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