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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 PAK2 |
 Gene summary |
| Gene information | Gene symbol | PAK2 | Gene ID | 5062 |
| Gene name | p21 (RAC1) activated kinase 2 | |
| Synonyms | PAK65|PAKgamma | |
| Cytomap | 3q29 | |
| Type of gene | protein-coding | |
| Description | serine/threonine-protein kinase PAK 2PAK-2S6/H4 kinasegamma-PAKp21 (CDKN1A)-activated kinase 2p21 protein (Cdc42/Rac)-activated kinase 2p21-activated kinase 2p58 | |
| Modification date | 20180523 | |
| UniProtAcc | Q13177 | |
| Context | PubMed: PAK2 [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 |
| PAK2 | GO:0006468 | protein phosphorylation | 11805089 |
| PAK2 | GO:0016310 | phosphorylation | 21555521 |
| PAK2 | GO:0018105 | peptidyl-serine phosphorylation | 11121037 |
| PAK2 | GO:0046777 | protein autophosphorylation | 11805089 |
| PAK2 | GO:0050731 | positive regulation of peptidyl-tyrosine phosphorylation | 11121037 |
| PAK2 | GO:2001271 | negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis | 21555521 |
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Exon skipping events across known transcript of Ensembl for PAK2 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 PAK2 |
| 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 PAK2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_380739 | 3 | 196509496:196509704:196528797:196528898:196529887:196530035 | 196528797:196528898 | ENSG00000180370.6 | ENST00000327134.3 |
| exon_skip_380741 | 3 | 196539609:196539722:196541321:196541439:196544927:196545027 | 196541321:196541439 | ENSG00000180370.6 | ENST00000426668.1,ENST00000327134.3 |
| exon_skip_380742 | 3 | 196541321:196541439:196544927:196545027:196547241:196547438 | 196544927:196545027 | ENSG00000180370.6 | ENST00000426668.1,ENST00000327134.3 |
| exon_skip_380748 | 3 | 196544927:196545027:196547241:196547438:196554066:196554204 | 196547241:196547438 | ENSG00000180370.6 | ENST00000327134.3 |
| exon_skip_380750 | 3 | 196547264:196547438:196554066:196554204:196555189:196555300 | 196554066:196554204 | ENSG00000180370.6 | ENST00000327134.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PAK2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_380739 | 3 | 196509496:196509704:196528797:196528898:196529887:196530035 | 196528797:196528898 | ENSG00000180370.6 | ENST00000327134.3 |
| exon_skip_380740 | 3 | 196528797:196528898:196529887:196530035:196532222:196532254 | 196529887:196530035 | ENSG00000180370.6 | ENST00000327134.3 |
| exon_skip_380741 | 3 | 196539609:196539722:196541321:196541439:196544927:196545027 | 196541321:196541439 | ENSG00000180370.6 | ENST00000327134.3,ENST00000426668.1 |
| exon_skip_380742 | 3 | 196541321:196541439:196544927:196545027:196547241:196547438 | 196544927:196545027 | ENSG00000180370.6 | ENST00000327134.3,ENST00000426668.1 |
| exon_skip_380748 | 3 | 196544927:196545027:196547241:196547438:196554066:196554204 | 196547241:196547438 | ENSG00000180370.6 | ENST00000327134.3 |
| exon_skip_380750 | 3 | 196547264:196547438:196554066:196554204:196555189:196555300 | 196554066:196554204 | ENSG00000180370.6 | ENST00000327134.3 |
| 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 PAK2 |
| 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 |
| ENST00000327134 | 196528797 | 196528898 | Frame-shift |
| ENST00000327134 | 196541321 | 196541439 | Frame-shift |
| ENST00000327134 | 196544927 | 196545027 | Frame-shift |
| ENST00000327134 | 196547241 | 196547438 | Frame-shift |
| ENST00000327134 | 196554066 | 196554204 | 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 |
| ENST00000327134 | 196528797 | 196528898 | Frame-shift |
| ENST00000327134 | 196529887 | 196530035 | Frame-shift |
| ENST00000327134 | 196541321 | 196541439 | Frame-shift |
| ENST00000327134 | 196544927 | 196545027 | Frame-shift |
| ENST00000327134 | 196547241 | 196547438 | Frame-shift |
| ENST00000327134 | 196554066 | 196554204 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PAK2 |
| 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 |
| ENST00000327134 | 6156 | 524 | 196554066 | 196554204 | 1673 | 1810 | 450 | 496 |
| 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 |
| ENST00000327134 | 6156 | 524 | 196554066 | 196554204 | 1673 | 1810 | 450 | 496 |
| 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 |
| Q13177 | 450 | 496 | 2 | 524 | Chain | ID=PRO_0000086465;Note=Serine/threonine-protein kinase PAK 2 |
| Q13177 | 450 | 496 | 213 | 524 | Chain | ID=PRO_0000304923;Note=PAK-2p34 |
| Q13177 | 450 | 496 | 249 | 499 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| 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 |
| Q13177 | 450 | 496 | 2 | 524 | Chain | ID=PRO_0000086465;Note=Serine/threonine-protein kinase PAK 2 |
| Q13177 | 450 | 496 | 213 | 524 | Chain | ID=PRO_0000304923;Note=PAK-2p34 |
| Q13177 | 450 | 496 | 249 | 499 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
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SNVs in the skipped exons for PAK2 |
| - 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 |
| HNSC | TCGA-CV-5441-01 | exon_skip_380741 | 196541322 | 196541439 | 196541368 | 196541368 | Frame_Shift_Del | G | - | p.G328fs |
| HNSC | TCGA-CV-5441-01 | exon_skip_380741 | 196541322 | 196541439 | 196541368 | 196541368 | Frame_Shift_Del | G | - | p.G329fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_380741 | 196541322 | 196541439 | 196541368 | 196541368 | Frame_Shift_Del | G | - | p.A327fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_380741 | 196541322 | 196541439 | 196541368 | 196541368 | Frame_Shift_Del | G | - | p.G329fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_380741 | 196541322 | 196541439 | 196541368 | 196541368 | Frame_Shift_Del | G | - | p.G329fs |
| STAD | TCGA-D7-A4YV-01 | exon_skip_380741 | 196541322 | 196541439 | 196541368 | 196541368 | Frame_Shift_Del | G | - | p.A327fs |
| COAD | TCGA-G4-6586-01 | exon_skip_380742 | 196544928 | 196545027 | 196544982 | 196544982 | Frame_Shift_Del | A | - | p.I369fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_380748 | 196547242 | 196547438 | 196547351 | 196547351 | Frame_Shift_Del | C | - | p.G421fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_380748 | 196547242 | 196547438 | 196547351 | 196547351 | Frame_Shift_Del | C | - | p.G421fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_380750 | 196554067 | 196554204 | 196554173 | 196554173 | Frame_Shift_Del | A | - | p.E486fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_380750 | 196554067 | 196554204 | 196554173 | 196554173 | Frame_Shift_Del | A | - | p.E486fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_380750 | 196554067 | 196554204 | 196554199 | 196554199 | Frame_Shift_Del | T | - | p.L495fs |
| READ | TCGA-F5-6814-01 | exon_skip_380750 | 196554067 | 196554204 | 196554193 | 196554193 | Nonsense_Mutation | G | T | p.E493X |
| - 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 |
| HEC59_ENDOMETRIUM | 196528798 | 196528898 | 196528885 | 196528885 | Missense_Mutation | C | T | p.T92I |
| SNU81_LARGE_INTESTINE | 196528798 | 196528898 | 196528895 | 196528895 | Missense_Mutation | C | A | p.F95L |
| HEC108_ENDOMETRIUM | 196541322 | 196541439 | 196541380 | 196541380 | Missense_Mutation | A | G | p.T332A |
| EFO27_OVARY | 196547242 | 196547438 | 196547311 | 196547311 | Missense_Mutation | A | G | p.Y408C |
| CW2_LARGE_INTESTINE | 196547242 | 196547438 | 196547335 | 196547335 | Missense_Mutation | C | T | p.T416I |
| SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 196547242 | 196547438 | 196547412 | 196547412 | Missense_Mutation | C | T | p.P442S |
| SNU8_OVARY | 196547242 | 196547438 | 196547436 | 196547436 | Missense_Mutation | A | T | p.R450W |
| HCC515_LUNG | 196554067 | 196554204 | 196554092 | 196554092 | Missense_Mutation | G | C | p.G459A |
| MKN1_STOMACH | 196554067 | 196554204 | 196554115 | 196554115 | Missense_Mutation | G | C | p.E467Q |
| HT55_LARGE_INTESTINE | 196554067 | 196554204 | 196554148 | 196554148 | Missense_Mutation | A | T | p.N478Y |
| RCCFG2_KIDNEY | 196554067 | 196554204 | 196554178 | 196554178 | Missense_Mutation | A | G | p.R488G |
| BICR10_UPPER_AERODIGESTIVE_TRACT | 196554067 | 196554204 | 196554100 | 196554100 | Nonsense_Mutation | G | T | p.E462* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PAK2 |
| 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 PAK2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PAK2 |
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RelatedDrugs for PAK2 |
| 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 |
| Q13177 | DB12010 | Fostamatinib | Serine/threonine-protein kinase PAK 2 | small molecule | approved|investigational |
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RelatedDiseases for PAK2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| PAK2 | C0033687 | Proteinuria | 1 | CTD_human |
| PAK2 | C0036341 | Schizophrenia | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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