GATAD1 |
- 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
- 0.06(Read more about gnomAD pLI score)
- LOEUF
- 1.79(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
ClinGen Curation ID:
CCID:007192
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:
- dilated cardiomyopathy 2B Monarch
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000007.13)
(NC_000007.14)