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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 EDN3 |
 Gene summary |
| Gene information | Gene symbol | EDN3 | Gene ID | 1908 |
| Gene name | endothelin 3 | |
| Synonyms | ET-3|ET3|HSCR4|PPET3|WS4B | |
| Cytomap | 20q13.32 | |
| Type of gene | protein-coding | |
| Description | endothelin-3preproendothelin-3 | |
| Modification date | 20180519 | |
| UniProtAcc | P14138 | |
| Context | PubMed: EDN3 [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 |
| EDN3 | GO:0002690 | positive regulation of leukocyte chemotaxis | 9696419 |
| EDN3 | GO:0003100 | regulation of systemic arterial blood pressure by endothelin | 2649896 |
| EDN3 | GO:0007166 | cell surface receptor signaling pathway | 1713452 |
| EDN3 | GO:0008284 | positive regulation of cell proliferation | 22897442 |
| EDN3 | GO:0010460 | positive regulation of heart rate | 2649896 |
| EDN3 | GO:0014824 | artery smooth muscle contraction | 8982507 |
| EDN3 | GO:0014826 | vein smooth muscle contraction | 8982507 |
| EDN3 | GO:0030072 | peptide hormone secretion | 10770212 |
| EDN3 | GO:0030593 | neutrophil chemotaxis | 9696419 |
| EDN3 | GO:0042310 | vasoconstriction | 2649896|8982507 |
| EDN3 | GO:0043406 | positive regulation of MAP kinase activity | 10770212 |
| EDN3 | GO:0045840 | positive regulation of mitotic nuclear division | 10770212 |
| EDN3 | GO:0046887 | positive regulation of hormone secretion | 10770212 |
| EDN3 | GO:0048016 | inositol phosphate-mediated signaling | 1917960 |
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Exon skipping events across known transcript of Ensembl for EDN3 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 EDN3 |
| 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 EDN3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_353246 | 20 | 57875757:57875919:57876464:57876777:57896071:57896248 | 57876464:57876777 | ENSG00000124205.11 | ENST00000371028.2,ENST00000395654.3,ENST00000371025.3,ENST00000311585.7 |
| exon_skip_353260 | 20 | 57896075:57896248:57897426:57897472:57899385:57899529 | 57897426:57897472 | ENSG00000124205.11 | ENST00000371028.2,ENST00000337938.2 |
| exon_skip_353263 | 20 | 57896075:57896248:57897426:57897507:57899385:57899529 | 57897426:57897507 | ENSG00000124205.11 | ENST00000311585.7 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for EDN3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_353246 | 20 | 57875757:57875919:57876464:57876777:57896071:57896248 | 57876464:57876777 | ENSG00000124205.11 | ENST00000311585.7,ENST00000371028.2,ENST00000371025.3,ENST00000395654.3 |
| exon_skip_353260 | 20 | 57896075:57896248:57897426:57897472:57899385:57899529 | 57897426:57897472 | ENSG00000124205.11 | ENST00000337938.2,ENST00000371028.2 |
| exon_skip_353263 | 20 | 57896075:57896248:57897426:57897507:57899385:57899529 | 57897426:57897507 | ENSG00000124205.11 | ENST00000311585.7 |
| 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 EDN3 |
| 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 |
| ENST00000371028 | 57876464 | 57876777 | Frame-shift |
| ENST00000337938 | 57897426 | 57897472 | Frame-shift |
| ENST00000371028 | 57897426 | 57897472 | Frame-shift |
| 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 |
| ENST00000371028 | 57876464 | 57876777 | Frame-shift |
| ENST00000337938 | 57897426 | 57897472 | Frame-shift |
| ENST00000371028 | 57897426 | 57897472 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for EDN3 |
| 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 EDN3 |
| - 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_353246 | 57876465 | 57876777 | 57876519 | 57876519 | Frame_Shift_Del | C | - | p.A36fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_353263 | 57897427 | 57897507 | 57897501 | 57897501 | Frame_Shift_Del | A | - | p.Q206fs |
| STAD | TCGA-BR-6852-01 | exon_skip_353260 | 57897427 | 57897472 | 57897444 | 57897445 | Frame_Shift_Ins | - | A | p.E187fs |
| STAD | TCGA-BR-6852-01 | exon_skip_353263 | 57897427 | 57897507 | 57897444 | 57897445 | Frame_Shift_Ins | - | A | p.E187fs |
| STAD | TCGA-BR-8360-01 | exon_skip_353260 | 57897427 | 57897472 | 57897444 | 57897445 | Frame_Shift_Ins | - | A | p.E187fs |
| STAD | TCGA-BR-8360-01 | exon_skip_353263 | 57897427 | 57897507 | 57897444 | 57897445 | Frame_Shift_Ins | - | A | p.E187fs |
| SKCM | TCGA-EE-A2ML-06 | exon_skip_353246 | 57876465 | 57876777 | 57876515 | 57876515 | Nonsense_Mutation | C | T | p.Q35* |
| SKCM | TCGA-EE-A183-06 | exon_skip_353246 | 57876465 | 57876777 | 57876762 | 57876762 | Nonsense_Mutation | G | A | p.W117* |
| SKCM | TCGA-EE-A183-06 | exon_skip_353246 | 57876465 | 57876777 | 57876762 | 57876762 | Nonsense_Mutation | G | A | p.W117X |
| - 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 |
| HEC59_ENDOMETRIUM | 57876465 | 57876777 | 57876470 | 57876470 | Missense_Mutation | G | A | p.V20M |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 57876465 | 57876777 | 57876503 | 57876503 | Missense_Mutation | C | T | p.R31C |
| HCT15_LARGE_INTESTINE | 57876465 | 57876777 | 57876591 | 57876591 | Missense_Mutation | G | A | p.G60D |
| HCC1395_BREAST | 57876465 | 57876777 | 57876602 | 57876602 | Missense_Mutation | G | T | p.G64W |
| NCIH630_LARGE_INTESTINE | 57876465 | 57876777 | 57876609 | 57876609 | Missense_Mutation | T | C | p.V66A |
| SISO_CERVIX | 57876465 | 57876777 | 57876624 | 57876624 | Missense_Mutation | T | G | p.L71R |
| GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 57876465 | 57876777 | 57876624 | 57876624 | Missense_Mutation | T | G | p.L71R |
| NTERA2CLD1_TESTIS | 57876465 | 57876777 | 57876663 | 57876663 | Missense_Mutation | C | T | p.A84V |
| HEC6_ENDOMETRIUM | 57876465 | 57876777 | 57876674 | 57876674 | Missense_Mutation | G | A | p.A88T |
| REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 57876465 | 57876777 | 57876752 | 57876752 | Missense_Mutation | G | A | p.D114N |
| SNU423_LIVER | 57876465 | 57876777 | 57876754 | 57876754 | Missense_Mutation | C | A | p.D114E |
| NCIH211_LUNG | 57897427 | 57897472 | 57897435 | 57897435 | Missense_Mutation | G | T | p.R184M |
| NCIH211_LUNG | 57897427 | 57897507 | 57897435 | 57897435 | Missense_Mutation | G | T | p.R184M |
| NCIH146_LUNG | 57897427 | 57897472 | 57897450 | 57897450 | Missense_Mutation | C | T | p.T189I |
| NCIH146_LUNG | 57897427 | 57897507 | 57897450 | 57897450 | Missense_Mutation | C | T | p.T189I |
| SNU1_STOMACH | 57897427 | 57897472 | 57897468 | 57897468 | Missense_Mutation | G | A | p.G195E |
| SNU1_STOMACH | 57897427 | 57897507 | 57897468 | 57897468 | Missense_Mutation | G | A | p.G195E |
| NCIH1373_LUNG | 57876465 | 57876777 | 57876718 | 57876718 | Nonsense_Mutation | C | A | p.Y102* |
| LI7_LIVER | 57897427 | 57897472 | 57897472 | 57897472 | Splice_Site | G | T | p.K196N |
| LI7_LIVER | 57897427 | 57897507 | 57897472 | 57897472 | Splice_Site | G | T | p.K196N |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for EDN3 |
| 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 EDN3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for EDN3 |
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RelatedDrugs for EDN3 |
| 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 EDN3 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| EDN3 | C0019569 | Hirschsprung Disease | 4 | CTD_human;HPO;ORPHANET |
| EDN3 | C1848519 | WAARDENBURG SYNDROME, TYPE 4A | 3 | CTD_human;ORPHANET |
| EDN3 | C0020649 | Hypotension | 2 | CTD_human |
| EDN3 | C2750457 | Waardenburg Syndrome, Type 4b | 2 | CTD_human;UNIPROT |
| EDN3 | C0020538 | Hypertensive disease | 1 | CTD_human |
| EDN3 | C0428977 | Bradycardia | 1 | CTD_human |
| EDN3 | C1275808 | Congenital central hypoventilation | 1 | CTD_human;ORPHANET |
| EDN3 | C3150975 | HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 4 | 1 | UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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