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Center for Computational Systems Medicine
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Gene summary

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Gene structures and expression levels

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Exon skipping events with PSIs in TCGA

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Exon skipping events with PSIs in GTEx

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Open reading frame (ORF) annotation in the exon skipping event

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Exon skipping events in the canonical protein sequence

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SNVs in the skipped exons with depth of coverage

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon

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Related drugs with this gene

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Related diseases with this gene

Gene summary for NFE2L2

check button Gene summary
Gene informationGene symbol

NFE2L2

Gene ID

4780

Gene namenuclear factor, erythroid 2 like 2
SynonymsHEBP1|IMDDHH|NRF2
Cytomap

2q31.2

Type of geneprotein-coding
Descriptionnuclear factor erythroid 2-related factor 2nuclear factor erythroid-derived 2-like 2
Modification date20180527
UniProtAcc

Q16236

ContextPubMed: NFE2L2 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract]
- Title (PMID)

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed ID
NFE2L2

GO:0010499

proteasomal ubiquitin-independent protein catabolic process

19424503

NFE2L2

GO:0016567

protein ubiquitination

15983046

NFE2L2

GO:0043161

proteasome-mediated ubiquitin-dependent protein catabolic process

15983046

NFE2L2

GO:0045944

positive regulation of transcription by RNA polymerase II

17015834

NFE2L2

GO:0071498

cellular response to fluid shear stress

25190803


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Exon skipping events across known transcript of Ensembl for NFE2L2 from UCSC genome browser

check buttonSkipped exons in TCGA and GTEx based on Ensembl gene isoform structure.
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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Gene isoform structures and expression levels for NFE2L2

check button Expression levels of gene isoforms across TCGA.
gencode gene structure

check button Expression levels of gene isoforms across GTEx.
gencode gene structure


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Exon skipping events with PSIs in TCGA for NFE2L2

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_3451372178096578:178096736:178097119:178097290:178097977:178098067178097119:178097290ENSG00000116044.11ENST00000446151.2
exon_skip_3451382178096578:178096736:178097119:178097311:178097977:178098067178097119:178097311ENSG00000116044.11ENST00000464747.1,ENST00000586532.1,ENST00000397062.3,ENST00000397063.4,ENST00000421929.1,ENST00000448782.1
exon_skip_3451422178097226:178097311:178097977:178098067:178098732:178098999178097977:178098067ENSG00000116044.11ENST00000588123.1,ENST00000464747.1,ENST00000586532.1,ENST00000397062.3,ENST00000397063.4,ENST00000421929.1,ENST00000448782.1
exon_skip_3451472178097977:178098067:178098732:178098999:178128130:178128182178098732:178098999ENSG00000116044.11ENST00000423513.1,ENST00000446151.2,ENST00000397063.4
exon_skip_3451482178097977:178098067:178098732:178098999:178129259:178129387178098732:178098999ENSG00000116044.11ENST00000397062.3
exon_skip_3451522178098981:178098999:178148327:178148532:178152338:178152505178148327:178148532ENSG00000116044.11ENST00000588123.1
exon_skip_3451652178098981:178098999:178175691:178175763:178175960:178176005178175691:178175763ENSG00000116044.11ENST00000586532.1
exon_skip_3452052178199120:178199257:178203325:178203427:178257300:178257425178203325:178203427ENSG00000116044.11ENST00000464747.1

check button PSI values of skipped exons in TCGA.
psi tcga

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Exon skipping events with PSIs in GTEx for NFE2L2

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_3451372178096578:178096736:178097119:178097290:178097977:178098067178097119:178097290ENSG00000116044.11ENST00000446151.2
exon_skip_3451382178096578:178096736:178097119:178097311:178097977:178098067178097119:178097311ENSG00000116044.11ENST00000397063.4,ENST00000397062.3,ENST00000464747.1,ENST00000448782.1,ENST00000586532.1,ENST00000421929.1
exon_skip_3451422178097226:178097311:178097977:178098067:178098732:178098999178097977:178098067ENSG00000116044.11ENST00000397063.4,ENST00000397062.3,ENST00000464747.1,ENST00000448782.1,ENST00000586532.1,ENST00000421929.1,ENST00000588123.1
exon_skip_3451522178098981:178098999:178148327:178148532:178152338:178152505178148327:178148532ENSG00000116044.11ENST00000588123.1
exon_skip_3451652178098981:178098999:178175691:178175763:178175960:178176005178175691:178175763ENSG00000116044.11ENST00000586532.1
exon_skip_3452052178199120:178199257:178203325:178203427:178257300:178257425178203325:178203427ENSG00000116044.11ENST00000464747.1

check button PSI values of skipped exons in GTEx.
psi gtex

* Skipped exon sequences.

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Open reading frame (ORF) annotation in the exon skipping event for NFE2L2

check button Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST00000397062178097119178097311In-frame
ENST00000397062178097977178098067In-frame
ENST00000397062178098732178098999In-frame

check button Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST00000397062178097119178097311In-frame
ENST00000397062178097977178098067In-frame

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Infer the effects of exon skipping event on protein functional features for NFE2L2

check button Exon skipping at the protein sequence level and followed lost functional features.
* Click on the image to enlarge it in a new window.
prot feature distribution

check button Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST00000397062287060517809873217809899960186715104
ENST000003970622870605178097977178098067868957104134
ENST0000039706228706051780971191780973119581149134198

check button Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST000003970622870605178097977178098067868957104134
ENST0000039706228706051780971191780973119581149134198

check button Lost protein functional features of individual exon skipping events in TCGA.
UniProt acc.Start of exon skipping (AA)End of exon skipping (AA)Protein feature start (AA)Protein feature end (AA)Category of protein featureDescription of feature
Q1623615104116Alternative sequenceID=VSP_025045;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|Ref.2;Dbxref=PMID:14702039
Q16236151041605ChainID=PRO_0000076449;Note=Nuclear factor erythroid 2-related factor 2
Q16236151044040Modified residueNote=Phosphoserine%3B by PKC;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O54968
Q16236151048080MutagenesisNote=Loss of interaction with KEAP1. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16888629;Dbxref=PMID:16888629
Q16236151043131Natural variantID=VAR_080492;Note=In IMDDHH. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29018201;Dbxref=PMID:29018201
Q16236151044343Natural variantID=VAR_032110;Note=R->Q;Dbxref=dbSNP:rs35248500
Q16236151047979Natural variantID=VAR_080493;Note=In IMDDHH. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29018201;Dbxref=PMID:29018201
Q16236151048080Natural variantID=VAR_080494;Note=In IMDDHH%3B increased protein abundance%3B increased positive regulation of transcription of target genes%3B changed cell redox homeostasis. T->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29018201;Dbxref=PMID:29018201
Q16236151048181Natural variantID=VAR_080495;Note=In IMDDHH. G->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29018201;Dbxref=PMID:29018201
Q16236151049999Natural variantID=VAR_020322;Note=S->P;Dbxref=dbSNP:rs5031039
Q16236151047272Sequence conflictNote=A->T;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q16236151049292Sequence conflictNote=I->T;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q16236151047880TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2FLU
Q162361041341605ChainID=PRO_0000076449;Note=Nuclear factor erythroid 2-related factor 2
Q16236134198135141Alternative sequenceID=VSP_046168;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q162361341981605ChainID=PRO_0000076449;Note=Nuclear factor erythroid 2-related factor 2
Q16236134198178178Sequence conflictNote=D->Y;Ontology_term=ECO:0000305;evidence=ECO:0000305


check button Lost protein functional features of individual exon skipping events in GTEx.
UniProt acc.Start of exon skipping (AA)End of exon skipping (AA)Protein feature start (AA)Protein feature end (AA)Category of protein featureDescription of feature
Q162361041341605ChainID=PRO_0000076449;Note=Nuclear factor erythroid 2-related factor 2
Q16236134198135141Alternative sequenceID=VSP_046168;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q162361341981605ChainID=PRO_0000076449;Note=Nuclear factor erythroid 2-related factor 2
Q16236134198178178Sequence conflictNote=D->Y;Ontology_term=ECO:0000305;evidence=ECO:0000305


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SNVs in the skipped exons for NFE2L2

check button - Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.
lollipop

check button - Differential PSIs between mutated versus non-mutated samples.

check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
LIHCTCGA-DD-A39Y-01exon_skip_345148
exon_skip_345147
178098733178098999178098886178098886Frame_Shift_DelT-p.K53fs
LIHCTCGA-G3-A3CJ-01exon_skip_345148
exon_skip_345147
178098733178098999178098895178098895Frame_Shift_DelT-p.K50fs
CESCTCGA-C5-A1MH-01exon_skip_345148
exon_skip_345147
178098733178098999178098900178098900Frame_Shift_DelC-p.E49fs
UCECTCGA-D1-A16N-01exon_skip_345148
exon_skip_345147
178098733178098999178098885178098886Frame_Shift_Ins-Tp.K53fs
ESCATCGA-LN-A5U5-01exon_skip_345148
exon_skip_345147
178098733178098999178098944178098945Frame_Shift_Ins-Tp.R34fs
CESCTCGA-C5-A1BL-01exon_skip_345137
178097120178097290178097218178097218Nonsense_MutationCAp.E166*
CESCTCGA-C5-A1BL-01exon_skip_345138
178097120178097311178097218178097218Nonsense_MutationCAp.E166*
LGGTCGA-E1-A7YE-01exon_skip_345137
178097120178097290178097223178097223Nonsense_MutationGCp.S164*
LGGTCGA-E1-A7YE-01exon_skip_345138
178097120178097311178097223178097223Nonsense_MutationGCp.S164*
LIHCTCGA-DD-A4NO-01exon_skip_345148
exon_skip_345147
178098733178098999178098810178098810Nonsense_MutationCAp.E79*
LIHCTCGA-DD-A4NO-01exon_skip_345148
exon_skip_345147
178098733178098999178098810178098810Nonsense_MutationCAp.E79X
LUADTCGA-17-Z023-01exon_skip_345148
exon_skip_345147
178098733178098999178098810178098810Nonsense_MutationCAp.E79*

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
HEC151_ENDOMETRIUM178098733178098999178098976178098979Frame_Shift_DelAAGT-p.IL22fs
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE178098733178098999178098846178098847Frame_Shift_Ins-Tp.E67fs
NCIH1568_LUNG178098733178098999178098808178098816In_Frame_DelCTCTTCATC-p.DEE77del
TE6_OESOPHAGUS178098733178098999178098814178098834In_Frame_DelATCTAGTTGTAACTGAGCGAA-p.FAQLQLD71del
NCIH748_LUNG178097120178097311178097191178097191Missense_MutationCAp.V175F
NCIH748_LUNG178097120178097290178097191178097191Missense_MutationCAp.V175F
HCC2450_LUNG178097120178097311178097278178097278Missense_MutationCTp.D146N
HCC2450_LUNG178097120178097290178097278178097278Missense_MutationCTp.D146N
LS513_LARGE_INTESTINE178097120178097311178097298178097298Missense_MutationGTp.T139K
DOTC24510_CERVIX178097978178098067178097980178097980Missense_MutationCTp.E134K
CALU1_LUNG178097978178098067178097997178097997Missense_MutationGAp.P128L
HO1U1_UPPER_AERODIGESTIVE_TRACT178098733178098999178098799178098799Missense_MutationTAp.E82D
253J_URINARY_TRACT178098733178098999178098804178098804Missense_MutationCTp.G81S
253JBV_URINARY_TRACT178098733178098999178098804178098804Missense_MutationCTp.G81S
BB49HNC_UPPER_AERODIGESTIVE_TRACT178098733178098999178098804178098804Missense_MutationCTp.G81S
OE21_OESOPHAGUS178098733178098999178098804178098804Missense_MutationCTp.G81S
KYSE520_OESOPHAGUS178098733178098999178098806178098806Missense_MutationGAp.T80I
CAL39_VULVA178098733178098999178098806178098806Missense_MutationGCp.T80R
LK2_LUNG178098733178098999178098810178098810Missense_MutationCTp.E79K
MESSA_SOFT_TISSUE178098733178098999178098810178098810Missense_MutationCTp.E79K
KYSE180_OESOPHAGUS178098733178098999178098815178098815Missense_MutationTAp.D77V
EBC1_LUNG178098733178098999178098815178098815Missense_MutationTAp.D77V
SW579_THYROID178098733178098999178098816178098816Missense_MutationCAp.D77Y
CGTHW1_THYROID178098733178098999178098816178098816Missense_MutationCAp.D77Y
SW156_KIDNEY178098733178098999178098816178098816Missense_MutationCAp.D77Y
IGR1_SKIN178098733178098999178098826178098826Missense_MutationCGp.Q73H
HCC2450_LUNG178098733178098999178098840178098840Missense_MutationCGp.A69P
HEC265_ENDOMETRIUM178098733178098999178098944178098944Missense_MutationCGp.R34P
BC3C_URINARY_TRACT178098733178098999178098944178098944Missense_MutationCTp.R34Q
HCC2814_LUNG178098733178098999178098944178098944Missense_MutationCTp.R34Q
LB771HNC_UPPER_AERODIGESTIVE_TRACT178098733178098999178098945178098945Missense_MutationGCp.R34G
NCIH2228_LUNG178098733178098999178098953178098953Missense_MutationCGp.G31A
RCCER_KIDNEY178098733178098999178098953178098953Missense_MutationCGp.G31A
HEC1A_ENDOMETRIUM178098733178098999178098954178098954Missense_MutationCTp.G31R
HEC1_ENDOMETRIUM178098733178098999178098954178098954Missense_MutationCTp.G31R
HEC1B_ENDOMETRIUM178098733178098999178098954178098954Missense_MutationCTp.G31R
TE11_OESOPHAGUS178098733178098999178098959178098959Missense_MutationTCp.D29G
SKGIIIA_CERVIX178098733178098999178098959178098959Missense_MutationTAp.D29V
BICR16_UPPER_AERODIGESTIVE_TRACT178098733178098999178098960178098960Missense_MutationCGp.D29H
TE14_OESOPHAGUS178098733178098999178098960178098960Missense_MutationCGp.D29H
RERFLCSQ1_LUNG178098733178098999178098960178098960Missense_MutationCGp.D29H
HA7RCC_KIDNEY178098733178098999178098965178098965Missense_MutationTGp.D27A
CORL88_LUNG178098733178098999178098968178098968Missense_MutationTGp.Q26P
SNU1040_LARGE_INTESTINE178098733178098999178098972178098972Missense_MutationTCp.R25G
KYSE70_OESOPHAGUS178098733178098999178098973178098973Missense_MutationCAp.W24C
KMH2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE178098733178098999178098981178098981Missense_MutationTCp.I22V
LC1SQSF_LUNG178098733178098999178098950178102746Splice_SiteACTCCAAGATCTATATCTTGCCTCCAAAGTATGTCAATCAAATCCATGTCCTATGTTTAAGACAAAAAAAGGAAGGAGAGAGCTCATGTTTTTTAAATGACAGATACCACATAAATTAATTCACATTATGCCACTGTTGATGGTGGGAAGTGGGGAGATTACAAATACAATCTAAATGAGAACACAGATCCAATGTTCTAGAAGAGCACAGTTAATTCCATTCAATGAATCTATTCATTAAAGACAACAAACAAC-p.SIKIAGSCIPFIFGAST16fs

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NFE2L2

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NFE2L2


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NFE2L2


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RelatedDrugs for NFE2L2

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
GeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for NFE2L2

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
NFE2L2C4277682Chemical and Drug Induced Liver Injury4CTD_human
NFE2L2C0007131Non-Small Cell Lung Carcinoma2CTD_human
NFE2L2C0033578Prostatic Neoplasms2CTD_human
NFE2L2C0007137Squamous cell carcinoma1CTD_human
NFE2L2C0008370Cholestasis1CTD_human
NFE2L2C0011881Diabetic Nephropathy1CTD_human
NFE2L2C0013990Pathological accumulation of air in tissues1CTD_human
NFE2L2C0014072Experimental Autoimmune Encephalomyelitis1CTD_human
NFE2L2C0014170Endometrial Neoplasms1CTD_human
NFE2L2C0017178Gastrointestinal Diseases1CTD_human
NFE2L2C0020456Hyperglycemia1CTD_human
NFE2L2C0020507Hyperplasia1CTD_human
NFE2L2C0022593Keratosis1CTD_human
NFE2L2C0022658Kidney Diseases1CTD_human
NFE2L2C0023890Liver Cirrhosis1CTD_human
NFE2L2C0023893Liver Cirrhosis, Experimental1CTD_human
NFE2L2C0023903Liver neoplasms1CTD_human
NFE2L2C0027540Necrosis1CTD_human
NFE2L2C0034069Pulmonary Fibrosis1CTD_human
NFE2L2C0037286Skin Neoplasms1CTD_human
NFE2L2C0041755Adverse reaction to drug1CTD_human
NFE2L2C0085215Ovarian Failure, Premature1CTD_human
NFE2L2C0162820Dermatitis, Allergic Contact1CTD_human
NFE2L2C0235032Neurotoxicity Syndromes1CTD_human
NFE2L2C0242488Acute Lung Injury1CTD_human
NFE2L2C0279626Squamous cell carcinoma of esophagus1CTD_human
NFE2L2C0400966Non-alcoholic Fatty Liver Disease1CTD_human
NFE2L2C0887833Carcinoma, Pancreatic Ductal1CTD_human
NFE2L2C2239176Liver carcinoma1CTD_human
NFE2L2C2609414Acute kidney injury1CTD_human