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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: 24802

FusionGeneSummary for NR3C1_HMHB1

check button Fusion gene summary
Fusion gene informationFusion gene name: NR3C1_HMHB1
Fusion gene ID: 24802
HgeneTgene
Gene symbol

NR3C1

HMHB1

Gene ID

2908

57824

Gene namenuclear receptor subfamily 3 group C member 1histocompatibility minor HB-1
SynonymsGCCR|GCR|GCRST|GR|GRLHB-1|HB-1Y|HLA-HB1
Cytomap

5q31.3

5q31.3

Type of geneprotein-codingprotein-coding
Descriptionglucocorticoid receptorglucocorticoid nuclear receptor variant 1nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)minor histocompatibility protein HB-1minor histocompatibility antigen HB-1
Modification date2018051920180329
UniProtAcc

P04150

O97980

Ensembl transtripts involved in fusion geneENST00000394464, ENST00000343796, 
ENST00000415690, ENST00000424646, 
ENST00000504572, ENST00000394466, 
ENST00000231509, ENST00000416954, 
ENST00000503201, ENST00000504336, 
ENST00000289448, 
Fusion gene scores* DoF score2 X 7 X 2=281 X 1 X 1=1
# samples 91
** MAII scorelog2(9/28*10)=1.68449817427207
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(1/1*10)=3.32192809488736
Context

PubMed: NR3C1 [Title/Abstract] AND HMHB1 [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
HgeneNR3C1

GO:0006351

transcription, DNA-templated

17081986

HgeneNR3C1

GO:0006355

regulation of transcription, DNA-templated

19141540

HgeneNR3C1

GO:0045944

positive regulation of transcription by RNA polymerase II

15769988|16728402|23823477

HgeneNR3C1

GO:0071383

cellular response to steroid hormone stimulus

15769988|17635946

HgeneNR3C1

GO:0071385

cellular response to glucocorticoid stimulus

9353307

HgeneNR3C1

GO:0071560

cellular response to transforming growth factor beta stimulus

12902338

TgeneHMHB1

GO:0010468

regulation of gene expression

8992968

TgeneHMHB1

GO:0042268

regulation of cytolysis

8992968

TgeneHMHB1

GO:0071356

cellular response to tumor necrosis factor

8992968

TgeneHMHB1

GO:1902715

positive regulation of interferon-gamma secretion

8992968


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
TCGARVGBMTCGA-27-1831-01ANR3C1chr5

142693567

-HMHB1chr5

143200045

+
* 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
Frame-shitENST00000394464ENST00000289448NR3C1chr5

142693567

-HMHB1chr5

143200045

+
Frame-shitENST00000343796ENST00000289448NR3C1chr5

142693567

-HMHB1chr5

143200045

+
Frame-shitENST00000415690ENST00000289448NR3C1chr5

142693567

-HMHB1chr5

143200045

+
Frame-shitENST00000424646ENST00000289448NR3C1chr5

142693567

-HMHB1chr5

143200045

+
Frame-shitENST00000504572ENST00000289448NR3C1chr5

142693567

-HMHB1chr5

143200045

+
Frame-shitENST00000394466ENST00000289448NR3C1chr5

142693567

-HMHB1chr5

143200045

+
Frame-shitENST00000231509ENST00000289448NR3C1chr5

142693567

-HMHB1chr5

143200045

+
Frame-shitENST00000416954ENST00000289448NR3C1chr5

142693567

-HMHB1chr5

143200045

+
Frame-shitENST00000503201ENST00000289448NR3C1chr5

142693567

-HMHB1chr5

143200045

+
5UTR-3CDSENST00000504336ENST00000289448NR3C1chr5

142693567

-HMHB1chr5

143200045

+

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FusionProtFeatures for NR3C1_HMHB1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
NR3C1

P04150

HMHB1

O97980

Receptor for glucocorticoids (GC) (PubMed:27120390). Hasa dual mode of action: as a transcription factor that binds toglucocorticoid response elements (GRE), both for nuclear andmitochondrial DNA, and as a modulator of other transcriptionfactors. Affects inflammatory responses, cellular proliferationand differentiation in target tissues. Involved in chromatinremodeling (PubMed:9590696). Plays a role in rapid mRNAdegradation by binding to the 5' UTR of target mRNAs andinteracting with PNRC2 in a ligand-dependent manner which recruitsthe RNA helicase UPF1 and the mRNA-decapping enzyme DCP1A, leadingto RNA decay (PubMed:25775514). Could act as a coactivator forSTAT5-dependent transcription upon growth hormone (GH) stimulationand could reveal an essential role of hepatic GR in the control ofbody growth (By similarity). {ECO:0000250|UniProtKB:P06537,ECO:0000269|PubMed:25775514, ECO:0000269|PubMed:27120390,ECO:0000269|PubMed:9590696}. Isoform Alpha: Has transcriptional activation andrepression activity (PubMed:15866175, PubMed:19248771,PubMed:20484466, PubMed:23820903, PubMed:11435610,PubMed:15769988, PubMed:17635946, PubMed:19141540,PubMed:21664385). Mediates glucocorticoid-induced apoptosis(PubMed:23303127). Promotes accurate chromosome segregation duringmitosis (PubMed:25847991). May act as a tumor suppressor(PubMed:25847991). May play a negative role in adipogenesisthrough the regulation of lipolytic and antilipogenic geneexpression (By similarity). {ECO:0000250|UniProtKB:P06537,ECO:0000269|PubMed:11435610, ECO:0000269|PubMed:15769988,ECO:0000269|PubMed:15866175, ECO:0000269|PubMed:17635946,ECO:0000269|PubMed:19141540, ECO:0000269|PubMed:19248771,ECO:0000269|PubMed:20484466, ECO:0000269|PubMed:21664385,ECO:0000269|PubMed:23303127, ECO:0000269|PubMed:23820903,ECO:0000269|PubMed:25847991}. Isoform Beta: Acts as a dominant negative inhibitor ofisoform Alpha (PubMed:7769088, PubMed:8621628, PubMed:20484466).Has intrinsic transcriptional activity independent of isoformAlpha when both isoforms are coexpressed (PubMed:19248771,PubMed:26711253). Loses this transcription modulator function onits own (PubMed:20484466). Has no hormone-binding activity(PubMed:8621628). May play a role in controlling glucosemetabolism by maintaining insulin sensitivity (By similarity).Reduces hepatic gluconeogenesis through down-regulation of PEPCKin an isoform Alpha-dependent manner (PubMed:26711253). Directlyregulates STAT1 expression in isoform Alpha-independent manner(PubMed:26711253). {ECO:0000250|UniProtKB:P06537,ECO:0000269|PubMed:19248771, ECO:0000269|PubMed:20484466,ECO:0000269|PubMed:26711253, ECO:0000269|PubMed:7769088,ECO:0000269|PubMed:8621628}. Isoform Alpha-2: Has lower transcriptional activationactivity than isoform Alpha. Exerts a dominant negative effect onisoform Alpha trans-repression mechanism (PubMed:20484466). Isoform GR-P: Increases activity of isoform Alpha.{ECO:0000269|PubMed:11358809}. Isoform Alpha-B: More effective than isoform Alpha intranscriptional activation, but not repression activity.{ECO:0000269|PubMed:11435610, ECO:0000269|PubMed:15866175}. Isoform 10: Has transcriptional activation activity.{ECO:0000269|PubMed:20484466}. Isoform Alpha-C1: Has transcriptional activationactivity. {ECO:0000269|PubMed:15866175}. Isoform Alpha-C2: Has transcriptional activationactivity. {ECO:0000269|PubMed:15866175}. Isoform Alpha-C3: Has highest transcriptional activationactivity of all isoforms created by alternative initiation(PubMed:15866175, PubMed:23820903). Has transcriptional repressionactivity (PubMed:23303127). Mediates glucocorticoid-inducedapoptosis (PubMed:23303127, PubMed:23820903).{ECO:0000269|PubMed:15866175, ECO:0000269|PubMed:23303127,ECO:0000269|PubMed:23820903}. Isoform Alpha-D1: Has transcriptional activationactivity. {ECO:0000269|PubMed:15866175}. Isoform Alpha-D2: Has transcriptional activationactivity. {ECO:0000269|PubMed:15866175}. Isoform Alpha-D3: Has lowest transcriptional activationactivity of all isoforms created by alternative initiation(PubMed:15866175, PubMed:23820903). Has transcriptional repressionactivity (PubMed:23303127). {ECO:0000269|PubMed:15866175,ECO:0000269|PubMed:23303127, ECO:0000269|PubMed:23820903}. Precursor of the histocomplatibility antigen HB-1. Moregenerally, minor histocomplatibility antigens (mHags) refer toimmunogenic peptide which, when complexed with MHC, can generatean immune response after recognition by specific T-cells. Thepeptides are derived from polymorphic intracellular proteins,which are cleaved by normal pathways of antigen processing. Thebinding of these peptides to MHC class I or class II molecules andits expression on the cell surface can stimulate T-cell responsesand thereby trigger graft rejection or graft-versus-host disease(GVHD) after hematopoietic stem cell transplantation from HLA-identical sibling donor. GVHD is a frequent complication afterbone marrow transplantation (BMT), due to mismatch of minorhistocomplatibility antigen in HLA-matched sibling marrowtransplants. HB-1 is presented on the cell surface by MHC class IHLA-B44. This complex specifically elicits donor-cytotoxic Tlymphocyte (CTL) reactivity in B-cell acute lymphoblastic leukemia(B-ALL) after treatment by HLA-identical allogenic bone marrowtransplantation (BMT). It induces cell recognition and lysis byCTL. However, HB-1 restricted expression in B-ALL cells and not innormal tissues may allow a specific CTL reactivity against B-ALLwithout the risk of evoking graft-versus-host disease.{ECO:0000269|PubMed:15102363, ECO:0000269|PubMed:8992968,ECO:0000269|PubMed:9892612}.

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 NR3C1_HMHB1


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 NR3C1_HMHB1


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
NR3C1SFN, TGFB1I1, ECD, RAD9A, NCOA6, RANBP9, JUN, STAT3, ZBTB16, NCOA3, SMARCA4, SMARCC1, SMARCD1, SMARCE1, SMAD3, TDG, NRIP1, DAXX, MED1, NCOA1, NCOA2, CREBBP, NEDD4L, TBP, TADA2A, KDM5A, MED14, TSG101, HSPD1, RAN, ARPC5, NCOR1, HSP90AA1, TXN, POU2F1, POU2F2, PSMC3IP, DAP3, POU1F1, ETS2, CEBPB, CEBPA, HSPA1A, SVIL, HNRNPU, YWHAH, NCL, NR3C1, CREB1, NFKB1, NFKB2, RELA, STAT5B, DDX54, FKBP4, NCOA4, PIAS2, HMGB1, HMGB2, NCOR2, ADA, TRIM24, CALR, NR2F6, PBX1, HOXB1, BAG1, TP53, RAF1, PPARGC1A, TRIM28, NR3C2, ONECUT1, PTGES3, SFPQ, SMARCA2, MSX2, PML, RXRB, NR2E3, RBM14, MAFF, ZBTB20, ZBTB3, ZNF496, ZBTB9, HDAC1, GRIP1, PTMS, HDAC2, SET, LRIF1, NR2F2, EP300, MDM2, STUB1, HDAC6, FTH1, HNRNPA1, MED25, HMOX2, OSGEP, NR4A1, LCK, FYN, CD4, CD3G, NR0B1, SRC, KAT5, ELAVL1, NR1H3, SUMO1, UBE2L3, DCAF6, GNB1, GNB2, GNB2L1, FKBP5, PPP5C, DNAJC7, PPID, MAGEA11, RAD54L2, PRKDC, SRA1, RPS6KA5, POLR1D, PPARG, TMF1, CENPB, BRCC3, CD2AP, GAPVD1, HNRNPR, LARP7, MTA2, CCDC6, SF3A1, RABEP2, TXN2, TTC5, EGFR, UBE2I, SGTA, IDE, COPS6, FGFR1OP, DYNLT1, ANLN, CERK, MBOAT1, TEAD2, FOXJ2, FOXL1, DNMT3L, HSPA4, FNIP1, FNIP2, IL17RA, KMT2D, SMARCC2, CPVL, TCF20, GSE1, ARID1A, JMJD1C, ARID1B, BCOR, SPEN, ARID3B, POGZ, KDM1A, RAI1, IRF2BP2, RBM34, CTSB, CNBP, H2AFY2, SMARCB1, SMCHD1, NUP210, TLE3, RCOR1, TFAP2A, DBT, DDX19A, PARP1, LANCL1, HNRNPH3, TOP1, ZNF512, DDX47, TRA2A, SRSF1, ALDH18A1, HNRNPDL, SRSF9, CENPV, MCM5, KARS, KPNA1, SDCCAG3, SLC16A1, ZNF420, CKAP4, NUP188, DDX27, ZFX, DLST, PPAN, PWP1, RBFOX2, SEC63, TESHMHB1


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 NR3C1_HMHB1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneNR3C1P04150DB00223DiflorasoneGlucocorticoid receptorsmall moleculeapproved
HgeneNR3C1P04150DB00240AlclometasoneGlucocorticoid receptorsmall moleculeapproved
HgeneNR3C1P04150DB00253MedrysoneGlucocorticoid receptorsmall moleculeapproved
HgeneNR3C1P04150DB00288AmcinonideGlucocorticoid receptorsmall moleculeapproved
HgeneNR3C1P04150DB00421SpironolactoneGlucocorticoid receptorsmall moleculeapproved
HgeneNR3C1P04150DB00547DesoximetasoneGlucocorticoid receptorsmall moleculeapproved
HgeneNR3C1P04150DB00596UlobetasolGlucocorticoid receptorsmall moleculeapproved
HgeneNR3C1P04150DB00838ClocortoloneGlucocorticoid receptorsmall moleculeapproved
HgeneNR3C1P04150DB00846FlurandrenolideGlucocorticoid receptorsmall moleculeapproved
HgeneNR3C1P04150DB00873LoteprednolGlucocorticoid receptorsmall moleculeapproved
HgeneNR3C1P04150DB00896RimexoloneGlucocorticoid receptorsmall moleculeapproved
HgeneNR3C1P04150DB01222BudesonideGlucocorticoid receptorsmall moleculeapproved
HgeneNR3C1P04150DB01384ParamethasoneGlucocorticoid receptorsmall moleculeapproved
HgeneNR3C1P04150DB06781DifluprednateGlucocorticoid receptorsmall moleculeapproved
HgeneNR3C1P04150DB08867UlipristalGlucocorticoid receptorsmall moleculeapproved
HgeneNR3C1P04150DB08906Fluticasone furoateGlucocorticoid receptorsmall moleculeapproved
HgeneNR3C1P04150DB11619GestrinoneGlucocorticoid receptorsmall moleculeapproved
HgeneNR3C1P04150DB13158ClobetasoneGlucocorticoid receptorsmall moleculeapproved
HgeneNR3C1P04150DB01185FluoxymesteroneGlucocorticoid receptorsmall moleculeapproved|illicit
HgeneNR3C1P04150DB00180FlunisolideGlucocorticoid receptorsmall moleculeapproved|investigational
HgeneNR3C1P04150DB00324FluorometholoneGlucocorticoid receptorsmall moleculeapproved|investigational
HgeneNR3C1P04150DB00394Beclomethasone dipropionateGlucocorticoid receptorsmall moleculeapproved|investigational
HgeneNR3C1P04150DB00687FludrocortisoneGlucocorticoid receptorsmall moleculeapproved|investigational
HgeneNR3C1P04150DB00834MifepristoneGlucocorticoid receptorsmall moleculeapproved|investigational
HgeneNR3C1P04150DB01047FluocinonideGlucocorticoid receptorsmall moleculeapproved|investigational
HgeneNR3C1P04150DB01130PrednicarbateGlucocorticoid receptorsmall moleculeapproved|investigational
HgeneNR3C1P04150DB01260DesonideGlucocorticoid receptorsmall moleculeapproved|investigational
HgeneNR3C1P04150DB01380Cortisone acetateGlucocorticoid receptorsmall moleculeapproved|investigational
HgeneNR3C1P04150DB01410CiclesonideGlucocorticoid receptorsmall moleculeapproved|investigational
HgeneNR3C1P04150DB00351Megestrol acetateGlucocorticoid receptorsmall moleculeapproved|investigational|vet_approved
HgeneNR3C1P04150DB00591Fluocinolone AcetonideGlucocorticoid receptorsmall moleculeapproved|investigational|vet_approved
HgeneNR3C1P04150DB01234DexamethasoneGlucocorticoid receptorsmall moleculeapproved|investigational|vet_approved
HgeneNR3C1P04150DB09095DifluocortoloneGlucocorticoid receptorsmall moleculeapproved|investigational|withdrawn
HgeneNR3C1P04150DB00396ProgesteroneGlucocorticoid receptorsmall moleculeapproved|vet_approved
HgeneNR3C1P04150DB00443BetamethasoneGlucocorticoid receptorsmall moleculeapproved|vet_approved
HgeneNR3C1P04150DB00620TriamcinoloneGlucocorticoid receptorsmall moleculeapproved|vet_approved
HgeneNR3C1P04150DB00635PrednisoneGlucocorticoid receptorsmall moleculeapproved|vet_approved
HgeneNR3C1P04150DB00663FlumethasoneGlucocorticoid receptorsmall moleculeapproved|vet_approved
HgeneNR3C1P04150DB00741HydrocortisoneGlucocorticoid receptorsmall moleculeapproved|vet_approved
HgeneNR3C1P04150DB00764MometasoneGlucocorticoid receptorsmall moleculeapproved|vet_approved
HgeneNR3C1P04150DB00860PrednisoloneGlucocorticoid receptorsmall moleculeapproved|vet_approved
HgeneNR3C1P04150DB00959MethylprednisoloneGlucocorticoid receptorsmall moleculeapproved|vet_approved
HgeneNR3C1P04150DB09091TixocortolGlucocorticoid receptorsmall moleculeapproved|withdrawn

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RelatedDiseases for NR3C1_HMHB1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneNR3C1C1841972Glucocorticoid Receptor Deficiency9ORPHANET;UNIPROT
HgeneNR3C1C0005586Bipolar Disorder6CTD_human;PSYGENET
HgeneNR3C1C0011581Depressive disorder6CTD_human;PSYGENET
HgeneNR3C1C0011570Mental Depression5PSYGENET
HgeneNR3C1C0041696Unipolar Depression5PSYGENET
HgeneNR3C1C0525045Mood Disorders5PSYGENET
HgeneNR3C1C1269683Major Depressive Disorder5PSYGENET
HgeneNR3C1C0001969Alcoholic Intoxication2PSYGENET
HgeneNR3C1C0020538Hypertensive disease2CTD_human;HPO
HgeneNR3C1C0036341Schizophrenia2CTD_human
HgeneNR3C1C0236736Cocaine-Related Disorders2CTD_human
HgeneNR3C1C0014175Endometriosis1CTD_human
HgeneNR3C1C0020621Hypokalemia1CTD_human;HPO
HgeneNR3C1C0028840Ocular Hypertension1CTD_human
HgeneNR3C1C0033578Prostatic Neoplasms1CTD_human
HgeneNR3C1C0033975Psychotic Disorders1CTD_human
HgeneNR3C1C0600260Lung Diseases, Obstructive1CTD_human
HgeneNR3C1C293640346, XX Disorders of Sex Development1CTD_human