WRN
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
WRN (HGNC:12791) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
WRN RecQ like helicase
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
RECQL2, RECQ3
%HI
17.41(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.9(Read more about gnomAD LOEUF score)
Cytoband
8p12
Genomic Coordinates
GRCh37/hg19: chr8:30891326-31033654 NCBI Ensembl UCSC
GRCh38/hg38: chr8:31033810-31176138 NCBI Ensembl UCSC
MANE Select Transcript
NM_000553.6 ENST00000298139.7 (Read more about MANE Select)
Function
Multifunctional enzyme that has magnesium and ATP-dependent 3'-5' DNA-helicase activity on partially duplex substrates (PubMed:9611231, PubMed:9224595, PubMed:9288107). Also has 3'->5' exonuclease activity towards double-stranded DNA with a 5'-overhang (PubMed:11863428). Has no nuclease activity towards single-stranded DNA or blunt-ended double-stranded DNA (PubMed:11863428). Helicase activity is most efficient with (d)ATP, but (d)CTP will substitute with reduced efficiency; strand displacement ... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-36081
ClinGen Curation ID:
CCID:008113
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
03/25/2015

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
HI Evidence Comments:
Variants in WRN have been reported in individuals with Werner syndrome, an autosomal recessive condition.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000008.10) (NC_000008.11)