mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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Bioinformatics and Systems Medicine Laboratory Bioinformatics and Systems Medicine Laboratory

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 PLEK
Gene summary
Basic gene Info.Gene symbolPLEK
Gene namepleckstrin
SynonymsP47
CytomapUCSC genome browser: 2p13.3
Type of geneprotein-coding
RefGenesNM_002664.2,
Descriptionplatelet 47 kDa protein
Modification date20141207
dbXrefs MIM : 173570
HGNC : HGNC
Ensembl : ENSG00000115956
HPRD : 15935
Vega : OTTHUMG00000129562
ProteinUniProt: P08567
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_PLEK
BioGPS: 5341
PathwayNCI Pathway Interaction Database: PLEK
KEGG: PLEK
REACTOME: PLEK
Pathway Commons: PLEK
ContextiHOP: PLEK
ligand binding site mutation search in PubMed: PLEK
UCL Cancer Institute: PLEK
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0007229integrin-mediated signaling pathway10995449
GO:0010920negative regulation of inositol phosphate biosynthetic process7559487
GO:0010925positive regulation of inositol-polyphosphate 5-phosphatase activity8999861
GO:0030030cell projection organization9060471
GO:0030836positive regulation of actin filament depolymerization10497244
GO:0030845phospholipase C-inhibiting G-protein coupled receptor signaling pathway7782310
GO:0030866cortical actin cytoskeleton organization10497244
GO:0031529ruffle organization10497244
GO:0031532actin cytoskeleton reorganization10497244
GO:0032233positive regulation of actin filament bundle assembly10497244
GO:0045744negative regulation of G-protein coupled receptor protein signaling pathway7782310
GO:0046488phosphatidylinositol metabolic process7559487
GO:0060305regulation of cell diameter10995449
GO:0070493thrombin receptor signaling pathway7782310


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Ligand binding site mutations for PLEK
Lollipop-style diagram of mutations at LBS in amino-acid sequence.
We represented ligand binding site mutations only. (You can see big image via clicking.)
 : non-synonymous mutation on LBS, Circle size denotes number of samples.

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
L287P286SCOAD1
R264K265TCOAD1
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 PLEK
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
L287P286S-1.1184476
R264K265T-0.43725681
(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 PLEK from PDB

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Differential gene expression and gene-gene network for PLEK
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 PLEK and the right PPI network was created from samples without mutations in the LBS of PLEK. 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 PLEK
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0003873Arthritis, Rheumatoid1Biomarker
umls:C0017661Glomerulonephritis, IGA1Biomarker
umls:C0029456Osteoporosis1Biomarker

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

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Pharmacological information for PLEK
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.
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of PLEK go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
IP51D-MYO-INOSITOL 1,2,3,4,5-PENTAKISPHOSPHATE2i5cAR264
5IPD-MYO-INS(1,2,3,5,6)P52i5fAR264
IP51D-MYO-INOSITOL 1,2,3,4,5-PENTAKISPHOSPHATE2i5cBR264 L287
IP51D-MYO-INOSITOL 1,2,3,4,5-PENTAKISPHOSPHATE2i5cCR264 L287


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Conservation information for LBS of PLEK
Multiple alignments for P08567 in multiple species
LBSAA sequence# speciesSpecies
G255CLLKQGHRRKN4Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris
H256LLKQGHRRKNW4Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris
K253QGCLLKQGHRR4Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris
L287GAEDPLGAIHL1Homo sapiens
L287GGEDPLGAVHL1Mus musculus
L287GGEDPLGAIHL1Rattus norvegicus
L287GGEEPLGAIHL1Canis lupus familiaris
R257LKQGHRRKNWK4Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris
R258KQGHRRKNWKV4Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris
R264KNWKVRKFILR4Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris
Y277PAYLHYYDP-A3Homo sapiens, Mus musculus, Rattus norvegicus
Y277PAYLHYYDPAA1Canis lupus familiaris


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