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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: 24804

FusionGeneSummary for NR3C2_NR3C2

check button Fusion gene summary
Fusion gene informationFusion gene name: NR3C2_NR3C2
Fusion gene ID: 24804
HgeneTgene
Gene symbol

NR3C2

NR3C2

Gene ID

4306

4306

Gene namenuclear receptor subfamily 3 group C member 2nuclear receptor subfamily 3 group C member 2
SynonymsMCR|MLR|MR|NR3C2VITMCR|MLR|MR|NR3C2VIT
Cytomap

4q31.23

4q31.23

Type of geneprotein-codingprotein-coding
Descriptionmineralocorticoid receptoraldosterone receptormineralocorticoid receptor 1mineralocorticoid receptor 2mineralocorticoid receptor deltanuclear receptor subfamily 3, group C, member 2 variant 3mineralocorticoid receptoraldosterone receptormineralocorticoid receptor 1mineralocorticoid receptor 2mineralocorticoid receptor deltanuclear receptor subfamily 3, group C, member 2 variant 3
Modification date2018051920180519
UniProtAcc

P08235

P08235

Ensembl transtripts involved in fusion geneENST00000344721, ENST00000355292, 
ENST00000358102, ENST00000512865, 
ENST00000511528, ENST00000503313, 
ENST00000344721, ENST00000355292, 
ENST00000358102, ENST00000512865, 
ENST00000511528, ENST00000503313, 
Fusion gene scores* DoF score2 X 3 X 2=123 X 3 X 3=27
# samples 34
** MAII scorelog2(3/12*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(4/27*10)=0.567040592723894
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: NR3C2 [Title/Abstract] AND NR3C2 [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

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
ChiTaRS3.1CA449982NR3C2chr4

149000023

+NR3C2chr4

149000477

-
ChiTaRS3.1W28789NR3C2chr4

149356705

+NR3C2chr4

149001759

-
* 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
intron-3UTRENST00000344721ENST00000344721NR3C2chr4

149000023

+NR3C2chr4

149000477

-
intron-3UTRENST00000344721ENST00000355292NR3C2chr4

149000023

+NR3C2chr4

149000477

-
intron-3UTRENST00000344721ENST00000358102NR3C2chr4

149000023

+NR3C2chr4

149000477

-
intron-intronENST00000344721ENST00000512865NR3C2chr4

149000023

+NR3C2chr4

149000477

-
intron-intronENST00000344721ENST00000511528NR3C2chr4

149000023

+NR3C2chr4

149000477

-
intron-intronENST00000344721ENST00000503313NR3C2chr4

149000023

+NR3C2chr4

149000477

-
intron-3UTRENST00000355292ENST00000344721NR3C2chr4

149000023

+NR3C2chr4

149000477

-
intron-3UTRENST00000355292ENST00000355292NR3C2chr4

149000023

+NR3C2chr4

149000477

-
intron-3UTRENST00000355292ENST00000358102NR3C2chr4

149000023

+NR3C2chr4

149000477

-
intron-intronENST00000355292ENST00000512865NR3C2chr4

149000023

+NR3C2chr4

149000477

-
intron-intronENST00000355292ENST00000511528NR3C2chr4

149000023

+NR3C2chr4

149000477

-
intron-intronENST00000355292ENST00000503313NR3C2chr4

149000023

+NR3C2chr4

149000477

-
intron-3UTRENST00000358102ENST00000344721NR3C2chr4

149000023

+NR3C2chr4

149000477

-
intron-3UTRENST00000358102ENST00000355292NR3C2chr4

149000023

+NR3C2chr4

149000477

-
intron-3UTRENST00000358102ENST00000358102NR3C2chr4

149000023

+NR3C2chr4

149000477

-
intron-intronENST00000358102ENST00000512865NR3C2chr4

149000023

+NR3C2chr4

149000477

-
intron-intronENST00000358102ENST00000511528NR3C2chr4

149000023

+NR3C2chr4

149000477

-
intron-intronENST00000358102ENST00000503313NR3C2chr4

149000023

+NR3C2chr4

149000477

-
intron-3UTRENST00000512865ENST00000344721NR3C2chr4

149000023

+NR3C2chr4

149000477

-
intron-3UTRENST00000512865ENST00000355292NR3C2chr4

149000023

+NR3C2chr4

149000477

-
intron-3UTRENST00000512865ENST00000358102NR3C2chr4

149000023

+NR3C2chr4

149000477

-
intron-intronENST00000512865ENST00000512865NR3C2chr4

149000023

+NR3C2chr4

149000477

-
intron-intronENST00000512865ENST00000511528NR3C2chr4

149000023

+NR3C2chr4

149000477

-
intron-intronENST00000512865ENST00000503313NR3C2chr4

149000023

+NR3C2chr4

149000477

-
intron-3UTRENST00000511528ENST00000344721NR3C2chr4

149000023

+NR3C2chr4

149000477

-
intron-3UTRENST00000511528ENST00000355292NR3C2chr4

149000023

+NR3C2chr4

149000477

-
intron-3UTRENST00000511528ENST00000358102NR3C2chr4

149000023

+NR3C2chr4

149000477

-
intron-intronENST00000511528ENST00000512865NR3C2chr4

149000023

+NR3C2chr4

149000477

-
intron-intronENST00000511528ENST00000511528NR3C2chr4

149000023

+NR3C2chr4

149000477

-
intron-intronENST00000511528ENST00000503313NR3C2chr4

149000023

+NR3C2chr4

149000477

-
intron-3UTRENST00000503313ENST00000344721NR3C2chr4

149000023

+NR3C2chr4

149000477

-
intron-3UTRENST00000503313ENST00000355292NR3C2chr4

149000023

+NR3C2chr4

149000477

-
intron-3UTRENST00000503313ENST00000358102NR3C2chr4

149000023

+NR3C2chr4

149000477

-
intron-intronENST00000503313ENST00000512865NR3C2chr4

149000023

+NR3C2chr4

149000477

-
intron-intronENST00000503313ENST00000511528NR3C2chr4

149000023

+NR3C2chr4

149000477

-
intron-intronENST00000503313ENST00000503313NR3C2chr4

149000023

+NR3C2chr4

149000477

-
intron-3UTRENST00000344721ENST00000344721NR3C2chr4

149356705

+NR3C2chr4

149001759

-
intron-3UTRENST00000344721ENST00000355292NR3C2chr4

149356705

+NR3C2chr4

149001759

-
intron-3UTRENST00000344721ENST00000358102NR3C2chr4

149356705

+NR3C2chr4

149001759

-
intron-3UTRENST00000344721ENST00000512865NR3C2chr4

149356705

+NR3C2chr4

149001759

-
intron-intronENST00000344721ENST00000511528NR3C2chr4

149356705

+NR3C2chr4

149001759

-
intron-intronENST00000344721ENST00000503313NR3C2chr4

149356705

+NR3C2chr4

149001759

-
intron-3UTRENST00000355292ENST00000344721NR3C2chr4

149356705

+NR3C2chr4

149001759

-
intron-3UTRENST00000355292ENST00000355292NR3C2chr4

149356705

+NR3C2chr4

149001759

-
intron-3UTRENST00000355292ENST00000358102NR3C2chr4

149356705

+NR3C2chr4

149001759

-
intron-3UTRENST00000355292ENST00000512865NR3C2chr4

149356705

+NR3C2chr4

149001759

-
intron-intronENST00000355292ENST00000511528NR3C2chr4

149356705

+NR3C2chr4

149001759

-
intron-intronENST00000355292ENST00000503313NR3C2chr4

149356705

+NR3C2chr4

149001759

-
intron-3UTRENST00000358102ENST00000344721NR3C2chr4

149356705

+NR3C2chr4

149001759

-
intron-3UTRENST00000358102ENST00000355292NR3C2chr4

149356705

+NR3C2chr4

149001759

-
intron-3UTRENST00000358102ENST00000358102NR3C2chr4

149356705

+NR3C2chr4

149001759

-
intron-3UTRENST00000358102ENST00000512865NR3C2chr4

149356705

+NR3C2chr4

149001759

-
intron-intronENST00000358102ENST00000511528NR3C2chr4

149356705

+NR3C2chr4

149001759

-
intron-intronENST00000358102ENST00000503313NR3C2chr4

149356705

+NR3C2chr4

149001759

-
intron-3UTRENST00000512865ENST00000344721NR3C2chr4

149356705

+NR3C2chr4

149001759

-
intron-3UTRENST00000512865ENST00000355292NR3C2chr4

149356705

+NR3C2chr4

149001759

-
intron-3UTRENST00000512865ENST00000358102NR3C2chr4

149356705

+NR3C2chr4

149001759

-
intron-3UTRENST00000512865ENST00000512865NR3C2chr4

149356705

+NR3C2chr4

149001759

-
intron-intronENST00000512865ENST00000511528NR3C2chr4

149356705

+NR3C2chr4

149001759

-
intron-intronENST00000512865ENST00000503313NR3C2chr4

149356705

+NR3C2chr4

149001759

-
intron-3UTRENST00000511528ENST00000344721NR3C2chr4

149356705

+NR3C2chr4

149001759

-
intron-3UTRENST00000511528ENST00000355292NR3C2chr4

149356705

+NR3C2chr4

149001759

-
intron-3UTRENST00000511528ENST00000358102NR3C2chr4

149356705

+NR3C2chr4

149001759

-
intron-3UTRENST00000511528ENST00000512865NR3C2chr4

149356705

+NR3C2chr4

149001759

-
intron-intronENST00000511528ENST00000511528NR3C2chr4

149356705

+NR3C2chr4

149001759

-
intron-intronENST00000511528ENST00000503313NR3C2chr4

149356705

+NR3C2chr4

149001759

-
intron-3UTRENST00000503313ENST00000344721NR3C2chr4

149356705

+NR3C2chr4

149001759

-
intron-3UTRENST00000503313ENST00000355292NR3C2chr4

149356705

+NR3C2chr4

149001759

-
intron-3UTRENST00000503313ENST00000358102NR3C2chr4

149356705

+NR3C2chr4

149001759

-
intron-3UTRENST00000503313ENST00000512865NR3C2chr4

149356705

+NR3C2chr4

149001759

-
intron-intronENST00000503313ENST00000511528NR3C2chr4

149356705

+NR3C2chr4

149001759

-
intron-intronENST00000503313ENST00000503313NR3C2chr4

149356705

+NR3C2chr4

149001759

-

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FusionProtFeatures for NR3C2_NR3C2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
NR3C2

P08235

NR3C2

P08235

Receptor for both mineralocorticoids (MC) such asaldosterone and glucocorticoids (GC) such as corticosterone orcortisol. Binds to mineralocorticoid response elements (MRE) andtransactivates target genes. The effect of MC is to increase ionand water transport and thus raise extracellular fluid volume andblood pressure and lower potassium levels.{ECO:0000269|PubMed:3037703}. Receptor for both mineralocorticoids (MC) such asaldosterone and glucocorticoids (GC) such as corticosterone orcortisol. Binds to mineralocorticoid response elements (MRE) andtransactivates target genes. The effect of MC is to increase ionand water transport and thus raise extracellular fluid volume andblood pressure and lower potassium levels.{ECO:0000269|PubMed:3037703}.

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 NR3C2_NR3C2


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 NR3C2_NR3C2


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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RelatedDrugs for NR3C2_NR3C2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneNR3C2P08235DB00421SpironolactoneMineralocorticoid receptorsmall moleculeapproved
HgeneNR3C2P08235DB00700EplerenoneMineralocorticoid receptorsmall moleculeapproved
HgeneNR3C2P08235DB01395DrospirenoneMineralocorticoid receptorsmall moleculeapproved
HgeneNR3C2P08235DB00393NimodipineMineralocorticoid receptorsmall moleculeapproved|investigational
HgeneNR3C2P08235DB00624TestosteroneMineralocorticoid receptorsmall moleculeapproved|investigational
HgeneNR3C2P08235DB00687FludrocortisoneMineralocorticoid receptorsmall moleculeapproved|investigational
HgeneNR3C2P08235DB01023FelodipineMineralocorticoid receptorsmall moleculeapproved|investigational
HgeneNR3C2P08235DB00396ProgesteroneMineralocorticoid receptorsmall moleculeapproved|vet_approved
TgeneNR3C2P08235DB00421SpironolactoneMineralocorticoid receptorsmall moleculeapproved
TgeneNR3C2P08235DB00700EplerenoneMineralocorticoid receptorsmall moleculeapproved
TgeneNR3C2P08235DB01395DrospirenoneMineralocorticoid receptorsmall moleculeapproved
TgeneNR3C2P08235DB00393NimodipineMineralocorticoid receptorsmall moleculeapproved|investigational
TgeneNR3C2P08235DB00624TestosteroneMineralocorticoid receptorsmall moleculeapproved|investigational
TgeneNR3C2P08235DB00687FludrocortisoneMineralocorticoid receptorsmall moleculeapproved|investigational
TgeneNR3C2P08235DB01023FelodipineMineralocorticoid receptorsmall moleculeapproved|investigational
TgeneNR3C2P08235DB00396ProgesteroneMineralocorticoid receptorsmall moleculeapproved|vet_approved

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RelatedDiseases for NR3C2_NR3C2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneNR3C2C0011570Mental Depression5PSYGENET
HgeneNR3C2C0011581Depressive disorder5PSYGENET
HgeneNR3C2C0041696Unipolar Depression4PSYGENET
HgeneNR3C2C1269683Major Depressive Disorder4PSYGENET
HgeneNR3C2C1449842Pseudohypoaldosteronism, Type I, Autosomal Dominant4ORPHANET;UNIPROT
HgeneNR3C2C1854631Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy3CTD_human;ORPHANET;UNIPROT
HgeneNR3C2C0018801Heart failure2CTD_human
HgeneNR3C2C0027051Myocardial Infarction2CTD_human
HgeneNR3C2C0001969Alcoholic Intoxication1PSYGENET
HgeneNR3C2C0001973Alcoholic Intoxication, Chronic1PSYGENET
HgeneNR3C2C0005586Bipolar Disorder1PSYGENET
HgeneNR3C2C0007193Cardiomyopathy, Dilated1CTD_human
HgeneNR3C2C0014175Endometriosis1CTD_human
HgeneNR3C2C0242698Ventricular Dysfunction, Left1CTD_human
HgeneNR3C2C0338831Manic1PSYGENET
TgeneNR3C2C0011570Mental Depression5PSYGENET
TgeneNR3C2C0011581Depressive disorder5PSYGENET
TgeneNR3C2C0041696Unipolar Depression4PSYGENET
TgeneNR3C2C1269683Major Depressive Disorder4PSYGENET
TgeneNR3C2C1449842Pseudohypoaldosteronism, Type I, Autosomal Dominant4ORPHANET;UNIPROT
TgeneNR3C2C1854631Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy3CTD_human;ORPHANET;UNIPROT
TgeneNR3C2C0018801Heart failure2CTD_human
TgeneNR3C2C0027051Myocardial Infarction2CTD_human
TgeneNR3C2C0001969Alcoholic Intoxication1PSYGENET
TgeneNR3C2C0001973Alcoholic Intoxication, Chronic1PSYGENET
TgeneNR3C2C0005586Bipolar Disorder1PSYGENET
TgeneNR3C2C0007193Cardiomyopathy, Dilated1CTD_human
TgeneNR3C2C0014175Endometriosis1CTD_human
TgeneNR3C2C0242698Ventricular Dysfunction, Left1CTD_human
TgeneNR3C2C0338831Manic1PSYGENET