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Gene: ECE1 |
Gene summary for ECE1 |
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Gene information | Species | Human | Gene symbol | ECE1 | Gene ID | 1889 |
Gene name | endothelin converting enzyme 1 | |
Gene Alias | ECE | |
Cytomap | 1p36.12 | |
Gene Type | protein-coding | GO ID | GO:0001881 | UniProtAcc | A0A024RAB0 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
1889 | ECE1 | CCI_2 | Human | Cervix | CC | 3.53e-03 | 6.37e-01 | 0.5249 |
1889 | ECE1 | CCI_3 | Human | Cervix | CC | 1.90e-05 | 6.20e-01 | 0.516 |
1889 | ECE1 | sample3 | Human | Cervix | CC | 7.75e-03 | 1.51e-01 | 0.1387 |
1889 | ECE1 | HTA11_2487_2000001011 | Human | Colorectum | SER | 4.25e-02 | 4.47e-01 | -0.1808 |
1889 | ECE1 | HTA11_347_2000001011 | Human | Colorectum | AD | 1.71e-11 | 5.63e-01 | -0.1954 |
1889 | ECE1 | HTA11_2112_2000001011 | Human | Colorectum | SER | 3.47e-03 | 7.57e-01 | -0.2196 |
1889 | ECE1 | HTA11_696_2000001011 | Human | Colorectum | AD | 4.81e-06 | 5.18e-01 | -0.1464 |
1889 | ECE1 | HTA11_866_2000001011 | Human | Colorectum | AD | 1.74e-03 | 3.02e-01 | -0.1001 |
1889 | ECE1 | HTA11_1391_2000001011 | Human | Colorectum | AD | 4.98e-05 | 4.23e-01 | -0.059 |
1889 | ECE1 | HTA11_2992_2000001011 | Human | Colorectum | SER | 4.63e-02 | 6.76e-01 | -0.1706 |
1889 | ECE1 | A002-C-010 | Human | Colorectum | FAP | 2.96e-05 | -2.68e-01 | 0.242 |
1889 | ECE1 | A015-C-203 | Human | Colorectum | FAP | 2.18e-11 | -3.07e-01 | -0.1294 |
1889 | ECE1 | A002-C-201 | Human | Colorectum | FAP | 9.47e-05 | -2.26e-01 | 0.0324 |
1889 | ECE1 | A002-C-203 | Human | Colorectum | FAP | 1.94e-02 | -2.42e-01 | 0.2786 |
1889 | ECE1 | A001-C-108 | Human | Colorectum | FAP | 4.31e-07 | -1.91e-01 | -0.0272 |
1889 | ECE1 | A002-C-205 | Human | Colorectum | FAP | 3.51e-10 | -3.11e-01 | -0.1236 |
1889 | ECE1 | A015-C-006 | Human | Colorectum | FAP | 8.43e-07 | -3.37e-01 | -0.0994 |
1889 | ECE1 | A015-C-106 | Human | Colorectum | FAP | 2.04e-04 | -1.88e-01 | -0.0511 |
1889 | ECE1 | A002-C-114 | Human | Colorectum | FAP | 7.92e-07 | -2.55e-01 | -0.1561 |
1889 | ECE1 | A015-C-104 | Human | Colorectum | FAP | 1.39e-13 | -2.54e-01 | -0.1899 |
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∗log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage. |
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Malignant transformation related pathway analysis |
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Tissue | Disease Stage | Enriched GO biological Processes |
Colorectum | AD | ![]() |
Colorectum | SER | ![]() |
Colorectum | MSS | ![]() |
Colorectum | MSI-H | ![]() |
Colorectum | FAP | ![]() |
∗Top 15 enriched GO BP terms are showed in the bar plot of each disease state in each tissue. Each row represents a significant GO biological process which is colored according to the -log10(p.adjust). |
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GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00431127 | Cervix | CC | receptor metabolic process | 37/2311 | 166/18723 | 2.31e-04 | 2.58e-03 | 37 |
GO:00516048 | Cervix | CC | protein maturation | 56/2311 | 294/18723 | 5.90e-04 | 5.59e-03 | 56 |
GO:00487365 | Cervix | CC | appendage development | 35/2311 | 172/18723 | 1.88e-03 | 1.39e-02 | 35 |
GO:00601735 | Cervix | CC | limb development | 35/2311 | 172/18723 | 1.88e-03 | 1.39e-02 | 35 |
GO:0043112 | Colorectum | AD | receptor metabolic process | 62/3918 | 166/18723 | 8.18e-07 | 2.85e-05 | 62 |
GO:0001881 | Colorectum | AD | receptor recycling | 18/3918 | 33/18723 | 2.23e-05 | 4.40e-04 | 18 |
GO:0051604 | Colorectum | AD | protein maturation | 85/3918 | 294/18723 | 6.73e-04 | 6.91e-03 | 85 |
GO:0001919 | Colorectum | AD | regulation of receptor recycling | 12/3918 | 23/18723 | 9.11e-04 | 8.71e-03 | 12 |
GO:0048736 | Colorectum | AD | appendage development | 51/3918 | 172/18723 | 4.20e-03 | 2.89e-02 | 51 |
GO:0060173 | Colorectum | AD | limb development | 51/3918 | 172/18723 | 4.20e-03 | 2.89e-02 | 51 |
GO:0016485 | Colorectum | AD | protein processing | 63/3918 | 225/18723 | 6.77e-03 | 4.19e-02 | 63 |
GO:00516041 | Colorectum | SER | protein maturation | 73/2897 | 294/18723 | 1.82e-05 | 5.38e-04 | 73 |
GO:00164851 | Colorectum | SER | protein processing | 55/2897 | 225/18723 | 2.84e-04 | 4.67e-03 | 55 |
GO:00487361 | Colorectum | SER | appendage development | 42/2897 | 172/18723 | 1.43e-03 | 1.55e-02 | 42 |
GO:00601731 | Colorectum | SER | limb development | 42/2897 | 172/18723 | 1.43e-03 | 1.55e-02 | 42 |
GO:0035107 | Colorectum | SER | appendage morphogenesis | 33/2897 | 138/18723 | 6.10e-03 | 4.42e-02 | 33 |
GO:0035108 | Colorectum | SER | limb morphogenesis | 33/2897 | 138/18723 | 6.10e-03 | 4.42e-02 | 33 |
GO:00431122 | Colorectum | FAP | receptor metabolic process | 46/2622 | 166/18723 | 2.70e-06 | 1.02e-04 | 46 |
GO:00351071 | Colorectum | FAP | appendage morphogenesis | 35/2622 | 138/18723 | 2.74e-04 | 3.66e-03 | 35 |
GO:00351081 | Colorectum | FAP | limb morphogenesis | 35/2622 | 138/18723 | 2.74e-04 | 3.66e-03 | 35 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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Cell-cell communication analysis |
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Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
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Single-cell gene regulatory network inference analysis |
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TF | Cell Type | Tissue | Disease Stage | Target Gene | RSS | Regulon Activity |
∗The dot plots of a searched regulon are shown for all cell subpopulations in each disease state of each tissue based on the regulon specific score inferred using pySCENIC and by calculating the average expression. |
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Somatic mutation of malignant transformation related genes |
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Hugo Symbol | Variant Class | Variant Classification | dbSNP RS | HGVSc | HGVSp | HGVSp Short | SWISSPROT | BIOTYPE | SIFT | PolyPhen | Tumor Sample Barcode | Tissue | Histology | Sex | Age | Stage | Therapy Types | Drugs | Outcome |
ECE1 | SNV | Missense_Mutation | rs778625647 | c.971G>A | p.Arg324His | p.R324H | P42892 | protein_coding | deleterious(0.03) | benign(0.33) | TCGA-B5-A3FC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ECE1 | SNV | Missense_Mutation | rs140735120 | c.1469N>A | p.Arg490Gln | p.R490Q | P42892 | protein_coding | deleterious(0.01) | possibly_damaging(0.589) | TCGA-BS-A0TJ-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ECE1 | SNV | Missense_Mutation | c.1814N>C | p.Val605Ala | p.V605A | P42892 | protein_coding | deleterious(0) | possibly_damaging(0.492) | TCGA-BS-A0UJ-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
ECE1 | SNV | Missense_Mutation | c.1226N>A | p.Arg409His | p.R409H | P42892 | protein_coding | tolerated(0.05) | possibly_damaging(0.88) | TCGA-BS-A0UV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD | |
ECE1 | SNV | Missense_Mutation | rs199666282 | c.185G>A | p.Arg62Gln | p.R62Q | P42892 | protein_coding | deleterious(0.01) | possibly_damaging(0.579) | TCGA-D1-A0ZO-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ECE1 | SNV | Missense_Mutation | c.941T>C | p.Leu314Pro | p.L314P | P42892 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-D1-A0ZS-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
ECE1 | SNV | Missense_Mutation | novel | c.1001N>C | p.Val334Ala | p.V334A | P42892 | protein_coding | deleterious(0.01) | possibly_damaging(0.514) | TCGA-DI-A1BU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | paclitaxel | SD |
ECE1 | SNV | Missense_Mutation | novel | c.1012N>A | p.Glu338Lys | p.E338K | P42892 | protein_coding | deleterious(0.04) | benign(0.099) | TCGA-EO-A22R-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ECE1 | SNV | Missense_Mutation | novel | c.695N>A | p.Arg232His | p.R232H | P42892 | protein_coding | tolerated(0.11) | benign(0.029) | TCGA-EO-A22R-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ECE1 | SNV | Missense_Mutation | novel | c.813N>C | p.Lys271Asn | p.K271N | P42892 | protein_coding | deleterious(0.01) | benign(0.073) | TCGA-EY-A1GD-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
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Related drugs of malignant transformation related genes |
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(DGIdb 4.0) |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
1889 | ECE1 | DRUGGABLE GENOME, ENZYME, EXTERNAL SIDE OF PLASMA MEMBRANE, PROTEASE | inhibitor | 178103120 | DAGLUTRIL | |
1889 | ECE1 | DRUGGABLE GENOME, ENZYME, EXTERNAL SIDE OF PLASMA MEMBRANE, PROTEASE | SLV 306 | |||
1889 | ECE1 | DRUGGABLE GENOME, ENZYME, EXTERNAL SIDE OF PLASMA MEMBRANE, PROTEASE | SLV-338 | |||
1889 | ECE1 | DRUGGABLE GENOME, ENZYME, EXTERNAL SIDE OF PLASMA MEMBRANE, PROTEASE | inhibitor | 178103121 | ||
1889 | ECE1 | DRUGGABLE GENOME, ENZYME, EXTERNAL SIDE OF PLASMA MEMBRANE, PROTEASE | inhibitor | 252166818 | ||
1889 | ECE1 | DRUGGABLE GENOME, ENZYME, EXTERNAL SIDE OF PLASMA MEMBRANE, PROTEASE | SLV-334 | SLV-334 | ||
1889 | ECE1 | DRUGGABLE GENOME, ENZYME, EXTERNAL SIDE OF PLASMA MEMBRANE, PROTEASE | inhibitor | 178103176 |
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