Product Details

Assay Reference Genome
Location

Chr.X:49254512 on build GRCh38
Cytoband
Xp11.23
Species
Homo sapiens
Variation Type
Copy Number

Additional Information

Target Gene Details

Entrez Gene ID
50943
Gene Symbol
FOXP3
Gene Name
forkhead box P3
Gene Aliases
AIID, DIETER, IPEX, JM2, PIDX, XPID
Location
Chr.X:49250436-49266505 on build GRCh38
Assay Gene Location
Within Intron 9
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
FOXP3 NM_001114377.1 NP_001107849.1
NM_014009.3 NP_054728.2
XM_006724533.2 XP_006724596.2
XM_011543916.2 XP_011542218.1
XM_017029565.1 XP_016885054.1
XM_017029566.1 XP_016885055.1
XM_017029567.1 XP_016885056.1
AF277993.1 AAG53607.1
AJ005891.1 CAA06748.1
AK292052.1
AK299988.1
BC113401.1
BC113403.1
BC143785.1
BC143786.1
DQ010327.1 AAY27088.1
EF534714.1
EU855812.1

Target Copy Number Variation Details

DGV Version
Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv471602 ChrX:49205142 - 49320261 on Build GRCh38 Gain FOXP3 CCDC22 PPP1R3F CACNA1F GAGE10
nsv528292 ChrX:48433286 - 49274368 on Build GRCh38 Gain SLC35A2 FOXP3 GPKOW PPP1R3F WAS RBM3 TFE3 MAGIX SYP GATA1 LOC101927635 FTSJ1 PIM2 WDR45 PRICKLE3 PRAF2 PCSK1N TIMM17B SLC38A5 WDR13 PQBP1 SYP-AS1 GLOD5 TBC1D25 GRIPAP1 HDAC6 PORCN CACNA1F EBP PLP2 CCDC22 KCND1 CCDC120 ERAS SUV39H1 OTUD5
esv32909 ChrX:48003374 - 49285646 on Build GRCh38 Gain+Loss SLC35A2 FOXP3 GPKOW PPP1R3F ZNF630 SSX1 WAS RBM3 SSX5 SPACA5 SSX6 TFE3 MAGIX SYP SSX4 GATA1 LOC101927635 FTSJ1 PIM2 WDR45 PRICKLE3 PRAF2 PCSK1N SSX4B TIMM17B SLC38A5 WDR13 PQBP1 SYP-AS1 GLOD5 TBC1D25 ZNF182 GRIPAP1 HDAC6 PORCN CACNA1F ZNF630-AS1 EBP PLP2 SSX3 CCDC22 KCND1 SPACA5B CCDC120 SSX9 ERAS SUV39H1 OTUD5
nsv469734 ChrX:49205141 - 49320261 on Build GRCh38 Gain+Loss FOXP3 CCDC22 PPP1R3F CACNA1F GAGE10
nsv6895 ChrX:49227319 - 49262690 on Build GRCh38 Insertion FOXP3 CCDC22 CACNA1F

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