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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: 5846

FusionGeneSummary for CCDC36_NR3C2

check button Fusion gene summary
Fusion gene informationFusion gene name: CCDC36_NR3C2
Fusion gene ID: 5846
HgeneTgene
Gene symbol

CCDC36

NR3C2

Gene ID

339834

4306

Gene namecoiled-coil domain containing 36nuclear receptor subfamily 3 group C member 2
SynonymsCT74MCR|MLR|MR|NR3C2VIT
Cytomap

3p21.31

4q31.23

Type of geneprotein-codingprotein-coding
Descriptioninteractor of HORMAD1 protein 1cancer/testis antigen 74coiled-coil domain-containing protein 36mineralocorticoid receptoraldosterone receptormineralocorticoid receptor 1mineralocorticoid receptor 2mineralocorticoid receptor deltanuclear receptor subfamily 3, group C, member 2 variant 3
Modification date2018052220180519
UniProtAcc

Q8IYA8

P08235

Ensembl transtripts involved in fusion geneENST00000296449, ENST00000438782, 
ENST00000452691, ENST00000366429, 
ENST00000451634, ENST00000493870, 
ENST00000344721, ENST00000355292, 
ENST00000358102, ENST00000512865, 
ENST00000511528, ENST00000503313, 
Fusion gene scores* DoF score3 X 2 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: CCDC36 [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
TCGARVSARCTCGA-SG-A6Z4-01ACCDC36chr3

49237006

+NR3C2chr4

149116013

-
* 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-3CDSENST00000296449ENST00000344721CCDC36chr3

49237006

+NR3C2chr4

149116013

-
intron-3CDSENST00000296449ENST00000355292CCDC36chr3

49237006

+NR3C2chr4

149116013

-
intron-3CDSENST00000296449ENST00000358102CCDC36chr3

49237006

+NR3C2chr4

149116013

-
intron-3CDSENST00000296449ENST00000512865CCDC36chr3

49237006

+NR3C2chr4

149116013

-
intron-3CDSENST00000296449ENST00000511528CCDC36chr3

49237006

+NR3C2chr4

149116013

-
intron-5UTRENST00000296449ENST00000503313CCDC36chr3

49237006

+NR3C2chr4

149116013

-
intron-3CDSENST00000438782ENST00000344721CCDC36chr3

49237006

+NR3C2chr4

149116013

-
intron-3CDSENST00000438782ENST00000355292CCDC36chr3

49237006

+NR3C2chr4

149116013

-
intron-3CDSENST00000438782ENST00000358102CCDC36chr3

49237006

+NR3C2chr4

149116013

-
intron-3CDSENST00000438782ENST00000512865CCDC36chr3

49237006

+NR3C2chr4

149116013

-
intron-3CDSENST00000438782ENST00000511528CCDC36chr3

49237006

+NR3C2chr4

149116013

-
intron-5UTRENST00000438782ENST00000503313CCDC36chr3

49237006

+NR3C2chr4

149116013

-
5UTR-3CDSENST00000452691ENST00000344721CCDC36chr3

49237006

+NR3C2chr4

149116013

-
5UTR-3CDSENST00000452691ENST00000355292CCDC36chr3

49237006

+NR3C2chr4

149116013

-
5UTR-3CDSENST00000452691ENST00000358102CCDC36chr3

49237006

+NR3C2chr4

149116013

-
5UTR-3CDSENST00000452691ENST00000512865CCDC36chr3

49237006

+NR3C2chr4

149116013

-
5UTR-3CDSENST00000452691ENST00000511528CCDC36chr3

49237006

+NR3C2chr4

149116013

-
5UTR-5UTRENST00000452691ENST00000503313CCDC36chr3

49237006

+NR3C2chr4

149116013

-
5UTR-3CDSENST00000366429ENST00000344721CCDC36chr3

49237006

+NR3C2chr4

149116013

-
5UTR-3CDSENST00000366429ENST00000355292CCDC36chr3

49237006

+NR3C2chr4

149116013

-
5UTR-3CDSENST00000366429ENST00000358102CCDC36chr3

49237006

+NR3C2chr4

149116013

-
5UTR-3CDSENST00000366429ENST00000512865CCDC36chr3

49237006

+NR3C2chr4

149116013

-
5UTR-3CDSENST00000366429ENST00000511528CCDC36chr3

49237006

+NR3C2chr4

149116013

-
5UTR-5UTRENST00000366429ENST00000503313CCDC36chr3

49237006

+NR3C2chr4

149116013

-
intron-3CDSENST00000451634ENST00000344721CCDC36chr3

49237006

+NR3C2chr4

149116013

-
intron-3CDSENST00000451634ENST00000355292CCDC36chr3

49237006

+NR3C2chr4

149116013

-
intron-3CDSENST00000451634ENST00000358102CCDC36chr3

49237006

+NR3C2chr4

149116013

-
intron-3CDSENST00000451634ENST00000512865CCDC36chr3

49237006

+NR3C2chr4

149116013

-
intron-3CDSENST00000451634ENST00000511528CCDC36chr3

49237006

+NR3C2chr4

149116013

-
intron-5UTRENST00000451634ENST00000503313CCDC36chr3

49237006

+NR3C2chr4

149116013

-
intron-3CDSENST00000493870ENST00000344721CCDC36chr3

49237006

+NR3C2chr4

149116013

-
intron-3CDSENST00000493870ENST00000355292CCDC36chr3

49237006

+NR3C2chr4

149116013

-
intron-3CDSENST00000493870ENST00000358102CCDC36chr3

49237006

+NR3C2chr4

149116013

-
intron-3CDSENST00000493870ENST00000512865CCDC36chr3

49237006

+NR3C2chr4

149116013

-
intron-3CDSENST00000493870ENST00000511528CCDC36chr3

49237006

+NR3C2chr4

149116013

-
intron-5UTRENST00000493870ENST00000503313CCDC36chr3

49237006

+NR3C2chr4

149116013

-

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FusionProtFeatures for CCDC36_NR3C2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CCDC36

Q8IYA8

NR3C2

P08235

Required for DNA double-strand breaks (DSBs) formationin unsynapsed regions during meiotic recombination. Probably actsby forming a complex with MEI4 and REC114, which activates DSBsformation in unsynapsed regions, an essential step to ensurecompletion of synapsis. Not required for HORMAD1 functions inpairing-independent synaptonemal complex formation, ATRrecruitment to unsynapsed axes, meiotic silencing of unsynapsedchromatin (MSUC) or meiotic surveillance.{ECO:0000250|UniProtKB:Q6PDM4}. 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 CCDC36_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 CCDC36_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
CCDC36DGCR6, MVP, PRKAB2, AQP1, RUNX1T1, COX5B, GYS1, LMO2, SDCBP, FKBP6, DYNLL1, CDC23, USP2, POLR1C, ABI2, STK25, NEK6, USP20, KANK2, TTC19, C1orf109, FANCL, NGB, CARD9, MYO15B, LONRF1, MRFAP1L1, HEXIM2, DYNLL2, KLC3, IQUB, FAM124A, TRIM42, HINFP, ZGPAT, SMARCB1NR3C2TRIM24, NR3C1, PTGES3, PROX1, CAND1, UBE2I, SUMO1, NRIP1, STUB1, FKBP5, FKBP4, PPP5C, DNAJC7, PPID, AIP, HSP90AA1, ACSL1, RXRA, RABAC1, C9orf41, PSMC5, NCOA1, CREBBP, EP300, KAT2B, CAV1, PPP1CA


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 CCDC36_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
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 CCDC36_NR3C2


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