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Open reading frame (ORF) annotation in the exon skipping event | |
3'-UTR located exon skipping events lost miRNA binding sites | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Gene summary for PIK3R1 |
Gene summary |
Gene information | Gene symbol | PIK3R1 | Gene ID | 5295 |
Gene name | phosphoinositide-3-kinase regulatory subunit 1 | |
Synonyms | AGM7|GRB1|IMD36|p85|p85-ALPHA | |
Cytomap | 5q13.1 | |
Type of gene | protein-coding | |
Description | phosphatidylinositol 3-kinase regulatory subunit alphaPI3-kinase subunit p85-alphaPI3K regulatory subunit alphaphosphatidylinositol 3-kinase 85 kDa regulatory subunit alphaphosphatidylinositol 3-kinase, regulatory subunit, polypeptide 1 (p85 alpha)ph | |
Modification date | 20200327 | |
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 |
PIK3R1 | GO:0014065 | phosphatidylinositol 3-kinase signaling | 7782332 |
PIK3R1 | GO:0034976 | response to endoplasmic reticulum stress | 20348923 |
PIK3R1 | GO:0042307 | positive regulation of protein import into nucleus | 20348923 |
PIK3R1 | GO:0048009 | insulin-like growth factor receptor signaling pathway | 7782332 |
PIK3R1 | GO:0050821 | protein stabilization | 20348923 |
PIK3R1 | GO:0060396 | growth hormone receptor signaling pathway | 7782332 |
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Gene structures and expression levels for PIK3R1 |
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. |
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. |
Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
PG | UP | ENST00000520675.1 | PIK3R1-210:protein_coding:PIK3R1 | 2.181164e+00 | 3.166938e+00 | 4.561775e-03 | 4.285376e-02 |
CB | UP | ENST00000320694.12 | PIK3R1-201:protein_coding:PIK3R1 | 1.697341e+01 | 8.106297e-01 | 5.224625e-05 | 4.268996e-04 |
CB | UP | ENST00000523872.1 | PIK3R1-216:protein_coding:PIK3R1 | 2.004662e+00 | 1.536893e+00 | 7.817280e-03 | 2.841564e-02 |
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 PIK3R1 |
Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
All exon skipping events in AD cohorts. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
exon_skip_112805 | chr5 | 68288695:68288751:68292259:68292361:68293101:68293199 | 68292259:68292361 |
exon_skip_149414 | chr5 | 68226437:68227009:68273390:68273482:68273939:68274013 | 68273390:68273482 |
exon_skip_53025 | chr5 | 68290682:68290834:68292259:68292361:68293101:68293199 | 68292259:68292361 |
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 PIK3R1 |
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 |
ENST00000521381 | 68273390 | 68273482 | In-frame |
ENST00000521657 | 68273390 | 68273482 | 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 |
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 |
ENST00000521381 | 68273390 | 68273482 | In-frame |
ENST00000521657 | 68273390 | 68273482 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PIK3R1 |
p-ENSG00000145675_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 |
ENST00000521381 | 7028 | 724 | 68273390 | 68273482 | 952 | 1043 | 112 | 142 |
ENST00000521657 | 3908 | 724 | 68273390 | 68273482 | 900 | 991 | 112 | 142 |
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 |
ENST00000521381 | 7028 | 724 | 68273390 | 68273482 | 952 | 1043 | 112 | 142 |
ENST00000521657 | 3908 | 724 | 68273390 | 68273482 | 900 | 991 | 112 | 142 |
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 |
P27986 | 112 | 142 | 1 | 363 | Alternative sequence | ID=VSP_045903;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
P27986 | 112 | 142 | 1 | 363 | Alternative sequence | ID=VSP_045903;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
P27986 | 112 | 142 | 1 | 300 | Alternative sequence | ID=VSP_021841;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3 |
P27986 | 112 | 142 | 1 | 300 | Alternative sequence | ID=VSP_021841;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3 |
P27986 | 112 | 142 | 1 | 270 | Alternative sequence | ID=VSP_021842;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:8628286,ECO:0000303|Ref.5;Dbxref=PMID:15489334,PMID:8628286 |
P27986 | 112 | 142 | 1 | 270 | Alternative sequence | ID=VSP_021842;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:8628286,ECO:0000303|Ref.5;Dbxref=PMID:15489334,PMID:8628286 |
P27986 | 112 | 142 | 2 | 724 | Chain | ID=PRO_0000080758;Note=Phosphatidylinositol 3-kinase regulatory subunit alpha |
P27986 | 112 | 142 | 2 | 724 | Chain | ID=PRO_0000080758;Note=Phosphatidylinositol 3-kinase regulatory subunit alpha |
P27986 | 112 | 142 | 113 | 301 | Domain | Note=Rho-GAP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00172 |
P27986 | 112 | 142 | 113 | 301 | Domain | Note=Rho-GAP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00172 |
P27986 | 112 | 142 | 118 | 121 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1PBW |
P27986 | 112 | 142 | 118 | 121 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1PBW |
P27986 | 112 | 142 | 130 | 143 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1PBW |
P27986 | 112 | 142 | 130 | 143 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1PBW |
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 |
P27986 | 112 | 142 | 1 | 363 | Alternative sequence | ID=VSP_045903;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
P27986 | 112 | 142 | 1 | 363 | Alternative sequence | ID=VSP_045903;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
P27986 | 112 | 142 | 1 | 300 | Alternative sequence | ID=VSP_021841;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3 |
P27986 | 112 | 142 | 1 | 300 | Alternative sequence | ID=VSP_021841;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3 |
P27986 | 112 | 142 | 1 | 270 | Alternative sequence | ID=VSP_021842;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:8628286,ECO:0000303|Ref.5;Dbxref=PMID:15489334,PMID:8628286 |
P27986 | 112 | 142 | 1 | 270 | Alternative sequence | ID=VSP_021842;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:8628286,ECO:0000303|Ref.5;Dbxref=PMID:15489334,PMID:8628286 |
P27986 | 112 | 142 | 2 | 724 | Chain | ID=PRO_0000080758;Note=Phosphatidylinositol 3-kinase regulatory subunit alpha |
P27986 | 112 | 142 | 2 | 724 | Chain | ID=PRO_0000080758;Note=Phosphatidylinositol 3-kinase regulatory subunit alpha |
P27986 | 112 | 142 | 113 | 301 | Domain | Note=Rho-GAP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00172 |
P27986 | 112 | 142 | 113 | 301 | Domain | Note=Rho-GAP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00172 |
P27986 | 112 | 142 | 118 | 121 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1PBW |
P27986 | 112 | 142 | 118 | 121 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1PBW |
P27986 | 112 | 142 | 130 | 143 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1PBW |
P27986 | 112 | 142 | 130 | 143 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1PBW |
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3'-UTR located exon skipping events that lost miRNA binding sites in PIK3R1 |
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 PIK3R1 |
- 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 PIK3R1 |
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 PIK3R1 |
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 PIK3R1 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for PIK3R1 |
Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
P27986 | approved|investigational | DB01064 | Isoprenaline | small molecule | P27986 |
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RelatedDiseases for PIK3R1 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |