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mutLBSgeneDB |
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| Gene summary for FOXP3 |
 Gene summary |
| Basic gene Info. | Gene symbol | FOXP3 |
| Gene name | forkhead box P3 | |
| Synonyms | AIID|DIETER|IPEX|PIDX|XPID | |
| Cytomap | UCSC genome browser: Xp11.23 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001114377.1, NM_014009.3, | |
| Description | FOXP3delta7forkhead box protein P3immune dysregulation, polyendocrinopathy, enteropathy, X-linkedimmunodeficiency, polyendocrinopathy, enteropathy, X-linkedscurfin | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 300292 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000049768 | ||
| HPRD : 02242 | ||
| Vega : OTTHUMG00000024135 | ||
| Protein | UniProt: Q9BZS1 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_FOXP3 | |
| BioGPS: 50943 | ||
| Pathway | NCI Pathway Interaction Database: FOXP3 | |
| KEGG: FOXP3 | ||
| REACTOME: FOXP3 | ||
| Pathway Commons: FOXP3 | ||
| Context | iHOP: FOXP3 | |
| ligand binding site mutation search in PubMed: FOXP3 | ||
| UCL Cancer Institute: FOXP3 | ||
| Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0002725 | negative regulation of T cell cytokine production | 15466453 | GO:0008285 | negative regulation of cell proliferation | 15652505 | GO:0032088 | negative regulation of NF-kappaB transcription factor activity | 16652169 | GO:0032689 | negative regulation of interferon-gamma production | 15466453 | GO:0032693 | negative regulation of interleukin-10 production | 15466453 | GO:0032703 | negative regulation of interleukin-2 production | 15466453 | GO:0032713 | negative regulation of interleukin-4 production | 15466453 | GO:0032792 | negative regulation of CREB transcription factor activity | 16652169 | GO:0042036 | negative regulation of cytokine biosynthetic process | 11483607 | GO:0042110 | T cell activation | 15466453 | GO:0042130 | negative regulation of T cell proliferation | 15466453 | GO:0043433 | negative regulation of sequence-specific DNA binding transcription factor activity | 16873067 | GO:0045892 | negative regulation of transcription, DNA-templated | 11483607 | GO:0045893 | positive regulation of transcription, DNA-templated | 15466453 | GO:0050710 | negative regulation of cytokine secretion | 11483607 | GO:0050777 | negative regulation of immune response | 15652505 |
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| 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. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | W406 | V405G | HNSC | 1 | R386 | R386H | STAD | 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. |
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| 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 |
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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 | W406 | V405G | -1.6631865 | R386 | R386H | -1.2881037 |
| (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 |
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| 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) |
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| Phenotype information for FOXP3 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0011854 | Diabetes Mellitus, Type 1 | 28 | Biomarker, GeneticVariation |
| umls:C0023493 | Leukemia-Lymphoma, Adult T-Cell | 10 | AlteredExpression, Biomarker |
| umls:C0342288 | Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked | 5 | Biomarker, GeneticVariation |
| umls:C1458155 | Breast Neoplasms | 4 | AlteredExpression, Biomarker |
| umls:C0032460 | Polycystic Ovary Syndrome | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| 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. |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of FOXP3 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NUC | Nucleic Acids | 3qrf | G | R386 W406 | NUC | Nucleic Acids | 4wk8 | F | R386 W406 |
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| Conservation information for LBS of FOXP3 |
| Multiple alignments for Q9BZS1 in multiple species |
| LBS | AA sequence | # species | Species |
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