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 1 - 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 |
---|---|---|---|
nsv528292 | Chr.X:48433286 - 49274368 on Build GRCh38 | Gain | CCDC22 EBP HDAC6 TIMM17B WAS SLC38A5 GPKOW MAGIX PORCN GATA1 GLOD5 FTSJ1 WDR45 CACNA1F WDR13 PRICKLE3 LOC101927635 GRIPAP1 FOXP3 SYP PRAF2 PCSK1N SUV39H1 ERAS SYP-AS1 SLC35A2 PQBP1 PLP2 KCND1 PIM2 TBC1D25 RBM3 OTUD5 CCDC120 PPP1R3F TFE3 |
esv3576862 | Chr.X:48755018 - 48837713 on Build GRCh38 | Gain | GATA1 HDAC6 GLOD5 PCSK1N ERAS |
esv32909 | Chr.X:48003374 - 49285646 on Build GRCh38 | Gain+Loss | CCDC22 SSX1 EBP HDAC6 TIMM17B WAS SSX6 SLC38A5 GPKOW SSX4B MAGIX PORCN SSX5 SSX3 GATA1 GLOD5 FTSJ1 WDR45 CACNA1F WDR13 PRICKLE3 SPACA5 LOC101927635 ZNF182 ZNF630 SSX9 SPACA5B GRIPAP1 FOXP3 SYP PRAF2 PCSK1N SUV39H1 ERAS SYP-AS1 SLC35A2 PQBP1 PLP2 KCND1 PIM2 TBC1D25 RBM3 OTUD5 ZNF630-AS1 CCDC120 PPP1R3F TFE3 SSX4 |
nsv6893 | Chr.X:48778273 - 48810147 on Build GRCh38 | Insertion | GATA1 HDAC6 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |