FOXP3 forkhead box P3

Information
Symbol
FOXP3
Type
protein-coding
Description
forkhead box P3
Entrez Gene ID
50943
Genome
hg19
Position
chrX:49,106,899-49,121,172
Genome
hg38
Position
chrX:49,250,438-49,264,710
MIM
300292 OMIM
HGNC
HGNC:6106 HGNC
Ensembl
ENSG00000049768 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 12 62
Likely pathogenic 0 42
Benign 0 79
Likely benign 0 204
Conflicting classifications of pathogenicity 0 36
Likely risk allele 0 4
not provided 6 0
Uncertain significance 0 242
Ranking
ClinVar
0
0
90
497
16
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM AIID
SYNONYM DIETER
SYNONYM IPEX
SYNONYM JM2
SYNONYM PIDX
SYNONYM XPID
MIM 300292 OMIM
HGNC HGNC:6106 HGNC
Ensembl ENSG00000049768 Ensembl
AllianceGenome HGNC:6106
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000557224.6 hg38 chrX 49,251,334 49,264,710 13,377
ENST00000376199.7 hg38 chrX 49,251,090 49,264,800 13,711
ENST00000455775.7 hg38 chrX 49,251,295 49,264,668 13,374
ENST00000518685.6 hg38 chrX 49,251,334 49,258,505 7,172
ENST00000376207.10 hg38 chrX 49,250,438 49,264,710 14,273
ENST00000376207.10 hg19 chrX 49,106,899 49,121,172 14,274
ENST00000376199.7 hg19 chrX 49,107,551 49,121,262 13,712
ENST00000455775.7 hg19 chrX 49,107,756 49,121,130 13,375
ENST00000518685.6 hg19 chrX 49,107,795 49,114,962 7,168
ENST00000557224.6 hg19 chrX 49,107,795 49,121,172 13,378
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