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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 PIK3CB |
 Gene summary |
| Gene information | Gene symbol | PIK3CB | Gene ID | 5291 |
| Gene name | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | |
| Synonyms | P110BETA|PI3K|PI3KBETA|PIK3C1 | |
| Cytomap | 3q22.3 | |
| Type of gene | protein-coding | |
| Description | phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit beta isoformPI3-kinase p110 subunit betaPI3-kinase subunit betaPI3K-betaPtdIns-3-kinase p110phosphatidylinositol 4,5-bisphosphate 3-kinase 110 kDa catalytic subunit betaphosphoinositid | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context | - 28050343(Brain insulin resistance deteriorates cognition by altering the topological features of brain networks) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| PIK3CB | GO:0016310 | phosphorylation | 25327288 |
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Gene structures and expression levels for PIK3CB |
| 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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ENSG00000051382
| 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 | ENST00000473435.1 | PIK3CB-207:nonsense_mediated_decay:PIK3CB | 2.529530e+01 | 9.238961e-01 | 4.847991e-07 | 8.101904e-06 |
| CB | UP | ENST00000462294.1 | PIK3CB-203:protein_coding:PIK3CB | 3.616976e+00 | 1.422756e+00 | 5.325179e-05 | 4.337862e-04 |
| CB | DOWN | ENST00000469284.6 | PIK3CB-206:nonsense_mediated_decay:PIK3CB | 6.652252e+02 | -9.542627e-01 | 4.997320e-04 | 2.879385e-03 |
| 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 PIK3CB |
| 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_102945 | chr3 | 138698907:138699095:138704443:138704493:138712208:138712253 | 138704443:138704493 |
| exon_skip_104624 | chr3 | 138712208:138712304:138714468:138714719:138733361:138733438 | 138714468:138714719 |
| exon_skip_115923 | chr3 | 138684625:138684803:138688875:138688974:138691000:138691062 | 138688875:138688974 |
| exon_skip_144738 | chr3 | 138733361:138733438:138734634:138734804:138737707:138737886 | 138734634:138734804 |
| exon_skip_153167 | chr3 | 138759175:138759359:138796463:138796567:138834695:138834752 | 138796463:138796567 |
| exon_skip_153461 | chr3 | 138737707:138737886:138742558:138742781:138755754:138755979 | 138742558:138742781 |
| exon_skip_165223 | chr3 | 138759175:138759359:138770051:138770117:138796463:138796567 | 138770051:138770117 |
| exon_skip_175845 | chr3 | 138691000:138691143:138694786:138694907:138698907:138699095 | 138694786:138694907 |
| exon_skip_176696 | chr3 | 138665036:138665203:138681967:138682045:138683678:138683787 | 138681967:138682045 |
| exon_skip_194391 | chr3 | 138733363:138733438:138734634:138734804:138737707:138737886 | 138734634:138734804 |
| exon_skip_200219 | chr3 | 138704443:138704493:138707159:138707289:138712208:138712304 | 138707159:138707289 |
| exon_skip_208836 | chr3 | 138684625:138684803:138688875:138688974:138691000:138691143 | 138688875:138688974 |
| exon_skip_209396 | chr3 | 138698907:138699095:138707159:138707289:138712208:138712253 | 138707159:138707289 |
| exon_skip_224448 | chr3 | 138683678:138683787:138688875:138688974:138691000:138691062 | 138688875:138688974 |
| exon_skip_226614 | chr3 | 138742558:138742781:138755754:138755979:138759173:138759359 | 138755754:138755979 |
| exon_skip_242712 | chr3 | 138683678:138683787:138684625:138684803:138688875:138688969 | 138684625:138684803 |
| exon_skip_258531 | chr3 | 138683761:138683787:138684625:138684803:138688875:138688974 | 138684625:138684803 |
| exon_skip_265691 | chr3 | 138655150:138655526:138656142:138656274:138657690:138657835 | 138656142:138656274 |
| exon_skip_276112 | chr3 | 138683678:138683787:138684625:138684803:138688875:138688974 | 138684625:138684803 |
| exon_skip_28188 | chr3 | 138704443:138704493:138707159:138707289:138712208:138712253 | 138707159:138707289 |
| exon_skip_41055 | chr3 | 138737707:138737886:138742558:138742755:138755754:138755979 | 138742558:138742755 |
| exon_skip_49638 | chr3 | 138759173:138759359:138770051:138770117:138796463:138796567 | 138770051:138770117 |
| exon_skip_56747 | chr3 | 138681984:138682045:138683678:138683787:138688875:138688974 | 138683678:138683787 |
| exon_skip_60254 | chr3 | 138694786:138694907:138698907:138699095:138704443:138704493 | 138698907:138699095 |
| exon_skip_70421 | chr3 | 138698907:138699095:138704443:138704493:138707159:138707289 | 138704443:138704493 |
| exon_skip_94492 | chr3 | 138665036:138665203:138681967:138682060:138683678:138683787 | 138681967:138682060 |
| 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 PIK3CB |
| 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 |
| ENST00000289153 | 138681967 | 138682045 | Frame-shift |
| ENST00000477593 | 138681967 | 138682045 | Frame-shift |
| ENST00000289153 | 138684625 | 138684803 | Frame-shift |
| ENST00000477593 | 138684625 | 138684803 | Frame-shift |
| ENST00000289153 | 138688875 | 138688974 | Frame-shift |
| ENST00000477593 | 138688875 | 138688974 | Frame-shift |
| ENST00000289153 | 138694786 | 138694907 | Frame-shift |
| ENST00000477593 | 138694786 | 138694907 | Frame-shift |
| ENST00000289153 | 138707159 | 138707289 | Frame-shift |
| ENST00000477593 | 138707159 | 138707289 | Frame-shift |
| ENST00000289153 | 138704443 | 138704493 | In-frame |
| ENST00000477593 | 138704443 | 138704493 | In-frame |
| ENST00000289153 | 138734634 | 138734804 | In-frame |
| ENST00000477593 | 138734634 | 138734804 | 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 |
| ENST00000289153 | 138684625 | 138684803 | Frame-shift |
| ENST00000477593 | 138684625 | 138684803 | Frame-shift |
| ENST00000289153 | 138688875 | 138688974 | Frame-shift |
| ENST00000477593 | 138688875 | 138688974 | Frame-shift |
| ENST00000289153 | 138707159 | 138707289 | Frame-shift |
| ENST00000477593 | 138707159 | 138707289 | Frame-shift |
| ENST00000289153 | 138704443 | 138704493 | In-frame |
| ENST00000477593 | 138704443 | 138704493 | In-frame |
| ENST00000289153 | 138714468 | 138714719 | In-frame |
| ENST00000477593 | 138714468 | 138714719 | In-frame |
| ENST00000289153 | 138734634 | 138734804 | In-frame |
| ENST00000477593 | 138734634 | 138734804 | In-frame |
| 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 |
| ENST00000289153 | 138656142 | 138656274 | Frame-shift |
| ENST00000477593 | 138656142 | 138656274 | Frame-shift |
| ENST00000289153 | 138681967 | 138682045 | Frame-shift |
| ENST00000477593 | 138681967 | 138682045 | Frame-shift |
| ENST00000289153 | 138684625 | 138684803 | Frame-shift |
| ENST00000477593 | 138684625 | 138684803 | Frame-shift |
| ENST00000289153 | 138688875 | 138688974 | Frame-shift |
| ENST00000477593 | 138688875 | 138688974 | Frame-shift |
| ENST00000289153 | 138694786 | 138694907 | Frame-shift |
| ENST00000477593 | 138694786 | 138694907 | Frame-shift |
| ENST00000289153 | 138707159 | 138707289 | Frame-shift |
| ENST00000477593 | 138707159 | 138707289 | Frame-shift |
| ENST00000289153 | 138742558 | 138742781 | Frame-shift |
| ENST00000477593 | 138742558 | 138742781 | Frame-shift |
| ENST00000477593 | 138755754 | 138755979 | Frame-shift |
| ENST00000289153 | 138698907 | 138699095 | In-frame |
| ENST00000477593 | 138698907 | 138699095 | In-frame |
| ENST00000289153 | 138704443 | 138704493 | In-frame |
| ENST00000477593 | 138704443 | 138704493 | In-frame |
| ENST00000289153 | 138734634 | 138734804 | In-frame |
| ENST00000477593 | 138734634 | 138734804 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PIK3CB |
p-ENSG00000051382_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 |
| ENST00000289153 | 5936 | 1070 | 138734634 | 138734804 | 818 | 987 | 267 | 323 |
| ENST00000477593 | 4675 | 1070 | 138734634 | 138734804 | 876 | 1045 | 267 | 323 |
| ENST00000289153 | 5936 | 1070 | 138704443 | 138704493 | 1547 | 1596 | 510 | 526 |
| ENST00000477593 | 4675 | 1070 | 138704443 | 138704493 | 1605 | 1654 | 510 | 526 |
| 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 |
| ENST00000289153 | 5936 | 1070 | 138734634 | 138734804 | 818 | 987 | 267 | 323 |
| ENST00000477593 | 4675 | 1070 | 138734634 | 138734804 | 876 | 1045 | 267 | 323 |
| ENST00000289153 | 5936 | 1070 | 138714468 | 138714719 | 1067 | 1317 | 350 | 433 |
| ENST00000477593 | 4675 | 1070 | 138714468 | 138714719 | 1125 | 1375 | 350 | 433 |
| ENST00000289153 | 5936 | 1070 | 138704443 | 138704493 | 1547 | 1596 | 510 | 526 |
| ENST00000477593 | 4675 | 1070 | 138704443 | 138704493 | 1605 | 1654 | 510 | 526 |
| 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 |
| ENST00000289153 | 5936 | 1070 | 138734634 | 138734804 | 818 | 987 | 267 | 323 |
| ENST00000477593 | 4675 | 1070 | 138734634 | 138734804 | 876 | 1045 | 267 | 323 |
| ENST00000289153 | 5936 | 1070 | 138704443 | 138704493 | 1547 | 1596 | 510 | 526 |
| ENST00000477593 | 4675 | 1070 | 138704443 | 138704493 | 1605 | 1654 | 510 | 526 |
| ENST00000289153 | 5936 | 1070 | 138698907 | 138699095 | 1598 | 1785 | 527 | 589 |
| ENST00000477593 | 4675 | 1070 | 138698907 | 138699095 | 1656 | 1843 | 527 | 589 |
| 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 |
| P42338 | 267 | 323 | 1 | 1070 | Chain | ID=PRO_0000088787;Note=Phosphatidylinositol 4%2C5-bisphosphate 3-kinase catalytic subunit beta isoform |
| P42338 | 267 | 323 | 1 | 1070 | Chain | ID=PRO_0000088787;Note=Phosphatidylinositol 4%2C5-bisphosphate 3-kinase catalytic subunit beta isoform |
| P42338 | 267 | 323 | 194 | 285 | Domain | Note=PI3K-RBD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00879 |
| P42338 | 267 | 323 | 194 | 285 | Domain | Note=PI3K-RBD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00879 |
| P42338 | 510 | 526 | 1 | 1070 | Chain | ID=PRO_0000088787;Note=Phosphatidylinositol 4%2C5-bisphosphate 3-kinase catalytic subunit beta isoform |
| P42338 | 510 | 526 | 1 | 1070 | Chain | ID=PRO_0000088787;Note=Phosphatidylinositol 4%2C5-bisphosphate 3-kinase catalytic subunit beta isoform |
| P42338 | 510 | 526 | 524 | 701 | Domain | Note=PIK helical;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00878 |
| P42338 | 510 | 526 | 524 | 701 | Domain | Note=PIK helical;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00878 |
| 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 |
| P42338 | 267 | 323 | 1 | 1070 | Chain | ID=PRO_0000088787;Note=Phosphatidylinositol 4%2C5-bisphosphate 3-kinase catalytic subunit beta isoform |
| P42338 | 267 | 323 | 1 | 1070 | Chain | ID=PRO_0000088787;Note=Phosphatidylinositol 4%2C5-bisphosphate 3-kinase catalytic subunit beta isoform |
| P42338 | 267 | 323 | 194 | 285 | Domain | Note=PI3K-RBD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00879 |
| P42338 | 267 | 323 | 194 | 285 | Domain | Note=PI3K-RBD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00879 |
| P42338 | 350 | 433 | 1 | 1070 | Chain | ID=PRO_0000088787;Note=Phosphatidylinositol 4%2C5-bisphosphate 3-kinase catalytic subunit beta isoform |
| P42338 | 350 | 433 | 1 | 1070 | Chain | ID=PRO_0000088787;Note=Phosphatidylinositol 4%2C5-bisphosphate 3-kinase catalytic subunit beta isoform |
| P42338 | 350 | 433 | 327 | 496 | Domain | Note=C2 PI3K-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00880 |
| P42338 | 350 | 433 | 327 | 496 | Domain | Note=C2 PI3K-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00880 |
| P42338 | 350 | 433 | 410 | 418 | Motif | Note=Nuclear localization signal |
| P42338 | 350 | 433 | 410 | 418 | Motif | Note=Nuclear localization signal |
| P42338 | 510 | 526 | 1 | 1070 | Chain | ID=PRO_0000088787;Note=Phosphatidylinositol 4%2C5-bisphosphate 3-kinase catalytic subunit beta isoform |
| P42338 | 510 | 526 | 1 | 1070 | Chain | ID=PRO_0000088787;Note=Phosphatidylinositol 4%2C5-bisphosphate 3-kinase catalytic subunit beta isoform |
| P42338 | 510 | 526 | 524 | 701 | Domain | Note=PIK helical;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00878 |
| P42338 | 510 | 526 | 524 | 701 | Domain | Note=PIK helical;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00878 |
| 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 |
| P42338 | 267 | 323 | 1 | 1070 | Chain | ID=PRO_0000088787;Note=Phosphatidylinositol 4%2C5-bisphosphate 3-kinase catalytic subunit beta isoform |
| P42338 | 267 | 323 | 1 | 1070 | Chain | ID=PRO_0000088787;Note=Phosphatidylinositol 4%2C5-bisphosphate 3-kinase catalytic subunit beta isoform |
| P42338 | 267 | 323 | 194 | 285 | Domain | Note=PI3K-RBD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00879 |
| P42338 | 267 | 323 | 194 | 285 | Domain | Note=PI3K-RBD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00879 |
| P42338 | 510 | 526 | 1 | 1070 | Chain | ID=PRO_0000088787;Note=Phosphatidylinositol 4%2C5-bisphosphate 3-kinase catalytic subunit beta isoform |
| P42338 | 510 | 526 | 1 | 1070 | Chain | ID=PRO_0000088787;Note=Phosphatidylinositol 4%2C5-bisphosphate 3-kinase catalytic subunit beta isoform |
| P42338 | 510 | 526 | 524 | 701 | Domain | Note=PIK helical;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00878 |
| P42338 | 510 | 526 | 524 | 701 | Domain | Note=PIK helical;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00878 |
| P42338 | 527 | 589 | 1 | 1070 | Chain | ID=PRO_0000088787;Note=Phosphatidylinositol 4%2C5-bisphosphate 3-kinase catalytic subunit beta isoform |
| P42338 | 527 | 589 | 1 | 1070 | Chain | ID=PRO_0000088787;Note=Phosphatidylinositol 4%2C5-bisphosphate 3-kinase catalytic subunit beta isoform |
| P42338 | 527 | 589 | 524 | 701 | Domain | Note=PIK helical;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00878 |
| P42338 | 527 | 589 | 524 | 701 | Domain | Note=PIK helical;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00878 |
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3'-UTR located exon skipping events that lost miRNA binding sites in PIK3CB |
| 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 PIK3CB |
| - 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 PIK3CB |
| 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 PIK3CB |
| 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 PIK3CB |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | RBM6 | exon_skip_258531 | -4.095306e-01 | 1.952353e-07 |
| CB | TRA2A | exon_skip_258531 | -4.231397e-01 | 6.866561e-08 |
| CB | FUBP1 | exon_skip_258531 | -4.127467e-01 | 1.531494e-07 |
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RelatedDrugs for PIK3CB |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| P42338 | approved | DB00201 | Caffeine | small molecule | P42338 |
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RelatedDiseases for PIK3CB |
| 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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