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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 PIK3CA |
 Gene summary |
| Gene information | Gene symbol | PIK3CA | Gene ID | 5290 |
| Gene name | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | |
| Synonyms | CLOVE|CWS5|MCAP|MCM|MCMTC|PI3K|PI3K-alpha|p110-alpha | |
| Cytomap | 3q26.32 | |
| Type of gene | protein-coding | |
| Description | phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoformPI3-kinase p110 subunit alphaphosphatidylinositol 3-kinase, catalytic, 110-KD, alphaphosphatidylinositol 3-kinase, catalytic, alpha polypeptidephosphatidylinositol-4,5-bisph | |
| Modification date | 20180523 | |
| UniProtAcc | P42336 | |
| Context | PubMed: PIK3CA [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 |
| PIK3CA | GO:0016310 | phosphorylation | 25327288 |
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Exon skipping events across known transcript of Ensembl for PIK3CA 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 PIK3CA |
| 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 PIK3CA |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_379545 | 3 | 178927973:178928126:178928218:178928353:178935997:178936122 | 178928218:178928353 | ENSG00000121879.3 | ENST00000263967.3 |
| exon_skip_379546 | 3 | 178935997:178936122:178936983:178937065:178937358:178937523 | 178936983:178937065 | ENSG00000121879.3 | ENST00000263967.3 |
| exon_skip_379548 | 3 | 178947791:178947909:178948012:178948164:178951881:178957881 | 178948012:178948164 | ENSG00000121879.3 | ENST00000263967.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PIK3CA |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_379545 | 3 | 178927973:178928126:178928218:178928353:178935997:178936122 | 178928218:178928353 | ENSG00000121879.3 | ENST00000263967.3 |
| exon_skip_379546 | 3 | 178935997:178936122:178936983:178937065:178937358:178937523 | 178936983:178937065 | ENSG00000121879.3 | ENST00000263967.3 |
| exon_skip_379548 | 3 | 178947791:178947909:178948012:178948164:178951881:178957881 | 178948012:178948164 | ENSG00000121879.3 | ENST00000263967.3 |
| 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 PIK3CA |
| 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 |
| ENST00000263967 | 178936983 | 178937065 | Frame-shift |
| ENST00000263967 | 178948012 | 178948164 | Frame-shift |
| ENST00000263967 | 178928218 | 178928353 | 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 |
| ENST00000263967 | 178936983 | 178937065 | Frame-shift |
| ENST00000263967 | 178948012 | 178948164 | Frame-shift |
| ENST00000263967 | 178928218 | 178928353 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PIK3CA |
| 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 |
| ENST00000263967 | 9110 | 1068 | 178928218 | 178928353 | 1562 | 1696 | 468 | 513 |
| 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 |
| ENST00000263967 | 9110 | 1068 | 178928218 | 178928353 | 1562 | 1696 | 468 | 513 |
| 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 |
| P42336 | 468 | 513 | 468 | 470 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4JPS |
| P42336 | 468 | 513 | 472 | 477 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4JPS |
| P42336 | 468 | 513 | 481 | 485 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DXT |
| P42336 | 468 | 513 | 504 | 506 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5SWP |
| P42336 | 468 | 513 | 1 | 1068 | Chain | ID=PRO_0000088785;Note=Phosphatidylinositol 4%2C5-bisphosphate 3-kinase catalytic subunit alpha isoform |
| P42336 | 468 | 513 | 330 | 487 | Domain | Note=C2 PI3K-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00880 |
| P42336 | 468 | 513 | 489 | 492 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4JPS |
| P42336 | 468 | 513 | 495 | 498 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RD0 |
| P42336 | 468 | 513 | 508 | 512 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DXT |
| P42336 | 468 | 513 | 513 | 515 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5SXB |
| 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 |
| P42336 | 468 | 513 | 468 | 470 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4JPS |
| P42336 | 468 | 513 | 472 | 477 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4JPS |
| P42336 | 468 | 513 | 481 | 485 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DXT |
| P42336 | 468 | 513 | 504 | 506 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5SWP |
| P42336 | 468 | 513 | 1 | 1068 | Chain | ID=PRO_0000088785;Note=Phosphatidylinositol 4%2C5-bisphosphate 3-kinase catalytic subunit alpha isoform |
| P42336 | 468 | 513 | 330 | 487 | Domain | Note=C2 PI3K-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00880 |
| P42336 | 468 | 513 | 489 | 492 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4JPS |
| P42336 | 468 | 513 | 495 | 498 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RD0 |
| P42336 | 468 | 513 | 508 | 512 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DXT |
| P42336 | 468 | 513 | 513 | 515 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5SXB |
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SNVs in the skipped exons for PIK3CA |
| - 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-G3-A3CJ-01 | exon_skip_379548 | 178948013 | 178948164 | 178948016 | 178948016 | Frame_Shift_Del | T | - | p.F930fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_379548 | 178948013 | 178948164 | 178948055 | 178948055 | Frame_Shift_Del | A | - | p.K944fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_379548 | 178948013 | 178948164 | 178948055 | 178948055 | Frame_Shift_Del | A | - | p.K944fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_379548 | 178948013 | 178948164 | 178948055 | 178948055 | Frame_Shift_Del | A | - | p.K944fs |
| STAD | TCGA-BR-6852-01 | exon_skip_379545 | 178928219 | 178928353 | 178928348 | 178928348 | Nonsense_Mutation | G | T | p.G512* |
| SKCM | TCGA-GN-A26C-01 | exon_skip_379546 | 178936984 | 178937065 | 178937063 | 178937063 | Nonsense_Mutation | C | T | p.Q582* |
| - 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 |
| CCK81_LARGE_INTESTINE | 178928219 | 178928353 | 178928229 | 178928229 | Missense_Mutation | G | A | p.C472Y |
| EFO27_OVARY | 178928219 | 178928353 | 178928342 | 178928342 | Missense_Mutation | C | A | p.H510N |
| MDAMB361_BREAST | 178936984 | 178937065 | 178937019 | 178937019 | Missense_Mutation | A | G | p.K567R |
| BEN_LUNG | 178948013 | 178948164 | 178948127 | 178948127 | Missense_Mutation | G | A | p.G967R |
| SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 178948013 | 178948164 | 178948136 | 178948136 | Missense_Mutation | G | A | p.E970K |
| JHUEM2_ENDOMETRIUM | 178948013 | 178948164 | 178948160 | 178948160 | Missense_Mutation | G | A | p.E978K |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PIK3CA |
| 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 PIK3CA |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PIK3CA |
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RelatedDrugs for PIK3CA |
| 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 |
| P42336 | DB00201 | Caffeine | Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform | small molecule | approved | |
| P42336 | DB12483 | Copanlisib | Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform | small molecule | approved|investigational |
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RelatedDiseases for PIK3CA |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| PIK3CA | C2752042 | Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi | 17 | ORPHANET;UNIPROT |
| PIK3CA | C1865285 | Megalencephaly cutis marmorata telangiectatica congenita | 15 | ORPHANET;UNIPROT |
| PIK3CA | C1458155 | Mammary Neoplasms | 8 | CTD_human |
| PIK3CA | C0022603 | Seborrheic keratosis | 4 | CTD_human;UNIPROT |
| PIK3CA | C3554518 | COWDEN SYNDROME 5 | 3 | UNIPROT |
| PIK3CA | C0001418 | Adenocarcinoma | 1 | CTD_human |
| PIK3CA | C0007117 | Basal cell carcinoma | 1 | CTD_human |
| PIK3CA | C0007134 | Renal Cell Carcinoma | 1 | CTD_human;HPO |
| PIK3CA | C0007137 | Squamous cell carcinoma | 1 | CTD_human |
| PIK3CA | C0010606 | Adenoid Cystic Carcinoma | 1 | CTD_human |
| PIK3CA | C0015923 | Fetal Alcohol Syndrome | 1 | PSYGENET |
| PIK3CA | C0018273 | Growth Disorders | 1 | CTD_human |
| PIK3CA | C0020507 | Hyperplasia | 1 | CTD_human |
| PIK3CA | C0026640 | Mouth Neoplasms | 1 | CTD_human |
| PIK3CA | C0030849 | Penile Neoplasms | 1 | CTD_human |
| PIK3CA | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| PIK3CA | C0036341 | Schizophrenia | 1 | PSYGENET |
| PIK3CA | C0038356 | Stomach Neoplasms | 1 | CTD_human;HPO |
| PIK3CA | C0043094 | Weight Gain | 1 | CTD_human |
| PIK3CA | C0079744 | Diffuse Large B-Cell Lymphoma | 1 | CTD_human |
| PIK3CA | C0152013 | Adenocarcinoma of lung (disorder) | 1 | CTD_human |
| PIK3CA | C0279628 | Adenocarcinoma Of Esophagus | 1 | CTD_human |
| PIK3CA | C1168401 | Squamous cell carcinoma of the head and neck | 1 | CTD_human |
| PIK3CA | C1261473 | Sarcoma | 1 | CTD_human |
| PIK3CA | C1527249 | Colorectal Cancer | 1 | UNIPROT |
| PIK3CA | C1863924 | Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome | 1 | CTD_human |
| PIK3CA | C1955869 | Malformations of Cortical Development | 1 | CTD_human |
| PIK3CA | C2931822 | Nasopharyngeal carcinoma | 1 | CTD_human |
| PIK3CA | C2985290 | Fetal Alcohol Spectrum Disorders | 1 | PSYGENET |
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