• 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
GATAD1 (HGNC:29941) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
GATA zinc finger domain containing 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
ODAG, RG083M05.2, FLJ22489
%HI
37.42(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.43(Read more about gnomAD pLI score)
LOEUF
0.65(Read more about gnomAD LOEUF score)
Cytoband
7q21.2
Genomic Coordinates
GRCh37/hg19: chr7:92076796-92089389 NCBI Ensembl UCSC
GRCh38/hg38: chr7:92447482-92495769 NCBI Ensembl UCSC
MANE Select Transcript
NM_021167.5 ENST00000287957.5 (Read more about MANE Select)
Function
Component of some chromatin complex recruited to chromatin sites methylated 'Lys-4' of histone H3 (H3K4me), with a preference for trimethylated form (H3K4me3). {ECO:0000269|PubMed:20850016}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-25163
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
Not Yet Evaluated
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000007.13) (NC_000007.14)