DNASE1 (deoxyribonuclease 1)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID 1773
Gene name Deoxyribonuclease 1
Gene symbol DNASE1
Synonyms (NCBI Gene)
DNL1DRNI
Chromosome 16
Chromosome location 16p13.3
Summary This gene encodes a member of the DNase family. This protein is stored in the zymogen granules of the nuclear envelope and functions by cleaving DNA in an endonucleolytic manner. At least six autosomal codominant alleles have been characterized, DNASE1*1
SNPs SNP information provided by dbSNP.
1
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all (1)
SNP ID Visualize variation Clinical significance Consequence
rs121912990 A>T Risk-factor Upstream transcript variant, missense variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, 5 prime UTR variant, stop gained
miRNA miRNA information provided by mirtarbase database.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all (6)
miRTarBase ID miRNA Experiments Reference
MIRT1978908 hsa-miR-3119 CLIP-seq
MIRT1978909 hsa-miR-4699-3p CLIP-seq
MIRT2387030 hsa-miR-1914 CLIP-seq
MIRT1978908 hsa-miR-3119 CLIP-seq
MIRT2387031 hsa-miR-3688-5p CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all (1)
Transcription factor Regulation Reference
RUNX3 Activation 17956589
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all (28)
GO ID Ontology Definition Evidence Reference
GO:0002283 Process Neutrophil activation involved in immune response IEA
GO:0002283 Process Neutrophil activation involved in immune response ISS 29191910
GO:0002673 Process Regulation of acute inflammatory response IEA
GO:0002673 Process Regulation of acute inflammatory response ISS 29191910
GO:0003677 Function DNA binding IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
125505 2956 ENSG00000213918
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P24855
Protein name Deoxyribonuclease-1 (EC 3.1.21.1) (Deoxyribonuclease I) (DNase I) (Dornase alfa)
Protein function Serum endocuclease secreted into body fluids by a wide variety of exocrine and endocrine organs (PubMed:11241278, PubMed:2251263, PubMed:2277032). Expressed by non-hematopoietic tissues and preferentially cleaves protein-free DNA (By similarity)
PDB 4AWN
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03372 Exo_endo_phos 26 → 274 Endonuclease/Exonuclease/phosphatase family Domain
Tissue specificity TISSUE SPECIFICITY: Principally in tissues of the digestive system. Highest levels found in urine, but also relatively abundant in semen and saliva.
Sequence
Sequence length 282
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Systemic lupus erythematosus Likely pathogenic rs77254040 RCV003993631
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (16)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATRIAL FIBRILLATION — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL SYSTEMIC LUPUS ERYTHEMATOSUS — Disgenet, Orphanet
Disgenet, Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL SYSTEMIC LUPUS ERYTHEMATOSUS TYPE 16 — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CAKUT — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (123)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Erythroblastic Leukemia Erythroblastic Leukemia BEFREE 11333275, 2137910, 3165297, 8360172, 8429019
★★★★★
★☆☆☆☆
Found in Text Mining only
Adrenoleukodystrophy Adrenoleukodystrophy BEFREE 28263100
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Oligodendroglioma Oligodendroglioma BEFREE 8074713
★★★★★
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration BEFREE 28659708
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia Anemia BEFREE 2062846
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia, Hemolytic Anemia HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia, Sickle Cell Anemia BEFREE 9395185
★★★★★
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm, Abdominal Aortic Aneurysm BEFREE 27283739
★★★★★
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 26711138, 29673593
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only