• 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
OAT (HGNC:8091) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
ornithine aminotransferase
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
HOGA
%HI
31.64(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.96(Read more about gnomAD LOEUF score)
Cytoband
10q26.13
Genomic Coordinates
GRCh37/hg19: chr10:126085872-126107492 NCBI Ensembl UCSC
GRCh38/hg38: chr10:124397303-124418923 NCBI Ensembl UCSC
MANE Select Transcript
NM_000274.4 ENST00000368845.6 (Read more about MANE Select)
Function
Catalyzes the reversible interconversion of L-ornithine and 2-oxoglutarate to L-glutamate semialdehyde and L-glutamate. {ECO:0000269|PubMed:1737786, ECO:0000269|PubMed:23076989}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-29562
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:
  • ornithine aminotransferase deficiency Monarch

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000010.10) (NC_000010.11)