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Center for Computational Systems Medicine
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Gene summary

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Gene structures and expression levels

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Exon skipping events with PSIs in TCGA

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Exon skipping events with PSIs in GTEx

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Open reading frame (ORF) annotation in the exon skipping event

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Exon skipping events in the canonical protein sequence

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SNVs in the skipped exons with depth of coverage

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon

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Related drugs with this gene

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Related diseases with this gene

Gene summary for TSC1

check button Gene summary
Gene informationGene symbol

TSC1

Gene ID

7248

Gene nameTSC complex subunit 1
SynonymsLAM|TSC
Cytomap

9q34.13

Type of geneprotein-coding
Descriptionhamartintuberous sclerosis 1 protein
Modification date20180523
UniProtAcc

Q92574

ContextPubMed: TSC1 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract]
- Title (PMID)

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed ID
TSC1

GO:0006417

regulation of translation

17308101

TSC1

GO:0032780

negative regulation of ATPase activity

29127155

TSC1

GO:0032868

response to insulin

16996505

TSC1

GO:0050821

protein stabilization

11175345

TSC1

GO:0051492

regulation of stress fiber assembly

10806479

TSC1

GO:0051894

positive regulation of focal adhesion assembly

10806479

TSC1

GO:0090630

activation of GTPase activity

10806479


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Exon skipping events across known transcript of Ensembl for TSC1 from UCSC genome browser

check buttonSkipped 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.
all structure

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Gene isoform structures and expression levels for TSC1

check button Expression levels of gene isoforms across TCGA.
gencode gene structure

check button Expression levels of gene isoforms across GTEx.
gencode gene structure


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Exon skipping events with PSIs in TCGA for TSC1

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_5079329135766736:135772141:135772570:135772732:135772809:135772997135772570:135772732ENSG00000165699.9ENST00000298552.3,ENST00000440111.2,ENST00000545250.1
exon_skip_5079339135772809:135772997:135776101:135776224:135776975:135777086135776101:135776224ENSG00000165699.9ENST00000298552.3,ENST00000440111.2,ENST00000545250.1
exon_skip_5079359135777991:135778174:135779037:135779204:135779797:135779841135779037:135779204ENSG00000165699.9ENST00000298552.3,ENST00000440111.2,ENST00000545250.1
exon_skip_5079369135779037:135779204:135779797:135779841:135780967:135781526135779797:135779841ENSG00000165699.9ENST00000298552.3,ENST00000440111.2,ENST00000545250.1
exon_skip_5079399135780967:135781526:135782117:135782222:135782687:135782757135782117:135782222ENSG00000165699.9ENST00000298552.3,ENST00000440111.2,ENST00000545250.1
exon_skip_5079419135782687:135782757:135785957:135786079:135786388:135786500135785957:135786079ENSG00000165699.9ENST00000298552.3,ENST00000440111.2,ENST00000545250.1
exon_skip_5079439135785957:135786079:135786388:135786500:135786839:135786955135786388:135786500ENSG00000165699.9ENST00000493467.1,ENST00000298552.3,ENST00000440111.2,ENST00000545250.1
exon_skip_5079449135787668:135787844:135796749:135796823:135797205:135797360135796749:135796823ENSG00000165699.9ENST00000403810.1,ENST00000493467.1,ENST00000298552.3,ENST00000440111.2,ENST00000545250.1
exon_skip_5079469135798734:135798879:135800973:135801126:135802587:135802691135800973:135801126ENSG00000165699.9ENST00000403810.1,ENST00000475903.1,ENST00000493467.1,ENST00000298552.3,ENST00000440111.2
exon_skip_5079489135798734:135798879:135802587:135802691:135804153:135804339135802587:135802691ENSG00000165699.9ENST00000545250.1
exon_skip_5079499135800973:135801126:135802587:135802691:135804153:135804339135802587:135802691ENSG00000165699.9ENST00000403810.1,ENST00000475903.1,ENST00000490179.2,ENST00000493467.1,ENST00000298552.3,ENST00000440111.2
exon_skip_5079509135804153:135804339:135806595:135806691:135810419:135810482135806595:135806691ENSG00000165699.9ENST00000490179.2
exon_skip_5079519135804153:135804339:135810419:135810482:135819929:135819982135810419:135810482ENSG00000165699.9ENST00000403810.1,ENST00000493467.1

check button PSI values of skipped exons in TCGA.
psi tcga

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Exon skipping events with PSIs in GTEx for TSC1

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_5079329135766736:135772141:135772570:135772732:135772809:135772997135772570:135772732ENSG00000165699.9ENST00000298552.3,ENST00000440111.2,ENST00000545250.1
exon_skip_5079339135772809:135772997:135776101:135776224:135776975:135777086135776101:135776224ENSG00000165699.9ENST00000298552.3,ENST00000440111.2,ENST00000545250.1
exon_skip_5079359135777991:135778174:135779037:135779204:135779797:135779841135779037:135779204ENSG00000165699.9ENST00000298552.3,ENST00000440111.2,ENST00000545250.1
exon_skip_5079369135779037:135779204:135779797:135779841:135780967:135781526135779797:135779841ENSG00000165699.9ENST00000298552.3,ENST00000440111.2,ENST00000545250.1
exon_skip_5079399135780967:135781526:135782117:135782222:135782687:135782757135782117:135782222ENSG00000165699.9ENST00000298552.3,ENST00000440111.2,ENST00000545250.1
exon_skip_5079419135782687:135782757:135785957:135786079:135786388:135786500135785957:135786079ENSG00000165699.9ENST00000298552.3,ENST00000440111.2,ENST00000545250.1
exon_skip_5079439135785957:135786079:135786388:135786500:135786839:135786955135786388:135786500ENSG00000165699.9ENST00000298552.3,ENST00000440111.2,ENST00000545250.1,ENST00000493467.1
exon_skip_5079449135787668:135787844:135796749:135796823:135797205:135797360135796749:135796823ENSG00000165699.9ENST00000298552.3,ENST00000440111.2,ENST00000545250.1,ENST00000493467.1,ENST00000403810.1
exon_skip_5079469135798734:135798879:135800973:135801126:135802587:135802691135800973:135801126ENSG00000165699.9ENST00000298552.3,ENST00000440111.2,ENST00000493467.1,ENST00000403810.1,ENST00000475903.1
exon_skip_5079489135798734:135798879:135802587:135802691:135804153:135804339135802587:135802691ENSG00000165699.9ENST00000545250.1
exon_skip_5079499135800973:135801126:135802587:135802691:135804153:135804339135802587:135802691ENSG00000165699.9ENST00000298552.3,ENST00000440111.2,ENST00000493467.1,ENST00000403810.1,ENST00000475903.1,ENST00000490179.2
exon_skip_5079519135804153:135804339:135810419:135810482:135819929:135819982135810419:135810482ENSG00000165699.9ENST00000493467.1,ENST00000403810.1

check button PSI values of skipped exons in GTEx.
psi gtex

* Skipped exon sequences.

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Open reading frame (ORF) annotation in the exon skipping event for TSC1

check button Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST00000298552135779037135779204Frame-shift
ENST00000440111135779037135779204Frame-shift
ENST00000298552135779797135779841Frame-shift
ENST00000440111135779797135779841Frame-shift
ENST00000298552135785957135786079Frame-shift
ENST00000440111135785957135786079Frame-shift
ENST00000298552135786388135786500Frame-shift
ENST00000440111135786388135786500Frame-shift
ENST00000298552135796749135796823Frame-shift
ENST00000440111135796749135796823Frame-shift
ENST00000298552135802587135802691Frame-shift
ENST00000440111135802587135802691Frame-shift
ENST00000298552135772570135772732In-frame
ENST00000440111135772570135772732In-frame
ENST00000298552135776101135776224In-frame
ENST00000440111135776101135776224In-frame
ENST00000298552135782117135782222In-frame
ENST00000440111135782117135782222In-frame
ENST00000298552135800973135801126In-frame
ENST00000440111135800973135801126In-frame

