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Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
Gene Summary for PIK3R1 |
Basic gene info. | Gene symbol | PIK3R1 |
Gene name | phosphoinositide-3-kinase, regulatory subunit 1 (alpha) | |
Synonyms | AGM7|GRB1|IMD36|p85|p85-ALPHA | |
Cytomap | UCSC genome browser: 5q13.1 | |
Genomic location | chr5 :67586466-67597649 | |
Type of gene | protein-coding | |
RefGenes | NM_001242466.1, NM_181504.3,NM_181523.2,NM_181524.1, | |
Ensembl id | ENSG00000145675 | |
Description | PI3-kinase subunit p85-alphaPI3K regulatory subunit alphaphosphatidylinositol 3-kinase 85 kDa regulatory subunit alphaphosphatidylinositol 3-kinase regulatory subunit alphaphosphatidylinositol 3-kinase, regulatory subunit, polypeptide 1 (p85 alpha)ph | |
Modification date | 20141221 | |
dbXrefs | MIM : 171833 | |
HGNC : HGNC | ||
Ensembl : ENSG00000145675 | ||
HPRD : 01381 | ||
Vega : OTTHUMG00000131251 | ||
Protein | UniProt: P27986 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_PIK3R1 | |
BioGPS: 5295 | ||
Gene Expression Atlas: ENSG00000145675 | ||
The Human Protein Atlas: ENSG00000145675 | ||
Pathway | NCI Pathway Interaction Database: PIK3R1 | |
KEGG: PIK3R1 | ||
REACTOME: PIK3R1 | ||
ConsensusPathDB | ||
Pathway Commons: PIK3R1 | ||
Metabolism | MetaCyc: PIK3R1 | |
HUMANCyc: PIK3R1 | ||
Regulation | Ensembl's Regulation: ENSG00000145675 | |
miRBase: chr5 :67,586,466-67,597,649 | ||
TargetScan: NM_001242466 | ||
cisRED: ENSG00000145675 | ||
Context | iHOP: PIK3R1 | |
cancer metabolism search in PubMed: PIK3R1 | ||
UCL Cancer Institute: PIK3R1 | ||
Assigned class in ccmGDB | A - This gene has a literature evidence and it belongs to cancer gene. | |
References showing role of PIK3R1 in cancer cell metabolism | 1. Hellwinkel OJ, Rogmann JP, Asong LE, Luebke AM, Eichelberg C, et al. (2008) A comprehensive analysis of transcript signatures of the phosphatidylinositol‐3 kinase/protein kinase B signal‐transduction pathway in prostate cancer. BJU international 101: 1454-1460. go to article |
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Phenotypic Information for PIK3R1(metabolism pathway, cancer, disease, phenome) |
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Cancer | CGAP: PIK3R1 |
Familial Cancer Database: PIK3R1 |
* This gene is included in those cancer gene databases. |
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Oncogene 1 |
cf) number; DB name 1 Oncogene; http://nar.oxfordjournals.org/content/35/suppl_1/D721.long, 2 Tumor Suppressor gene; https://bioinfo.uth.edu/TSGene/, 3 Cancer Gene Census; http://www.nature.com/nrc/journal/v4/n3/abs/nrc1299.html, 4 CancerGenes; http://nar.oxfordjournals.org/content/35/suppl_1/D721.long, 5 Network of Cancer Gene; http://ncg.kcl.ac.uk/index.php, 6 http://www.nature.com/nature/journal/v490/n7418/full/nature11412.html, 7 http://www.sciencedirect.com/science/article/pii/S0092867413012087, 8 http://www.nature.com/nature/journal/v497/n7447/full/nature12113.html, 9 http://www.nejm.org/doi/full/10.1056/NEJMoa1402121, 10Therapeutic Vulnerabilities in Cancer; http://cbio.mskcc.org/cancergenomics/statius/ |
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KEGG_FC_GAMMA_R_MEDIATED_PHAGOCYTOSIS REACTOME_PHOSPHOLIPID_METABOLISM REACTOME_PI_METABOLISM REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS |
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OMIM | 171833; gene. 171833; gene. 269880; phenotype. 269880; phenotype. 615214; phenotype. 615214; phenotype. |
Orphanet | 3163; SHORT syndrome. 3163; SHORT syndrome. 33110; Autosomal agammaglobulinemia. 33110; Autosomal agammaglobulinemia. |
Disease | KEGG Disease: PIK3R1 |
MedGen: PIK3R1 (Human Medical Genetics with Condition) | |
ClinVar: PIK3R1 | |
Phenotype | MGI: PIK3R1 (International Mouse Phenotyping Consortium) |
PhenomicDB: PIK3R1 |
Mutations for PIK3R1 |
* Under tables are showing count per each tissue to give us broad intuition about tissue specific mutation patterns.You can go to the detailed page for each mutation database's web site. |
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- Statistics for Tissue and Mutation type | Top |
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- For Inter-chromosomal Variations |
* Inter-chromosomal variantions includes 'interchromosomal amplicon to amplicon', 'interchromosomal amplicon to non-amplified dna', 'interchromosomal insertion', 'Interchromosomal unknown type'. |
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- For Intra-chromosomal Variations |
* Intra-chromosomal variantions includes 'intrachromosomal amplicon to amplicon', 'intrachromosomal amplicon to non-amplified dna', 'intrachromosomal deletion', 'intrachromosomal fold-back inversion', 'intrachromosomal inversion', 'intrachromosomal tandem duplication', 'Intrachromosomal unknown type', 'intrachromosomal with inverted orientation', 'intrachromosomal with non-inverted orientation'. |
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Sample | Symbol_a | Chr_a | Start_a | End_a | Symbol_b | Chr_b | Start_b | End_b |
breast | PIK3R1 | chr5 | 67587611 | 67587611 | chr16 | 74740421 | 74740421 | |
central_nervous_system | PIK3R1 | chr5 | 67590608 | 67590608 | chr5 | 67465996 | 67465996 |
cf) Tissue number; Tissue name (1;Breast, 2;Central_nervous_system, 3;Haematopoietic_and_lymphoid_tissue, 4;Large_intestine, 5;Liver, 6;Lung, 7;Ovary, 8;Pancreas, 9;Prostate, 10;Skin, 11;Soft_tissue, 12;Upper_aerodigestive_tract) |
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* From mRNA Sanger sequences, Chitars2.0 arranged chimeric transcripts. This table shows PIK3R1 related fusion information. |
ID | Head Gene | Tail Gene | Accession | Gene_a | qStart_a | qEnd_a | Chromosome_a | tStart_a | tEnd_a | Gene_a | qStart_a | qEnd_a | Chromosome_a | tStart_a | tEnd_a |
BF849250 | LRCH1 | 6 | 162 | 13 | 47155365 | 47155523 | PIK3R1 | 144 | 440 | 5 | 67593268 | 67593562 | |
BX648791 | NFIA | 1 | 4560 | 1 | 61817423 | 61821979 | PIK3R1 | 4560 | 5386 | 5 | 67593366 | 67594192 | |
BU742563 | PIK3R1 | 8 | 278 | 5 | 67594299 | 67594570 | PIK3R1 | 272 | 651 | 5 | 67595900 | 67596280 |
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There's no copy number variation information in COSMIC data for this gene. |
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Stat. for Non-Synonymous SNVs (# total SNVs=251) | (# total SNVs=27) |
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(# total SNVs=97) | (# total SNVs=31) |
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* When you move the cursor on each content, you can see more deailed mutation information on the Tooltip. Those are primary_site,primary_histology,mutation(aa),pubmedID. |
GRCh37 position | Mutation(aa) | Unique sampleID count |
chr5:67588951-67588951 | p.R348* | 22 |
chr5:67589138-67589138 | p.G376R | 12 |
chr5:67591106-67591106 | p.K567E | 8 |
chr5:67591246-67591246 | p.? | 7 |
chr5:67591097-67591097 | p.N564D | 7 |
chr5:67591086-67591086 | p.D560G | 7 |
chr5:67592108-67592108 | p.R642* | 6 |
chr5:67591128-67591128 | p.R574I | 6 |
chr5:67591125-67591125 | p.L573P | 6 |
chr5:67589628-67589628 | p.D464G | 6 |
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Point Mutation/ Tissue ID | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13 | 14 | 15 | 16 | 17 | 18 | 19 | 20 |
# sample | 2 | 9 | 1 | 48 | 16 |   | 4 |   | 2 | 2 |   | 6 | 3 | 2 |   |   | 6 | 6 | 1 | 27 |
# mutation | 2 | 9 | 1 | 35 | 11 |   | 4 |   | 2 | 3 |   | 6 | 3 | 2 |   |   | 6 | 6 | 1 | 28 |
nonsynonymous SNV | 2 | 8 | 1 | 24 | 10 |   | 4 |   | 2 | 1 |   | 2 | 2 | 1 |   |   | 2 | 6 | 1 | 25 |
synonymous SNV |   | 1 |   | 11 | 1 |   |   |   |   | 2 |   | 4 | 1 | 1 |   |   | 4 |   |   | 3 |
cf) Tissue ID; Tissue type (1; BLCA[Bladder Urothelial Carcinoma], 2; BRCA[Breast invasive carcinoma], 3; CESC[Cervical squamous cell carcinoma and endocervical adenocarcinoma], 4; COAD[Colon adenocarcinoma], 5; GBM[Glioblastoma multiforme], 6; Glioma Low Grade, 7; HNSC[Head and Neck squamous cell carcinoma], 8; KICH[Kidney Chromophobe], 9; KIRC[Kidney renal clear cell carcinoma], 10; KIRP[Kidney renal papillary cell carcinoma], 11; LAML[Acute Myeloid Leukemia], 12; LUAD[Lung adenocarcinoma], 13; LUSC[Lung squamous cell carcinoma], 14; OV[Ovarian serous cystadenocarcinoma ], 15; PAAD[Pancreatic adenocarcinoma], 16; PRAD[Prostate adenocarcinoma], 17; SKCM[Skin Cutaneous Melanoma], 18:STAD[Stomach adenocarcinoma], 19:THCA[Thyroid carcinoma], 20:UCEC[Uterine Corpus Endometrial Carcinoma]) |
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* We represented just top 10 SNVs. When you move the cursor on each content, you can see more deailed mutation information on the Tooltip. Those are primary_site, primary_histology, mutation(aa), pubmedID. |
Genomic Position | Mutation(aa) | Unique sampleID count |
chr5:67589138 | p.G13R,PIK3R1 | 8 |
chr5:67589628 | p.D101G,PIK3R1 | 7 |
chr5:67591097 | p.N201D,PIK3R1 | 7 |
chr5:67591086 | p.D197G,PIK3R1 | 5 |
chr5:67591106 | p.L210P,PIK3R1 | 3 |
chr5:67590446 | p.R211G,PIK3R1 | 3 |
chr5:67591125 | p.R140L,PIK3R1 | 3 |
chr5:67591127 | p.K204E,PIK3R1 | 3 |
chr5:67589627 | p.K96E,PIK3R1 | 2 |
chr5:67591034 | p.K96K,PIK3R1 | 2 |
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* Copy number data were extracted from TCGA using R package TCGA-Assembler. The URLs of all public data files on TCGA DCC data server were gathered on Jan-05-2015. Function ProcessCNAData in TCGA-Assembler package was used to obtain gene-level copy number value which is calculated as the average copy number of the genomic region of a gene. |
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cf) Tissue ID[Tissue type]: BLCA[Bladder Urothelial Carcinoma], BRCA[Breast invasive carcinoma], CESC[Cervical squamous cell carcinoma and endocervical adenocarcinoma], COAD[Colon adenocarcinoma], GBM[Glioblastoma multiforme], Glioma Low Grade, HNSC[Head and Neck squamous cell carcinoma], KICH[Kidney Chromophobe], KIRC[Kidney renal clear cell carcinoma], KIRP[Kidney renal papillary cell carcinoma], LAML[Acute Myeloid Leukemia], LUAD[Lung adenocarcinoma], LUSC[Lung squamous cell carcinoma], OV[Ovarian serous cystadenocarcinoma ], PAAD[Pancreatic adenocarcinoma], PRAD[Prostate adenocarcinoma], SKCM[Skin Cutaneous Melanoma], STAD[Stomach adenocarcinoma], THCA[Thyroid carcinoma], UCEC[Uterine Corpus Endometrial Carcinoma] |
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Gene Expression for PIK3R1 |
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* CCLE gene expression data were extracted from CCLE_Expression_Entrez_2012-10-18.res: Gene-centric RMA-normalized mRNA expression data. |
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* Normalized gene expression data of RNASeqV2 was extracted from TCGA using R package TCGA-Assembler. The URLs of all public data files on TCGA DCC data server were gathered at Jan-05-2015. Only eight cancer types have enough normal control samples for differential expression analysis. (t test, adjusted p<0.05 (using Benjamini-Hochberg FDR)) |
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* This plots show the correlation between CNV and gene expression. |
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Gene-Gene Network Information |
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* Co-Expression network figures were drawn using R package igraph. Only the top 20 genes with the highest correlations were shown. Red circle: input gene, orange circle: cell metabolism gene, sky circle: other gene |
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ARID5B,ARRDC3,ATF7,MIR99AHG,DST,FRMD4B,IQGAP2, MTUS1,NUMB,PDZD2,PIK3R1,PJA2,PRDM2,RBMS3, RFX7,SH3RF2,SP1,TLR3,TSHZ2,UTRN,YAP1 | EPC2,FAM13B,FNBP1L,HPS5,GLTSCR1L,KANSL1,MAML2, OGFRL1,PIK3R1,PLCB1,PUM1,RNF169,THUMPD1,TUG1, ZNF136,ZNF197,ZNF268,ZNF430,ZNF677,ZNF84,ZZZ3 | ||||
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ARL15,ATAD2B,DNMT3A,FOXO3B,GDF10,GOLIM4,KCTD16, KRT32,KRT38,MYL3,MYO10,NAV2,NCKAP5,NRXN3, OLFML3,PHYHIPL,PIK3R1,PRSS23,STK38L,TP53BP1,UGT2A3 | AP3B2,ATP2B3,ATXN1,CDH2,CNR1,CRMP1,DNAJC6, DPYSL5,EZH1,GFRA1,LGI3,LIFR,NCAM2,PCDHA3, JADE1,PIK3R1,PJA2,RBPJ,RNF38,SEZ6L,WDR47 |
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* Co-Expression network figures were drawn using R package igraph. Only the top 20 genes with the highest correlations were shown. Red circle: input gene, orange circle: cell metabolism gene, sky circle: other gene |
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Pharmacological Information for PIK3R1 |
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DB Category | DB Name | DB's ID and Url link |
Chemistry | BindingDB | P27986; -. |
Chemistry | ChEMBL | CHEMBL2111367; -. |
Chemistry | BindingDB | P27986; -. |
Chemistry | ChEMBL | CHEMBL2111367; -. |
Organism-specific databases | PharmGKB | PA33312; -. |
Organism-specific databases | PharmGKB | PA33312; -. |
Organism-specific databases | CTD | 5295; -. |
Organism-specific databases | CTD | 5295; -. |
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* Gene Centered Interaction Network. |
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* Drug Centered Interaction Network. |
DrugBank ID | Target Name | Drug Groups | Generic Name | Drug Centered Network | Drug Structure |
DB01064 | phosphoinositide-3-kinase, regulatory subunit 1 (alpha) | approved | Isoproterenol | ![]() | ![]() |
DB08059 | phosphoinositide-3-kinase, regulatory subunit 1 (alpha) | experimental | (1S,6BR,9AS,11R,11BR)-9A,11B-DIMETHYL-1-[(METHYLOXY)METHYL]-3,6,9-TRIOXO-1,6,6B,7,8,9,9A,10,11,11B-DECAHYDRO-3H-FURO[4,3,2-DE]INDENO[4,5-H][2]BENZOPYRAN-11-YL ACETATE | ![]() | ![]() |
DB00171 | phosphoinositide-3-kinase, regulatory subunit 1 (alpha) | approved; nutraceutical | Adenosine triphosphate | ![]() | ![]() |
DB00877 | phosphoinositide-3-kinase, regulatory subunit 1 (alpha) | approved; investigational | Sirolimus | ![]() | ![]() |
DB00122 | phosphoinositide-3-kinase, regulatory subunit 1 (alpha) | approved; nutraceutical | Choline | ![]() | ![]() |
DB00394 | phosphoinositide-3-kinase, regulatory subunit 1 (alpha) | approved | Beclomethasone | ![]() | ![]() |
DB00443 | phosphoinositide-3-kinase, regulatory subunit 1 (alpha) | approved | Betamethasone | ![]() | ![]() |
DB01222 | phosphoinositide-3-kinase, regulatory subunit 1 (alpha) | approved; investigational | Budesonide | ![]() | ![]() |
DB01410 | phosphoinositide-3-kinase, regulatory subunit 1 (alpha) | approved; investigational | Ciclesonide | ![]() | ![]() |
DB01260 | phosphoinositide-3-kinase, regulatory subunit 1 (alpha) | approved; investigational | Desonide | ![]() | ![]() |
DB01234 | phosphoinositide-3-kinase, regulatory subunit 1 (alpha) | approved; investigational | Dexamethasone | ![]() | ![]() |
DB00180 | phosphoinositide-3-kinase, regulatory subunit 1 (alpha) | approved; investigational | Flunisolide | ![]() | ![]() |
DB00588 | phosphoinositide-3-kinase, regulatory subunit 1 (alpha) | approved; investigational | Fluticasone Propionate | ![]() | ![]() |
DB00741 | phosphoinositide-3-kinase, regulatory subunit 1 (alpha) | approved | Hydrocortisone | ![]() | ![]() |
DB00959 | phosphoinositide-3-kinase, regulatory subunit 1 (alpha) | approved | Methylprednisolone | ![]() | ![]() |
DB00764 | phosphoinositide-3-kinase, regulatory subunit 1 (alpha) | approved | Mometasone | ![]() | ![]() |
DB01384 | phosphoinositide-3-kinase, regulatory subunit 1 (alpha) | approved | Paramethasone | ![]() | ![]() |
DB00860 | phosphoinositide-3-kinase, regulatory subunit 1 (alpha) | approved | Prednisolone | ![]() | ![]() |
DB00635 | phosphoinositide-3-kinase, regulatory subunit 1 (alpha) | approved | Prednisone | ![]() | ![]() |
DB00896 | phosphoinositide-3-kinase, regulatory subunit 1 (alpha) | approved | Rimexolone | ![]() | ![]() |
DB00620 | phosphoinositide-3-kinase, regulatory subunit 1 (alpha) | approved | Triamcinolone | ![]() | ![]() |
DB00131 | phosphoinositide-3-kinase, regulatory subunit 1 (alpha) | approved; nutraceutical | Adenosine monophosphate | ![]() | ![]() |
DB00125 | phosphoinositide-3-kinase, regulatory subunit 1 (alpha) | approved; nutraceutical | L-Arginine | ![]() | ![]() |
DB00155 | phosphoinositide-3-kinase, regulatory subunit 1 (alpha) | approved; nutraceutical | L-Citrulline | ![]() | ![]() |
DB00435 | phosphoinositide-3-kinase, regulatory subunit 1 (alpha) | approved | Nitric Oxide | ![]() | ![]() |
DB00864 | phosphoinositide-3-kinase, regulatory subunit 1 (alpha) | approved; investigational | Tacrolimus | ![]() | ![]() |
DB00619 | phosphoinositide-3-kinase, regulatory subunit 1 (alpha) | approved | Imatinib | ![]() | ![]() |
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Cross referenced IDs for PIK3R1 |
* We obtained these cross-references from Uniprot database. It covers 150 different DBs, 18 categories. http://www.uniprot.org/help/cross_references_section |
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