DSE
  • 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
DSE (HGNC:21144) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
dermatan sulfate epimerase
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
SART2
Alias symbols
DSEPI, DS-Epi1
%HI
5.23(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.06(Read more about gnomAD pLI score)
LOEUF
0.56(Read more about gnomAD LOEUF score)
Cytoband
6q22.1
Genomic Coordinates
GRCh37/hg19: chr6:116575334-116766024 NCBI Ensembl UCSC
GRCh38/hg38: chr6:116254171-116444861 NCBI Ensembl UCSC
MANE Select Transcript
NM_013352.4 ENST00000644252.3 (Read more about MANE Select)
Function
Converts D-glucuronic acid to L-iduronic acid (IdoUA) residues. Plays an important role in the biosynthesis of the glycosaminoglycan/mucopolysaccharide dermatan sulfate. {ECO:0000269|PubMed:16505484, ECO:0000269|PubMed:19004833, ECO:0000269|PubMed:7092807, ECO:0000269|Ref.7}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-25451
ClinGen Curation ID:
CCID:007036
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:
  • Ehlers-Danlos syndrome, musculocontractural type 2 Monarch

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000006.11) (NC_000006.12)