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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 24787

FusionGeneSummary for NR2C2_FGD5

check button Fusion gene summary
Fusion gene informationFusion gene name: NR2C2_FGD5
Fusion gene ID: 24787
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 date2018051920180519
UniProtAcc

P49116

Q6ZNL6

Ensembl transtripts involved in fusion geneENST00000425241, ENST00000323373, 
ENST00000393102, ENST00000406272, 
ENST00000478572, 
ENST00000285046, 
ENST00000543601, ENST00000476851, 
Fusion gene scores* DoF score5 X 3 X 4=604 X 4 X 3=48
# samples 65
** MAII scorelog2(6/60*10)=0log2(5/48*10)=0.0588936890535686
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

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

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 button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDBRCATCGA-AN-A0FJ-01ANR2C2chr3

14989413

+FGD5chr3

14905635

+
TCGARVTHYMTCGA-5U-AB0D-01ANR2C2chr3

14989413

+FGD5chr3

14974084

+
TCGALDTHYMTCGA-5U-AB0D-01ANR2C2chr3

15003999

+FGD5chr3

14974084

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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-3CDSENST00000425241ENST00000285046NR2C2chr3

14989413

+FGD5chr3

14905635

+
5UTR-3CDSENST00000425241ENST00000543601NR2C2chr3

14989413

+FGD5chr3

14905635

+
5UTR-intronENST00000425241ENST00000476851NR2C2chr3

14989413

+FGD5chr3

14905635

+
5UTR-3CDSENST00000323373ENST00000285046NR2C2chr3

14989413

+FGD5chr3

14905635

+
5UTR-3CDSENST00000323373ENST00000543601NR2C2chr3

14989413

+FGD5chr3

14905635

+
5UTR-intronENST00000323373ENST00000476851NR2C2chr3

14989413

+FGD5chr3

14905635

+
intron-3CDSENST00000393102ENST00000285046NR2C2chr3

14989413

+FGD5chr3

14905635

+
intron-3CDSENST00000393102ENST00000543601NR2C2chr3

14989413

+FGD5chr3

14905635

+
intron-intronENST00000393102ENST00000476851NR2C2chr3

14989413

+FGD5chr3

14905635

+
intron-3CDSENST00000406272ENST00000285046NR2C2chr3

14989413

+FGD5chr3

14905635

+
intron-3CDSENST00000406272ENST00000543601NR2C2chr3

14989413

+FGD5chr3

14905635

+
intron-intronENST00000406272ENST00000476851NR2C2chr3

14989413

+FGD5chr3

14905635

+
intron-3CDSENST00000478572ENST00000285046NR2C2chr3

14989413

+FGD5chr3

14905635

+
intron-3CDSENST00000478572ENST00000543601NR2C2chr3

14989413

+FGD5chr3

14905635

+
intron-intronENST00000478572ENST00000476851NR2C2chr3

14989413

+FGD5chr3

14905635

+
5UTR-3CDSENST00000425241ENST00000285046NR2C2chr3

14989413

+FGD5chr3

14974084

+
5UTR-3CDSENST00000425241ENST00000543601NR2C2chr3

14989413

+FGD5chr3

14974084

+
5UTR-3UTRENST00000425241ENST00000476851NR2C2chr3

14989413

+FGD5chr3

14974084

+
5UTR-3CDSENST00000323373ENST00000285046NR2C2chr3

14989413

+FGD5chr3

14974084

+
5UTR-3CDSENST00000323373ENST00000543601NR2C2chr3

14989413

+FGD5chr3

14974084

+
5UTR-3UTRENST00000323373ENST00000476851NR2C2chr3

14989413

+FGD5chr3

14974084

+
intron-3CDSENST00000393102ENST00000285046NR2C2chr3

14989413

+FGD5chr3

14974084

+
intron-3CDSENST00000393102ENST00000543601NR2C2chr3

14989413

+FGD5chr3

14974084

+
intron-3UTRENST00000393102ENST00000476851NR2C2chr3

14989413

+FGD5chr3

14974084

+
intron-3CDSENST00000406272ENST00000285046NR2C2chr3

14989413

+FGD5chr3

14974084

+
intron-3CDSENST00000406272ENST00000543601NR2C2chr3

14989413

+FGD5chr3

14974084

+
intron-3UTRENST00000406272ENST00000476851NR2C2chr3

14989413

+FGD5chr3

14974084

+
intron-3CDSENST00000478572ENST00000285046NR2C2chr3

14989413

+FGD5chr3

14974084

+
intron-3CDSENST00000478572ENST00000543601NR2C2chr3

14989413

+FGD5chr3

14974084

+
intron-3UTRENST00000478572ENST00000476851NR2C2chr3

14989413

+FGD5chr3

14974084

+
intron-3CDSENST00000425241ENST00000285046NR2C2chr3

15003999

+FGD5chr3

14974084

+
intron-3CDSENST00000425241ENST00000543601NR2C2chr3

15003999

+FGD5chr3

14974084

+
intron-3UTRENST00000425241ENST00000476851NR2C2chr3

15003999

+FGD5chr3

14974084

+
intron-3CDSENST00000323373ENST00000285046NR2C2chr3

15003999

+FGD5chr3

14974084

+
intron-3CDSENST00000323373ENST00000543601NR2C2chr3

15003999

+FGD5chr3

14974084

+
intron-3UTRENST00000323373ENST00000476851NR2C2chr3

15003999

+FGD5chr3

14974084

+
5UTR-3CDSENST00000393102ENST00000285046NR2C2chr3

15003999

+FGD5chr3

14974084

+
5UTR-3CDSENST00000393102ENST00000543601NR2C2chr3

15003999

+FGD5chr3

14974084

+
5UTR-3UTRENST00000393102ENST00000476851NR2C2chr3

15003999

+FGD5chr3

14974084

+
intron-3CDSENST00000406272ENST00000285046NR2C2chr3

15003999

+FGD5chr3

14974084

+
intron-3CDSENST00000406272ENST00000543601NR2C2chr3

15003999

+FGD5chr3

14974084

+
intron-3UTRENST00000406272ENST00000476851NR2C2chr3

15003999

+FGD5chr3

14974084

+
intron-3CDSENST00000478572ENST00000285046NR2C2chr3

15003999

+FGD5chr3

14974084

+
intron-3CDSENST00000478572ENST00000543601NR2C2chr3

15003999

+FGD5chr3

14974084

+
intron-3UTRENST00000478572ENST00000476851NR2C2chr3

15003999

+FGD5chr3

14974084

+

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FusionProtFeatures for NR2C2_FGD5


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
NR2C2

P49116

FGD5

Q6ZNL6

Orphan nuclear receptor that can act as a repressor oractivator of transcription. An important repressor of nuclearreceptor signaling pathways such as retinoic acid receptor,retinoid X, vitamin D3 receptor, thyroid hormone receptor andestrogen receptor pathways. May regulate gene expression duringthe late phase of spermatogenesis. Together with NR2C1, forms thecore of the DRED (direct repeat erythroid-definitive) complex thatrepresses embryonic and fetal globin transcription including thatof GATA1. Binds to hormone response elements (HREs) consisting oftwo 5'-AGGTCA-3' half site direct repeat consensus sequences.Plays a fundamental role in early embryonic development andembryonic stem cells. Required for normal spermatogenesis andcerebellum development. Appears to be important forneurodevelopmentally regulated behavior (By similarity). Activatestranscriptional activity of LHCG. Antagonist of PPARA-mediatedtransactivation. {ECO:0000250, ECO:0000269|PubMed:10347174,ECO:0000269|PubMed:10644740, ECO:0000269|PubMed:17974920,ECO:0000269|PubMed:7779113, ECO:0000269|PubMed:9556573}. Activates CDC42, a member of the Ras-like family ofRho- and Rac proteins, by exchanging bound GDP for free GTP.Mediates VEGF-induced CDC42 activation. May regulate proangiogenicaction of VEGF in vascular endothelial cells, including networkformation, directional movement and proliferation. May play a rolein 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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FusionGeneSequence for NR2C2_FGD5


check button 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 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
NR2C2AR, HDAC3, HDAC4, ESR1, HNF4A, NR2C2AP, RXRB, CD2AP, ITSN2, NR2C1, DNMT1, TRIM28, MTA1, HDAC1, CHD4, RBBP4, KDM1A, TAB1, RBCK1, PDLIM7, TAB2, PELI1, PELI2, TRAF6, JAZF1, NR2C2, HSP90AA1, DDB1, VPRBP, CUL4B, MLLT4, S100A4, SMARCC1, EED, RPP38, PATZ1, TANC2, RBMX2, PRPF40A, KLHL7, FOXL1, CD70, UBB, TRIM25FGD5SUV39H1, JMJD6


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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RelatedDrugs for NR2C2_FGD5


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for NR2C2_FGD5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneNR2C2C0014175Endometriosis1CTD_human
TgeneFGD5C1458155Mammary Neoplasms1CTD_human