• 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
GATA1 (HGNC:4170) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
GATA binding protein 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
GF1
Alias symbols
ERYF1, NFE1, GATA-1, NF-E1
%HI
45.59(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.95(Read more about gnomAD pLI score)
LOEUF
0.32(Read more about gnomAD LOEUF score)
Cytoband
Xp11.23
Genomic Coordinates
GRCh37/hg19: chrX:48644998-48652718 NCBI Ensembl UCSC
GRCh38/hg38: chrX:48786590-48794311 NCBI Ensembl UCSC
MANE Select Transcript
NM_002049.4 ENST00000376670.9 (Read more about MANE Select)
Function
Transcriptional activator or repressor which serves as a general switch factor for erythroid development (PubMed:35030251). It binds to DNA sites with the consensus sequence 5'-[AT]GATA[AG]-3' within regulatory regions of globin genes and of other genes expressed in erythroid cells. Activates the transcription of genes involved in erythroid differentiation of K562 erythroleukemia cells, including HBB, HBG1/2, ALAS2 and HMBS (PubMed:24245781). {ECO:0000269|PubMed:22235304, ECO:0000269|PubMed:2424... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-16895
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
10/14/2020

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
GATA1 variants can result in a variety of related disease, characterized by thrombocytopenia and/or anemia. The majority of reported variants are missense variants, with some reported splicing variants. There have been no whole gene deletions of GATA1 reported. Campbell et al. 2013 (PMID 23704091) analyzed a few patients missense variants in GATA1 and suggested that mechanism was by LOF. Splice site variants have been shown to result in the production of an abnormal short form of the protein. Therefore while the mechanism may be LOF, there is no evidence of disease due to haploinsufficiency. Sankaran et al. 2012 (PMID 22706301) - boy with anemia with a 1bp deletion (332delG), predicted to impair splicing and frameshift of the full-length open reading frame. This defect lead to impaired production of the full-length form of the protein. Zucker et al. 2016 (PMID 26713410)- child with thrombocytopeniawith a germline mutation in the 5'UTR which impaired a 5'UTR splicing site, leading to the production of the shortened GATA1 isoform.
NOTE:

The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
no evidence for triplosensitivity
NOTE:

The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.

Genomic View

Select assembly: (NC_000023.10) (NC_000023.11)