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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 PAK3 |
 Gene summary |
| Gene information | Gene symbol | PAK3 | Gene ID | 5063 |
| Gene name | p21 (RAC1) activated kinase 3 | |
| Synonyms | ARA|MRX30|MRX47|OPHN3|PAK-3|PAK3beta|bPAK|beta-PAK | |
| Cytomap | Xq23 | |
| Type of gene | protein-coding | |
| Description | serine/threonine-protein kinase PAK 3adriamycin resistance-associatedoligophrenin-3p21 (CDKN1A)-activated kinase 3p21 protein (Cdc42/Rac)-activated kinase 3 | |
| Modification date | 20180523 | |
| UniProtAcc | O75914 | |
| Context | PubMed: PAK3 [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 |
| PAK3 | GO:0030833 | regulation of actin filament polymerization | 21177870 |
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Exon skipping events across known transcript of Ensembl for PAK3 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 PAK3 |
| 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 PAK3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_511893 | X | 110339604:110339643:110339770:110339965:110340617:110340684 | 110339770:110339965 | ENSG00000077264.10 | ENST00000484442.1 |
| exon_skip_511894 | X | 110339604:110339643:110340617:110340684:110340802:110340912 | 110340617:110340684 | ENSG00000077264.10 | ENST00000372007.5 |
| exon_skip_511903 | X | 110340802:110340912:110346386:110346534:110366304:110366506 | 110346386:110346534 | ENSG00000077264.10 | ENST00000519681.1,ENST00000518291.1,ENST00000372010.1,ENST00000372007.5 |
| exon_skip_511906 | X | 110346386:110346534:110366304:110366506:110385323:110385424 | 110366304:110366506 | ENSG00000077264.10 | ENST00000519681.1,ENST00000518291.1,ENST00000372010.1,ENST00000372007.5 |
| exon_skip_511907 | X | 110385323:110385424:110388087:110388150:110389748:110389793 | 110388087:110388150 | ENSG00000077264.10 | ENST00000518291.1,ENST00000360648.4,ENST00000429193.1 |
| exon_skip_511908 | X | 110385323:110385424:110388087:110388150:110390964:110391118 | 110388087:110388150 | ENSG00000077264.10 | ENST00000519681.1,ENST00000417227.1 |
| exon_skip_511909 | X | 110385370:110385424:110389748:110389793:110390964:110391118 | 110389748:110389793 | ENSG00000077264.10 | ENST00000372010.1,ENST00000262836.4 |
| exon_skip_511911 | X | 110406142:110406274:110406789:110406955:110416245:110416309 | 110406789:110406955 | ENSG00000077264.10 | ENST00000446737.1,ENST00000519681.1,ENST00000518291.1,ENST00000360648.4,ENST00000372010.1,ENST00000372007.5,ENST00000425146.1,ENST00000417227.1,ENST00000262836.4 |
| exon_skip_511912 | X | 110406789:110406955:110416245:110416309:110435354:110435403 | 110416245:110416309 | ENSG00000077264.10 | ENST00000446737.1,ENST00000519681.1,ENST00000518291.1,ENST00000360648.4,ENST00000372010.1,ENST00000372007.5,ENST00000425146.1,ENST00000417227.1,ENST00000262836.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PAK3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_511893 | X | 110339604:110339643:110339770:110339965:110340617:110340684 | 110339770:110339965 | ENSG00000077264.10 | ENST00000484442.1 |
| exon_skip_511894 | X | 110339604:110339643:110340617:110340684:110340802:110340912 | 110340617:110340684 | ENSG00000077264.10 | ENST00000372007.5 |
| exon_skip_511903 | X | 110340802:110340912:110346386:110346534:110366304:110366506 | 110346386:110346534 | ENSG00000077264.10 | ENST00000372010.1,ENST00000519681.1,ENST00000372007.5,ENST00000518291.1 |
| exon_skip_511906 | X | 110346386:110346534:110366304:110366506:110385323:110385424 | 110366304:110366506 | ENSG00000077264.10 | ENST00000372010.1,ENST00000519681.1,ENST00000372007.5,ENST00000518291.1 |
| exon_skip_511907 | X | 110385323:110385424:110388087:110388150:110389748:110389793 | 110388087:110388150 | ENSG00000077264.10 | ENST00000518291.1,ENST00000429193.1,ENST00000360648.4 |
| exon_skip_511908 | X | 110385323:110385424:110388087:110388150:110390964:110391118 | 110388087:110388150 | ENSG00000077264.10 | ENST00000519681.1,ENST00000417227.1 |
| exon_skip_511909 | X | 110385370:110385424:110389748:110389793:110390964:110391118 | 110389748:110389793 | ENSG00000077264.10 | ENST00000372010.1,ENST00000262836.4 |
| exon_skip_511910 | X | 110388087:110388150:110389748:110389793:110390964:110391118 | 110389748:110389793 | ENSG00000077264.10 | ENST00000518291.1,ENST00000429193.1,ENST00000360648.4 |
| exon_skip_511911 | X | 110406142:110406274:110406789:110406955:110416245:110416309 | 110406789:110406955 | ENSG00000077264.10 | ENST00000446737.1,ENST00000425146.1,ENST00000372010.1,ENST00000519681.1,ENST00000372007.5,ENST00000518291.1,ENST00000360648.4,ENST00000417227.1,ENST00000262836.4 |
| exon_skip_511912 | X | 110406789:110406955:110416245:110416309:110435354:110435403 | 110416245:110416309 | ENSG00000077264.10 | ENST00000446737.1,ENST00000425146.1,ENST00000372010.1,ENST00000519681.1,ENST00000372007.5,ENST00000518291.1,ENST00000360648.4,ENST00000417227.1,ENST00000262836.4 |
| 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 PAK3 |
| 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 |
| ENST00000372010 | 110366304 | 110366506 | 5CDS-5UTR |
| ENST00000372010 | 110346386 | 110346534 | 5UTR-5UTR |
| ENST00000262836 | 110406789 | 110406955 | Frame-shift |
| ENST00000372010 | 110406789 | 110406955 | Frame-shift |
| ENST00000262836 | 110416245 | 110416309 | Frame-shift |
| ENST00000372010 | 110416245 | 110416309 | Frame-shift |
| ENST00000262836 | 110389748 | 110389793 | In-frame |
| ENST00000372010 | 110389748 | 110389793 | 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 |
| ENST00000372010 | 110366304 | 110366506 | 5CDS-5UTR |
| ENST00000372010 | 110346386 | 110346534 | 5UTR-5UTR |
| ENST00000262836 | 110406789 | 110406955 | Frame-shift |
| ENST00000372010 | 110406789 | 110406955 | Frame-shift |
| ENST00000262836 | 110416245 | 110416309 | Frame-shift |
| ENST00000372010 | 110416245 | 110416309 | Frame-shift |
| ENST00000262836 | 110389748 | 110389793 | In-frame |
| ENST00000372010 | 110389748 | 110389793 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PAK3 |
| 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 |
| ENST00000262836 | 2195 | 559 | 110389748 | 110389793 | 304 | 348 | 92 | 107 |
| ENST00000372010 | 2623 | 559 | 110389748 | 110389793 | 719 | 763 | 92 | 107 |
| 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 |
| ENST00000262836 | 2195 | 559 | 110389748 | 110389793 | 304 | 348 | 92 | 107 |
| ENST00000372010 | 2623 | 559 | 110389748 | 110389793 | 719 | 763 | 92 | 107 |
| 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 |
| 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 |
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SNVs in the skipped exons for PAK3 |
| - 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 |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_511908 exon_skip_511907 | 110388088 | 110388150 | 110388092 | 110388092 | Frame_Shift_Del | C | - | p.S94fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_511908 exon_skip_511907 | 110388088 | 110388150 | 110388092 | 110388092 | Frame_Shift_Del | C | - | p.S94fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_511909 | 110389749 | 110389793 | 110389779 | 110389779 | Frame_Shift_Del | G | - | p.G103fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_511912 | 110416246 | 110416309 | 110416294 | 110416294 | Frame_Shift_Del | A | - | p.E293fs |
| SARC | TCGA-DX-A3LU-01 | exon_skip_511911 | 110406790 | 110406955 | 110406911 | 110406912 | Frame_Shift_Ins | - | A | p.K262fs |
| SARC | TCGA-DX-A3LU-01 | exon_skip_511911 | 110406790 | 110406955 | 110406911 | 110406912 | Frame_Shift_Ins | - | A | p.S280fs |
| STAD | TCGA-BR-6452-01 | exon_skip_511911 | 110406790 | 110406955 | 110406911 | 110406912 | Frame_Shift_Ins | - | A | p.R277fs |
| - 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 |
| REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 110406790 | 110406955 | 110406912 | 110406912 | Frame_Shift_Del | A | - | p.R256fs |
| NCIH526_LUNG | 110366305 | 110366506 | 110366372 | 110366372 | Missense_Mutation | C | T | p.P14L |
| HEC251_ENDOMETRIUM | 110366305 | 110366506 | 110366405 | 110366405 | Missense_Mutation | C | T | p.S25F |
| HKA1_SKIN | 110366305 | 110366506 | 110366410 | 110366410 | Missense_Mutation | G | A | p.A27T |
| HEC251_ENDOMETRIUM | 110406790 | 110406955 | 110406800 | 110406800 | Missense_Mutation | G | A | p.R219H |
| KYSE150_OESOPHAGUS | 110406790 | 110406955 | 110406854 | 110406854 | Missense_Mutation | C | A | p.P237Q |
| CCK81_LARGE_INTESTINE | 110406790 | 110406955 | 110406916 | 110406916 | Missense_Mutation | A | G | p.K258E |
| SF295_CENTRAL_NERVOUS_SYSTEM | 110416246 | 110416309 | 110416250 | 110416250 | Missense_Mutation | C | A | p.S272R |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PAK3 |
| 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 PAK3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PAK3 |
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RelatedDrugs for PAK3 |
| 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 |
| O75914 | DB12010 | Fostamatinib | Serine/threonine-protein kinase PAK 3 | small molecule | approved|investigational |
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RelatedDiseases for PAK3 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| PAK3 | C0796237 | Mental Retardation, X-Linked 30 | 2 | CTD_human;UNIPROT |
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