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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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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 | CLAPO|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 | 20200329 | |
| UniProtAcc | ||
| Context |
| 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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Gene structures and expression levels for PIK3CA |
| Skipped exons in the ROSMAP, MSBB, and Mayo 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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ENSG00000121879
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| CB | UP | ENST00000643187.1 | PIK3CA-205:protein_coding:PIK3CA | 7.283866e+01 | 1.866986e+00 | 2.877140e-11 | 2.290235e-09 |
| CB | UP | ENST00000462255.1 | PIK3CA-202:retained_intron:PIK3CA | 1.828888e+01 | 1.526563e+00 | 9.327857e-04 | 4.871369e-03 |
| TC | UP | ENST00000643187.1 | PIK3CA-205:protein_coding:PIK3CA | 5.837797e+01 | 1.317084e+00 | 1.516077e-05 | 3.607429e-04 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for PIK3CA |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_151715 | chr3 | 179224700:179224821:179225962:179226040:179229272:179229442 | 179225962:179226040 |
| exon_skip_178785 | chr3 | 179230315:179230376:179233289:179233371:179234094:179235098 | 179233289:179233371 |
| exon_skip_195436 | chr3 | 179230225:179230376:179233289:179233371:179234094:179235098 | 179233289:179233371 |
| exon_skip_239380 | chr3 | 179219949:179220052:179220986:179221157:179224081:179224187 | 179220986:179221157 |
| exon_skip_38378 | chr3 | 179201290:179201540:179203544:179203789:179204503:179204588 | 179203544:179203789 |
| exon_skip_98523 | chr3 | 179218210:179218334:179219196:179219277:179219571:179219735 | 179219196:179219277 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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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 ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000263967 | 179219196 | 179219277 | Frame-shift |
| ENST00000263967 | 179225962 | 179226040 | Frame-shift |
| ENST00000263967 | 179203544 | 179203789 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000263967 | 179219196 | 179219277 | Frame-shift |
| ENST00000263967 | 179225962 | 179226040 | Frame-shift |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000263967 | 179219196 | 179219277 | Frame-shift |
| ENST00000263967 | 179220986 | 179221157 | Frame-shift |
| ENST00000263967 | 179225962 | 179226040 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for PIK3CA |
p-ENSG00000121879_img4.png |
| Loci of skipped exons in ROSMAP 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 | 179203544 | 179203789 | 972 | 1216 | 271 | 353 |
| Loci of skipped exons in MSBB 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 |
| Loci of skipped exons in Mayo 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 |
| Lost protein functional features of individual exon skipping events in ROSMAP. |
| 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 | 271 | 353 | 284 | 289 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4JPS |
| P42336 | 271 | 353 | 319 | 321 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5SXA |
| P42336 | 271 | 353 | 323 | 326 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DXT |
| P42336 | 271 | 353 | 332 | 342 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4JPS |
| P42336 | 271 | 353 | 353 | 362 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4JPS |
| P42336 | 271 | 353 | 1 | 1068 | Chain | ID=PRO_0000088785;Note=Phosphatidylinositol 4%2C5-bisphosphate 3-kinase catalytic subunit alpha isoform |
| P42336 | 271 | 353 | 187 | 289 | Domain | Note=PI3K-RBD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00879 |
| P42336 | 271 | 353 | 330 | 487 | Domain | Note=C2 PI3K-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00880 |
| P42336 | 271 | 353 | 271 | 279 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4JPS |
| P42336 | 271 | 353 | 290 | 294 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4JPS |
| P42336 | 271 | 353 | 306 | 309 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4JPS |
| P42336 | 271 | 353 | 327 | 329 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4JPS |
| P42336 | 271 | 353 | 332 | 332 | Natural variant | ID=VAR_042943;Note=S->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7713498;Dbxref=dbSNP:rs1051407,PMID:7713498 |
| P42336 | 271 | 353 | 343 | 343 | Natural variant | ID=VAR_026169;Note=Found in a cancer sample%3B unknown pathological significance. Y->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16533766;Dbxref=PMID:16533766 |
| P42336 | 271 | 353 | 286 | 287 | Sequence conflict | Note=ML->KM;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P42336 | 271 | 353 | 346 | 346 | Sequence conflict | Note=V->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P42336 | 271 | 353 | 348 | 350 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4JPS |
| Lost protein functional features of individual exon skipping events in MSBB. |
| 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 Mayo. |
| 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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3'-UTR located exon skipping events that lost miRNA binding sites in PIK3CA |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for PIK3CA |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - 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 |
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AD stage-associated exon skippint events for PIK3CA |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PIK3CA |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for PIK3CA |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | CNOT4 | exon_skip_98523 | -4.295115e-01 | 8.653465e-08 |
| CB | PCBP4 | exon_skip_98523 | 4.434648e-01 | 2.906923e-08 |
| CB | TRA2A | exon_skip_98523 | -5.405944e-01 | 3.187730e-12 |
| CB | FUBP1 | exon_skip_98523 | -5.402681e-01 | 3.303607e-12 |
| CB | NUP42 | exon_skip_98523 | 5.063526e-01 | 1.105144e-10 |
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RelatedDrugs for PIK3CA |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| P42336 | approved | DB00201 | Caffeine | small molecule | P42336 |
| P42336 | approved|investigational | DB12483 | Copanlisib | small molecule | P42336 |
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RelatedDiseases for PIK3CA |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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