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