The DSE gene homepage

Ehlers Danlos Syndrome Variant Database

General information
Gene symbol DSE
Gene name dermatan sulfate epimerase
Chromosome 6
Chromosomal band q22.1
Imprinted Unknown
Genomic reference NG_033266.3
Transcript reference NM_013352.2
Exon/intron information NM_013352.2 exon/intron table
Associated with diseases EDSMC, EDSMC2
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Raymond Dalgleish and Wei Kheng Teh
Total number of public variants reported 41
Unique public DNA variants reported 31
Individuals with public variants 304
Hidden variants 2
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome.
Date created May 03, 2013
Date last updated June 21, 2022
Version DSE:220621

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_013352.2.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
HGNC 21144
Entrez Gene 29940
PubMed articles DSE
OMIM - Gene 605942
OMIM - Diseases EDSMC2 (Ehlers-Danlos, musculocontractural syndrome, type 2 (EDSMC2))
GeneCards DSE
GeneTests DSE
Orphanet DSE

Active transcripts




NCBI ID     

NCBI Protein ID     

00006714 6 transcript variant 1 NM_013352.2 NP_037484.1 41

Copyright & disclaimer
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