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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:NFE2L2-HNRNPD (FusionGDB2 ID:HG4780TG3184)

Fusion Gene Summary for NFE2L2-HNRNPD

check button Fusion gene summary
Fusion gene informationFusion gene name: NFE2L2-HNRNPD
Fusion gene ID: hg4780tg3184
HgeneTgene
Gene symbol

NFE2L2

HNRNPD

Gene ID

4780

3184

Gene namenuclear factor, erythroid 2 like 2heterogeneous nuclear ribonucleoprotein D
SynonymsHEBP1|IMDDHH|NRF2|Nrf-2AUF1|AUF1A|HNRPD|P37|hnRNPD0
Cytomap('NFE2L2')('HNRNPD')

2q31.2

4q21.22

Type of geneprotein-codingprotein-coding
Descriptionnuclear factor erythroid 2-related factor 2nuclear factor erythroid-derived 2-like 2heterogeneous nuclear ribonucleoprotein D0ARE-binding protein AUFI, type AAU-rich element RNA binding protein 1, 37kDahnRNP D0
Modification date2020032920200329
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000397062, ENST00000397063, 
ENST00000423513, ENST00000446151, 
ENST00000464747, 
Fusion gene scores* DoF score18 X 18 X 9=291619 X 13 X 8=1976
# samples 2919
** MAII scorelog2(29/2916*10)=-3.329865914312
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(19/1976*10)=-3.37851162325373
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

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

Most frequent breakpointNFE2L2(178096309)-HNRNPD(83275272), # 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
HgeneNFE2L2

GO:0010499

proteasomal ubiquitin-independent protein catabolic process

19424503

HgeneNFE2L2

GO:0016567

protein ubiquitination

15983046

HgeneNFE2L2

GO:0043161

proteasome-mediated ubiquitin-dependent protein catabolic process

15983046

HgeneNFE2L2

GO:0045944

positive regulation of transcription by RNA polymerase II

17015834

HgeneNFE2L2

GO:0071498

cellular response to fluid shear stress

25190803



check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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
ChiTaRS5.0N/ABF096106NFE2L2chr2

178096309

-HNRNPDchr4

83275272

+


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Fusion Gene ORF analysis for NFE2L2-HNRNPD

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-3UTRENST00000397062ENST00000313899NFE2L2chr2

178096309

-HNRNPDchr4

83275272

+
intron-3UTRENST00000397062ENST00000352301NFE2L2chr2

178096309

-HNRNPDchr4

83275272

+
intron-3UTRENST00000397062ENST00000353341NFE2L2chr2

178096309

-HNRNPDchr4

83275272

+
intron-3UTRENST00000397062ENST00000543098NFE2L2chr2

178096309

-HNRNPDchr4

83275272

+
intron-3UTRENST00000397063ENST00000313899NFE2L2chr2

178096309

-HNRNPDchr4

83275272

+
intron-3UTRENST00000397063ENST00000352301NFE2L2chr2

178096309

-HNRNPDchr4

83275272

+
intron-3UTRENST00000397063ENST00000353341NFE2L2chr2

178096309

-HNRNPDchr4

83275272

+
intron-3UTRENST00000397063ENST00000543098NFE2L2chr2

178096309

-HNRNPDchr4

83275272

+
intron-3UTRENST00000423513ENST00000313899NFE2L2chr2

178096309

-HNRNPDchr4

83275272

+
intron-3UTRENST00000423513ENST00000352301NFE2L2chr2

178096309

-HNRNPDchr4

83275272

+
intron-3UTRENST00000423513ENST00000353341NFE2L2chr2

178096309

-HNRNPDchr4

83275272

+
intron-3UTRENST00000423513ENST00000543098NFE2L2chr2

178096309

-HNRNPDchr4

83275272

+
intron-3UTRENST00000446151ENST00000313899NFE2L2chr2

178096309

-HNRNPDchr4

83275272

+
intron-3UTRENST00000446151ENST00000352301NFE2L2chr2

178096309

-HNRNPDchr4

83275272

+
intron-3UTRENST00000446151ENST00000353341NFE2L2chr2

178096309

-HNRNPDchr4

83275272

+
intron-3UTRENST00000446151ENST00000543098NFE2L2chr2

178096309

-HNRNPDchr4

83275272

+
intron-3UTRENST00000464747ENST00000313899NFE2L2chr2

178096309

-HNRNPDchr4

83275272

+
intron-3UTRENST00000464747ENST00000352301NFE2L2chr2

178096309

-HNRNPDchr4

83275272

+
intron-3UTRENST00000464747ENST00000353341NFE2L2chr2

178096309

-HNRNPDchr4

83275272

+
intron-3UTRENST00000464747ENST00000543098NFE2L2chr2

178096309

-HNRNPDchr4

83275272

+
intron-intronENST00000397062ENST00000508119NFE2L2chr2

178096309

-HNRNPDchr4

83275272

+
intron-intronENST00000397062ENST00000541060NFE2L2chr2

178096309

-HNRNPDchr4

83275272

+
intron-intronENST00000397063ENST00000508119NFE2L2chr2

178096309

-HNRNPDchr4

83275272

+
intron-intronENST00000397063ENST00000541060NFE2L2chr2

178096309

-HNRNPDchr4

83275272

+
intron-intronENST00000423513ENST00000508119NFE2L2chr2

178096309

-HNRNPDchr4

83275272

+
intron-intronENST00000423513ENST00000541060NFE2L2chr2

178096309

-HNRNPDchr4

83275272

+
intron-intronENST00000446151ENST00000508119NFE2L2chr2

178096309

-HNRNPDchr4

83275272

+
intron-intronENST00000446151ENST00000541060NFE2L2chr2

178096309

-HNRNPDchr4

83275272

+
intron-intronENST00000464747ENST00000508119NFE2L2chr2

178096309

-HNRNPDchr4

83275272

+
intron-intronENST00000464747ENST00000541060NFE2L2chr2

178096309

-HNRNPDchr4

83275272

+

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

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Fusion Genomic Features for NFE2L2-HNRNPD


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)


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Fusion Protein Features for NFE2L2-HNRNPD


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/:178096309/:83275272)
- 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
..
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}.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


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Fusion Gene Sequence for NFE2L2-HNRNPD


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.

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Fusion Gene PPI Analysis for NFE2L2-HNRNPD


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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Related Drugs for NFE2L2-HNRNPD


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for NFE2L2-HNRNPD


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneNFE2L2C0019193Hepatitis, Toxic5CTD_human
HgeneNFE2L2C0860207Drug-Induced Liver Disease5CTD_human
HgeneNFE2L2C1262760Hepatitis, Drug-Induced5CTD_human
HgeneNFE2L2C3658290Drug-Induced Acute Liver Injury5CTD_human
HgeneNFE2L2C4277682Chemical and Drug Induced Liver Injury5CTD_human
HgeneNFE2L2C4279912Chemically-Induced Liver Toxicity5CTD_human
HgeneNFE2L2C0007131Non-Small Cell Lung Carcinoma2CGI;CTD_human
HgeneNFE2L2C0033578Prostatic Neoplasms2CTD_human
HgeneNFE2L2C0376358Malignant neoplasm of prostate2CTD_human
HgeneNFE2L2C0001122Acidosis1CTD_human
HgeneNFE2L2C0002895Anemia, Sickle Cell1CTD_human
HgeneNFE2L2C0005398Cholestasis, Extrahepatic1CTD_human
HgeneNFE2L2C0007114Malignant neoplasm of skin1CTD_human
HgeneNFE2L2C0007137Squamous cell carcinoma1CTD_human
HgeneNFE2L2C0007166Low Cardiac Output1CTD_human
HgeneNFE2L2C0008312Primary biliary cirrhosis1CTD_human
HgeneNFE2L2C0008370Cholestasis1CTD_human
HgeneNFE2L2C0011881Diabetic Nephropathy1CTD_human
HgeneNFE2L2C0013221Drug toxicity1CTD_human
HgeneNFE2L2C0013990Pathological accumulation of air in tissues1CTD_human
HgeneNFE2L2C0014072Experimental Autoimmune Encephalomyelitis1CTD_human
HgeneNFE2L2C0014170Endometrial Neoplasms1CTD_human
HgeneNFE2L2C0015695Fatty Liver1CTD_human
HgeneNFE2L2C0017178Gastrointestinal Diseases1CTD_human
HgeneNFE2L2C0017667Nodular glomerulosclerosis1CTD_human
HgeneNFE2L2C0018801Heart failure1CTD_human
HgeneNFE2L2C0018802Congestive heart failure1CTD_human
HgeneNFE2L2C0019209Hepatomegaly1CTD_human
HgeneNFE2L2C0020456Hyperglycemia1CTD_human
HgeneNFE2L2C0020507Hyperplasia1CTD_human
HgeneNFE2L2C0022593Keratosis1CTD_human
HgeneNFE2L2C0022594Keratosis Blennorrhagica1CTD_human
HgeneNFE2L2C0022658Kidney Diseases1CTD_human
HgeneNFE2L2C0022660Kidney Failure, Acute1CTD_human
HgeneNFE2L2C0023212Left-Sided Heart Failure1CTD_human
HgeneNFE2L2C0023890Liver Cirrhosis1CTD_human
HgeneNFE2L2C0023892Biliary cirrhosis1CTD_human
HgeneNFE2L2C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneNFE2L2C0023903Liver neoplasms1CTD_human
HgeneNFE2L2C0027540Necrosis1CTD_human
HgeneNFE2L2C0034069Pulmonary Fibrosis1CTD_human
HgeneNFE2L2C0037286Skin Neoplasms1CTD_human
HgeneNFE2L2C0038002Splenomegaly1CTD_human
HgeneNFE2L2C0041755Adverse reaction to drug1CTD_human
HgeneNFE2L2C0042900Vitiligo1CTD_human
HgeneNFE2L2C0085215Ovarian Failure, Premature1CTD_human
HgeneNFE2L2C0086367Gonadotropin-Resistant Ovary Syndrome1CTD_human
HgeneNFE2L2C0086501Keratoma1CTD_human
HgeneNFE2L2C0149504Encephalopathy, Toxic1CTD_human
HgeneNFE2L2C0154659Toxic Encephalitis1CTD_human
HgeneNFE2L2C0162820Dermatitis, Allergic Contact1CTD_human
HgeneNFE2L2C0220981Metabolic acidosis1CTD_human
HgeneNFE2L2C0235032Neurotoxicity Syndromes1CTD_human
HgeneNFE2L2C0235527Heart Failure, Right-Sided1CTD_human
HgeneNFE2L2C0238065Secondary Biliary Cholangitis1CTD_human
HgeneNFE2L2C0239946Fibrosis, Liver1CTD_human
HgeneNFE2L2C0242488Acute Lung Injury1CTD_human
HgeneNFE2L2C0242698Ventricular Dysfunction, Left1CTD_human
HgeneNFE2L2C0279626Squamous cell carcinoma of esophagus1CTD_human
HgeneNFE2L2C0333704Chromosome Breaks1CTD_human
HgeneNFE2L2C0345904Malignant neoplasm of liver1CTD_human
HgeneNFE2L2C0376628Chromosome Breakage1CTD_human
HgeneNFE2L2C0400966Non-alcoholic Fatty Liver Disease1CTD_human
HgeneNFE2L2C0476089Endometrial Carcinoma1CTD_human
HgeneNFE2L2C0559031Functional Gastrointestinal Disorders1CTD_human
HgeneNFE2L2C0596263Carcinogenesis1CTD_human
HgeneNFE2L2C0600177Low Cardiac Output Syndrome1CTD_human
HgeneNFE2L2C0600519Ventricular Remodeling1CTD_human
HgeneNFE2L2C0600520Left Ventricle Remodeling1CTD_human
HgeneNFE2L2C0887833Carcinoma, Pancreatic Ductal1CTD_human
HgeneNFE2L2C1306571Hepatic Insufficiency1CTD_human
HgeneNFE2L2C1449861Micronuclei, Chromosome-Defective1CTD_human
HgeneNFE2L2C1449862Micronuclei, Genotoxicant-Induced1CTD_human
HgeneNFE2L2C1565321Cholera Infantum1CTD_human
HgeneNFE2L2C1565662Acute Kidney Insufficiency1CTD_human
HgeneNFE2L2C1855520Hyperglycemia, Postprandial1CTD_human
HgeneNFE2L2C1959583Myocardial Failure1CTD_human
HgeneNFE2L2C1961112Heart Decompensation1CTD_human
HgeneNFE2L2C2239176Liver carcinoma1CTD_human
HgeneNFE2L2C2609414Acute kidney injury1CTD_human
HgeneNFE2L2C2711227Steatohepatitis1CTD_human
HgeneNFE2L2C2718076Fetal Mummification1CTD_human
HgeneNFE2L2C3241937Nonalcoholic Steatohepatitis1CTD_human
HgeneNFE2L2C3494522Hypergonadotropic Ovarian Failure, X-Linked1CTD_human
HgeneNFE2L2C4540293IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA1UNIPROT
HgeneNFE2L2C4551595Biliary Cirrhosis, Primary, 11CTD_human
HgeneNFE2L2C4552079Premature Ovarian Failure 11CTD_human
HgeneNFE2L2C4721507Alveolitis, Fibrosing1CTD_human