Basic information

Full name
deoxyribonuclease 1
Ensembl
ENSG00000213918.10
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 through DNASE1*6, and the sequence of DNASE1*2 represented in this record. Mutations in this gene have been associated with systemic lupus erythematosus (SLE), an autoimmune disease. A recombinant form of this protein is used to treat the one of the symptoms of cystic fibrosis by hydrolyzing the extracellular DNA in sputum and reducing its viscosity. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]

Protein product

  • ENST00000407479.5 Primary ENSP00000385905.1 (0 phosphosite)
  • ENST00000246949.9
Phosphosites on the primary protein product
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Tumor and normal comparison

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Signed p-values
Data type
Meta P
BRCA
CCRCC
COAD
GBM
HNSCC
LSCC
LUAD
OV
PDAC
UCEC
RNA-0.016--2.1e-28---1.9e-36.6e-35.3e-20--0.031-
protein-8.3e-8---------8.3e-8-

* P-values are from Wilcoxon rank sum test and can be clicked to show the box plots. Positive values mean higher abundance in tumor. BRCA and GBM do not have normal samples.

mRNA expression at gene level
BRCACCRCCCOADGBMHNSCCLSCCLUADOVPDACUCEC67891011121314log2(RSEM+1)tumornormal
Protein expression
CCRCCLUADPDACUCEC14.51515.51616.51717.51818.51919.52020.521log2(MS1 intensity)tumornormal

* Mild outlier: filled circle; Extreme outlier: empty circle.

Phenotype and mutation association

Manhattan plot summarizing associations of phenotypes and mutations across all cohorts and omics data types

BRCACCRCCCOADGBMHNSCCLSCCLUADOVPDACUCEC02468101214160-2-4-6-8-10-12-14-16Pan-cancer0246810121416182022240-2-4-6-8-10-12-14-16-18-20-22-24proteinRNASCNVclinicalpathwaycell typegenomicmutation-log10 of P-value

* Data points of significant associations above and below the dotted lines can be hovered to show the phenotype.

Associations of the protein abundance of DNASE1 with phenotypes and mutations

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Signed p-values
Phenotype
Meta P
BRCA
CCRCC
COAD
GBM
HNSCC
LSCC
LUAD
OV
PDAC
UCEC
KINASE-PSP_CDK54.7e-8---------0.632.2e-16
PROGENy: Estrogen4.3e-3-0.18----3.5e-3-0.450.48
Clinical: Stage9.5e-3--------9.5e-3-
chromosomal instability0.037-0.4----0.22-0.340.25
KINASE-PSP_PLK10.1---------0.1
HALLMARK_NOTCH_SIGNALING0.12-9.4e-3----0.79-0.840.94
cibersort: NK cell resting0.14-0.83----0.89-0.0560.47
CDKN2A mutation0.14--------0.14-
KINASE-PSP_AMPKA1/PRKAA10.15--------0.390.25
Clinical: Path_Stage_pT0.17--------0.17-
Showing 1 to 10 of 256 rows

* P-values could be from test for Spearman correlation, Wilcoxon rank sum test, Jonckheere-Terpstra trend test or Cox regression depending on the data type. P-values for individual cohorts can be clicked to show the data plots. The matrix icons in each row can be clicked to show a heatmap summary of associations across all cohorts and omics. The rows in the table can be expanded to show results from other omics.

Cis-association

Associations between omics data of DNASE1

BRCA0.35proteinmRNASCNVmethylationCCRCC0.480.120.11proteinmRNASCNVmethylationCOAD0.24proteinmRNASCNVmethylationGBM0.18proteinmRNASCNVmethylationHNSCC0.17proteinmRNASCNVmethylationLSCC0.28proteinmRNASCNVmethylationLUAD0.32-0.620.59proteinmRNASCNVmethylationOV0.40proteinmRNASCNVmethylationPDAC0.290.020.24proteinmRNASCNVmethylationUCEC-0.220.240.18proteinmRNASCNVmethylation

* The numbers are Spearman correlation coefficients and can be clicked to show the scatter plots. The color and size of the circles correlate with the coefficients.

Trans-association

Associations of the protein abundance of DNASE1 and the protein abundance of other genes

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Signed p-values
Gene
Meta P
BRCA
CCRCC
COAD
GBM
HNSCC
LSCC
LUAD
OV
PDAC
UCEC
No matching records found

* P-values are from test for Spearman correlation. P-values for individual cohorts can be clicked to show the data plots. The matrix icons in each row can be clicked to show a heatmap summary of associations across all cohorts and omics. The rows in the table can be expanded to show results from other omics.

Gene set enrichment analysis

Submit genes and the common logarithm of the p-values of their association with to WebGestalt.