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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 SET |
 Gene summary |
| Gene information | Gene symbol | SET | Gene ID | 6418 |
| Gene name | SET nuclear proto-oncogene | |
| Synonyms | 2PP2A|I2PP2A|IGAAD|IPP2A2|MRD58|PHAPII|TAF-I|TAF-IBETA | |
| Cytomap | 9q34.11 | |
| Type of gene | protein-coding | |
| Description | protein SETHLA-DR-associated protein IISET nuclear oncogeneSET translocation (myeloid leukemia-associated)Template-Activating Factor-I, chromatin remodelling factorchromatin remodelling factorinhibitor of granzyme A-activated DNaseinhibitor-2 of pr | |
| Modification date | 20200313 | |
| 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 |
| SET | GO:0045892 | negative regulation of transcription, DNA-templated | 19343227 |
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Gene structures and expression levels for SET |
| 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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ENSG00000119335
| 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 | DOWN | ENST00000372692.8 | SET-204:protein_coding:SET | 8.167476e+02 | -1.268989e+00 | 9.851097e-12 | 9.613100e-10 |
| 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 SET |
| 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_276469 | chr9 | 128692868:128692981:128693638:128693808:128693896:128693922 | 128693638:128693808 |
| exon_skip_279737 | chr9 | 128692868:128692981:128693638:128693808:128693896:128693966 | 128693638:128693808 |
| exon_skip_291856 | chr9 | 128692868:128692981:128693638:128693808:128693896:128693906 | 128693638:128693808 |
| exon_skip_99220 | chr9 | 128692868:128692981:128693638:128693808:128693896:128693998 | 128693638:128693808 |
| 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 SET |
| 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 |
| ENST00000372692 | 128693638 | 128693808 | 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 |
| ENST00000372692 | 128693638 | 128693808 | 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 |
| ENST00000372692 | 128693638 | 128693808 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SET |
p-ENSG00000119335_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 |
| ENST00000372692 | 2867 | 290 | 128693638 | 128693808 | 774 | 943 | 177 | 234 |
| 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 |
| ENST00000372692 | 2867 | 290 | 128693638 | 128693808 | 774 | 943 | 177 | 234 |
| 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 |
| ENST00000372692 | 2867 | 290 | 128693638 | 128693808 | 774 | 943 | 177 | 234 |
| 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 |
| Q01105 | 177 | 234 | 2 | 290 | Chain | ID=PRO_0000185662;Note=Protein SET |
| Q01105 | 177 | 234 | 203 | 206 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E50 |
| Q01105 | 177 | 234 | 215 | 223 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E50 |
| Q01105 | 177 | 234 | 230 | 233 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E50 |
| Q01105 | 177 | 234 | 233 | 290 | Natural variant | ID=VAR_078653;Note=Probable disease-associated mutation found in a patient with congenital microcephaly and moderate intellecutal disability. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25356899;Dbxref=PMID:25356899 |
| Q01105 | 177 | 234 | 79 | 225 | Region | Note=Earmuff domain |
| Q01105 | 177 | 234 | 224 | 227 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E50 |
| 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 |
| Q01105 | 177 | 234 | 2 | 290 | Chain | ID=PRO_0000185662;Note=Protein SET |
| Q01105 | 177 | 234 | 203 | 206 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E50 |
| Q01105 | 177 | 234 | 215 | 223 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E50 |
| Q01105 | 177 | 234 | 230 | 233 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E50 |
| Q01105 | 177 | 234 | 233 | 290 | Natural variant | ID=VAR_078653;Note=Probable disease-associated mutation found in a patient with congenital microcephaly and moderate intellecutal disability. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25356899;Dbxref=PMID:25356899 |
| Q01105 | 177 | 234 | 79 | 225 | Region | Note=Earmuff domain |
| Q01105 | 177 | 234 | 224 | 227 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E50 |
| 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 |
| Q01105 | 177 | 234 | 2 | 290 | Chain | ID=PRO_0000185662;Note=Protein SET |
| Q01105 | 177 | 234 | 203 | 206 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E50 |
| Q01105 | 177 | 234 | 215 | 223 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E50 |
| Q01105 | 177 | 234 | 230 | 233 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E50 |
| Q01105 | 177 | 234 | 233 | 290 | Natural variant | ID=VAR_078653;Note=Probable disease-associated mutation found in a patient with congenital microcephaly and moderate intellecutal disability. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25356899;Dbxref=PMID:25356899 |
| Q01105 | 177 | 234 | 79 | 225 | Region | Note=Earmuff domain |
| Q01105 | 177 | 234 | 224 | 227 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E50 |
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3'-UTR located exon skipping events that lost miRNA binding sites in SET |
| 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 SET |
| - 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 SET |
| 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 SET |
| 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 SET |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for SET |
| 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 SET |
| 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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