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 | 1318 | NP_002040.1 |
XM_011543897.2 | 6 | 1367 | XP_011542199.1 | |
XM_011543898.2 | 5 | 1127 | XP_011542200.1 | |
AI057349.1 | 1 | 184 | ||
BC009797.1 | AAH09797.1 | |||
M30601.1 | 6 | 1285 | AAA35885.1 | |
X17254.1 | 6 | 1339 | 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 | LOC101927635 CACNA1F FOXP3 SLC38A5 PIM2 ERAS FTSJ1 SYP WDR13 PCSK1N WAS GLOD5 MAGIX EBP CCDC22 CCDC120 PLP2 SUV39H1 GATA1 PRAF2 PQBP1 GRIPAP1 SYP-AS1 PPP1R3F SLC35A2 PRICKLE3 WDR45 TFE3 TIMM17B RBM3 OTUD5 KCND1 TBC1D25 GPKOW PORCN HDAC6 |
esv3576862 | Chr.X:48755018 - 48837713 on Build GRCh38 | Gain | GATA1 PCSK1N GLOD5 ERAS HDAC6 |
esv32909 | Chr.X:48003374 - 49285646 on Build GRCh38 | Gain+Loss | LOC101927635 CACNA1F SSX4 FOXP3 SSX5 SLC38A5 PIM2 ZNF630 ERAS FTSJ1 SSX3 SPACA5B SYP WDR13 PCSK1N WAS ZNF630-AS1 SSX4B GLOD5 MAGIX SSX9 EBP CCDC22 CCDC120 PLP2 SUV39H1 GATA1 PRAF2 PQBP1 GRIPAP1 SYP-AS1 PPP1R3F SLC35A2 PRICKLE3 WDR45 TFE3 TIMM17B RBM3 OTUD5 KCND1 SSX6 TBC1D25 ZNF182 GPKOW PORCN SPACA5 SSX1 HDAC6 |
nsv6893 | Chr.X:48778273 - 48810147 on Build GRCh38 | Insertion | GATA1 HDAC6 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |