AASS
  • 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
AASS (HGNC:17366) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
aminoadipate-semialdehyde synthase
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
LORSDH, LKRSDH
%HI
45.6(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.95(Read more about gnomAD LOEUF score)
Cytoband
7q31.32
Genomic Coordinates
GRCh37/hg19: chr7:121713603-121784303 NCBI Ensembl UCSC
GRCh38/hg38: chr7:122073549-122144249 NCBI Ensembl UCSC
MANE Select Transcript
NM_005763.4 ENST00000417368.7 (Read more about MANE Select)
Function
Bifunctional enzyme that catalyzes the first two steps in lysine degradation. {ECO:0000269|PubMed:10775527, ECO:0000269|PubMed:463877}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-34411
ClinGen Curation ID:
CCID:006595
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
Not Yet Evaluated
Read full report...
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)