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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 ACE2 |
 Gene summary |
| Gene information | Gene symbol | ACE2 | Gene ID | 59272 |
| Gene name | angiotensin I converting enzyme 2 | |
| Synonyms | ACEH | |
| Cytomap | Xp22.2 | |
| Type of gene | protein-coding | |
| Description | angiotensin-converting enzyme 2ACE-related carboxypeptidaseangiotensin I converting enzyme (peptidyl-dipeptidase A) 2angiotensin-converting enzyme homologmetalloprotease MPROT15peptidyl-dipeptidase A | |
| Modification date | 20180527 | |
| UniProtAcc | Q9BYF1 | |
| Context | PubMed: ACE2 [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 |
| ACE2 | GO:0046813 | receptor-mediated virion attachment to host cell | 18343844 |
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Exon skipping events across known transcript of Ensembl for ACE2 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 ACE2 |
| 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 ACE2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_514044 | X | 15588417:15588476:15589746:15589919:15590323:15590446 | 15589746:15589919 | ENSG00000130234.6 | ENST00000252519.3,ENST00000427411.1 |
| exon_skip_514045 | X | 15590323:15590446:15591489:15591588:15593788:15593933 | 15591489:15591588 | ENSG00000130234.6 | ENST00000252519.3,ENST00000427411.1 |
| exon_skip_514046 | X | 15607466:15607579:15609835:15609979:15610351:15610445 | 15609835:15609979 | ENSG00000130234.6 | ENST00000252519.3,ENST00000427411.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ACE2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_514044 | X | 15588417:15588476:15589746:15589919:15590323:15590446 | 15589746:15589919 | ENSG00000130234.6 | ENST00000252519.3,ENST00000427411.1 |
| exon_skip_514046 | X | 15607466:15607579:15609835:15609979:15610351:15610445 | 15609835:15609979 | ENSG00000130234.6 | ENST00000252519.3,ENST00000427411.1 |
| 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 ACE2 |
| 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 |
| ENST00000252519 | 15589746 | 15589919 | Frame-shift |
| ENST00000427411 | 15589746 | 15589919 | Frame-shift |
| ENST00000252519 | 15591489 | 15591588 | In-frame |
| ENST00000427411 | 15591489 | 15591588 | In-frame |
| ENST00000252519 | 15609835 | 15609979 | In-frame |
| ENST00000427411 | 15609835 | 15609979 | 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 |
| ENST00000252519 | 15589746 | 15589919 | Frame-shift |
| ENST00000427411 | 15589746 | 15589919 | Frame-shift |
| ENST00000252519 | 15609835 | 15609979 | In-frame |
| ENST00000427411 | 15609835 | 15609979 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ACE2 |
| 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 |
| ENST00000252519 | 3410 | 805 | 15609835 | 15609979 | 543 | 686 | 146 | 194 |
| ENST00000427411 | 3524 | 805 | 15609835 | 15609979 | 657 | 800 | 146 | 194 |
| ENST00000252519 | 3410 | 805 | 15591489 | 15591588 | 1546 | 1644 | 481 | 513 |
| ENST00000427411 | 3524 | 805 | 15591489 | 15591588 | 1660 | 1758 | 481 | 513 |
| 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 |
| ENST00000252519 | 3410 | 805 | 15609835 | 15609979 | 543 | 686 | 146 | 194 |
| ENST00000427411 | 3524 | 805 | 15609835 | 15609979 | 657 | 800 | 146 | 194 |
| 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 |
| Q9BYF1 | 146 | 194 | 169 | 169 | Binding site | Note=Chloride |
| Q9BYF1 | 146 | 194 | 169 | 169 | Binding site | Note=Chloride |
| Q9BYF1 | 146 | 194 | 18 | 805 | Chain | ID=PRO_0000028570;Note=Angiotensin-converting enzyme 2 |
| Q9BYF1 | 146 | 194 | 18 | 805 | Chain | ID=PRO_0000028570;Note=Angiotensin-converting enzyme 2 |
| Q9BYF1 | 146 | 194 | 18 | 708 | Chain | ID=PRO_0000292268;Note=Processed angiotensin-converting enzyme 2 |
| Q9BYF1 | 146 | 194 | 18 | 708 | Chain | ID=PRO_0000292268;Note=Processed angiotensin-converting enzyme 2 |
| Q9BYF1 | 146 | 194 | 148 | 154 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1R42 |
| Q9BYF1 | 146 | 194 | 148 | 154 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1R42 |
| Q9BYF1 | 146 | 194 | 158 | 171 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1R42 |
| Q9BYF1 | 146 | 194 | 158 | 171 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1R42 |
| Q9BYF1 | 146 | 194 | 173 | 193 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1R42 |
| Q9BYF1 | 146 | 194 | 173 | 193 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1R42 |
| Q9BYF1 | 146 | 194 | 160 | 160 | Mutagenesis | Note=No effect on interaction with SARS-CoV spike glycoprotein. E->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15791205;Dbxref=PMID:15791205 |
| Q9BYF1 | 146 | 194 | 160 | 160 | Mutagenesis | Note=No effect on interaction with SARS-CoV spike glycoprotein. E->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15791205;Dbxref=PMID:15791205 |
| Q9BYF1 | 146 | 194 | 192 | 192 | Mutagenesis | Note=No effect on interaction with SARS-CoV spike glycoprotein. R->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15791205;Dbxref=PMID:15791205 |
| Q9BYF1 | 146 | 194 | 192 | 192 | Mutagenesis | Note=No effect on interaction with SARS-CoV spike glycoprotein. R->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15791205;Dbxref=PMID:15791205 |
| Q9BYF1 | 146 | 194 | 18 | 740 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9BYF1 | 146 | 194 | 18 | 740 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9BYF1 | 146 | 194 | 144 | 146 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1R42 |
| Q9BYF1 | 146 | 194 | 144 | 146 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1R42 |
| Q9BYF1 | 481 | 513 | 505 | 505 | Active site | . |
| Q9BYF1 | 481 | 513 | 505 | 505 | Active site | . |
| Q9BYF1 | 481 | 513 | 486 | 488 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3D0G |
| Q9BYF1 | 481 | 513 | 486 | 488 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3D0G |
| Q9BYF1 | 481 | 513 | 481 | 481 | Binding site | Note=Chloride |
| Q9BYF1 | 481 | 513 | 481 | 481 | Binding site | Note=Chloride |
| Q9BYF1 | 481 | 513 | 18 | 805 | Chain | ID=PRO_0000028570;Note=Angiotensin-converting enzyme 2 |
| Q9BYF1 | 481 | 513 | 18 | 805 | Chain | ID=PRO_0000028570;Note=Angiotensin-converting enzyme 2 |
| Q9BYF1 | 481 | 513 | 18 | 708 | Chain | ID=PRO_0000292268;Note=Processed angiotensin-converting enzyme 2 |
| Q9BYF1 | 481 | 513 | 18 | 708 | Chain | ID=PRO_0000292268;Note=Processed angiotensin-converting enzyme 2 |
| Q9BYF1 | 481 | 513 | 473 | 483 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1R42 |
| Q9BYF1 | 481 | 513 | 473 | 483 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1R42 |
| Q9BYF1 | 481 | 513 | 499 | 502 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1R42 |
| Q9BYF1 | 481 | 513 | 499 | 502 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1R42 |
| Q9BYF1 | 481 | 513 | 504 | 507 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1R42 |
| Q9BYF1 | 481 | 513 | 504 | 507 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1R42 |
| Q9BYF1 | 481 | 513 | 508 | 508 | Sequence conflict | Note=N->D;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9BYF1 | 481 | 513 | 508 | 508 | Sequence conflict | Note=N->D;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9BYF1 | 481 | 513 | 18 | 740 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9BYF1 | 481 | 513 | 18 | 740 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| Q9BYF1 | 146 | 194 | 169 | 169 | Binding site | Note=Chloride |
| Q9BYF1 | 146 | 194 | 169 | 169 | Binding site | Note=Chloride |
| Q9BYF1 | 146 | 194 | 18 | 805 | Chain | ID=PRO_0000028570;Note=Angiotensin-converting enzyme 2 |
| Q9BYF1 | 146 | 194 | 18 | 805 | Chain | ID=PRO_0000028570;Note=Angiotensin-converting enzyme 2 |
| Q9BYF1 | 146 | 194 | 18 | 708 | Chain | ID=PRO_0000292268;Note=Processed angiotensin-converting enzyme 2 |
| Q9BYF1 | 146 | 194 | 18 | 708 | Chain | ID=PRO_0000292268;Note=Processed angiotensin-converting enzyme 2 |
| Q9BYF1 | 146 | 194 | 148 | 154 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1R42 |
| Q9BYF1 | 146 | 194 | 148 | 154 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1R42 |
| Q9BYF1 | 146 | 194 | 158 | 171 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1R42 |
| Q9BYF1 | 146 | 194 | 158 | 171 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1R42 |
| Q9BYF1 | 146 | 194 | 173 | 193 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1R42 |
| Q9BYF1 | 146 | 194 | 173 | 193 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1R42 |
| Q9BYF1 | 146 | 194 | 160 | 160 | Mutagenesis | Note=No effect on interaction with SARS-CoV spike glycoprotein. E->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15791205;Dbxref=PMID:15791205 |
| Q9BYF1 | 146 | 194 | 160 | 160 | Mutagenesis | Note=No effect on interaction with SARS-CoV spike glycoprotein. E->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15791205;Dbxref=PMID:15791205 |
| Q9BYF1 | 146 | 194 | 192 | 192 | Mutagenesis | Note=No effect on interaction with SARS-CoV spike glycoprotein. R->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15791205;Dbxref=PMID:15791205 |
| Q9BYF1 | 146 | 194 | 192 | 192 | Mutagenesis | Note=No effect on interaction with SARS-CoV spike glycoprotein. R->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15791205;Dbxref=PMID:15791205 |
| Q9BYF1 | 146 | 194 | 18 | 740 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9BYF1 | 146 | 194 | 18 | 740 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9BYF1 | 146 | 194 | 144 | 146 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1R42 |
| Q9BYF1 | 146 | 194 | 144 | 146 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1R42 |
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SNVs in the skipped exons for ACE2 |
| - 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. |
ACE2_LIHC_exon_skip_514046_psi_boxplot.png |
| - 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 |
| COAD | TCGA-CA-6717-01 | exon_skip_514045 | 15591490 | 15591588 | 15591491 | 15591491 | Nonsense_Mutation | G | A | p.R514X |
| KIRC | TCGA-B0-5709-01 | exon_skip_514045 | 15591490 | 15591588 | 15591566 | 15591566 | Nonsense_Mutation | C | A | p.E489X |
| LIHC | TCGA-DD-AAW2-01 | exon_skip_514046 | 15609836 | 15609979 | 15609834 | 15609834 | Splice_Site | A | G | . |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-DD-AAW2-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_514046 | |
| Skipped exon start: 15609836 | |
| Skipped exon end: 15609979 | |
| Mutation start: 15609834 | |
| Mutation end: 15609834 | |
| Mutation type: Splice_Site | |
| Reference seq: A | |
| Mutation seq: G | |
| AAchange: . | |
exon_skip_514046_LIHC_TCGA-DD-AAW2-01.png | |
| - 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 |
| NCIH838_LUNG | 15609836 | 15609979 | 15609957 | 15609958 | Frame_Shift_Ins | - | A | p.N154fs |
| TMK1_STOMACH | 15589747 | 15589919 | 15589749 | 15589749 | Missense_Mutation | G | A | p.P612L |
| HCC2998_LARGE_INTESTINE | 15589747 | 15589919 | 15589776 | 15589776 | Missense_Mutation | A | C | p.F603C |
| HEC251_ENDOMETRIUM | 15591490 | 15591588 | 15591503 | 15591503 | Missense_Mutation | A | G | p.Y510H |
| MCC13_SKIN | 15591490 | 15591588 | 15591548 | 15591548 | Missense_Mutation | C | T | p.E495K |
| JHOS2_OVARY | 15609836 | 15609979 | 15609868 | 15609868 | Missense_Mutation | A | G | p.V184A |
| SNU1040_LARGE_INTESTINE | 15589747 | 15589919 | 15589873 | 15589873 | Nonsense_Mutation | C | A | p.E571* |
| HCC2998_LARGE_INTESTINE | 15591490 | 15591588 | 15591491 | 15591491 | Splice_Site | G | A | p.R514* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ACE2 |
| 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 ACE2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ACE2 |
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RelatedDrugs for ACE2 |
| 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 |
| Q9BYF1 | DB00691 | Moexipril | Angiotensin-converting enzyme 2 | small molecule | approved |
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RelatedDiseases for ACE2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| ACE2 | C0020538 | Hypertensive disease | 4 | CTD_human |
| ACE2 | C0000786 | Spontaneous abortion | 1 | CTD_human |
| ACE2 | C0011881 | Diabetic Nephropathy | 1 | CTD_human |
| ACE2 | C0162871 | Aortic Aneurysm, Abdominal | 1 | CTD_human |
| ACE2 | C0553980 | Endomyocardial Fibrosis | 1 | CTD_human |
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