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 2 - Exon 3 |
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 | OTUD5 PRICKLE3 PPP1R3F CACNA1F PRAF2 WDR45 PIM2 CCDC120 LOC101927635 SLC35A2 SYP KCND1 TBC1D25 HDAC6 GATA1 PORCN SLC38A5 SUV39H1 GPKOW SYP-AS1 FOXP3 FTSJ1 EBP ERAS GLOD5 TIMM17B PQBP1 RBM3 MAGIX PCSK1N TFE3 PLP2 WDR13 GRIPAP1 WAS CCDC22 |
esv3576862 | Chr.X:48755018 - 48837713 on Build GRCh38 | Gain | HDAC6 PCSK1N GATA1 ERAS GLOD5 |
esv32909 | Chr.X:48003374 - 49285646 on Build GRCh38 | Gain+Loss | OTUD5 PRICKLE3 PPP1R3F CACNA1F PRAF2 WDR45 PIM2 CCDC120 SPACA5 SSX3 LOC101927635 SLC35A2 SYP KCND1 TBC1D25 HDAC6 SSX6 GATA1 SPACA5B SSX9 ZNF182 PORCN SLC38A5 SUV39H1 GPKOW SYP-AS1 FOXP3 SSX4 ZNF630 FTSJ1 EBP SSX5 ERAS ZNF630-AS1 SSX4B GLOD5 TIMM17B PQBP1 RBM3 MAGIX PCSK1N SSX1 TFE3 PLP2 WDR13 GRIPAP1 WAS CCDC22 |
nsv6893 | Chr.X:48778273 - 48810147 on Build GRCh38 | Insertion | HDAC6 GATA1 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |