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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 EZH2

check button Gene summary
Gene informationGene symbol

EZH2

Gene ID

2146

Gene nameenhancer of zeste 2 polycomb repressive complex 2 subunit
SynonymsENX-1|ENX1|EZH2b|KMT6|KMT6A|WVS|WVS2
Cytomap

7q36.1

Type of geneprotein-coding
Descriptionhistone-lysine N-methyltransferase EZH2enhancer of zeste homolog 2lysine N-methyltransferase 6
Modification date20180527
UniProtAcc

Q15910

ContextPubMed: EZH2 [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
EZH2

GO:0000122

negative regulation of transcription by RNA polymerase II

20154697

EZH2

GO:0010718

positive regulation of epithelial to mesenchymal transition

20154697

EZH2

GO:0043406

positive regulation of MAP kinase activity

20154697

EZH2

GO:0043547

positive regulation of GTPase activity

20154697

EZH2

GO:0045814

negative regulation of gene expression, epigenetic

20154697

EZH2

GO:0070734

histone H3-K27 methylation

24474760

EZH2

GO:0071902

positive regulation of protein serine/threonine kinase activity

20154697


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Exon skipping events across known transcript of Ensembl for EZH2 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 EZH2

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 EZH2

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_4801057148504616:148504798:148506162:148506247:148506401:148506482148506162:148506247ENSG00000106462.6ENST00000460911.1,ENST00000478654.1,ENST00000476773.1,ENST00000350995.2,ENST00000492143.1,ENST00000320356.2,ENST00000541220.1,ENST00000483967.1
exon_skip_4801087148506401:148506482:148507424:148507506:148508716:148508812148507424:148507506ENSG00000106462.6ENST00000460911.1,ENST00000478654.1,ENST00000476773.1,ENST00000350995.2,ENST00000492143.1,ENST00000320356.2,ENST00000541220.1,ENST00000483967.1
exon_skip_4801117148508716:148508812:148511050:148511229:148512005:148512131148511050:148511229ENSG00000106462.6ENST00000460911.1,ENST00000350995.2,ENST00000492143.1,ENST00000320356.2,ENST00000483967.1
exon_skip_4801127148508716:148508812:148511050:148511229:148512597:148512638148511050:148511229ENSG00000106462.6ENST00000478654.1,ENST00000476773.1,ENST00000541220.1
exon_skip_4801157148511050:148511229:148512005:148512131:148512597:148512638148512005:148512131ENSG00000106462.6ENST00000460911.1,ENST00000350995.2,ENST00000492143.1,ENST00000320356.2,ENST00000483967.1
exon_skip_4801177148512597:148512638:148513775:148513870:148514313:148514483148513775:148513870ENSG00000106462.6ENST00000460911.1,ENST00000478654.1,ENST00000476773.1,ENST00000350995.2,ENST00000320356.2,ENST00000541220.1,ENST00000483967.1
exon_skip_4801257148513775:148513870:148514313:148514483:148514968:148515209148514313:148514483ENSG00000106462.6ENST00000460911.1,ENST00000478654.1,ENST00000476773.1,ENST00000350995.2,ENST00000320356.2,ENST00000541220.1,ENST00000483967.1
exon_skip_4801287148515128:148515209:148516069:148516151:148516687:148516779148516069:148516151ENSG00000106462.6ENST00000492143.1,ENST00000536783.1,ENST00000483012.1
exon_skip_4801297148516687:148516779:148523545:148523724:148524255:148524358148523545:148523724ENSG00000106462.6ENST00000320356.2
exon_skip_4801317148516687:148516779:148523560:148523724:148524255:148524358148523560:148523724ENSG00000106462.6ENST00000460911.1,ENST00000478654.1,ENST00000476773.1,ENST00000350995.2,ENST00000492143.1,ENST00000536783.1,ENST00000541220.1,ENST00000483012.1,ENST00000483967.1,ENST00000498186.1
exon_skip_4801327148526819:148526940:148529725:148529842:148543561:148543679148529725:148529842ENSG00000106462.6ENST00000460911.1,ENST00000492143.1,ENST00000320356.2,ENST00000498186.1
exon_skip_4801337148526819:148526940:148529725:148529842:148543588:148543690148529725:148529842ENSG00000106462.6ENST00000478654.1,ENST00000476773.1,ENST00000541220.1,ENST00000483967.1
exon_skip_4801407148529725:148529842:148533913:148534092:148543561:148543679148533913:148534092ENSG00000106462.6ENST00000536783.1,ENST00000483012.1
exon_skip_4801477148543588:148543690:148544273:148544397:148581255:148581337148544273:148544397ENSG00000106462.6ENST00000460911.1,ENST00000350995.2,ENST00000320356.2,ENST00000536783.1,ENST00000541220.1,ENST00000483012.1,ENST00000483967.1,ENST00000498186.1

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

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Exon skipping events with PSIs in GTEx for EZH2

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_4801057148504616:148504798:148506162:148506247:148506401:148506482148506162:148506247ENSG00000106462.6ENST00000492143.1,ENST00000478654.1,ENST00000460911.1,ENST00000350995.2,ENST00000320356.2,ENST00000541220.1,ENST00000476773.1,ENST00000483967.1
exon_skip_4801087148506401:148506482:148507424:148507506:148508716:148508812148507424:148507506ENSG00000106462.6ENST00000492143.1,ENST00000478654.1,ENST00000460911.1,ENST00000350995.2,ENST00000320356.2,ENST00000541220.1,ENST00000476773.1,ENST00000483967.1
exon_skip_4801117148508716:148508812:148511050:148511229:148512005:148512131148511050:148511229ENSG00000106462.6ENST00000492143.1,ENST00000460911.1,ENST00000350995.2,ENST00000320356.2,ENST00000483967.1
exon_skip_4801127148508716:148508812:148511050:148511229:148512597:148512638148511050:148511229ENSG00000106462.6ENST00000478654.1,ENST00000541220.1,ENST00000476773.1
exon_skip_4801157148511050:148511229:148512005:148512131:148512597:148512638148512005:148512131ENSG00000106462.6ENST00000492143.1,ENST00000460911.1,ENST00000350995.2,ENST00000320356.2,ENST00000483967.1
exon_skip_4801177148512597:148512638:148513775:148513870:148514313:148514483148513775:148513870ENSG00000106462.6ENST00000478654.1,ENST00000460911.1,ENST00000350995.2,ENST00000320356.2,ENST00000541220.1,ENST00000476773.1,ENST00000483967.1
exon_skip_4801257148513775:148513870:148514313:148514483:148514968:148515209148514313:148514483ENSG00000106462.6ENST00000478654.1,ENST00000460911.1,ENST00000350995.2,ENST00000320356.2,ENST00000541220.1,ENST00000476773.1,ENST00000483967.1
exon_skip_4801287148515128:148515209:148516069:148516151:148516687:148516779148516069:148516151ENSG00000106462.6ENST00000492143.1,ENST00000483012.1,ENST00000536783.1
exon_skip_4801297148516687:148516779:148523545:148523724:148524255:148524358148523545:148523724ENSG00000106462.6ENST00000320356.2
exon_skip_4801317148516687:148516779:148523560:148523724:148524255:148524358148523560:148523724ENSG00000106462.6ENST00000492143.1,ENST00000478654.1,ENST00000460911.1,ENST00000350995.2,ENST00000541220.1,ENST00000476773.1,ENST00000483967.1,ENST00000498186.1,ENST00000483012.1,ENST00000536783.1
exon_skip_4801327148526819:148526940:148529725:148529842:148543561:148543679148529725:148529842ENSG00000106462.6ENST00000492143.1,ENST00000460911.1,ENST00000320356.2,ENST00000498186.1
exon_skip_4801337148526819:148526940:148529725:148529842:148543588:148543690148529725:148529842ENSG00000106462.6ENST00000478654.1,ENST00000541220.1,ENST00000476773.1,ENST00000483967.1
exon_skip_4801407148529725:148529842:148533913:148534092:148543561:148543679148533913:148534092ENSG00000106462.6ENST00000483012.1,ENST00000536783.1
exon_skip_4801477148543588:148543690:148544273:148544397:148581255:148581337148544273:148544397ENSG00000106462.6ENST00000460911.1,ENST00000350995.2,ENST00000320356.2,ENST00000541220.1,ENST00000483967.1,ENST00000498186.1,ENST00000483012.1,ENST00000536783.1

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 EZH2

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
ENST000004609111485442731485443973UTR-3CDS
ENST00000460911148506162148506247Frame-shift
ENST00000460911148507424148507506Frame-shift
ENST00000460911148511050148511229Frame-shift
ENST00000460911148513775148513870Frame-shift
ENST00000460911148514313148514483Frame-shift
ENST00000460911148523560148523724Frame-shift
ENST00000460911148512005148512131In-frame
ENST00000460911148529725148529842In-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
ENST000004609111485442731485443973UTR-3CDS
ENST00000460911148506162148506247Frame-shift
ENST00000460911148507424148507506Frame-shift
ENST00000460911148511050148511229Frame-shift
ENST00000460911148513775148513870Frame-shift
ENST00000460911148514313148514483Frame-shift
ENST00000460911148523560148523724Frame-shift
ENST00000460911148512005148512131In-frame
ENST00000460911148529725148529842In-frame

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Infer the effects of exon skipping event on protein functional features for EZH2

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
ENST00000460911260874614852972514852984233645282121
ENST00000460911260874614851200514851213116211746510552

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
ENST00000460911260874614852972514852984233645282121
ENST00000460911260874614851200514851213116211746510552

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


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


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SNVs in the skipped exons for EZH2

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
STADTCGA-FP-A4BE-01exon_skip_480105
148506163148506247148506210148506210Frame_Shift_DelA-p.A712fs
STADTCGA-FP-A4BE-01exon_skip_480105
148506163148506247148506210148506210Frame_Shift_DelA-p.A717fs
LIHCTCGA-G3-A3CJ-01exon_skip_480112
exon_skip_480111
148511051148511229148511094148511094Frame_Shift_DelT-p.N603fs
LIHCTCGA-G3-A3CJ-01exon_skip_480115
148512006148512131148512097148512097Frame_Shift_DelG-p.P527fs
LIHCTCGA-G3-A3CJ-01exon_skip_480117
148513776148513870148513859148513859Frame_Shift_DelA-p.F474fs
LIHCTCGA-G3-A3CJ-01exon_skip_480125
148514314148514483148514389148514389Frame_Shift_DelA-p.F445fs
LIHCTCGA-DD-A3A0-01exon_skip_480125
148514314148514483148514463148514463Frame_Shift_DelT-p.T421fs
LIHCTCGA-DD-A3A0-01exon_skip_480131
exon_skip_480129
148523546148523724148523583148523583Frame_Shift_DelA-p.F290fs
LIHCTCGA-DD-A3A0-01exon_skip_480131
exon_skip_480129
148523561148523724148523583148523583Frame_Shift_DelA-p.F290fs
LIHCTCGA-DD-A3A0-01exon_skip_480131
exon_skip_480129
148523546148523724148523667148523667Frame_Shift_DelG-p.P262fs
LIHCTCGA-DD-A3A0-01exon_skip_480131
exon_skip_480129
148523561148523724148523667148523667Frame_Shift_DelG-p.P262fs
LIHCTCGA-DD-A3A0-01exon_skip_480147
148544274148544397148544331148544331Frame_Shift_DelT-p.K20fs
LUSCTCGA-37-3789-01exon_skip_480115
148512006148512131148512011148512011Nonsense_MutationGCp.S551*
UCECTCGA-A5-A0GQ-01exon_skip_480125
148514314148514483148514368148514368Nonsense_MutationGCp.Y447*
UCECTCGA-A5-A0GQ-01exon_skip_480125
148514314148514483148514368148514368Nonsense_MutationGCp.Y452*
UCECTCGA-B5-A0JY-01exon_skip_480131
exon_skip_480129
148523546148523724148523717148523717Nonsense_MutationCAp.E246*
UCECTCGA-B5-A0JY-01exon_skip_480131
exon_skip_480129
148523561148523724148523717148523717Nonsense_MutationCAp.E246*
LUADTCGA-MN-A4N4-01exon_skip_480147
148544274148544397148544312148544312Nonsense_MutationTAp.R27*
BLCATCGA-DK-A3WW-01exon_skip_480115
148512006148512131148512132148512132Splice_SiteCGp.D511_splice

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
SNU520_STOMACH148512006148512131148512120148512121Frame_Shift_DelTA-p.N515fs
PL21_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE148506163148506247148506170148506171Frame_Shift_Ins-Ap.D725fs
TALL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE148506163148506247148506219148506219Missense_MutationTCp.I708M
SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE148507425148507506148507458148507458Missense_MutationATp.Y661N
PL21_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE148511051148511229148511206148511206Missense_MutationGTp.R561S
TALL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE148511051148511229148511222148511222Missense_MutationGTp.N555K
HT115_LARGE_INTESTINE148512006148512131148512042148512042Missense_MutationTGp.N541H
SHP77_LUNG148512006148512131148512065148512065Missense_MutationGAp.S533L
NCIH1155_LUNG148512006148512131148512068148512068Missense_MutationCTp.S532N
MET2B148512006148512131148512125148512125Missense_MutationGAp.S513F
MDAMB436_BREAST148513776148513870148513810148513810Missense_MutationCAp.D486Y
DMS153_LUNG148513776148513870148513831148513831Missense_MutationGAp.P479S
HCC2450_LUNG148514314148514483148514466148514466Missense_MutationGCp.Q415E
HCT15_LARGE_INTESTINE148514314148514483148514471148514471Missense_MutationCTp.R413Q
SNU175_LARGE_INTESTINE148523561148523724148523581148523581Missense_MutationTGp.K291T
SNU175_LARGE_INTESTINE148523546148523724148523581148523581Missense_MutationTGp.K291T
NCIH2172_LUNG148523561148523724148523596148523596Missense_MutationCAp.C286F
NCIH2172_LUNG148523546148523724148523596148523596Missense_MutationCAp.C286F
KE37_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE148523561148523724148523618148523618Missense_MutationGAp.H279Y
KE37_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE148523546148523724148523618148523618Missense_MutationGAp.H279Y
JJN3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE148523561148523724148523651148523651Missense_MutationTCp.N268D
JJN3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE148523546148523724148523651148523651Missense_MutationTCp.N268D
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE148544274148544397148544344148544344Missense_MutationCTp.R16Q
DV90_LUNG148544274148544397148544350148544350Missense_MutationCTp.C14Y
JHUEM7_ENDOMETRIUM148507425148507506148507425148507425Splice_SiteCAp.D672Y

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for EZH2

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 EZH2


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for EZH2


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RelatedDrugs for EZH2

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 EZH2

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
EZH2C0033578Prostatic Neoplasms3CTD_human
EZH2C0001815Primary Myelofibrosis1CTD_human
EZH2C0010278Craniosynostosis1CTD_human
EZH2C0014170Endometrial Neoplasms1CTD_human
EZH2C0024301Lymphoma, Follicular1CTD_human
EZH2C0029463Osteosarcoma1CTD_human
EZH2C0079744Diffuse Large B-Cell Lymphoma1CTD_human
EZH2C0265210Weaver syndrome1ORPHANET;UNIPROT
EZH2C0349639Juvenile Myelomonocytic Leukemia1CTD_human
EZH2C0749794Upper Extremity Deformities, Congenital1CTD_human
EZH2C1301355Myelodysplastic-Myeloproliferative Diseases1CTD_human
EZH2C1458155Mammary Neoplasms1CTD_human
EZH2C1860789Leukemia, Megakaryoblastic, of Down Syndrome1CTD_human
EZH2C3463824MYELODYSPLASTIC SYNDROME1CTD_human