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 4 - Intron 4 |
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 | SLC35A2 CCDC120 GPKOW MAGIX TBC1D25 SUV39H1 WAS PORCN RBM3 PIM2 CACNA1F WDR13 PCSK1N TFE3 EBP PPP1R3F PQBP1 FOXP3 PRAF2 GLOD5 TIMM17B CCDC22 SYP GRIPAP1 SYP-AS1 SLC38A5 FTSJ1 OTUD5 HDAC6 KCND1 PLP2 ERAS WDR45 PRICKLE3 GATA1 LOC101927635 |
esv3576862 | Chr.X:48755018 - 48837713 on Build GRCh38 | Gain | GLOD5 HDAC6 PCSK1N ERAS GATA1 |
esv32909 | Chr.X:48003374 - 49285646 on Build GRCh38 | Gain+Loss | ZNF630-AS1 SLC35A2 CCDC120 ZNF630 SSX6 GPKOW ZNF182 MAGIX TBC1D25 SUV39H1 WAS PORCN RBM3 PIM2 CACNA1F WDR13 PCSK1N TFE3 EBP PPP1R3F SSX1 PQBP1 SPACA5 FOXP3 PRAF2 GLOD5 TIMM17B SSX3 CCDC22 SSX4B SYP GRIPAP1 SYP-AS1 SPACA5B SSX4 SLC38A5 FTSJ1 OTUD5 HDAC6 KCND1 PLP2 ERAS WDR45 SSX5 PRICKLE3 GATA1 SSX9 LOC101927635 |
nsv6893 | Chr.X:48778273 - 48810147 on Build GRCh38 | Insertion | HDAC6 GATA1 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |