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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for ACE |
 Gene summary |
| Gene information | Gene symbol | ACE | Gene ID | 1636 |
| Gene name | angiotensin I converting enzyme | |
| Synonyms | ACE1|CD143|DCP|DCP1 | |
| Cytomap | 17q23.3 | |
| Type of gene | protein-coding | |
| Description | angiotensin-converting enzymeCD143 antigenangiotensin I converting enzyme (peptidyl-dipeptidase A) 1angiotensin converting enzyme, somatic isoformcarboxycathepsindipeptidyl carboxypeptidase 1dipeptidyl carboxypeptidase Ikininase IIpeptidase P | |
| Modification date | 20200329 | |
| UniProtAcc | A0A0A0MSN4, D3DU13, I3UJJ7, I6L9B3, | |
| Context | - 31072831(A Clinical Dose of Angiotensin-Converting Enzyme (ACE) Inhibitor and Heterozygous ACE Deletion Exacerbate Alzheimer's Disease Pathology in Mice) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| ACE | GO:0042447 | hormone catabolic process | 7876104 |
| ACE | GO:0043171 | peptide catabolic process | 4322742|15283675 |
| ACE | GO:0050435 | amyloid-beta metabolic process | 18495113|19773553 |
| ACE | GO:0050482 | arachidonic acid secretion | 17077303 |
| ACE | GO:0060177 | regulation of angiotensin metabolic process | 1851160 |
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Gene structures and expression levels for ACE |
| Skipped exons in the ROSMAP, MSBB, and Mayo 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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ENSG00000159640
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| CB | DOWN | ENST00000582627.1 | ACE-216:protein_coding:ACE | 4.940356e-01 | -1.408227e+00 | 1.379918e-02 | 4.508269e-02 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for ACE |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_169885 | chr17 | 63482466:63482689:63483029:63483173:63483460:63483558 | 63483029:63483173 |
| exon_skip_205560 | chr17 | 63477931:63478098:63479007:63479100:63479769:63479912 | 63479007:63479100 |
| exon_skip_238301 | chr17 | 63488648:63488791:63488941:63489132:63490954:63491051 | 63488941:63489132 |
| exon_skip_279432 | chr17 | 63483460:63483558:63483849:63483971:63484330:63484541 | 63483849:63483971 |
| exon_skip_285497 | chr17 | 63477931:63478098:63479769:63479912:63480337:63480425 | 63479769:63479912 |
| exon_skip_55877 | chr17 | 63494372:63494470:63496394:63496516:63496798:63496985 | 63496394:63496516 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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Open reading frame (ORF) annotation in the exon skipping event for ACE |
| Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000290866 | 63479007 | 63479100 | Frame-shift |
| ENST00000290866 | 63483029 | 63483173 | Frame-shift |
| ENST00000290866 | 63483849 | 63483971 | In-frame |
| ENST00000290866 | 63488941 | 63489132 | In-frame |
| ENST00000290866 | 63496394 | 63496516 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000290866 | 63479007 | 63479100 | Frame-shift |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000290866 | 63479007 | 63479100 | Frame-shift |
| ENST00000290866 | 63483029 | 63483173 | Frame-shift |
| ENST00000290866 | 63488941 | 63489132 | In-frame |
| ENST00000290866 | 63496394 | 63496516 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ACE |
p-ENSG00000159640_img4.png |
| Loci of skipped exons in ROSMAP 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 |
| ENST00000290866 | 4976 | 1306 | 63483849 | 63483971 | 1612 | 1733 | 529 | 569 |
| ENST00000290866 | 4976 | 1306 | 63488941 | 63489132 | 2475 | 2665 | 817 | 880 |
| ENST00000290866 | 4976 | 1306 | 63496394 | 63496516 | 3406 | 3527 | 1127 | 1167 |
| Loci of skipped exons in MSBB 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 |
| Loci of skipped exons in Mayo 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 |
| ENST00000290866 | 4976 | 1306 | 63488941 | 63489132 | 2475 | 2665 | 817 | 880 |
| ENST00000290866 | 4976 | 1306 | 63496394 | 63496516 | 3406 | 3527 | 1127 | 1167 |
| Lost protein functional features of individual exon skipping events in ROSMAP. |
| 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 |
| P12821 | 529 | 569 | 1 | 641 | Alternative sequence | ID=VSP_054836;Note=In isoform 4. MGAASGRRGPGLLLPLPLLLLLPPQPALALDPGLQPGNFSADEAGAQLFAQSYNSSAEQVLFQSVAASWAHDTNITAENARRQEEAALLSQEFAEAWGQKAKELYEPIWQNFTDPQLRRIIGAVRTLGSANLPLAKRQQYNALLSNMSRIYSTAKVCLPNKTATCWSLDPDLTNILASSRSYAMLLFAWEGWHNAAGIPLKPLYEDFTALSNEAYKQDGFTD |
| P12821 | 529 | 569 | 1 | 574 | Alternative sequence | ID=VSP_035120;Note=In isoform Testis-specific. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:2547653,ECO:0000303|PubMed:2554286;Dbxref=PMID:2547653,PMID:2554286 |
| P12821 | 529 | 569 | 529 | 529 | Binding site | Note=Chloride 1 |
| P12821 | 529 | 569 | 30 | 1306 | Chain | ID=PRO_0000028530;Note=Angiotensin-converting enzyme |
| P12821 | 529 | 569 | 30 | 1232 | Chain | ID=PRO_0000028531;Note=Angiotensin-converting enzyme%2C soluble form |
| P12821 | 529 | 569 | 528 | 547 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5AMB |
| P12821 | 529 | 569 | 554 | 556 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5AMB |
| P12821 | 529 | 569 | 563 | 575 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5AMB |
| P12821 | 529 | 569 | 561 | 561 | Natural variant | ID=VAR_011708;Note=R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10319862;Dbxref=dbSNP:rs4314,PMID:10319862 |
| P12821 | 529 | 569 | 30 | 630 | Region | Note=Peptidase M2 1 |
| P12821 | 529 | 569 | 30 | 1256 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P12821 | 817 | 880 | 879 | 882 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6F9T |
| P12821 | 817 | 880 | 829 | 829 | Binding site | Note=Chloride 3 |
| P12821 | 817 | 880 | 30 | 1306 | Chain | ID=PRO_0000028530;Note=Angiotensin-converting enzyme |
| P12821 | 817 | 880 | 30 | 1232 | Chain | ID=PRO_0000028531;Note=Angiotensin-converting enzyme%2C soluble form |
| P12821 | 817 | 880 | 821 | 826 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6F9T |
| P12821 | 817 | 880 | 827 | 829 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6F9T |
| P12821 | 817 | 880 | 834 | 844 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6F9T |
| P12821 | 817 | 880 | 846 | 864 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6F9T |
| P12821 | 817 | 880 | 828 | 828 | Natural variant | ID=VAR_034602;Note=M->T;Dbxref=dbSNP:rs13306091 |
| P12821 | 817 | 880 | 631 | 1232 | Region | Note=Peptidase M2 2 |
| P12821 | 817 | 880 | 30 | 1256 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P12821 | 817 | 880 | 866 | 868 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6F9T |
| P12821 | 1127 | 1167 | 1128 | 1168 | Alternative sequence | ID=VSP_054837;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| P12821 | 1127 | 1167 | 1137 | 1145 | Alternative sequence | ID=VSP_029932;Note=In isoform Somatic-2. QFHEALCQA->HPFSQHTAA;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9642152;Dbxref=PMID:9642152 |
| P12821 | 1127 | 1167 | 1146 | 1306 | Alternative sequence | ID=VSP_029933;Note=In isoform Somatic-2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9642152;Dbxref=PMID:9642152 |
| P12821 | 1127 | 1167 | 1127 | 1127 | Binding site | Note=Chloride 3 |
| P12821 | 1127 | 1167 | 30 | 1306 | Chain | ID=PRO_0000028530;Note=Angiotensin-converting enzyme |
| P12821 | 1127 | 1167 | 30 | 1232 | Chain | ID=PRO_0000028531;Note=Angiotensin-converting enzyme%2C soluble form |
| P12821 | 1127 | 1167 | 1143 | 1155 | Disulfide bond | Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8755737;Dbxref=PMID:8755737 |
| P12821 | 1127 | 1167 | 1126 | 1145 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6F9T |
| P12821 | 1127 | 1167 | 1152 | 1154 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6F9T |
| P12821 | 1127 | 1167 | 1161 | 1172 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6F9T |
| P12821 | 1127 | 1167 | 631 | 1232 | Region | Note=Peptidase M2 2 |
| P12821 | 1127 | 1167 | 30 | 1256 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Lost protein functional features of individual exon skipping events in MSBB. |
| 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 |
| Lost protein functional features of individual exon skipping events in Mayo. |
| 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 |
| P12821 | 817 | 880 | 879 | 882 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6F9T |
| P12821 | 817 | 880 | 829 | 829 | Binding site | Note=Chloride 3 |
| P12821 | 817 | 880 | 30 | 1306 | Chain | ID=PRO_0000028530;Note=Angiotensin-converting enzyme |
| P12821 | 817 | 880 | 30 | 1232 | Chain | ID=PRO_0000028531;Note=Angiotensin-converting enzyme%2C soluble form |
| P12821 | 817 | 880 | 821 | 826 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6F9T |
| P12821 | 817 | 880 | 827 | 829 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6F9T |
| P12821 | 817 | 880 | 834 | 844 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6F9T |
| P12821 | 817 | 880 | 846 | 864 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6F9T |
| P12821 | 817 | 880 | 828 | 828 | Natural variant | ID=VAR_034602;Note=M->T;Dbxref=dbSNP:rs13306091 |
| P12821 | 817 | 880 | 631 | 1232 | Region | Note=Peptidase M2 2 |
| P12821 | 817 | 880 | 30 | 1256 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P12821 | 817 | 880 | 866 | 868 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6F9T |
| P12821 | 1127 | 1167 | 1128 | 1168 | Alternative sequence | ID=VSP_054837;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| P12821 | 1127 | 1167 | 1137 | 1145 | Alternative sequence | ID=VSP_029932;Note=In isoform Somatic-2. QFHEALCQA->HPFSQHTAA;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9642152;Dbxref=PMID:9642152 |
| P12821 | 1127 | 1167 | 1146 | 1306 | Alternative sequence | ID=VSP_029933;Note=In isoform Somatic-2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9642152;Dbxref=PMID:9642152 |
| P12821 | 1127 | 1167 | 1127 | 1127 | Binding site | Note=Chloride 3 |
| P12821 | 1127 | 1167 | 30 | 1306 | Chain | ID=PRO_0000028530;Note=Angiotensin-converting enzyme |
| P12821 | 1127 | 1167 | 30 | 1232 | Chain | ID=PRO_0000028531;Note=Angiotensin-converting enzyme%2C soluble form |
| P12821 | 1127 | 1167 | 1143 | 1155 | Disulfide bond | Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8755737;Dbxref=PMID:8755737 |
| P12821 | 1127 | 1167 | 1126 | 1145 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6F9T |
| P12821 | 1127 | 1167 | 1152 | 1154 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6F9T |
| P12821 | 1127 | 1167 | 1161 | 1172 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6F9T |
| P12821 | 1127 | 1167 | 631 | 1232 | Region | Note=Peptidase M2 2 |
| P12821 | 1127 | 1167 | 30 | 1256 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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3'-UTR located exon skipping events that lost miRNA binding sites in ACE |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for ACE |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - 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 |
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AD stage-associated exon skippint events for ACE |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ACE |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for ACE |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for ACE |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| P12821 | approved | DB00178 | Ramipril | small molecule | P12821 |
| P12821 | approved | DB00492 | Fosinopril | small molecule | P12821 |
| P12821 | approved | DB00519 | Trandolapril | small molecule | P12821 |
| P12821 | approved|investigational | DB00542 | Benazepril | small molecule | P12821 |
| P12821 | approved|vet_approved | DB00584 | Enalapril | small molecule | P12821 |
| P12821 | approved | DB00691 | Moexipril | small molecule | P12821 |
| P12821 | approved|investigational | DB00722 | Lisinopril | small molecule | P12821 |
| P12821 | approved | DB00790 | Perindopril | small molecule | P12821 |
| P12821 | approved|investigational | DB00881 | Quinapril | small molecule | P12821 |
| P12821 | approved | DB01180 | Rescinnamine | small molecule | P12821 |
| P12821 | approved | DB01197 | Captopril | small molecule | P12821 |
| P12821 | approved | DB01340 | Cilazapril | small molecule | P12821 |
| P12821 | approved | DB01348 | Spirapril | small molecule | P12821 |
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RelatedDiseases for ACE |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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