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 | 1458 | NP_001107849.1 |
NM_014009.3 | 12 | 1563 | NP_054728.2 | |
XM_006724533.2 | 11 | 1738 | XP_006724596.2 | |
XM_011543916.2 | 11 | 3168 | XP_011542218.1 | |
XM_017029565.1 | 13 | 3024 | XP_016885054.1 | |
XM_017029566.1 | 12 | 2988 | XP_016885055.1 | |
XM_017029567.1 | 10 | 1563 | XP_016885056.1 | |
AF277993.1 | 12 | 1563 | AAG53607.1 | |
AK292052.1 | ||||
AK299988.1 | 11 | 1342 |
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 | PPP1R3F CACNA1F CCDC22 GAGE10 FOXP3 |
nsv528292 | Chr.X:48433286 - 49274368 on Build GRCh38 | Gain | GRIPAP1 PPP1R3F PRAF2 CACNA1F PRICKLE3 TFE3 WAS SLC38A5 WDR45 PLP2 OTUD5 FOXP3 EBP PQBP1 FTSJ1 TIMM17B LOC101927635 SYP-AS1 CCDC120 GLOD5 SUV39H1 RBM3 MAGIX PIM2 ERAS SYP TBC1D25 HDAC6 GPKOW CCDC22 KCND1 PORCN SLC35A2 PCSK1N WDR13 GATA1 |
esv32909 | Chr.X:48003374 - 49285646 on Build GRCh38 | Gain+Loss | GRIPAP1 SSX1 PPP1R3F PRAF2 SSX3 CACNA1F PRICKLE3 TFE3 SSX4B SSX6 SSX5 WAS SLC38A5 WDR45 SPACA5B PLP2 OTUD5 FOXP3 EBP PQBP1 FTSJ1 TIMM17B LOC101927635 SYP-AS1 CCDC120 GLOD5 SUV39H1 RBM3 ZNF630 SSX4 MAGIX PIM2 ZNF630-AS1 ERAS SYP TBC1D25 HDAC6 GPKOW CCDC22 KCND1 PORCN SPACA5 SLC35A2 PCSK1N SSX9 WDR13 ZNF182 GATA1 |
nsv469734 | Chr.X:49205141 - 49320261 on Build GRCh38 | Gain+Loss | PPP1R3F CACNA1F CCDC22 GAGE10 FOXP3 |
nsv6895 | Chr.X:49227319 - 49262690 on Build GRCh38 | Insertion | CACNA1F CCDC22 FOXP3 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |