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 Exon 6 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
GATA1 | NM_002049.3 | 6 | 1172 | NP_002040.1 |
XM_011543897.2 | 6 | 1221 | XP_011542199.1 | |
XM_011543898.2 | 5 | 981 | XP_011542200.1 | |
BC009797.1 | AAH09797.1 | |||
M30601.1 | 6 | 1139 | AAA35885.1 | |
X17254.1 | 6 | 1193 | 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 | TFE3 PLP2 FTSJ1 FOXP3 CACNA1F CCDC120 WDR13 EBP PRAF2 KCND1 GLOD5 GRIPAP1 OTUD5 CCDC22 GPKOW MAGIX PPP1R3F PCSK1N SLC35A2 TBC1D25 LOC101927635 RBM3 SYP-AS1 HDAC6 WAS GATA1 SUV39H1 SLC38A5 PIM2 PORCN TIMM17B PQBP1 SYP PRICKLE3 ERAS WDR45 |
esv3576862 | Chr.X:48755018 - 48837713 on Build GRCh38 | Gain | PCSK1N GLOD5 HDAC6 GATA1 ERAS |
esv32909 | Chr.X:48003374 - 49285646 on Build GRCh38 | Gain+Loss | SPACA5B TFE3 PLP2 SSX6 FTSJ1 SSX1 FOXP3 CACNA1F CCDC120 WDR13 EBP PRAF2 SSX5 KCND1 GLOD5 GRIPAP1 OTUD5 CCDC22 GPKOW MAGIX SPACA5 PPP1R3F SSX9 PCSK1N SLC35A2 TBC1D25 LOC101927635 RBM3 SYP-AS1 SSX4B HDAC6 WAS GATA1 SSX4 SUV39H1 SLC38A5 ZNF630-AS1 ZNF182 PIM2 PORCN TIMM17B PQBP1 SSX3 ZNF630 SYP PRICKLE3 ERAS WDR45 |
nsv6893 | Chr.X:48778273 - 48810147 on Build GRCh38 | Insertion | HDAC6 GATA1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |