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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 EZH2 |
 Gene summary |
| Gene information | Gene symbol | EZH2 | Gene ID | 2146 |
| Gene name | enhancer of zeste 2 polycomb repressive complex 2 subunit | |
| Synonyms | ENX-1|ENX1|EZH2b|KMT6|KMT6A|WVS|WVS2 | |
| Cytomap | 7q36.1 | |
| Type of gene | protein-coding | |
| Description | histone-lysine N-methyltransferase EZH2enhancer of zeste homolog 2lysine N-methyltransferase 6 | |
| Modification date | 20200329 | |
| UniProtAcc | ||
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed 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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Gene structures and expression levels for EZH2 |
| 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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ENSG00000106462
| 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. |
| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| 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 EZH2 |
| 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_119888 | chr7 | 148813959:148814137:148814914:148815039:148815506:148815546 | 148814914:148815039 |
| exon_skip_126001 | chr7 | 148829728:148829848:148832634:148832750:148846470:148846587 | 148832634:148832750 |
| exon_skip_143614 | chr7 | 148829728:148829848:148832634:148832750:148846470:148846596 | 148832634:148832750 |
| exon_skip_153421 | chr7 | 148829728:148829848:148832634:148832750:148846497:148846598 | 148832634:148832750 |
| exon_skip_168109 | chr7 | 148813959:148814137:148815506:148815546:148816684:148816778 | 148815506:148815546 |
| exon_skip_219968 | chr7 | 148819596:148819687:148826469:148826632:148827164:148827266 | 148826469:148826632 |
| exon_skip_221468 | chr7 | 148816684:148816778:148817222:148817391:148817877:148818117 | 148817222:148817391 |
| exon_skip_245790 | chr7 | 148819596:148819687:148826454:148826632:148827164:148827266 | 148826454:148826632 |
| exon_skip_263145 | chr7 | 148832634:148832750:148836822:148837000:148846470:148846596 | 148836822:148837000 |
| exon_skip_268125 | chr7 | 148832634:148832750:148836822:148837000:148846470:148846587 | 148836822:148837000 |
| exon_skip_29800 | chr7 | 148832634:148832750:148836822:148837000:148846470:148846598 | 148836822:148837000 |
| exon_skip_98568 | chr7 | 148818037:148818117:148818978:148819059:148819596:148819687 | 148818978:148819059 |
| 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 EZH2 |
| 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 |
| ENST00000460911 | 148817222 | 148817391 | Frame-shift |
| ENST00000460911 | 148814914 | 148815039 | 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 |
| ENST00000460911 | 148832634 | 148832750 | In-frame |
| 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 |
| ENST00000460911 | 148817222 | 148817391 | Frame-shift |
| ENST00000460911 | 148826469 | 148826632 | Frame-shift |
| ENST00000460911 | 148814914 | 148815039 | In-frame |
| ENST00000460911 | 148832634 | 148832750 | In-frame |
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Infer the effects of exon skipping event on protein functional features for EZH2 |
p-ENSG00000106462_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 |
| ENST00000460911 | 2608 | 746 | 148814914 | 148815039 | 1621 | 1745 | 510 | 552 |
| 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 |
| ENST00000460911 | 2608 | 746 | 148832634 | 148832750 | 336 | 451 | 82 | 120 |
| 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 |
| ENST00000460911 | 2608 | 746 | 148832634 | 148832750 | 336 | 451 | 82 | 120 |
| ENST00000460911 | 2608 | 746 | 148814914 | 148815039 | 1621 | 1745 | 510 | 552 |
| 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 |
| Q15910 | 510 | 552 | 511 | 553 | Alternative sequence | ID=VSP_038816;Note=In isoform 5. DGSSNHVYNYQPCDHPRQPCDSSCPCVIAQNFCEKFCQCSSEC->G;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q15910 | 510 | 552 | 526 | 528 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HYN |
| Q15910 | 510 | 552 | 1 | 746 | Chain | ID=PRO_0000213992;Note=Histone-lysine N-methyltransferase EZH2 |
| Q15910 | 510 | 552 | 523 | 605 | Compositional bias | Note=Cys-rich |
| Q15910 | 510 | 552 | 503 | 605 | Domain | Note=CXC;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00970 |
| Q15910 | 510 | 552 | 535 | 538 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4MI0 |
| Q15910 | 510 | 552 | 329 | 522 | Region | Note=Interaction with CDYL;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22009739;Dbxref=PMID:22009739 |
| 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 |
| Q15910 | 82 | 120 | 74 | 82 | Alternative sequence | ID=VSP_038813;Note=In isoform 4 and isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q15910 | 82 | 120 | 83 | 121 | Alternative sequence | ID=VSP_038814;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q15910 | 82 | 120 | 82 | 87 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HYN |
| Q15910 | 82 | 120 | 94 | 97 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HYN |
| Q15910 | 82 | 120 | 99 | 101 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HYN |
| Q15910 | 82 | 120 | 1 | 746 | Chain | ID=PRO_0000213992;Note=Histone-lysine N-methyltransferase EZH2 |
| Q15910 | 82 | 120 | 1 | 340 | Region | Note=Interaction with DNMT1%2C DNMT3A and DNMT3B |
| 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 |
| Q15910 | 82 | 120 | 74 | 82 | Alternative sequence | ID=VSP_038813;Note=In isoform 4 and isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q15910 | 82 | 120 | 83 | 121 | Alternative sequence | ID=VSP_038814;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q15910 | 82 | 120 | 82 | 87 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HYN |
| Q15910 | 82 | 120 | 94 | 97 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HYN |
| Q15910 | 82 | 120 | 99 | 101 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HYN |
| Q15910 | 82 | 120 | 1 | 746 | Chain | ID=PRO_0000213992;Note=Histone-lysine N-methyltransferase EZH2 |
| Q15910 | 82 | 120 | 1 | 340 | Region | Note=Interaction with DNMT1%2C DNMT3A and DNMT3B |
| Q15910 | 510 | 552 | 511 | 553 | Alternative sequence | ID=VSP_038816;Note=In isoform 5. DGSSNHVYNYQPCDHPRQPCDSSCPCVIAQNFCEKFCQCSSEC->G;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q15910 | 510 | 552 | 526 | 528 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HYN |
| Q15910 | 510 | 552 | 1 | 746 | Chain | ID=PRO_0000213992;Note=Histone-lysine N-methyltransferase EZH2 |
| Q15910 | 510 | 552 | 523 | 605 | Compositional bias | Note=Cys-rich |
| Q15910 | 510 | 552 | 503 | 605 | Domain | Note=CXC;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00970 |
| Q15910 | 510 | 552 | 535 | 538 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4MI0 |
| Q15910 | 510 | 552 | 329 | 522 | Region | Note=Interaction with CDYL;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22009739;Dbxref=PMID:22009739 |
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3'-UTR located exon skipping events that lost miRNA binding sites in EZH2 |
| 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 EZH2 |
| - 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 EZH2 |
| 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 EZH2 |
| 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 EZH2 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | ZNF638 | exon_skip_119888 | -5.046583e-01 | 2.280692e-09 |
| CB | TIA1 | exon_skip_119888 | 4.568738e-01 | 9.623978e-08 |
| CB | PCBP4 | exon_skip_119888 | 5.173553e-01 | 7.630858e-10 |
| CB | SNRPA | exon_skip_119888 | -4.096182e-01 | 2.311357e-06 |
| CB | NUP42 | exon_skip_119888 | 6.287319e-01 | 5.345297e-15 |
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RelatedDrugs for EZH2 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for EZH2 |
| 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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