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 FKBP3
Gene summary
Basic gene Info.Gene symbolFKBP3
Gene nameFK506 binding protein 3, 25kDa
SynonymsFKBP-25|FKBP-3|FKBP25|PPIase
CytomapUCSC genome browser: 14q21.2
Type of geneprotein-coding
RefGenesNM_002013.3,
Description25 kDa FK506-binding protein25 kDa FKBPFK506-binding protein 25, T-cellFK506-binding protein 3 (25kD)PPIase FKBP3immunophilin FKBP25peptidyl-prolyl cis-trans isomerase FKBP3rapamycin binding proteinrapamycin-selective 25 kDa immunophilinrotamase
Modification date20141207
dbXrefs MIM : 186947
HGNC : HGNC
Ensembl : ENSG00000100442
HPRD : 01743
ProteinUniProt: Q00688
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_FKBP3
BioGPS: 2287
PathwayNCI Pathway Interaction Database: FKBP3
KEGG: FKBP3
REACTOME: FKBP3
Pathway Commons: FKBP3
ContextiHOP: FKBP3
ligand binding site mutation search in PubMed: FKBP3
UCL Cancer Institute: FKBP3
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


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Ligand binding site mutations for FKBP3
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
L162K160RCOAD1
Y198G199RGBM1
G169G167AHNSC1
W175E177KLUSC1
D146T147ASTAD1
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 FKBP3
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
D146T147A-0.98226029
G169G167A-0.74559131
L162K160R-0.71511164
W175E177K-0.22503658
Y198G199R-0.16138399
(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 FKBP3 from PDB

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Differential gene expression and gene-gene network for FKBP3
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 FKBP3 and the right PPI network was created from samples without mutations in the LBS of FKBP3. 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 FKBP3
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

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

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Pharmacological information for FKBP3
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 FKBP3 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
RAPRAPAMYCIN IMMUNOSUPPRESSANT DRUG1pbkAD146 L162 G169 W175 Y198


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Conservation information for LBS of FKBP3
Multiple alignments for Q00688 in multiple species
LBSAA sequence# speciesSpecies
D146DGTVFDTNIQT3Homo sapiens, Mus musculus, Bos taurus
F145QDGTVFDTNIQ2Homo sapiens, Bos taurus
F145PDGTVFDTNIQ1Mus musculus
G169FKVGVGKVIRG2Homo sapiens, Mus musculus
G169FKVGIGKVIRG1Bos taurus
I172GVGKVIRGWDE2Homo sapiens, Mus musculus
I172GIGKVIRGWDE1Bos taurus
I208QPDAKIPPNAK2Homo sapiens, Bos taurus
I208QPDAKIPPNTK1Mus musculus
K170KVGVGKVIRGW2Homo sapiens, Mus musculus
K170KVGIGKVIRGW1Bos taurus
L162KNAKPLSFKVG3Homo sapiens, Mus musculus, Bos taurus
V171VGVGKVIRGWD2Homo sapiens, Mus musculus
V171VGIGKVIRGWD1Bos taurus
W175KVIRGWDEALL3Homo sapiens, Mus musculus, Bos taurus
Y135VVHCWYTGTLQ2Homo sapiens, Bos taurus
Y135VVHCWYTGTLP1Mus musculus
Y198EPEWAYGKKGQ3Homo sapiens, Mus musculus, Bos taurus


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