Assay Details
Target Gene Details
Entrez Gene ID: | 2623 |
Gene Name: | GATA binding protein 1 |
Gene Aliases: |
ERYF1, GATA-1, GF-1, GF1, NF-E1, NFE1, XLANP, XLTDA, XLTT |
Location: |
Chr.X:48786540-48794311 on Build GRCh38 |
Assay Gene Location: | Within Intron 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
GATA1 | NM_002049.3 | NP_002040.1 | ||
XM_011543897.2 | XP_011542199.1 | |||
XM_011543898.2 | XP_011542200.1 | |||
BC009797.1 | AAH09797.1 | |||
M30601.1 | AAA35885.1 | |||
X17254.1 | CAA35120.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv528292 | Chr.X:48433286 - 49274368 on Build GRCh38 | Gain | MAGIX CCDC22 TFE3 PCSK1N WAS ERAS GRIPAP1 HDAC6 SLC35A2 SYP PIM2 PPP1R3F TIMM17B SUV39H1 PLP2 PORCN OTUD5 CACNA1F GPKOW PRICKLE3 CCDC120 WDR13 PRAF2 GLOD5 WDR45 TBC1D25 LOC101927635 EBP KCND1 FOXP3 RBM3 PQBP1 SYP-AS1 GATA1 FTSJ1 SLC38A5 |
esv3576862 | Chr.X:48755018 - 48837713 on Build GRCh38 | Gain | PCSK1N GLOD5 ERAS GATA1 HDAC6 |
esv32909 | Chr.X:48003374 - 49285646 on Build GRCh38 | Gain+Loss | SPACA5 ZNF630-AS1 MAGIX SSX6 CCDC22 TFE3 PCSK1N WAS ERAS GRIPAP1 HDAC6 SLC35A2 ZNF182 SYP SSX1 SSX3 PIM2 PPP1R3F TIMM17B SUV39H1 SSX4B PLP2 ZNF630 PORCN OTUD5 CACNA1F GPKOW PRICKLE3 CCDC120 WDR13 PRAF2 GLOD5 WDR45 TBC1D25 LOC101927635 EBP KCND1 SSX5 FOXP3 RBM3 SSX9 PQBP1 SYP-AS1 GATA1 SPACA5B FTSJ1 SLC38A5 SSX4 |
nsv6893 | Chr.X:48778273 - 48810147 on Build GRCh38 | Insertion | GATA1 HDAC6 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |