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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 |
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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) |
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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 |
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Gene isoform structures and expression levels for ACE2 |
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Exon skipping events with PSIs in TCGA for ACE2 |
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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 |
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Exon skipping events with PSIs in GTEx for ACE2 |
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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 |
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* Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for ACE2 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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ACE2_LIHC_exon_skip_514046_psi_boxplot.png![]() |
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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 | . |
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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 |
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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 |
![]() (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 |
![]() (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 |