Hs01127268_cn

• Gene Symbol: GATA1
• Assay Reference Genome Location: Chr.X:48791852 on build GRCh38
• Cytoband: Xp11.23

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 Intron 2 - Exon 3

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

More Information

• Set Membership: Intragenic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

DNA-binding transcription factor

Gene Ontology Categories:

Process(es)

negative regulation of transcription from RNA polymerase II promoter
in utero embryonic development
transcription from RNA polymerase II promoter
cell-cell signaling
heart development
blood coagulation
negative regulation of cell proliferation
male gonad development
organ morphogenesis
tissue development
regulation of glycoprotein biosynthetic process
regulation of definitive erythrocyte differentiation
regulation of primitive erythrocyte differentiation
erythrocyte differentiation
megakaryocyte differentiation
platelet formation
basophil differentiation
eosinophil differentiation
negative regulation of bone mineralization
positive regulation of osteoblast proliferation
embryonic hemopoiesis
eosinophil fate commitment
negative regulation of apoptotic process
positive regulation of erythrocyte differentiation
positive regulation of transcription, DNA-templated
positive regulation of transcription from RNA polymerase II promoter
digestive tract development
erythrocyte development
homeostasis of number of cells within a tissue
positive regulation of peptidyl-tyrosine phosphorylation
platelet aggregation
transcriptional activation by promoter-enhancer looping
dendritic cell differentiation
cellular response to thyroid hormone stimulus
negative regulation of transcription regulatory region DNA binding
negative regulation of extrinsic apoptotic signaling pathway in absence of ligand

Function(s)

transcription regulatory region sequence-specific DNA binding
RNA polymerase II regulatory region sequence-specific DNA binding
RNA polymerase II core promoter proximal region sequence-specific DNA binding
RNA polymerase II core promoter sequence-specific DNA binding
core promoter binding
transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding
RNA polymerase II transcription factor binding
enhancer sequence-specific DNA binding
transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding
p53 binding
DNA binding
transcription factor activity, sequence-specific DNA binding
protein binding
zinc ion binding
DNA binding, bending
chromatin DNA binding
sequence-specific DNA binding
C2H2 zinc finger domain binding