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 |
---|---|---|---|
esv28934 | Chr.X:48786823 - 48787648 on Build GRCh38 | Gain | GATA1 |
nsv528292 | Chr.X:48433286 - 49274368 on Build GRCh38 | Gain | PIM2 PORCN HDAC6 TIMM17B ERAS GLOD5 PCSK1N MAGIX FTSJ1 RBM3 SLC38A5 PRAF2 CACNA1F OTUD5 TFE3 PPP1R3F GRIPAP1 LOC101927635 SUV39H1 KCND1 PRICKLE3 GPKOW SYP WDR13 TBC1D25 CCDC120 EBP SYP-AS1 WAS FOXP3 SLC35A2 CCDC22 WDR45 GATA1 PQBP1 PLP2 |
esv3576862 | Chr.X:48755018 - 48837713 on Build GRCh38 | Gain | HDAC6 ERAS GLOD5 PCSK1N GATA1 |
esv32909 | Chr.X:48003374 - 49285646 on Build GRCh38 | Gain+Loss | PIM2 ZNF630-AS1 PORCN HDAC6 TIMM17B ERAS GLOD5 PCSK1N SSX3 MAGIX FTSJ1 SSX4B RBM3 SLC38A5 PRAF2 CACNA1F SPACA5 ZNF182 OTUD5 TFE3 PPP1R3F GRIPAP1 SSX9 LOC101927635 SUV39H1 SSX6 KCND1 PRICKLE3 GPKOW SYP SSX5 SSX4 WDR13 TBC1D25 SSX1 SPACA5B CCDC120 EBP SYP-AS1 WAS FOXP3 SLC35A2 CCDC22 ZNF630 WDR45 GATA1 PQBP1 PLP2 |
nsv6893 | Chr.X:48778273 - 48810147 on Build GRCh38 | Insertion | HDAC6 GATA1 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |