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Center for Computational Systems Medicine
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Gene summary

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Gene structures and expression levels

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Exon skipping events with PSIs in TCGA

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Exon skipping events with PSIs in GTEx

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Open reading frame (ORF) annotation in the exon skipping event

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Exon skipping events in the canonical protein sequence

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SNVs in the skipped exons with depth of coverage

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon

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Related drugs with this gene

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Related diseases with this gene

Gene summary for ACE2

check button Gene summary
Gene informationGene symbol

ACE2

Gene ID

59272

Gene nameangiotensin I converting enzyme 2
SynonymsACEH
Cytomap

Xp22.2

Type of geneprotein-coding
Descriptionangiotensin-converting enzyme 2ACE-related carboxypeptidaseangiotensin I converting enzyme (peptidyl-dipeptidase A) 2angiotensin-converting enzyme homologmetalloprotease MPROT15peptidyl-dipeptidase A
Modification date20180527
UniProtAcc

Q9BYF1

ContextPubMed: ACE2 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract]
- Title (PMID)

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed 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

check buttonSkipped 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.
all structure

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Gene isoform structures and expression levels for ACE2

check button Expression levels of gene isoforms across TCGA.
gencode gene structure

check button Expression levels of gene isoforms across GTEx.
gencode gene structure


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Exon skipping events with PSIs in TCGA for ACE2

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_514044X15588417:15588476:15589746:15589919:15590323:1559044615589746:15589919ENSG00000130234.6ENST00000252519.3,ENST00000427411.1
exon_skip_514045X15590323:15590446:15591489:15591588:15593788:1559393315591489:15591588ENSG00000130234.6ENST00000252519.3,ENST00000427411.1
exon_skip_514046X15607466:15607579:15609835:15609979:15610351:1561044515609835:15609979ENSG00000130234.6ENST00000252519.3,ENST00000427411.1

check button PSI values of skipped exons in TCGA.
psi tcga

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Exon skipping events with PSIs in GTEx for ACE2

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_514044X15588417:15588476:15589746:15589919:15590323:1559044615589746:15589919ENSG00000130234.6ENST00000252519.3,ENST00000427411.1
exon_skip_514046X15607466:15607579:15609835:15609979:15610351:1561044515609835:15609979ENSG00000130234.6ENST00000252519.3,ENST00000427411.1

check button PSI values of skipped exons in GTEx.
psi gtex

* Skipped exon sequences.

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Open reading frame (ORF) annotation in the exon skipping event for ACE2

check button Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000002525191558974615589919Frame-shift
ENST000004274111558974615589919Frame-shift
ENST000002525191559148915591588In-frame
ENST000004274111559148915591588In-frame
ENST000002525191560983515609979In-frame
ENST000004274111560983515609979In-frame

check button Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000002525191558974615589919Frame-shift
ENST000004274111558974615589919Frame-shift
ENST000002525191560983515609979In-frame
ENST000004274111560983515609979In-frame

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Infer the effects of exon skipping event on protein functional features for ACE2

check button Exon skipping at the protein sequence level and followed lost functional features.
* Click on the image to enlarge it in a new window.
prot feature distribution

check button Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST0000025251934108051560983515609979543686146194
ENST0000042741135248051560983515609979657800146194
ENST000002525193410805155914891559158815461644481513
ENST000004274113524805155914891559158816601758481513

check button Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST0000025251934108051560983515609979543686146194
ENST0000042741135248051560983515609979657800146194

check button 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 featureDescription of feature
Q9BYF1146194169169Binding siteNote=Chloride
Q9BYF1146194169169Binding siteNote=Chloride
Q9BYF114619418805ChainID=PRO_0000028570;Note=Angiotensin-converting enzyme 2
Q9BYF114619418805ChainID=PRO_0000028570;Note=Angiotensin-converting enzyme 2
Q9BYF114619418708ChainID=PRO_0000292268;Note=Processed angiotensin-converting enzyme 2
Q9BYF114619418708ChainID=PRO_0000292268;Note=Processed angiotensin-converting enzyme 2
Q9BYF1146194148154HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1R42
Q9BYF1146194148154HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1R42
Q9BYF1146194158171HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1R42
Q9BYF1146194158171HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1R42
Q9BYF1146194173193HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1R42
Q9BYF1146194173193HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1R42
Q9BYF1146194160160MutagenesisNote=No effect on interaction with SARS-CoV spike glycoprotein. E->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15791205;Dbxref=PMID:15791205
Q9BYF1146194160160MutagenesisNote=No effect on interaction with SARS-CoV spike glycoprotein. E->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15791205;Dbxref=PMID:15791205
Q9BYF1146194192192MutagenesisNote=No effect on interaction with SARS-CoV spike glycoprotein. R->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15791205;Dbxref=PMID:15791205
Q9BYF1146194192192MutagenesisNote=No effect on interaction with SARS-CoV spike glycoprotein. R->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15791205;Dbxref=PMID:15791205
Q9BYF114619418740Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9BYF114619418740Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9BYF1146194144146TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1R42
Q9BYF1146194144146TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1R42
Q9BYF1481513505505Active site.
Q9BYF1481513505505Active site.
Q9BYF1481513486488Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3D0G
Q9BYF1481513486488Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3D0G
Q9BYF1481513481481Binding siteNote=Chloride
Q9BYF1481513481481Binding siteNote=Chloride
Q9BYF148151318805ChainID=PRO_0000028570;Note=Angiotensin-converting enzyme 2
Q9BYF148151318805ChainID=PRO_0000028570;Note=Angiotensin-converting enzyme 2
Q9BYF148151318708ChainID=PRO_0000292268;Note=Processed angiotensin-converting enzyme 2
Q9BYF148151318708ChainID=PRO_0000292268;Note=Processed angiotensin-converting enzyme 2
Q9BYF1481513473483HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1R42
Q9BYF1481513473483HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1R42
Q9BYF1481513499502HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1R42
Q9BYF1481513499502HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1R42
Q9BYF1481513504507HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1R42
Q9BYF1481513504507HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1R42
Q9BYF1481513508508Sequence conflictNote=N->D;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9BYF1481513508508Sequence conflictNote=N->D;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9BYF148151318740Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9BYF148151318740Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255


check button 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 featureDescription of feature
Q9BYF1146194169169Binding siteNote=Chloride
Q9BYF1146194169169Binding siteNote=Chloride
Q9BYF114619418805ChainID=PRO_0000028570;Note=Angiotensin-converting enzyme 2
Q9BYF114619418805ChainID=PRO_0000028570;Note=Angiotensin-converting enzyme 2
Q9BYF114619418708ChainID=PRO_0000292268;Note=Processed angiotensin-converting enzyme 2
Q9BYF114619418708ChainID=PRO_0000292268;Note=Processed angiotensin-converting enzyme 2
Q9BYF1146194148154HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1R42
Q9BYF1146194148154HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1R42
Q9BYF1146194158171HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1R42
Q9BYF1146194158171HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1R42
Q9BYF1146194173193HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1R42
Q9BYF1146194173193HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1R42
Q9BYF1146194160160MutagenesisNote=No effect on interaction with SARS-CoV spike glycoprotein. E->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15791205;Dbxref=PMID:15791205
Q9BYF1146194160160MutagenesisNote=No effect on interaction with SARS-CoV spike glycoprotein. E->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15791205;Dbxref=PMID:15791205
Q9BYF1146194192192MutagenesisNote=No effect on interaction with SARS-CoV spike glycoprotein. R->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15791205;Dbxref=PMID:15791205
Q9BYF1146194192192MutagenesisNote=No effect on interaction with SARS-CoV spike glycoprotein. R->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15791205;Dbxref=PMID:15791205
Q9BYF114619418740Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9BYF114619418740Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9BYF1146194144146TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1R42
Q9BYF1146194144146TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1R42


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SNVs in the skipped exons for ACE2

check button - Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.
lollipop

check button - Differential PSIs between mutated versus non-mutated samples.
ACE2_LIHC_exon_skip_514046_psi_boxplot.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
COADTCGA-CA-6717-01exon_skip_514045
15591490155915881559149115591491Nonsense_MutationGAp.R514X
KIRCTCGA-B0-5709-01exon_skip_514045
15591490155915881559156615591566Nonsense_MutationCAp.E489X
LIHCTCGA-DD-AAW2-01exon_skip_514046
15609836156099791560983415609834Splice_SiteAG.

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
ACE2_15607466_15607579_15609835_15609979_15610351_15610445_TCGA-DD-AAW2-01Sample: 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
boxplot

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
NCIH838_LUNG15609836156099791560995715609958Frame_Shift_Ins-Ap.N154fs
TMK1_STOMACH15589747155899191558974915589749Missense_MutationGAp.P612L
HCC2998_LARGE_INTESTINE15589747155899191558977615589776Missense_MutationACp.F603C
HEC251_ENDOMETRIUM15591490155915881559150315591503Missense_MutationAGp.Y510H
MCC13_SKIN15591490155915881559154815591548Missense_MutationCTp.E495K
JHOS2_OVARY15609836156099791560986815609868Missense_MutationAGp.V184A
SNU1040_LARGE_INTESTINE15589747155899191558987315589873Nonsense_MutationCAp.E571*
HCC2998_LARGE_INTESTINE15591490155915881559149115591491Splice_SiteGAp.R514*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ACE2

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA 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

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
GeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
Q9BYF1DB00691MoexiprilAngiotensin-converting enzyme 2small moleculeapproved

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RelatedDiseases for ACE2

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
ACE2C0020538Hypertensive disease4CTD_human
ACE2C0000786Spontaneous abortion1CTD_human
ACE2C0011881Diabetic Nephropathy1CTD_human
ACE2C0162871Aortic Aneurysm, Abdominal1CTD_human
ACE2C0553980Endomyocardial Fibrosis1CTD_human