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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for EREG |
 Gene summary |
| Gene information | Gene symbol | EREG | Gene ID | 2069 |
| Gene name | epiregulin | |
| Synonyms | EPR|ER|Ep | |
| Cytomap | 4q13.3 | |
| Type of gene | protein-coding | |
| Description | proepiregulin | |
| Modification date | 20180523 | |
| UniProtAcc | O14944 | |
| Context | PubMed: EREG [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| EREG | GO:0007267 | cell-cell signaling | 14581411 |
| EREG | GO:0008284 | positive regulation of cell proliferation | 10681561 |
| EREG | GO:0009299 | mRNA transcription | 10681561 |
| EREG | GO:0019221 | cytokine-mediated signaling pathway | 9419975 |
| EREG | GO:0042108 | positive regulation of cytokine biosynthetic process | 10681561 |
| EREG | GO:0042327 | positive regulation of phosphorylation | 9419975|10681561 |
| EREG | GO:0043616 | keratinocyte proliferation | 10681561 |
| EREG | GO:0045740 | positive regulation of DNA replication | 9337852|10681561 |
| EREG | GO:0045860 | positive regulation of protein kinase activity | 14581411 |
| EREG | GO:0045892 | negative regulation of transcription, DNA-templated | 14581411 |
| EREG | GO:0048146 | positive regulation of fibroblast proliferation | 12702554 |
| EREG | GO:0051151 | negative regulation of smooth muscle cell differentiation | 14581411 |
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Exon skipping events across known transcript of Ensembl for EREG from UCSC genome browser |
| Skipped 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. |
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Gene isoform structures and expression levels for EREG |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for EREG |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_424390 | 4 | 75230889:75231092:75245164:75245251:75246730:75246854 | 75245164:75245251 | ENSG00000124882.3 | ENST00000507603.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for EREG |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_424390 | 4 | 75230889:75231092:75245164:75245251:75246730:75246854 | 75245164:75245251 | ENSG00000124882.3 | ENST00000507603.1 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for EREG |
| Open reading frame (ORF) of individual exon skipping events in TCGA 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 GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
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Infer the effects of exon skipping event on protein functional features for EREG |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA 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 GTEx 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 |
| 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 feature | Description of feature |
| 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 feature | Description of feature |
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SNVs in the skipped exons for EREG |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| COAD | TCGA-A6-2672-01 | exon_skip_424390 | 75245165 | 75245251 | 75245229 | 75245230 | Frame_Shift_Del | CA | - | p.44_45del |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - 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 |
| HCC2218_BREAST | 75245165 | 75245251 | 75245222 | 75245222 | Missense_Mutation | G | C | p.G42A |
| PCI4B_UPPER_AERODIGESTIVE_TRACT | 75245165 | 75245251 | 75245224 | 75245224 | Missense_Mutation | G | C | p.E43Q |
| BEN_LUNG | 75245165 | 75245251 | 75245165 | 75245165 | Splice_Site | G | A | p.G23D |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for EREG |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for EREG |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for EREG |
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RelatedDrugs for EREG |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for EREG |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| EREG | C0162568 | Erythropoietic Protoporphyria | 1 | CTD_human |
| EREG | C0919267 | ovarian neoplasm | 1 | CTD_human |
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