Fusion Gene Studies
in Kim Lab

FusionBase FusionGDB FusionGDB2 FusionPDB FusionNeoAntigen FusionAI FusionNW FGviewer Publication Contact
FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:GSK3B-ARNT (FusionGDB2 ID:HG2932TG405)

Fusion Gene Summary for GSK3B-ARNT

check button Fusion gene summary
Fusion gene informationFusion gene name: GSK3B-ARNT
Fusion gene ID: hg2932tg405
HgeneTgene
Gene symbol

GSK3B

ARNT

Gene ID

2932

405

Gene nameglycogen synthase kinase 3 betaaryl hydrocarbon receptor nuclear translocator
Synonyms-HIF-1-beta|HIF-1beta|HIF1-beta|HIF1B|HIF1BETA|TANGO|bHLHe2
Cytomap('GSK3B')('ARNT')

3q13.33

1q21.3

Type of geneprotein-codingprotein-coding
Descriptionglycogen synthase kinase-3 betaGSK-3 betaGSK3beta isoformserine/threonine-protein kinase GSK3Baryl hydrocarbon receptor nuclear translocatorclass E basic helix-loop-helix protein 2dioxin receptor, nuclear translocatorhypoxia-inducible factor 1, beta subunit
Modification date2020031520200315
UniProtAcc

P49841

.
Ensembl transtripts involved in fusion geneENST00000264235, ENST00000316626, 
ENST00000473886, 
Fusion gene scores* DoF score31 X 22 X 12=81849 X 6 X 6=324
# samples 369
** MAII scorelog2(36/8184*10)=-4.50673733341565
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(9/324*10)=-1.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: GSK3B [Title/Abstract] AND ARNT [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointGSK3B(119582266)-ARNT(150790506), # samples:1
Anticipated loss of major functional domain due to fusion event.GSK3B-ARNT seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
GSK3B-ARNT seems lost the major protein functional domain in Hgene partner, which is a kinase due to the frame-shifted ORF.
GSK3B-ARNT seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
GSK3B-ARNT seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF.
GSK3B-ARNT seems lost the major protein functional domain in Tgene partner, which is a transcription factor due to the frame-shifted ORF.
* 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
HgeneGSK3B

GO:0005977

glycogen metabolic process

8638126

HgeneGSK3B

GO:0006468

protein phosphorylation

11035810|16315267|20937854

HgeneGSK3B

GO:0006983

ER overload response

14744935

HgeneGSK3B

GO:0018105

peptidyl-serine phosphorylation

8638126|11104755|11955436|14744935|17139249

HgeneGSK3B

GO:0018107

peptidyl-threonine phosphorylation

11955436|17139249|25897075

HgeneGSK3B

GO:0031175

neuron projection development

19830702

HgeneGSK3B

GO:0031334

positive regulation of protein complex assembly

8638126

HgeneGSK3B

GO:0032091

negative regulation of protein binding

16890161

HgeneGSK3B

GO:0032436

positive regulation of proteasomal ubiquitin-dependent protein catabolic process

19364825

HgeneGSK3B

GO:0035556

intracellular signal transduction

14749367

HgeneGSK3B

GO:0043066

negative regulation of apoptotic process

14744935

HgeneGSK3B

GO:0046777

protein autophosphorylation

23184662

HgeneGSK3B

GO:0046827

positive regulation of protein export from nucleus

14744935

HgeneGSK3B

GO:1901215

negative regulation of neuron death

19830702

HgeneGSK3B

GO:1901216

positive regulation of neuron death

18508033

HgeneGSK3B

GO:2000300

regulation of synaptic vesicle exocytosis

17989287

TgeneARNT

GO:0001666

response to hypoxia

8756616

TgeneARNT

GO:0010575

positive regulation of vascular endothelial growth factor production

8756616

TgeneARNT

GO:0043619

regulation of transcription from RNA polymerase II promoter in response to oxidative stress

8089148

TgeneARNT

GO:0045893

positive regulation of transcription, DNA-templated

8089148

TgeneARNT

GO:0046886

positive regulation of hormone biosynthetic process

1448077



check button Fusion gene information
* 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
ChimerDB4PRADTCGA-EJ-7783-01AGSK3Bchr3

119582266

-ARNTchr1

150790506

-


Top

Fusion Gene ORF analysis for GSK3B-ARNT

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
5CDS-intronENST00000264235ENST00000468970GSK3Bchr3

119582266

-ARNTchr1

150790506

-
5CDS-intronENST00000316626ENST00000468970GSK3Bchr3

119582266

-ARNTchr1

150790506

-
5UTR-3CDSENST00000473886ENST00000354396GSK3Bchr3

119582266

-ARNTchr1

150790506

-
5UTR-3CDSENST00000473886ENST00000358595GSK3Bchr3

119582266

-ARNTchr1

150790506

-
5UTR-3CDSENST00000473886ENST00000505755GSK3Bchr3

119582266

-ARNTchr1

150790506

-
5UTR-3CDSENST00000473886ENST00000515192GSK3Bchr3

119582266

-ARNTchr1

150790506

-
5UTR-intronENST00000473886ENST00000468970GSK3Bchr3

119582266

-ARNTchr1

150790506

-
Frame-shiftENST00000264235ENST00000354396GSK3Bchr3

119582266

-ARNTchr1

150790506

-
Frame-shiftENST00000264235ENST00000358595GSK3Bchr3

119582266

-ARNTchr1

150790506

-
Frame-shiftENST00000264235ENST00000505755GSK3Bchr3

119582266

-ARNTchr1

150790506

-
Frame-shiftENST00000264235ENST00000515192GSK3Bchr3

119582266

-ARNTchr1

150790506

-
Frame-shiftENST00000316626ENST00000354396GSK3Bchr3

119582266

-ARNTchr1

150790506

-
Frame-shiftENST00000316626ENST00000358595GSK3Bchr3

119582266

-ARNTchr1

150790506

-
Frame-shiftENST00000316626ENST00000505755GSK3Bchr3

119582266

-ARNTchr1

150790506

-
Frame-shiftENST00000316626ENST00000515192GSK3Bchr3

119582266

-ARNTchr1

150790506

-

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

Top

Fusion Genomic Features for GSK3B-ARNT


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)


Top

Fusion Protein Features for GSK3B-ARNT


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/:119582266/:150790506)
- 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
GSK3B

P49841

.
FUNCTION: Constitutively active protein kinase that acts as a negative regulator in the hormonal control of glucose homeostasis, Wnt signaling and regulation of transcription factors and microtubules, by phosphorylating and inactivating glycogen synthase (GYS1 or GYS2), EIF2B, CTNNB1/beta-catenin, APC, AXIN1, DPYSL2/CRMP2, JUN, NFATC1/NFATC, MAPT/TAU and MACF1. Requires primed phosphorylation of the majority of its substrates. In skeletal muscle, contributes to insulin regulation of glycogen synthesis by phosphorylating and inhibiting GYS1 activity and hence glycogen synthesis. May also mediate the development of insulin resistance by regulating activation of transcription factors. Regulates protein synthesis by controlling the activity of initiation factor 2B (EIF2BE/EIF2B5) in the same manner as glycogen synthase. In Wnt signaling, GSK3B forms a multimeric complex with APC, AXIN1 and CTNNB1/beta-catenin and phosphorylates the N-terminus of CTNNB1 leading to its degradation mediated by ubiquitin/proteasomes. Phosphorylates JUN at sites proximal to its DNA-binding domain, thereby reducing its affinity for DNA. Phosphorylates NFATC1/NFATC on conserved serine residues promoting NFATC1/NFATC nuclear export, shutting off NFATC1/NFATC gene regulation, and thereby opposing the action of calcineurin. Phosphorylates MAPT/TAU on 'Thr-548', decreasing significantly MAPT/TAU ability to bind and stabilize microtubules. MAPT/TAU is the principal component of neurofibrillary tangles in Alzheimer disease. Plays an important role in ERBB2-dependent stabilization of microtubules at the cell cortex. Phosphorylates MACF1, inhibiting its binding to microtubules which is critical for its role in bulge stem cell migration and skin wound repair. Probably regulates NF-kappa-B (NFKB1) at the transcriptional level and is required for the NF-kappa-B-mediated anti-apoptotic response to TNF-alpha (TNF/TNFA). Negatively regulates replication in pancreatic beta-cells, resulting in apoptosis, loss of beta-cells and diabetes. Through phosphorylation of the anti-apoptotic protein MCL1, may control cell apoptosis in response to growth factors deprivation. Phosphorylates MUC1 in breast cancer cells, decreasing the interaction of MUC1 with CTNNB1/beta-catenin. Is necessary for the establishment of neuronal polarity and axon outgrowth. Phosphorylates MARK2, leading to inhibit its activity. Phosphorylates SIK1 at 'Thr-182', leading to sustain its activity. Phosphorylates ZC3HAV1 which enhances its antiviral activity. Phosphorylates SNAI1, leading to its BTRC-triggered ubiquitination and proteasomal degradation. Phosphorylates SFPQ at 'Thr-687' upon T-cell activation. Phosphorylates NR1D1 st 'Ser-55' and 'Ser-59' and stabilizes it by protecting it from proteasomal degradation. Regulates the circadian clock via phosphorylation of the major clock components including ARNTL/BMAL1, CLOCK and PER2 (PubMed:19946213, PubMed:28903391). Phosphorylates CLOCK AT 'Ser-427' and targets it for proteasomal degradation (PubMed:19946213). Phosphorylates ARNTL/BMAL1 at 'Ser-17' and 'Ser-21' and primes it for ubiquitination and proteasomal degradation (PubMed:28903391). Phosphorylates OGT at 'Ser-3' or 'Ser-4' which positively regulates its activity. Phosphorylates MYCN in neuroblastoma cells which may promote its degradation (PubMed:24391509). Regulates the circadian rhythmicity of hippocampal long-term potentiation and ARNTL/BMLA1 and PER2 expression (By similarity). Acts as a regulator of autophagy by mediating phosphorylation of KAT5/TIP60 under starvation conditions, leading to activate KAT5/TIP60 acetyltransferase activity and promote acetylation of key autophagy regulators, such as ULK1 and RUBCNL/Pacer (PubMed:30704899). Negatively regulates extrinsic apoptotic signaling pathway via death domain receptors. Promotes the formation of an anti-apoptotic complex, made of DDX3X, BRIC2 and GSK3B, at death receptors, including TNFRSF10B. The anti-apoptotic function is most effective with weak apoptotic signals and can be overcome by stronger stimulation (PubMed:18846110). {ECO:0000250|UniProtKB:Q9WV60, ECO:0000269|PubMed:11430833, ECO:0000269|PubMed:12554650, ECO:0000269|PubMed:14690523, ECO:0000269|PubMed:15448698, ECO:0000269|PubMed:15647282, ECO:0000269|PubMed:16484495, ECO:0000269|PubMed:18348280, ECO:0000269|PubMed:1846781, ECO:0000269|PubMed:18846110, ECO:0000269|PubMed:19946213, ECO:0000269|PubMed:20932480, ECO:0000269|PubMed:20937854, ECO:0000269|PubMed:22514281, ECO:0000269|PubMed:24391509, ECO:0000269|PubMed:28903391, ECO:0000269|PubMed:30704899, ECO:0000269|PubMed:8397507, ECO:0000269|PubMed:9072970, ECO:0000269|PubMed:9819408}.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


Top

Fusion Gene Sequence for GSK3B-ARNT


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.

Top

Fusion Gene PPI Analysis for GSK3B-ARNT


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


Top

Related Drugs for GSK3B-ARNT


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneGSK3BP49841DB14507Lithium citrateSmall moleculeApproved
HgeneGSK3BP49841DB14509Lithium carbonateSmall moleculeApproved
HgeneGSK3BP49841DB12010FostamatinibInhibitorSmall moleculeApproved|Investigational

