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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 | novel | c.100C>A | p.His34Asn | p.H34N | Q9BYF1 | protein_coding | tolerated(0.35) | benign(0) | TCGA-99-7458-01 | Lung | lung adenocarcinoma | Female | >=65 | III/IV | Targeted Molecular therapy | tarceva | SD |
ACE2 | SNV | Missense_Mutation | c.1471N>T | p.Val491Leu | p.V491L | Q9BYF1 | protein_coding | tolerated(0.27) | benign(0.024) | TCGA-22-1016-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
ACE2 | SNV | Missense_Mutation | c.440N>T | p.Gly147Val | p.G147V | Q9BYF1 | protein_coding | deleterious(0) | probably_damaging(0.966) | TCGA-39-5035-01 | Lung | lung squamous cell carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
ACE2 | SNV | Missense_Mutation | novel | c.1184N>T | p.Gly395Val | p.G395V | Q9BYF1 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-56-7731-01 | Lung | lung squamous cell carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ACE2 | SNV | Missense_Mutation | novel | c.1429T>C | p.Trp477Arg | p.W477R | Q9BYF1 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-92-7341-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
ACE2 | insertion | Frame_Shift_Ins | novel | c.1897_1898insT | p.Tyr633LeufsTer2 | p.Y633Lfs*2 | Q9BYF1 | protein_coding | TCGA-33-4587-01 | Lung | lung squamous cell carcinoma | Female | <65 | I/II | Chemotherapy | etoposide | PD | ||
ACE2 | SNV | Missense_Mutation | novel | c.886N>A | p.Ala296Thr | p.A296T | Q9BYF1 | protein_coding | tolerated(0.36) | benign(0.012) | TCGA-BA-A6DA-01 | Oral cavity | head & neck squamous cell carcinoma | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
ACE2 | SNV | Missense_Mutation | novel | c.2082C>G | p.Ile694Met | p.I694M | Q9BYF1 | protein_coding | deleterious_low_confidence(0.02) | benign(0.02) | TCGA-CR-6484-01 | Oral cavity | head & neck squamous cell carcinoma | Female | >=65 | I/II | Chemotherapy | carboplatin | SD |
ACE2 | SNV | Missense_Mutation | novel | c.1418N>T | p.Trp473Leu | p.W473L | Q9BYF1 | protein_coding | deleterious(0.03) | probably_damaging(0.917) | TCGA-QK-A8Z8-01 | Oral cavity | head & neck squamous cell carcinoma | Female | <65 | I/II | Chemotherapy | docetaxel | PD |
ACE2 | SNV | Missense_Mutation | novel | c.218N>C | p.Leu73Ser | p.L73S | Q9BYF1 | protein_coding | tolerated(0.22) | benign(0.011) | TCGA-UF-A719-01 | Oral cavity | head & neck squamous cell carcinoma | Male | <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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