check button Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST00000298552135779037135779204Frame-shift
ENST00000440111135779037135779204Frame-shift
ENST00000298552135779797135779841Frame-shift
ENST00000440111135779797135779841Frame-shift
ENST00000298552135785957135786079Frame-shift
ENST00000440111135785957135786079Frame-shift
ENST00000298552135786388135786500Frame-shift
ENST00000440111135786388135786500Frame-shift
ENST00000298552135796749135796823Frame-shift
ENST00000440111135796749135796823Frame-shift
ENST00000298552135802587135802691Frame-shift
ENST00000440111135802587135802691Frame-shift
ENST00000298552135772570135772732In-frame
ENST00000440111135772570135772732In-frame
ENST00000298552135776101135776224In-frame
ENST00000440111135776101135776224In-frame
ENST00000298552135782117135782222In-frame
ENST00000440111135782117135782222In-frame
ENST00000298552135800973135801126In-frame
ENST00000440111135800973135801126In-frame

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Infer the effects of exon skipping event on protein functional features for TSC1

check button Exon skipping at the protein sequence level and followed lost functional features.
* Click on the image to enlarge it in a new window.
prot feature distribution

check button Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST000002985528621116413580097313580112643358570121
ENST000004401118480116413580097313580112629444670121
ENST000002985528621116413578211713578222215561660444479
ENST000004401118480116413578211713578222214171521444479
ENST000002985528621116413577610113577622427252847834875
ENST000004401118480116413577610113577622425862708834875
ENST000002985528621116413577257013577273230363197938991
ENST000004401118480116413577257013577273228973058938991

check button Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST000002985528621116413580097313580112643358570121
ENST000004401118480116413580097313580112629444670121
ENST000002985528621116413578211713578222215561660444479
ENST000004401118480116413578211713578222214171521444479
ENST000002985528621116413577610113577622427252847834875
ENST000004401118480116413577610113577622425862708834875
ENST000002985528621116413577257013577273230363197938991
ENST000004401118480116413577257013577273228973058938991

check button 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 featureDescription of feature
Q925747012170120Alternative sequenceID=VSP_042890;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q925747012170120Alternative sequenceID=VSP_042890;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q925747012111164ChainID=PRO_0000065651;Note=Hamartin
Q925747012111164ChainID=PRO_0000065651;Note=Hamartin
Q92574701217272Natural variantID=VAR_054387;Note=In TSC1. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10533069;Dbxref=dbSNP:rs118203354,PMID:10533069
Q92574701217272Natural variantID=VAR_054387;Note=In TSC1. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10533069;Dbxref=dbSNP:rs118203354,PMID:10533069
Q9257470121117117Natural variantID=VAR_070637;Note=In TSC1%3B reduced expression%3B altered subcellular localization%3B reduced interaction with TSC2%3B reduced inhibition of TORC1 signaling. L->P;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18830229,ECO
Q9257470121117117Natural variantID=VAR_070637;Note=In TSC1%3B reduced expression%3B altered subcellular localization%3B reduced interaction with TSC2%3B reduced inhibition of TORC1 signaling. L->P;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18830229,ECO
Q9257444447911164ChainID=PRO_0000065651;Note=Hamartin
Q9257444447911164ChainID=PRO_0000065651;Note=Hamartin
Q925744444791651164Natural variantID=VAR_078845;Note=In TSC1. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11829138;Dbxref=PMID:11829138
Q925744444791651164Natural variantID=VAR_078845;Note=In TSC1. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11829138;Dbxref=PMID:11829138
Q92574444479448448Natural variantID=VAR_070651;Note=Rare polymorphism%3B no effect on expression%3B no effect on subcellular localization%3B no effect on inhibition of TORC1 signaling. P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22161988;Dbxref=dbSNP:rs118203518,PMID:22161
Q92574444479448448Natural variantID=VAR_070651;Note=Rare polymorphism%3B no effect on expression%3B no effect on subcellular localization%3B no effect on inhibition of TORC1 signaling. P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22161988;Dbxref=dbSNP:rs118203518,PMID:22161
Q9257483487511164ChainID=PRO_0000065651;Note=Hamartin
Q9257483487511164ChainID=PRO_0000065651;Note=Hamartin
Q92574834875721997Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q92574834875721997Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q925748348751651164Natural variantID=VAR_078845;Note=In TSC1. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11829138;Dbxref=PMID:11829138
Q925748348751651164Natural variantID=VAR_078845;Note=In TSC1. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11829138;Dbxref=PMID:11829138
Q9257493899111164ChainID=PRO_0000065651;Note=Hamartin
Q9257493899111164ChainID=PRO_0000065651;Note=Hamartin
Q92574938991721997Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q92574938991721997Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q92574938991941971HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4Z6Y
Q92574938991941971HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4Z6Y
Q92574938991975991HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4Z6Y
Q92574938991975991HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4Z6Y
Q925749389911651164Natural variantID=VAR_078845;Note=In TSC1. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11829138;Dbxref=PMID:11829138
Q925749389911651164Natural variantID=VAR_078845;Note=In TSC1. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11829138;Dbxref=PMID:11829138
Q92574938991978978Natural variantID=VAR_070661;Note=In TSC1%3B unknown pathological significance%3B no effect on expression%3B no effect on subcellular localization%3B no effect on inhibition of TORC1 signaling. L->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22161988;Dbxref=d
Q92574938991978978Natural variantID=VAR_070661;Note=In TSC1%3B unknown pathological significance%3B no effect on expression%3B no effect on subcellular localization%3B no effect on inhibition of TORC1 signaling. L->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22161988;Dbxref=d


check button 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 featureDescription of feature
Q925747012170120Alternative sequenceID=VSP_042890;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q925747012170120Alternative sequenceID=VSP_042890;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q925747012111164ChainID=PRO_0000065651;Note=Hamartin
Q925747012111164ChainID=PRO_0000065651;Note=Hamartin
Q92574701217272Natural variantID=VAR_054387;Note=In TSC1. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10533069;Dbxref=dbSNP:rs118203354,PMID:10533069
Q92574701217272Natural variantID=VAR_054387;Note=In TSC1. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10533069;Dbxref=dbSNP:rs118203354,PMID:10533069
Q9257470121117117Natural variantID=VAR_070637;Note=In TSC1%3B reduced expression%3B altered subcellular localization%3B reduced interaction with TSC2%3B reduced inhibition of TORC1 signaling. L->P;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18830229,ECO
Q9257470121117117Natural variantID=VAR_070637;Note=In TSC1%3B reduced expression%3B altered subcellular localization%3B reduced interaction with TSC2%3B reduced inhibition of TORC1 signaling. L->P;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18830229,ECO
Q9257444447911164ChainID=PRO_0000065651;Note=Hamartin
Q9257444447911164ChainID=PRO_0000065651;Note=Hamartin
Q925744444791651164Natural variantID=VAR_078845;Note=In TSC1. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11829138;Dbxref=PMID:11829138
Q925744444791651164Natural variantID=VAR_078845;Note=In TSC1. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11829138;Dbxref=PMID:11829138
Q92574444479448448Natural variantID=VAR_070651;Note=Rare polymorphism%3B no effect on expression%3B no effect on subcellular localization%3B no effect on inhibition of TORC1 signaling. P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22161988;Dbxref=dbSNP:rs118203518,PMID:22161
Q92574444479448448Natural variantID=VAR_070651;Note=Rare polymorphism%3B no effect on expression%3B no effect on subcellular localization%3B no effect on inhibition of TORC1 signaling. P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22161988;Dbxref=dbSNP:rs118203518,PMID:22161
Q9257483487511164ChainID=PRO_0000065651;Note=Hamartin
Q9257483487511164ChainID=PRO_0000065651;Note=Hamartin
Q92574834875721997Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q92574834875721997Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q925748348751651164Natural variantID=VAR_078845;Note=In TSC1. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11829138;Dbxref=PMID:11829138
Q925748348751651164Natural variantID=VAR_078845;Note=In TSC1. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11829138;Dbxref=PMID:11829138
Q9257493899111164ChainID=PRO_0000065651;Note=Hamartin
Q9257493899111164ChainID=PRO_0000065651;Note=Hamartin
Q92574938991721997Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q92574938991721997Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q92574938991941971HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4Z6Y
Q92574938991941971HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4Z6Y
Q92574938991975991HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4Z6Y
Q92574938991975991HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4Z6Y
Q925749389911651164Natural variantID=VAR_078845;Note=In TSC1. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11829138;Dbxref=PMID:11829138
Q925749389911651164Natural variantID=VAR_078845;Note=In TSC1. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11829138;Dbxref=PMID:11829138
Q92574938991978978Natural variantID=VAR_070661;Note=In TSC1%3B unknown pathological significance%3B no effect on expression%3B no effect on subcellular localization%3B no effect on inhibition of TORC1 signaling. L->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22161988;Dbxref=d
Q92574938991978978Natural variantID=VAR_070661;Note=In TSC1%3B unknown pathological significance%3B no effect on expression%3B no effect on subcellular localization%3B no effect on inhibition of TORC1 signaling. L->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22161988;Dbxref=d


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SNVs in the skipped exons for TSC1

check button - Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.
lollipop

check button - Differential PSIs between mutated versus non-mutated samples.

check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
LIHCTCGA-DD-A39Y-01exon_skip_507932
135772571135772732135772615135772615Frame_Shift_DelT-p.K977fs
KICHTCGA-KM-8639-01exon_skip_507935
135779038135779204135779084135779093Frame_Shift_DelCGGAGGAGCC-p.667_670del
KICHTCGA-KM-8639-01exon_skip_507935
135779038135779204135779084135779093Frame_Shift_DelCGGAGGAGCC-p.R718fs
COADTCGA-AZ-4615-01exon_skip_507941
135785958135786079135785964135785964Frame_Shift_DelG-p.R419fs
LUSCTCGA-22-5478-01exon_skip_507941
135785958135786079135785964135785964Frame_Shift_DelG-p.P419fs
UCECTCGA-D1-A177-01exon_skip_507941
135785958135786079135785964135785964Frame_Shift_DelG-p.P419fs
LIHCTCGA-FV-A3R2-01exon_skip_507943
135786389135786500135786464135786464Frame_Shift_DelT-p.T356fs
LIHCTCGA-FV-A3R2-01exon_skip_507943
135786389135786500135786464135786464Frame_Shift_DelT-p.T357fs
BLCATCGA-BT-A42C-01exon_skip_507949
exon_skip_507948
135802588135802691135802666135802666Frame_Shift_DelG-p.T44fs
BLCATCGA-G2-A2EO-01exon_skip_507933
135776102135776224135776115135776115Nonsense_MutationGCp.S871*
SKCMTCGA-QB-A6FS-06exon_skip_507933
135776102135776224135776203135776203Nonsense_MutationGAp.Q842*
BLCATCGA-FD-A6TB-01exon_skip_507933
135776102135776224135776220135776220Nonsense_MutationGCp.S836*
BLCATCGA-ZF-A9R3-01exon_skip_507935
135779038135779204135779172135779172Nonsense_MutationGAp.R692*
ESCATCGA-L5-A8NM-01exon_skip_507935
135779038135779204135779172135779172Nonsense_MutationGAp.R692*
ESCATCGA-L5-A8NM-01exon_skip_507935
135779038135779204135779172135779172Nonsense_MutationGAp.R692X
SKCMTCGA-EE-A181-06exon_skip_507944
135796750135796823135796754135796754Nonsense_MutationGAp.R245*
KIRCTCGA-G6-A8L7-01exon_skip_507936
135779798135779841135779843135779843Splice_SiteTC.

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
HT115_LARGE_INTESTINE135772571135772732135772605135772605Missense_MutationCTp.E981K
HUNS1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE135776102135776224135776167135776167Missense_MutationCTp.V854I
HCC2998_LARGE_INTESTINE135779038135779204135779129135779129Missense_MutationCTp.R706H
KON_UPPER_AERODIGESTIVE_TRACT135779038135779204135779160135779160Missense_MutationGAp.L696F
TE12_OESOPHAGUS135779038135779204135779184135779184Missense_MutationTAp.I688F
SNU175_LARGE_INTESTINE135782118135782222135782141135782141Missense_MutationCTp.S472N
EN_ENDOMETRIUM135782118135782222135782198135782198Missense_MutationGAp.S453F
MYM12_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE135785958135786079135785971135785971Missense_MutationGAp.T417I
ECGI10_OESOPHAGUS135785958135786079135785971135785971Missense_MutationGAp.T417I
KINGS1_CENTRAL_NERVOUS_SYSTEM135785958135786079135785971135785971Missense_MutationGAp.T417I
KPNYS_AUTONOMIC_GANGLIA135785958135786079135785971135785971Missense_MutationGAp.T417I
PSN1_PANCREAS135785958135786079135785971135785971Missense_MutationGAp.T417I
GRM_SKIN135785958135786079135785971135785971Missense_MutationGAp.T417I
RKN_SOFT_TISSUE135785958135786079135786007135786007Missense_MutationTCp.D405G
HCC1599_BREAST135785958135786079135786011135786011Missense_MutationCAp.D404Y
PLCPRF5_LIVER135785958135786079135786058135786058Missense_MutationAGp.L388P
IM95_STOMACH135786389135786500135786412135786412Missense_MutationTCp.Y373C
MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE135796750135796823135796762135796762Missense_MutationAGp.L242P
HCC2998_LARGE_INTESTINE135796750135796823135796804135796804Missense_MutationCTp.R228Q
SNU81_LARGE_INTESTINE135796750135796823135796804135796804Missense_MutationCTp.R228Q
NCIH660_PROSTATE135800974135801126135801006135801006Missense_MutationGCp.P111A
SNU719_STOMACH135800974135801126135801071135801071Missense_MutationAGp.I89T
SW48_LARGE_INTESTINE135802588135802691135802659135802659Missense_MutationCTp.D47N
CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE135802588135802691135802602135802602Nonsense_MutationCAp.E66*
GP2D_LARGE_INTESTINE135779038135779204135779204135779204Splice_SiteCTp.G681D
GP5D_LARGE_INTESTINE135779038135779204135779204135779204Splice_SiteCTp.G681D
SNU1040_LARGE_INTESTINE135786389135786500135786500135786500Splice_SiteCAp.A344S

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TSC1

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TSC1


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TSC1


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RelatedDrugs for TSC1

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
GeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for TSC1

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
TSC1C1854465TUBEROUS SCLEROSIS 1 (disorder)6CTD_human;UNIPROT
TSC1C0041341Tuberous Sclerosis3CTD_human;ORPHANET
TSC1C0014544Epilepsy2CTD_human;HPO
TSC1C0004352Autistic Disorder1CTD_human;HPO
TSC1C0006111Brain Diseases1CTD_human
TSC1C0007134Renal Cell Carcinoma1CTD_human;HPO
TSC1C0007137Squamous cell carcinoma1CTD_human
TSC1C0009241Cognition Disorders1CTD_human
TSC1C0026640Mouth Neoplasms1CTD_human
TSC1C0037769West Syndrome1CTD_human
TSC1C0751778Myoclonic Epilepsies, Progressive1CTD_human
TSC1C1846385FOCAL CORTICAL DYSPLASIA OF TAYLOR1CTD_human;ORPHANET
TSC1C2239176Liver carcinoma1CTD_human