DNASE1
  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
DNASE1 (HGNC:2956) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
deoxyribonuclease 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
DNL1
Alias symbols
No aliases found
%HI
65.82(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.46(Read more about gnomAD LOEUF score)
Cytoband
16p13.3
Genomic Coordinates
GRCh37/hg19: chr16:3661761-3715462 NCBI Ensembl UCSC
GRCh38/hg38: chr16:3611760-3665461 NCBI Ensembl UCSC
MANE Select Transcript
NM_005223.4 ENST00000246949.10 (Read more about MANE Select)
Function
Serum endocuclease secreted into body fluids by a wide variety of exocrine and endocrine organs (PubMed:2251263, PubMed:11241278, PubMed:2277032). Expressed by non-hematopoietic tissues and preferentially cleaves protein-free DNA (By similarity). Among other functions, seems to be involved in cell death by apoptosis (PubMed:11241278). Binds specifically to G-actin and blocks actin polymerization (By similarity). Together with DNASE1L3, plays a key role in degrading neutrophil extracellular traps... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-33131
ClinGen Curation ID:
CCID:007020
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
02/22/2012

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
No focal deletions involving DNASE1 have been described and thus 'haploinsufficiency status' is unknown. The authors characterize several patients with Rubinstein-Taybi syndrome (RSTS) who had a chromosomal microdeletion including the CREBBP gene. The patients with severe RSTS all had deletions comprising telomeric neighbor genes of CREBBP, including DNASE1, a dominant gene encoding a nuclease that has been associated with systemic lupus erythematodes (PMID:19360410)

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
No Literature Identified.

Genomic View

Select assembly: (NC_000016.9) (NC_000016.10)