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 FOXP3
Gene summary
Basic gene Info.Gene symbolFOXP3
Gene nameforkhead box P3
CytomapUCSC genome browser: Xp11.23
Type of geneprotein-coding
DescriptionFOXP3delta7forkhead box protein P3immune dysregulation, polyendocrinopathy, enteropathy, X-linkedimmunodeficiency, polyendocrinopathy, enteropathy, X-linkedscurfin
Modification date20141222
dbXrefs MIM : 300292
Ensembl : ENSG00000049768
HPRD : 02242
Vega : OTTHUMG00000024135
ProteinUniProt: Q9BZS1
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_FOXP3
BioGPS: 50943
PathwayNCI Pathway Interaction Database: FOXP3
Pathway Commons: FOXP3
ContextiHOP: FOXP3
ligand binding site mutation search in PubMed: FOXP3
UCL Cancer Institute: FOXP3
Assigned class in mutLBSgeneDBB: This gene belongs to targetable_mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0002725negative regulation of T cell cytokine production15466453
GO:0008285negative regulation of cell proliferation15652505
GO:0032088negative regulation of NF-kappaB transcription factor activity16652169
GO:0032689negative regulation of interferon-gamma production15466453
GO:0032693negative regulation of interleukin-10 production15466453
GO:0032703negative regulation of interleukin-2 production15466453
GO:0032713negative regulation of interleukin-4 production15466453
GO:0032792negative regulation of CREB transcription factor activity16652169
GO:0042036negative regulation of cytokine biosynthetic process11483607
GO:0042110T cell activation15466453
GO:0042130negative regulation of T cell proliferation15466453
GO:0043433negative regulation of sequence-specific DNA binding transcription factor activity16873067
GO:0045892negative regulation of transcription, DNA-templated11483607
GO:0045893positive regulation of transcription, DNA-templated15466453
GO:0050710negative regulation of cytokine secretion11483607
GO:0050777negative regulation of immune response15652505

Ligand binding site mutations for FOXP3
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
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.

Protein structure related information for FOXP3
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
(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 FOXP3 from PDB

Differential gene expression and gene-gene network for FOXP3
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 FOXP3 and the right PPI network was created from samples without mutations in the LBS of FOXP3. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for FOXP3
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0011854Diabetes Mellitus, Type 128Biomarker, GeneticVariation
umls:C0023493Leukemia-Lymphoma, Adult T-Cell10AlteredExpression, Biomarker
umls:C0342288Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked5Biomarker, GeneticVariation
umls:C1458155Breast Neoplasms4AlteredExpression, Biomarker
umls:C0032460Polycystic Ovary Syndrome1Biomarker

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

Pharmacological information for FOXP3
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 FOXP3 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
NUCNucleic Acids3qrfGR386 W406
NUCNucleic Acids4wk8FR386 W406

Conservation information for LBS of FOXP3
Multiple alignments for Q9BZS1 in multiple species
LBSAA sequence# speciesSpecies

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