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Open reading frame (ORF) annotation in the exon skipping event | |
3'-UTR located exon skipping events lost miRNA binding sites | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Gene summary for NFE2L2 |
Gene summary |
Gene information | Gene symbol | NFE2L2 | Gene ID | 4780 |
Gene name | nuclear factor, erythroid 2 like 2 | |
Synonyms | HEBP1|IMDDHH|NRF2|Nrf-2 | |
Cytomap | 2q31.2 | |
Type of gene | protein-coding | |
Description | nuclear factor erythroid 2-related factor 2nuclear factor erythroid-derived 2-like 2 | |
Modification date | 20200329 | |
UniProtAcc | ||
Context |
Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Gene | GO ID | GO term | PubMed 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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Gene structures and expression levels for NFE2L2 |
Skipped exons in the ROSMAP, MSBB, and Mayo 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. |
Differentially expressed gene analysis across multiple brain tissues between AD and control. |
Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
CB | UP | ENST00000477534.1 | NFE2L2-212:retained_intron:NFE2L2 | 5.810743e+01 | 1.067326e+00 | 1.254293e-11 | 1.181594e-09 |
CB | DOWN | ENST00000458603.1 | NFE2L2-209:protein_coding:NFE2L2 | 5.632121e+01 | -1.227001e+00 | 7.166720e-11 | 4.782068e-09 |
CB | UP | ENST00000397063.8 | NFE2L2-202:protein_coding:NFE2L2 | 4.969467e+02 | 1.012873e+00 | 2.806949e-07 | 5.087496e-06 |
CB | DOWN | ENST00000588123.1 | NFE2L2-214:protein_coding:NFE2L2 | 3.697778e+00 | -1.127933e+00 | 1.444542e-04 | 1.012848e-03 |
TC | DOWN | ENST00000458603.1 | NFE2L2-209:protein_coding:NFE2L2 | 2.095893e+01 | -8.017191e-01 | 3.355388e-06 | 1.084223e-04 |
Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for NFE2L2 |
Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
All exon skipping events in AD cohorts. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
exon_skip_62310 | chr2 | 177232499:177232583:177233250:177233339:177234005:177234271 | 177233250:177233339 |
Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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Open reading frame (ORF) annotation in the exon skipping event for NFE2L2 |
Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000397062 | 177233250 | 177233339 | In-frame |
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Infer the effects of exon skipping event on protein functional features for NFE2L2 |
p-ENSG00000116044_img4.png |
Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases. |
ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases. |
ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases. |
ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
ENST00000397062 | 2870 | 605 | 177233250 | 177233339 | 868 | 956 | 104 | 133 |
Lost protein functional features of individual exon skipping events in ROSMAP. |
UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
Lost protein functional features of individual exon skipping events in MSBB. |
UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
Lost protein functional features of individual exon skipping events in Mayo. |
UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
Q16236 | 104 | 133 | 1 | 605 | Chain | ID=PRO_0000076449;Note=Nuclear factor erythroid 2-related factor 2 |
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3'-UTR located exon skipping events that lost miRNA binding sites in NFE2L2 |
3'-UTR exon skipping evnets lost miRNA binding. |
Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for NFE2L2 |
- Differential PSIs between mutated versus non-mutated samples. |
- Depth of Coverage in the skipped exon of the mutated samples. |
- Sashimi plot in the skipped exon of the mutated samples. |
- Non-synonymous mutations located in the skipped exons. |
Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
- Non-synonymous mutations located in the skipped exons in CCLE. |
Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
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AD stage-associated exon skippint events for NFE2L2 |
Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NFE2L2 |
sQTL information located at the skipped exons. |
Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for NFE2L2 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for NFE2L2 |
Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for NFE2L2 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |