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 6 |
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 | |||
AI057349.1 | ||||
BC009797.1 | AAH09797.1 | |||
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 | SUV39H1 KCND1 FTSJ1 SYP-AS1 TIMM17B PQBP1 PLP2 EBP SYP WAS GATA1 RBM3 CACNA1F PPP1R3F GRIPAP1 CCDC120 CCDC22 OTUD5 PCSK1N PORCN LOC101927635 MAGIX TBC1D25 HDAC6 ERAS GPKOW WDR45 PRAF2 FOXP3 SLC38A5 GLOD5 SLC35A2 PIM2 TFE3 WDR13 PRICKLE3 |
esv3576862 | Chr.X:48755018 - 48837713 on Build GRCh38 | Gain | HDAC6 GLOD5 ERAS GATA1 PCSK1N |
esv32909 | Chr.X:48003374 - 49285646 on Build GRCh38 | Gain+Loss | SSX1 SUV39H1 KCND1 FTSJ1 SYP-AS1 TIMM17B ZNF630 PQBP1 PLP2 EBP SYP SSX3 WAS GATA1 RBM3 CACNA1F PPP1R3F GRIPAP1 CCDC120 CCDC22 SPACA5B OTUD5 PCSK1N PORCN SSX6 LOC101927635 MAGIX SSX4 TBC1D25 SSX4B HDAC6 ZNF630-AS1 ERAS GPKOW WDR45 PRAF2 SSX9 FOXP3 SLC38A5 SPACA5 ZNF182 GLOD5 SLC35A2 SSX5 PIM2 TFE3 WDR13 PRICKLE3 |
nsv6893 | Chr.X:48778273 - 48810147 on Build GRCh38 | Insertion | HDAC6 GATA1 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |