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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:AR-NR4A3 (FusionGDB2 ID:HG367TG8013)

Fusion Gene Summary for AR-NR4A3

check button Fusion gene summary
Fusion gene informationFusion gene name: AR-NR4A3
Fusion gene ID: hg367tg8013
HgeneTgene
Gene symbol

AR

NR4A3

Gene ID

367

8013

Gene nameandrogen receptornuclear receptor subfamily 4 group A member 3
SynonymsAIS|AR8|DHTR|HUMARA|HYSP1|KD|NR3C4|SBMA|SMAX1|TFMCHN|CSMF|MINOR|NOR1|TEC
Cytomap('AR')('NR4A3')

Xq12

9q31.1

Type of geneprotein-codingprotein-coding
Descriptionandrogen receptordihydrotestosterone receptornuclear receptor subfamily 3 group C member 4nuclear receptor subfamily 4 group A member 3chondrosarcoma, extraskeletal myxoid, fused to EWSmitogen-induced nuclear orphan receptorneuron-derived orphan receptor 1nuclear hormone receptor NOR-1translocated in extraskeletal chondrosarcoma
Modification date2020032920200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000513847, ENST00000374690, 
ENST00000396043, ENST00000396044, 
ENST00000504326, 
Fusion gene scores* DoF score4 X 5 X 4=809 X 11 X 7=693
# samples 511
** MAII scorelog2(5/80*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(11/693*10)=-2.65535182861255
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: AR [Title/Abstract] AND NR4A3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointAR(66863249)-NR4A3(102587941), # 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
HgeneAR

GO:0006351

transcription, DNA-templated

15572661

HgeneAR

GO:0008284

positive regulation of cell proliferation

17277772

HgeneAR

GO:0010628

positive regulation of gene expression

24681825

HgeneAR

GO:0030521

androgen receptor signaling pathway

19886863|20048160

HgeneAR

GO:0030522

intracellular receptor signaling pathway

17277772

HgeneAR

GO:0045720

negative regulation of integrin biosynthetic process

21310825

HgeneAR

GO:0045726

positive regulation of integrin biosynthetic process

21310825

HgeneAR

GO:0045893

positive regulation of transcription, DNA-templated

11477070|12799378

HgeneAR

GO:0045944

positive regulation of transcription by RNA polymerase II

12799378|16728402|17505061|20048160|20181722

HgeneAR

GO:0045945

positive regulation of transcription by RNA polymerase III

18487222

HgeneAR

GO:1903076

regulation of protein localization to plasma membrane

21310825

HgeneAR

GO:2001237

negative regulation of extrinsic apoptotic signaling pathway

21310825

TgeneNR4A3

GO:0010828

positive regulation of glucose transmembrane transport

24022864

TgeneNR4A3

GO:0045944

positive regulation of transcription by RNA polymerase II

20558821

TgeneNR4A3

GO:0048008

platelet-derived growth factor receptor signaling pathway

23554459

TgeneNR4A3

GO:0048660

regulation of smooth muscle cell proliferation

25852083



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
ChimerDB4LIHCTCGA-G3-A7M8-01AARchrX

66863249

-NR4A3chr9

102587941

+
ChimerDB4LIHCTCGA-G3-A7M8-01AARchrX

66863249

+NR4A3chr9

102587941

+


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Fusion Gene ORF analysis for AR-NR4A3

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
3UTR-5UTRENST00000513847ENST00000338488ARchrX

66863249

+NR4A3chr9

102587941

+
3UTR-5UTRENST00000513847ENST00000395097ARchrX

66863249

+NR4A3chr9

102587941

+
3UTR-intronENST00000513847ENST00000330847ARchrX

66863249

+NR4A3chr9

102587941

+
5CDS-5UTRENST00000374690ENST00000338488ARchrX

66863249

+NR4A3chr9

102587941

+
5CDS-5UTRENST00000374690ENST00000395097ARchrX

66863249

+NR4A3chr9

102587941

+
5CDS-5UTRENST00000396043ENST00000338488ARchrX

66863249

+NR4A3chr9

102587941

+
5CDS-5UTRENST00000396043ENST00000395097ARchrX

66863249

+NR4A3chr9

102587941

+
5CDS-5UTRENST00000396044ENST00000338488ARchrX

66863249

+NR4A3chr9

102587941

+
5CDS-5UTRENST00000396044ENST00000395097ARchrX

66863249

+NR4A3chr9

102587941

+
5CDS-5UTRENST00000504326ENST00000338488ARchrX

66863249

+NR4A3chr9

102587941

+
5CDS-5UTRENST00000504326ENST00000395097ARchrX

66863249

+NR4A3chr9

102587941

+
5CDS-intronENST00000374690ENST00000330847ARchrX

66863249

+NR4A3chr9

102587941

+
5CDS-intronENST00000396043ENST00000330847ARchrX

66863249

+NR4A3chr9

102587941

+
5CDS-intronENST00000396044ENST00000330847ARchrX

66863249

+NR4A3chr9

102587941

+
5CDS-intronENST00000504326ENST00000330847ARchrX

66863249

+NR4A3chr9

102587941

+

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 AR-NR4A3


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)
ARchrX66863249+NR4A3chr9102587940+0.0002303490.9997696
ARchrX66863249+NR4A3chr9102587940+0.0002303490.9997696


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 AR-NR4A3


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/:66863249/:102587941)
- 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
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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 AR-NR4A3


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 AR-NR4A3


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 AR-NR4A3


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 AR-NR4A3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneARC0039585Androgen-Insensitivity Syndrome74CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneARC0268301Reifenstein Syndrome41CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneARC0033578Prostatic Neoplasms21CTD_human
HgeneARC0376358Malignant neoplasm of prostate21CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneARC0011570Mental Depression5PSYGENET
HgeneARC0011581Depressive disorder5PSYGENET
HgeneARC3658266Prostatic Cancer, Castration-Resistant4CTD_human
HgeneARC3658267Prostatic Neoplasms, Castration-Resistant4CTD_human
HgeneARC0021364Male infertility3CTD_human
HgeneARC0236663Alcohol withdrawal syndrome3PSYGENET
HgeneARC0848676Subfertility, Male3CTD_human
HgeneARC0917731Male sterility3CTD_human
HgeneARC0001973Alcoholic Intoxication, Chronic2PSYGENET
HgeneARC0006142Malignant neoplasm of breast2CTD_human;UNIPROT
HgeneARC0238033Carcinoma of Male Breast2CTD_human
HgeneARC0242788Breast Neoplasms, Male2CTD_human
HgeneARC0678222Breast Carcinoma2CTD_human
HgeneARC0936016Testicular Feminization2CTD_human
HgeneARC1257931Mammary Neoplasms, Human2CTD_human
HgeneARC1458155Mammary Neoplasms2CTD_human
HgeneARC2713546Androgen Receptor Deficiency2CTD_human
HgeneARC4704874Mammary Carcinoma, Human2CTD_human
HgeneARC0002170Alopecia1CTD_human
HgeneARC0004114Astrocytoma1CTD_human
HgeneARC0004352Autistic Disorder1CTD_human
HgeneARC0017412Genital Diseases, Male1CTD_human
HgeneARC0020538Hypertensive disease1CTD_human
HgeneARC0021361Female infertility1CTD_human
HgeneARC0021655Insulin Resistance1CTD_human
HgeneARC0023418leukemia1CTD_human
HgeneARC0027643Neoplasm Recurrence, Local1CTD_human
HgeneARC0038279Sterility, Postpartum1CTD_human
HgeneARC0085207Gestational Diabetes1CTD_human
HgeneARC0086873Pseudopelade1CTD_human
HgeneARC0162311Androgenetic Alopecia1CTD_human
HgeneARC0205768Subependymal Giant Cell Astrocytoma1CTD_human
HgeneARC0263477Female pattern alopecia (disorder)1CTD_human
HgeneARC0280783Juvenile Pilocytic Astrocytoma1CTD_human
HgeneARC0280785Diffuse Astrocytoma1CTD_human
HgeneARC0282612Prostatic Intraepithelial Neoplasias1CTD_human
HgeneARC0334579Anaplastic astrocytoma1CTD_human
HgeneARC0334580Protoplasmic astrocytoma1CTD_human
HgeneARC0334581Gemistocytic astrocytoma1CTD_human
HgeneARC0334582Fibrillary Astrocytoma1CTD_human
HgeneARC0334583Pilocytic Astrocytoma1CTD_human
HgeneARC0338070Childhood Cerebral Astrocytoma1CTD_human
HgeneARC0341869Subfertility, Female1CTD_human
HgeneARC0525045Mood Disorders1PSYGENET
HgeneARC0547065Mixed oligoastrocytoma1CTD_human
HgeneARC0556385Craving for alcohol1PSYGENET
HgeneARC0750935Cerebral Astrocytoma1CTD_human
HgeneARC0750936Intracranial Astrocytoma1CTD_human
HgeneARC0917730Female sterility1CTD_human
HgeneARC0920563Insulin Sensitivity1CTD_human
HgeneARC1704230Grade I Astrocytoma1CTD_human
HgeneARC2239176Liver carcinoma1CTD_human
HgeneARC4083212Alopecia, Male Pattern1CTD_human
TgeneC0003873Rheumatoid Arthritis1CTD_human
TgeneC0020443Hypercholesterolemia1CTD_human
TgeneC0021655Insulin Resistance1CTD_human
TgeneC0087031Juvenile-Onset Still Disease1CTD_human
TgeneC0920563Insulin Sensitivity1CTD_human
TgeneC1275278Extraskeletal Myxoid Chondrosarcoma1CTD_human;ORPHANET
TgeneC3495559Juvenile arthritis1CTD_human
TgeneC3714758Juvenile psoriatic arthritis1CTD_human
TgeneC4552091Polyarthritis, Juvenile, Rheumatoid Factor Negative1CTD_human
TgeneC4704862Polyarthritis, Juvenile, Rheumatoid Factor Positive1CTD_human