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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 ETS2

check button Gene summary
Gene informationGene symbol

ETS2

Gene ID

2114

Gene nameETS proto-oncogene 2, transcription factor
SynonymsETS2IT1
Cytomap

21q22.2

Type of geneprotein-coding
Descriptionprotein C-ets-2oncogene ETS-2v-ets avian erythroblastosis virus E2 oncogene homolog 2v-ets avian erythroblastosis virus E26 oncogene homolog 2v-ets erythroblastosis virus E26 oncogene homolog 2
Modification date20180523
UniProtAcc

P15036

ContextPubMed: ETS2 [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
ETS2

GO:0000122

negative regulation of transcription by RNA polymerase II

12637547

ETS2

GO:0045893

positive regulation of transcription, DNA-templated

11909962


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Exon skipping events across known transcript of Ensembl for ETS2 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 ETS2

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 ETS2

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_3598462140177894:40178044:40178374:40178732:40181958:4018203040178374:40178732ENSG00000157557.7ENST00000432278.1
exon_skip_3598502140177894:40178044:40181958:40182030:40184926:4018503840181958:40182030ENSG00000157557.7ENST00000360214.3,ENST00000360938.3
exon_skip_3598522140181958:40182030:40184926:40185038:40186196:4018631640184926:40185038ENSG00000157557.7ENST00000432278.1,ENST00000360214.3,ENST00000360938.3,ENST00000456966.1
exon_skip_3598552140186704:40186905:40188931:40189015:40190348:4019057040188931:40189015ENSG00000157557.7ENST00000360214.3,ENST00000360938.3,ENST00000456966.1
exon_skip_3598562140188931:40189015:40190348:40190570:40191426:4019169040190348:40190570ENSG00000157557.7ENST00000360214.3,ENST00000360938.3
exon_skip_3598592140191426:40191690:40193509:40193628:40194597:4019547240193509:40193628ENSG00000157557.7ENST00000360214.3,ENST00000360938.3

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

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Exon skipping events with PSIs in GTEx for ETS2

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_3598462140177894:40178044:40178374:40178732:40181958:4018203040178374:40178732ENSG00000157557.7ENST00000432278.1
exon_skip_3598502140177894:40178044:40181958:40182030:40184926:4018503840181958:40182030ENSG00000157557.7ENST00000360214.3,ENST00000360938.3
exon_skip_3598522140181958:40182030:40184926:40185038:40186196:4018631640184926:40185038ENSG00000157557.7ENST00000360214.3,ENST00000360938.3,ENST00000432278.1,ENST00000456966.1
exon_skip_3598552140186704:40186905:40188931:40189015:40190348:4019057040188931:40189015ENSG00000157557.7ENST00000360214.3,ENST00000360938.3,ENST00000456966.1
exon_skip_3598562140188931:40189015:40190348:40190570:40191426:4019169040190348:40190570ENSG00000157557.7ENST00000360214.3,ENST00000360938.3
exon_skip_3598592140191426:40191690:40193509:40193628:40194597:4019547240193509:40193628ENSG00000157557.7ENST00000360214.3,ENST00000360938.3

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 ETS2

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
ENST000003602144018492640185038Frame-shift
ENST000003609384018492640185038Frame-shift
ENST000003602144019350940193628Frame-shift
ENST000003609384019350940193628Frame-shift
ENST000003602144018195840182030In-frame
ENST000003609384018195840182030In-frame
ENST000003602144018893140189015In-frame
ENST000003609384018893140189015In-frame
ENST000003602144019034840190570In-frame
ENST000003609384019034840190570In-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
ENST000003602144018492640185038Frame-shift
ENST000003609384018492640185038Frame-shift
ENST000003602144019350940193628Frame-shift
ENST000003609384019350940193628Frame-shift
ENST000003602144018195840182030In-frame
ENST000003609384018195840182030In-frame
ENST000003602144018893140189015In-frame
ENST000003609384018893140189015In-frame
ENST000003602144019034840190570In-frame
ENST000003609384019034840190570In-frame

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Infer the effects of exon skipping event on protein functional features for ETS2

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
ENST0000036021439534694018195840182030461532024
ENST0000036093837834694018195840182030291362024
ENST00000360214395346940188931401890159661049168196
ENST0000036093837834694018893140189015796879168196
ENST000003602143953469401903484019057010501271196270
ENST00000360938378346940190348401905708801101196270

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
ENST0000036021439534694018195840182030461532024
ENST0000036093837834694018195840182030291362024
ENST00000360214395346940188931401890159661049168196
ENST0000036093837834694018893140189015796879168196
ENST000003602143953469401903484019057010501271196270
ENST00000360938378346940190348401905708801101196270

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
P150360241469ChainID=PRO_0000204077;Note=Protein C-ets-2
P150360241469ChainID=PRO_0000204077;Note=Protein C-ets-2
P150361681961469ChainID=PRO_0000204077;Note=Protein C-ets-2
P150361681961469ChainID=PRO_0000204077;Note=Protein C-ets-2
P1503616819685170DomainNote=PNT;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00762
P1503616819685170DomainNote=PNT;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00762
P15036168196155169HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4MHV
P15036168196155169HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4MHV
P150361962701469ChainID=PRO_0000204077;Note=Protein C-ets-2
P150361962701469ChainID=PRO_0000204077;Note=Protein C-ets-2
P15036196270220220Modified residueNote=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24218572;Dbxref=PMID:24218572
P15036196270220220Modified residueNote=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24218572;Dbxref=PMID:24218572
P15036196270225225Modified residueNote=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24218572;Dbxref=PMID:24218572
P15036196270225225Modified residueNote=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24218572;Dbxref=PMID:24218572


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
P150360241469ChainID=PRO_0000204077;Note=Protein C-ets-2
P150360241469ChainID=PRO_0000204077;Note=Protein C-ets-2
P150361681961469ChainID=PRO_0000204077;Note=Protein C-ets-2
P150361681961469ChainID=PRO_0000204077;Note=Protein C-ets-2
P1503616819685170DomainNote=PNT;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00762
P1503616819685170DomainNote=PNT;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00762
P15036168196155169HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4MHV
P15036168196155169HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4MHV
P150361962701469ChainID=PRO_0000204077;Note=Protein C-ets-2
P150361962701469ChainID=PRO_0000204077;Note=Protein C-ets-2
P15036196270220220Modified residueNote=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24218572;Dbxref=PMID:24218572
P15036196270220220Modified residueNote=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24218572;Dbxref=PMID:24218572
P15036196270225225Modified residueNote=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24218572;Dbxref=PMID:24218572
P15036196270225225Modified residueNote=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24218572;Dbxref=PMID:24218572


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SNVs in the skipped exons for ETS2

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.

check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
LIHCTCGA-DD-A39Y-01exon_skip_359850
40181959401820304018199640181996Frame_Shift_DelC-p.A13fs
LIHCTCGA-DD-A3A0-01exon_skip_359850
40181959401820304018199640181996Frame_Shift_DelC-p.A13fs
LIHCTCGA-DD-A39Y-01exon_skip_359852
40184927401850384018497040184970Frame_Shift_DelT-p.V39fs
HNSCTCGA-CQ-7071-01exon_skip_359856
40190349401905704019056740190568Frame_Shift_DelTC-p.S270fs
UCECTCGA-AP-A05D-01exon_skip_359859
40193510401936284019358640193592Frame_Shift_DelGACTGGA-p.G386fs
UCECTCGA-AP-A05D-01exon_skip_359859
40193510401936284019358640193592Frame_Shift_DelGACTGGA-p.W524fs
UCECTCGA-B5-A11E-01exon_skip_359852
40184927401850384018500240185002Nonsense_MutationCTp.Q50*
UCECTCGA-BS-A0UV-01exon_skip_359852
40184927401850384018500540185005Nonsense_MutationGTp.E51*
ACCTCGA-OR-A5J4-01exon_skip_359855
40188932401890154018894940188949Nonsense_MutationGTp.E175*
ACCTCGA-OR-A5J4-01exon_skip_359855
40188932401890154018894940188949Nonsense_MutationGTp.E315X

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
GMEL_SKIN40190349401905704019055740190559In_Frame_DelCAC-p.T267del
KYSE30_OESOPHAGUS40188932401890154018894640188946Missense_MutationATp.T174S
NCIH1944_LUNG40188932401890154018898240188982Missense_MutationTCp.S186P
SH10TC_STOMACH40190349401905704019041240190412Missense_MutationTGp.L218R
NEC8_TESTIS40190349401905704019041240190412Missense_MutationTGp.L218R
SW837_LARGE_INTESTINE40190349401905704019046840190468Missense_MutationCAp.Q237K

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ETS2

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 ETS2


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ETS2


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RelatedDrugs for ETS2

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
GeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for ETS2

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
ETS2C0027746Nerve Degeneration1CTD_human
ETS2C0162820Dermatitis, Allergic Contact1CTD_human
ETS2C0376634Craniofacial Abnormalities1CTD_human
ETS2C1458155Mammary Neoplasms1CTD_human