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Gene: ACE2 |
Gene summary for ACE2 |
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Gene information | Species | Human | Gene symbol | ACE2 | Gene ID | 59272 |
Gene name | angiotensin converting enzyme 2 | |
Gene Alias | ACEH | |
Cytomap | Xp22.2 | |
Gene Type | protein-coding | GO ID | GO:0001816 | UniProtAcc | Q9BYF1 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
59272 | ACE2 | Pat01-B | Human | Stomach | GC | 8.03e-44 | 8.31e-01 | 0.5754 |
59272 | ACE2 | Pat03-B | Human | Stomach | GC | 8.66e-31 | 6.63e-01 | 0.3693 |
59272 | ACE2 | SIM_1 | Human | Stomach | SIM | 3.46e-03 | 2.45e-01 | 0.3573 |
59272 | ACE2 | SIM_4 | Human | Stomach | SIM | 8.17e-07 | 3.36e-01 | 0.2664 |
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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:00425938 | Breast | Precancer | glucose homeostasis | 31/1080 | 258/18723 | 8.89e-05 | 1.69e-03 | 31 |
GO:00335008 | Breast | Precancer | carbohydrate homeostasis | 31/1080 | 259/18723 | 9.56e-05 | 1.79e-03 | 31 |
GO:00420633 | Breast | Precancer | gliogenesis | 33/1080 | 301/18723 | 3.06e-04 | 4.40e-03 | 33 |
GO:00100013 | Breast | Precancer | glial cell differentiation | 25/1080 | 225/18723 | 1.29e-03 | 1.37e-02 | 25 |
GO:00516047 | Breast | Precancer | protein maturation | 28/1080 | 294/18723 | 6.45e-03 | 4.50e-02 | 28 |
GO:0048708 | Breast | Precancer | astrocyte differentiation | 11/1080 | 81/18723 | 6.65e-03 | 4.57e-02 | 11 |
GO:0021782 | Breast | Precancer | glial cell development | 14/1080 | 116/18723 | 6.92e-03 | 4.67e-02 | 14 |
GO:004206311 | Breast | IDC | gliogenesis | 39/1434 | 301/18723 | 8.63e-04 | 1.00e-02 | 39 |
GO:00100011 | Breast | IDC | glial cell differentiation | 31/1434 | 225/18723 | 1.04e-03 | 1.15e-02 | 31 |
GO:004259313 | Breast | IDC | glucose homeostasis | 34/1434 | 258/18723 | 1.34e-03 | 1.39e-02 | 34 |
GO:003350013 | Breast | IDC | carbohydrate homeostasis | 34/1434 | 259/18723 | 1.43e-03 | 1.46e-02 | 34 |
GO:005160413 | Breast | IDC | protein maturation | 35/1434 | 294/18723 | 6.18e-03 | 4.40e-02 | 35 |
GO:00420632 | Breast | DCIS | gliogenesis | 39/1390 | 301/18723 | 4.76e-04 | 6.25e-03 | 39 |
GO:00100012 | Breast | DCIS | glial cell differentiation | 31/1390 | 225/18723 | 6.24e-04 | 7.87e-03 | 31 |
GO:004259323 | Breast | DCIS | glucose homeostasis | 34/1390 | 258/18723 | 7.87e-04 | 9.11e-03 | 34 |
GO:003350023 | Breast | DCIS | carbohydrate homeostasis | 34/1390 | 259/18723 | 8.43e-04 | 9.58e-03 | 34 |
GO:005160422 | Breast | DCIS | protein maturation | 34/1390 | 294/18723 | 6.72e-03 | 4.66e-02 | 34 |
GO:0033500 | Colorectum | AD | carbohydrate homeostasis | 84/3918 | 259/18723 | 9.10e-06 | 2.15e-04 | 84 |
GO:0042593 | Colorectum | AD | glucose homeostasis | 83/3918 | 258/18723 | 1.44e-05 | 3.11e-04 | 83 |
GO:0051604 | Colorectum | AD | protein maturation | 85/3918 | 294/18723 | 6.73e-04 | 6.91e-03 | 85 |
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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 |
ACE2 | SNV | Missense_Mutation | c.1125N>T | p.Glu375Asp | p.E375D | Q9BYF1 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-D1-A17Q-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
ACE2 | SNV | Missense_Mutation | rs140016715 | c.2302N>T | p.Arg768Trp | p.R768W | Q9BYF1 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.995) | TCGA-E6-A1LX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ACE2 | SNV | Missense_Mutation | novel | c.1733A>G | p.Asn578Ser | p.N578S | Q9BYF1 | protein_coding | tolerated(0.35) | benign(0.003) | TCGA-EO-A22R-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ACE2 | SNV | Missense_Mutation | novel | c.1490A>G | p.Tyr497Cys | p.Y497C | Q9BYF1 | protein_coding | tolerated(0.07) | probably_damaging(0.997) | TCGA-EO-A22R-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ACE2 | SNV | Missense_Mutation | rs140016715 | c.2302C>T | p.Arg768Trp | p.R768W | Q9BYF1 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.995) | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ACE2 | SNV | Missense_Mutation | novel | c.1712A>G | p.Glu571Gly | p.E571G | Q9BYF1 | protein_coding | deleterious(0) | possibly_damaging(0.89) | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ACE2 | SNV | Missense_Mutation | novel | c.1178G>T | p.Arg393Ile | p.R393I | Q9BYF1 | protein_coding | deleterious(0) | probably_damaging(0.994) | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ACE2 | SNV | Missense_Mutation | novel | c.343N>T | p.Arg115Trp | p.R115W | Q9BYF1 | protein_coding | deleterious(0) | possibly_damaging(0.848) | TCGA-EY-A5W2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ACE2 | SNV | Missense_Mutation | novel | c.1726N>A | p.Ala576Thr | p.A576T | Q9BYF1 | protein_coding | tolerated(0.59) | benign(0.003) | TCGA-FI-A2D5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatinum | PD |
ACE2 | insertion | Nonsense_Mutation | novel | c.1361_1362insA | p.Tyr454Ter | p.Y454* | Q9BYF1 | protein_coding | TCGA-A5-A0GX-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 |
59272 | ACE2 | ENZYME, TRANSPORTER, DRUGGABLE GENOME, NEUTRAL ZINC METALLOPEPTIDASE, CELL SURFACE, PROTEASE | inhibitor | 223366196 | ORE-1001 | |
59272 | ACE2 | ENZYME, TRANSPORTER, DRUGGABLE GENOME, NEUTRAL ZINC METALLOPEPTIDASE, CELL SURFACE, PROTEASE | GL1001 | ORE-1001 | ||
59272 | ACE2 | ENZYME, TRANSPORTER, DRUGGABLE GENOME, NEUTRAL ZINC METALLOPEPTIDASE, CELL SURFACE, PROTEASE | GSK2586881 | GSK-2586881 | 25893478 | |
59272 | ACE2 | ENZYME, TRANSPORTER, DRUGGABLE GENOME, NEUTRAL ZINC METALLOPEPTIDASE, CELL SURFACE, PROTEASE | ORE-1001 | ORE-1001 | ||
59272 | ACE2 | ENZYME, TRANSPORTER, DRUGGABLE GENOME, NEUTRAL ZINC METALLOPEPTIDASE, CELL SURFACE, PROTEASE | inhibitor | 178103169 | ||
59272 | ACE2 | ENZYME, TRANSPORTER, DRUGGABLE GENOME, NEUTRAL ZINC METALLOPEPTIDASE, CELL SURFACE, PROTEASE | activator | 223366197 | ||
59272 | ACE2 | ENZYME, TRANSPORTER, DRUGGABLE GENOME, NEUTRAL ZINC METALLOPEPTIDASE, CELL SURFACE, PROTEASE | LISINOPRIL | LISINOPRIL | ||
59272 | ACE2 | ENZYME, TRANSPORTER, DRUGGABLE GENOME, NEUTRAL ZINC METALLOPEPTIDASE, CELL SURFACE, PROTEASE | 178101824 | |||
59272 | ACE2 | ENZYME, TRANSPORTER, DRUGGABLE GENOME, NEUTRAL ZINC METALLOPEPTIDASE, CELL SURFACE, PROTEASE | captopril | CAPTOPRIL | 17473847 |
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