Product Details

Assay Reference Genome
Location

Chr.X:49251393 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 1320 NP_001107849.1
NM_014009.3 12 1425 NP_054728.2
XM_006724533.2 11 1600 XP_006724596.2
XM_011543916.2 11 3030 XP_011542218.1
XM_017029565.1 13 2886 XP_016885054.1
XM_017029566.1 12 2850 XP_016885055.1
XM_017029567.1 10 1425 XP_016885056.1
AF277993.1 12 1425 AAG53607.1
AJ005891.1 10 1267 CAA06748.1
AK292052.1 12 1309
AK299988.1 11 1204
BC113401.1 11 1267
BC113403.1 11 1267
BC143785.1 10 1162
BC143786.1 10 1336
DQ010327.1 10 1132 AAY27088.1
EF534714.1 11 1237
EU855812.1 10 1156

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

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