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