Product Details

Assay Reference Genome
Location

Chr.X:49250896 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 Exon 12
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
FOXP3 NM_001114377.1 11 1817 NP_001107849.1
NM_014009.3 12 1922 NP_054728.2
XM_006724533.2 11 2097 XP_006724596.2
XM_011543916.2 11 3527 XP_011542218.1
XM_017029565.1 13 3383 XP_016885054.1
XM_017029566.1 12 3347 XP_016885055.1
XM_017029567.1 10 1922 XP_016885056.1
AF277993.1 AAG53607.1
BQ184335.1
DB342786.1 1 458

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

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