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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 SUZ12 |
 Gene summary |
| Gene information | Gene symbol | SUZ12 | Gene ID | 23512 |
| Gene name | SUZ12 polycomb repressive complex 2 subunit | |
| Synonyms | CHET9|IMMAS|JJAZ1 | |
| Cytomap | 17q11.2 | |
| Type of gene | protein-coding | |
| Description | polycomb protein SUZ12chET 9 proteinchromatin precipitated E2F target 9 proteinjoined to JAZF1 proteinsuppressor of zeste 12 protein homolog | |
| Modification date | 20200313 | |
| UniProtAcc | J3QQW9, Q15022, | |
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
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Gene structures and expression levels for SUZ12 |
| 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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ENSG00000178691
| 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 | UP | ENST00000580398.1 | SUZ12-204:protein_coding:SUZ12 | 9.516170e+01 | 1.119830e+00 | 1.002530e-06 | 1.499649e-05 |
| CB | UP | ENST00000578106.1 | SUZ12-203:retained_intron:SUZ12 | 4.405324e+00 | 1.479255e+00 | 6.660575e-03 | 2.489925e-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 SUZ12 |
| 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_108344 | chr17 | 31976521:31976614:31982999:31983104:31988320:31988497 | 31982999:31983104 |
| exon_skip_131473 | chr17 | 31966147:31966196:31973146:31973231:31975482:31975501 | 31973146:31973231 |
| exon_skip_133142 | chr17 | 31940422:31940486:31947617:31947685:31966147:31966196 | 31947617:31947685 |
| exon_skip_143073 | chr17 | 31988320:31988497:31993242:31993333:31993865:31994008 | 31993242:31993333 |
| exon_skip_213197 | chr17 | 31988322:31988497:31993242:31993333:31993865:31994008 | 31993242:31993333 |
| exon_skip_236152 | chr17 | 31937067:31937520:31940286:31940332:31940422:31940486 | 31940286:31940332 |
| exon_skip_72428 | chr17 | 31940286:31940332:31940422:31940486:31947617:31947685 | 31940422:31940486 |
| exon_skip_95095 | chr17 | 31973146:31973231:31975482:31975713:31976521:31976614 | 31975482:31975713 |
| 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 SUZ12 |
| 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 |
| ENST00000322652 | 31982999 | 31983104 | Frame-shift |
| ENST00000322652 | 31993242 | 31993333 | Frame-shift |
| ENST00000322652 | 31947617 | 31947685 | 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 |
| ENST00000322652 | 31940422 | 31940486 | Frame-shift |
| ENST00000322652 | 31982999 | 31983104 | Frame-shift |
| ENST00000322652 | 31947617 | 31947685 | 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 |
| ENST00000322652 | 31940422 | 31940486 | Frame-shift |
| ENST00000322652 | 31973146 | 31973231 | Frame-shift |
| ENST00000322652 | 31975482 | 31975713 | Frame-shift |
| ENST00000322652 | 31982999 | 31983104 | Frame-shift |
| ENST00000322652 | 31993242 | 31993333 | Frame-shift |
| ENST00000322652 | 31947617 | 31947685 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SUZ12 |
p-ENSG00000178691_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 |
| ENST00000322652 | 4508 | 739 | 31947617 | 31947685 | 617 | 684 | 129 | 151 |
| 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 |
| ENST00000322652 | 4508 | 739 | 31947617 | 31947685 | 617 | 684 | 129 | 151 |
| 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 |
| ENST00000322652 | 4508 | 739 | 31947617 | 31947685 | 617 | 684 | 129 | 151 |
| 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 |
| Q15022 | 129 | 151 | 1 | 739 | Chain | ID=PRO_0000047057;Note=Polycomb protein SUZ12 |
| Q15022 | 129 | 151 | 128 | 131 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WAI |
| Q15022 | 129 | 151 | 134 | 136 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WAI |
| Q15022 | 129 | 151 | 137 | 146 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WAI |
| 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 |
| Q15022 | 129 | 151 | 1 | 739 | Chain | ID=PRO_0000047057;Note=Polycomb protein SUZ12 |
| Q15022 | 129 | 151 | 128 | 131 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WAI |
| Q15022 | 129 | 151 | 134 | 136 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WAI |
| Q15022 | 129 | 151 | 137 | 146 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WAI |
| 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 |
| Q15022 | 129 | 151 | 1 | 739 | Chain | ID=PRO_0000047057;Note=Polycomb protein SUZ12 |
| Q15022 | 129 | 151 | 128 | 131 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WAI |
| Q15022 | 129 | 151 | 134 | 136 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WAI |
| Q15022 | 129 | 151 | 137 | 146 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WAI |
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3'-UTR located exon skipping events that lost miRNA binding sites in SUZ12 |
| 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 SUZ12 |
| - 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 SUZ12 |
| 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 SUZ12 |
| 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 SUZ12 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | NUP42 | exon_skip_133142 | 4.134049e-01 | 1.322285e-07 |
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RelatedDrugs for SUZ12 |
| 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 SUZ12 |
| 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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