Assay Details
Target Gene Details
Entrez Gene ID: | 50943 |
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 Transcript Location | Protein ID |
---|---|---|---|---|
FOXP3 | NM_001114377.1 | 11 | 1675 | NP_001107849.1 |
NM_014009.3 | 12 | 1780 | NP_054728.2 | |
XM_006724533.2 | 11 | 1955 | XP_006724596.2 | |
XM_011543916.2 | 11 | 3385 | XP_011542218.1 | |
XM_017029565.1 | 13 | 3241 | XP_016885054.1 | |
XM_017029566.1 | 12 | 3205 | XP_016885055.1 | |
XM_017029567.1 | 10 | 1780 | XP_016885056.1 | |
AF277993.1 | 12 | 1780 | AAG53607.1 | |
DB342786.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv471602 | Chr.X:49205142 - 49320261 on Build GRCh38 | Gain | CCDC22 PPP1R3F GAGE10 FOXP3 CACNA1F |
nsv528292 | Chr.X:48433286 - 49274368 on Build GRCh38 | Gain | GLOD5 CCDC22 PQBP1 PORCN WDR45 PIM2 PCSK1N OTUD5 EBP GRIPAP1 FTSJ1 TIMM17B WAS RBM3 KCND1 WDR13 SLC35A2 PLP2 SLC38A5 SYP-AS1 SYP TBC1D25 GPKOW CACNA1F LOC101927635 MAGIX GATA1 CCDC120 TFE3 PPP1R3F PRAF2 ERAS FOXP3 SUV39H1 HDAC6 PRICKLE3 |
esv32909 | Chr.X:48003374 - 49285646 on Build GRCh38 | Gain+Loss | GLOD5 CCDC22 SSX4 PQBP1 PORCN WDR45 PIM2 PCSK1N OTUD5 EBP SSX5 GRIPAP1 FTSJ1 TIMM17B WAS RBM3 KCND1 WDR13 SLC35A2 PLP2 SLC38A5 SYP-AS1 SYP ZNF182 TBC1D25 GPKOW CACNA1F LOC101927635 SSX9 SSX4B MAGIX ZNF630-AS1 GATA1 SSX6 CCDC120 ZNF630 SSX3 SPACA5B TFE3 PPP1R3F PRAF2 ERAS FOXP3 SSX1 SUV39H1 SPACA5 HDAC6 PRICKLE3 |
nsv469734 | Chr.X:49205141 - 49320261 on Build GRCh38 | Gain+Loss | CCDC22 PPP1R3F GAGE10 FOXP3 CACNA1F |
nsv6895 | Chr.X:49227319 - 49262690 on Build GRCh38 | Insertion | CCDC22 FOXP3 CACNA1F |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |