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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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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|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 factorinhibitor of granzyme A-activated DNaseinhibitor-2 of protein phosphatase-2Aphosphat | |
| Modification date | 20180522 | |
| UniProtAcc | Q01105 | |
| Context | PubMed: SET [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| 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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Exon skipping events across known transcript of Ensembl for SET from UCSC genome browser |
| Skipped 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. |
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Gene isoform structures and expression levels for SET |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for SET |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_499814 | 9 | 131451504:131451934:131453448:131453506:131454136:131454197 | 131453448:131453506 | ENSG00000119335.12 | ENST00000322030.8 |
| exon_skip_499817 | 9 | 131455146:131455260:131455916:131456087:131456174:131456277 | 131455916:131456087 | ENSG00000119335.12 | ENST00000372686.5,ENST00000322030.8,ENST00000477806.1,ENST00000372692.4,ENST00000372688.4,ENST00000409104.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SET |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_499814 | 9 | 131451504:131451934:131453448:131453506:131454136:131454197 | 131453448:131453506 | ENSG00000119335.12 | ENST00000322030.8 |
| exon_skip_499817 | 9 | 131455146:131455260:131455916:131456087:131456174:131456277 | 131455916:131456087 | ENSG00000119335.12 | ENST00000372692.4,ENST00000409104.3,ENST00000322030.8,ENST00000372688.4,ENST00000372686.5,ENST00000477806.1 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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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 TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000372692 | 131455916 | 131456087 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000372692 | 131455916 | 131456087 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SET |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA 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 | 131455916 | 131456087 | 773 | 943 | 177 | 234 |
| Loci of skipped exons in GTEx 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 | 131455916 | 131456087 | 773 | 943 | 177 | 234 |
| 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 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 GTEx. |
| 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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SNVs in the skipped exons for SET |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - 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 |
| LCLC97TM1_LUNG | 131453449 | 131453506 | 131453478 | 131453478 | Missense_Mutation | A | G | p.I48V |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 131453449 | 131453506 | 131453502 | 131453502 | Missense_Mutation | G | A | p.D56N |
| HT55_LARGE_INTESTINE | 131455917 | 131456087 | 131455984 | 131455984 | Missense_Mutation | A | C | p.E200A |
| CAS1_CENTRAL_NERVOUS_SYSTEM | 131455917 | 131456087 | 131456053 | 131456053 | Missense_Mutation | A | T | p.D223V |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SET |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SET |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SET |
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RelatedDrugs for SET |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | 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 |
| SET | C0027540 | Necrosis | 1 | CTD_human |
| SET | C0027626 | Neoplasm Invasiveness | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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