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)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
03/25/2015
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- Werner syndrome Monarch
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)