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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 MTOR |
 Gene summary |
| Gene information | Gene symbol | MTOR | Gene ID | 2475 |
| Gene name | mechanistic target of rapamycin kinase | |
| Synonyms | FRAP|FRAP1|FRAP2|RAFT1|RAPT1|SKS | |
| Cytomap | 1p36.22 | |
| Type of gene | protein-coding | |
| Description | serine/threonine-protein kinase mTORFK506 binding protein 12-rapamycin associated protein 2FK506-binding protein 12-rapamycin complex-associated protein 1FKBP-rapamycin associated proteinFKBP12-rapamycin complex-associated protein 1mammalian target o | |
| 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 |
| MTOR | GO:0001558 | regulation of cell growth | 18762023 |
| MTOR | GO:0001934 | positive regulation of protein phosphorylation | 20233713 |
| MTOR | GO:0006468 | protein phosphorylation | 12150926|15467718|18925875 |
| MTOR | GO:0009267 | cellular response to starvation | 28223137 |
| MTOR | GO:0010507 | negative regulation of autophagy | 30704899 |
| MTOR | GO:0016242 | negative regulation of macroautophagy | 25327288 |
| MTOR | GO:0016310 | phosphorylation | 11853878|25327288 |
| MTOR | GO:0031667 | response to nutrient levels | 29750193 |
| MTOR | GO:0034198 | cellular response to amino acid starvation | 22424946 |
| MTOR | GO:0038202 | TORC1 signaling | 28223137 |
| MTOR | GO:0043200 | response to amino acid | 18497260 |
| MTOR | GO:0045727 | positive regulation of translation | 18762023 |
| MTOR | GO:0046777 | protein autophosphorylation | 15467718 |
| MTOR | GO:0071230 | cellular response to amino acid stimulus | 22424946 |
| MTOR | GO:0071233 | cellular response to leucine | 22424946 |
| MTOR | GO:1990253 | cellular response to leucine starvation | 22424946 |
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Gene structures and expression levels for MTOR |
| 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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ENSG00000198793
| 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 MTOR |
| 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_100119 | chr1 | 11146676:11146791:11150126:11150226:11157152:11157291 | 11150126:11150226 |
| exon_skip_103330 | chr1 | 11124498:11124633:11126622:11126796:11127010:11127144 | 11126622:11126796 |
| exon_skip_115781 | chr1 | 11133080:11133197:11134351:11134466:11139304:11139435 | 11134351:11134466 |
| exon_skip_144090 | chr1 | 11157152:11157291:11167442:11167517:11199258:11199403 | 11167442:11167517 |
| exon_skip_15267 | chr1 | 11121979:11122126:11124498:11124633:11126622:11126796 | 11124498:11124633 |
| exon_skip_153376 | chr1 | 11144968:11145045:11146676:11146791:11150126:11150226 | 11146676:11146791 |
| exon_skip_21109 | chr1 | 11255992:11256192:11256933:11257165:11258485:11258593 | 11256933:11257165 |
| exon_skip_219267 | chr1 | 11213399:11213566:11216148:11216234:11228668:11228918 | 11216148:11216234 |
| exon_skip_224064 | chr1 | 11115396:11115468:11117004:11117086:11121246:11121368 | 11117004:11117086 |
| exon_skip_241574 | chr1 | 11243114:11243300:11247625:11247733:11247819:11248094 | 11247625:11247733 |
| exon_skip_258466 | chr1 | 11133087:11133197:11134351:11134466:11139304:11139435 | 11134351:11134466 |
| exon_skip_279876 | chr1 | 11167442:11167517:11199258:11199403:11199541:11199703 | 11199258:11199403 |
| exon_skip_282105 | chr1 | 11144648:11144755:11144968:11145045:11146676:11146791 | 11144968:11145045 |
| exon_skip_51790 | chr1 | 11109649:11109729:11111514:11111753:11112852:11112917 | 11111514:11111753 |
| exon_skip_57339 | chr1 | 11109649:11109729:11111514:11111753:11112852:11112905 | 11111514:11111753 |
| exon_skip_70855 | chr1 | 11247819:11248094:11253839:11253973:11255992:11256192 | 11253839:11253973 |
| 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 MTOR |
| 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 |
| ENST00000361445 | 11117004 | 11117086 | Frame-shift |
| ENST00000361445 | 11134351 | 11134466 | Frame-shift |
| ENST00000361445 | 11146676 | 11146791 | Frame-shift |
| ENST00000361445 | 11150126 | 11150226 | Frame-shift |
| ENST00000361445 | 11247625 | 11247733 | Frame-shift |
| ENST00000361445 | 11256933 | 11257165 | Frame-shift |
| ENST00000361445 | 11253839 | 11253973 | 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 |
| ENST00000361445 | 11117004 | 11117086 | Frame-shift |
| ENST00000361445 | 11126622 | 11126796 | Frame-shift |
| ENST00000361445 | 11134351 | 11134466 | Frame-shift |
| ENST00000361445 | 11247625 | 11247733 | Frame-shift |
| ENST00000361445 | 11256933 | 11257165 | Frame-shift |
| ENST00000361445 | 11253839 | 11253973 | 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 |
| ENST00000361445 | 11117004 | 11117086 | Frame-shift |
| ENST00000361445 | 11124498 | 11124633 | Frame-shift |
| ENST00000361445 | 11134351 | 11134466 | Frame-shift |
| ENST00000361445 | 11146676 | 11146791 | Frame-shift |
| ENST00000361445 | 11150126 | 11150226 | Frame-shift |
| ENST00000361445 | 11167442 | 11167517 | Frame-shift |
| ENST00000361445 | 11199258 | 11199403 | Frame-shift |
| ENST00000361445 | 11247625 | 11247733 | Frame-shift |
| ENST00000361445 | 11256933 | 11257165 | Frame-shift |
| ENST00000361445 | 11144968 | 11145045 | In-frame |
| ENST00000361445 | 11216148 | 11216234 | In-frame |
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Infer the effects of exon skipping event on protein functional features for MTOR |
p-ENSG00000198793_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 |
| ENST00000361445 | 8694 | 2549 | 11253839 | 11253973 | 783 | 916 | 235 | 279 |
| 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 |
| ENST00000361445 | 8694 | 2549 | 11253839 | 11253973 | 783 | 916 | 235 | 279 |
| 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 |
| ENST00000361445 | 8694 | 2549 | 11216148 | 11216234 | 3108 | 3193 | 1010 | 1038 |
| ENST00000361445 | 8694 | 2549 | 11144968 | 11145045 | 4764 | 4840 | 1562 | 1587 |
| 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 |
| P42345 | 235 | 279 | 1 | 2549 | Chain | ID=PRO_0000088808;Note=Serine/threonine-protein kinase mTOR |
| P42345 | 235 | 279 | 1 | 651 | Region | Note=Interaction with NBN;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23762398;Dbxref=PMID:23762398 |
| P42345 | 235 | 279 | 222 | 276 | Repeat | Note=HEAT 6 |
| P42345 | 235 | 279 | 277 | 313 | Repeat | Note=HEAT 7 |
| 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 |
| P42345 | 235 | 279 | 1 | 2549 | Chain | ID=PRO_0000088808;Note=Serine/threonine-protein kinase mTOR |
| P42345 | 235 | 279 | 1 | 651 | Region | Note=Interaction with NBN;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23762398;Dbxref=PMID:23762398 |
| P42345 | 235 | 279 | 222 | 276 | Repeat | Note=HEAT 6 |
| P42345 | 235 | 279 | 277 | 313 | Repeat | Note=HEAT 7 |
| 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 |
| P42345 | 1010 | 1038 | 1 | 2549 | Chain | ID=PRO_0000088808;Note=Serine/threonine-protein kinase mTOR |
| P42345 | 1010 | 1038 | 989 | 1027 | Repeat | Note=HEAT 24 |
| P42345 | 1010 | 1038 | 1029 | 1068 | Repeat | Note=HEAT 25 |
| P42345 | 1562 | 1587 | 1 | 2549 | Chain | ID=PRO_0000088808;Note=Serine/threonine-protein kinase mTOR |
| P42345 | 1562 | 1587 | 1382 | 1982 | Domain | Note=FAT;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00534 |
| P42345 | 1562 | 1587 | 1557 | 1577 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WBY |
| P42345 | 1562 | 1587 | 1587 | 1605 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WBY |
| P42345 | 1562 | 1587 | 1542 | 1574 | Repeat | Note=TPR 7 |
| P42345 | 1562 | 1587 | 1575 | 1614 | Repeat | Note=TPR 8 |
| P42345 | 1562 | 1587 | 1584 | 1586 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WBY |
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3'-UTR located exon skipping events that lost miRNA binding sites in MTOR |
| 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 MTOR |
| - 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 MTOR |
| 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 MTOR |
| 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 MTOR |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | RBM4 | exon_skip_115781 | -4.717246e-01 | 8.541457e-10 |
| IFG | RALYL | exon_skip_224064 | 4.679037e-01 | 1.384627e-02 |
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RelatedDrugs for MTOR |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| P42345 | approved|investigational | DB00337 | Pimecrolimus | small molecule | P42345 |
| P42345 | approved|investigational | DB00877 | Sirolimus | small molecule | P42345 |
| P42345 | approved | DB01590 | Everolimus | small molecule | P42345 |
| P42345 | approved | DB06287 | Temsirolimus | small molecule | P42345 |
| P42345 | approved|investigational | DB12010 | Fostamatinib | small molecule | P42345 |
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RelatedDiseases for MTOR |
| 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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