ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for PAK4

Gene summary

Gene information	Gene symbol	PAK4
	Gene ID	10298
	Gene name	p21 (RAC1) activated kinase 4
	Synonyms	-
	Cytomap	19q13.2
	Type of gene	protein-coding
	Description	serine/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 date	20200313
	UniProtAcc	A0A024R0J1, A0A024R0L8, B4DUG0, M0R0L9, M0R1R1, M0R2X4, M0R3G6, O96013,
	Context	- 17883396(Functional Protein Kinase Arrays Reveal Inhibition of p-21-activated Kinase 4 by Alpha-Synuclein Oligomers)

Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Gene

GO ID

GO term

PubMed ID

Top

Gene structures and expression levels for PAK4

Skipped exons in the ROSMAP, MSBB, and Mayo 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.

ENSG00000130669

Differentially expressed gene analysis across multiple brain tissues between AD and control.

Tissue type

DEG direction

Base mean exp.

log2FC(AD/control)

P-value

Adj. p-value

Differentially expressed isoform analysis across multiple brain tissues between AD and control.

Tissue type

DEG direction

ENST

Transcript info.

Base mean exp.

log2FC(AD/control)

P-value

Adjc. p-value

Landscape of isoform expressions across multiple brain tissues between AD and control.

Top

Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for PAK4

Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap).

All exon skipping events in AD cohorts.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon
exon_skip_138936	chr19	39125834:39125919:39168230:39168312:39169532:39169757	39168230:39168312
exon_skip_191618	chr19	39125834:39125919:39168230:39168302:39169532:39169757	39168230:39168302
exon_skip_200217	chr19	39156702:39156850:39168230:39168312:39169532:39169757	39168230:39168312
exon_skip_223835	chr19	39169532:39169757:39172918:39173106:39173576:39174010	39172918:39173106
exon_skip_265069	chr19	39168230:39168312:39168625:39168840:39169532:39169757	39168625:39168840
exon_skip_44388	chr19	39169532:39169757:39172918:39173376:39173576:39173651	39172918:39173376
exon_skip_56804	chr19	39125799:39125919:39167992:39168085:39168230:39168312	39167992:39168085
exon_skip_70930	chr19	39169532:39169757:39172918:39173106:39173576:39173651	39172918:39173106

Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control.

Exon skipping information

Tissue type

Avg(PSIs) in AD

Avg(PSIs) in control

Difference (PSI)

Adj. p-value

Top

Open reading frame (ORF) annotation in the exon skipping event for PAK4

Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000593690	39168625	39168840	5UTR-5UTR
ENST00000358301	39172918	39173376	In-frame
ENST00000360442	39172918	39173376	In-frame
ENST00000593690	39172918	39173376	In-frame

Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000358301	39172918	39173376	In-frame
ENST00000360442	39172918	39173376	In-frame
ENST00000593690	39172918	39173376	In-frame

Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000593690	39168625	39168840	5UTR-5UTR
ENST00000358301	39172918	39173376	In-frame
ENST00000360442	39172918	39173376	In-frame
ENST00000593690	39172918	39173376	In-frame

Top

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

p-ENSG00000130669_img4.png
boxplot

Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases.

ENST	Length of mRNA	Length of AA seq.	Genomic start	Genomic end	mRNA start	mRNA end	AA start	AA end
ENST00000358301	2756	591	39172918	39173376	346	803	68	221
ENST00000360442	2872	591	39172918	39173376	458	915	68	221
ENST00000593690	3042	591	39172918	39173376	633	1090	68	221

Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases.

ENST	Length of mRNA	Length of AA seq.	Genomic start	Genomic end	mRNA start	mRNA end	AA start	AA end
ENST00000358301	2756	591	39172918	39173376	346	803	68	221
ENST00000360442	2872	591	39172918	39173376	458	915	68	221
ENST00000593690	3042	591	39172918	39173376	633	1090	68	221

Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases.

ENST	Length of mRNA	Length of AA seq.	Genomic start	Genomic end	mRNA start	mRNA end	AA start	AA end
ENST00000358301	2756	591	39172918	39173376	346	803	68	221
ENST00000360442	2872	591	39172918	39173376	458	915	68	221
ENST00000593690	3042	591	39172918	39173376	633	1090	68	221

Lost protein functional features of individual exon skipping events in ROSMAP.

UniProt acc.	Start of exon skipping (AA)	End of exon skipping (AA)	Protein feature start (AA)	Protein feature end (AA)	Category of protein feature	Description of feature
O96013	68	221	69	221	Alternative sequence	ID=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
O96013	68	221	69	221	Alternative sequence	ID=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
O96013	68	221	69	221	Alternative sequence	ID=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
O96013	68	221	120	120	Alternative sequence	ID=VSP_004892;Note=In isoform 2. E->K;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
O96013	68	221	120	120	Alternative sequence	ID=VSP_004892;Note=In isoform 2. E->K;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
O96013	68	221	120	120	Alternative sequence	ID=VSP_004892;Note=In isoform 2. E->K;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
O96013	68	221	121	285	Alternative sequence	ID=VSP_004893;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
O96013	68	221	121	285	Alternative sequence	ID=VSP_004893;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
O96013	68	221	121	285	Alternative sequence	ID=VSP_004893;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
O96013	68	221	132	221	Alternative sequence	ID=VSP_017573;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
O96013	68	221	132	221	Alternative sequence	ID=VSP_017573;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
O96013	68	221	132	221	Alternative sequence	ID=VSP_017573;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
O96013	68	221	1	591	Chain	ID=PRO_0000086474;Note=Serine/threonine-protein kinase PAK 4
O96013	68	221	1	591	Chain	ID=PRO_0000086474;Note=Serine/threonine-protein kinase PAK 4
O96013	68	221	1	591	Chain	ID=PRO_0000086474;Note=Serine/threonine-protein kinase PAK 4
O96013	68	221	105	108	Compositional bias	Note=Poly-Pro
O96013	68	221	105	108	Compositional bias	Note=Poly-Pro
O96013	68	221	105	108	Compositional bias	Note=Poly-Pro
O96013	68	221	78	78	Modified residue	Note=N6-methyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:24129315;Dbxref=PMID:24129315
O96013	68	221	78	78	Modified residue	Note=N6-methyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:24129315;Dbxref=PMID:24129315
O96013	68	221	78	78	Modified residue	Note=N6-methyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:24129315;Dbxref=PMID:24129315
O96013	68	221	104	104	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18691976,ECO:0000244\|PubMed:19369195;Dbxref=PMID:18691976,PMID:19369195
O96013	68	221	104	104	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18691976,ECO:0000244\|PubMed:19369195;Dbxref=PMID:18691976,PMID:19369195
O96013	68	221	104	104	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18691976,ECO:0000244\|PubMed:19369195;Dbxref=PMID:18691976,PMID:19369195
O96013	68	221	148	148	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18691976,ECO:0000244\|PubMed:19369195;Dbxref=PMID:18691976,PMID:19369195
O96013	68	221	148	148	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18691976,ECO:0000244\|PubMed:19369195;Dbxref=PMID:18691976,PMID:19369195
O96013	68	221	148	148	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18691976,ECO:0000244\|PubMed:19369195;Dbxref=PMID:18691976,PMID:19369195
O96013	68	221	167	167	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18691976,ECO:0000244\|PubMed:19369195;Dbxref=PMID:18691976,PMID:19369195
O96013	68	221	167	167	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18691976,ECO:0000244\|PubMed:19369195;Dbxref=PMID:18691976,PMID:19369195
O96013	68	221	167	167	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18691976,ECO:0000244\|PubMed:19369195;Dbxref=PMID:18691976,PMID:19369195
O96013	68	221	181	181	Modified residue	Note=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
O96013	68	221	181	181	Modified residue	Note=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
O96013	68	221	181	181	Modified residue	Note=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
O96013	68	221	187	187	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:19369195;Dbxref=PMID:19369195
O96013	68	221	187	187	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:19369195;Dbxref=PMID:19369195
O96013	68	221	187	187	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:19369195;Dbxref=PMID:19369195
O96013	68	221	195	195	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:19369195;Dbxref=PMID:19369195
O96013	68	221	195	195	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:19369195;Dbxref=PMID:19369195
O96013	68	221	195	195	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:19369195;Dbxref=PMID:19369195
O96013	68	221	207	207	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
O96013	68	221	207	207	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
O96013	68	221	207	207	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
O96013	68	221	135	135	Natural variant	ID=VAR_040970;Note=R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=dbSNP:rs56099436,PMID:17344846
O96013	68	221	135	135	Natural variant	ID=VAR_040970;Note=R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=dbSNP:rs56099436,PMID:17344846
O96013	68	221	135	135	Natural variant	ID=VAR_040970;Note=R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=dbSNP:rs56099436,PMID:17344846
O96013	68	221	139	139	Natural variant	ID=VAR_040971;Note=A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=dbSNP:rs35655056,PMID:17344846
O96013	68	221	139	139	Natural variant	ID=VAR_040971;Note=A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=dbSNP:rs35655056,PMID:17344846
O96013	68	221	139	139	Natural variant	ID=VAR_040971;Note=A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=dbSNP:rs35655056,PMID:17344846
O96013	68	221	25	320	Region	Note=Linker
O96013	68	221	25	320	Region	Note=Linker
O96013	68	221	25	320	Region	Note=Linker

Lost protein functional features of individual exon skipping events in MSBB.

UniProt acc.	Start of exon skipping (AA)	End of exon skipping (AA)	Protein feature start (AA)	Protein feature end (AA)	Category of protein feature	Description of feature
O96013	68	221	69	221	Alternative sequence	ID=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
O96013	68	221	69	221	Alternative sequence	ID=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
O96013	68	221	69	221	Alternative sequence	ID=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
O96013	68	221	120	120	Alternative sequence	ID=VSP_004892;Note=In isoform 2. E->K;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
O96013	68	221	120	120	Alternative sequence	ID=VSP_004892;Note=In isoform 2. E->K;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
O96013	68	221	120	120	Alternative sequence	ID=VSP_004892;Note=In isoform 2. E->K;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
O96013	68	221	121	285	Alternative sequence	ID=VSP_004893;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
O96013	68	221	121	285	Alternative sequence	ID=VSP_004893;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
O96013	68	221	121	285	Alternative sequence	ID=VSP_004893;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
O96013	68	221	132	221	Alternative sequence	ID=VSP_017573;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
O96013	68	221	132	221	Alternative sequence	ID=VSP_017573;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
O96013	68	221	132	221	Alternative sequence	ID=VSP_017573;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
O96013	68	221	1	591	Chain	ID=PRO_0000086474;Note=Serine/threonine-protein kinase PAK 4
O96013	68	221	1	591	Chain	ID=PRO_0000086474;Note=Serine/threonine-protein kinase PAK 4
O96013	68	221	1	591	Chain	ID=PRO_0000086474;Note=Serine/threonine-protein kinase PAK 4
O96013	68	221	105	108	Compositional bias	Note=Poly-Pro
O96013	68	221	105	108	Compositional bias	Note=Poly-Pro
O96013	68	221	105	108	Compositional bias	Note=Poly-Pro
O96013	68	221	78	78	Modified residue	Note=N6-methyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:24129315;Dbxref=PMID:24129315
O96013	68	221	78	78	Modified residue	Note=N6-methyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:24129315;Dbxref=PMID:24129315
O96013	68	221	78	78	Modified residue	Note=N6-methyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:24129315;Dbxref=PMID:24129315
O96013	68	221	104	104	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18691976,ECO:0000244\|PubMed:19369195;Dbxref=PMID:18691976,PMID:19369195
O96013	68	221	104	104	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18691976,ECO:0000244\|PubMed:19369195;Dbxref=PMID:18691976,PMID:19369195
O96013	68	221	104	104	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18691976,ECO:0000244\|PubMed:19369195;Dbxref=PMID:18691976,PMID:19369195
O96013	68	221	148	148	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18691976,ECO:0000244\|PubMed:19369195;Dbxref=PMID:18691976,PMID:19369195
O96013	68	221	148	148	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18691976,ECO:0000244\|PubMed:19369195;Dbxref=PMID:18691976,PMID:19369195
O96013	68	221	148	148	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18691976,ECO:0000244\|PubMed:19369195;Dbxref=PMID:18691976,PMID:19369195
O96013	68	221	167	167	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18691976,ECO:0000244\|PubMed:19369195;Dbxref=PMID:18691976,PMID:19369195
O96013	68	221	167	167	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18691976,ECO:0000244\|PubMed:19369195;Dbxref=PMID:18691976,PMID:19369195
O96013	68	221	167	167	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18691976,ECO:0000244\|PubMed:19369195;Dbxref=PMID:18691976,PMID:19369195
O96013	68	221	181	181	Modified residue	Note=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
O96013	68	221	181	181	Modified residue	Note=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
O96013	68	221	181	181	Modified residue	Note=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
O96013	68	221	187	187	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:19369195;Dbxref=PMID:19369195
O96013	68	221	187	187	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:19369195;Dbxref=PMID:19369195
O96013	68	221	187	187	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:19369195;Dbxref=PMID:19369195
O96013	68	221	195	195	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:19369195;Dbxref=PMID:19369195
O96013	68	221	195	195	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:19369195;Dbxref=PMID:19369195
O96013	68	221	195	195	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:19369195;Dbxref=PMID:19369195
O96013	68	221	207	207	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
O96013	68	221	207	207	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
O96013	68	221	207	207	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
O96013	68	221	135	135	Natural variant	ID=VAR_040970;Note=R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=dbSNP:rs56099436,PMID:17344846
O96013	68	221	135	135	Natural variant	ID=VAR_040970;Note=R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=dbSNP:rs56099436,PMID:17344846
O96013	68	221	135	135	Natural variant	ID=VAR_040970;Note=R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=dbSNP:rs56099436,PMID:17344846
O96013	68	221	139	139	Natural variant	ID=VAR_040971;Note=A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=dbSNP:rs35655056,PMID:17344846
O96013	68	221	139	139	Natural variant	ID=VAR_040971;Note=A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=dbSNP:rs35655056,PMID:17344846
O96013	68	221	139	139	Natural variant	ID=VAR_040971;Note=A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=dbSNP:rs35655056,PMID:17344846
O96013	68	221	25	320	Region	Note=Linker
O96013	68	221	25	320	Region	Note=Linker
O96013	68	221	25	320	Region	Note=Linker

Lost protein functional features of individual exon skipping events in Mayo.

UniProt acc.	Start of exon skipping (AA)	End of exon skipping (AA)	Protein feature start (AA)	Protein feature end (AA)	Category of protein feature	Description of feature
O96013	68	221	69	221	Alternative sequence	ID=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
O96013	68	221	69	221	Alternative sequence	ID=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
O96013	68	221	69	221	Alternative sequence	ID=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
O96013	68	221	120	120	Alternative sequence	ID=VSP_004892;Note=In isoform 2. E->K;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
O96013	68	221	120	120	Alternative sequence	ID=VSP_004892;Note=In isoform 2. E->K;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
O96013	68	221	120	120	Alternative sequence	ID=VSP_004892;Note=In isoform 2. E->K;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
O96013	68	221	121	285	Alternative sequence	ID=VSP_004893;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
O96013	68	221	121	285	Alternative sequence	ID=VSP_004893;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
O96013	68	221	121	285	Alternative sequence	ID=VSP_004893;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
O96013	68	221	132	221	Alternative sequence	ID=VSP_017573;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
O96013	68	221	132	221	Alternative sequence	ID=VSP_017573;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
O96013	68	221	132	221	Alternative sequence	ID=VSP_017573;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
O96013	68	221	1	591	Chain	ID=PRO_0000086474;Note=Serine/threonine-protein kinase PAK 4
O96013	68	221	1	591	Chain	ID=PRO_0000086474;Note=Serine/threonine-protein kinase PAK 4
O96013	68	221	1	591	Chain	ID=PRO_0000086474;Note=Serine/threonine-protein kinase PAK 4
O96013	68	221	105	108	Compositional bias	Note=Poly-Pro
O96013	68	221	105	108	Compositional bias	Note=Poly-Pro
O96013	68	221	105	108	Compositional bias	Note=Poly-Pro
O96013	68	221	78	78	Modified residue	Note=N6-methyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:24129315;Dbxref=PMID:24129315
O96013	68	221	78	78	Modified residue	Note=N6-methyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:24129315;Dbxref=PMID:24129315
O96013	68	221	78	78	Modified residue	Note=N6-methyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:24129315;Dbxref=PMID:24129315
O96013	68	221	104	104	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18691976,ECO:0000244\|PubMed:19369195;Dbxref=PMID:18691976,PMID:19369195
O96013	68	221	104	104	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18691976,ECO:0000244\|PubMed:19369195;Dbxref=PMID:18691976,PMID:19369195
O96013	68	221	104	104	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18691976,ECO:0000244\|PubMed:19369195;Dbxref=PMID:18691976,PMID:19369195
O96013	68	221	148	148	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18691976,ECO:0000244\|PubMed:19369195;Dbxref=PMID:18691976,PMID:19369195
O96013	68	221	148	148	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18691976,ECO:0000244\|PubMed:19369195;Dbxref=PMID:18691976,PMID:19369195
O96013	68	221	148	148	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18691976,ECO:0000244\|PubMed:19369195;Dbxref=PMID:18691976,PMID:19369195
O96013	68	221	167	167	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18691976,ECO:0000244\|PubMed:19369195;Dbxref=PMID:18691976,PMID:19369195
O96013	68	221	167	167	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18691976,ECO:0000244\|PubMed:19369195;Dbxref=PMID:18691976,PMID:19369195
O96013	68	221	167	167	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18691976,ECO:0000244\|PubMed:19369195;Dbxref=PMID:18691976,PMID:19369195
O96013	68	221	181	181	Modified residue	Note=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
O96013	68	221	181	181	Modified residue	Note=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
O96013	68	221	181	181	Modified residue	Note=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
O96013	68	221	187	187	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:19369195;Dbxref=PMID:19369195
O96013	68	221	187	187	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:19369195;Dbxref=PMID:19369195
O96013	68	221	187	187	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:19369195;Dbxref=PMID:19369195
O96013	68	221	195	195	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:19369195;Dbxref=PMID:19369195
O96013	68	221	195	195	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:19369195;Dbxref=PMID:19369195
O96013	68	221	195	195	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:19369195;Dbxref=PMID:19369195
O96013	68	221	207	207	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
O96013	68	221	207	207	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
O96013	68	221	207	207	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
O96013	68	221	135	135	Natural variant	ID=VAR_040970;Note=R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=dbSNP:rs56099436,PMID:17344846
O96013	68	221	135	135	Natural variant	ID=VAR_040970;Note=R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=dbSNP:rs56099436,PMID:17344846
O96013	68	221	135	135	Natural variant	ID=VAR_040970;Note=R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=dbSNP:rs56099436,PMID:17344846
O96013	68	221	139	139	Natural variant	ID=VAR_040971;Note=A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=dbSNP:rs35655056,PMID:17344846
O96013	68	221	139	139	Natural variant	ID=VAR_040971;Note=A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=dbSNP:rs35655056,PMID:17344846
O96013	68	221	139	139	Natural variant	ID=VAR_040971;Note=A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=dbSNP:rs35655056,PMID:17344846
O96013	68	221	25	320	Region	Note=Linker
O96013	68	221	25	320	Region	Note=Linker
O96013	68	221	25	320	Region	Note=Linker

Top

3'-UTR located exon skipping events that lost miRNA binding sites in PAK4

3'-UTR exon skipping evnets lost miRNA binding.

Tissue type

ENST

Exon skip start

Exon skip end

microRNA

Binding site by TargetScan

Binding type by TargetScan

Bdinding site by miRanda

Score of miRanda

Energy by miRanda

Top

SNVs in the skipped exons for PAK4

- Differential PSIs between mutated versus non-mutated samples.

- Depth of Coverage in the skipped exon of the mutated samples.

- Sashimi plot in the skipped exon of the mutated samples.

- Non-synonymous mutations located in the skipped exons.

Cancer type

Sample

ESID

Skipped exon start

Skipped exon end

Mutation start

Mutation end

Mutation type

Reference seq

Mutation seq

AAchange

- Non-synonymous mutations located in the skipped exons in CCLE.

Sample

Skipped exon start

Skipped exon end

Mutation start

Mutation end

Mutation type

Reference seq

Mutation seq

AAchange

Top

AD stage-associated exon skippint events for PAK4

Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR).

AD stage info

Cohort

Tissue

SE id

Coefficient

P-value

Chromosome

Strand

E1 start

E1 end

Skipped start

Skipped end

E2 start

E2 end

Top

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

sQTL information located at the skipped exons.

Tissue type	Exon skip ID	SNP id	Location	P-value	FDR
HCC	exon_skip_138936	rs11083515	chr19:39207334	8.196841e-04	4.992474e-02

Top

Correlation with RNA binding proteins (RBPs) for PAK4

Correlated RBP and related information.

Tissue type	RBP name	Exon skip ID	Correlation coeifficient	P-value
CB	TARDBP	exon_skip_191618	-4.713431e-01	4.087417e-10
CB	CNOT4	exon_skip_191618	-4.528800e-01	2.306679e-09
CB	TRA2A	exon_skip_191618	-4.503431e-01	2.902674e-09
CB	TARDBP	exon_skip_138936	-4.319891e-01	1.449003e-08
CB	TRA2A	exon_skip_138936	-4.325517e-01	1.381258e-08
HCC	PABPN1	exon_skip_44388	5.246035e-01	5.332212e-20
HCC	RBM25	exon_skip_44388	4.070122e-01	6.471176e-12
HCC	ZNF326	exon_skip_44388	5.914780e-01	3.287375e-26
HCC	SFPQ	exon_skip_44388	5.601348e-01	4.001591e-23
HCC	RBM6	exon_skip_44388	6.317882e-01	1.043658e-30
HCC	SAMD4A	exon_skip_44388	6.787963e-01	7.188745e-37
HCC	RBM5	exon_skip_44388	5.817325e-01	3.250341e-25
HCC	SF1	exon_skip_44388	4.377678e-01	9.719262e-14
HCC	HNRNPA2B1	exon_skip_44388	4.695782e-01	7.899028e-16
HCC	RBM45	exon_skip_44388	4.690258e-01	8.624901e-16
HCC	EIF4G2	exon_skip_44388	5.377542e-01	4.105075e-21
HCC	SRSF4	exon_skip_44388	5.203345e-01	1.197058e-19
HCC	HNRNPF	exon_skip_44388	6.357089e-01	3.509232e-31
HCC	RBM4	exon_skip_44388	4.736273e-01	4.126732e-16
HCC	RBM4B	exon_skip_44388	5.633620e-01	1.993266e-23
PCC	ZNF326	exon_skip_44388	4.859727e-01	2.611144e-13
PCC	RBM6	exon_skip_44388	5.144088e-01	5.662157e-15
PCC	SAMD4A	exon_skip_44388	5.895088e-01	3.364385e-20
PCC	PCBP4	exon_skip_44388	4.447022e-01	3.748082e-11
PCC	PUM1	exon_skip_44388	-4.539524e-01	1.303695e-11
PCC	HNRNPF	exon_skip_44388	5.945700e-01	1.332197e-20
TC	PUM1	exon_skip_44388	-5.108920e-01	5.965505e-12
TC	NUP42	exon_skip_44388	-5.502127e-01	5.800529e-14
TC	HNRNPH2	exon_skip_44388	-5.398180e-01	2.093941e-13
TC	ESRP1	exon_skip_44388	-5.062504e-01	9.920709e-12

Top

RelatedDrugs for PAK4

Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)

UniProtAcc	DrugBank ID	Drug name	Drug activity	Drug type	Drug status
O96013	approved\|investigational	DB12010	Fostamatinib	small molecule	O96013

Top

RelatedDiseases for PAK4

Diseases associated with this gene.
(DisGeNet 4.0)

Gene

Disease ID

Disease name

# pubmeds

Source

	Gene summary
	Gene structures and expression levels
	Exon skipping events with PSIs in RPSMAP, MSBB, and Mayo
	Open reading frame (ORF) annotation in the exon skipping event
	Exon skipping events in the canonical protein sequence
	3'-UTR located exon skipping events lost miRNA binding sites
	SNVs in the skipped exons with depth of coverage
	AD stage-associated exon skipping events
	Splicing Quantitative Trait Loci (sQTLs) in the skipped exons
	Correlation with RNA binding proteins (RBPs)
	Related drugs with this gene
	Related diseases with this gene

Home

Download

Statistics

Landscape

Help

Contact

Gene summary for PAK4

Gene structures and expression levels for PAK4

Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for PAK4

Open reading frame (ORF) annotation in the exon skipping event for PAK4

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

3'-UTR located exon skipping events that lost miRNA binding sites in PAK4

SNVs in the skipped exons for PAK4

AD stage-associated exon skippint events for PAK4

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

Correlation with RNA binding proteins (RBPs) for PAK4

RelatedDrugs for PAK4

RelatedDiseases for PAK4