mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for PIK3CA
Gene summary
Basic gene Info.Gene symbolPIK3CA
Gene namephosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
SynonymsCLOVE|CWS5|MCAP|MCM|MCMTC|PI3K|p110-alpha
CytomapUCSC genome browser: 3q26.3
Type of geneprotein-coding
RefGenesNM_006218.2,
DescriptionPI3-kinase p110 subunit alphaPI3K-alphaphosphatidylinositol 3-kinase, catalytic, 110-KD, alphaphosphatidylinositol 3-kinase, catalytic, alpha polypeptidephosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoformphosphatidylinosito
Modification date20141222
dbXrefs MIM : 171834
HGNC : HGNC
HPRD : 01382
ProteinUniProt: P42336
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_PIK3CA
BioGPS: 5290
PathwayNCI Pathway Interaction Database: PIK3CA
KEGG: PIK3CA
REACTOME: PIK3CA
Pathway Commons: PIK3CA
ContextiHOP: PIK3CA
ligand binding site mutation search in PubMed: PIK3CA
UCL Cancer Institute: PIK3CA
Assigned class in mutLBSgeneDBA: This gene has a literature evidence and it belongs to targetable_mutLBSgenes.
References showing study about ligand binding site mutation for PIK3CA.1. Karakas, B., Bachman, K. E., & Park, B. H. (2006). Mutation of the PIK3CA oncogene in human cancers. British journal of cancer, 94(4), 455-459. 16449998

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID


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Ligand binding site mutations for PIK3CA

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
K776,P778R777MCOAD1
I800I800VCOAD1
G12I13TCOAD1
P17P17LCOAD1
I800I800TCOAD1
W328W328SHNSC1
G12W11LLUAD1
H495H495LLUSC1
K776,P778R777KSKCM1
S774,M772S773FSKCM1
R577S576YUCEC1
G12G12DUCEC1
H495H495YUCEC1
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.


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Protein structure related information for PIK3CA
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

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.
LBSAAchange of nsSNVRelative stability change
G12W11L0.10776896
I800I800T-1.6323365
I800I800V-1.4818308
W328W328S-1.4761797
G12I13T-1.3163049
P17P17L-0.7194017
H495H495Y-0.6016766
G12G12D-0.55995745
P778R777K-0.54591938
K776R777K-0.54591938
R577S576Y-0.32672712
H495H495L-0.25775079
K776R777M-0.19300559
P778R777M-0.19300559
M772S773F-0.14086995
S774S773F-0.14086995
(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 PIK3CA from PDB

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Differential gene expression and gene-gene network for PIK3CA
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)
* Left PPI network was created from samples with mutations in the LBS of PIK3CA and the right PPI network was created from samples without mutations in the LBS of PIK3CA. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


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Phenotype information for PIK3CA
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0006142Malignant neoplasm breast190Biomarker, GeneticVariation
umls:C1527249Colorectal Cancer98Biomarker, GeneticVariation
umls:C1140680Malignant neoplasm of ovary53Biomarker, GeneticVariation
umls:C0007131Carcinoma, Non-Small-Cell Lung53Biomarker, GeneticVariation
umls:C2239176Carcinoma, Hepatocellular49Biomarker, GeneticVariation
umls:C1458155Breast Neoplasms44AlteredExpression, Biomarker, GeneticVariation
umls:C0007137Carcinoma, Squamous Cell36AlteredExpression, Biomarker, GeneticVariation
umls:C0001418Adenocarcinoma22Biomarker, GeneticVariation
umls:C0007134Carcinoma, Renal Cell15Biomarker
umls:C2931822Nasopharyngeal carcinoma15Biomarker
umls:C0677886Ovarian epithelial cancer13Biomarker, GeneticVariation
umls:C0079744Lymphoma, Large B-Cell, Diffuse9Biomarker
umls:C0009404Colorectal Neoplasms8Biomarker, GeneticVariation
umls:C0024121Lung Neoplasms7Biomarker, GeneticVariation
umls:C0033578Prostatic Neoplasms7Biomarker
umls:C0919267Ovarian Neoplasms7AlteredExpression, Biomarker, GeneticVariation
umls:C0022603Keratosis, Seborrheic5Biomarker, GeneticVariation
umls:C0038356Stomach Neoplasms5AlteredExpression, Biomarker, GeneticVariation
umls:C1261473Sarcoma4Biomarker
umls:C0279628Adenocarcinoma Of Esophagus3Biomarker
umls:C0152013Adenocarcinoma of lung3Biomarker
umls:C0334082Epidermal Nevus3Biomarker, GeneticVariation
umls:C0026640Mouth Neoplasms2Biomarker, GeneticVariation
umls:C0017661Glomerulonephritis, IGA2Biomarker
umls:C1863924Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome2Biomarker
umls:C2752042Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi1Biomarker, GeneticVariation
umls:C0010606Carcinoma, Adenoid Cystic1Biomarker
umls:C0018273Growth Disorders1Biomarker
umls:C0020507Hyperplasia1Biomarker
umls:C1955869Malformations of Cortical Development1Biomarker
umls:C0030849Penile Neoplasms1Biomarker
umls:C0043094Weight Gain1Biomarker

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

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Pharmacological information for PIK3CA
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.

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
ApprovedDB00201CaffeineSmall molecule
InvestigationalDB05240XL147Small molecule
InvestigationalDB05241XL765Small molecule
ExperimentalDB08059(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 ACETATESmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of PIK3CA go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
PBU(2R)-3-{[(R)-HYDROXY{[(1R,2R,3S,4R,5R,6S)-2,3,6-TRIHYDROXY-4,5-BIS(PHOSPHONOOXY)CYCLOHEXYL]OXY}PHOSPHORYL]OXY}PROPANE-1,2-DIYLDIBUTANOATE4ovvAG12 P17
X6KPI-1034l23AM772
KKR1-[4-[[2-(1H-INDAZOL-4-YL)-4- MORPHOLINTHIENO[3,2-D]PYRIMIDIN-6-YL]METHYL]PIPERAZIN- 6-METHYL-HEPT-5-ENE-1,4-DIONE1-[4-[[2-(1H-INDAZOL-4-YL)-4-MORPHOLIN-4-YL- THIENO[3,2-D]PYRIMIDIN-6-YL]METHYL]PIPERAZIN- 1-YL]-6-METHYL-HEPT-5-ENE-1,4-DIONE3zimAM772 I800
XXK3-AMINO-5-[4-(MORPHOLIN-4-YL)PYRIDO[3',2':4,5]FURO[3,2- D]PYRIMIDIN-2-YL]PHENOL4l2yAM772 I800
1LT(2S)-N~1~-{4-METHYL-5-[2-(1,1,1-TRIFLUORO-2- METHYLPROPAN-2-YL)PYRIDIN-4-YL]-1,3-THIAZOL-2- YL}PYRROLIDINE-1,2-DICARBOXAMIDE4jpsAM772 I800
ML92-AMINO-8-[TRANS-4-(2-HYDROXYETHOXY)CYCLOHEXYL]-6-(6-METHOXYPYRIDIN-3-YL)-4-METHYLPYRIDO[2,3-D]PYRIMIDIN-7(8H)-ONE4tv3AM772 I800
KWTWORTMANNIN3hhmAM772 K776 P778 I800


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Conservation information for LBS of PIK3CA
Multiple alignments for P42336 in multiple species
LBSAA sequence# speciesSpecies
C862IMQIQCKGGL-3Homo sapiens, Mus musculus, Bos taurus
C862IFEIQVGTGFM1Caenorhabditis elegans
D810DDLRQDMLTLQ3Homo sapiens, Mus musculus, Bos taurus
D810DDLRQDMLVLQ1Caenorhabditis elegans
D933QLFHIDFGHFL3Homo sapiens, Mus musculus, Bos taurus
D933KYFHIDFGHIL1Caenorhabditis elegans
E494--VIEEHANWS3Homo sapiens, Mus musculus, Bos taurus
E494TYLVKHRSTWT1Caenorhabditis elegans
E722DILKQEKKDET3Homo sapiens, Mus musculus, Bos taurus
E722TLVKGMPKD--1Caenorhabditis elegans
E849CVGLIEVVRNS3Homo sapiens, Mus musculus, Bos taurus
E849MIGIIEVVPNC1Caenorhabditis elegans
G12SGELWGIHLMP3Homo sapiens, Mus musculus, Bos taurus
G12MVEQWQMRERP1Caenorhabditis elegans
H495-VIEEHANWSV3Homo sapiens, Mus musculus, Bos taurus
H495YLVKHRSTWTE1Caenorhabditis elegans
H855VVRNSHTIMQI3Homo sapiens, Mus musculus, Bos taurus
H855VVPNCKTIFEI1Caenorhabditis elegans
I330-SLWVINSALR3Homo sapiens, Mus musculus, Bos taurus
I330VSLWDLDANLM1Caenorhabditis elegans
I800QNNEIIFKNGD3Homo sapiens, Mus musculus, Bos taurus
I800PFCAMIFKNGD1Caenorhabditis elegans
I848DCVGLIEVVRN3Homo sapiens, Mus musculus, Bos taurus
I848EMIGIIEVVPN1Caenorhabditis elegans
I932GQLFHIDFGHF3Homo sapiens, Mus musculus, Bos taurus
I932GKYFHIDFGHI1Caenorhabditis elegans
K776IMSSAKRPLWL3Homo sapiens, Mus musculus, Bos taurus
K776VLGSAKRPLML1Caenorhabditis elegans
K802NEIIFKNGDDL3Homo sapiens, Mus musculus, Bos taurus
K802CAMIFKNGDDL1Caenorhabditis elegans
L807KNGDDLRQDML4Homo sapiens, Caenorhabditis elegans, Mus musculus, Bos taurus
M772EECRIMSSAKR3Homo sapiens, Mus musculus, Bos taurus
M772DKAIVLGSAKR1Caenorhabditis elegans
M858NSHTIMQIQCK3Homo sapiens, Mus musculus, Bos taurus
M858NCKTIFEIQVG1Caenorhabditis elegans
M922HNSNIMVKDDG3Homo sapiens, Mus musculus, Bos taurus
M922HSDNLMLTEDG1Caenorhabditis elegans
P17GIHLMPP----3Homo sapiens, Mus musculus, Bos taurus
P17QMRERPSLETE1Caenorhabditis elegans
P394YDIYIPDLPRA3Homo sapiens, Mus musculus, Bos taurus
P394FDLYMKDMPPS1Caenorhabditis elegans
P778SSAKRPLWLNW3Homo sapiens, Mus musculus, Bos taurus
P778GSAKRPLMLHW1Caenorhabditis elegans
Q859SHTIMQIQCKG3Homo sapiens, Mus musculus, Bos taurus
Q859CKTIFEIQVGT1Caenorhabditis elegans
R577VKWNSRDEVAQ3Homo sapiens, Mus musculus, Bos taurus
R577FVWTDRENFSE1Caenorhabditis elegans
R770RLEECRIMSSA3Homo sapiens, Mus musculus, Bos taurus
R770IIDKAIVLGSA1Caenorhabditis elegans
S774CRIMSSAKRPL3Homo sapiens, Mus musculus, Bos taurus
S774AIVLGSAKRPL1Caenorhabditis elegans
S854EVVRNSHTIMQ3Homo sapiens, Mus musculus, Bos taurus
S854EVVPNCKTIFE1Caenorhabditis elegans
S919GDRHNSNIMVK3Homo sapiens, Mus musculus, Bos taurus
S919KDRHSDNLMLT1Caenorhabditis elegans
V329--SLWVINSAL3Homo sapiens, Mus musculus, Bos taurus
V329QVSLWDLDANL1Caenorhabditis elegans
V850VGLIEVVRNSH3Homo sapiens, Mus musculus, Bos taurus
V850IGIIEVVPNCK1Caenorhabditis elegans
V851GLIEVVRNSHT3Homo sapiens, Mus musculus, Bos taurus
V851GIIEVVPNCKT1Caenorhabditis elegans
W328K--SLWVINSA3Homo sapiens, Mus musculus, Bos taurus
W328KQVSLWDLDAN1Caenorhabditis elegans
W498EEHANWSVSRE3Homo sapiens, Mus musculus, Bos taurus
W498KHRSTWTET--1Caenorhabditis elegans
W780AKRPLWLNWEN3Homo sapiens, Mus musculus, Bos taurus
W780AKRPLMLHWKN1Caenorhabditis elegans
Y392LNYDIYIPDLP3Homo sapiens, Mus musculus, Bos taurus
Y392YTFDLYMKDMP1Caenorhabditis elegans
Y836LRMLPYGCLSI3Homo sapiens, Mus musculus, Bos taurus
Y836CCLNPYAVLPM1Caenorhabditis elegans


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