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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 PAK4

check button Gene summary
Gene informationGene symbol

PAK4

Gene ID

10298

Gene namep21 (RAC1) activated kinase 4
Synonyms-
Cytomap

19q13.2

Type of geneprotein-coding
Descriptionserine/threonine-protein kinase PAK 4p21 protein (Cdc42/Rac)-activated kinase 4p21(CDKN1A)-activated kinase 4protein kinase related to S. cerevisiae STE20, effector for Cdc42Hs
Modification date20180523
UniProtAcc

O96013

ContextPubMed: PAK4 [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 PAK4 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 PAK4

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 PAK4

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_3067901939616473:39616559:39658631:39658725:39658869:3965894239658631:39658725ENSG00000130669.13ENST00000593480.1
exon_skip_3067911939616473:39616559:39658869:39658942:39660171:3966039739658869:39658942ENSG00000130669.13ENST00000599386.1
exon_skip_3067921939616473:39616559:39658869:39658952:39660171:3966039739658869:39658952ENSG00000130669.13ENST00000321944.4
exon_skip_3067961939647341:39647490:39658869:39658952:39660171:3966039739658869:39658952ENSG00000130669.13ENST00000599657.1
exon_skip_3068011939658869:39658952:39659264:39659480:39660171:3966039739659264:39659480ENSG00000130669.13ENST00000593690.1
exon_skip_3068021939660171:39660397:39663557:39663746:39664215:3966429139663557:39663746ENSG00000130669.13ENST00000321944.4
exon_skip_3068041939660171:39660397:39663557:39664016:39664215:3966429139663557:39664016ENSG00000130669.13ENST00000358301.3,ENST00000435673.2,ENST00000593690.1,ENST00000360442.3
exon_skip_3068061939664215:39664650:39665570:39665704:39665951:3966607839665570:39665704ENSG00000130669.13ENST00000358301.3,ENST00000599470.1,ENST00000599386.1,ENST00000321944.4,ENST00000435673.2,ENST00000593690.1,ENST00000360442.3

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

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Exon skipping events with PSIs in GTEx for PAK4

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_3067901939616473:39616559:39658631:39658725:39658869:3965894239658631:39658725ENSG00000130669.13ENST00000593480.1
exon_skip_3067911939616473:39616559:39658869:39658942:39660171:3966039739658869:39658942ENSG00000130669.13ENST00000599386.1
exon_skip_3067921939616473:39616559:39658869:39658952:39660171:3966039739658869:39658952ENSG00000130669.13ENST00000321944.4
exon_skip_3067961939647341:39647490:39658869:39658952:39660171:3966039739658869:39658952ENSG00000130669.13ENST00000599657.1
exon_skip_3068011939658869:39658952:39659264:39659480:39660171:3966039739659264:39659480ENSG00000130669.13ENST00000593690.1
exon_skip_3068021939660171:39660397:39663557:39663746:39664215:3966429139663557:39663746ENSG00000130669.13ENST00000321944.4
exon_skip_3068041939660171:39660397:39663557:39664016:39664215:3966429139663557:39664016ENSG00000130669.13ENST00000358301.3,ENST00000593690.1,ENST00000435673.2,ENST00000360442.3
exon_skip_3068061939664215:39664650:39665570:39665704:39665951:3966607839665570:39665704ENSG00000130669.13ENST00000599470.1,ENST00000321944.4,ENST00000358301.3,ENST00000593690.1,ENST00000599386.1,ENST00000435673.2,ENST00000360442.3

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 PAK4

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
ENST0000059369039659264396594805UTR-5UTR
ENST000003583013966557039665704Frame-shift
ENST000003604423966557039665704Frame-shift
ENST000005936903966557039665704Frame-shift
ENST000003583013966355739664016In-frame
ENST000003604423966355739664016In-frame
ENST000005936903966355739664016In-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
ENST0000059369039659264396594805UTR-5UTR
ENST000003583013966557039665704Frame-shift
ENST000003604423966557039665704Frame-shift
ENST000005936903966557039665704Frame-shift
ENST000003583013966355739664016In-frame
ENST000003604423966355739664016In-frame
ENST000005936903966355739664016In-frame

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Infer the effects of exon skipping event on protein functional features for PAK4

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
ENST000003583012756591396635573966401634580368221
ENST000003604422872591396635573966401645791568221
ENST0000059369030425913966355739664016632109068221

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
ENST000003583012756591396635573966401634580368221
ENST000003604422872591396635573966401645791568221
ENST0000059369030425913966355739664016632109068221

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
O960136822169221Alternative sequenceID=VSP_017572;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10574461,ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:17974005;Dbxref=PMID:10574461,PMID:14702039,PMID:17974005
O960136822169221Alternative sequenceID=VSP_017572;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10574461,ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:17974005;Dbxref=PMID:10574461,PMID:14702039,PMID:17974005
O960136822169221Alternative sequenceID=VSP_017572;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10574461,ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:17974005;Dbxref=PMID:10574461,PMID:14702039,PMID:17974005
O9601368221120120Alternative sequenceID=VSP_004892;Note=In isoform 2. E->K;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
O9601368221120120Alternative sequenceID=VSP_004892;Note=In isoform 2. E->K;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
O9601368221120120Alternative sequenceID=VSP_004892;Note=In isoform 2. E->K;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
O9601368221121285Alternative sequenceID=VSP_004893;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
O9601368221121285Alternative sequenceID=VSP_004893;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
O9601368221121285Alternative sequenceID=VSP_004893;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
O9601368221132221Alternative sequenceID=VSP_017573;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
O9601368221132221Alternative sequenceID=VSP_017573;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
O9601368221132221Alternative sequenceID=VSP_017573;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
O96013682211591ChainID=PRO_0000086474;Note=Serine/threonine-protein kinase PAK 4
O96013682211591ChainID=PRO_0000086474;Note=Serine/threonine-protein kinase PAK 4
O96013682211591ChainID=PRO_0000086474;Note=Serine/threonine-protein kinase PAK 4
O9601368221105108Compositional biasNote=Poly-Pro
O9601368221105108Compositional biasNote=Poly-Pro
O9601368221105108Compositional biasNote=Poly-Pro
O96013682217878Modified residueNote=N6-methyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24129315;Dbxref=PMID:24129315
O96013682217878Modified residueNote=N6-methyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24129315;Dbxref=PMID:24129315
O96013682217878Modified residueNote=N6-methyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24129315;Dbxref=PMID:24129315
O9601368221104104Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:19369195;Dbxref=PMID:18691976,PMID:19369195
O9601368221104104Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:19369195;Dbxref=PMID:18691976,PMID:19369195
O9601368221104104Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:19369195;Dbxref=PMID:18691976,PMID:19369195
O9601368221148148Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:19369195;Dbxref=PMID:18691976,PMID:19369195
O9601368221148148Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:19369195;Dbxref=PMID:18691976,PMID:19369195
O9601368221148148Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:19369195;Dbxref=PMID:18691976,PMID:19369195
O9601368221167167Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:19369195;Dbxref=PMID:18691976,PMID:19369195
O9601368221167167Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:19369195;Dbxref=PMID:18691976,PMID:19369195
O9601368221167167Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:19369195;Dbxref=PMID:18691976,PMID:19369195
O9601368221181181Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:19369195,ECO:0000244|PubMed:19690332,ECO:0000244|PubMe
O9601368221181181Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:19369195,ECO:0000244|PubMed:19690332,ECO:0000244|PubMe
O9601368221181181Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:19369195,ECO:0000244|PubMed:19690332,ECO:0000244|PubMe
O9601368221187187Modified residueNote=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19369195;Dbxref=PMID:19369195
O9601368221187187Modified residueNote=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19369195;Dbxref=PMID:19369195
O9601368221187187Modified residueNote=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19369195;Dbxref=PMID:19369195
O9601368221195195Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19369195;Dbxref=PMID:19369195
O9601368221195195Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19369195;Dbxref=PMID:19369195
O9601368221195195Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19369195;Dbxref=PMID:19369195
O9601368221207207Modified residueNote=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
O9601368221207207Modified residueNote=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
O9601368221207207Modified residueNote=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
O9601368221135135Natural variantID=VAR_040970;Note=R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs56099436,PMID:17344846
O9601368221135135Natural variantID=VAR_040970;Note=R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs56099436,PMID:17344846
O9601368221135135Natural variantID=VAR_040970;Note=R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs56099436,PMID:17344846
O9601368221139139Natural variantID=VAR_040971;Note=A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs35655056,PMID:17344846
O9601368221139139Natural variantID=VAR_040971;Note=A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs35655056,PMID:17344846
O9601368221139139Natural variantID=VAR_040971;Note=A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs35655056,PMID:17344846
O960136822125320RegionNote=Linker
O960136822125320RegionNote=Linker
O960136822125320RegionNote=Linker


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
O960136822169221Alternative sequenceID=VSP_017572;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10574461,ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:17974005;Dbxref=PMID:10574461,PMID:14702039,PMID:17974005
O960136822169221Alternative sequenceID=VSP_017572;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10574461,ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:17974005;Dbxref=PMID:10574461,PMID:14702039,PMID:17974005
O960136822169221Alternative sequenceID=VSP_017572;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10574461,ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:17974005;Dbxref=PMID:10574461,PMID:14702039,PMID:17974005
O9601368221120120Alternative sequenceID=VSP_004892;Note=In isoform 2. E->K;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
O9601368221120120Alternative sequenceID=VSP_004892;Note=In isoform 2. E->K;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
O9601368221120120Alternative sequenceID=VSP_004892;Note=In isoform 2. E->K;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
O9601368221121285Alternative sequenceID=VSP_004893;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
O9601368221121285Alternative sequenceID=VSP_004893;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
O9601368221121285Alternative sequenceID=VSP_004893;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
O9601368221132221Alternative sequenceID=VSP_017573;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
O9601368221132221Alternative sequenceID=VSP_017573;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
O9601368221132221Alternative sequenceID=VSP_017573;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
O96013682211591ChainID=PRO_0000086474;Note=Serine/threonine-protein kinase PAK 4
O96013682211591ChainID=PRO_0000086474;Note=Serine/threonine-protein kinase PAK 4
O96013682211591ChainID=PRO_0000086474;Note=Serine/threonine-protein kinase PAK 4
O9601368221105108Compositional biasNote=Poly-Pro
O9601368221105108Compositional biasNote=Poly-Pro
O9601368221105108Compositional biasNote=Poly-Pro
O96013682217878Modified residueNote=N6-methyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24129315;Dbxref=PMID:24129315
O96013682217878Modified residueNote=N6-methyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24129315;Dbxref=PMID:24129315
O96013682217878Modified residueNote=N6-methyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24129315;Dbxref=PMID:24129315
O9601368221104104Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:19369195;Dbxref=PMID:18691976,PMID:19369195
O9601368221104104Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:19369195;Dbxref=PMID:18691976,PMID:19369195
O9601368221104104Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:19369195;Dbxref=PMID:18691976,PMID:19369195
O9601368221148148Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:19369195;Dbxref=PMID:18691976,PMID:19369195
O9601368221148148Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:19369195;Dbxref=PMID:18691976,PMID:19369195
O9601368221148148Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:19369195;Dbxref=PMID:18691976,PMID:19369195
O9601368221167167Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:19369195;Dbxref=PMID:18691976,PMID:19369195
O9601368221167167Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:19369195;Dbxref=PMID:18691976,PMID:19369195
O9601368221167167Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:19369195;Dbxref=PMID:18691976,PMID:19369195
O9601368221181181Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:19369195,ECO:0000244|PubMed:19690332,ECO:0000244|PubMe
O9601368221181181Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:19369195,ECO:0000244|PubMed:19690332,ECO:0000244|PubMe
O9601368221181181Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:19369195,ECO:0000244|PubMed:19690332,ECO:0000244|PubMe
O9601368221187187Modified residueNote=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19369195;Dbxref=PMID:19369195
O9601368221187187Modified residueNote=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19369195;Dbxref=PMID:19369195
O9601368221187187Modified residueNote=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19369195;Dbxref=PMID:19369195
O9601368221195195Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19369195;Dbxref=PMID:19369195
O9601368221195195Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19369195;Dbxref=PMID:19369195
O9601368221195195Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19369195;Dbxref=PMID:19369195
O9601368221207207Modified residueNote=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
O9601368221207207Modified residueNote=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
O9601368221207207Modified residueNote=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
O9601368221135135Natural variantID=VAR_040970;Note=R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs56099436,PMID:17344846
O9601368221135135Natural variantID=VAR_040970;Note=R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs56099436,PMID:17344846
O9601368221135135Natural variantID=VAR_040970;Note=R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs56099436,PMID:17344846
O9601368221139139Natural variantID=VAR_040971;Note=A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs35655056,PMID:17344846
O9601368221139139Natural variantID=VAR_040971;Note=A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs35655056,PMID:17344846
O9601368221139139Natural variantID=VAR_040971;Note=A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs35655056,PMID:17344846
O960136822125320RegionNote=Linker
O960136822125320RegionNote=Linker
O960136822125320RegionNote=Linker


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SNVs in the skipped exons for PAK4

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.
PAK4_COAD_exon_skip_306804_psi_boxplot.png
boxplot
PAK4_LIHC_exon_skip_306804_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
COADTCGA-CM-6171-01exon_skip_306804
39663558396640163966391339663913Frame_Shift_DelC-p.T187fs
COADTCGA-G4-6628-01exon_skip_306804
39663558396640163966391339663913Frame_Shift_DelC-p.T187fs
LIHCTCGA-DD-A39Y-01exon_skip_306804
39663558396640163966391339663913Frame_Shift_DelC-p.T187fs
LIHCTCGA-G3-A3CJ-01exon_skip_306806
39665571396657043966563339665633Frame_Shift_DelG-p.V234fs

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
PAK4_39660171_39660397_39663557_39664016_39664215_39664291_TCGA-CM-6171-01Sample: TCGA-CM-6171-01
Cancer type: COAD
ESID: exon_skip_306804
Skipped exon start: 39663558
Skipped exon end: 39664016
Mutation start: 39663913
Mutation end: 39663913
Mutation type: Frame_Shift_Del
Reference seq: C
Mutation seq: -
AAchange: p.T187fs
exon_skip_104657_COAD_TCGA-CM-6171-01.png
boxplot
exon_skip_154501_COAD_TCGA-CM-6171-01.png
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exon_skip_154511_COAD_TCGA-CM-6171-01.png
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exon_skip_154521_COAD_TCGA-CM-6171-01.png
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exon_skip_1757_COAD_TCGA-CM-6171-01.png
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exon_skip_306804_COAD_TCGA-CM-6171-01.png
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exon_skip_316878_COAD_TCGA-CM-6171-01.png
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exon_skip_316879_COAD_TCGA-CM-6171-01.png
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exon_skip_366970_COAD_TCGA-CM-6171-01.png
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exon_skip_366972_COAD_TCGA-CM-6171-01.png
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exon_skip_454979_COAD_TCGA-CM-6171-01.png
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exon_skip_49506_COAD_TCGA-CM-6171-01.png
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exon_skip_98040_COAD_TCGA-CM-6171-01.png
boxplot
PAK4_39660171_39660397_39663557_39664016_39664215_39664291_TCGA-G4-6628-01Sample: TCGA-G4-6628-01
Cancer type: COAD
ESID: exon_skip_306804
Skipped exon start: 39663558
Skipped exon end: 39664016
Mutation start: 39663913
Mutation end: 39663913
Mutation type: Frame_Shift_Del
Reference seq: C
Mutation seq: -
AAchange: p.T187fs
exon_skip_142268_COAD_TCGA-G4-6628-01.png
boxplot
exon_skip_306804_COAD_TCGA-G4-6628-01.png
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exon_skip_331095_COAD_TCGA-G4-6628-01.png
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exon_skip_367235_COAD_TCGA-G4-6628-01.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
IGROV1_OVARY39663558396640163966359139663591Frame_Shift_DelG-p.G80fs
IGROV1_OVARY39663558396637463966359139663591Frame_Shift_DelG-p.G80fs
MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE39663558396640163966391339663913Frame_Shift_DelC-p.T187fs
L82_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE39663558396640163966363139663631Missense_MutationCTp.S93L
L82_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE39663558396637463966363139663631Missense_MutationCTp.S93L
KNS60_CENTRAL_NERVOUS_SYSTEM39663558396640163966367339663673Missense_MutationCTp.P107L
KNS60_CENTRAL_NERVOUS_SYSTEM39663558396637463966367339663673Missense_MutationCTp.P107L
TE10_OESOPHAGUS39663558396640163966367339663673Missense_MutationCTp.P107L
TE10_OESOPHAGUS39663558396637463966367339663673Missense_MutationCTp.P107L
NCIH2009_LUNG39663558396640163966370839663708Missense_MutationGCp.E119Q
NCIH2009_LUNG39663558396637463966370839663708Missense_MutationGCp.E119Q
EFO21_OVARY39663558396640163966383839663838Missense_MutationCGp.S162C
SW1463_LARGE_INTESTINE39663558396640163966388539663885Missense_MutationCTp.R178C
PACADD137_PANCREAS39663558396640163966388639663886Missense_MutationGAp.R178H
MERO84_LUNG39663558396640163966392439663924Missense_MutationGTp.A191S
SQ1_LUNG39663558396640163966399339663993Missense_MutationGTp.D214Y
MMACSF_SKIN39665571396657043966558339665583Missense_MutationAGp.R371G
FUOV1_OVARY39665571396657043966563739665637Missense_MutationGTp.D389Y

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PAK4

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 PAK4


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PAK4


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RelatedDrugs for PAK4

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
GeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
O96013DB12010FostamatinibSerine/threonine-protein kinase PAK 4small moleculeapproved|investigational

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RelatedDiseases for PAK4

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource