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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 EDN2 |
 Gene summary |
| Gene information | Gene symbol | EDN2 | Gene ID | 1907 |
| Gene name | endothelin 2 | |
| Synonyms | ET-2|ET2|PPET2 | |
| Cytomap | 1p34.2 | |
| Type of gene | protein-coding | |
| Description | endothelin-2preproendothelin 2 | |
| Modification date | 20180329 | |
| UniProtAcc | P20800 | |
| Context | PubMed: EDN2 [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 |
| EDN2 | GO:0001516 | prostaglandin biosynthetic process | 9492062 |
| EDN2 | GO:0002690 | positive regulation of leukocyte chemotaxis | 9696419 |
| EDN2 | GO:0003100 | regulation of systemic arterial blood pressure by endothelin | 2649896 |
| EDN2 | GO:0007204 | positive regulation of cytosolic calcium ion concentration | 1917960 |
| EDN2 | GO:0008284 | positive regulation of cell proliferation | 1917960 |
| EDN2 | GO:0010460 | positive regulation of heart rate | 2649896 |
| EDN2 | GO:0014824 | artery smooth muscle contraction | 8982507 |
| EDN2 | GO:0014826 | vein smooth muscle contraction | 8982507|9422810 |
| EDN2 | GO:0019221 | cytokine-mediated signaling pathway | 12207323 |
| EDN2 | GO:0019722 | calcium-mediated signaling | 1917960 |
| EDN2 | GO:0030593 | neutrophil chemotaxis | 9696419 |
| EDN2 | GO:0042116 | macrophage activation | 12207323 |
| EDN2 | GO:0042310 | vasoconstriction | 2649896|8982507 |
| EDN2 | GO:0048016 | inositol phosphate-mediated signaling | 1917960 |
| EDN2 | GO:0048246 | macrophage chemotaxis | 12207323 |
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Exon skipping events across known transcript of Ensembl for EDN2 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 EDN2 |
| 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 EDN2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_25539 | 1 | 41945124:41945173:41946371:41946546:41946765:41946864 | 41946371:41946546 | ENSG00000127129.5 | ENST00000460255.1 |
| exon_skip_25545 | 1 | 41945124:41945173:41946765:41946864:41948136:41948255 | 41946765:41946864 | ENSG00000127129.5 | ENST00000372587.4,ENST00000490783.1,ENST00000467872.1 |
| exon_skip_25552 | 1 | 41946371:41946546:41946765:41946864:41948136:41948259 | 41946765:41946864 | ENSG00000127129.5 | ENST00000460255.1 |
| exon_skip_25555 | 1 | 41946765:41946864:41948136:41948259:41949717:41949756 | 41948136:41948259 | ENSG00000127129.5 | ENST00000372587.4,ENST00000490783.1,ENST00000460255.1 |
| exon_skip_25561 | 1 | 41948136:41948259:41948580:41948749:41949420:41949472 | 41948580:41948749 | ENSG00000127129.5 | ENST00000467046.1 |
| exon_skip_25564 | 1 | 41948136:41948259:41949420:41949472:41949717:41949756 | 41949420:41949472 | ENSG00000127129.5 | ENST00000467872.1 |
| exon_skip_25565 | 1 | 41948580:41948749:41949420:41949472:41949717:41949756 | 41949420:41949472 | ENSG00000127129.5 | ENST00000467046.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for EDN2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_25539 | 1 | 41945124:41945173:41946371:41946546:41946765:41946864 | 41946371:41946546 | ENSG00000127129.5 | ENST00000460255.1 |
| exon_skip_25545 | 1 | 41945124:41945173:41946765:41946864:41948136:41948255 | 41946765:41946864 | ENSG00000127129.5 | ENST00000372587.4,ENST00000490783.1,ENST00000467872.1 |
| exon_skip_25552 | 1 | 41946371:41946546:41946765:41946864:41948136:41948259 | 41946765:41946864 | ENSG00000127129.5 | ENST00000460255.1 |
| exon_skip_25555 | 1 | 41946765:41946864:41948136:41948259:41949717:41949756 | 41948136:41948259 | ENSG00000127129.5 | ENST00000372587.4,ENST00000490783.1,ENST00000460255.1 |
| exon_skip_25561 | 1 | 41948136:41948259:41948580:41948749:41949420:41949472 | 41948580:41948749 | ENSG00000127129.5 | ENST00000467046.1 |
| exon_skip_25564 | 1 | 41948136:41948259:41949420:41949472:41949717:41949756 | 41949420:41949472 | ENSG00000127129.5 | ENST00000467872.1 |
| exon_skip_25565 | 1 | 41948580:41948749:41949420:41949472:41949717:41949756 | 41949420:41949472 | ENSG00000127129.5 | ENST00000467046.1 |
| 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 EDN2 |
| 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 |
| ENST00000372587 | 41946765 | 41946864 | In-frame |
| ENST00000372587 | 41948136 | 41948259 | 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 |
| ENST00000372587 | 41946765 | 41946864 | In-frame |
| ENST00000372587 | 41948136 | 41948259 | In-frame |
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Infer the effects of exon skipping event on protein functional features for EDN2 |
| 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 |
| ENST00000372587 | 1258 | 178 | 41948136 | 41948259 | 292 | 414 | 74 | 114 |
| ENST00000372587 | 1258 | 178 | 41946765 | 41946864 | 415 | 513 | 115 | 147 |
| 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 |
| ENST00000372587 | 1258 | 178 | 41948136 | 41948259 | 292 | 414 | 74 | 114 |
| ENST00000372587 | 1258 | 178 | 41946765 | 41946864 | 415 | 513 | 115 | 147 |
| 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 |
| P20800 | 74 | 114 | 70 | 178 | Propeptide | ID=PRO_0000008095 |
| P20800 | 74 | 114 | 96 | 111 | Region | Note=Endothelin-like |
| P20800 | 115 | 147 | 131 | 131 | Natural variant | ID=VAR_033914;Note=F->L;Dbxref=dbSNP:rs5798 |
| P20800 | 115 | 147 | 70 | 178 | Propeptide | ID=PRO_0000008095 |
| 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 |
| P20800 | 74 | 114 | 70 | 178 | Propeptide | ID=PRO_0000008095 |
| P20800 | 74 | 114 | 96 | 111 | Region | Note=Endothelin-like |
| P20800 | 115 | 147 | 131 | 131 | Natural variant | ID=VAR_033914;Note=F->L;Dbxref=dbSNP:rs5798 |
| P20800 | 115 | 147 | 70 | 178 | Propeptide | ID=PRO_0000008095 |
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SNVs in the skipped exons for EDN2 |
| - 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-DD-A3A0-01 | exon_skip_25545 exon_skip_25552 | 41946766 | 41946864 | 41946773 | 41946773 | Frame_Shift_Del | T | - | p.R146fs |
| - 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 |
| OVMANA_OVARY | 41946766 | 41946864 | 41946851 | 41946851 | Missense_Mutation | C | A | p.A120S |
| ANGMCSS_CENTRAL_NERVOUS_SYSTEM | 41948137 | 41948259 | 41948180 | 41948180 | Missense_Mutation | C | A | p.A101S |
| CFPAC1_PANCREAS | 41948137 | 41948259 | 41948180 | 41948180 | Missense_Mutation | C | A | p.A101S |
| WM88_SKIN | 41948137 | 41948259 | 41948249 | 41948249 | Missense_Mutation | G | A | p.P78S |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for EDN2 |
| 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 EDN2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for EDN2 |
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RelatedDrugs for EDN2 |
| 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 EDN2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| EDN2 | C0020649 | Hypotension | 1 | CTD_human |
| EDN2 | C0428977 | Bradycardia | 1 | CTD_human |
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