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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 TYK2

check button Gene summary
Gene informationGene symbol

TYK2

Gene ID

7297

Gene nametyrosine kinase 2
SynonymsIMD35|JTK1
Cytomap

19p13.2

Type of geneprotein-coding
Descriptionnon-receptor tyrosine-protein kinase TYK2
Modification date20180522
UniProtAcc

P29597

ContextPubMed: TYK2 [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

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Exon skipping events across known transcript of Ensembl for TYK2 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 TYK2

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 TYK2

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_3147811910461622:10461644:10461727:10461838:10463109:1046316810461727:10461838ENSG00000105397.9ENST00000525621.1,ENST00000527481.2,ENST00000264818.6,ENST00000524462.1
exon_skip_3148221910461727:10461838:10463109:10463227:10463601:1046375010463109:10463227ENSG00000105397.9ENST00000525621.1,ENST00000527481.2,ENST00000264818.6,ENST00000524462.1
exon_skip_3148641910463109:10463227:10463601:10463774:10464203:1046432210463601:10463774ENSG00000105397.9ENST00000529739.1,ENST00000525621.1,ENST00000592137.1,ENST00000264818.6,ENST00000524462.1
exon_skip_3148661910463109:10463227:10463601:10463774:10464717:1046477910463601:10463774ENSG00000105397.9ENST00000527481.2
exon_skip_3148811910463643:10463774:10464203:10464322:10464717:1046477910464203:10464322ENSG00000105397.9ENST00000525621.1,ENST00000592137.1,ENST00000264818.6,ENST00000524462.1
exon_skip_3148901910468678:10468814:10469850:10469978:10471637:1047174910469850:10469978ENSG00000105397.9ENST00000533334.1
exon_skip_3148911910468678:10468814:10469850:10469978:10472186:1047227410469850:10469978ENSG00000105397.9ENST00000525621.1,ENST00000264818.6,ENST00000524462.1,ENST00000529370.1
exon_skip_3148931910469850:10469978:10471637:10471749:10472186:1047227410471637:10471749ENSG00000105397.9ENST00000533334.1
exon_skip_3148961910472753:10472857:10472939:10473132:10473224:1047333310472939:10473132ENSG00000105397.9ENST00000525621.1,ENST00000264818.6,ENST00000524462.1,ENST00000529370.1
exon_skip_3148991910473255:10473333:10475289:10475447:10475526:1047572410475289:10475447ENSG00000105397.9ENST00000525621.1,ENST00000264818.6,ENST00000524462.1,ENST00000529370.1
exon_skip_3149001910473255:10473333:10475289:10475447:10476192:1047648410475289:10475447ENSG00000105397.9ENST00000525220.1
exon_skip_3149051910475289:10475447:10475526:10475724:10476192:1047648410475526:10475724ENSG00000105397.9ENST00000525621.1,ENST00000264818.6,ENST00000524462.1,ENST00000529370.1
exon_skip_3149081910478839:10478878:10478970:10479094:10488889:1048908210478970:10479094ENSG00000105397.9ENST00000531836.1,ENST00000525621.1,ENST00000264818.6,ENST00000529370.1
exon_skip_3149151910479004:10479094:10480432:10480553:10488889:1048908210480432:10480553ENSG00000105397.9ENST00000530829.1
exon_skip_3149161910479004:10479094:10488889:10489102:10490290:1049036510488889:10489102ENSG00000105397.9ENST00000531836.1,ENST00000525621.1,ENST00000529370.1
exon_skip_3149181910488889:10489102:10490290:10490365:10491055:1049118610490290:10490365ENSG00000105397.9ENST00000531836.1
exon_skip_3149191910488889:10489102:10490290:10490455:10491055:1049118610490290:10490455ENSG00000105397.9ENST00000530829.1,ENST00000525621.1,ENST00000529370.1

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

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Exon skipping events with PSIs in GTEx for TYK2

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_3147811910461622:10461644:10461727:10461838:10463109:1046316810461727:10461838ENSG00000105397.9ENST00000524462.1,ENST00000525621.1,ENST00000264818.6,ENST00000527481.2
exon_skip_3148221910461727:10461838:10463109:10463227:10463601:1046375010463109:10463227ENSG00000105397.9ENST00000524462.1,ENST00000525621.1,ENST00000264818.6,ENST00000527481.2
exon_skip_3148641910463109:10463227:10463601:10463774:10464203:1046432210463601:10463774ENSG00000105397.9ENST00000524462.1,ENST00000525621.1,ENST00000264818.6,ENST00000592137.1,ENST00000529739.1
exon_skip_3148661910463109:10463227:10463601:10463774:10464717:1046477910463601:10463774ENSG00000105397.9ENST00000527481.2
exon_skip_3148811910463643:10463774:10464203:10464322:10464717:1046477910464203:10464322ENSG00000105397.9ENST00000524462.1,ENST00000525621.1,ENST00000264818.6,ENST00000592137.1
exon_skip_3148901910468678:10468814:10469850:10469978:10471637:1047174910469850:10469978ENSG00000105397.9ENST00000533334.1
exon_skip_3148911910468678:10468814:10469850:10469978:10472186:1047227410469850:10469978ENSG00000105397.9ENST00000524462.1,ENST00000525621.1,ENST00000264818.6,ENST00000529370.1
exon_skip_3148931910469850:10469978:10471637:10471749:10472186:1047227410471637:10471749ENSG00000105397.9ENST00000533334.1
exon_skip_3148961910472753:10472857:10472939:10473132:10473224:1047333310472939:10473132ENSG00000105397.9ENST00000524462.1,ENST00000525621.1,ENST00000264818.6,ENST00000529370.1
exon_skip_3148991910473255:10473333:10475289:10475447:10475526:1047572410475289:10475447ENSG00000105397.9ENST00000524462.1,ENST00000525621.1,ENST00000264818.6,ENST00000529370.1
exon_skip_3149001910473255:10473333:10475289:10475447:10476192:1047648410475289:10475447ENSG00000105397.9ENST00000525220.1
exon_skip_3149051910475289:10475447:10475526:10475724:10476192:1047648410475526:10475724ENSG00000105397.9ENST00000524462.1,ENST00000525621.1,ENST00000264818.6,ENST00000529370.1
exon_skip_3149081910478839:10478878:10478970:10479094:10488889:1048908210478970:10479094ENSG00000105397.9ENST00000525621.1,ENST00000264818.6,ENST00000529370.1,ENST00000531836.1
exon_skip_3149151910479004:10479094:10480432:10480553:10488889:1048908210480432:10480553ENSG00000105397.9ENST00000530829.1
exon_skip_3149161910479004:10479094:10488889:10489102:10490290:1049036510488889:10489102ENSG00000105397.9ENST00000525621.1,ENST00000529370.1,ENST00000531836.1
exon_skip_3149181910488889:10489102:10490290:10490365:10491055:1049118610490290:10490365ENSG00000105397.9ENST00000531836.1
exon_skip_3149191910488889:10489102:10490290:10490455:10491055:1049118610490290:10490455ENSG00000105397.9ENST00000525621.1,ENST00000529370.1,ENST00000530829.1

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 TYK2

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
ENST0000052562110488889104891023UTR-3CDS
ENST0000052562110490290104904553UTR-3UTR
ENST000002648181046310910463227Frame-shift
ENST000005256211046310910463227Frame-shift
ENST000002648181046360110463774Frame-shift
ENST000005256211046360110463774Frame-shift
ENST000002648181046420310464322Frame-shift
ENST000005256211046420310464322Frame-shift
ENST000002648181046985010469978Frame-shift
ENST000005256211046985010469978Frame-shift
ENST000002648181047293910473132Frame-shift
ENST000005256211047293910473132Frame-shift
ENST000002648181047528910475447Frame-shift
ENST000005256211047528910475447Frame-shift
ENST000002648181047897010479094Frame-shift
ENST000005256211047897010479094Frame-shift
ENST000002648181046172710461838In-frame
ENST000005256211046172710461838In-frame
ENST000002648181047552610475724In-frame
ENST000005256211047552610475724In-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
ENST0000052562110488889104891023UTR-3CDS
ENST0000052562110490290104904553UTR-3UTR
ENST000002648181046310910463227Frame-shift
ENST000005256211046310910463227Frame-shift
ENST000002648181046360110463774Frame-shift
ENST000005256211046360110463774Frame-shift
ENST000002648181046420310464322Frame-shift
ENST000005256211046420310464322Frame-shift
ENST000002648181046985010469978Frame-shift
ENST000005256211046985010469978Frame-shift
ENST000002648181047293910473132Frame-shift
ENST000005256211047293910473132Frame-shift
ENST000002648181047528910475447Frame-shift
ENST000005256211047528910475447Frame-shift
ENST000002648181047897010479094Frame-shift
ENST000005256211047897010479094Frame-shift
ENST000002648181046172710461838In-frame
ENST000005256211046172710461838In-frame
ENST000002648181047552610475724In-frame
ENST000005256211047552610475724In-frame

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Infer the effects of exon skipping event on protein functional features for TYK2

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
ENST0000026481838821187104755261047572410121209337403
ENST0000052562143641187104755261047572414941691337403
ENST000002648183882118710461727104618383319342911061143
ENST000005256214364118710461727104618383801391111061143

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
ENST0000026481838821187104755261047572410121209337403
ENST0000052562143641187104755261047572414941691337403
ENST000002648183882118710461727104618383319342911061143
ENST000005256214364118710461727104618383801391111061143

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
P29597337403375378Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PO6
P29597337403375378Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PO6
P29597337403383389Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PO6
P29597337403383389Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PO6
P29597337403392397Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PO6
P29597337403392397Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PO6
P29597337403400406Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PO6
P29597337403400406Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PO6
P2959733740311187ChainID=PRO_0000088177;Note=Non-receptor tyrosine-protein kinase TYK2
P2959733740311187ChainID=PRO_0000088177;Note=Non-receptor tyrosine-protein kinase TYK2
P2959733740326431DomainNote=FERM;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00084
P2959733740326431DomainNote=FERM;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00084
P29597337403380382HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PO6
P29597337403380382HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PO6
P29597337403362362Natural variantID=VAR_020599;Note=V->F;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17344846,ECO:0000269|PubMed:2216457,ECO:0000269|Ref.2;Dbxref=dbSNP:rs2304256,PMID:17344846,PMID:2216457
P29597337403362362Natural variantID=VAR_020599;Note=V->F;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17344846,ECO:0000269|PubMed:2216457,ECO:0000269|Ref.2;Dbxref=dbSNP:rs2304256,PMID:17344846,PMID:2216457
P29597337403363363Natural variantID=VAR_020600;Note=G->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17344846,ECO:0000269|Ref.2;Dbxref=dbSNP:rs2304255,PMID:17344846
P29597337403363363Natural variantID=VAR_020600;Note=G->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17344846,ECO:0000269|Ref.2;Dbxref=dbSNP:rs2304255,PMID:17344846
P29597337403386386Natural variantID=VAR_041870;Note=V->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs55956017,PMID:17344846
P29597337403386386Natural variantID=VAR_041870;Note=V->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs55956017,PMID:17344846
P295971106114311187ChainID=PRO_0000088177;Note=Non-receptor tyrosine-protein kinase TYK2
P295971106114311187ChainID=PRO_0000088177;Note=Non-receptor tyrosine-protein kinase TYK2
P29597110611438971176DomainNote=Protein kinase 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159
P29597110611438971176DomainNote=Protein kinase 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159
P295971106114311041112HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LXP
P295971106114311041112HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LXP
P295971106114311171129HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LXP
P295971106114311171129HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LXP
P295971106114311421151HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LXP
P295971106114311421151HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LXP


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
P29597337403375378Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PO6
P29597337403375378Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PO6
P29597337403383389Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PO6
P29597337403383389Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PO6
P29597337403392397Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PO6
P29597337403392397Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PO6
P29597337403400406Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PO6
P29597337403400406Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PO6
P2959733740311187ChainID=PRO_0000088177;Note=Non-receptor tyrosine-protein kinase TYK2
P2959733740311187ChainID=PRO_0000088177;Note=Non-receptor tyrosine-protein kinase TYK2
P2959733740326431DomainNote=FERM;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00084
P2959733740326431DomainNote=FERM;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00084
P29597337403380382HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PO6
P29597337403380382HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PO6
P29597337403362362Natural variantID=VAR_020599;Note=V->F;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17344846,ECO:0000269|PubMed:2216457,ECO:0000269|Ref.2;Dbxref=dbSNP:rs2304256,PMID:17344846,PMID:2216457
P29597337403362362Natural variantID=VAR_020599;Note=V->F;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17344846,ECO:0000269|PubMed:2216457,ECO:0000269|Ref.2;Dbxref=dbSNP:rs2304256,PMID:17344846,PMID:2216457
P29597337403363363Natural variantID=VAR_020600;Note=G->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17344846,ECO:0000269|Ref.2;Dbxref=dbSNP:rs2304255,PMID:17344846
P29597337403363363Natural variantID=VAR_020600;Note=G->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17344846,ECO:0000269|Ref.2;Dbxref=dbSNP:rs2304255,PMID:17344846
P29597337403386386Natural variantID=VAR_041870;Note=V->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs55956017,PMID:17344846
P29597337403386386Natural variantID=VAR_041870;Note=V->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs55956017,PMID:17344846
P295971106114311187ChainID=PRO_0000088177;Note=Non-receptor tyrosine-protein kinase TYK2
P295971106114311187ChainID=PRO_0000088177;Note=Non-receptor tyrosine-protein kinase TYK2
P29597110611438971176DomainNote=Protein kinase 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159
P29597110611438971176DomainNote=Protein kinase 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159
P295971106114311041112HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LXP
P295971106114311041112HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LXP
P295971106114311171129HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LXP
P295971106114311171129HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LXP
P295971106114311421151HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LXP
P295971106114311421151HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3LXP


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SNVs in the skipped exons for TYK2

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.
TYK2_BRCA_exon_skip_314822_psi_boxplot.png
boxplot
TYK2_KIRC_exon_skip_314822_psi_boxplot.png
boxplot
TYK2_LIHC_exon_skip_314822_psi_boxplot.png
boxplot
TYK2_LUAD_exon_skip_314908_psi_boxplot.png
boxplot
TYK2_SKCM_exon_skip_314822_psi_boxplot.png
boxplot
TYK2_STAD_exon_skip_314822_psi_boxplot.png
boxplot

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-A1EG-01exon_skip_314781
10461728104618381046176310461763Frame_Shift_DelC-p.E1132fs
LIHCTCGA-DD-A39Y-01exon_skip_314822
10463110104632271046311310463113Frame_Shift_DelG-p.P1105fs
SKCMTCGA-D3-A1QA-06exon_skip_314822
10463110104632271046311310463113Frame_Shift_DelG-p.P1105fs
SKCMTCGA-D3-A1QA-06exon_skip_314822
10463110104632271046311310463113Frame_Shift_DelG-p.T1106fs
STADTCGA-BR-7707-01exon_skip_314822
10463110104632271046311310463113Frame_Shift_DelG-p.T1106fs
LIHCTCGA-G3-A3CJ-01exon_skip_314881
10464204104643221046425710464257Frame_Shift_DelG-p.R992fs
LIHCTCGA-DD-A39Y-01exon_skip_314881
10464204104643221046428410464284Frame_Shift_DelG-p.L983fs
SKCMTCGA-EB-A6QY-01exon_skip_314896
10472940104731321047303110473031Frame_Shift_DelA-p.V526fs
LIHCTCGA-G3-A3CJ-01exon_skip_314896
10472940104731321047307210473072Frame_Shift_DelC-p.A513fs
LIHCTCGA-DD-A3A0-01exon_skip_314896
10472940104731321047309110473091Frame_Shift_DelG-p.P506fs
BLCATCGA-XF-A9SY-01exon_skip_314905
10475527104757241047555910475559Frame_Shift_DelC-p.V393fs
ACCTCGA-OR-A5LJ-01exon_skip_314908
10478971104790941047902810479028Frame_Shift_DelG-p.P87fs
LGGTCGA-E1-5319-01exon_skip_314908
10478971104790941047906610479067Frame_Shift_DelAA-p.74_75del
LGGTCGA-E1-5319-01exon_skip_314908
10478971104790941047906610479067Frame_Shift_DelAA-p.F74fs
BRCATCGA-E9-A1NC-01exon_skip_314822
10463110104632271046311210463113Frame_Shift_Ins-Gp.T1105fs
KIRCTCGA-A3-3382-01exon_skip_314822
10463110104632271046311210463113Frame_Shift_Ins-Gp.E1106fs
KIRCTCGA-AK-3440-01exon_skip_314822
10463110104632271046311210463113Frame_Shift_Ins-Gp.E1106fs
KIRPTCGA-A4-8516-01exon_skip_314881
10464204104643221046428410464285Frame_Shift_Ins-Tp.G983fs
BRCATCGA-E2-A1L8-01exon_skip_314905
10475527104757241047570010475701Frame_Shift_Ins-Cp.N345fs
HNSCTCGA-CV-A45W-01exon_skip_314916
10488890104891021048892010488920Nonsense_MutationCAp.E55*
CESCTCGA-JW-A5VL-01exon_skip_314781
10461728104618381046183910461839Splice_SiteCTe22-1
LUADTCGA-75-5147-01exon_skip_314908
10478971104790941047897010478970Splice_SiteCAp.R106_splice

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
TYK2_10478839_10478878_10478970_10479094_10488889_10489082_TCGA-75-5147-01Sample: TCGA-75-5147-01
Cancer type: LUAD
ESID: exon_skip_314908
Skipped exon start: 10478971
Skipped exon end: 10479094
Mutation start: 10478970
Mutation end: 10478970
Mutation type: Splice_Site
Reference seq: C
Mutation seq: A
AAchange: p.R106_splice
exon_skip_314908_LUAD_TCGA-75-5147-01.png
boxplot
TYK2_10461727_10461838_10463109_10463227_10463601_10463750_TCGA-A3-3382-01Sample: TCGA-A3-3382-01
Cancer type: KIRC
ESID: exon_skip_314822
Skipped exon start: 10463110
Skipped exon end: 10463227
Mutation start: 10463112
Mutation end: 10463113
Mutation type: Frame_Shift_Ins
Reference seq: -
Mutation seq: G
AAchange: p.E1106fs
exon_skip_10881_KIRC_TCGA-A3-3382-01.png
boxplot
exon_skip_10918_KIRC_TCGA-A3-3382-01.png
boxplot
exon_skip_314822_KIRC_TCGA-A3-3382-01.png
boxplot
exon_skip_348822_KIRC_TCGA-A3-3382-01.png
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exon_skip_420494_KIRC_TCGA-A3-3382-01.png
boxplot
exon_skip_425876_KIRC_TCGA-A3-3382-01.png
boxplot
TYK2_10461727_10461838_10463109_10463227_10463601_10463750_TCGA-AK-3440-01Sample: TCGA-AK-3440-01
Cancer type: KIRC
ESID: exon_skip_314822
Skipped exon start: 10463110
Skipped exon end: 10463227
Mutation start: 10463112
Mutation end: 10463113
Mutation type: Frame_Shift_Ins
Reference seq: -
Mutation seq: G
AAchange: p.E1106fs
exon_skip_314822_KIRC_TCGA-AK-3440-01.png
boxplot
exon_skip_374468_KIRC_TCGA-AK-3440-01.png
boxplot
exon_skip_374469_KIRC_TCGA-AK-3440-01.png
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exon_skip_385593_KIRC_TCGA-AK-3440-01.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
DOV13_OVARY10463110104632271046311310463113Frame_Shift_DelG-p.P1105fs
CL34_LARGE_INTESTINE10463110104632271046311310463113Frame_Shift_DelG-p.P1105fs
HEC59_ENDOMETRIUM10463110104632271046311310463113Frame_Shift_DelG-p.P1105fs
HEC59_ENDOMETRIUM10463110104632271046311310463114Frame_Shift_Ins-Gp.P1105fs
GP2D_LARGE_INTESTINE10463110104632271046313810463138Missense_MutationTCp.H1097R
GP5D_LARGE_INTESTINE10463110104632271046313810463138Missense_MutationTCp.H1097R
HS936T_SKIN10463110104632271046315110463151Missense_MutationCTp.E1093K
451LU_SKIN10463602104637741046361110463611Missense_MutationGAp.P1064L
MFE319_ENDOMETRIUM10463602104637741046364210463642Missense_MutationAGp.Y1054H
SW1088_CENTRAL_NERVOUS_SYSTEM10463602104637741046369310463693Missense_MutationCTp.V1037I
CCRFCEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE10463602104637741046372210463722Missense_MutationCTp.R1027H
HEC108_ENDOMETRIUM10463602104637741046375510463755Missense_MutationGAp.A1016V
SNU1040_LARGE_INTESTINE10469851104699781046986510469865Missense_MutationCTp.A721T
SNU1040_LARGE_INTESTINE10469851104699781046988310469883Missense_MutationCTp.A715T
NCIH1155_LUNG10472940104731321047302910473029Missense_MutationCTp.R527Q
KMBC2_URINARY_TRACT10472940104731321047306610473066Missense_MutationCTp.V515M
TE8_OESOPHAGUS10472940104731321047309610473096Missense_MutationATp.F505I
M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE10472940104731321047310110473101Missense_MutationCTp.R503Q
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE10472940104731321047312910473129Missense_MutationGAp.P494S
SKOV3_OVARY10475290104754471047534810475348Missense_MutationCGp.E437Q
CS1_BONE10475290104754471047534810475348Missense_MutationCTp.E437K
LN319_CENTRAL_NERVOUS_SYSTEM10475290104754471047536410475364Missense_MutationGCp.S431R
HCT15_LARGE_INTESTINE10475290104754471047539310475393Missense_MutationCTp.G422S
HRT18_LARGE_INTESTINE10475290104754471047539310475393Missense_MutationCTp.G422S
D542MG_CENTRAL_NERVOUS_SYSTEM10475290104754471047543110475431Missense_MutationGAp.S409F
DV90_LUNG10475527104757241047560610475606Missense_MutationATp.F377Y
CCK81_LARGE_INTESTINE10475527104757241047561010475610Missense_MutationAGp.Y376H
COV644_OVARY10475527104757241047563010475630Missense_MutationGAp.P369L
A498_KIDNEY10475527104757241047569310475693Missense_MutationTGp.Q348P
HSC2_UPPER_AERODIGESTIVE_TRACT10475527104757241047569310475693Missense_MutationTGp.Q348P
MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE10475527104757241047569310475693Missense_MutationTGp.Q348P
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE10478971104790941047897710478977Missense_MutationCTp.R104H
BC3C_URINARY_TRACT10478971104790941047904810479048Missense_MutationCAp.Q80H
COV318_OVARY10478971104790941047908610479086Missense_MutationGTp.P68T
NCIH2286_LUNG10488890104891021048896410488965Missense_MutationCCAAp.G40L
NCIH2286_LUNG10488890104891021048896410488964Missense_MutationCAp.G40V
NCIH2286_LUNG10488890104891021048896510488965Missense_MutationCAp.G40W
SNU1040_LARGE_INTESTINE10488890104891021048898310488983Missense_MutationATp.W34R
SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE10488890104891021048907210489072Missense_MutationCTp.R4H
SNU1040_LARGE_INTESTINE10463602104637741046375310463753Nonsense_MutationGAp.Q1017*
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE10472940104731321047310210473102Nonsense_MutationGAp.R503*
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE10475527104757241047556810475568Nonsense_MutationCAp.E390*
MDAMB436_BREAST10463602104637741046375810463781Splice_SiteTGCAGATAGGCCATGCCCTGGGGA-p.SPGHGL1010del

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TYK2

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value
exon_skip_3149051910475289:10475447:10475526:10475724:10476192:1047648410475526:10475724ENST00000525621.1,ENST00000264818.6,ENST00000524462.1,ENST00000529370.1KIRCrs2304256chr19:10475652G/T1.59e-04
exon_skip_3149051910475289:10475447:10475526:10475724:10476192:1047648410475526:10475724ENST00000525621.1,ENST00000264818.6,ENST00000524462.1,ENST00000529370.1KIRCrs2304256chr19:10475652G/T1.59e-04
exon_skip_3149051910475289:10475447:10475526:10475724:10476192:1047648410475526:10475724ENST00000525621.1,ENST00000264818.6,ENST00000524462.1,ENST00000529370.1SARCrs2304256chr19:10475652G/T6.29e-04
exon_skip_3149051910475289:10475447:10475526:10475724:10476192:1047648410475526:10475724ENST00000525621.1,ENST00000264818.6,ENST00000524462.1,ENST00000529370.1SARCrs2304256chr19:10475652G/T6.29e-04
exon_skip_3149051910475289:10475447:10475526:10475724:10476192:1047648410475526:10475724ENST00000525621.1,ENST00000264818.6,ENST00000524462.1,ENST00000529370.1THCArs2304256chr19:10475652G/T1.76e-04
exon_skip_3149051910475289:10475447:10475526:10475724:10476192:1047648410475526:10475724ENST00000525621.1,ENST00000264818.6,ENST00000524462.1,ENST00000529370.1THCArs2304256chr19:10475652G/T1.78e-04

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TYK2


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TYK2


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RelatedDrugs for TYK2

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
GeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
P29597DB08895TofacitinibNon-receptor tyrosine-protein kinase TYK2small moleculeapproved|investigational
P29597DB12010FostamatinibNon-receptor tyrosine-protein kinase TYK2small moleculeapproved|investigational

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RelatedDiseases for TYK2

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
TYK2C0003873Rheumatoid Arthritis1CTD_human
TYK2C0010346Crohn Disease1CTD_human
TYK2C0023892Biliary cirrhosis1CTD_human
TYK2C0026769Multiple Sclerosis1CTD_human
TYK2C0033860Psoriasis1CTD_human
TYK2C0041696Unipolar Depression1PSYGENET
TYK2C0236736Cocaine-Related Disorders1CTD_human
TYK2C0344315Depressed mood1PSYGENET
TYK2C1269683Major Depressive Disorder1PSYGENET
TYK2C1456784Paranoia1CTD_human