LOVD FOXP3 homepage

General information
Gene name forkhead box P3
Gene symbol FOXP3
Chromosome Location Xp11.23
Database location https://research.cchmc.org/LOVD2/
Curator Ammar Husami
PubMed references View all (unique) PubMed references in the FOXP3 database
Date of creation April 20, 2010
Last update April 29, 2010
Version FOXP3 100429
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Reference sequence file coding DNA reference sequence for describing sequence variants
Genomic refseq ID NC_000023.10
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 24
Total number of individuals with variant(s) 2
Total number of variants reported 25
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the FOXP3 database, sorted by type of variant (with graphical displays and statistics)
Reading-frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes

Sequence variant tables
Unique sequence variants Listing of all unique sequence variants in the FOXP3 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the FOXP3 database
Variants with no known pathogenicity Listing of all FOXP3 variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)

Search the database
By type of variant View all sequence variants of a certain type
Simple search Query the database by selecting the most important variables (exon number, type of variant, disease phenotype)
Advanced search Query the database by selecting a combination of variables
Based on patient origin View all variants based on your patient origin search terms

Links to other resources
External link #1 FOXP3base Mutation registry for Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked IPEX Mauno Vihinen, Univ. of Tampere, Tampere, Finland
External link #2 Mental Retardation database Jacopo Celli and Johan den Dunnen
HGNC 6106
Entrez Gene 50943
OMIM - Gene 300292
UniProtKB (SwissProt/TrEMBL) Q9BZS1
HGMD FOXP3
GeneCards FOXP3
GeneTests FOXP3