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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 AREG |
 Gene summary |
| Gene information | Gene symbol | AREG | Gene ID | 374 |
| Gene name | amphiregulin | |
| Synonyms | AR|AREGB|CRDGF|SDGF | |
| Cytomap | 4q13.3 | |
| Type of gene | protein-coding | |
| Description | amphiregulinamphiregulin Bcolorectum cell-derived growth factorschwannoma-derived growth factor | |
| Modification date | 20180523 | |
| UniProtAcc | P15514 | |
| Context | PubMed: AREG [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 |
| AREG | GO:0007173 | epidermal growth factor receptor signaling pathway | 12743035 |
| AREG | GO:0007186 | G-protein coupled receptor signaling pathway | 12743035 |
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Exon skipping events across known transcript of Ensembl for AREG 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 AREG |
| 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 AREG |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_424394 | 4 | 75312250:75312499:75314763:75314965:75316096:75316249 | 75314763:75314965 | ENSG00000109321.6 | ENST00000395748.3,ENST00000502307.1,ENST00000264487.2 |
| exon_skip_424396 | 4 | 75314763:75314965:75316096:75316249:75318260:75318354 | 75316096:75316249 | ENSG00000109321.6 | ENST00000395748.3,ENST00000264487.2 |
| exon_skip_424398 | 4 | 75316096:75316249:75318260:75318372:75320475:75320722 | 75318260:75318372 | ENSG00000109321.6 | ENST00000395748.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for AREG |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_424394 | 4 | 75312250:75312499:75314763:75314965:75316096:75316249 | 75314763:75314965 | ENSG00000109321.6 | ENST00000395748.3,ENST00000264487.2,ENST00000502307.1 |
| exon_skip_424396 | 4 | 75314763:75314965:75316096:75316249:75318260:75318354 | 75316096:75316249 | ENSG00000109321.6 | ENST00000395748.3,ENST00000264487.2 |
| exon_skip_424398 | 4 | 75316096:75316249:75318260:75318372:75320475:75320722 | 75318260:75318372 | ENSG00000109321.6 | ENST00000395748.3 |
| 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 AREG |
| 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 |
| ENST00000395748 | 75318260 | 75318372 | 3UTR-3CDS |
| ENST00000395748 | 75314763 | 75314965 | Frame-shift |
| ENST00000395748 | 75316096 | 75316249 | In-frame |
| 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 |
| ENST00000395748 | 75318260 | 75318372 | 3UTR-3CDS |
| ENST00000395748 | 75314763 | 75314965 | Frame-shift |
| ENST00000395748 | 75316096 | 75316249 | In-frame |
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Infer the effects of exon skipping event on protein functional features for AREG |
| 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 |
| ENST00000395748 | 1257 | 252 | 75316096 | 75316249 | 725 | 877 | 171 | 221 |
| 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 |
| ENST00000395748 | 1257 | 252 | 75316096 | 75316249 | 725 | 877 | 171 | 221 |
| 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 |
| P15514 | 171 | 221 | 167 | 171 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RNL |
| P15514 | 171 | 221 | 178 | 180 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RNL |
| P15514 | 171 | 221 | 101 | 187 | Chain | ID=PRO_0000007474;Note=Amphiregulin |
| P15514 | 171 | 221 | 172 | 181 | Disulfide bond | Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255|PROSITE-ProRule:PRU00076,ECO:0000269|Ref.14 |
| P15514 | 171 | 221 | 142 | 182 | Domain | Note=EGF-like;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076 |
| P15514 | 171 | 221 | 188 | 252 | Propeptide | ID=PRO_0000007475 |
| P15514 | 171 | 221 | 199 | 221 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| P15514 | 171 | 221 | 167 | 171 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RNL |
| P15514 | 171 | 221 | 178 | 180 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RNL |
| P15514 | 171 | 221 | 101 | 187 | Chain | ID=PRO_0000007474;Note=Amphiregulin |
| P15514 | 171 | 221 | 172 | 181 | Disulfide bond | Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255|PROSITE-ProRule:PRU00076,ECO:0000269|Ref.14 |
| P15514 | 171 | 221 | 142 | 182 | Domain | Note=EGF-like;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076 |
| P15514 | 171 | 221 | 188 | 252 | Propeptide | ID=PRO_0000007475 |
| P15514 | 171 | 221 | 199 | 221 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for AREG |
| - 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 |
| LIHC | TCGA-BC-A112-01 | exon_skip_424394 | 75314764 | 75314965 | 75314846 | 75314847 | Frame_Shift_Ins | - | A | p.GK131fs |
| - 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 |
| EN_ENDOMETRIUM | 75314764 | 75314965 | 75314879 | 75314880 | Frame_Shift_Ins | - | A | p.K143fs |
| KMS34_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 75314764 | 75314965 | 75314932 | 75314932 | Missense_Mutation | A | G | p.K160R |
| RERFLCAD1_LUNG | 75316097 | 75316249 | 75316129 | 75316129 | Missense_Mutation | G | A | p.G182E |
| A2058_SKIN | 75316097 | 75316249 | 75316188 | 75316188 | Missense_Mutation | G | C | p.A202P |
| OC314_OVARY | 75318261 | 75318372 | 75318277 | 75318277 | Missense_Mutation | G | A | p.V228I |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for AREG |
| 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 AREG |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for AREG |
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RelatedDrugs for AREG |
| 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 AREG |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| AREG | C0038356 | Stomach Neoplasms | 3 | CTD_human |
| AREG | C0007131 | Non-Small Cell Lung Carcinoma | 2 | CTD_human |
| AREG | C0004096 | Asthma | 1 | CTD_human |
| AREG | C0007137 | Squamous cell carcinoma | 1 | CTD_human |
| AREG | C0014175 | Endometriosis | 1 | CTD_human |
| AREG | C0018671 | Head and Neck Neoplasms | 1 | CTD_human |
| AREG | C0034069 | Pulmonary Fibrosis | 1 | CTD_human |
| AREG | C0151744 | Myocardial Ischemia | 1 | CTD_human |
| AREG | C0162568 | Erythropoietic Protoporphyria | 1 | CTD_human |
| AREG | C0919267 | ovarian neoplasm | 1 | CTD_human |
| AREG | C1458155 | Mammary Neoplasms | 1 | CTD_human |
| AREG | C3495559 | Juvenile arthritis | 1 | CTD_human |
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