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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 ECE1 |
 Gene summary |
| Gene information | Gene symbol | ECE1 | Gene ID | 1889 |
| Gene name | endothelin converting enzyme 1 | |
| Synonyms | ECE | |
| Cytomap | 1p36.12 | |
| Type of gene | protein-coding | |
| Description | endothelin-converting enzyme 1ECE-1 | |
| Modification date | 20180519 | |
| UniProtAcc | P42892 | |
| Context | PubMed: ECE1 [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 |
| ECE1 | GO:0010814 | substance P catabolic process | 18039931 |
| ECE1 | GO:0010815 | bradykinin catabolic process | 18039931 |
| ECE1 | GO:0010816 | calcitonin catabolic process | 18039931 |
| ECE1 | GO:0016485 | protein processing | 7805846 |
| ECE1 | GO:0016486 | peptide hormone processing | 7864876 |
| ECE1 | GO:0034959 | endothelin maturation | 7805846 |
| ECE1 | GO:0042447 | hormone catabolic process | 7864876 |
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Exon skipping events across known transcript of Ensembl for ECE1 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 ECE1 |
| 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 ECE1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_22816 | 1 | 21546451:21546624:21548239:21548335:21551742:21551933 | 21548239:21548335 | ENSG00000117298.10 | ENST00000264205.6,ENST00000374893.6,ENST00000357071.4,ENST00000415912.2 |
| exon_skip_22819 | 1 | 21546451:21546624:21551742:21551933:21553651:21553719 | 21551742:21551933 | ENSG00000117298.10 | ENST00000436918.2 |
| exon_skip_22824 | 1 | 21548239:21548335:21551742:21551933:21553651:21553719 | 21551742:21551933 | ENSG00000117298.10 | ENST00000264205.6,ENST00000374893.6,ENST00000357071.4,ENST00000415912.2 |
| exon_skip_22826 | 1 | 21551847:21551933:21553651:21553719:21554423:21554534 | 21553651:21553719 | ENSG00000117298.10 | ENST00000264205.6,ENST00000374893.6,ENST00000357071.4,ENST00000415912.2,ENST00000436918.2 |
| exon_skip_22829 | 1 | 21554423:21554534:21560050:21560154:21562342:21562420 | 21560050:21560154 | ENSG00000117298.10 | ENST00000264205.6,ENST00000374893.6,ENST00000357071.4,ENST00000415912.2,ENST00000436918.2 |
| exon_skip_22830 | 1 | 21560062:21560154:21562342:21562420:21563238:21563337 | 21562342:21562420 | ENSG00000117298.10 | ENST00000526194.1,ENST00000264205.6,ENST00000470394.1,ENST00000374893.6,ENST00000357071.4,ENST00000415912.2,ENST00000436918.2 |
| exon_skip_22831 | 1 | 21563238:21563337:21564626:21564737:21571481:21571596 | 21564626:21564737 | ENSG00000117298.10 | ENST00000526194.1,ENST00000264205.6,ENST00000374893.6,ENST00000357071.4,ENST00000415912.2,ENST00000436918.2 |
| exon_skip_22832 | 1 | 21564641:21564737:21571481:21571596:21573713:21573856 | 21571481:21571596 | ENSG00000117298.10 | ENST00000526194.1,ENST00000264205.6,ENST00000528294.1,ENST00000374893.6,ENST00000357071.4,ENST00000415912.2,ENST00000436918.2 |
| exon_skip_22835 | 1 | 21571481:21571596:21573713:21573856:21582439:21582598 | 21573713:21573856 | ENSG00000117298.10 | ENST00000526194.1,ENST00000264205.6,ENST00000528294.1,ENST00000374893.6,ENST00000357071.4,ENST00000415912.2,ENST00000436918.2 |
| exon_skip_22838 | 1 | 21573713:21573856:21582439:21582631:21584017:21584083 | 21582439:21582631 | ENSG00000117298.10 | ENST00000526194.1,ENST00000264205.6,ENST00000374893.6,ENST00000357071.4,ENST00000415912.2,ENST00000436918.2 |
| exon_skip_22839 | 1 | 21586805:21586885:21599191:21599404:21605683:21605825 | 21599191:21599404 | ENSG00000117298.10 | ENST00000526194.1,ENST00000264205.6,ENST00000473505.1,ENST00000374893.6,ENST00000357071.4,ENST00000415912.2,ENST00000436918.2 |
| exon_skip_22842 | 1 | 21599327:21599404:21605683:21605825:21616562:21616649 | 21605683:21605825 | ENSG00000117298.10 | ENST00000526194.1,ENST00000264205.6,ENST00000481130.2,ENST00000374893.6,ENST00000463334.2,ENST00000415912.2,ENST00000436918.2,ENST00000527991.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ECE1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_22816 | 1 | 21546451:21546624:21548239:21548335:21551742:21551933 | 21548239:21548335 | ENSG00000117298.10 | ENST00000415912.2,ENST00000357071.4,ENST00000374893.6,ENST00000264205.6 |
| exon_skip_22819 | 1 | 21546451:21546624:21551742:21551933:21553651:21553719 | 21551742:21551933 | ENSG00000117298.10 | ENST00000436918.2 |
| exon_skip_22824 | 1 | 21548239:21548335:21551742:21551933:21553651:21553719 | 21551742:21551933 | ENSG00000117298.10 | ENST00000415912.2,ENST00000357071.4,ENST00000374893.6,ENST00000264205.6 |
| exon_skip_22826 | 1 | 21551847:21551933:21553651:21553719:21554423:21554534 | 21553651:21553719 | ENSG00000117298.10 | ENST00000415912.2,ENST00000357071.4,ENST00000374893.6,ENST00000436918.2,ENST00000264205.6 |
| exon_skip_22829 | 1 | 21554423:21554534:21560050:21560154:21562342:21562420 | 21560050:21560154 | ENSG00000117298.10 | ENST00000415912.2,ENST00000357071.4,ENST00000374893.6,ENST00000436918.2,ENST00000264205.6 |
| exon_skip_22830 | 1 | 21560062:21560154:21562342:21562420:21563238:21563337 | 21562342:21562420 | ENSG00000117298.10 | ENST00000415912.2,ENST00000357071.4,ENST00000374893.6,ENST00000436918.2,ENST00000264205.6,ENST00000526194.1,ENST00000470394.1 |
| exon_skip_22831 | 1 | 21563238:21563337:21564626:21564737:21571481:21571596 | 21564626:21564737 | ENSG00000117298.10 | ENST00000415912.2,ENST00000357071.4,ENST00000374893.6,ENST00000436918.2,ENST00000264205.6,ENST00000526194.1 |
| exon_skip_22832 | 1 | 21564641:21564737:21571481:21571596:21573713:21573856 | 21571481:21571596 | ENSG00000117298.10 | ENST00000415912.2,ENST00000357071.4,ENST00000374893.6,ENST00000436918.2,ENST00000264205.6,ENST00000526194.1,ENST00000528294.1 |
| exon_skip_22835 | 1 | 21571481:21571596:21573713:21573856:21582439:21582598 | 21573713:21573856 | ENSG00000117298.10 | ENST00000415912.2,ENST00000357071.4,ENST00000374893.6,ENST00000436918.2,ENST00000264205.6,ENST00000526194.1,ENST00000528294.1 |
| exon_skip_22838 | 1 | 21573713:21573856:21582439:21582631:21584017:21584083 | 21582439:21582631 | ENSG00000117298.10 | ENST00000415912.2,ENST00000357071.4,ENST00000374893.6,ENST00000436918.2,ENST00000264205.6,ENST00000526194.1 |
| exon_skip_22839 | 1 | 21586805:21586885:21599191:21599404:21605683:21605825 | 21599191:21599404 | ENSG00000117298.10 | ENST00000415912.2,ENST00000357071.4,ENST00000374893.6,ENST00000436918.2,ENST00000264205.6,ENST00000526194.1,ENST00000473505.1 |
| exon_skip_22842 | 1 | 21599327:21599404:21605683:21605825:21616562:21616649 | 21605683:21605825 | ENSG00000117298.10 | ENST00000415912.2,ENST00000374893.6,ENST00000436918.2,ENST00000264205.6,ENST00000526194.1,ENST00000481130.2,ENST00000527991.1,ENST00000463334.2 |
| 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 ECE1 |
| 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 |
| ENST00000374893 | 21551742 | 21551933 | Frame-shift |
| ENST00000374893 | 21553651 | 21553719 | Frame-shift |
| ENST00000374893 | 21560050 | 21560154 | Frame-shift |
| ENST00000374893 | 21571481 | 21571596 | Frame-shift |
| ENST00000374893 | 21573713 | 21573856 | Frame-shift |
| ENST00000374893 | 21605683 | 21605825 | Frame-shift |
| ENST00000374893 | 21548239 | 21548335 | In-frame |
| ENST00000374893 | 21562342 | 21562420 | In-frame |
| ENST00000374893 | 21564626 | 21564737 | In-frame |
| ENST00000374893 | 21582439 | 21582631 | In-frame |
| ENST00000374893 | 21599191 | 21599404 | 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 |
| ENST00000374893 | 21551742 | 21551933 | Frame-shift |
| ENST00000374893 | 21553651 | 21553719 | Frame-shift |
| ENST00000374893 | 21560050 | 21560154 | Frame-shift |
| ENST00000374893 | 21571481 | 21571596 | Frame-shift |
| ENST00000374893 | 21573713 | 21573856 | Frame-shift |
| ENST00000374893 | 21605683 | 21605825 | Frame-shift |
| ENST00000374893 | 21548239 | 21548335 | In-frame |
| ENST00000374893 | 21562342 | 21562420 | In-frame |
| ENST00000374893 | 21564626 | 21564737 | In-frame |
| ENST00000374893 | 21582439 | 21582631 | In-frame |
| ENST00000374893 | 21599191 | 21599404 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ECE1 |
| 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 |
| ENST00000374893 | 2501 | 770 | 21599191 | 21599404 | 356 | 568 | 93 | 164 |
| ENST00000374893 | 2501 | 770 | 21582439 | 21582631 | 904 | 1095 | 276 | 340 |
| ENST00000374893 | 2501 | 770 | 21564626 | 21564737 | 1354 | 1464 | 426 | 463 |
| ENST00000374893 | 2501 | 770 | 21562342 | 21562420 | 1564 | 1641 | 496 | 522 |
| ENST00000374893 | 2501 | 770 | 21548239 | 21548335 | 2116 | 2211 | 680 | 712 |
| 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 |
| ENST00000374893 | 2501 | 770 | 21599191 | 21599404 | 356 | 568 | 93 | 164 |
| ENST00000374893 | 2501 | 770 | 21582439 | 21582631 | 904 | 1095 | 276 | 340 |
| ENST00000374893 | 2501 | 770 | 21564626 | 21564737 | 1354 | 1464 | 426 | 463 |
| ENST00000374893 | 2501 | 770 | 21562342 | 21562420 | 1564 | 1641 | 496 | 522 |
| ENST00000374893 | 2501 | 770 | 21548239 | 21548335 | 2116 | 2211 | 680 | 712 |
| 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 ECE1 |
| - 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-A39Y-01 | exon_skip_22826 | 21553652 | 21553719 | 21553711 | 21553711 | Frame_Shift_Del | T | - | p.N581fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_22831 | 21564627 | 21564737 | 21564641 | 21564641 | Frame_Shift_Del | C | - | p.D443fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_22831 | 21564627 | 21564737 | 21564694 | 21564694 | Frame_Shift_Del | T | - | p.N426fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_22835 | 21573714 | 21573856 | 21573824 | 21573824 | Frame_Shift_Del | A | - | p.F335fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_22839 | 21599192 | 21599404 | 21599244 | 21599244 | Frame_Shift_Del | C | - | p.G131fs |
| UCEC | TCGA-BS-A0TA-01 | exon_skip_22839 | 21599192 | 21599404 | 21599290 | 21599290 | Frame_Shift_Del | C | - | p.G132fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_22842 | 21605684 | 21605825 | 21605807 | 21605807 | Frame_Shift_Del | G | - | p.R37fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_22842 | 21605684 | 21605825 | 21605807 | 21605807 | Frame_Shift_Del | G | - | p.R37fs |
| ACC | TCGA-OR-A5JP-01 | exon_skip_22839 | 21599192 | 21599404 | 21599251 | 21599252 | Frame_Shift_Ins | - | GT | p.L129fs |
| ACC | TCGA-OR-A5JP-01 | exon_skip_22839 | 21599192 | 21599404 | 21599251 | 21599252 | Frame_Shift_Ins | - | GT | p.R133fs |
| ACC | TCGA-OR-A5JP-01 | exon_skip_22839 | 21599192 | 21599404 | 21599251 | 21599252 | Frame_Shift_Ins | - | GT | p.R145fs |
| UCEC | TCGA-B5-A0JY-01 | exon_skip_22819 exon_skip_22824 | 21551743 | 21551933 | 21551890 | 21551890 | Nonsense_Mutation | C | A | p.E91* |
| HNSC | TCGA-CN-4740-01 | exon_skip_22829 | 21560051 | 21560154 | 21560052 | 21560052 | Nonsense_Mutation | G | A | p.Q557* |
| - 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 |
| SW480_LARGE_INTESTINE | 21548240 | 21548335 | 21548274 | 21548274 | Missense_Mutation | G | A | p.T701I |
| SNU1040_LARGE_INTESTINE | 21548240 | 21548335 | 21548292 | 21548292 | Missense_Mutation | A | G | p.L695P |
| LNZ308_CENTRAL_NERVOUS_SYSTEM | 21551743 | 21551933 | 21551762 | 21551762 | Missense_Mutation | C | A | p.G674V |
| A704_KIDNEY | 21551743 | 21551933 | 21551777 | 21551777 | Missense_Mutation | A | G | p.I669T |
| UDSCC2_UPPER_AERODIGESTIVE_TRACT | 21551743 | 21551933 | 21551901 | 21551901 | Missense_Mutation | G | T | p.P628T |
| MOLM16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 21553652 | 21553719 | 21553700 | 21553700 | Missense_Mutation | T | G | p.I601L |
| NCIH810_LUNG | 21562343 | 21562420 | 21562375 | 21562375 | Missense_Mutation | C | T | p.D512N |
| NCIH23_LUNG | 21564627 | 21564737 | 21564637 | 21564637 | Missense_Mutation | C | G | p.S460T |
| NALM19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 21564627 | 21564737 | 21564731 | 21564731 | Missense_Mutation | G | A | p.L429F |
| SNGM_ENDOMETRIUM | 21571482 | 21571596 | 21571534 | 21571534 | Missense_Mutation | C | T | p.R409H |
| MCC13_SKIN | 21571482 | 21571596 | 21571544 | 21571544 | Missense_Mutation | G | A | p.L406F |
| SNU1272_KIDNEY | 21573714 | 21573856 | 21573778 | 21573778 | Missense_Mutation | T | C | p.I367V |
| SNU16_STOMACH | 21582440 | 21582631 | 21582448 | 21582448 | Missense_Mutation | C | T | p.E338K |
| HEC151_ENDOMETRIUM | 21582440 | 21582631 | 21582453 | 21582453 | Missense_Mutation | G | A | p.A336V |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 21582440 | 21582631 | 21582492 | 21582492 | Missense_Mutation | T | C | p.K323R |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 21582440 | 21582631 | 21582556 | 21582556 | Missense_Mutation | G | A | p.P302S |
| HCC1569_BREAST | 21582440 | 21582631 | 21582576 | 21582576 | Missense_Mutation | C | A | p.G295V |
| NCIH292_LUNG | 21582440 | 21582631 | 21582599 | 21582599 | Missense_Mutation | C | A | p.Q287H |
| SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 21599192 | 21599404 | 21599210 | 21599210 | Missense_Mutation | T | C | p.I159V |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 21599192 | 21599404 | 21599314 | 21599314 | Missense_Mutation | T | C | p.D124G |
| COLO792_SKIN | 21605684 | 21605825 | 21605729 | 21605729 | Missense_Mutation | C | T | p.G79R |
| TC32_BONE | 21605684 | 21605825 | 21605753 | 21605753 | Missense_Mutation | C | T | p.V71M |
| CL40_LARGE_INTESTINE | 21605684 | 21605825 | 21605777 | 21605777 | Missense_Mutation | T | C | p.T63A |
| HEC265_ENDOMETRIUM | 21605684 | 21605825 | 21605807 | 21605807 | Missense_Mutation | G | A | p.R53W |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ECE1 |
| 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 ECE1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ECE1 |
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RelatedDrugs for ECE1 |
| 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 ECE1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| ECE1 | C0018798 | Congenital Heart Defects | 2 | CTD_human |
| ECE1 | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 1 | CTD_human |
| ECE1 | C0019569 | Hirschsprung Disease | 1 | CTD_human;HPO;ORPHANET |
| ECE1 | C0020538 | Hypertensive disease | 1 | CTD_human |
| ECE1 | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
| ECE1 | C1145628 | Autonomic nervous system disorders | 1 | CTD_human;HPO |
| ECE1 | C3151237 | Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction | 1 | UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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