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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 REL |
Gene summary |
Gene information | Gene symbol | REL | Gene ID | 5966 |
Gene name | REL proto-oncogene, NF-kB subunit | |
Synonyms | C-Rel | |
Cytomap | 2p16.1 | |
Type of gene | protein-coding | |
Description | proto-oncogene c-Reloncogene REL, avian reticuloendotheliosisv-rel avian reticuloendotheliosis viral oncogene homolog | |
Modification date | 20200327 | |
UniProtAcc | A0A2R8Y7Q6, Q04864, | |
Context |
Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Gene | GO ID | GO term | PubMed ID |
REL | GO:0010629 | negative regulation of gene expression | 22065573 |
REL | GO:0032688 | negative regulation of interferon-beta production | 22065573 |
REL | GO:0045944 | positive regulation of transcription by RNA polymerase II | 1406630 |
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Gene structures and expression levels for REL |
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 |
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 REL |
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_180068 | chr2 | 60881656:60881850:60891683:60891825:60894397:60894545 | 60891683:60891825 |
exon_skip_186149 | chr2 | 60894397:60894545:60898970:60900884:60900992:60901083 | 60898970:60900884 |
exon_skip_214574 | chr2 | 60920041:60920109:60920574:60920642:60921763:60922984 | 60920574:60920642 |
exon_skip_99168 | chr2 | 60920041:60920109:60920383:60920478:60920574:60920642 | 60920383:60920478 |
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 REL |
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 |
ENST00000295025 | 60920383 | 60920478 | In-frame |
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 |
ENST00000295025 | 60920383 | 60920478 | In-frame |
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 |
ENST00000295025 | 60920383 | 60920478 | In-frame |
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Infer the effects of exon skipping event on protein functional features for REL |
p-ENSG00000162924_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 |
ENST00000295025 | 11272 | 619 | 60920383 | 60920478 | 1244 | 1338 | 308 | 339 |
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 |
ENST00000295025 | 11272 | 619 | 60920383 | 60920478 | 1244 | 1338 | 308 | 339 |
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 |
ENST00000295025 | 11272 | 619 | 60920383 | 60920478 | 1244 | 1338 | 308 | 339 |
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 |
Q04864 | 308 | 339 | 308 | 339 | Alternative sequence | ID=VSP_055857;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q04864 | 308 | 339 | 2 | 619 | Chain | ID=PRO_0000205165;Note=Proto-oncogene c-Rel |
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 |
Q04864 | 308 | 339 | 308 | 339 | Alternative sequence | ID=VSP_055857;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q04864 | 308 | 339 | 2 | 619 | Chain | ID=PRO_0000205165;Note=Proto-oncogene c-Rel |
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 |
Q04864 | 308 | 339 | 308 | 339 | Alternative sequence | ID=VSP_055857;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q04864 | 308 | 339 | 2 | 619 | Chain | ID=PRO_0000205165;Note=Proto-oncogene c-Rel |
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3'-UTR located exon skipping events that lost miRNA binding sites in REL |
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 REL |
- 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 REL |
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 REL |
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 REL |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
CB | RBM3 | exon_skip_214574 | 4.677700e-01 | 1.990586e-07 |
CB | TRA2A | exon_skip_214574 | -5.432081e-01 | 6.085948e-10 |
CB | NUP42 | exon_skip_214574 | 4.967815e-01 | 2.530951e-08 |
CB | PTBP1 | exon_skip_214574 | -4.477709e-01 | 7.412300e-07 |
CB | PABPC4 | exon_skip_214574 | 4.205413e-01 | 3.900764e-06 |
HCC | RBM3 | exon_skip_214574 | 5.802134e-01 | 6.264237e-20 |
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RelatedDrugs for REL |
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 REL |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |