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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 PASK

check button Gene summary
Gene informationGene symbol

PASK

Gene ID

23178

Gene namePAS domain containing serine/threonine kinase
SynonymsPASKIN|STK37
Cytomap

2q37.3

Type of geneprotein-coding
DescriptionPAS domain-containing serine/threonine-protein kinaseper-arnt-sim (PAS) domain kinase
Modification date20180523
UniProtAcc

Q96RG2

ContextPubMed: PASK [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
PASK

GO:0006468

protein phosphorylation

16275910

PASK

GO:0045719

negative regulation of glycogen biosynthetic process

16275910

PASK

GO:0046777

protein autophosphorylation

20943661|21418524


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Exon skipping events across known transcript of Ensembl for PASK 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 PASK

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 PASK

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_3479322242047581:242047715:242047881:242048222:242051654:242051840242047881:242048222ENSG00000115687.9ENST00000475666.1
exon_skip_3479392242051654:242051854:242054436:242054592:242054702:242054828242054436:242054592ENSG00000115687.9ENST00000358649.4
exon_skip_3479412242051654:242051854:242054457:242054592:242054702:242054828242054457:242054592ENSG00000115687.9ENST00000405260.1,ENST00000544142.1,ENST00000234040.4,ENST00000539818.1
exon_skip_3479442242054457:242054592:242054702:242054828:242062146:242062314242054702:242054828ENSG00000115687.9ENST00000358649.4,ENST00000405260.1,ENST00000544142.1,ENST00000403638.3,ENST00000493544.1,ENST00000234040.4,ENST00000539818.1
exon_skip_3479462242062146:242062314:242063363:242063548:242065610:242066399242063363:242063548ENSG00000115687.9ENST00000358649.4,ENST00000405260.1,ENST00000544142.1,ENST00000403638.3,ENST00000493544.1,ENST00000234040.4,ENST00000539818.1
exon_skip_3479552242078166:242078209:242079299:242079470:242079935:242080168242079299:242079470ENSG00000115687.9ENST00000358649.4,ENST00000405260.1,ENST00000403638.3,ENST00000234040.4,ENST00000485940.1
exon_skip_3479582242078166:242078209:242082251:242082489:242088828:242088850242082251:242082489ENSG00000115687.9ENST00000437780.1
exon_skip_3479602242079988:242080168:242082251:242082489:242088828:242088850242082251:242082489ENSG00000115687.9ENST00000358649.4,ENST00000403638.3
exon_skip_3479612242082251:242082489:242085164:242085275:242088828:242088850242085164:242085275ENSG00000115687.9ENST00000452907.1

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

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Exon skipping events with PSIs in GTEx for PASK

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_3479322242047581:242047715:242047881:242048222:242051654:242051840242047881:242048222ENSG00000115687.9ENST00000475666.1
exon_skip_3479392242051654:242051854:242054436:242054592:242054702:242054828242054436:242054592ENSG00000115687.9ENST00000358649.4
exon_skip_3479412242051654:242051854:242054457:242054592:242054702:242054828242054457:242054592ENSG00000115687.9ENST00000234040.4,ENST00000544142.1,ENST00000405260.1,ENST00000539818.1
exon_skip_3479442242054457:242054592:242054702:242054828:242062146:242062314242054702:242054828ENSG00000115687.9ENST00000234040.4,ENST00000544142.1,ENST00000405260.1,ENST00000358649.4,ENST00000539818.1,ENST00000403638.3,ENST00000493544.1
exon_skip_3479462242062146:242062314:242063363:242063548:242065610:242066399242063363:242063548ENSG00000115687.9ENST00000234040.4,ENST00000544142.1,ENST00000405260.1,ENST00000358649.4,ENST00000539818.1,ENST00000403638.3,ENST00000493544.1
exon_skip_3479552242078166:242078209:242079299:242079470:242079935:242080168242079299:242079470ENSG00000115687.9ENST00000234040.4,ENST00000405260.1,ENST00000358649.4,ENST00000403638.3,ENST00000485940.1
exon_skip_3479582242078166:242078209:242082251:242082489:242088828:242088850242082251:242082489ENSG00000115687.9ENST00000437780.1
exon_skip_3479602242079988:242080168:242082251:242082489:242088828:242088850242082251:242082489ENSG00000115687.9ENST00000358649.4,ENST00000403638.3
exon_skip_3479612242082251:242082489:242085164:242085275:242088828:242088850242085164:242085275ENSG00000115687.9ENST00000452907.1

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 PASK

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
ENST00000234040242063363242063548Frame-shift
ENST00000405260242063363242063548Frame-shift
ENST00000544142242063363242063548Frame-shift
ENST00000234040242054457242054592In-frame
ENST00000405260242054457242054592In-frame
ENST00000544142242054457242054592In-frame
ENST00000234040242054702242054828In-frame
ENST00000405260242054702242054828In-frame
ENST00000544142242054702242054828In-frame
ENST00000234040242079299242079470In-frame
ENST00000405260242079299242079470In-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
ENST00000234040242063363242063548Frame-shift
ENST00000405260242063363242063548Frame-shift
ENST00000544142242063363242063548Frame-shift
ENST00000234040242054457242054592In-frame
ENST00000405260242054457242054592In-frame
ENST00000544142242054457242054592In-frame
ENST00000234040242054702242054828In-frame
ENST00000405260242054702242054828In-frame
ENST00000544142242054702242054828In-frame
ENST00000234040242079299242079470In-frame
ENST00000405260242079299242079470In-frame

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

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
ENST0000023404045891323242079299242079470563733143200
ENST000004052604959132324207929924207947011291299143200
ENST000005441424017132324205470224205482827102835838880
ENST000005441424017132324205445724205459228362970880925
ENST00000234040458913232420547022420548283206333110241066
ENST00000405260495913232420547022420548283772389710241066
ENST00000234040458913232420544572420545923332346610661111
ENST00000405260495913232420544572420545923898403210661111

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
ENST0000023404045891323242079299242079470563733143200
ENST000004052604959132324207929924207947011291299143200
ENST000005441424017132324205470224205482827102835838880
ENST000005441424017132324205445724205459228362970880925
ENST00000234040458913232420547022420548283206333110241066
ENST00000405260495913232420547022420548283772389710241066
ENST00000234040458913232420544572420545923332346610661111
ENST00000405260495913232420544572420545923898403210661111

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
Q96RG2143200143147Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LL8
Q96RG2143200143147Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LL8
Q96RG2143200188191Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LL8
Q96RG2143200188191Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LL8
Q96RG2143200198203Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LL8
Q96RG2143200198203Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LL8
Q96RG214320011323ChainID=PRO_0000086480;Note=PAS domain-containing serine/threonine-protein kinase
Q96RG214320011323ChainID=PRO_0000086480;Note=PAS domain-containing serine/threonine-protein kinase
Q96RG2143200119190DomainNote=PAS 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00140
Q96RG2143200119190DomainNote=PAS 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00140
Q96RG2143200151155HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LL8
Q96RG2143200151155HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LL8
Q96RG2143200167170HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LL8
Q96RG2143200167170HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LL8
Q96RG2143200177181HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LL8
Q96RG2143200177181HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LL8
Q96RG2143200159161TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LL8
Q96RG2143200159161TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LL8
Q96RG2143200174176TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LL8
Q96RG2143200174176TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LL8
Q96RG283888011323ChainID=PRO_0000086480;Note=PAS domain-containing serine/threonine-protein kinase
Q96RG2838880844844Natural variantID=VAR_040991;Note=P->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs36082918,PMID:17344846
Q96RG2838880850850Sequence conflictNote=T->M;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q96RG288092511323ChainID=PRO_0000086480;Note=PAS domain-containing serine/threonine-protein kinase
Q96RG2880925899899Sequence conflictNote=Y->H;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q96RG21024106610231032Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DLS
Q96RG21024106610231032Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DLS
Q96RG21024106610391043Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DLS
Q96RG21024106610391043Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DLS
Q96RG21024106610471050Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DLS
Q96RG21024106610471050Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DLS
Q96RG21024106610281028Binding siteNote=ATP
Q96RG21024106610281028Binding siteNote=ATP
Q96RG21024106611323ChainID=PRO_0000086480;Note=PAS domain-containing serine/threonine-protein kinase
Q96RG21024106611323ChainID=PRO_0000086480;Note=PAS domain-containing serine/threonine-protein kinase
Q96RG2102410669991251DomainNote=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159
Q96RG2102410669991251DomainNote=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159
Q96RG21024106610511056HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DLS
Q96RG21024106610511056HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DLS
Q96RG21024106610281028MutagenesisNote=Loss of autophosphorylating activity. K->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11459942,ECO:0000269|PubMed:20943661;Dbxref=PMID:11459942,PMID:20943661
Q96RG21024106610281028MutagenesisNote=Loss of autophosphorylating activity. K->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11459942,ECO:0000269|PubMed:20943661;Dbxref=PMID:11459942,PMID:20943661
Q96RG21024106610581058MutagenesisNote=Induces lower protein kinase activity. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20943661;Dbxref=PMID:20943661
Q96RG21024106610581058MutagenesisNote=Induces lower protein kinase activity. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20943661;Dbxref=PMID:20943661
Q96RG21024106610581058MutagenesisNote=Does not affect protein kinase activity. R->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20943661;Dbxref=PMID:20943661
Q96RG21024106610581058MutagenesisNote=Does not affect protein kinase activity. R->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20943661;Dbxref=PMID:20943661
Q96RG21024106610481048Sequence conflictNote=K->E;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q96RG21024106610481048Sequence conflictNote=K->E;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q96RG21024106610621062Sequence conflictNote=A->S;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q96RG21024106610621062Sequence conflictNote=A->S;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q96RG21024106610441046TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DLS
Q96RG21024106610441046TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DLS
Q96RG21066111111111111Alternative sequenceID=VSP_009302;Note=In isoform 2. Q->QVRAGQSR;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8590280;Dbxref=PMID:8590280
Q96RG21066111111111111Alternative sequenceID=VSP_009302;Note=In isoform 2. Q->QVRAGQSR;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8590280;Dbxref=PMID:8590280
Q96RG21066111110671072Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DLS
Q96RG21066111110671072Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DLS
Q96RG21066111110741082Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DLS
Q96RG21066111110741082Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DLS
Q96RG21066111111323ChainID=PRO_0000086480;Note=PAS domain-containing serine/threonine-protein kinase
Q96RG21066111111323ChainID=PRO_0000086480;Note=PAS domain-containing serine/threonine-protein kinase
Q96RG2106611119991251DomainNote=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159
Q96RG2106611119991251DomainNote=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159
Q96RG21066111110901095HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DLS
Q96RG21066111110901095HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DLS
Q96RG21066111111021121HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DLS
Q96RG21066111111021121HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DLS
Q96RG21066111110821089Nucleotide bindingNote=ATP
Q96RG21066111110821089Nucleotide bindingNote=ATP


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
Q96RG2143200143147Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LL8
Q96RG2143200143147Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LL8
Q96RG2143200188191Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LL8
Q96RG2143200188191Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LL8
Q96RG2143200198203Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LL8
Q96RG2143200198203Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LL8
Q96RG214320011323ChainID=PRO_0000086480;Note=PAS domain-containing serine/threonine-protein kinase
Q96RG214320011323ChainID=PRO_0000086480;Note=PAS domain-containing serine/threonine-protein kinase
Q96RG2143200119190DomainNote=PAS 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00140
Q96RG2143200119190DomainNote=PAS 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00140
Q96RG2143200151155HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LL8
Q96RG2143200151155HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LL8
Q96RG2143200167170HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LL8
Q96RG2143200167170HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LL8
Q96RG2143200177181HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LL8
Q96RG2143200177181HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LL8
Q96RG2143200159161TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LL8
Q96RG2143200159161TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LL8
Q96RG2143200174176TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LL8
Q96RG2143200174176TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LL8
Q96RG283888011323ChainID=PRO_0000086480;Note=PAS domain-containing serine/threonine-protein kinase
Q96RG2838880844844Natural variantID=VAR_040991;Note=P->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs36082918,PMID:17344846
Q96RG2838880850850Sequence conflictNote=T->M;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q96RG288092511323ChainID=PRO_0000086480;Note=PAS domain-containing serine/threonine-protein kinase
Q96RG2880925899899Sequence conflictNote=Y->H;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q96RG21024106610231032Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DLS
Q96RG21024106610231032Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DLS
Q96RG21024106610391043Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DLS
Q96RG21024106610391043Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DLS
Q96RG21024106610471050Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DLS
Q96RG21024106610471050Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DLS
Q96RG21024106610281028Binding siteNote=ATP
Q96RG21024106610281028Binding siteNote=ATP
Q96RG21024106611323ChainID=PRO_0000086480;Note=PAS domain-containing serine/threonine-protein kinase
Q96RG21024106611323ChainID=PRO_0000086480;Note=PAS domain-containing serine/threonine-protein kinase
Q96RG2102410669991251DomainNote=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159
Q96RG2102410669991251DomainNote=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159
Q96RG21024106610511056HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DLS
Q96RG21024106610511056HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DLS
Q96RG21024106610281028MutagenesisNote=Loss of autophosphorylating activity. K->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11459942,ECO:0000269|PubMed:20943661;Dbxref=PMID:11459942,PMID:20943661
Q96RG21024106610281028MutagenesisNote=Loss of autophosphorylating activity. K->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11459942,ECO:0000269|PubMed:20943661;Dbxref=PMID:11459942,PMID:20943661
Q96RG21024106610581058MutagenesisNote=Induces lower protein kinase activity. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20943661;Dbxref=PMID:20943661
Q96RG21024106610581058MutagenesisNote=Induces lower protein kinase activity. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20943661;Dbxref=PMID:20943661
Q96RG21024106610581058MutagenesisNote=Does not affect protein kinase activity. R->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20943661;Dbxref=PMID:20943661
Q96RG21024106610581058MutagenesisNote=Does not affect protein kinase activity. R->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20943661;Dbxref=PMID:20943661
Q96RG21024106610481048Sequence conflictNote=K->E;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q96RG21024106610481048Sequence conflictNote=K->E;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q96RG21024106610621062Sequence conflictNote=A->S;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q96RG21024106610621062Sequence conflictNote=A->S;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q96RG21024106610441046TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DLS
Q96RG21024106610441046TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DLS
Q96RG21066111111111111Alternative sequenceID=VSP_009302;Note=In isoform 2. Q->QVRAGQSR;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8590280;Dbxref=PMID:8590280
Q96RG21066111111111111Alternative sequenceID=VSP_009302;Note=In isoform 2. Q->QVRAGQSR;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8590280;Dbxref=PMID:8590280
Q96RG21066111110671072Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DLS
Q96RG21066111110671072Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DLS
Q96RG21066111110741082Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DLS
Q96RG21066111110741082Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DLS
Q96RG21066111111323ChainID=PRO_0000086480;Note=PAS domain-containing serine/threonine-protein kinase
Q96RG21066111111323ChainID=PRO_0000086480;Note=PAS domain-containing serine/threonine-protein kinase
Q96RG2106611119991251DomainNote=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159
Q96RG2106611119991251DomainNote=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159
Q96RG21066111110901095HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DLS
Q96RG21066111110901095HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DLS
Q96RG21066111111021121HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DLS
Q96RG21066111111021121HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DLS
Q96RG21066111110821089Nucleotide bindingNote=ATP
Q96RG21066111110821089Nucleotide bindingNote=ATP


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SNVs in the skipped exons for PASK

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
KIRCTCGA-B8-5162-01242079300242079470242079401242079401Frame_Shift_DelG-p.L167fs
LIHCTCGA-BC-A3KG-01exon_skip_347958
exon_skip_347960
242082252242082489242082337242082337Frame_Shift_DelG-p.P37fs
SARCTCGA-DX-AB2X-01exon_skip_347941
exon_skip_347939
242054437242054592242054559242054559Nonsense_MutationGAp.Q1078*
SARCTCGA-DX-AB2X-01exon_skip_347941
exon_skip_347939
242054458242054592242054559242054559Nonsense_MutationGAp.Q1078*
LUSCTCGA-66-2788-01exon_skip_347944
242054703242054828242054777242054777Nonsense_MutationCAp.E1042*
BLCATCGA-GU-A42R-01exon_skip_347958
exon_skip_347960
242082252242082489242082263242082263Nonsense_MutationGAp.Q11*
STADTCGA-HU-A4GT-01exon_skip_347944
242054703242054828242054701242054701Splice_SiteAGp.K1066_splice

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
LS411N_LARGE_INTESTINE242054458242054592242054497242054497Frame_Shift_DelG-p.P1098fs
LS411N_LARGE_INTESTINE242054437242054592242054497242054497Frame_Shift_DelG-p.P1098fs
NCIH748_LUNG242054458242054592242054460242054460Missense_MutationGTp.Q1111K
NCIH748_LUNG242054437242054592242054460242054460Missense_MutationGTp.Q1111K
HOS_BONE242054458242054592242054477242054477Missense_MutationGAp.A1105V
HOS_BONE242054437242054592242054477242054477Missense_MutationGAp.A1105V
NCIH2227_LUNG242054703242054828242054723242054723Missense_MutationCTp.E1060K
U251MG_CENTRAL_NERVOUS_SYSTEM242054703242054828242054741242054741Missense_MutationCTp.A1054T
FTC238_THYROID242054703242054828242054798242054798Missense_MutationCTp.V1035I
NCIH1838_LUNG242063364242063548242063381242063381Missense_MutationCTp.G963R
HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE242063364242063548242063437242063437Missense_MutationCTp.R944H
EN_ENDOMETRIUM242063364242063548242063437242063437Missense_MutationCTp.R944H
HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE242063364242063548242063443242063443Missense_MutationCTp.R942K
M14_SKIN242063364242063548242063456242063456Missense_MutationCTp.D938N
MDAMB435S_SKIN242063364242063548242063456242063456Missense_MutationCTp.D938N
UACC812_BREAST242063364242063548242063466242063466Missense_MutationGTp.H934Q
CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE242063364242063548242063474242063474Missense_MutationGTp.L932I
CAL12T_LUNG242063364242063548242063487242063487Missense_MutationCAp.W927C
CAL12T_LUNG242063364242063548242063487242063488Missense_MutationCCAGp.W927S
CAL12T_LUNG242063364242063548242063488242063488Missense_MutationCGp.W927S
SW948_LARGE_INTESTINE242079300242079470242079344242079344Missense_MutationGAp.H186Y
MONOMAC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE242079300242079470242079368242079368Missense_MutationCAp.V178L
MONOMAC6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE242079300242079470242079368242079368Missense_MutationCAp.V178L
SNUC2B_LARGE_INTESTINE242082252242082489242082263242082263Missense_MutationGTp.T62K
OC316_OVARY242082252242082489242082365242082365Missense_MutationCTp.G28D
OC314_OVARY242082252242082489242082365242082365Missense_MutationCTp.G28D
CP66MEL_SKIN242082252242082489242082417242082417Missense_MutationCTp.E11K
LS411N_LARGE_INTESTINE242082252242082489242082426242082426Missense_MutationCTp.A8T

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

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value
exon_skip_3479462242062146:242062314:242063363:242063548:242065610:242066399242063363:242063548ENST00000358649.4,ENST00000405260.1,ENST00000544142.1,ENST00000403638.3,ENST00000493544.1,ENST00000234040.4,ENST00000539818.1BRCArs2302052chr2:242063448G/A6.19e-04
exon_skip_3479462242062146:242062314:242063363:242063548:242065610:242066399242063363:242063548ENST00000358649.4,ENST00000405260.1,ENST00000544142.1,ENST00000403638.3,ENST00000493544.1,ENST00000234040.4,ENST00000539818.1BRCArs2302052chr2:242063448G/A6.20e-04
exon_skip_3479582242078166:242078209:242082251:242082489:242088828:242088850242082251:242082489ENST00000437780.1BLCArs6709462chr2:242082262T/C2.00e-03
exon_skip_3479582242078166:242078209:242082251:242082489:242088828:242088850242082251:242082489ENST00000437780.1BLCArs6709462chr2:242082262T/C2.00e-03
exon_skip_3479582242078166:242078209:242082251:242082489:242088828:242088850242082251:242082489ENST00000437780.1PCPGrs6709462chr2:242082262T/C1.64e-04
exon_skip_3479582242078166:242078209:242082251:242082489:242088828:242088850242082251:242082489ENST00000437780.1PCPGrs6709462chr2:242082262T/C1.64e-04
exon_skip_3479582242078166:242078209:242082251:242082489:242088828:242088850242082251:242082489ENST00000437780.1PCPGrs758068chr2:242082480A/C6.71e-04
exon_skip_3479582242078166:242078209:242082251:242082489:242088828:242088850242082251:242082489ENST00000437780.1PCPGrs758068chr2:242082480A/C6.71e-04
exon_skip_3479582242078166:242078209:242082251:242082489:242088828:242088850242082251:242082489ENST00000437780.1PRADrs758068chr2:242082480A/C2.93e-03
exon_skip_3479582242078166:242078209:242082251:242082489:242088828:242088850242082251:242082489ENST00000437780.1PRADrs758068chr2:242082480A/C2.93e-03
exon_skip_3479582242078166:242078209:242082251:242082489:242088828:242088850242082251:242082489ENST00000437780.1THCArs758068chr2:242082480A/C1.65e-04
exon_skip_3479582242078166:242078209:242082251:242082489:242088828:242088850242082251:242082489ENST00000437780.1THCArs758068chr2:242082480A/C1.65e-04
exon_skip_3479582242078166:242078209:242082251:242082489:242088828:242088850242082251:242082489ENST00000437780.1THCArs6709462chr2:242082262T/C2.43e-03
exon_skip_3479582242078166:242078209:242082251:242082489:242088828:242088850242082251:242082489ENST00000437780.1THCArs6709462chr2:242082262T/C2.43e-03
exon_skip_3479602242079988:242080168:242082251:242082489:242088828:242088850242082251:242082489ENST00000358649.4,ENST00000403638.3BLCArs6709462chr2:242082262T/C2.00e-03
exon_skip_3479602242079988:242080168:242082251:242082489:242088828:242088850242082251:242082489ENST00000358649.4,ENST00000403638.3BLCArs6709462chr2:242082262T/C2.00e-03
exon_skip_3479602242079988:242080168:242082251:242082489:242088828:242088850242082251:242082489ENST00000358649.4,ENST00000403638.3PCPGrs6709462chr2:242082262T/C1.64e-04
exon_skip_3479602242079988:242080168:242082251:242082489:242088828:242088850242082251:242082489ENST00000358649.4,ENST00000403638.3PCPGrs6709462chr2:242082262T/C1.64e-04
exon_skip_3479602242079988:242080168:242082251:242082489:242088828:242088850242082251:242082489ENST00000358649.4,ENST00000403638.3PCPGrs758068chr2:242082480A/C6.71e-04
exon_skip_3479602242079988:242080168:242082251:242082489:242088828:242088850242082251:242082489ENST00000358649.4,ENST00000403638.3PCPGrs758068chr2:242082480A/C6.71e-04
exon_skip_3479602242079988:242080168:242082251:242082489:242088828:242088850242082251:242082489ENST00000358649.4,ENST00000403638.3PRADrs758068chr2:242082480A/C2.93e-03
exon_skip_3479602242079988:242080168:242082251:242082489:242088828:242088850242082251:242082489ENST00000358649.4,ENST00000403638.3PRADrs758068chr2:242082480A/C2.93e-03
exon_skip_3479602242079988:242080168:242082251:242082489:242088828:242088850242082251:242082489ENST00000358649.4,ENST00000403638.3THCArs758068chr2:242082480A/C1.65e-04
exon_skip_3479602242079988:242080168:242082251:242082489:242088828:242088850242082251:242082489ENST00000358649.4,ENST00000403638.3THCArs758068chr2:242082480A/C1.65e-04
exon_skip_3479602242079988:242080168:242082251:242082489:242088828:242088850242082251:242082489ENST00000358649.4,ENST00000403638.3THCArs6709462chr2:242082262T/C2.43e-03
exon_skip_3479602242079988:242080168:242082251:242082489:242088828:242088850242082251:242082489ENST00000358649.4,ENST00000403638.3THCArs6709462chr2:242082262T/C2.43e-03

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


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


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RelatedDrugs for PASK

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 PASK

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
PASKC0004352Autistic Disorder1CTD_human
PASKC2931817Chromosome 2q37 deletion syndrome1CTD_human