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