Assay Details
Target Gene Details
Entrez Gene ID: | 28952 |
Gene Name: | coiled-coil domain containing 22 |
Gene Aliases: |
CXorf37, JM1, RTSC2 |
Location: |
Chr.X:49235467-49250526 on Build GRCh38 |
Assay Gene Location: | Overlaps - Exon 17 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
CCDC22 | NM_014008.4 | NP_054727.1 | ||
XM_005272599.3 | XP_005272656.1 | |||
AJ005890.1 | CAA06747.1 | |||
AK291976.1 | ||||
AK298264.1 | ||||
AK316375.1 | ||||
BC000972.2 | AAH00972.1 | |||
BC011675.2 | AAH11675.1 |
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 | 2166 | NP_001107849.1 |
NM_014009.3 | 12 | 2271 | NP_054728.2 | |
XM_006724533.2 | 11 | 2446 | XP_006724596.2 | |
XM_011543916.2 | 11 | 3876 | XP_011542218.1 | |
XM_017029565.1 | 13 | 3732 | XP_016885054.1 | |
XM_017029566.1 | 12 | 3696 | XP_016885055.1 | |
XM_017029567.1 | 10 | 2271 | XP_016885056.1 | |
BQ184335.1 | 1 | 127 | ||
DB342786.1 | 1 | 109 |
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 | FOXP3 PPP1R3F GAGE10 CACNA1F CCDC22 |
nsv528292 | Chr.X:48433286 - 49274368 on Build GRCh38 | Gain | GRIPAP1 SYP PCSK1N CCDC120 PRAF2 SYP-AS1 OTUD5 WAS CCDC22 RBM3 FTSJ1 KCND1 PORCN LOC101927635 PQBP1 ERAS GPKOW FOXP3 GLOD5 EBP TIMM17B TFE3 PIM2 MAGIX PLP2 TBC1D25 CACNA1F PRICKLE3 WDR13 SUV39H1 HDAC6 GATA1 PPP1R3F SLC38A5 SLC35A2 WDR45 |
esv32909 | Chr.X:48003374 - 49285646 on Build GRCh38 | Gain+Loss | GRIPAP1 SYP PCSK1N CCDC120 SSX4B SPACA5 PRAF2 SYP-AS1 OTUD5 WAS CCDC22 SSX9 RBM3 FTSJ1 SSX6 KCND1 SSX5 PORCN LOC101927635 PQBP1 ERAS GPKOW ZNF630-AS1 FOXP3 GLOD5 EBP TIMM17B TFE3 PIM2 MAGIX PLP2 TBC1D25 CACNA1F ZNF182 PRICKLE3 WDR13 SUV39H1 ZNF630 SSX3 HDAC6 SSX4 GATA1 PPP1R3F SLC38A5 SSX1 SLC35A2 WDR45 SPACA5B |
nsv469734 | Chr.X:49205141 - 49320261 on Build GRCh38 | Gain+Loss | FOXP3 PPP1R3F GAGE10 CACNA1F CCDC22 |
nsv6895 | Chr.X:49227319 - 49262690 on Build GRCh38 | Insertion | FOXP3 CACNA1F CCDC22 |
More Information
Set Membership: |
Intragenic Exonic Non-exonic DGV Variation |