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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:NR2C2-FGD5 (FusionGDB2 ID:60098)

Fusion Gene Summary for NR2C2-FGD5

check button Fusion gene summary
Fusion gene informationFusion gene name: NR2C2-FGD5
Fusion gene ID: 60098
HgeneTgene
Gene symbol

NR2C2

FGD5

Gene ID

7182

152273

Gene namenuclear receptor subfamily 2 group C member 2FYVE, RhoGEF and PH domain containing 5
SynonymsTAK1|TR4ZFYVE23
Cytomap

3p25.1

3p25.1

Type of geneprotein-codingprotein-coding
Descriptionnuclear receptor subfamily 2 group C member 2Nuclear hormone receptor TR4orphan nuclear receptor TAK1orphan nuclear receptor TR4orphan receptor TR4testicular nuclear receptor 4FYVE, RhoGEF and PH domain-containing protein 5zinc finger FYVE domain-containing protein 23
Modification date2020031320200313
UniProtAcc

P49116

Q6ZNL6

Ensembl transtripts involved in fusion geneENST00000323373, ENST00000393102, 
ENST00000425241, ENST00000406272, 
ENST00000478572, 		ENST00000285046, 
ENST00000543601, ENST00000476851, 
Fusion gene scores* DoF score9 X 5 X 6=2704 X 5 X 3=60
# samples 106
** MAII scorelog2(10/270*10)=-1.43295940727611
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/60*10)=0
Context

PubMed: NR2C2 [Title/Abstract] AND FGD5 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointNR2C2(14989413)-FGD5(14905635), # samples:2
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
HgeneNR2C2

GO:0045944

positive regulation of transcription by RNA polymerase II

9556573|10644740


check buttonFusion gene breakpoints across NR2C2 (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 FGD5 (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
ChimerDB4BRCATCGA-AN-A0FJ-01ANR2C2chr3

14989413

-FGD5chr3

14905635

+
ChimerDB4BRCATCGA-AN-A0FJ-01ANR2C2chr3

14989413

+FGD5chr3

14905635

+
ChimerDB4THYMTCGA-5U-AB0D-01ANR2C2chr3

14989413

-FGD5chr3

14974084

+
ChimerDB4THYMTCGA-5U-AB0D-01ANR2C2chr3

15003999

+FGD5chr3

14974084

+


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Fusion Gene ORF analysis for NR2C2-FGD5

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
5UTR-3CDSENST00000323373ENST00000285046NR2C2chr3

14989413

+FGD5chr3

14905635

+
5UTR-3CDSENST00000323373ENST00000285046NR2C2chr3

14989413

-FGD5chr3

14974084

+
5UTR-3CDSENST00000323373ENST00000543601NR2C2chr3

14989413

+FGD5chr3

14905635

+
5UTR-3CDSENST00000323373ENST00000543601NR2C2chr3

14989413

-FGD5chr3

14974084

+
5UTR-3CDSENST00000393102ENST00000285046NR2C2chr3

15003999

+FGD5chr3

14974084

+
5UTR-3CDSENST00000393102ENST00000543601NR2C2chr3

15003999

+FGD5chr3

14974084

+
5UTR-3CDSENST00000425241ENST00000285046NR2C2chr3

14989413

+FGD5chr3

14905635

+
5UTR-3CDSENST00000425241ENST00000285046NR2C2chr3

14989413

-FGD5chr3

14974084

+
5UTR-3CDSENST00000425241ENST00000543601NR2C2chr3

14989413

+FGD5chr3

14905635

+
5UTR-3CDSENST00000425241ENST00000543601NR2C2chr3

14989413

-FGD5chr3

14974084

+
5UTR-3UTRENST00000323373ENST00000476851NR2C2chr3

14989413

-FGD5chr3

14974084

+
5UTR-3UTRENST00000393102ENST00000476851NR2C2chr3

15003999

+FGD5chr3

14974084

+
5UTR-3UTRENST00000425241ENST00000476851NR2C2chr3

14989413

-FGD5chr3

14974084

+
5UTR-intronENST00000323373ENST00000476851NR2C2chr3

14989413

+FGD5chr3

14905635

+
5UTR-intronENST00000425241ENST00000476851NR2C2chr3

14989413

+FGD5chr3

14905635

+
intron-3CDSENST00000323373ENST00000285046NR2C2chr3

15003999

+FGD5chr3

14974084

+
intron-3CDSENST00000323373ENST00000543601NR2C2chr3

15003999

+FGD5chr3

14974084

+
intron-3CDSENST00000393102ENST00000285046NR2C2chr3

14989413

+FGD5chr3

14905635

+
intron-3CDSENST00000393102ENST00000285046NR2C2chr3

14989413

-FGD5chr3

14974084

+
intron-3CDSENST00000393102ENST00000543601NR2C2chr3

14989413

+FGD5chr3

14905635

+
intron-3CDSENST00000393102ENST00000543601NR2C2chr3

14989413

-FGD5chr3

14974084

+
intron-3CDSENST00000406272ENST00000285046NR2C2chr3

14989413

+FGD5chr3

14905635

+
intron-3CDSENST00000406272ENST00000285046NR2C2chr3

14989413

-FGD5chr3

14974084

+
intron-3CDSENST00000406272ENST00000285046NR2C2chr3

15003999

+FGD5chr3

14974084

+
intron-3CDSENST00000406272ENST00000543601NR2C2chr3

14989413

+FGD5chr3

14905635

+
intron-3CDSENST00000406272ENST00000543601NR2C2chr3

14989413

-FGD5chr3

14974084

+
intron-3CDSENST00000406272ENST00000543601NR2C2chr3

15003999

+FGD5chr3

14974084

+
intron-3CDSENST00000425241ENST00000285046NR2C2chr3

15003999

+FGD5chr3

14974084

+
intron-3CDSENST00000425241ENST00000543601NR2C2chr3

15003999

+FGD5chr3

14974084

+
intron-3CDSENST00000478572ENST00000285046NR2C2chr3

14989413

+FGD5chr3

14905635

+
intron-3CDSENST00000478572ENST00000285046NR2C2chr3

14989413

-FGD5chr3

14974084

+
intron-3CDSENST00000478572ENST00000285046NR2C2chr3

15003999

+FGD5chr3

14974084

+
intron-3CDSENST00000478572ENST00000543601NR2C2chr3

14989413

+FGD5chr3

14905635

+
intron-3CDSENST00000478572ENST00000543601NR2C2chr3

14989413

-FGD5chr3

14974084

+
intron-3CDSENST00000478572ENST00000543601NR2C2chr3

15003999

+FGD5chr3

14974084

+
intron-3UTRENST00000323373ENST00000476851NR2C2chr3

15003999

+FGD5chr3

14974084

+
intron-3UTRENST00000393102ENST00000476851NR2C2chr3

14989413

-FGD5chr3

14974084

+
intron-3UTRENST00000406272ENST00000476851NR2C2chr3

14989413

-FGD5chr3

14974084

+
intron-3UTRENST00000406272ENST00000476851NR2C2chr3

15003999

+FGD5chr3

14974084

+
intron-3UTRENST00000425241ENST00000476851NR2C2chr3

15003999

+FGD5chr3

14974084

+
intron-3UTRENST00000478572ENST00000476851NR2C2chr3

14989413

-FGD5chr3

14974084

+
intron-3UTRENST00000478572ENST00000476851NR2C2chr3

15003999

+FGD5chr3

14974084

+
intron-intronENST00000393102ENST00000476851NR2C2chr3

14989413

+FGD5chr3

14905635

+
intron-intronENST00000406272ENST00000476851NR2C2chr3

14989413

+FGD5chr3

14905635

+
intron-intronENST00000478572ENST00000476851NR2C2chr3

14989413

+FGD5chr3

14905635

+

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 NR2C2-FGD5


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)
NR2C2chr314989413+FGD5chr314905634+3.82E-050.99996173
NR2C2chr315003999+FGD5chr314974083+2.18E-050.9999782
NR2C2chr314989413+FGD5chr314905634+3.82E-050.99996173
NR2C2chr315003999+FGD5chr314974083+2.18E-050.9999782

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.
genomic feature of top 1%

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Fusion Protein Features for NR2C2-FGD5


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/:14989413/:14905635)
- 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
NR2C2

P49116

FGD5

Q6ZNL6

FUNCTION: Orphan nuclear receptor that can act as a repressor or activator of transcription. An important repressor of nuclear receptor signaling pathways such as retinoic acid receptor, retinoid X, vitamin D3 receptor, thyroid hormone receptor and estrogen receptor pathways. May regulate gene expression during the late phase of spermatogenesis. Together with NR2C1, forms the core of the DRED (direct repeat erythroid-definitive) complex that represses embryonic and fetal globin transcription including that of GATA1. Binds to hormone response elements (HREs) consisting of two 5'-AGGTCA-3' half site direct repeat consensus sequences. Plays a fundamental role in early embryonic development and embryonic stem cells. Required for normal spermatogenesis and cerebellum development. Appears to be important for neurodevelopmentally regulated behavior (By similarity). Activates transcriptional activity of LHCG. Antagonist of PPARA-mediated transactivation. {ECO:0000250, ECO:0000269|PubMed:10347174, ECO:0000269|PubMed:10644740, ECO:0000269|PubMed:17974920, ECO:0000269|PubMed:7779113, ECO:0000269|PubMed:9556573}.FUNCTION: Activates CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP. Mediates VEGF-induced CDC42 activation. May regulate proangiogenic action of VEGF in vascular endothelial cells, including network formation, directional movement and proliferation. May play a role in regulating the actin cytoskeleton and cell shape. {ECO:0000269|PubMed:22328776}.

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 NR2C2-FGD5


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 NR2C2-FGD5


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 NR2C2-FGD5


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 NR2C2-FGD5


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