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:CREB1-NFE2L2 (FusionGDB2 ID:HG1385TG4780)

Fusion Gene Summary for CREB1-NFE2L2

check button Fusion gene summary
Fusion gene informationFusion gene name: CREB1-NFE2L2
Fusion gene ID: hg1385tg4780
HgeneTgene
Gene symbol

CREB1

NFE2L2

Gene ID

1385

4780

Gene namecAMP responsive element binding protein 1nuclear factor, erythroid 2 like 2
SynonymsCREB|CREB-1HEBP1|IMDDHH|NRF2|Nrf-2
Cytomap('CREB1')('NFE2L2')

2q33.3

2q31.2

Type of geneprotein-codingprotein-coding
Descriptioncyclic AMP-responsive element-binding protein 1active transcription factor CREBcAMP-response element-binding protein-1cyclic adenosine 3',5'-monophosphate response element binding proteincyclic adenosine 3',5'-monophosphate response element-binding prnuclear factor erythroid 2-related factor 2nuclear factor erythroid-derived 2-like 2
Modification date2020031520200329
UniProtAcc

P16220

.
Ensembl transtripts involved in fusion geneENST00000353267, ENST00000374397, 
ENST00000432329, ENST00000536726, 
ENST00000430624, ENST00000451164, 
ENST00000539789, 
Fusion gene scores* DoF score8 X 5 X 6=24023 X 16 X 12=4416
# samples 828
** MAII scorelog2(8/240*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(28/4416*10)=-3.9792414398332
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CREB1 [Title/Abstract] AND NFE2L2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCREB1(208394858)-NFE2L2(178098999), # samples:1
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
HgeneCREB1

GO:0006468

protein phosphorylation

8798441

HgeneCREB1

GO:0010033

response to organic substance

8798441

HgeneCREB1

GO:0010944

negative regulation of transcription by competitive promoter binding

19861239

HgeneCREB1

GO:0045944

positive regulation of transcription by RNA polymerase II

1655749|8798441|19861239

TgeneNFE2L2

GO:0010499

proteasomal ubiquitin-independent protein catabolic process

19424503

TgeneNFE2L2

GO:0016567

protein ubiquitination

15983046

TgeneNFE2L2

GO:0043161

proteasome-mediated ubiquitin-dependent protein catabolic process

15983046

TgeneNFE2L2

GO:0045944

positive regulation of transcription by RNA polymerase II

17015834

TgeneNFE2L2

GO:0071498

cellular response to fluid shear stress

25190803



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
ChimerDB4Non-CancerTCGA-IN-8462-11ACREB1chr2

208394858

+NFE2L2chr2

178098999

-


Top

Fusion Gene ORF analysis for CREB1-NFE2L2

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
5UTR-5UTRENST00000353267ENST00000397062CREB1chr2

208394858

+NFE2L2chr2

178098999

-
5UTR-5UTRENST00000353267ENST00000397063CREB1chr2

208394858

+NFE2L2chr2

178098999

-
5UTR-5UTRENST00000353267ENST00000423513CREB1chr2

208394858

+NFE2L2chr2

178098999

-
5UTR-5UTRENST00000353267ENST00000446151CREB1chr2

208394858

+NFE2L2chr2

178098999

-
5UTR-5UTRENST00000353267ENST00000464747CREB1chr2

208394858

+NFE2L2chr2

178098999

-
5UTR-5UTRENST00000374397ENST00000397062CREB1chr2

208394858

+NFE2L2chr2

178098999

-
5UTR-5UTRENST00000374397ENST00000397063CREB1chr2

208394858

+NFE2L2chr2

178098999

-
5UTR-5UTRENST00000374397ENST00000423513CREB1chr2

208394858

+NFE2L2chr2

178098999

-
5UTR-5UTRENST00000374397ENST00000446151CREB1chr2

208394858

+NFE2L2chr2

178098999

-
5UTR-5UTRENST00000374397ENST00000464747CREB1chr2

208394858

+NFE2L2chr2

178098999

-
5UTR-5UTRENST00000432329ENST00000397062CREB1chr2

208394858

+NFE2L2chr2

178098999

-
5UTR-5UTRENST00000432329ENST00000397063CREB1chr2

208394858

+NFE2L2chr2

178098999

-
5UTR-5UTRENST00000432329ENST00000423513CREB1chr2

208394858

+NFE2L2chr2

178098999

-
5UTR-5UTRENST00000432329ENST00000446151CREB1chr2

208394858

+NFE2L2chr2

178098999

-
5UTR-5UTRENST00000432329ENST00000464747CREB1chr2

208394858

+NFE2L2chr2

178098999

-
5UTR-5UTRENST00000536726ENST00000397062CREB1chr2

208394858

+NFE2L2chr2

178098999

-
5UTR-5UTRENST00000536726ENST00000397063CREB1chr2

208394858

+NFE2L2chr2

178098999

-
5UTR-5UTRENST00000536726ENST00000423513CREB1chr2

208394858

+NFE2L2chr2

178098999

-
5UTR-5UTRENST00000536726ENST00000446151CREB1chr2

208394858

+NFE2L2chr2

178098999

-
5UTR-5UTRENST00000536726ENST00000464747CREB1chr2

208394858

+NFE2L2chr2

178098999

-
intron-5UTRENST00000430624ENST00000397062CREB1chr2

208394858

+NFE2L2chr2

178098999

-
intron-5UTRENST00000430624ENST00000397063CREB1chr2

208394858

+NFE2L2chr2

178098999

-
intron-5UTRENST00000430624ENST00000423513CREB1chr2

208394858

+NFE2L2chr2

178098999

-
intron-5UTRENST00000430624ENST00000446151CREB1chr2

208394858

+NFE2L2chr2

178098999

-
intron-5UTRENST00000430624ENST00000464747CREB1chr2

208394858

+NFE2L2chr2

178098999

-
intron-5UTRENST00000451164ENST00000397062CREB1chr2

208394858

+NFE2L2chr2

178098999

-
intron-5UTRENST00000451164ENST00000397063CREB1chr2

208394858

+NFE2L2chr2

178098999

-
intron-5UTRENST00000451164ENST00000423513CREB1chr2

208394858

+NFE2L2chr2

178098999

-
intron-5UTRENST00000451164ENST00000446151CREB1chr2

208394858

+NFE2L2chr2

178098999

-
intron-5UTRENST00000451164ENST00000464747CREB1chr2

208394858

+NFE2L2chr2

178098999

-
intron-5UTRENST00000539789ENST00000397062CREB1chr2

208394858

+NFE2L2chr2

178098999

-
intron-5UTRENST00000539789ENST00000397063CREB1chr2

208394858

+NFE2L2chr2

178098999

-
intron-5UTRENST00000539789ENST00000423513CREB1chr2

208394858

+NFE2L2chr2

178098999

-
intron-5UTRENST00000539789ENST00000446151CREB1chr2

208394858

+NFE2L2chr2

178098999

-
intron-5UTRENST00000539789ENST00000464747CREB1chr2

208394858

+NFE2L2chr2

178098999

-

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 CREB1-NFE2L2


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 CREB1-NFE2L2


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/:208394858/:178098999)
- 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
CREB1

P16220

.
FUNCTION: Phosphorylation-dependent transcription factor that stimulates transcription upon binding to the DNA cAMP response element (CRE), a sequence present in many viral and cellular promoters. Transcription activation is enhanced by the TORC coactivators which act independently of Ser-119 phosphorylation. Involved in different cellular processes including the synchronization of circadian rhythmicity and the differentiation of adipose cells.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 CREB1-NFE2L2


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 CREB1-NFE2L2


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 CREB1-NFE2L2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneCREB1P16220DB00131Adenosine phosphateActivatorSmall moleculeApproved|Investigational|Nutraceutical
HgeneCREB1P16220DB01183NaloxoneOther/unknownSmall moleculeApproved|Vet_approved

Top

Related Diseases for CREB1-NFE2L2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCREB1C0011570Mental Depression5PSYGENET
HgeneCREB1C0011581Depressive disorder5PSYGENET
HgeneCREB1C0041696Unipolar Depression5PSYGENET
HgeneCREB1C0525045Mood Disorders5PSYGENET
HgeneCREB1C1269683Major Depressive Disorder5PSYGENET
HgeneCREB1C0600427Cocaine Dependence4CTD_human;PSYGENET
HgeneCREB1C0001973Alcoholic Intoxication, Chronic3PSYGENET
HgeneCREB1C0005586Bipolar Disorder3PSYGENET
HgeneCREB1C0009171Cocaine Abuse3CTD_human
HgeneCREB1C0036341Schizophrenia3PSYGENET
HgeneCREB1C0236736Cocaine-Related Disorders3CTD_human
HgeneCREB1C0026552Morphine Dependence1CTD_human
HgeneCREB1C0027051Myocardial Infarction1CTD_human
HgeneCREB1C0027627Neoplasm Metastasis1CTD_human
HgeneCREB1C0038587Substance Withdrawal Syndrome1CTD_human
HgeneCREB1C0086189Drug Withdrawal Symptoms1CTD_human
HgeneCREB1C0087169Withdrawal Symptoms1CTD_human
HgeneCREB1C0151779Cutaneous Melanoma1CTD_human
HgeneCREB1C0206651Clear Cell Sarcoma of Soft Tissue1ORPHANET
HgeneCREB1C0600272Morphine Abuse1CTD_human
TgeneC0019193Hepatitis, Toxic5CTD_human
TgeneC0860207Drug-Induced Liver Disease5CTD_human
TgeneC1262760Hepatitis, Drug-Induced5CTD_human
TgeneC3658290Drug-Induced Acute Liver Injury5CTD_human
TgeneC4277682Chemical and Drug Induced Liver Injury5CTD_human
TgeneC4279912Chemically-Induced Liver Toxicity5CTD_human
TgeneC0007131Non-Small Cell Lung Carcinoma2CGI;CTD_human
TgeneC0033578Prostatic Neoplasms2CTD_human
TgeneC0376358Malignant neoplasm of prostate2CTD_human
TgeneC0001122Acidosis1CTD_human
TgeneC0002895Anemia, Sickle Cell1CTD_human
TgeneC0005398Cholestasis, Extrahepatic1CTD_human
TgeneC0007114Malignant neoplasm of skin1CTD_human
TgeneC0007137Squamous cell carcinoma1CTD_human
TgeneC0007166Low Cardiac Output1CTD_human
TgeneC0008312Primary biliary cirrhosis1CTD_human
TgeneC0008370Cholestasis1CTD_human
TgeneC0011881Diabetic Nephropathy1CTD_human
TgeneC0013221Drug toxicity1CTD_human
TgeneC0013990Pathological accumulation of air in tissues1CTD_human
TgeneC0014072Experimental Autoimmune Encephalomyelitis1CTD_human
TgeneC0014170Endometrial Neoplasms1CTD_human
TgeneC0015695Fatty Liver1CTD_human
TgeneC0017178Gastrointestinal Diseases1CTD_human
TgeneC0017667Nodular glomerulosclerosis1CTD_human
TgeneC0018801Heart failure1CTD_human
TgeneC0018802Congestive heart failure1CTD_human
TgeneC0019209Hepatomegaly1CTD_human
TgeneC0020456Hyperglycemia1CTD_human
TgeneC0020507Hyperplasia1CTD_human
TgeneC0022593Keratosis1CTD_human
TgeneC0022594Keratosis Blennorrhagica1CTD_human
TgeneC0022658Kidney Diseases1CTD_human
TgeneC0022660Kidney Failure, Acute1CTD_human
TgeneC0023212Left-Sided Heart Failure1CTD_human
TgeneC0023890Liver Cirrhosis1CTD_human
TgeneC0023892Biliary cirrhosis1CTD_human
TgeneC0023893Liver Cirrhosis, Experimental1CTD_human
TgeneC0023903Liver neoplasms1CTD_human
TgeneC0027540Necrosis1CTD_human
TgeneC0034069Pulmonary Fibrosis1CTD_human
TgeneC0037286Skin Neoplasms1CTD_human
TgeneC0038002Splenomegaly1CTD_human
TgeneC0041755Adverse reaction to drug1CTD_human
TgeneC0042900Vitiligo1CTD_human
TgeneC0085215Ovarian Failure, Premature1CTD_human
TgeneC0086367Gonadotropin-Resistant Ovary Syndrome1CTD_human
TgeneC0086501Keratoma1CTD_human
TgeneC0149504Encephalopathy, Toxic1CTD_human
TgeneC0154659Toxic Encephalitis1CTD_human
TgeneC0162820Dermatitis, Allergic Contact1CTD_human
TgeneC0220981Metabolic acidosis1CTD_human
TgeneC0235032Neurotoxicity Syndromes1CTD_human
TgeneC0235527Heart Failure, Right-Sided1CTD_human
TgeneC0238065Secondary Biliary Cholangitis1CTD_human
TgeneC0239946Fibrosis, Liver1CTD_human
TgeneC0242488Acute Lung Injury1CTD_human
TgeneC0242698Ventricular Dysfunction, Left1CTD_human
TgeneC0279626Squamous cell carcinoma of esophagus1CTD_human
TgeneC0333704Chromosome Breaks1CTD_human
TgeneC0345904Malignant neoplasm of liver1CTD_human
TgeneC0376628Chromosome Breakage1CTD_human
TgeneC0400966Non-alcoholic Fatty Liver Disease1CTD_human
TgeneC0476089Endometrial Carcinoma1CTD_human
TgeneC0559031Functional Gastrointestinal Disorders1CTD_human
TgeneC0596263Carcinogenesis1CTD_human
TgeneC0600177Low Cardiac Output Syndrome1CTD_human
TgeneC0600519Ventricular Remodeling1CTD_human
TgeneC0600520Left Ventricle Remodeling1CTD_human
TgeneC0887833Carcinoma, Pancreatic Ductal1CTD_human
TgeneC1306571Hepatic Insufficiency1CTD_human
TgeneC1449861Micronuclei, Chromosome-Defective1CTD_human
TgeneC1449862Micronuclei, Genotoxicant-Induced1CTD_human
TgeneC1565321Cholera Infantum1CTD_human
TgeneC1565662Acute Kidney Insufficiency1CTD_human
TgeneC1855520Hyperglycemia, Postprandial1CTD_human
TgeneC1959583Myocardial Failure1CTD_human
TgeneC1961112Heart Decompensation1CTD_human
TgeneC2239176Liver carcinoma1CTD_human
TgeneC2609414Acute kidney injury1CTD_human
TgeneC2711227Steatohepatitis1CTD_human
TgeneC2718076Fetal Mummification1CTD_human
TgeneC3241937Nonalcoholic Steatohepatitis1CTD_human
TgeneC3494522Hypergonadotropic Ovarian Failure, X-Linked1CTD_human
TgeneC4540293IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA1UNIPROT
TgeneC4551595Biliary Cirrhosis, Primary, 11CTD_human
TgeneC4552079Premature Ovarian Failure 11CTD_human
TgeneC4721507Alveolitis, Fibrosing1CTD_human