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: | Overlaps Intron 5 - Exon 6 |
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 | SLC35A2 PLP2 RBM3 PIM2 WAS SLC38A5 PRAF2 ERAS TIMM17B TFE3 LOC101927635 MAGIX SYP HDAC6 WDR13 OTUD5 PQBP1 PORCN GRIPAP1 CCDC22 SUV39H1 PRICKLE3 PPP1R3F FTSJ1 GATA1 GLOD5 CACNA1F TBC1D25 GPKOW KCND1 WDR45 SYP-AS1 PCSK1N EBP FOXP3 CCDC120 |
esv3576862 | Chr.X:48755018 - 48837713 on Build GRCh38 | Gain | ERAS PCSK1N GATA1 GLOD5 HDAC6 |
esv32909 | Chr.X:48003374 - 49285646 on Build GRCh38 | Gain+Loss | SLC35A2 PLP2 RBM3 PIM2 SSX5 WAS ZNF630 SSX1 SLC38A5 PRAF2 ERAS TIMM17B TFE3 LOC101927635 MAGIX SYP SSX4 HDAC6 WDR13 OTUD5 PQBP1 PORCN GRIPAP1 CCDC22 SSX3 SUV39H1 PRICKLE3 PPP1R3F SPACA5B FTSJ1 GATA1 GLOD5 CACNA1F TBC1D25 GPKOW KCND1 WDR45 ZNF182 SYP-AS1 SSX4B PCSK1N ZNF630-AS1 EBP SSX9 FOXP3 SPACA5 SSX6 CCDC120 |
nsv6893 | Chr.X:48778273 - 48810147 on Build GRCh38 | Insertion | GATA1 HDAC6 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |