UTHEALTH HOME    ABOUT SBMI    A-Z    WEBMAIL    INSIDE THE UNIVERSITY
FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Terms of Use
Center for Computational Systems Medicine level1
leaf

Fusion Gene Summary

leaf

Fusion Gene Sample Information

leaf

Fusion ORF Analysis

leaf

Fusion Amino Acid Sequences

leaf

Fusion Protein Functional Features

leaf

Fusion Protein-Protein Interaction

leaf

Related drugs with this fusion protein

leaf

Related disease with this fusion protein

Fusion Protein:NFE2L1-ENG

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: NFE2L1-ENG
FusionPDB ID: 58820
FusionGDB2.0 ID: 58820
HgeneTgene
Gene symbol

NFE2L1

ENG

Gene ID

4779

2022

Gene namenuclear factor, erythroid 2 like 1endoglin
SynonymsLCR-F1|NRF1|TCF11END|HHT1|ORW1
Cytomap

17q21.32

9q34.11

Type of geneprotein-codingprotein-coding
Descriptionendoplasmic reticulum membrane sensor NFE2L1NF-E2-related factor 1NFE2-related factor 1TCF-11locus control region-factor 1nuclear factor erythroid 2-related factor 1nuclear factor, erythroid derived 2, like 1protein NRF1, p120 formtranscription faendoglinCD105 antigen
Modification date2020031320200329
UniProtAcc

Q14494

Q8NFI3

Ensembl transtripts involved in fusion geneENST idsENST00000357480, ENST00000361665, 
ENST00000362042, ENST00000536222, 
ENST00000582155, ENST00000583378, 
ENST00000585291, ENST00000579481, 
ENST00000480266, ENST00000344849, 
ENST00000373203, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score18 X 12 X 13=28086 X 7 X 4=168
# samples 206
** MAII scorelog2(20/2808*10)=-3.81147103052984
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/168*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: NFE2L1 [Title/Abstract] AND ENG [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)NFE2L1(46134864)-ENG(130582316), # samples:2
Anticipated loss of major functional domain due to fusion event.NFE2L1-ENG seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
NFE2L1-ENG seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
NFE2L1-ENG seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
NFE2L1-ENG seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame 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
TgeneENG

GO:0001934

positive regulation of protein phosphorylation

12015308

TgeneENG

GO:0010862

positive regulation of pathway-restricted SMAD protein phosphorylation

12015308

TgeneENG

GO:0017015

regulation of transforming growth factor beta receptor signaling pathway

15702480

TgeneENG

GO:0030336

negative regulation of cell migration

19736306

TgeneENG

GO:0030513

positive regulation of BMP signaling pathway

17068149

TgeneENG

GO:0031953

negative regulation of protein autophosphorylation

12015308


check buttonFusion gene breakpoints across NFE2L1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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


Top

Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
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
ChimerDB4BRCATCGA-AC-A2FF-01ANFE2L1chr17

46134864

+ENGchr9

130582316

-


Top

Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)
ENST00000362042NFE2L1chr1746134864+ENST00000373203ENGchr9130582316-310115886162430604
ENST00000362042NFE2L1chr1746134864+ENST00000344849ENGchr9130582316-323215886162331571
ENST00000585291NFE2L1chr1746134864+ENST00000373203ENGchr9130582316-271011972912039582
ENST00000585291NFE2L1chr1746134864+ENST00000344849ENGchr9130582316-284111972911940549
ENST00000357480NFE2L1chr1746134864+ENST00000373203ENGchr9130582316-300014876052329574
ENST00000357480NFE2L1chr1746134864+ENST00000344849ENGchr9130582316-313114876052230541
ENST00000361665NFE2L1chr1746134864+ENST00000373203ENGchr9130582316-305615436042385593
ENST00000361665NFE2L1chr1746134864+ENST00000344849ENGchr9130582316-318715436042286560
ENST00000582155NFE2L1chr1746134864+ENST00000373203ENGchr9130582316-1972459511301416
ENST00000582155NFE2L1chr1746134864+ENST00000344849ENGchr9130582316-2103459511202383
ENST00000583378NFE2L1chr1746134864+ENST00000373203ENGchr9130582316-1922409341251405
ENST00000583378NFE2L1chr1746134864+ENST00000344849ENGchr9130582316-2053409341152372
ENST00000536222NFE2L1chr1746134864+ENST00000373203ENGchr9130582316-23268132611655464
ENST00000536222NFE2L1chr1746134864+ENST00000344849ENGchr9130582316-24578132611556431

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
ENST00000362042ENST00000373203NFE2L1chr1746134864+ENGchr9130582316-0.0053127590.9946872
ENST00000362042ENST00000344849NFE2L1chr1746134864+ENGchr9130582316-0.0049299140.9950701
ENST00000585291ENST00000373203NFE2L1chr1746134864+ENGchr9130582316-0.0100687330.9899312
ENST00000585291ENST00000344849NFE2L1chr1746134864+ENGchr9130582316-0.0084138450.9915862
ENST00000357480ENST00000373203NFE2L1chr1746134864+ENGchr9130582316-0.0052566720.99474335
ENST00000357480ENST00000344849NFE2L1chr1746134864+ENGchr9130582316-0.0048567030.9951433
ENST00000361665ENST00000373203NFE2L1chr1746134864+ENGchr9130582316-0.0048994060.99510056
ENST00000361665ENST00000344849NFE2L1chr1746134864+ENGchr9130582316-0.0042816920.9957183
ENST00000582155ENST00000373203NFE2L1chr1746134864+ENGchr9130582316-0.0428530.95714706
ENST00000582155ENST00000344849NFE2L1chr1746134864+ENGchr9130582316-0.0309307760.9690692
ENST00000583378ENST00000373203NFE2L1chr1746134864+ENGchr9130582316-0.0689653460.9310346
ENST00000583378ENST00000344849NFE2L1chr1746134864+ENGchr9130582316-0.0483890550.9516109
ENST00000536222ENST00000373203NFE2L1chr1746134864+ENGchr9130582316-0.107078140.89292186
ENST00000536222ENST00000344849NFE2L1chr1746134864+ENGchr9130582316-0.085526970.914473

Top

Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>58820_58820_1_NFE2L1-ENG_NFE2L1_chr17_46134864_ENST00000357480_ENG_chr9_130582316_ENST00000344849_length(amino acids)=541AA_BP=293
MLSLKKYLTEGLLQFTILLSLIGVRVDVDTYLTSQLPPLREIILGPSSAYTQTQFHNLRNTLDGYGIHPKSIDLDNYFTARRLLSQVRAL
DRFQVPTTEVNAWLVHRDPEGSVSGSQPNSGLALESSSGLQDVTGPDNGVRESETEQGFGEDLEDLGAVAPPVSGDLTKEDIDLIDILWR
QDIDLGAGREVFDYSHRQKEQDVEKELRDGGEQDTWAGEGAEALARNLLVDGETGESFPAQFPADISSITEAVPSESEPPALQNNLLSPL
LTGTESPFDLEQQWQDLMSIMEMQHLKCTITGLTFWDPSCEAEDRGDKFVLRSAYSSCGMQVSASMISNEAVVNILSSSSPQRKKVHCLN
MDSLSFQLGLYLSPHFLQASNTIEPGQQSFVQVRVSPSVSEFLLQLDSCHLDLGPEGGTVELIQGRAAKGNCVSLLSPSPEGDPRFSFLL
HFYTVPIPKTGTLSCTVALRPKTGSQDQEVHRTVFMRLNIISPDLSGCTSKGLVLPAVLGITFGAFLIGALLTAALWYIYSHTREYPRPP

--------------------------------------------------------------

>58820_58820_2_NFE2L1-ENG_NFE2L1_chr17_46134864_ENST00000357480_ENG_chr9_130582316_ENST00000373203_length(amino acids)=574AA_BP=293
MLSLKKYLTEGLLQFTILLSLIGVRVDVDTYLTSQLPPLREIILGPSSAYTQTQFHNLRNTLDGYGIHPKSIDLDNYFTARRLLSQVRAL
DRFQVPTTEVNAWLVHRDPEGSVSGSQPNSGLALESSSGLQDVTGPDNGVRESETEQGFGEDLEDLGAVAPPVSGDLTKEDIDLIDILWR
QDIDLGAGREVFDYSHRQKEQDVEKELRDGGEQDTWAGEGAEALARNLLVDGETGESFPAQFPADISSITEAVPSESEPPALQNNLLSPL
LTGTESPFDLEQQWQDLMSIMEMQHLKCTITGLTFWDPSCEAEDRGDKFVLRSAYSSCGMQVSASMISNEAVVNILSSSSPQRKKVHCLN
MDSLSFQLGLYLSPHFLQASNTIEPGQQSFVQVRVSPSVSEFLLQLDSCHLDLGPEGGTVELIQGRAAKGNCVSLLSPSPEGDPRFSFLL
HFYTVPIPKTGTLSCTVALRPKTGSQDQEVHRTVFMRLNIISPDLSGCTSKGLVLPAVLGITFGAFLIGALLTAALWYIYSHTRSPSKRE

--------------------------------------------------------------

>58820_58820_3_NFE2L1-ENG_NFE2L1_chr17_46134864_ENST00000361665_ENG_chr9_130582316_ENST00000344849_length(amino acids)=560AA_BP=312
MLSLKKYLTEGLLQFTILLSLIGVRVDVDTYLTSQLPPLREIILGPSSAYTQTQFHNLRNTLDGYGIHPKSIDLDNYFTARRLLSQVRAL
DRFQVPTTEVNAWLVHRDPEGSVSGSQPNSGLALESSSGLQDVTGPDNGVRESETEQGFGEDLEDLGAVAPPVSGDLTKEDIDLGAGREV
FDYSHRQKEQDVEKELRDGGEQDTWAGEGAEALARNLLVDGETGESFPAQVPSGEDQTALSLEECLRLLEATCPFGENAEFPADISSITE
AVPSESEPPALQNNLLSPLLTGTESPFDLEQQWQDLMSIMEMQHLKCTITGLTFWDPSCEAEDRGDKFVLRSAYSSCGMQVSASMISNEA
VVNILSSSSPQRKKVHCLNMDSLSFQLGLYLSPHFLQASNTIEPGQQSFVQVRVSPSVSEFLLQLDSCHLDLGPEGGTVELIQGRAAKGN
CVSLLSPSPEGDPRFSFLLHFYTVPIPKTGTLSCTVALRPKTGSQDQEVHRTVFMRLNIISPDLSGCTSKGLVLPAVLGITFGAFLIGAL

--------------------------------------------------------------

>58820_58820_4_NFE2L1-ENG_NFE2L1_chr17_46134864_ENST00000361665_ENG_chr9_130582316_ENST00000373203_length(amino acids)=593AA_BP=312
MLSLKKYLTEGLLQFTILLSLIGVRVDVDTYLTSQLPPLREIILGPSSAYTQTQFHNLRNTLDGYGIHPKSIDLDNYFTARRLLSQVRAL
DRFQVPTTEVNAWLVHRDPEGSVSGSQPNSGLALESSSGLQDVTGPDNGVRESETEQGFGEDLEDLGAVAPPVSGDLTKEDIDLGAGREV
FDYSHRQKEQDVEKELRDGGEQDTWAGEGAEALARNLLVDGETGESFPAQVPSGEDQTALSLEECLRLLEATCPFGENAEFPADISSITE
AVPSESEPPALQNNLLSPLLTGTESPFDLEQQWQDLMSIMEMQHLKCTITGLTFWDPSCEAEDRGDKFVLRSAYSSCGMQVSASMISNEA
VVNILSSSSPQRKKVHCLNMDSLSFQLGLYLSPHFLQASNTIEPGQQSFVQVRVSPSVSEFLLQLDSCHLDLGPEGGTVELIQGRAAKGN
CVSLLSPSPEGDPRFSFLLHFYTVPIPKTGTLSCTVALRPKTGSQDQEVHRTVFMRLNIISPDLSGCTSKGLVLPAVLGITFGAFLIGAL

--------------------------------------------------------------

>58820_58820_5_NFE2L1-ENG_NFE2L1_chr17_46134864_ENST00000362042_ENG_chr9_130582316_ENST00000344849_length(amino acids)=571AA_BP=323
MLSLKKYLTEGLLQFTILLSLIGVRVDVDTYLTSQLPPLREIILGPSSAYTQTQFHNLRNTLDGYGIHPKSIDLDNYFTARRLLSQVRAL
DRFQVPTTEVNAWLVHRDPEGSVSGSQPNSGLALESSSGLQDVTGPDNGVRESETEQGFGEDLEDLGAVAPPVSGDLTKEDIDLIDILWR
QDIDLGAGREVFDYSHRQKEQDVEKELRDGGEQDTWAGEGAEALARNLLVDGETGESFPAQVPSGEDQTALSLEECLRLLEATCPFGENA
EFPADISSITEAVPSESEPPALQNNLLSPLLTGTESPFDLEQQWQDLMSIMEMQHLKCTITGLTFWDPSCEAEDRGDKFVLRSAYSSCGM
QVSASMISNEAVVNILSSSSPQRKKVHCLNMDSLSFQLGLYLSPHFLQASNTIEPGQQSFVQVRVSPSVSEFLLQLDSCHLDLGPEGGTV
ELIQGRAAKGNCVSLLSPSPEGDPRFSFLLHFYTVPIPKTGTLSCTVALRPKTGSQDQEVHRTVFMRLNIISPDLSGCTSKGLVLPAVLG

--------------------------------------------------------------

>58820_58820_6_NFE2L1-ENG_NFE2L1_chr17_46134864_ENST00000362042_ENG_chr9_130582316_ENST00000373203_length(amino acids)=604AA_BP=323
MLSLKKYLTEGLLQFTILLSLIGVRVDVDTYLTSQLPPLREIILGPSSAYTQTQFHNLRNTLDGYGIHPKSIDLDNYFTARRLLSQVRAL
DRFQVPTTEVNAWLVHRDPEGSVSGSQPNSGLALESSSGLQDVTGPDNGVRESETEQGFGEDLEDLGAVAPPVSGDLTKEDIDLIDILWR
QDIDLGAGREVFDYSHRQKEQDVEKELRDGGEQDTWAGEGAEALARNLLVDGETGESFPAQVPSGEDQTALSLEECLRLLEATCPFGENA
EFPADISSITEAVPSESEPPALQNNLLSPLLTGTESPFDLEQQWQDLMSIMEMQHLKCTITGLTFWDPSCEAEDRGDKFVLRSAYSSCGM
QVSASMISNEAVVNILSSSSPQRKKVHCLNMDSLSFQLGLYLSPHFLQASNTIEPGQQSFVQVRVSPSVSEFLLQLDSCHLDLGPEGGTV
ELIQGRAAKGNCVSLLSPSPEGDPRFSFLLHFYTVPIPKTGTLSCTVALRPKTGSQDQEVHRTVFMRLNIISPDLSGCTSKGLVLPAVLG

--------------------------------------------------------------

>58820_58820_7_NFE2L1-ENG_NFE2L1_chr17_46134864_ENST00000536222_ENG_chr9_130582316_ENST00000344849_length(amino acids)=431AA_BP=183
MSGFPAPAALGLISQTMTRLDRSSHSGGGHAKGSRPLNSLLAGHRVAQPASAPGSRASVQDIDLIDILWRQDIDLGAGREVFDYSHRQKE
QDVEKELRDGGEQDTWAGEGAEALARNLLVDGETGESFPAQFPADISSITEAVPSESEPPALQNNLLSPLLTGTESPFDLEQQWQDLMSI
MEMQHLKCTITGLTFWDPSCEAEDRGDKFVLRSAYSSCGMQVSASMISNEAVVNILSSSSPQRKKVHCLNMDSLSFQLGLYLSPHFLQAS
NTIEPGQQSFVQVRVSPSVSEFLLQLDSCHLDLGPEGGTVELIQGRAAKGNCVSLLSPSPEGDPRFSFLLHFYTVPIPKTGTLSCTVALR

--------------------------------------------------------------

>58820_58820_8_NFE2L1-ENG_NFE2L1_chr17_46134864_ENST00000536222_ENG_chr9_130582316_ENST00000373203_length(amino acids)=464AA_BP=183
MSGFPAPAALGLISQTMTRLDRSSHSGGGHAKGSRPLNSLLAGHRVAQPASAPGSRASVQDIDLIDILWRQDIDLGAGREVFDYSHRQKE
QDVEKELRDGGEQDTWAGEGAEALARNLLVDGETGESFPAQFPADISSITEAVPSESEPPALQNNLLSPLLTGTESPFDLEQQWQDLMSI
MEMQHLKCTITGLTFWDPSCEAEDRGDKFVLRSAYSSCGMQVSASMISNEAVVNILSSSSPQRKKVHCLNMDSLSFQLGLYLSPHFLQAS
NTIEPGQQSFVQVRVSPSVSEFLLQLDSCHLDLGPEGGTVELIQGRAAKGNCVSLLSPSPEGDPRFSFLLHFYTVPIPKTGTLSCTVALR
PKTGSQDQEVHRTVFMRLNIISPDLSGCTSKGLVLPAVLGITFGAFLIGALLTAALWYIYSHTRSPSKREPVVAVAAPASSESSSTNHSI

--------------------------------------------------------------

>58820_58820_9_NFE2L1-ENG_NFE2L1_chr17_46134864_ENST00000582155_ENG_chr9_130582316_ENST00000344849_length(amino acids)=383AA_BP=135
MGWESHLTAASADIDLIDILWRQDIDLGAGREVFDYSHRQKEQDVEKELRDGGEQDTWAGEGAEALARNLLVDGETGESFPAQFPADISS
ITEAVPSESEPPALQNNLLSPLLTGTESPFDLEQQWQDLMSIMEMQHLKCTITGLTFWDPSCEAEDRGDKFVLRSAYSSCGMQVSASMIS
NEAVVNILSSSSPQRKKVHCLNMDSLSFQLGLYLSPHFLQASNTIEPGQQSFVQVRVSPSVSEFLLQLDSCHLDLGPEGGTVELIQGRAA
KGNCVSLLSPSPEGDPRFSFLLHFYTVPIPKTGTLSCTVALRPKTGSQDQEVHRTVFMRLNIISPDLSGCTSKGLVLPAVLGITFGAFLI

--------------------------------------------------------------

>58820_58820_10_NFE2L1-ENG_NFE2L1_chr17_46134864_ENST00000582155_ENG_chr9_130582316_ENST00000373203_length(amino acids)=416AA_BP=135
MGWESHLTAASADIDLIDILWRQDIDLGAGREVFDYSHRQKEQDVEKELRDGGEQDTWAGEGAEALARNLLVDGETGESFPAQFPADISS
ITEAVPSESEPPALQNNLLSPLLTGTESPFDLEQQWQDLMSIMEMQHLKCTITGLTFWDPSCEAEDRGDKFVLRSAYSSCGMQVSASMIS
NEAVVNILSSSSPQRKKVHCLNMDSLSFQLGLYLSPHFLQASNTIEPGQQSFVQVRVSPSVSEFLLQLDSCHLDLGPEGGTVELIQGRAA
KGNCVSLLSPSPEGDPRFSFLLHFYTVPIPKTGTLSCTVALRPKTGSQDQEVHRTVFMRLNIISPDLSGCTSKGLVLPAVLGITFGAFLI

--------------------------------------------------------------

>58820_58820_11_NFE2L1-ENG_NFE2L1_chr17_46134864_ENST00000583378_ENG_chr9_130582316_ENST00000344849_length(amino acids)=372AA_BP=124
MGWESHLTAASADIDLGAGREVFDYSHRQKEQDVEKELRDGGEQDTWAGEGAEALARNLLVDGETGESFPAQFPADISSITEAVPSESEP
PALQNNLLSPLLTGTESPFDLEQQWQDLMSIMEMQHLKCTITGLTFWDPSCEAEDRGDKFVLRSAYSSCGMQVSASMISNEAVVNILSSS
SPQRKKVHCLNMDSLSFQLGLYLSPHFLQASNTIEPGQQSFVQVRVSPSVSEFLLQLDSCHLDLGPEGGTVELIQGRAAKGNCVSLLSPS
PEGDPRFSFLLHFYTVPIPKTGTLSCTVALRPKTGSQDQEVHRTVFMRLNIISPDLSGCTSKGLVLPAVLGITFGAFLIGALLTAALWYI

--------------------------------------------------------------

>58820_58820_12_NFE2L1-ENG_NFE2L1_chr17_46134864_ENST00000583378_ENG_chr9_130582316_ENST00000373203_length(amino acids)=405AA_BP=124
MGWESHLTAASADIDLGAGREVFDYSHRQKEQDVEKELRDGGEQDTWAGEGAEALARNLLVDGETGESFPAQFPADISSITEAVPSESEP
PALQNNLLSPLLTGTESPFDLEQQWQDLMSIMEMQHLKCTITGLTFWDPSCEAEDRGDKFVLRSAYSSCGMQVSASMISNEAVVNILSSS
SPQRKKVHCLNMDSLSFQLGLYLSPHFLQASNTIEPGQQSFVQVRVSPSVSEFLLQLDSCHLDLGPEGGTVELIQGRAAKGNCVSLLSPS
PEGDPRFSFLLHFYTVPIPKTGTLSCTVALRPKTGSQDQEVHRTVFMRLNIISPDLSGCTSKGLVLPAVLGITFGAFLIGALLTAALWYI

--------------------------------------------------------------

>58820_58820_13_NFE2L1-ENG_NFE2L1_chr17_46134864_ENST00000585291_ENG_chr9_130582316_ENST00000344849_length(amino acids)=549AA_BP=301
MYVDCGETMLSLKKYLTEGLLQFTILLSLIGVRVDVDTYLTSQLPPLREIILGPSSAYTQTQFHNLRNTLDGYGIHPKSIDLDNYFTARR
LLSQVRALDRFQVPTTEVNAWLVHRDPEGSVSGSQPNSGLALESSSGLQDVTGPDNGVRESETEQGFGEDLEDLGAVAPPVSGDLTKEDI
DLIDILWRQDIDLGAGREVFDYSHRQKEQDVEKELRDGGEQDTWAGEGAEALARNLLVDGETGESFPAQFPADISSITEAVPSESEPPAL
QNNLLSPLLTGTESPFDLEQQWQDLMSIMEMQHLKCTITGLTFWDPSCEAEDRGDKFVLRSAYSSCGMQVSASMISNEAVVNILSSSSPQ
RKKVHCLNMDSLSFQLGLYLSPHFLQASNTIEPGQQSFVQVRVSPSVSEFLLQLDSCHLDLGPEGGTVELIQGRAAKGNCVSLLSPSPEG
DPRFSFLLHFYTVPIPKTGTLSCTVALRPKTGSQDQEVHRTVFMRLNIISPDLSGCTSKGLVLPAVLGITFGAFLIGALLTAALWYIYSH

--------------------------------------------------------------

>58820_58820_14_NFE2L1-ENG_NFE2L1_chr17_46134864_ENST00000585291_ENG_chr9_130582316_ENST00000373203_length(amino acids)=582AA_BP=301
MYVDCGETMLSLKKYLTEGLLQFTILLSLIGVRVDVDTYLTSQLPPLREIILGPSSAYTQTQFHNLRNTLDGYGIHPKSIDLDNYFTARR
LLSQVRALDRFQVPTTEVNAWLVHRDPEGSVSGSQPNSGLALESSSGLQDVTGPDNGVRESETEQGFGEDLEDLGAVAPPVSGDLTKEDI
DLIDILWRQDIDLGAGREVFDYSHRQKEQDVEKELRDGGEQDTWAGEGAEALARNLLVDGETGESFPAQFPADISSITEAVPSESEPPAL
QNNLLSPLLTGTESPFDLEQQWQDLMSIMEMQHLKCTITGLTFWDPSCEAEDRGDKFVLRSAYSSCGMQVSASMISNEAVVNILSSSSPQ
RKKVHCLNMDSLSFQLGLYLSPHFLQASNTIEPGQQSFVQVRVSPSVSEFLLQLDSCHLDLGPEGGTVELIQGRAAKGNCVSLLSPSPEG
DPRFSFLLHFYTVPIPKTGTLSCTVALRPKTGSQDQEVHRTVFMRLNIISPDLSGCTSKGLVLPAVLGITFGAFLIGALLTAALWYIYSH

--------------------------------------------------------------

Top

Fusion Protein Functional Features


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/chr17:46134864/chr9:130582316)
- 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
NFE2L1

Q14494

ENG

Q8NFI3

FUNCTION: [Endoplasmic reticulum membrane sensor NFE2L1]: Endoplasmic reticulum membrane sensor that translocates into the nucleus in response to various stresses to act as a transcription factor (PubMed:20932482, PubMed:24448410). Constitutes a precursor of the transcription factor NRF1 (By similarity). Able to detect various cellular stresses, such as cholesterol excess, oxidative stress or proteasome inhibition (PubMed:20932482). In response to stress, it is released from the endoplasmic reticulum membrane following cleavage by the protease DDI2 and translocates into the nucleus to form the transcription factor NRF1 (By similarity). Acts as a key sensor of cholesterol excess: in excess cholesterol conditions, the endoplasmic reticulum membrane form of the protein directly binds cholesterol via its CRAC motif, preventing cleavage and release of the transcription factor NRF1, thereby allowing expression of genes promoting cholesterol removal, such as CD36 (By similarity). Involved in proteasome homeostasis: in response to proteasome inhibition, it is released from the endoplasmic reticulum membrane, translocates to the nucleus and activates expression of genes encoding proteasome subunits (PubMed:20932482). {ECO:0000250|UniProtKB:Q61985, ECO:0000269|PubMed:20932482, ECO:0000269|PubMed:24448410}.; FUNCTION: [Transcription factor NRF1]: CNC-type bZIP family transcription factor that translocates to the nucleus and regulates expression of target genes in response to various stresses (PubMed:8932385, PubMed:9421508). Heterodimerizes with small-Maf proteins (MAFF, MAFG or MAFK) and binds DNA motifs including the antioxidant response elements (AREs), which regulate expression of genes involved in oxidative stress response (PubMed:8932385, PubMed:9421508). Activates or represses expression of target genes, depending on the context (PubMed:8932385, PubMed:9421508). Plays a key role in cholesterol homeostasis by acting as a sensor of cholesterol excess: in low cholesterol conditions, translocates into the nucleus and represses expression of genes involved in defense against cholesterol excess, such as CD36 (By similarity). In excess cholesterol conditions, the endoplasmic reticulum membrane form of the protein directly binds cholesterol via its CRAC motif, preventing cleavage and release of the transcription factor NRF1, thereby allowing expression of genes promoting cholesterol removal (By similarity). Critical for redox balance in response to oxidative stress: acts by binding the AREs motifs on promoters and mediating activation of oxidative stress response genes, such as GCLC, GCLM, GSS, MT1 and MT2 (By similarity). Plays an essential role during fetal liver hematopoiesis: probably has a protective function against oxidative stress and is involved in lipid homeostasis in the liver (By similarity). Involved in proteasome homeostasis: in response to proteasome inhibition, mediates the 'bounce-back' of proteasome subunits by translocating into the nucleus and activating expression of genes encoding proteasome subunits (PubMed:20932482). Also involved in regulating glucose flux (By similarity). Together with CEBPB; represses expression of DSPP during odontoblast differentiation (PubMed:15308669). In response to ascorbic acid induction, activates expression of SP7/Osterix in osteoblasts. {ECO:0000250|UniProtKB:Q61985, ECO:0000269|PubMed:15308669, ECO:0000269|PubMed:20932482, ECO:0000269|PubMed:8932385, ECO:0000269|PubMed:9421508}.FUNCTION: Endoglycosidase that releases N-glycans from glycoproteins by cleaving the beta-1,4-glycosidic bond in the N,N'-diacetylchitobiose core. Involved in the processing of free oligosaccharides in the cytosol. {ECO:0000269|PubMed:12114544}.

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneNFE2L1chr17:46134864chr9:130582316ENST00000357480+45125_288294.0743.0Compositional biasNote=Asp/Glu-rich (acidic)
HgeneNFE2L1chr17:46134864chr9:130582316ENST00000362042+56125_288324.0773.0Compositional biasNote=Asp/Glu-rich (acidic)
HgeneNFE2L1chr17:46134864chr9:130582316ENST00000585291+56125_288294.0743.0Compositional biasNote=Asp/Glu-rich (acidic)
HgeneNFE2L1chr17:46134864chr9:130582316ENST00000357480+45191_199294.0743.0RegionCholesterol recognition/amino acid consensus (CRAC) region
HgeneNFE2L1chr17:46134864chr9:130582316ENST00000362042+56191_199324.0773.0RegionCholesterol recognition/amino acid consensus (CRAC) region
HgeneNFE2L1chr17:46134864chr9:130582316ENST00000585291+56191_199294.0743.0RegionCholesterol recognition/amino acid consensus (CRAC) region
HgeneNFE2L1chr17:46134864chr9:130582316ENST00000357480+457_24294.0743.0TransmembraneHelical%3B Signal-anchor for type II membrane protein
HgeneNFE2L1chr17:46134864chr9:130582316ENST00000362042+567_24324.0773.0TransmembraneHelical%3B Signal-anchor for type II membrane protein
HgeneNFE2L1chr17:46134864chr9:130582316ENST00000585291+567_24294.0743.0TransmembraneHelical%3B Signal-anchor for type II membrane protein
TgeneENGchr17:46134864chr9:130582316ENST00000344849714399_401378.0626.0MotifCell attachment site
TgeneENGchr17:46134864chr9:130582316ENST00000373203715399_401378.0659.0MotifCell attachment site
TgeneENGchr17:46134864chr9:130582316ENST00000344849714612_658378.0626.0Topological domainCytoplasmic
TgeneENGchr17:46134864chr9:130582316ENST00000373203715612_658378.0659.0Topological domainCytoplasmic
TgeneENGchr17:46134864chr9:130582316ENST00000344849714587_611378.0626.0TransmembraneHelical
TgeneENGchr17:46134864chr9:130582316ENST00000373203715587_611378.0659.0TransmembraneHelical

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneNFE2L1chr17:46134864chr9:130582316ENST00000357480+45496_517294.0743.0Compositional biasNote=Poly-Ser
HgeneNFE2L1chr17:46134864chr9:130582316ENST00000362042+56496_517324.0773.0Compositional biasNote=Poly-Ser
HgeneNFE2L1chr17:46134864chr9:130582316ENST00000585291+56496_517294.0743.0Compositional biasNote=Poly-Ser
HgeneNFE2L1chr17:46134864chr9:130582316ENST00000357480+45654_717294.0743.0DomainbZIP
HgeneNFE2L1chr17:46134864chr9:130582316ENST00000362042+56654_717324.0773.0DomainbZIP
HgeneNFE2L1chr17:46134864chr9:130582316ENST00000585291+56654_717294.0743.0DomainbZIP
HgeneNFE2L1chr17:46134864chr9:130582316ENST00000357480+45476_480294.0743.0MotifDestruction motif
HgeneNFE2L1chr17:46134864chr9:130582316ENST00000362042+56476_480324.0773.0MotifDestruction motif
HgeneNFE2L1chr17:46134864chr9:130582316ENST00000585291+56476_480294.0743.0MotifDestruction motif
HgeneNFE2L1chr17:46134864chr9:130582316ENST00000357480+45379_383294.0743.0RegionCPD
HgeneNFE2L1chr17:46134864chr9:130582316ENST00000357480+45656_675294.0743.0RegionBasic motif
HgeneNFE2L1chr17:46134864chr9:130582316ENST00000357480+45682_696294.0743.0RegionLeucine-zipper
HgeneNFE2L1chr17:46134864chr9:130582316ENST00000362042+56379_383324.0773.0RegionCPD
HgeneNFE2L1chr17:46134864chr9:130582316ENST00000362042+56656_675324.0773.0RegionBasic motif
HgeneNFE2L1chr17:46134864chr9:130582316ENST00000362042+56682_696324.0773.0RegionLeucine-zipper
HgeneNFE2L1chr17:46134864chr9:130582316ENST00000585291+56379_383294.0743.0RegionCPD
HgeneNFE2L1chr17:46134864chr9:130582316ENST00000585291+56656_675294.0743.0RegionBasic motif
HgeneNFE2L1chr17:46134864chr9:130582316ENST00000585291+56682_696294.0743.0RegionLeucine-zipper
TgeneENGchr17:46134864chr9:130582316ENST00000344849714336_576378.0626.0Compositional biasNote=Ser/Thr-rich
TgeneENGchr17:46134864chr9:130582316ENST00000373203715336_576378.0659.0Compositional biasNote=Ser/Thr-rich
TgeneENGchr17:46134864chr9:130582316ENST00000344849714363_533378.0626.0DomainZP
TgeneENGchr17:46134864chr9:130582316ENST00000373203715363_533378.0659.0DomainZP
TgeneENGchr17:46134864chr9:130582316ENST00000344849714200_330378.0626.0RegionOR1%2C C-terminal part
TgeneENGchr17:46134864chr9:130582316ENST0000034484971426_46378.0626.0RegionOR1%2C N-terminal part
TgeneENGchr17:46134864chr9:130582316ENST0000034484971447_199378.0626.0RegionOR2
TgeneENGchr17:46134864chr9:130582316ENST00000373203715200_330378.0659.0RegionOR1%2C C-terminal part
TgeneENGchr17:46134864chr9:130582316ENST0000037320371526_46378.0659.0RegionOR1%2C N-terminal part
TgeneENGchr17:46134864chr9:130582316ENST0000037320371547_199378.0659.0RegionOR2
TgeneENGchr17:46134864chr9:130582316ENST0000034484971426_586378.0626.0Topological domainExtracellular
TgeneENGchr17:46134864chr9:130582316ENST0000037320371526_586378.0659.0Topological domainExtracellular


Top

Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
NFE2L1
ENG


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


Top

Related Drugs to NFE2L1-ENG


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

Top

Related Diseases to NFE2L1-ENG


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

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