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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 SIRT1 |
 Gene summary |
| Gene information | Gene symbol | SIRT1 | Gene ID | 23411 |
| Gene name | sirtuin 1 | |
| Synonyms | SIR2|SIR2L1|SIR2alpha | |
| Cytomap | 10q21.3 | |
| Type of gene | protein-coding | |
| Description | NAD-dependent protein deacetylase sirtuin-1SIR2-like protein 1regulatory protein SIR2 homolog 1sirtuin type 1 | |
| Modification date | 20180527 | |
| UniProtAcc | Q96EB6 | |
| Context | PubMed: SIRT1 [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 |
| SIRT1 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 12535671|15692560|20955178 |
| SIRT1 | GO:0000183 | chromatin silencing at rDNA | 18485871 |
| SIRT1 | GO:0001525 | angiogenesis | 20620956 |
| SIRT1 | GO:0002821 | positive regulation of adaptive immune response | 21890893 |
| SIRT1 | GO:0006343 | establishment of chromatin silencing | 15469825 |
| SIRT1 | GO:0006476 | protein deacetylation | 18203716|18662546|20027304|20955178 |
| SIRT1 | GO:0006974 | cellular response to DNA damage stimulus | 18203716 |
| SIRT1 | GO:0006979 | response to oxidative stress | 14976264 |
| SIRT1 | GO:0007179 | transforming growth factor beta receptor signaling pathway | 23960241 |
| SIRT1 | GO:0007346 | regulation of mitotic cell cycle | 15692560 |
| SIRT1 | GO:0016239 | positive regulation of macroautophagy | 18296641 |
| SIRT1 | GO:0016567 | protein ubiquitination | 21841822 |
| SIRT1 | GO:0016575 | histone deacetylation | 12006491|15469825|16079181|17172643 |
| SIRT1 | GO:0031648 | protein destabilization | 20955178 |
| SIRT1 | GO:0032088 | negative regulation of NF-kappaB transcription factor activity | 15152190 |
| SIRT1 | GO:0034983 | peptidyl-lysine deacetylation | 15469825 |
| SIRT1 | GO:0042542 | response to hydrogen peroxide | 19934257 |
| SIRT1 | GO:0043065 | positive regulation of apoptotic process | 15152190 |
| SIRT1 | GO:0043124 | negative regulation of I-kappaB kinase/NF-kappaB signaling | 17680780 |
| SIRT1 | GO:0043433 | negative regulation of DNA binding transcription factor activity | 11672523|20955178 |
| SIRT1 | GO:0043518 | negative regulation of DNA damage response, signal transduction by p53 class mediator | 11672523 |
| SIRT1 | GO:0043536 | positive regulation of blood vessel endothelial cell migration | 23960241 |
| SIRT1 | GO:0045348 | positive regulation of MHC class II biosynthetic process | 21890893 |
| SIRT1 | GO:0045766 | positive regulation of angiogenesis | 23960241|25217442 |
| SIRT1 | GO:0045892 | negative regulation of transcription, DNA-templated | 11672523|20074560 |
| SIRT1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 12837246|21807113 |
| SIRT1 | GO:0046628 | positive regulation of insulin receptor signaling pathway | 21241768 |
| SIRT1 | GO:0051097 | negative regulation of helicase activity | 18203716 |
| SIRT1 | GO:0070301 | cellular response to hydrogen peroxide | 20027304 |
| SIRT1 | GO:0070932 | histone H3 deacetylation | 20027304 |
| SIRT1 | GO:0071356 | cellular response to tumor necrosis factor | 15152190 |
| SIRT1 | GO:2000480 | negative regulation of cAMP-dependent protein kinase activity | 20203304 |
| SIRT1 | GO:2000757 | negative regulation of peptidyl-lysine acetylation | 20100829 |
| SIRT1 | GO:2000773 | negative regulation of cellular senescence | 20203304 |
| SIRT1 | GO:2000774 | positive regulation of cellular senescence | 18687677 |
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Exon skipping events across known transcript of Ensembl for SIRT1 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 SIRT1 |
| 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 SIRT1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_41768 | 10 | 69647174:69647291:69648639:69648881:69651159:69651254 | 69648639:69648881 | ENSG00000096717.7 | ENST00000212015.6,ENST00000497639.1 |
| exon_skip_41770 | 10 | 69647174:69647291:69651159:69651312:69666546:69666636 | 69651159:69651312 | ENSG00000096717.7 | ENST00000432464.1,ENST00000473922.1 |
| exon_skip_41772 | 10 | 69648639:69648881:69651159:69651312:69666546:69666636 | 69651159:69651312 | ENSG00000096717.7 | ENST00000212015.6 |
| exon_skip_41774 | 10 | 69651241:69651312:69665919:69666044:69666546:69666636 | 69665919:69666044 | ENSG00000096717.7 | ENST00000406900.1 |
| exon_skip_41776 | 10 | 69669012:69669199:69672230:69672788:69676021:69678143 | 69672230:69672788 | ENSG00000096717.7 | ENST00000432464.1,ENST00000212015.6,ENST00000406900.1,ENST00000403579.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SIRT1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_41768 | 10 | 69647174:69647291:69648639:69648881:69651159:69651254 | 69648639:69648881 | ENSG00000096717.7 | ENST00000212015.6,ENST00000497639.1 |
| exon_skip_41770 | 10 | 69647174:69647291:69651159:69651312:69666546:69666636 | 69651159:69651312 | ENSG00000096717.7 | ENST00000432464.1,ENST00000473922.1 |
| exon_skip_41772 | 10 | 69648639:69648881:69651159:69651312:69666546:69666636 | 69651159:69651312 | ENSG00000096717.7 | ENST00000212015.6 |
| exon_skip_41774 | 10 | 69651241:69651312:69665919:69666044:69666546:69666636 | 69665919:69666044 | ENSG00000096717.7 | ENST00000406900.1 |
| exon_skip_41776 | 10 | 69669012:69669199:69672230:69672788:69676021:69678143 | 69672230:69672788 | ENSG00000096717.7 | ENST00000212015.6,ENST00000432464.1,ENST00000406900.1,ENST00000403579.1 |
| 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 SIRT1 |
| 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 |
| ENST00000212015 | 69648639 | 69648881 | Frame-shift |
| ENST00000212015 | 69651159 | 69651312 | In-frame |
| ENST00000212015 | 69672230 | 69672788 | 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 |
| ENST00000212015 | 69648639 | 69648881 | Frame-shift |
| ENST00000212015 | 69651159 | 69651312 | In-frame |
| ENST00000212015 | 69672230 | 69672788 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SIRT1 |
| 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 |
| ENST00000212015 | 4111 | 747 | 69651159 | 69651312 | 843 | 995 | 263 | 314 |
| ENST00000212015 | 4111 | 747 | 69672230 | 69672788 | 1411 | 1968 | 452 | 638 |
| 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 |
| ENST00000212015 | 4111 | 747 | 69651159 | 69651312 | 843 | 995 | 263 | 314 |
| ENST00000212015 | 4111 | 747 | 69672230 | 69672788 | 1411 | 1968 | 452 | 638 |
| 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 |
| Q96EB6 | 263 | 314 | 273 | 275 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KXQ |
| Q96EB6 | 263 | 314 | 290 | 292 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KXQ |
| Q96EB6 | 263 | 314 | 2 | 747 | Chain | ID=PRO_0000110256;Note=NAD-dependent protein deacetylase sirtuin-1 |
| Q96EB6 | 263 | 314 | 2 | 533 | Chain | ID=PRO_0000415289;Note=SirtT1 75 kDa fragment |
| Q96EB6 | 263 | 314 | 244 | 498 | Domain | Note=Deacetylase sirtuin-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00236 |
| Q96EB6 | 263 | 314 | 262 | 268 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KXQ |
| Q96EB6 | 263 | 314 | 279 | 286 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KXQ |
| Q96EB6 | 263 | 314 | 293 | 297 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KXQ |
| Q96EB6 | 263 | 314 | 299 | 304 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KXQ |
| Q96EB6 | 263 | 314 | 307 | 312 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KXQ |
| Q96EB6 | 263 | 314 | 313 | 316 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KXQ |
| Q96EB6 | 263 | 314 | 261 | 280 | Nucleotide binding | Note=NAD;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q96EB6 | 263 | 314 | 2 | 268 | Region | Note=Interaction with HIST1H1E |
| Q96EB6 | 263 | 314 | 143 | 541 | Region | Note=Interaction with CCAR2 |
| Q96EB6 | 263 | 314 | 276 | 278 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4IG9 |
| Q96EB6 | 452 | 638 | 454 | 639 | Alternative sequence | ID=VSP_042189;Note=In isoform 2. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q96EB6 | 452 | 638 | 455 | 460 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5BTR |
| Q96EB6 | 452 | 638 | 461 | 467 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KXQ |
| Q96EB6 | 452 | 638 | 475 | 480 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KXQ |
| Q96EB6 | 452 | 638 | 515 | 517 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5BTR |
| Q96EB6 | 452 | 638 | 526 | 531 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5BTR |
| Q96EB6 | 452 | 638 | 554 | 560 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5BTR |
| Q96EB6 | 452 | 638 | 582 | 589 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5BTR |
| Q96EB6 | 452 | 638 | 599 | 604 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5BTR |
| Q96EB6 | 452 | 638 | 629 | 633 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5BTR |
| Q96EB6 | 452 | 638 | 482 | 482 | Binding site | Note=NAD%3B via amide nitrogen;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q96EB6 | 452 | 638 | 2 | 747 | Chain | ID=PRO_0000110256;Note=NAD-dependent protein deacetylase sirtuin-1 |
| Q96EB6 | 452 | 638 | 2 | 533 | Chain | ID=PRO_0000415289;Note=SirtT1 75 kDa fragment |
| Q96EB6 | 452 | 638 | 244 | 498 | Domain | Note=Deacetylase sirtuin-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00236 |
| Q96EB6 | 452 | 638 | 451 | 454 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KXQ |
| Q96EB6 | 452 | 638 | 482 | 493 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KXQ |
| Q96EB6 | 452 | 638 | 495 | 500 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KXQ |
| Q96EB6 | 452 | 638 | 502 | 507 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5BTR |
| Q96EB6 | 452 | 638 | 542 | 548 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5BTR |
| Q96EB6 | 452 | 638 | 571 | 573 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5BTR |
| Q96EB6 | 452 | 638 | 574 | 577 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5BTR |
| Q96EB6 | 452 | 638 | 606 | 616 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5BTR |
| Q96EB6 | 452 | 638 | 618 | 621 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5BTR |
| Q96EB6 | 452 | 638 | 530 | 530 | Modified residue | Note=Phosphothreonine%3B by DYRK1A%2C DYRK3 and MAPK8;Ontology_term=ECO:0000244,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PubMed:19690332,ECO:0000269|PubMed:19107194,ECO:0000269|PubMed:20027304;Dbxref=PMID:19690332,PMID:19107194,PMID:20027304 |
| Q96EB6 | 452 | 638 | 535 | 535 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19690332;Dbxref=PMID:19690332 |
| Q96EB6 | 452 | 638 | 544 | 544 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:19107194;Dbxref=PMID:19107194 |
| Q96EB6 | 452 | 638 | 545 | 545 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:19107194;Dbxref=PMID:19107194 |
| Q96EB6 | 452 | 638 | 474 | 474 | Mutagenesis | Note=Abolishes phosphorylation at Ser-47%2C restores deacetylation activity and inhibits DNA damage-induced apoptosis. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21471201;Dbxref=PMID:21471201 |
| Q96EB6 | 452 | 638 | 530 | 530 | Mutagenesis | Note=Greatly diminishes phosphorylation by MAPK8%3B when associated with A-27 and A-47. T->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19107194,ECO:0000269|PubMed:20027304;Dbxref=PMID:19107194,PMID:20027304 |
| Q96EB6 | 452 | 638 | 530 | 530 | Mutagenesis | Note=Reduces in vitro phosphorylation by CDK1. Impairs cell proliferation and cell cycle progression%3B when associated with A-540. T->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19107194,ECO:0000269|PubMed:20027304;Dbxref=PMID:191 |
| Q96EB6 | 452 | 638 | 540 | 540 | Mutagenesis | Note=Reduces in vitro phosphorylation by CDK1. Impairs cell proliferation and cell cycle progression%3B when associated with A-530. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19107194;Dbxref=PMID:19107194 |
| Q96EB6 | 452 | 638 | 484 | 484 | Natural variant | ID=VAR_051976;Note=V->D;Dbxref=dbSNP:rs1063111 |
| Q96EB6 | 452 | 638 | 465 | 467 | Nucleotide binding | Note=NAD;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q96EB6 | 452 | 638 | 143 | 541 | Region | Note=Interaction with CCAR2 |
| Q96EB6 | 452 | 638 | 538 | 540 | Region | Note=Phosphorylated at one of three serine residues |
| Q96EB6 | 452 | 638 | 549 | 551 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5BTR |
| 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 |
| Q96EB6 | 263 | 314 | 273 | 275 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KXQ |
| Q96EB6 | 263 | 314 | 290 | 292 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KXQ |
| Q96EB6 | 263 | 314 | 2 | 747 | Chain | ID=PRO_0000110256;Note=NAD-dependent protein deacetylase sirtuin-1 |
| Q96EB6 | 263 | 314 | 2 | 533 | Chain | ID=PRO_0000415289;Note=SirtT1 75 kDa fragment |
| Q96EB6 | 263 | 314 | 244 | 498 | Domain | Note=Deacetylase sirtuin-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00236 |
| Q96EB6 | 263 | 314 | 262 | 268 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KXQ |
| Q96EB6 | 263 | 314 | 279 | 286 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KXQ |
| Q96EB6 | 263 | 314 | 293 | 297 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KXQ |
| Q96EB6 | 263 | 314 | 299 | 304 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KXQ |
| Q96EB6 | 263 | 314 | 307 | 312 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KXQ |
| Q96EB6 | 263 | 314 | 313 | 316 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KXQ |
| Q96EB6 | 263 | 314 | 261 | 280 | Nucleotide binding | Note=NAD;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q96EB6 | 263 | 314 | 2 | 268 | Region | Note=Interaction with HIST1H1E |
| Q96EB6 | 263 | 314 | 143 | 541 | Region | Note=Interaction with CCAR2 |
| Q96EB6 | 263 | 314 | 276 | 278 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4IG9 |
| Q96EB6 | 452 | 638 | 454 | 639 | Alternative sequence | ID=VSP_042189;Note=In isoform 2. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q96EB6 | 452 | 638 | 455 | 460 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5BTR |
| Q96EB6 | 452 | 638 | 461 | 467 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KXQ |
| Q96EB6 | 452 | 638 | 475 | 480 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KXQ |
| Q96EB6 | 452 | 638 | 515 | 517 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5BTR |
| Q96EB6 | 452 | 638 | 526 | 531 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5BTR |
| Q96EB6 | 452 | 638 | 554 | 560 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5BTR |
| Q96EB6 | 452 | 638 | 582 | 589 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5BTR |
| Q96EB6 | 452 | 638 | 599 | 604 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5BTR |
| Q96EB6 | 452 | 638 | 629 | 633 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5BTR |
| Q96EB6 | 452 | 638 | 482 | 482 | Binding site | Note=NAD%3B via amide nitrogen;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q96EB6 | 452 | 638 | 2 | 747 | Chain | ID=PRO_0000110256;Note=NAD-dependent protein deacetylase sirtuin-1 |
| Q96EB6 | 452 | 638 | 2 | 533 | Chain | ID=PRO_0000415289;Note=SirtT1 75 kDa fragment |
| Q96EB6 | 452 | 638 | 244 | 498 | Domain | Note=Deacetylase sirtuin-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00236 |
| Q96EB6 | 452 | 638 | 451 | 454 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KXQ |
| Q96EB6 | 452 | 638 | 482 | 493 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KXQ |
| Q96EB6 | 452 | 638 | 495 | 500 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KXQ |
| Q96EB6 | 452 | 638 | 502 | 507 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5BTR |
| Q96EB6 | 452 | 638 | 542 | 548 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5BTR |
| Q96EB6 | 452 | 638 | 571 | 573 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5BTR |
| Q96EB6 | 452 | 638 | 574 | 577 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5BTR |
| Q96EB6 | 452 | 638 | 606 | 616 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5BTR |
| Q96EB6 | 452 | 638 | 618 | 621 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5BTR |
| Q96EB6 | 452 | 638 | 530 | 530 | Modified residue | Note=Phosphothreonine%3B by DYRK1A%2C DYRK3 and MAPK8;Ontology_term=ECO:0000244,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PubMed:19690332,ECO:0000269|PubMed:19107194,ECO:0000269|PubMed:20027304;Dbxref=PMID:19690332,PMID:19107194,PMID:20027304 |
| Q96EB6 | 452 | 638 | 535 | 535 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19690332;Dbxref=PMID:19690332 |
| Q96EB6 | 452 | 638 | 544 | 544 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:19107194;Dbxref=PMID:19107194 |
| Q96EB6 | 452 | 638 | 545 | 545 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:19107194;Dbxref=PMID:19107194 |
| Q96EB6 | 452 | 638 | 474 | 474 | Mutagenesis | Note=Abolishes phosphorylation at Ser-47%2C restores deacetylation activity and inhibits DNA damage-induced apoptosis. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21471201;Dbxref=PMID:21471201 |
| Q96EB6 | 452 | 638 | 530 | 530 | Mutagenesis | Note=Greatly diminishes phosphorylation by MAPK8%3B when associated with A-27 and A-47. T->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19107194,ECO:0000269|PubMed:20027304;Dbxref=PMID:19107194,PMID:20027304 |
| Q96EB6 | 452 | 638 | 530 | 530 | Mutagenesis | Note=Reduces in vitro phosphorylation by CDK1. Impairs cell proliferation and cell cycle progression%3B when associated with A-540. T->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19107194,ECO:0000269|PubMed:20027304;Dbxref=PMID:191 |
| Q96EB6 | 452 | 638 | 540 | 540 | Mutagenesis | Note=Reduces in vitro phosphorylation by CDK1. Impairs cell proliferation and cell cycle progression%3B when associated with A-530. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19107194;Dbxref=PMID:19107194 |
| Q96EB6 | 452 | 638 | 484 | 484 | Natural variant | ID=VAR_051976;Note=V->D;Dbxref=dbSNP:rs1063111 |
| Q96EB6 | 452 | 638 | 465 | 467 | Nucleotide binding | Note=NAD;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q96EB6 | 452 | 638 | 143 | 541 | Region | Note=Interaction with CCAR2 |
| Q96EB6 | 452 | 638 | 538 | 540 | Region | Note=Phosphorylated at one of three serine residues |
| Q96EB6 | 452 | 638 | 549 | 551 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5BTR |
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SNVs in the skipped exons for SIRT1 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
 |
| - 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 |
| KICH | TCGA-KO-8410-01 | exon_skip_41768 | 69648640 | 69648881 | 69648852 | 69648852 | Frame_Shift_Del | A | - | p.K254fs |
| PRAD | TCGA-KK-A59V-01 | exon_skip_41768 | 69648640 | 69648881 | 69648852 | 69648852 | Frame_Shift_Del | A | - | p.C253X |
| KIRC | TCGA-CZ-5982-01 | exon_skip_41776 | 69672231 | 69672788 | 69672600 | 69672600 | Frame_Shift_Del | A | - | p.E576fs |
| KIRC | TCGA-CZ-5982-01 | exon_skip_41776 | 69672231 | 69672788 | 69672600 | 69672600 | Frame_Shift_Del | A | - | p.E577fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_41776 | 69672231 | 69672788 | 69672559 | 69672560 | Frame_Shift_Ins | - | A | p.*563fs |
| SARC | TCGA-QC-A7B5-01 | exon_skip_41768 | 69648640 | 69648881 | 69648754 | 69648754 | Nonsense_Mutation | G | A | p.W221* |
| CESC | TCGA-IR-A3LH-01 | exon_skip_41768 | 69648640 | 69648881 | 69648778 | 69648778 | Nonsense_Mutation | C | G | p.S229* |
| UCEC | TCGA-B5-A0JY-01 | exon_skip_41776 | 69672231 | 69672788 | 69672272 | 69672272 | Nonsense_Mutation | G | T | p.E172* |
| STAD | TCGA-FP-8099-01 | exon_skip_41776 | 69672231 | 69672788 | 69672419 | 69672419 | Nonsense_Mutation | C | T | p.R516* |
| STAD | TCGA-FP-8099-01 | exon_skip_41776 | 69672231 | 69672788 | 69672419 | 69672419 | Nonsense_Mutation | C | T | p.R516X |
| UCEC | TCGA-AX-A05Z-01 | exon_skip_41776 | 69672231 | 69672788 | 69672431 | 69672431 | Nonsense_Mutation | G | T | p.E225* |
| - 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 |
| IM95_STOMACH | 69648640 | 69648881 | 69648795 | 69648795 | Frame_Shift_Del | A | - | p.K236fs |
| DV90_LUNG | 69648640 | 69648881 | 69648852 | 69648852 | Frame_Shift_Del | A | - | p.K255fs |
| SNU1033_LARGE_INTESTINE | 69648640 | 69648881 | 69648794 | 69648795 | Frame_Shift_Ins | - | A | p.K235fs |
| SNGM_ENDOMETRIUM | 69648640 | 69648881 | 69648688 | 69648688 | Missense_Mutation | G | A | p.R199Q |
| C75_LARGE_INTESTINE | 69648640 | 69648881 | 69648712 | 69648712 | Missense_Mutation | C | A | p.P207Q |
| SNU81_LARGE_INTESTINE | 69648640 | 69648881 | 69648805 | 69648805 | Missense_Mutation | A | C | p.K238T |
| SCC4_UPPER_AERODIGESTIVE_TRACT | 69651160 | 69651312 | 69651179 | 69651179 | Missense_Mutation | T | A | p.I270K |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 69672231 | 69672788 | 69672305 | 69672305 | Missense_Mutation | C | G | p.L478V |
| TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 69672231 | 69672788 | 69672312 | 69672312 | Missense_Mutation | G | A | p.G480E |
| HEC251_ENDOMETRIUM | 69672231 | 69672788 | 69672339 | 69672339 | Missense_Mutation | T | C | p.L489S |
| NCIH1836_LUNG | 69672231 | 69672788 | 69672357 | 69672357 | Missense_Mutation | G | A | p.G495D |
| SNUC2A_LARGE_INTESTINE | 69672231 | 69672788 | 69672366 | 69672366 | Missense_Mutation | C | T | p.A498V |
| JHUEM7_ENDOMETRIUM | 69672231 | 69672788 | 69672420 | 69672420 | Missense_Mutation | G | A | p.R516Q |
| HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 69672231 | 69672788 | 69672747 | 69672747 | Missense_Mutation | C | T | p.P625L |
| NCIH146_LUNG | 69672231 | 69672788 | 69672769 | 69672769 | Missense_Mutation | G | T | p.Q632H |
| HCC2998_LARGE_INTESTINE | 69672231 | 69672788 | 69672431 | 69672431 | Nonsense_Mutation | G | T | p.E520* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SIRT1 |
| 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 SIRT1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SIRT1 |
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RelatedDrugs for SIRT1 |
| 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 SIRT1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| SIRT1 | C0015695 | Fatty Liver | 5 | CTD_human |
| SIRT1 | C0021655 | Insulin Resistance | 5 | CTD_human |
| SIRT1 | C0009319 | Colitis | 3 | CTD_human |
| SIRT1 | C0005586 | Bipolar Disorder | 2 | PSYGENET |
| SIRT1 | C0011853 | Diabetes Mellitus, Experimental | 2 | CTD_human |
| SIRT1 | C0036341 | Schizophrenia | 2 | PSYGENET |
| SIRT1 | C0524851 | Neurodegenerative Disorders | 2 | CTD_human |
| SIRT1 | C0525045 | Mood Disorders | 2 | PSYGENET |
| SIRT1 | C0004153 | Atherosclerosis | 1 | CTD_human |
| SIRT1 | C0004364 | Autoimmune Diseases | 1 | CTD_human |
| SIRT1 | C0006118 | Brain Neoplasms | 1 | CTD_human |
| SIRT1 | C0011303 | Demyelinating Diseases | 1 | CTD_human |
| SIRT1 | C0011849 | Diabetes Mellitus | 1 | CTD_human |
| SIRT1 | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 1 | CTD_human |
| SIRT1 | C0011884 | Diabetic Retinopathy | 1 | CTD_human |
| SIRT1 | C0014072 | Experimental Autoimmune Encephalomyelitis | 1 | CTD_human |
| SIRT1 | C0016059 | Fibrosis | 1 | CTD_human |
| SIRT1 | C0018799 | Heart Diseases | 1 | CTD_human |
| SIRT1 | C0018801 | Heart failure | 1 | CTD_human |
| SIRT1 | C0019693 | HIV Infections | 1 | CTD_human |
| SIRT1 | C0020564 | Hypertrophy | 1 | CTD_human |
| SIRT1 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| SIRT1 | C0027055 | Myocardial Reperfusion Injury | 1 | CTD_human |
| SIRT1 | C0027746 | Nerve Degeneration | 1 | CTD_human |
| SIRT1 | C0028754 | Obesity | 1 | CTD_human |
| SIRT1 | C0032285 | Pneumonia | 1 | CTD_human |
| SIRT1 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| SIRT1 | C0033937 | Psychoses, Drug | 1 | PSYGENET |
| SIRT1 | C0035309 | Retinal Diseases | 1 | CTD_human |
| SIRT1 | C0036421 | Systemic Scleroderma | 1 | CTD_human |
| SIRT1 | C0036939 | Shared Paranoid Disorder | 1 | PSYGENET |
| SIRT1 | C0040053 | Thrombosis | 1 | CTD_human |
| SIRT1 | C0043020 | Wallerian Degeneration | 1 | CTD_human |
| SIRT1 | C0085762 | Alcohol abuse | 1 | PSYGENET |
| SIRT1 | C0155862 | Streptococcal pneumonia | 1 | CTD_human |
| SIRT1 | C0271650 | Impaired glucose tolerance | 1 | CTD_human |
| SIRT1 | C0273115 | Lung Injury | 1 | CTD_human |
| SIRT1 | C0400966 | Non-alcoholic Fatty Liver Disease | 1 | CTD_human |
| SIRT1 | C0522224 | Paralysed | 1 | CTD_human |
| SIRT1 | C0524620 | Metabolic Syndrome X | 1 | CTD_human |
| SIRT1 | C0751955 | Brain Infarction | 1 | CTD_human |
| SIRT1 | C0919532 | Genomic Instability | 1 | CTD_human |
| SIRT1 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
| SIRT1 | C2609414 | Acute kidney injury | 1 | CTD_human |
| SIRT1 | C2931673 | Ceroid lipofuscinosis, neuronal 1, infantile | 1 | CTD_human |
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