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