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:NFE2L2-HNRNPD (FusionGDB2 ID:58840)

Fusion Gene Summary for NFE2L2-HNRNPD

check button Fusion gene summary
Fusion gene informationFusion gene name: NFE2L2-HNRNPD
Fusion gene ID: 58840
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

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

Q16236

O14979

Ensembl transtripts involved in fusion geneENST00000397062, ENST00000397063, 
ENST00000423513, ENST00000446151, 
ENST00000464747, 		ENST00000313899, 
ENST00000352301, ENST00000353341, 
ENST00000543098, ENST00000508119, 
ENST00000541060, 
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 buttonFusion gene breakpoints across NFE2L2 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across HNRNPD (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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

+


Top

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

Top

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)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

Top

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
NFE2L2

Q16236

HNRNPD

O14979

FUNCTION: Transcription factor that plays a key role in the response to oxidative stress: binds to antioxidant response (ARE) elements present in the promoter region of many cytoprotective genes, such as phase 2 detoxifying enzymes, and promotes their expression, thereby neutralizing reactive electrophiles (PubMed:11035812, PubMed:19489739, PubMed:29018201, PubMed:31398338). In normal conditions, ubiquitinated and degraded in the cytoplasm by the BCR(KEAP1) complex (PubMed:11035812, PubMed:15601839, PubMed:29018201). In response to oxidative stress, electrophile metabolites inhibit activity of the BCR(KEAP1) complex, promoting nuclear accumulation of NFE2L2/NRF2, heterodimerization with one of the small Maf proteins and binding to ARE elements of cytoprotective target genes (PubMed:19489739, PubMed:29590092). The NFE2L2/NRF2 pathway is also activated in response to selective autophagy: autophagy promotes interaction between KEAP1 and SQSTM1/p62 and subsequent inactivation of the BCR(KEAP1) complex, leading to NFE2L2/NRF2 nuclear accumulation and expression of cytoprotective genes (PubMed:20452972). May also be involved in the transcriptional activation of genes of the beta-globin cluster by mediating enhancer activity of hypersensitive site 2 of the beta-globin locus control region (PubMed:7937919). {ECO:0000269|PubMed:11035812, ECO:0000269|PubMed:15601839, ECO:0000269|PubMed:19489739, ECO:0000269|PubMed:20452972, ECO:0000269|PubMed:29018201, ECO:0000269|PubMed:29590092, ECO:0000269|PubMed:31398338, ECO:0000269|PubMed:7937919}.FUNCTION: Acts as a transcriptional regulator. Promotes transcription repression. Promotes transcription activation in differentiated myotubes (By similarity). Binds to double- and single-stranded DNA sequences. Binds to the transcription suppressor CATR sequence of the COX5B promoter (By similarity). Binds with high affinity to RNA molecules that contain AU-rich elements (AREs) found within the 3'-UTR of many proto-oncogenes and cytokine mRNAs. Binds both to nuclear and cytoplasmic poly(A) mRNAs. Binds to poly(G) and poly(A), but not to poly(U) or poly(C) RNA homopolymers. Binds to the 5'-ACUAGC-3' RNA consensus sequence. {ECO:0000250, ECO:0000269|PubMed:9538234}.

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 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.

Top

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


Top

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

Top

Related Diseases for NFE2L2-HNRNPD


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