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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for PAK6 |
 Gene summary |
| Gene information | Gene symbol | PAK6 | Gene ID | 56924 |
| Gene name | p21 (RAC1) activated kinase 6 | |
| Synonyms | PAK5 | |
| Cytomap | 15q15.1 | |
| Type of gene | protein-coding | |
| Description | serine/threonine-protein kinase PAK 6p21 protein (Cdc42/Rac)-activated kinase 6p21(CDKN1A)-activated kinase 6 | |
| Modification date | 20180523 | |
| UniProtAcc | Q9NQU5 | |
| Context | PubMed: PAK6 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
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Exon skipping events across known transcript of Ensembl for PAK6 from UCSC genome browser |
| Skipped 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. |
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Gene isoform structures and expression levels for PAK6 |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for PAK6 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_120837 | 15 | 40545378:40545490:40549043:40549287:40555999:40556120 | 40549043:40549287 | ENSG00000137843.7 | ENST00000560806.1 |
| exon_skip_120838 | 15 | 40545378:40545490:40556004:40556120:40556981:40557190 | 40556004:40556120 | ENSG00000137843.7 | ENST00000560684.1,ENST00000558183.1 |
| exon_skip_120839 | 15 | 40565751:40565877:40566342:40566477:40568127:40569687 | 40566342:40566477 | ENSG00000137843.7 | ENST00000260404.4,ENST00000560346.1,ENST00000441369.1,ENST00000542403.2,ENST00000453867.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PAK6 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_120837 | 15 | 40545378:40545490:40549043:40549287:40555999:40556120 | 40549043:40549287 | ENSG00000137843.7 | ENST00000560806.1 |
| exon_skip_120839 | 15 | 40565751:40565877:40566342:40566477:40568127:40569687 | 40566342:40566477 | ENSG00000137843.7 | ENST00000441369.1,ENST00000453867.1,ENST00000560346.1,ENST00000260404.4,ENST00000542403.2 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for PAK6 |
| Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000260404 | 40566342 | 40566477 | In-frame |
| ENST00000542403 | 40566342 | 40566477 | In-frame |
| ENST00000560346 | 40566342 | 40566477 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000260404 | 40566342 | 40566477 | In-frame |
| ENST00000542403 | 40566342 | 40566477 | In-frame |
| ENST00000560346 | 40566342 | 40566477 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PAK6 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA 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 |
| ENST00000260404 | 3882 | 681 | 40566342 | 40566477 | 2170 | 2304 | 581 | 626 |
| ENST00000542403 | 2557 | 681 | 40566342 | 40566477 | 1855 | 1989 | 581 | 626 |
| ENST00000560346 | 4037 | 681 | 40566342 | 40566477 | 2327 | 2461 | 581 | 626 |
| Loci of skipped exons in GTEx 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 |
| ENST00000260404 | 3882 | 681 | 40566342 | 40566477 | 2170 | 2304 | 581 | 626 |
| ENST00000542403 | 2557 | 681 | 40566342 | 40566477 | 1855 | 1989 | 581 | 626 |
| ENST00000560346 | 4037 | 681 | 40566342 | 40566477 | 2327 | 2461 | 581 | 626 |
| 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 feature | Description of feature |
| Q9NQU5 | 581 | 626 | 583 | 627 | Alternative sequence | ID=VSP_056733;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9NQU5 | 581 | 626 | 583 | 627 | Alternative sequence | ID=VSP_056733;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9NQU5 | 581 | 626 | 583 | 627 | Alternative sequence | ID=VSP_056733;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9NQU5 | 581 | 626 | 1 | 681 | Chain | ID=PRO_0000086476;Note=Serine/threonine-protein kinase PAK 6 |
| Q9NQU5 | 581 | 626 | 1 | 681 | Chain | ID=PRO_0000086476;Note=Serine/threonine-protein kinase PAK 6 |
| Q9NQU5 | 581 | 626 | 1 | 681 | Chain | ID=PRO_0000086476;Note=Serine/threonine-protein kinase PAK 6 |
| Q9NQU5 | 581 | 626 | 407 | 658 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| Q9NQU5 | 581 | 626 | 407 | 658 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| Q9NQU5 | 581 | 626 | 407 | 658 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| Q9NQU5 | 581 | 626 | 581 | 596 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KS7 |
| Q9NQU5 | 581 | 626 | 581 | 596 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KS7 |
| Q9NQU5 | 581 | 626 | 581 | 596 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KS7 |
| Q9NQU5 | 581 | 626 | 606 | 615 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KS7 |
| Q9NQU5 | 581 | 626 | 606 | 615 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KS7 |
| Q9NQU5 | 581 | 626 | 606 | 615 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KS7 |
| Q9NQU5 | 581 | 626 | 624 | 626 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KS7 |
| Q9NQU5 | 581 | 626 | 624 | 626 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KS7 |
| Q9NQU5 | 581 | 626 | 624 | 626 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KS7 |
| Q9NQU5 | 581 | 626 | 600 | 603 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KS7 |
| Q9NQU5 | 581 | 626 | 600 | 603 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KS7 |
| Q9NQU5 | 581 | 626 | 600 | 603 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KS7 |
| 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 feature | Description of feature |
| Q9NQU5 | 581 | 626 | 583 | 627 | Alternative sequence | ID=VSP_056733;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9NQU5 | 581 | 626 | 583 | 627 | Alternative sequence | ID=VSP_056733;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9NQU5 | 581 | 626 | 583 | 627 | Alternative sequence | ID=VSP_056733;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9NQU5 | 581 | 626 | 1 | 681 | Chain | ID=PRO_0000086476;Note=Serine/threonine-protein kinase PAK 6 |
| Q9NQU5 | 581 | 626 | 1 | 681 | Chain | ID=PRO_0000086476;Note=Serine/threonine-protein kinase PAK 6 |
| Q9NQU5 | 581 | 626 | 1 | 681 | Chain | ID=PRO_0000086476;Note=Serine/threonine-protein kinase PAK 6 |
| Q9NQU5 | 581 | 626 | 407 | 658 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| Q9NQU5 | 581 | 626 | 407 | 658 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| Q9NQU5 | 581 | 626 | 407 | 658 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| Q9NQU5 | 581 | 626 | 581 | 596 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KS7 |
| Q9NQU5 | 581 | 626 | 581 | 596 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KS7 |
| Q9NQU5 | 581 | 626 | 581 | 596 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KS7 |
| Q9NQU5 | 581 | 626 | 606 | 615 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KS7 |
| Q9NQU5 | 581 | 626 | 606 | 615 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KS7 |
| Q9NQU5 | 581 | 626 | 606 | 615 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KS7 |
| Q9NQU5 | 581 | 626 | 624 | 626 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KS7 |
| Q9NQU5 | 581 | 626 | 624 | 626 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KS7 |
| Q9NQU5 | 581 | 626 | 624 | 626 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KS7 |
| Q9NQU5 | 581 | 626 | 600 | 603 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KS7 |
| Q9NQU5 | 581 | 626 | 600 | 603 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KS7 |
| Q9NQU5 | 581 | 626 | 600 | 603 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4KS7 |
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SNVs in the skipped exons for PAK6 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| BRCA | TCGA-E9-A1NC-01 | exon_skip_120839 | 40566343 | 40566477 | 40566446 | 40566447 | Frame_Shift_Ins | - | C | p.P619fs |
| ESCA | TCGA-L5-A4OJ-01 | exon_skip_120839 | 40566343 | 40566477 | 40566472 | 40566472 | Nonsense_Mutation | C | T | p.G625X |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - 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 |
| HEC251_ENDOMETRIUM | 40566343 | 40566477 | 40566380 | 40566380 | Missense_Mutation | T | G | p.M594R |
| GB1_CENTRAL_NERVOUS_SYSTEM | 40566343 | 40566477 | 40566440 | 40566440 | Missense_Mutation | G | A | p.R614Q |
| NCIH2869_PLEURA | 40566343 | 40566477 | 40566440 | 40566440 | Missense_Mutation | G | A | p.R614Q |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PAK6 |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PAK6 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PAK6 |
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RelatedDrugs for PAK6 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Q9NQU5 | DB12010 | Fostamatinib | Serine/threonine-protein kinase PAK 6 | small molecule | approved|investigational |
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RelatedDiseases for PAK6 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| PAK6 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
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