, DNA-templated

17081986

HgeneNR3C1

GO:0006355

regulation of transcription, DNA-templated

19141540

HgeneNR3C1

GO:0045892

negative regulation of transcription, DNA-templated

1894621

HgeneNR3C1

GO:0045944

positive regulation of transcription by RNA polymerase II

15769988|16728402|23823477

HgeneNR3C1

GO:0071383

cellular response to steroid hormone stimulus

15769988|17635946

HgeneNR3C1

GO:0071385

cellular response to glucocorticoid stimulus

9353307

HgeneNR3C1

GO:0071560

cellular response to transforming growth factor beta stimulus

12902338

HgeneNR3C1

GO:1902895

positive regulation of pri-miRNA transcription by RNA polymerase II

27334923

TgeneELOVL5

GO:0034625

fatty acid elongation, monounsaturated fatty acid

20427700

TgeneELOVL5

GO:0034626

fatty acid elongation, polyunsaturated fatty acid

20427700|20937905

TgeneELOVL5

GO:0042761

very long-chain fatty acid biosynthetic process

20427700|20937905


check buttonFusion 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.

check buttonFusion gene breakpoints across ELOVL5 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS5.0N/AEF580823NR3C1chr5

142742982

+ELOVL5chr6

53189489

+


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Fusion Gene ORF analysis for NR3C1-ELOVL5

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
intron-intronENST00000231509ENST00000304434NR3C1chr5

142742982

+ELOVL5chr6

53189489

+
intron-intronENST00000231509ENST00000370913NR3C1chr5

142742982

+ELOVL5chr6

53189489

+
intron-intronENST00000231509ENST00000370918NR3C1chr5

142742982

+ELOVL5chr6

53189489

+
intron-intronENST00000231509ENST00000486973NR3C1chr5

142742982

+ELOVL5chr6

53189489

+
intron-intronENST00000231509ENST00000541407NR3C1chr5

142742982

+ELOVL5chr6

53189489

+
intron-intronENST00000231509ENST00000542638NR3C1chr5

142742982

+ELOVL5chr6

53189489

+
intron-intronENST00000343796ENST00000304434NR3C1chr5

142742982

+ELOVL5chr6

53189489

+
intron-intronENST00000343796ENST00000370913NR3C1chr5

142742982

+ELOVL5chr6

53189489

+
intron-intronENST00000343796ENST00000370918NR3C1chr5

142742982

+ELOVL5chr6

53189489

+
intron-intronENST00000343796ENST00000486973NR3C1chr5

142742982

+ELOVL5chr6

53189489

+
intron-intronENST00000343796ENST00000541407NR3C1chr5

142742982

+ELOVL5chr6

53189489

+
intron-intronENST00000343796ENST00000542638NR3C1chr5

142742982

+ELOVL5chr6

53189489

+
intron-intronENST00000394464ENST00000304434NR3C1chr5

142742982

+ELOVL5chr6

53189489

+
intron-intronENST00000394464ENST00000370913NR3C1chr5

142742982

+ELOVL5chr6

53189489

+
intron-intronENST00000394464ENST00000370918NR3C1chr5

142742982

+ELOVL5chr6

53189489

+
intron-intronENST00000394464ENST00000486973NR3C1chr5

142742982

+ELOVL5chr6

53189489

+
intron-intronENST00000394464ENST00000541407NR3C1chr5

142742982

+ELOVL5chr6

53189489

+
intron-intronENST00000394464ENST00000542638NR3C1chr5

142742982

+ELOVL5chr6

53189489

+
intron-intronENST00000394466ENST00000304434NR3C1chr5

142742982

+ELOVL5chr6

53189489

+
intron-intronENST00000394466ENST00000370913NR3C1chr5

142742982

+ELOVL5chr6

53189489

+
intron-intronENST00000394466ENST00000370918NR3C1chr5

142742982

+ELOVL5chr6

53189489

+
intron-intronENST00000394466ENST00000486973NR3C1chr5

142742982

+ELOVL5chr6

53189489

+
intron-intronENST00000394466ENST00000541407NR3C1chr5

142742982

+ELOVL5chr6

53189489

+
intron-intronENST00000394466ENST00000542638NR3C1chr5

142742982

+ELOVL5chr6

53189489

+
intron-intronENST00000415690ENST00000304434NR3C1chr5

142742982

+ELOVL5chr6

53189489

+
intron-intronENST00000415690ENST00000370913NR3C1chr5

142742982

+ELOVL5chr6

53189489

+
intron-intronENST00000415690ENST00000370918NR3C1chr5

142742982

+ELOVL5chr6

53189489

+
intron-intronENST00000415690ENST00000486973NR3C1chr5

142742982

+ELOVL5chr6

53189489

+
intron-intronENST00000415690ENST00000541407NR3C1chr5

142742982

+ELOVL5chr6

53189489

+
intron-intronENST00000415690ENST00000542638NR3C1chr5

142742982

+ELOVL5chr6

53189489

+
intron-intronENST00000416954ENST00000304434NR3C1chr5

142742982

+ELOVL5chr6

53189489

+
intron-intronENST00000416954ENST00000370913NR3C1chr5

142742982

+ELOVL5chr6

53189489

+
intron-intronENST00000416954ENST00000370918NR3C1chr5

142742982

+ELOVL5chr6

53189489

+
intron-intronENST00000416954ENST00000486973NR3C1chr5

142742982

+ELOVL5chr6

53189489

+
intron-intronENST00000416954ENST00000541407NR3C1chr5

142742982

+ELOVL5chr6

53189489

+
intron-intronENST00000416954ENST00000542638NR3C1chr5

142742982

+ELOVL5chr6

53189489

+
intron-intronENST00000424646ENST00000304434NR3C1chr5

142742982

+ELOVL5chr6

53189489

+
intron-intronENST00000424646ENST00000370913NR3C1chr5

142742982

+ELOVL5chr6

53189489

+
intron-intronENST00000424646ENST00000370918NR3C1chr5

142742982

+ELOVL5chr6

53189489

+
intron-intronENST00000424646ENST00000486973NR3C1chr5

142742982

+ELOVL5chr6

53189489

+
intron-intronENST00000424646ENST00000541407NR3C1chr5

142742982

+ELOVL5chr6

53189489

+
intron-intronENST00000424646ENST00000542638NR3C1chr5

142742982

+ELOVL5chr6

53189489

+
intron-intronENST00000503201ENST00000304434NR3C1chr5

142742982

+ELOVL5chr6

53189489

+
intron-intronENST00000503201ENST00000370913NR3C1chr5

142742982

+ELOVL5chr6

53189489

+
intron-intronENST00000503201ENST00000370918NR3C1chr5

142742982

+ELOVL5chr6

53189489

+
intron-intronENST00000503201ENST00000486973NR3C1chr5

142742982

+ELOVL5chr6

53189489

+
intron-intronENST00000503201ENST00000541407NR3C1chr5

142742982

+ELOVL5chr6

53189489

+
intron-intronENST00000503201ENST00000542638NR3C1chr5

142742982

+ELOVL5chr6

53189489

+
intron-intronENST00000504336ENST00000304434NR3C1chr5

142742982

+ELOVL5chr6

53189489

+
intron-intronENST00000504336ENST00000370913NR3C1chr5

142742982

+ELOVL5chr6

53189489

+
intron-intronENST00000504336ENST00000370918NR3C1chr5

142742982

+ELOVL5chr6

53189489

+
intron-intronENST00000504336ENST00000486973NR3C1chr5

142742982

+ELOVL5chr6

53189489

+
intron-intronENST00000504336ENST00000541407NR3C1chr5

142742982

+ELOVL5chr6

53189489

+
intron-intronENST00000504336ENST00000542638NR3C1chr5

142742982

+ELOVL5chr6

53189489

+
intron-intronENST00000504572ENST00000304434NR3C1chr5

142742982

+ELOVL5chr6

53189489

+
intron-intronENST00000504572ENST00000370913NR3C1chr5

142742982

+ELOVL5chr6

53189489

+
intron-intronENST00000504572ENST00000370918NR3C1chr5

142742982

+ELOVL5chr6

53189489

+
intron-intronENST00000504572ENST00000486973NR3C1chr5

142742982

+ELOVL5chr6

53189489

+
intron-intronENST00000504572ENST00000541407NR3C1chr5

142742982

+ELOVL5chr6

53189489

+
intron-intronENST00000504572ENST00000542638NR3C1chr5

142742982

+ELOVL5chr6

53189489

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF 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.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for NR3C1-ELOVL5


check buttonFusionAI 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.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution 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.

check buttonDistribution 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-ELOVL5


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:142742982/:53189489)
- 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.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
NR3C1

P04150

ELOVL5

Q9NYP7

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: Catalyzes the first and rate-limiting reaction of the four reactions that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids (VLCFAs) per cycle. Condensing enzyme that acts specifically toward polyunsaturated acyl-CoA with the higher activity toward C18:3(n-6) acyl-CoA. May participate in the production of monounsaturated and of polyunsaturated VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators (By similarity) (PubMed:10970790, PubMed:20937905). In conditions where the essential linoleic and alpha linoleic fatty acids are lacking it is also involved in the synthesis of Mead acid from oleic acid (By similarity). {ECO:0000250|UniProtKB:Q8BHI7, ECO:0000255|HAMAP-Rule:MF_03205, ECO:0000269|PubMed:10970790, ECO:0000269|PubMed:20937905}.

check buttonRetention 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

download page


* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for NR3C1-ELOVL5


check button 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-ELOVL5


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for NR3C1-ELOVL5


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for NR3C1-ELOVL5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource