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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 PAK1 |
 Gene summary |
| Gene information | Gene symbol | PAK1 | Gene ID | 5058 |
| Gene name | p21 (RAC1) activated kinase 1 | |
| Synonyms | PAKalpha | |
| Cytomap | 11q13.5-q14.1 | |
| Type of gene | protein-coding | |
| Description | serine/threonine-protein kinase PAK 1STE20 homolog, yeastalpha-PAKp21 protein (Cdc42/Rac)-activated kinase 1p21/Cdc42/Rac1-activated kinase 1 (STE20 homolog, yeast)p21/Cdc42/Rac1-activated kinase 1 (yeast Ste20-related)p65-PAK | |
| Modification date | 20180523 | |
| UniProtAcc | Q13153 | |
| Context | PubMed: PAK1 [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 |
| PAK1 | GO:0000165 | MAPK cascade | 8805275 |
| PAK1 | GO:0006468 | protein phosphorylation | 9852149 |
| PAK1 | GO:0030335 | positive regulation of cell migration | 25766321 |
| PAK1 | GO:0031532 | actin cytoskeleton reorganization | 9395435 |
| PAK1 | GO:0033138 | positive regulation of peptidyl-serine phosphorylation | 19667065 |
| PAK1 | GO:0033148 | positive regulation of intracellular estrogen receptor signaling pathway | 16278681 |
| PAK1 | GO:0046777 | protein autophosphorylation | 8805275 |
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Exon skipping events across known transcript of Ensembl for PAK1 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 PAK1 |
| 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 PAK1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_75876 | 11 | 77034313:77034405:77036372:77036421:77043774:77043912 | 77036372:77036421 | ENSG00000149269.5 | ENST00000528203.1,ENST00000278568.4 |
| exon_skip_75881 | 11 | 77034313:77034405:77043774:77043912:77047130:77047304 | 77043774:77043912 | ENSG00000149269.5 | ENST00000356341.3,ENST00000527457.1,ENST00000525542.1 |
| exon_skip_75884 | 11 | 77036372:77036421:77043774:77043912:77047130:77047304 | 77043774:77043912 | ENSG00000149269.5 | ENST00000528203.1,ENST00000278568.4 |
| exon_skip_75885 | 11 | 77040194:77040357:77043774:77043912:77047130:77047327 | 77043774:77043912 | ENSG00000149269.5 | ENST00000533285.1 |
| exon_skip_75887 | 11 | 77047298:77047327:77048368:77048468:77051690:77051808 | 77048368:77048468 | ENSG00000149269.5 | ENST00000528203.1,ENST00000532991.1,ENST00000356341.3,ENST00000533285.1,ENST00000527535.1,ENST00000530617.1,ENST00000278568.4,ENST00000525542.1 |
| exon_skip_75889 | 11 | 77054863:77054976:77060283:77060332:77064580:77064644 | 77060283:77060332 | ENSG00000149269.5 | ENST00000528203.1,ENST00000356341.3,ENST00000530617.1,ENST00000278568.4 |
| exon_skip_75891 | 11 | 77054863:77054976:77060283:77060332:77069942:77069998 | 77060283:77060332 | ENSG00000149269.5 | ENST00000525542.1 |
| exon_skip_75895 | 11 | 77060292:77060332:77064580:77064644:77066712:77066787 | 77064580:77064644 | ENSG00000149269.5 | ENST00000528203.1,ENST00000356341.3,ENST00000530617.1,ENST00000530358.1,ENST00000278568.4 |
| exon_skip_75900 | 11 | 77064580:77064644:77066712:77066887:77069942:77069998 | 77066712:77066887 | ENSG00000149269.5 | ENST00000528203.1,ENST00000356341.3,ENST00000530617.1,ENST00000278568.4 |
| exon_skip_75906 | 11 | 77069942:77070062:77085372:77085410:77090285:77090396 | 77085372:77085410 | ENSG00000149269.5 | ENST00000528203.1,ENST00000356341.3,ENST00000527457.1,ENST00000530617.1,ENST00000278568.4,ENST00000533568.1,ENST00000533468.1 |
| exon_skip_75914 | 11 | 77090427:77090433:77090938:77091039:77103375:77103428 | 77090938:77091039 | ENSG00000149269.5 | ENST00000356341.3,ENST00000524847.1,ENST00000530617.1,ENST00000529248.1,ENST00000278568.4,ENST00000533568.1,ENST00000526910.1 |
| exon_skip_75917 | 11 | 77090961:77091039:77103375:77103586:77122818:77122949 | 77103375:77103586 | ENSG00000149269.5 | ENST00000530617.1 |
| exon_skip_75918 | 11 | 77090961:77091039:77103375:77103586:77184596:77184780 | 77103375:77103586 | ENSG00000149269.5 | ENST00000278568.4 |
| exon_skip_75921 | 11 | 77103375:77103583:77108071:77108138:77122818:77122949 | 77108071:77108138 | ENSG00000149269.5 | ENST00000529248.1 |
| exon_skip_75936 | 11 | 77103487:77103586:77108071:77108138:77185344:77185680 | 77108071:77108138 | ENSG00000149269.5 | ENST00000526968.1 |
| exon_skip_75939 | 11 | 77103487:77103586:77108071:77108203:77122818:77122949 | 77108071:77108203 | ENSG00000149269.5 | ENST00000528592.1 |
| exon_skip_75942 | 11 | 77103487:77103586:77119198:77119277:77122818:77122949 | 77119198:77119277 | ENSG00000149269.5 | ENST00000528633.1 |
| exon_skip_75948 | 11 | 77103375:77103586:77166925:77166982:77184596:77184780 | 77166925:77166982 | ENSG00000149269.5 | ENST00000524847.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PAK1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_75876 | 11 | 77034313:77034405:77036372:77036421:77043774:77043912 | 77036372:77036421 | ENSG00000149269.5 | ENST00000278568.4,ENST00000528203.1 |
| exon_skip_75881 | 11 | 77034313:77034405:77043774:77043912:77047130:77047304 | 77043774:77043912 | ENSG00000149269.5 | ENST00000356341.3,ENST00000527457.1,ENST00000525542.1 |
| exon_skip_75884 | 11 | 77036372:77036421:77043774:77043912:77047130:77047304 | 77043774:77043912 | ENSG00000149269.5 | ENST00000278568.4,ENST00000528203.1 |
| exon_skip_75885 | 11 | 77040194:77040357:77043774:77043912:77047130:77047327 | 77043774:77043912 | ENSG00000149269.5 | ENST00000533285.1 |
| exon_skip_75887 | 11 | 77047298:77047327:77048368:77048468:77051690:77051808 | 77048368:77048468 | ENSG00000149269.5 | ENST00000356341.3,ENST00000530617.1,ENST00000278568.4,ENST00000528203.1,ENST00000525542.1,ENST00000533285.1,ENST00000527535.1,ENST00000532991.1 |
| exon_skip_75889 | 11 | 77054863:77054976:77060283:77060332:77064580:77064644 | 77060283:77060332 | ENSG00000149269.5 | ENST00000356341.3,ENST00000530617.1,ENST00000278568.4,ENST00000528203.1 |
| exon_skip_75891 | 11 | 77054863:77054976:77060283:77060332:77069942:77069998 | 77060283:77060332 | ENSG00000149269.5 | ENST00000525542.1 |
| exon_skip_75895 | 11 | 77060292:77060332:77064580:77064644:77066712:77066787 | 77064580:77064644 | ENSG00000149269.5 | ENST00000356341.3,ENST00000530617.1,ENST00000278568.4,ENST00000528203.1,ENST00000530358.1 |
| exon_skip_75900 | 11 | 77064580:77064644:77066712:77066887:77069942:77069998 | 77066712:77066887 | ENSG00000149269.5 | ENST00000356341.3,ENST00000530617.1,ENST00000278568.4,ENST00000528203.1 |
| exon_skip_75906 | 11 | 77069942:77070062:77085372:77085410:77090285:77090396 | 77085372:77085410 | ENSG00000149269.5 | ENST00000356341.3,ENST00000530617.1,ENST00000278568.4,ENST00000528203.1,ENST00000527457.1,ENST00000533468.1,ENST00000533568.1 |
| exon_skip_75914 | 11 | 77090427:77090433:77090938:77091039:77103375:77103428 | 77090938:77091039 | ENSG00000149269.5 | ENST00000356341.3,ENST00000530617.1,ENST00000278568.4,ENST00000533568.1,ENST00000526910.1,ENST00000529248.1,ENST00000524847.1 |
| exon_skip_75917 | 11 | 77090961:77091039:77103375:77103586:77122818:77122949 | 77103375:77103586 | ENSG00000149269.5 | ENST00000530617.1 |
| exon_skip_75918 | 11 | 77090961:77091039:77103375:77103586:77184596:77184780 | 77103375:77103586 | ENSG00000149269.5 | ENST00000278568.4 |
| exon_skip_75921 | 11 | 77103375:77103583:77108071:77108138:77122818:77122949 | 77108071:77108138 | ENSG00000149269.5 | ENST00000529248.1 |
| exon_skip_75936 | 11 | 77103487:77103586:77108071:77108138:77185344:77185680 | 77108071:77108138 | ENSG00000149269.5 | ENST00000526968.1 |
| exon_skip_75939 | 11 | 77103487:77103586:77108071:77108203:77122818:77122949 | 77108071:77108203 | ENSG00000149269.5 | ENST00000528592.1 |
| exon_skip_75942 | 11 | 77103487:77103586:77119198:77119277:77122818:77122949 | 77119198:77119277 | ENSG00000149269.5 | ENST00000528633.1 |
| exon_skip_75948 | 11 | 77103375:77103586:77166925:77166982:77184596:77184780 | 77166925:77166982 | ENSG00000149269.5 | ENST00000524847.1 |
| 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 PAK1 |
| 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 |
| ENST00000356341 | 77048368 | 77048468 | Frame-shift |
| ENST00000356341 | 77060283 | 77060332 | Frame-shift |
| ENST00000356341 | 77064580 | 77064644 | Frame-shift |
| ENST00000356341 | 77066712 | 77066887 | Frame-shift |
| ENST00000356341 | 77085372 | 77085410 | Frame-shift |
| ENST00000356341 | 77090938 | 77091039 | Frame-shift |
| ENST00000356341 | 77043774 | 77043912 | 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 |
| ENST00000356341 | 77048368 | 77048468 | Frame-shift |
| ENST00000356341 | 77060283 | 77060332 | Frame-shift |
| ENST00000356341 | 77064580 | 77064644 | Frame-shift |
| ENST00000356341 | 77066712 | 77066887 | Frame-shift |
| ENST00000356341 | 77085372 | 77085410 | Frame-shift |
| ENST00000356341 | 77090938 | 77091039 | Frame-shift |
| ENST00000356341 | 77043774 | 77043912 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PAK1 |
| 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 |
| ENST00000356341 | 3754 | 545 | 77043774 | 77043912 | 1946 | 2083 | 471 | 517 |
| 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 |
| ENST00000356341 | 3754 | 545 | 77043774 | 77043912 | 1946 | 2083 | 471 | 517 |
| 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 |
| Q13153 | 471 | 517 | 2 | 545 | Chain | ID=PRO_0000086460;Note=Serine/threonine-protein kinase PAK 1 |
| Q13153 | 471 | 517 | 270 | 521 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| Q13153 | 471 | 517 | 469 | 479 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FXZ |
| Q13153 | 471 | 517 | 487 | 489 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FXZ |
| Q13153 | 471 | 517 | 492 | 501 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FXZ |
| Q13153 | 471 | 517 | 512 | 515 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FXZ |
| Q13153 | 471 | 517 | 515 | 515 | Natural variant | ID=VAR_051654;Note=L->V;Dbxref=dbSNP:rs35345144 |
| Q13153 | 471 | 517 | 503 | 503 | Sequence conflict | Note=E->D;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q13153 | 471 | 517 | 506 | 508 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FXZ |
| 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 |
| Q13153 | 471 | 517 | 2 | 545 | Chain | ID=PRO_0000086460;Note=Serine/threonine-protein kinase PAK 1 |
| Q13153 | 471 | 517 | 270 | 521 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| Q13153 | 471 | 517 | 469 | 479 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FXZ |
| Q13153 | 471 | 517 | 487 | 489 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FXZ |
| Q13153 | 471 | 517 | 492 | 501 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FXZ |
| Q13153 | 471 | 517 | 512 | 515 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FXZ |
| Q13153 | 471 | 517 | 515 | 515 | Natural variant | ID=VAR_051654;Note=L->V;Dbxref=dbSNP:rs35345144 |
| Q13153 | 471 | 517 | 503 | 503 | Sequence conflict | Note=E->D;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q13153 | 471 | 517 | 506 | 508 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FXZ |
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SNVs in the skipped exons for PAK1 |
| - 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. |
PAK1_COAD_exon_skip_75876_psi_boxplot.png |
| - 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 |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_75884 exon_skip_75885 exon_skip_75881 | 77043775 | 77043912 | 77043866 | 77043866 | Frame_Shift_Del | G | - | p.P487fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_75918 exon_skip_75917 | 77103376 | 77103586 | 77103417 | 77103417 | Frame_Shift_Del | T | - | p.K51fs |
| UCEC | TCGA-D1-A17H-01 | exon_skip_75900 | 77066713 | 77066887 | 77066713 | 77066713 | Nonsense_Mutation | G | A | p.R258* |
| UCEC | TCGA-D1-A17H-01 | exon_skip_75900 | 77066713 | 77066887 | 77066713 | 77066713 | Nonsense_Mutation | G | A | p.R258_splice |
| COAD | TCGA-AD-6963-01 | exon_skip_75876 | 77036373 | 77036421 | 77036422 | 77036422 | Splice_Site | C | T | . |
| STAD | TCGA-CG-4476-01 | exon_skip_75900 | 77066713 | 77066887 | 77066712 | 77066712 | Splice_Site | C | T | . |
| STAD | TCGA-CG-4476-01 | exon_skip_75900 | 77066713 | 77066887 | 77066712 | 77066712 | Splice_Site | C | T | p.R258_splice |
| COAD | TCGA-F4-6703-01 | exon_skip_75906 | 77085373 | 77085410 | 77085371 | 77085371 | Splice_Site | A | G | . |
| UCEC | TCGA-BS-A0UV-01 | exon_skip_75918 exon_skip_75917 | 77103376 | 77103586 | 77103375 | 77103375 | Splice_Site | C | T | e1+1 |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-AD-6963-01 |
| Cancer type: COAD | |
| ESID: exon_skip_75876 | |
| Skipped exon start: 77036373 | |
| Skipped exon end: 77036421 | |
| Mutation start: 77036422 | |
| Mutation end: 77036422 | |
| Mutation type: Splice_Site | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: . | |
exon_skip_75876_COAD_TCGA-AD-6963-01.png | |
| - 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 |
| MFE319_ENDOMETRIUM | 77043775 | 77043912 | 77043812 | 77043812 | Missense_Mutation | T | C | p.D505G |
| MAC2A_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 77043775 | 77043912 | 77043864 | 77043864 | Missense_Mutation | C | T | p.E488K |
| SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 77048369 | 77048468 | 77048377 | 77048377 | Missense_Mutation | A | G | p.V403A |
| KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 77048369 | 77048468 | 77048440 | 77048440 | Missense_Mutation | G | A | p.S382L |
| SNGM_ENDOMETRIUM | 77060284 | 77060332 | 77060294 | 77060294 | Missense_Mutation | G | A | p.T292I |
| GIMEN_AUTONOMIC_GANGLIA | 77064581 | 77064644 | 77064641 | 77064641 | Missense_Mutation | C | T | p.S259N |
| JHUEM7_ENDOMETRIUM | 77066713 | 77066887 | 77066720 | 77066720 | Missense_Mutation | C | A | p.E255D |
| COLO320_LARGE_INTESTINE | 77066713 | 77066887 | 77066829 | 77066829 | Missense_Mutation | G | T | p.T219K |
| COLO783_SKIN | 77090939 | 77091039 | 77091012 | 77091012 | Missense_Mutation | G | A | p.P73L |
| SNU81_LARGE_INTESTINE | 77103376 | 77103586 | 77103408 | 77103408 | Missense_Mutation | C | T | p.R53Q |
| NCIH1373_LUNG | 77103376 | 77103586 | 77103422 | 77103422 | Missense_Mutation | C | G | p.K48N |
| NCIH211_LUNG | 77103376 | 77103586 | 77103533 | 77103533 | Missense_Mutation | T | A | p.K11N |
| EN_ENDOMETRIUM | 77048369 | 77048468 | 77048369 | 77048369 | Splice_Site | T | C | p.T406A |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PAK1 |
| 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 |
| exon_skip_75921 | 11 | 77103375:77103583:77108071:77108138:77122818:77122949 | 77108071:77108138 | ENST00000529248.1 | HNSC | rs503406 | chr11:77108136 | G/A | 2.09e-03 |
| exon_skip_75936 | 11 | 77103487:77103586:77108071:77108138:77185344:77185680 | 77108071:77108138 | ENST00000526968.1 | HNSC | rs503406 | chr11:77108136 | G/A | 2.09e-03 |
| exon_skip_75939 | 11 | 77103487:77103586:77108071:77108203:77122818:77122949 | 77108071:77108203 | ENST00000528592.1 | HNSC | rs503406 | chr11:77108136 | G/A | 2.09e-03 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PAK1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PAK1 |
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RelatedDrugs for PAK1 |
| 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 |
| Q13153 | DB12010 | Fostamatinib | Serine/threonine-protein kinase PAK 1 {ECO:0000303|PubMed:8805275} | small molecule | approved|investigational |
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RelatedDiseases for PAK1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| PAK1 | C0007134 | Renal Cell Carcinoma | 1 | CTD_human |
| PAK1 | C0033687 | Proteinuria | 1 | CTD_human |
| PAK1 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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