Top

Related Diseases for GSK3B-ARNT


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneGSK3BC0005586Bipolar Disorder6CTD_human;PSYGENET
HgeneGSK3BC0011581Depressive disorder5CTD_human;PSYGENET
HgeneGSK3BC1269683Major Depressive Disorder5PSYGENET
HgeneGSK3BC0011570Mental Depression3PSYGENET
HgeneGSK3BC0002395Alzheimer's Disease2CTD_human
HgeneGSK3BC0011265Presenile dementia2CTD_human
HgeneGSK3BC0011573Endogenous depression2CTD_human
HgeneGSK3BC0025193Melancholia2CTD_human
HgeneGSK3BC0033578Prostatic Neoplasms2CTD_human
HgeneGSK3BC0036341Schizophrenia2CTD_human
HgeneGSK3BC0041696Unipolar Depression2CTD_human
HgeneGSK3BC0086133Depressive Syndrome2CTD_human
HgeneGSK3BC0276496Familial Alzheimer Disease (FAD)2CTD_human
HgeneGSK3BC0282126Depression, Neurotic2CTD_human
HgeneGSK3BC0376358Malignant neoplasm of prostate2CTD_human
HgeneGSK3BC0494463Alzheimer Disease, Late Onset2CTD_human
HgeneGSK3BC0525045Mood Disorders2PSYGENET
HgeneGSK3BC0546126Acute Confusional Senile Dementia2CTD_human
HgeneGSK3BC0750900Alzheimer's Disease, Focal Onset2CTD_human
HgeneGSK3BC0750901Alzheimer Disease, Early Onset2CTD_human
HgeneGSK3BC0000772Multiple congenital anomalies1CTD_human
HgeneGSK3BC0003865Arthritis, Adjuvant-Induced1CTD_human
HgeneGSK3BC0005587Depression, Bipolar1CTD_human
HgeneGSK3BC0007621Neoplastic Cell Transformation1CTD_human
HgeneGSK3BC0009241Cognition Disorders1CTD_human
HgeneGSK3BC0018800Cardiomegaly1CTD_human
HgeneGSK3BC0018801Heart failure1CTD_human
HgeneGSK3BC0018802Congestive heart failure1CTD_human
HgeneGSK3BC0020538Hypertensive disease1CTD_human
HgeneGSK3BC0022660Kidney Failure, Acute1CTD_human
HgeneGSK3BC0023212Left-Sided Heart Failure1CTD_human
HgeneGSK3BC0024713Manic Disorder1CTD_human
HgeneGSK3BC0026846Muscular Atrophy1CTD_human
HgeneGSK3BC0027051Myocardial Infarction1CTD_human
HgeneGSK3BC0031154Peritonitis1CTD_human
HgeneGSK3BC0235527Heart Failure, Right-Sided1CTD_human
HgeneGSK3BC0270948Neurogenic Muscular Atrophy1CTD_human
HgeneGSK3BC0334634Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse1CTD_human
HgeneGSK3BC0338831Manic1CTD_human
HgeneGSK3BC0751958Lymphoma, Lymphocytic, Intermediate1CTD_human
HgeneGSK3BC0949664Tauopathies1CTD_human
HgeneGSK3BC0971858Arthritis, Collagen-Induced1CTD_human
HgeneGSK3BC0993582Arthritis, Experimental1CTD_human
HgeneGSK3BC1383860Cardiac Hypertrophy1CTD_human
HgeneGSK3BC1449646Primary Peritonitis1CTD_human
HgeneGSK3BC1449647Secondary Peritonitis1CTD_human
HgeneGSK3BC1565662Acute Kidney Insufficiency1CTD_human
HgeneGSK3BC1866282CEROID LIPOFUSCINOSIS, NEURONAL, 61CTD_human
HgeneGSK3BC1959583Myocardial Failure1CTD_human
HgeneGSK3BC1961112Heart Decompensation1CTD_human
HgeneGSK3BC2609414Acute kidney injury1CTD_human
TgeneC0000786Spontaneous abortion1CTD_human
TgeneC0000822Abortion, Tubal1CTD_human
TgeneC0009402Colorectal Carcinoma1CTD_human
TgeneC0009404Colorectal Neoplasms1CTD_human
TgeneC0014175Endometriosis1CTD_human
TgeneC0019193Hepatitis, Toxic1CTD_human
TgeneC0023452Childhood Acute Lymphoblastic Leukemia1CTD_human
TgeneC0023453L2 Acute Lymphoblastic Leukemia1CTD_human
TgeneC0023890Liver Cirrhosis1CTD_human
TgeneC0025202melanoma1CTD_human
TgeneC0027659Neoplasms, Experimental1CTD_human
TgeneC0239946Fibrosis, Liver1CTD_human
TgeneC0269102Endometrioma1CTD_human
TgeneC0860207Drug-Induced Liver Disease1CTD_human
TgeneC1262760Hepatitis, Drug-Induced1CTD_human
TgeneC1961102Precursor Cell Lymphoblastic Leukemia Lymphoma1CTD_human
TgeneC3658290Drug-Induced Acute Liver Injury1CTD_human
TgeneC3830362Early Pregnancy Loss1CTD_human
TgeneC4277682Chemical and Drug Induced Liver Injury1CTD_human
TgeneC4279912Chemically-Induced Liver Toxicity1CTD_human
TgeneC4552766Miscarriage1CTD_human