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mutLBSgeneDB |
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| Gene summary for PIK3R1 |
 Gene summary |
| 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 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001242466.1, NM_181504.3,NM_181523.2,NM_181524.1, | |
| 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 | ||
| Pathway | NCI Pathway Interaction Database: PIK3R1 | |
| KEGG: PIK3R1 | ||
| REACTOME: PIK3R1 | ||
| Pathway Commons: PIK3R1 | ||
| Context | iHOP: PIK3R1 | |
| ligand binding site mutation search in PubMed: PIK3R1 | ||
| UCL Cancer Institute: PIK3R1 | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0014065 | phosphatidylinositol 3-kinase signaling | 7782332 | GO:0034976 | response to endoplasmic reticulum stress | 20348923 | GO:0042993 | positive regulation of transcription factor import into nucleus | 20348923 | GO:0048009 | insulin-like growth factor receptor signaling pathway | 7782332 | GO:0050821 | protein stabilization | 20348923 | GO:0060396 | growth hormone receptor signaling pathway | 7782332 |
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| Ligand binding site mutations for PIK3R1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | N377 | G376R | GBM | 4 | R649 | R649Q | COAD | 2 | K379 | K379N | GBM | 2 | C670 | C670Y | BLCA | 1 | N377 | G376R | COAD | 1 | K668 | E666D | COAD | 1 | A682 | E683K | COAD | 1 | K379 | K379E | GBM | 1 | A682 | P684S | STAD | 1 | N377 | G376R | STAD | 1 | R649 | R649W | UCEC | 1 | Q705 | Q705R | UCEC | 1 |
| cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, 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. |
| Clinical information for PIK3R1 from My Cancer Genome. |
| Phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1) is gene that encodes a regulatory protein subunit of the same name that functions in the phosphorylation of inositol rings. Missense mutations, nonsense mutations, silent mutations, frameshift deletions and insertions, and in-frame deletions and insertions are observed in cancers such as endometrial cancer, intestinal cancer, and skin cancer. Related Pathways: PI3K/AKT1/MTOR.Modified: December 4, 2015 |
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| Protein structure related information for PIK3R1 |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
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| nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
| LBS | AAchange of nsSNV | Relative stability change | K668 | E666D | -1.3870593 | A682 | P684S | -1.3862771 | A682 | E683K | -1.0657927 | C670 | C670Y | -0.89331787 | K379 | K379N | -0.88433669 | Q705 | Q705R | -0.82787297 | N377 | G376R | -0.62484567 | R649 | R649Q | -0.59953589 | K379 | K379E | -0.41980053 | R649 | R649W | -0.27844326 |
| (MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
| Structure image for PIK3R1 from PDB |
| PDB ID | PDB title | PDB structure | 1H9O | PHOSPHATIDYLINOSITOL 3-KINASE, P85-ALPHA SUBUNIT: C-TERMINAL SH2 DOMAIN COMPLEXED WITH A TYR751 PHOSPHOPEPTIDE FROM THE PDGF RECEPTOR, CRYSTAL STRUCTURE AT 1.79 A |  |
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| Differential gene expression and gene-gene network for PIK3R1 |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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| Phenotype information for PIK3R1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0878684 | SHORT syndrome | 4 | Biomarker, GeneticVariation |
| umls:C0021655 | Insulin Resistance | 3 | Biomarker, GeneticVariation |
| umls:C0006413 | Burkitt Lymphoma | 1 | Biomarker |
| umls:C0007097 | Carcinoma | 1 | Biomarker |
| umls:C0024667 | Mammary Neoplasms, Animal | 1 | Biomarker |
| umls:C0024668 | Mammary Neoplasms, Experimental | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
| 75301 | R649W | Pathogenic | Germline;unknown | GeneReviews:NBK201365 MedGen:C0878684 OMIM:269880 Orphanet:ORPHA3163 |
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| Pharmacological information for PIK3R1 |
| Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Approved | DB01064 | Isoprenaline | Small molecule |  |
| Investigational | DB05210 | SF1126 | Small molecule |  |
| Experimental | DB08059 | (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 | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of PIK3R1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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| Conservation information for LBS of PIK3R1 |
| Multiple alignments for P27986 in multiple species |
| LBS | AA sequence | # species | Species | A360 | FLVRDASTKMH | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | A658 | KQGCYACSVVV | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | A682 | TGYGFAEPYNL | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | C670 | GEVKHCVINKT | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | D21 | KEREEDIDLHL | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | D394 | KYGFSDPLTFN | 3 | Bos taurus, Mus musculus, Rattus norvegicus | D394 | KYGFSDPLTFS | 1 | Homo sapiens | F392 | DGKYGFSDPLT | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | F681 | ATGYGFAEPYN | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | G54 | RPEDIGWLNGY | 2 | Mus musculus, Rattus norvegicus | G54 | RPEEIGWLNGY | 1 | Homo sapiens | G54 | KPEEIGWLNGY | 1 | Bos taurus | H669 | DGEVKHCVINK | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | H706 | TSLVQHNDSLN | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | I381 | GNNKLIKIFHR | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | K379 | KGGNNKLIKIF | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | K382 | NNKLIKIFHRD | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | K419 | AQYNPKLDVKL | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | K653 | VRESSKQGCYA | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | K668 | VDGEVKHCVIN | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | L380 | GGNNKLIKIFH | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | L420 | QYNPKLDVKLL | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | L703 | YQHTSLVQHND | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | L710 | QHNDSLNVTLA | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | N344 | SREEVNEKLRD | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | N377 | LRKGGNNKLIK | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | N378 | RKGGNNKLIKI | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | N417 | SLAQYNPKLDV | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | N707 | SLVQHNDSLNV | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | P395 | YGFSDPLTFNS | 3 | Bos taurus, Mus musculus, Rattus norvegicus | P395 | YGFSDPLTFSS | 1 | Homo sapiens | P70 | ERGDFPGTYVE | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | Q415 | NESLAQYNPKL | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | Q705 | HTSLVQHNDSL | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | R18 | DYKKEREEDID | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | R340 | WGDISREEVNE | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | R358 | GTFLVRDASTK | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | R631 | VGSSNRNKAEN | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | R649 | GTFLVRESSKQ | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | S361 | LVRDASTKMHG | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | S393 | GKYGFSDPLTF | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | S651 | FLVRESSKQGC | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | S652 | LVRESSKQGCY | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | S702 | HYQHTSLVQHN | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | T369 | MHGDYTLTLRK | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | T701 | LHYQHTSLVQH | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | T72 | GDFPGTYVEYI | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | V671 | EVKHCVINKTA | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | V704 | QHTSLVQHNDS | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | W55 | PEEIGWLNGYN | 2 | Homo sapiens, Bos taurus | W55 | PEDIGWLNGYN | 2 | Mus musculus, Rattus norvegicus | Y12 | QYRALYDYKKE | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | Y416 | ESLAQYNPKLD | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | Y698 | ELVLHYQHTSL | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | Y73 | DFPGTYVEYIG | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus |
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