DNASE2 (deoxyribonuclease 2, lysosomal) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Gene: DNASE2 (deoxyribonuclease 2, lysosomal) Homo sapiens
Analyze
Symbol: DNASE2
Name: deoxyribonuclease 2, lysosomal
RGD ID: 1343662
HGNC Page HGNC:2960
Description: Predicted to enable deoxyribonuclease II activity. Predicted to be involved in apoptotic DNA fragmentation. Predicted to act upstream of or within DNA catabolic process; enucleate erythrocyte differentiation; and regulation of immune response. Located in extracellular exosome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: acid DNase; AIPCS; deoxyribonuclease II alpha; deoxyribonuclease II, lysosomal; deoxyribonuclease-2-alpha; DNase II alpha; DNase II, lysosomal; DNASE2A; DNL; DNL2; lysosomal DNase II; R31240_2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381912,875,209 - 12,881,449 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1912,875,209 - 12,881,595 (-)EnsemblGRCh38hg38GRCh38
GRCh371912,986,023 - 12,992,263 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361912,847,023 - 12,853,335 (-)NCBINCBI36Build 36hg18NCBI36
Build 341912,847,024 - 12,853,335NCBI
Celera1912,875,733 - 12,882,043 (-)NCBICelera
Cytogenetic Map19p13.13NCBI
HuRef1912,557,881 - 12,564,200 (-)NCBIHuRef
CHM1_11912,986,545 - 12,992,854 (-)NCBICHM1_1
T2T-CHM13v2.01912,999,693 - 13,005,938 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(1->4)-beta-D-glucan  (ISO)
(S)-nicotine  (EXP)
1,1-dichloroethene  (ISO)
1,2,4-trimethylbenzene  (ISO)
1,2-dimethylhydrazine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-naphthylamine  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
3-chloropropane-1,2-diol  (ISO)
4,4'-sulfonyldiphenol  (EXP)
4-hydroxynon-2-enal  (ISO)
5-aza-2'-deoxycytidine  (EXP)
acrylamide  (ISO)
aflatoxin B1  (ISO)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
atrazine  (EXP)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (EXP,ISO)
cadmium atom  (EXP)
carbon nanotube  (ISO)
ciguatoxin CTX1B  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
cobalt dichloride  (EXP)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
cyclosporin A  (EXP,ISO)
diazinon  (ISO)
dieldrin  (ISO)
dioxygen  (ISO)
doxorubicin  (EXP)
Enterolactone  (EXP)
entinostat  (EXP)
eugenol  (ISO)
folic acid  (ISO)
inulin  (ISO)
ivermectin  (EXP)
lead diacetate  (ISO)
lead(0)  (EXP)
lidocaine  (ISO)
N-methyl-4-phenylpyridinium  (EXP)
N-nitrosodiethylamine  (ISO)
naphthalenes  (ISO)
nickel dichloride  (ISO)
nicotine  (EXP)
O-methyleugenol  (ISO)
p-menthan-3-ol  (EXP)
paracetamol  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
permethrin  (ISO)
phenobarbital  (ISO)
pinostrobin  (EXP)
pirinixic acid  (ISO)
pyrogallol  (ISO)
resveratrol  (ISO)
Soman  (ISO)
T-2 toxin  (EXP)
temozolomide  (EXP)
tert-butyl hydroperoxide  (EXP)
tetrachloromethane  (ISO)
thapsigargin  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
triptonide  (ISO)
trovafloxacin  (ISO)
tunicamycin  (EXP)
undecane  (ISO)
valproic acid  (EXP)
Yessotoxin  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1540651   PMID:1586130   PMID:6248503   PMID:9446563   PMID:9535749   PMID:9647784   PMID:9714827   PMID:9812984   PMID:9924608   PMID:10080942   PMID:10675544   PMID:10903447  
PMID:11906178   PMID:12147225   PMID:12477932   PMID:12558498   PMID:12594037   PMID:12694199   PMID:12754519   PMID:12944971   PMID:15057824   PMID:15231747   PMID:15489334   PMID:15723160  
PMID:16303743   PMID:17192590   PMID:17353931   PMID:18812394   PMID:21873635   PMID:22268729   PMID:22939629   PMID:23019102   PMID:23376485   PMID:23533145   PMID:24162774   PMID:24242851  
PMID:25187353   PMID:26760575   PMID:27116004   PMID:28514442   PMID:28743926   PMID:28986522   PMID:29117863   PMID:29259162   PMID:29599191   PMID:31022206   PMID:33545068   PMID:33961781  
PMID:34709727   PMID:34857952   PMID:35696571   PMID:36215168  


Genomics

Comparative Map Data
DNASE2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381912,875,209 - 12,881,449 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1912,875,209 - 12,881,595 (-)EnsemblGRCh38hg38GRCh38
GRCh371912,986,023 - 12,992,263 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361912,847,023 - 12,853,335 (-)NCBINCBI36Build 36hg18NCBI36
Build 341912,847,024 - 12,853,335NCBI
Celera1912,875,733 - 12,882,043 (-)NCBICelera
Cytogenetic Map19p13.13NCBI
HuRef1912,557,881 - 12,564,200 (-)NCBIHuRef
CHM1_11912,986,545 - 12,992,854 (-)NCBICHM1_1
T2T-CHM13v2.01912,999,693 - 13,005,938 (-)NCBIT2T-CHM13v2.0
Dnase2a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39885,635,384 - 85,638,332 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl885,635,189 - 85,649,544 (+)EnsemblGRCm39 Ensembl
GRCm38884,908,755 - 84,911,703 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl884,908,560 - 84,922,915 (+)EnsemblGRCm38mm10GRCm38
MGSCv37887,432,523 - 87,435,360 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36887,798,729 - 87,801,566 (+)NCBIMGSCv36mm8
Celera889,208,019 - 89,210,856 (+)NCBICelera
Cytogenetic Map8C3NCBI
cM Map841.31NCBI
Dnase2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81940,149,505 - 40,152,225 (-)NCBIGRCr8
mRatBN7.21923,244,656 - 23,247,376 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1923,244,664 - 23,247,376 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1930,067,580 - 30,070,300 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01930,721,940 - 30,724,660 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01932,944,628 - 32,947,348 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01926,022,855 - 26,025,523 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1926,022,849 - 26,025,532 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01936,998,478 - 37,001,146 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41924,900,949 - 24,903,617 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11924,905,774 - 24,908,443 (-)NCBI
Celera1922,801,629 - 22,804,297 (-)NCBICelera
Cytogenetic Map19q11NCBI
Dnase2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541531,936,757 - 31,939,339 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541531,936,588 - 31,939,540 (-)NCBIChiLan1.0ChiLan1.0
DNASE2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22017,803,952 - 17,811,196 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11916,804,533 - 16,811,820 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01912,436,898 - 12,443,530 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11913,180,073 - 13,185,650 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1913,180,073 - 13,185,650 (-)Ensemblpanpan1.1panPan2
DNASE2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12049,299,236 - 49,301,815 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2049,299,406 - 49,301,814 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2049,171,506 - 49,174,081 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02049,816,184 - 49,818,759 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2049,816,420 - 49,821,137 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12049,027,501 - 49,030,074 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02049,453,986 - 49,456,560 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02049,696,325 - 49,698,901 (+)NCBIUU_Cfam_GSD_1.0
Dnase2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118208,408,688 - 208,411,034 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366591,941,372 - 1,946,087 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366591,943,673 - 1,945,994 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DNASE2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl266,149,862 - 66,152,855 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1266,150,071 - 66,152,857 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2266,447,511 - 66,450,524 (-)NCBISscrofa10.2Sscrofa10.2susScr3
DNASE2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1611,557,034 - 11,570,117 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl611,553,904 - 11,570,244 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660748,226,718 - 8,233,053 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Dnase2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624901464,223 - 467,161 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624901464,211 - 466,979 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in DNASE2
151 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3 copy number gain See cases [RCV000052908] Chr19:8831147..13331227 [GRCh38]
Chr19:8941823..13442041 [GRCh37]
Chr19:8802823..13303041 [NCBI36]
Chr19:19p13.2-13.13		 likely pathogenic
GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3 copy number gain See cases [RCV000052909] Chr19:10315258..14048994 [GRCh38]
Chr19:10425934..14159806 [GRCh37]
Chr19:10286934..14020806 [NCBI36]
Chr19:19p13.2-13.12		 pathogenic
GRCh38/hg38 19p13.2-13.12(chr19:12132052-14751798)x3 copy number gain See cases [RCV000052910] Chr19:12132052..14751798 [GRCh38]
Chr19:12242867..14862610 [GRCh37]
Chr19:12103867..14723610 [NCBI36]
Chr19:19p13.2-13.12		 pathogenic
GRCh38/hg38 19p13.13(chr19:12850595-13290954)x3 copy number gain See cases [RCV000052911] Chr19:12850595..13290954 [GRCh38]
Chr19:12961409..13401768 [GRCh37]
Chr19:12822409..13262768 [NCBI36]
Chr19:19p13.13		 pathogenic
GRCh38/hg38 19p13.13(chr19:12813597-13119698)x3 copy number gain See cases [RCV000054144] Chr19:12813597..13119698 [GRCh38]
Chr19:12924411..13230512 [GRCh37]
Chr19:12785411..13091512 [NCBI36]
Chr19:19p13.13		 uncertain significance
GRCh38/hg38 19p13.2-13.12(chr19:11227942-14532135)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053944]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053944]|See cases [RCV000053944] Chr19:11227942..14532135 [GRCh38]
Chr19:11338618..14642947 [GRCh37]
Chr19:11199618..14503947 [NCBI36]
Chr19:19p13.2-13.12		 pathogenic
GRCh38/hg38 19p13.2-13.13(chr19:11517825-13225287)x1 copy number loss See cases [RCV000053945] Chr19:11517825..13225287 [GRCh38]
Chr19:11628640..13336101 [GRCh37]
Chr19:11489640..13197101 [NCBI36]
Chr19:19p13.2-13.13		 pathogenic
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 copy number gain See cases [RCV000133888] Chr19:11227942..44626354 [GRCh38]
Chr19:11338618..45129651 [GRCh37]
Chr19:11199618..49821491 [NCBI36]
Chr19:19p13.2-q13.31		 pathogenic
GRCh38/hg38 19p13.2-13.12(chr19:12580427-14742673)x1 copy number loss See cases [RCV000135937] Chr19:12580427..14742673 [GRCh38]
Chr19:12691241..14853485 [GRCh37]
Chr19:12552241..14714485 [NCBI36]
Chr19:19p13.2-13.12		 pathogenic|likely pathogenic
GRCh38/hg38 19p13.2-13.12(chr19:11525163-14155021)x1 copy number loss See cases [RCV000136909] Chr19:11525163..14155021 [GRCh38]
Chr19:11635978..14265833 [GRCh37]
Chr19:11496978..14126833 [NCBI36]
Chr19:19p13.2-13.12		 pathogenic
GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1 copy number loss See cases [RCV000141568] Chr19:10319474..13777860 [GRCh38]
Chr19:10430150..13888674 [GRCh37]
Chr19:10291150..13749674 [NCBI36]
Chr19:19p13.2-13.13		 pathogenic
GRCh37/hg19 19p13.2(chr19:12204632-13497073)x1 copy number loss See cases [RCV000449161] Chr19:12204632..13497073 [GRCh37]
Chr19:19p13.2		 pathogenic
GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426) copy number gain See cases [RCV000446985] Chr19:9678768..14853426 [GRCh37]
Chr19:19p13.2-13.12		 pathogenic
GRCh37/hg19 19p13.2-13.12(chr19:12574343-14726197)x1 copy number loss See cases [RCV000511130] Chr19:12574343..14726197 [GRCh37]
Chr19:19p13.2-13.12		 pathogenic
GRCh37/hg19 19p13.2-13.12(chr19:11608072-14543046)x3 copy number gain See cases [RCV000511013] Chr19:11608072..14543046 [GRCh37]
Chr19:19p13.2-13.12		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.2(chr19:12354642-13424014)x1 copy number loss not provided [RCV000846538] Chr19:12354642..13424014 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_001375.3(DNASE2):c.965G>A (p.Gly322Asp) single nucleotide variant Systemic lupus erythematosus [RCV001250481] Chr19:12876108 [GRCh38]
Chr19:12986922 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001375.3(DNASE2):c.893G>T (p.Trp298Leu) single nucleotide variant Inborn genetic diseases [RCV003292177] Chr19:12876180 [GRCh38]
Chr19:12986994 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001375.3(DNASE2):c.1079T>G (p.Ile360Ser) single nucleotide variant DNASE2-related condition [RCV003416293]|not provided [RCV001372953] Chr19:12875994 [GRCh38]
Chr19:12986808 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001375.3(DNASE2):c.837A>G (p.Ile279Met) single nucleotide variant not provided [RCV001298881] Chr19:12876236 [GRCh38]
Chr19:12987050 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001375.3(DNASE2):c.134C>G (p.Ala45Gly) single nucleotide variant not provided [RCV001521548] Chr19:12881105 [GRCh38]
Chr19:12991919 [GRCh37]
Chr19:19p13.13		 benign|likely benign
NM_001375.3(DNASE2):c.435C>T (p.Ser145=) single nucleotide variant not provided [RCV001518014]|not specified [RCV003487370] Chr19:12878746 [GRCh38]
Chr19:12989560 [GRCh37]
Chr19:19p13.13		 benign
NM_001375.3(DNASE2):c.611A>G (p.His204Arg) single nucleotide variant not provided [RCV001510086] Chr19:12878480 [GRCh38]
Chr19:12989294 [GRCh37]
Chr19:19p13.13		 benign
NM_001375.3(DNASE2):c.843C>T (p.Phe281=) single nucleotide variant not provided [RCV001510826] Chr19:12876230 [GRCh38]
Chr19:12987044 [GRCh37]
Chr19:19p13.13		 benign
NM_001375.3(DNASE2):c.211C>T (p.Pro71Ser) single nucleotide variant not provided [RCV001517065] Chr19:12881028 [GRCh38]
Chr19:12991842 [GRCh37]
Chr19:19p13.13		 benign
NM_001375.3(DNASE2):c.267+14C>A single nucleotide variant not provided [RCV001513359] Chr19:12880958 [GRCh38]
Chr19:12991772 [GRCh37]
Chr19:19p13.13		 benign
NC_000019.9:g.(?_11277234)_(13249220_?)dup duplication not provided [RCV003105511] Chr19:11277234..13249220 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001375.3(DNASE2):c.347G>C (p.Gly116Ala) single nucleotide variant Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency [RCV002248375] Chr19:12878834 [GRCh38]
Chr19:12989648 [GRCh37]
Chr19:19p13.13		 pathogenic
NC_000019.9:g.(?_10828919)_(13482613_?)dup duplication Charcot-Marie-Tooth disease dominant intermediate B [RCV003109233]|Deficiency of alpha-mannosidase [RCV003109232]|Episodic ataxia type 2 [RCV003109234]|Glutaric aciduria, type 1 [RCV003122092] Chr19:10828919..13482613 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001375.3(DNASE2):c.414G>A (p.Pro138=) single nucleotide variant not provided [RCV001908011] Chr19:12878767 [GRCh38]
Chr19:12989581 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001375.3(DNASE2):c.812G>A (p.Trp271Ter) single nucleotide variant not provided [RCV002023978] Chr19:12876261 [GRCh38]
Chr19:12987075 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001375.3(DNASE2):c.503C>G (p.Ser168Trp) single nucleotide variant not provided [RCV001986906] Chr19:12878678 [GRCh38]
Chr19:12989492 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001375.3(DNASE2):c.86+2T>C single nucleotide variant not provided [RCV002044809] Chr19:12881288 [GRCh38]
Chr19:12992102 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001375.3(DNASE2):c.636C>A (p.Asn212Lys) single nucleotide variant not provided [RCV002025621] Chr19:12878455 [GRCh38]
Chr19:12989269 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001375.3(DNASE2):c.128A>G (p.Glu43Gly) single nucleotide variant not provided [RCV002040930] Chr19:12881111 [GRCh38]
Chr19:12991925 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001375.3(DNASE2):c.709+4A>T single nucleotide variant DNASE2-related condition [RCV003408083]|not provided [RCV002042996] Chr19:12878378 [GRCh38]
Chr19:12989192 [GRCh37]
Chr19:19p13.13		 uncertain significance
GRCh37/hg19 19p13.2-13.12(chr19:12697728-14111313)x1 copy number loss not provided [RCV001834482] Chr19:12697728..14111313 [GRCh37]
Chr19:19p13.2-13.12		 pathogenic
NM_001375.3(DNASE2):c.425C>T (p.Ala142Val) single nucleotide variant not provided [RCV001966242] Chr19:12878756 [GRCh38]
Chr19:12989570 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001375.3(DNASE2):c.156G>C (p.Lys52Asn) single nucleotide variant not provided [RCV001966787] Chr19:12881083 [GRCh38]
Chr19:12991897 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001375.3(DNASE2):c.995C>A (p.Ala332Asp) single nucleotide variant Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency [RCV003146462]|not provided [RCV001984235] Chr19:12876078 [GRCh38]
Chr19:12986892 [GRCh37]
Chr19:19p13.13		 uncertain significance
NC_000019.9:g.(?_12757434)_(13617038_?)del deletion Episodic ataxia type 2 [RCV001953618]|Glutaric aciduria, type 1 [RCV001947065] Chr19:12757434..13617038 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_001375.3(DNASE2):c.962G>A (p.Arg321Gln) single nucleotide variant not provided [RCV001891468] Chr19:12876111 [GRCh38]
Chr19:12986925 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001375.3(DNASE2):c.721G>A (p.Gly241Ser) single nucleotide variant Inborn genetic diseases [RCV003269093]|not provided [RCV002043194] Chr19:12876352 [GRCh38]
Chr19:12987166 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001375.3(DNASE2):c.172_174del (p.Ser58del) deletion not provided [RCV002043716] Chr19:12881065..12881067 [GRCh38]
Chr19:12991879..12991881 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001375.3(DNASE2):c.941G>A (p.Arg314Gln) single nucleotide variant not provided [RCV002044391] Chr19:12876132 [GRCh38]
Chr19:12986946 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001375.3(DNASE2):c.647C>T (p.Thr216Ile) single nucleotide variant not provided [RCV002042001] Chr19:12878444 [GRCh38]
Chr19:12989258 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001375.3(DNASE2):c.403T>C (p.Phe135Leu) single nucleotide variant not provided [RCV001985552] Chr19:12878778 [GRCh38]
Chr19:12989592 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001375.3(DNASE2):c.940C>T (p.Arg314Trp) single nucleotide variant not provided [RCV002038852] Chr19:12876133 [GRCh38]
Chr19:12986947 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001375.3(DNASE2):c.621C>G (p.Ser207Arg) single nucleotide variant not provided [RCV001887196] Chr19:12878470 [GRCh38]
Chr19:12989284 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001375.3(DNASE2):c.1021G>T (p.Val341Leu) single nucleotide variant not provided [RCV001999336] Chr19:12876052 [GRCh38]
Chr19:12986866 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001375.3(DNASE2):c.626A>G (p.Glu209Gly) single nucleotide variant not provided [RCV002017635] Chr19:12878465 [GRCh38]
Chr19:12989279 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001375.3(DNASE2):c.856G>A (p.Gly286Ser) single nucleotide variant not provided [RCV001980765] Chr19:12876217 [GRCh38]
Chr19:12987031 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001375.3(DNASE2):c.121T>G (p.Ser41Ala) single nucleotide variant Inborn genetic diseases [RCV002545792]|not provided [RCV001887751] Chr19:12881118 [GRCh38]
Chr19:12991932 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001375.3(DNASE2):c.477T>G (p.Cys159Trp) single nucleotide variant Inborn genetic diseases [RCV002545711]|not provided [RCV002047250] Chr19:12878704 [GRCh38]
Chr19:12989518 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001375.3(DNASE2):c.413C>T (p.Pro138Leu) single nucleotide variant not provided [RCV001951896] Chr19:12878768 [GRCh38]
Chr19:12989582 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001375.3(DNASE2):c.287A>G (p.Asn96Ser) single nucleotide variant not provided [RCV001995041] Chr19:12880861 [GRCh38]
Chr19:12991675 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001375.3(DNASE2):c.905C>T (p.Pro302Leu) single nucleotide variant not provided [RCV001972981] Chr19:12876168 [GRCh38]
Chr19:12986982 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001375.3(DNASE2):c.925G>T (p.Val309Leu) single nucleotide variant not provided [RCV001989054] Chr19:12876148 [GRCh38]
Chr19:12986962 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001375.3(DNASE2):c.250C>T (p.Arg84Trp) single nucleotide variant not provided [RCV001995397] Chr19:12880989 [GRCh38]
Chr19:12991803 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001375.3(DNASE2):c.206A>G (p.Asn69Ser) single nucleotide variant not provided [RCV001960229] Chr19:12881033 [GRCh38]
Chr19:12991847 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001375.3(DNASE2):c.106C>T (p.Pro36Ser) single nucleotide variant not provided [RCV001867140] Chr19:12881133 [GRCh38]
Chr19:12991947 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001375.3(DNASE2):c.685_686delinsCT (p.Ala229Leu) indel not provided [RCV002014363] Chr19:12878405..12878406 [GRCh38]
Chr19:12989219..12989220 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001375.3(DNASE2):c.503C>T (p.Ser168Leu) single nucleotide variant not provided [RCV001932506] Chr19:12878678 [GRCh38]
Chr19:12989492 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001375.3(DNASE2):c.925G>A (p.Val309Met) single nucleotide variant not provided [RCV002047021] Chr19:12876148 [GRCh38]
Chr19:12986962 [GRCh37]
Chr19:19p13.13		 uncertain significance
NC_000019.9:g.(?_12991596)_(12992189_?)del deletion not provided [RCV001973188] Chr19:12991596..12992189 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001375.3(DNASE2):c.1016C>T (p.Pro339Leu) single nucleotide variant Inborn genetic diseases [RCV002543476]|not provided [RCV002030015] Chr19:12876057 [GRCh38]
Chr19:12986871 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001375.3(DNASE2):c.385del (p.Val129fs) deletion not provided [RCV002013640] Chr19:12878796 [GRCh38]
Chr19:12989610 [GRCh37]
Chr19:19p13.13		 uncertain significance
NC_000019.9:g.(?_12917488)_(13205463_?)del deletion not provided [RCV002016875] Chr19:12917488..13205463 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001375.3(DNASE2):c.183G>A (p.Trp61Ter) single nucleotide variant not provided [RCV002034182] Chr19:12881056 [GRCh38]
Chr19:12991870 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001375.3(DNASE2):c.511+5G>A single nucleotide variant not provided [RCV001997776] Chr19:12878665 [GRCh38]
Chr19:12989479 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001375.3(DNASE2):c.487C>T (p.Pro163Ser) single nucleotide variant not provided [RCV002036704] Chr19:12878694 [GRCh38]
Chr19:12989508 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001375.3(DNASE2):c.510G>A (p.Met170Ile) single nucleotide variant Inborn genetic diseases [RCV002552135]|not provided [RCV001883058] Chr19:12878671 [GRCh38]
Chr19:12989485 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NM_001375.3(DNASE2):c.804G>A (p.Ser268=) single nucleotide variant not provided [RCV001953376] Chr19:12876269 [GRCh38]
Chr19:12987083 [GRCh37]
Chr19:19p13.13		 likely benign|uncertain significance
NC_000019.9:g.(?_12757434)_(13373667_?)del deletion Aicardi-Goutieres syndrome 4 [RCV001923352]|Episodic ataxia type 2 [RCV001923351]|not provided [RCV001923353] Chr19:12757434..13373667 [GRCh37]
Chr19:19p13.2		 pathogenic|uncertain significance
NM_001375.3(DNASE2):c.512-12C>T single nucleotide variant not provided [RCV002085598] Chr19:12878591 [GRCh38]
Chr19:12989405 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001375.3(DNASE2):c.153C>T (p.Tyr51=) single nucleotide variant not provided [RCV002109288] Chr19:12881086 [GRCh38]
Chr19:12991900 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001375.3(DNASE2):c.284A>G (p.Tyr95Cys) single nucleotide variant Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency [RCV002248377] Chr19:12880864 [GRCh38]
Chr19:12991678 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001375.3(DNASE2):c.511+8G>A single nucleotide variant not provided [RCV002088037] Chr19:12878662 [GRCh38]
Chr19:12989476 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001375.3(DNASE2):c.268-17C>G single nucleotide variant not provided [RCV002213732] Chr19:12880897 [GRCh38]
Chr19:12991711 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001375.3(DNASE2):c.504G>A (p.Ser168=) single nucleotide variant not provided [RCV002214001] Chr19:12878677 [GRCh38]
Chr19:12989491 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001375.3(DNASE2):c.774A>G (p.Lys258=) single nucleotide variant not provided [RCV002216052] Chr19:12876299 [GRCh38]
Chr19:12987113 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001375.3(DNASE2):c.1017G>A (p.Pro339=) single nucleotide variant not provided [RCV002095433] Chr19:12876056 [GRCh38]
Chr19:12986870 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001375.3(DNASE2):c.900G>A (p.Val300=) single nucleotide variant not provided [RCV002074562] Chr19:12876173 [GRCh38]
Chr19:12986987 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001375.3(DNASE2):c.86+19dup duplication not provided [RCV002212918] Chr19:12881270..12881271 [GRCh38]
Chr19:12992084..12992085 [GRCh37]
Chr19:19p13.13		 benign
NM_001375.3(DNASE2):c.663C>T (p.Ala221=) single nucleotide variant not provided [RCV002099545] Chr19:12878428 [GRCh38]
Chr19:12989242 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001375.3(DNASE2):c.459C>T (p.Tyr153=) single nucleotide variant not provided [RCV002220666] Chr19:12878722 [GRCh38]
Chr19:12989536 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001375.3(DNASE2):c.346+16G>A single nucleotide variant not provided [RCV002157624] Chr19:12880786 [GRCh38]
Chr19:12991600 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001375.3(DNASE2):c.897C>T (p.Cys299=) single nucleotide variant not provided [RCV002201465] Chr19:12876176 [GRCh38]
Chr19:12986990 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001375.3(DNASE2):c.710-19C>T single nucleotide variant not provided [RCV002177448] Chr19:12876382 [GRCh38]
Chr19:12987196 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001375.3(DNASE2):c.709+19G>T single nucleotide variant not provided [RCV002161384] Chr19:12878363 [GRCh38]
Chr19:12989177 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001375.3(DNASE2):c.87-20G>A single nucleotide variant not provided [RCV002144629] Chr19:12881172 [GRCh38]
Chr19:12991986 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001375.3(DNASE2):c.616G>A (p.Val206Ile) single nucleotide variant not provided [RCV002154746] Chr19:12878475 [GRCh38]
Chr19:12989289 [GRCh37]
Chr19:19p13.13		 benign
NM_001375.3(DNASE2):c.873C>T (p.Ser291=) single nucleotide variant not provided [RCV002202586] Chr19:12876200 [GRCh38]
Chr19:12987014 [GRCh37]
Chr19:19p13.13		 likely benign
NC_000019.9:g.(?_12917488)_(13010355_?)dup duplication Aicardi-Goutieres syndrome 4 [RCV003109514] Chr19:12917488..13010355 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001375.3(DNASE2):c.585C>T (p.Pro195=) single nucleotide variant not provided [RCV003115194] Chr19:12878506 [GRCh38]
Chr19:12989320 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001375.3(DNASE2):c.157T>C (p.Tyr53His) single nucleotide variant Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency [RCV003325260] Chr19:12881082 [GRCh38]
Chr19:12991896 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001375.3(DNASE2):c.362A>T (p.Asp121Val) single nucleotide variant Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency [RCV002248376] Chr19:12878819 [GRCh38]
Chr19:12989633 [GRCh37]
Chr19:19p13.13		 pathogenic
NM_001375.3(DNASE2):c.243G>A (p.Pro81=) single nucleotide variant not provided [RCV003014051] Chr19:12880996 [GRCh38]
Chr19:12991810 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001375.3(DNASE2):c.1060C>G (p.Pro354Ala) single nucleotide variant not provided [RCV002838130] Chr19:12876013 [GRCh38]
Chr19:12986827 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001375.3(DNASE2):c.254G>A (p.Ser85Asn) single nucleotide variant not provided [RCV002731116] Chr19:12880985 [GRCh38]
Chr19:12991799 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001375.3(DNASE2):c.709+9C>T single nucleotide variant not provided [RCV002755201] Chr19:12878373 [GRCh38]
Chr19:12989187 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001375.3(DNASE2):c.1040G>A (p.Cys347Tyr) single nucleotide variant not provided [RCV002636059] Chr19:12876033 [GRCh38]
Chr19:12986847 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001375.3(DNASE2):c.235C>T (p.Leu79=) single nucleotide variant not provided [RCV002903299] Chr19:12881004 [GRCh38]
Chr19:12991818 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001375.3(DNASE2):c.808A>G (p.Ile270Val) single nucleotide variant not provided [RCV002971421] Chr19:12876265 [GRCh38]
Chr19:12987079 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001375.3(DNASE2):c.127G>C (p.Glu43Gln) single nucleotide variant not provided [RCV002730247] Chr19:12881112 [GRCh38]
Chr19:12991926 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001375.3(DNASE2):c.47C>A (p.Ala16Asp) single nucleotide variant not provided [RCV002971620] Chr19:12881329 [GRCh38]
Chr19:12992143 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001375.3(DNASE2):c.533A>G (p.Tyr178Cys) single nucleotide variant not provided [RCV002882099] Chr19:12878558 [GRCh38]
Chr19:12989372 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001375.3(DNASE2):c.434_435delinsTT (p.Ser145Ile) indel not provided [RCV002991728] Chr19:12878746..12878747 [GRCh38]
Chr19:12989560..12989561 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001375.3(DNASE2):c.542T>C (p.Val181Ala) single nucleotide variant not provided [RCV003020256] Chr19:12878549 [GRCh38]
Chr19:12989363 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001375.3(DNASE2):c.509T>C (p.Met170Thr) single nucleotide variant Inborn genetic diseases [RCV002952369]|not provided [RCV002952368] Chr19:12878672 [GRCh38]
Chr19:12989486 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001375.3(DNASE2):c.86+20C>G single nucleotide variant not provided [RCV002824068] Chr19:12881270 [GRCh38]
Chr19:12992084 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001375.3(DNASE2):c.268-9C>T single nucleotide variant not provided [RCV002923504] Chr19:12880889 [GRCh38]
Chr19:12991703 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001375.3(DNASE2):c.288T>G (p.Asn96Lys) single nucleotide variant not provided [RCV002825128] Chr19:12880860 [GRCh38]
Chr19:12991674 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001375.3(DNASE2):c.552C>G (p.Tyr184Ter) single nucleotide variant not provided [RCV003020907] Chr19:12878539 [GRCh38]
Chr19:12989353 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001375.3(DNASE2):c.102G>C (p.Lys34Asn) single nucleotide variant not provided [RCV002999854] Chr19:12881137 [GRCh38]
Chr19:12991951 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001375.3(DNASE2):c.565A>T (p.Ile189Phe) single nucleotide variant not provided [RCV002780561] Chr19:12878526 [GRCh38]
Chr19:12989340 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001375.3(DNASE2):c.421T>C (p.Ser141Pro) single nucleotide variant not provided [RCV002824571] Chr19:12878760 [GRCh38]
Chr19:12989574 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001375.3(DNASE2):c.911G>A (p.Gly304Glu) single nucleotide variant not provided [RCV003018383] Chr19:12876162 [GRCh38]
Chr19:12986976 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001375.3(DNASE2):c.86+15G>C single nucleotide variant not provided [RCV002574110] Chr19:12881275 [GRCh38]
Chr19:12992089 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001375.3(DNASE2):c.1016C>A (p.Pro339Gln) single nucleotide variant not provided [RCV003024881] Chr19:12876057 [GRCh38]
Chr19:12986871 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001375.3(DNASE2):c.1008C>T (p.Ala336=) single nucleotide variant not provided [RCV002765852] Chr19:12876065 [GRCh38]
Chr19:12986879 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001375.3(DNASE2):c.821T>G (p.Leu274Arg) single nucleotide variant Inborn genetic diseases [RCV003170721]|not provided [RCV002953942] Chr19:12876252 [GRCh38]
Chr19:12987066 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001375.3(DNASE2):c.575A>C (p.Gln192Pro) single nucleotide variant not provided [RCV003041357] Chr19:12878516 [GRCh38]
Chr19:12989330 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001375.3(DNASE2):c.601G>A (p.Val201Ile) single nucleotide variant not provided [RCV002594302] Chr19:12878490 [GRCh38]
Chr19:12989304 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001375.3(DNASE2):c.377T>A (p.Phe126Tyr) single nucleotide variant not provided [RCV003025231] Chr19:12878804 [GRCh38]
Chr19:12989618 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001375.3(DNASE2):c.1050G>A (p.Met350Ile) single nucleotide variant Inborn genetic diseases [RCV002916213] Chr19:12876023 [GRCh38]
Chr19:12986837 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001375.3(DNASE2):c.493G>A (p.Ala165Thr) single nucleotide variant not provided [RCV002790314] Chr19:12878688 [GRCh38]
Chr19:12989502 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001375.3(DNASE2):c.280C>T (p.Leu94Phe) single nucleotide variant not provided [RCV002701440] Chr19:12880868 [GRCh38]
Chr19:12991682 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001375.3(DNASE2):c.86+19del deletion not provided [RCV002667663] Chr19:12881271 [GRCh38]
Chr19:12992085 [GRCh37]
Chr19:19p13.13		 benign
NM_001375.3(DNASE2):c.625G>T (p.Glu209Ter) single nucleotide variant not provided [RCV002985736] Chr19:12878466 [GRCh38]
Chr19:12989280 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001375.3(DNASE2):c.450C>T (p.Ala150=) single nucleotide variant not provided [RCV002595266] Chr19:12878731 [GRCh38]
Chr19:12989545 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001375.3(DNASE2):c.168G>C (p.Glu56Asp) single nucleotide variant Inborn genetic diseases [RCV002641644] Chr19:12881071 [GRCh38]
Chr19:12991885 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001375.3(DNASE2):c.342G>A (p.Thr114=) single nucleotide variant not provided [RCV002985373] Chr19:12880806 [GRCh38]
Chr19:12991620 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001375.3(DNASE2):c.298C>T (p.Pro100Ser) single nucleotide variant not provided [RCV002631869] Chr19:12880850 [GRCh38]
Chr19:12991664 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001375.3(DNASE2):c.876A>G (p.Thr292=) single nucleotide variant not provided [RCV003029241] Chr19:12876197 [GRCh38]
Chr19:12987011 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001375.3(DNASE2):c.653C>T (p.Thr218Ile) single nucleotide variant not provided [RCV002601273] Chr19:12878438 [GRCh38]
Chr19:12989252 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001375.3(DNASE2):c.448G>A (p.Ala150Thr) single nucleotide variant not provided [RCV002577964] Chr19:12878733 [GRCh38]
Chr19:12989547 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001375.3(DNASE2):c.664G>A (p.Gly222Arg) single nucleotide variant not provided [RCV002937585] Chr19:12878427 [GRCh38]
Chr19:12989241 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001375.3(DNASE2):c.230G>A (p.Arg77Gln) single nucleotide variant not provided [RCV003030099] Chr19:12881009 [GRCh38]
Chr19:12991823 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001375.3(DNASE2):c.630C>T (p.Pro210=) single nucleotide variant not provided [RCV002598020] Chr19:12878461 [GRCh38]
Chr19:12989275 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001375.3(DNASE2):c.740T>G (p.Leu247Arg) single nucleotide variant Inborn genetic diseases [RCV002939855] Chr19:12876333 [GRCh38]
Chr19:12987147 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001375.3(DNASE2):c.309C>G (p.Ser103Arg) single nucleotide variant not provided [RCV002899573] Chr19:12880839 [GRCh38]
Chr19:12991653 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001375.3(DNASE2):c.996C>T (p.Ala332=) single nucleotide variant not provided [RCV002938776] Chr19:12876077 [GRCh38]
Chr19:12986891 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001375.3(DNASE2):c.366C>T (p.His122=) single nucleotide variant not provided [RCV002582643] Chr19:12878815 [GRCh38]
Chr19:12989629 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001375.3(DNASE2):c.400A>C (p.Asn134His) single nucleotide variant not provided [RCV002725289] Chr19:12878781 [GRCh38]
Chr19:12989595 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001375.3(DNASE2):c.961C>T (p.Arg321Trp) single nucleotide variant not provided [RCV003093561] Chr19:12876112 [GRCh38]
Chr19:12986926 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001375.3(DNASE2):c.141A>G (p.Arg47=) single nucleotide variant not provided [RCV002603879] Chr19:12881098 [GRCh38]
Chr19:12991912 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001375.3(DNASE2):c.297G>T (p.Pro99=) single nucleotide variant not provided [RCV002653178] Chr19:12880851 [GRCh38]
Chr19:12991665 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001375.3(DNASE2):c.1020G>A (p.Leu340=) single nucleotide variant not provided [RCV002681072] Chr19:12876053 [GRCh38]
Chr19:12986867 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001375.3(DNASE2):c.898G>A (p.Val300Met) single nucleotide variant not provided [RCV003050528] Chr19:12876175 [GRCh38]
Chr19:12986989 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001375.3(DNASE2):c.512-15C>T single nucleotide variant not provided [RCV002584454] Chr19:12878594 [GRCh38]
Chr19:12989408 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001375.3(DNASE2):c.777T>C (p.Thr259=) single nucleotide variant not provided [RCV002605228] Chr19:12876296 [GRCh38]
Chr19:12987110 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001375.3(DNASE2):c.830A>G (p.Asn277Ser) single nucleotide variant Inborn genetic diseases [RCV003220075] Chr19:12876243 [GRCh38]
Chr19:12987057 [GRCh37]
Chr19:19p13.13		 uncertain significance
GRCh37/hg19 19p13.2(chr19:12281048-13573342)x3 copy number gain not provided [RCV003485193] Chr19:12281048..13573342 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_001375.3(DNASE2):c.330G>A (p.Met110Ile) single nucleotide variant DNASE2-related condition [RCV003411979] Chr19:12880818 [GRCh38]
Chr19:12991632 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001375.3(DNASE2):c.463C>G (p.Gln155Glu) single nucleotide variant DNASE2-related condition [RCV003403107] Chr19:12878718 [GRCh38]
Chr19:12989532 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001375.3(DNASE2):c.71G>A (p.Gly24Glu) single nucleotide variant DNASE2-related condition [RCV003399930] Chr19:12881305 [GRCh38]
Chr19:12992119 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001375.3(DNASE2):c.511+15G>A single nucleotide variant not provided [RCV003544424] Chr19:12878655 [GRCh38]
Chr19:12989469 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001375.3(DNASE2):c.12G>A (p.Leu4=) single nucleotide variant not provided [RCV003575413] Chr19:12881364 [GRCh38]
Chr19:12992178 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001375.3(DNASE2):c.86+9G>C single nucleotide variant not provided [RCV003661934] Chr19:12881281 [GRCh38]
Chr19:12992095 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001375.3(DNASE2):c.111T>C (p.Ala37=) single nucleotide variant not provided [RCV003882595] Chr19:12881128 [GRCh38]
Chr19:12991942 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001375.3(DNASE2):c.512-11T>G single nucleotide variant not provided [RCV003544846] Chr19:12878590 [GRCh38]
Chr19:12989404 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001375.3(DNASE2):c.11T>C (p.Leu4Pro) single nucleotide variant not provided [RCV003579826] Chr19:12881365 [GRCh38]
Chr19:12992179 [GRCh37]
Chr19:19p13.13		 uncertain significance
NM_001375.3(DNASE2):c.912G>T (p.Gly304=) single nucleotide variant not provided [RCV003659514] Chr19:12876161 [GRCh38]
Chr19:12986975 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001375.3(DNASE2):c.346+13T>C single nucleotide variant not provided [RCV003817654] Chr19:12880789 [GRCh38]
Chr19:12991603 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001375.3(DNASE2):c.174C>T (p.Ser58=) single nucleotide variant not provided [RCV003671300] Chr19:12881065 [GRCh38]
Chr19:12991879 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001375.3(DNASE2):c.393T>C (p.Ser131=) single nucleotide variant not provided [RCV003703318] Chr19:12878788 [GRCh38]
Chr19:12989602 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001375.3(DNASE2):c.30G>A (p.Leu10=) single nucleotide variant not provided [RCV003837943] Chr19:12881346 [GRCh38]
Chr19:12992160 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001375.3(DNASE2):c.720C>T (p.Ser240=) single nucleotide variant not provided [RCV003819608] Chr19:12876353 [GRCh38]
Chr19:12987167 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001375.3(DNASE2):c.492C>T (p.Phe164=) single nucleotide variant not provided [RCV003846222] Chr19:12878689 [GRCh38]
Chr19:12989503 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001375.3(DNASE2):c.615C>T (p.His205=) single nucleotide variant not provided [RCV003859712] Chr19:12878476 [GRCh38]
Chr19:12989290 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001375.3(DNASE2):c.15G>T (p.Leu5=) single nucleotide variant not provided [RCV003682306] Chr19:12881361 [GRCh38]
Chr19:12992175 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001375.3(DNASE2):c.512-6del deletion not provided [RCV003732739] Chr19:12878585 [GRCh38]
Chr19:12989399 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001375.3(DNASE2):c.189C>T (p.Asp63=) single nucleotide variant not provided [RCV003722462] Chr19:12881050 [GRCh38]
Chr19:12991864 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001375.3(DNASE2):c.511+16G>A single nucleotide variant not provided [RCV003853443] Chr19:12878654 [GRCh38]
Chr19:12989468 [GRCh37]
Chr19:19p13.13		 likely benign
GRCh37/hg19 19p13.2(chr19:10441330-13077352)x1 copy number loss not specified [RCV003986120] Chr19:10441330..13077352 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_001375.3(DNASE2):c.709+20G>C single nucleotide variant not provided [RCV003721434] Chr19:12878362 [GRCh38]
Chr19:12989176 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001375.3(DNASE2):c.86+15G>A single nucleotide variant not provided [RCV003861300] Chr19:12881275 [GRCh38]
Chr19:12992089 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001375.3(DNASE2):c.86+9G>T single nucleotide variant not provided [RCV003708040] Chr19:12881281 [GRCh38]
Chr19:12992095 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001375.3(DNASE2):c.879G>A (p.Glu293=) single nucleotide variant not provided [RCV003542225] Chr19:12876194 [GRCh38]
Chr19:12987008 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001375.3(DNASE2):c.417C>A (p.Ala139=) single nucleotide variant not provided [RCV003551305] Chr19:12878764 [GRCh38]
Chr19:12989578 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001375.3(DNASE2):c.168G>A (p.Glu56=) single nucleotide variant not provided [RCV003674907] Chr19:12881071 [GRCh38]
Chr19:12991885 [GRCh37]
Chr19:19p13.13		 likely benign
NM_001375.3(DNASE2):c.945C>T (p.Asn315=) single nucleotide variant not provided [RCV003823047] Chr19:12876128 [GRCh38]
Chr19:12986942 [GRCh37]
Chr19:19p13.13		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1229
Count of miRNA genes:651
Interacting mature miRNAs:735
Transcripts:ENST00000222219, ENST00000538460, ENST00000586547, ENST00000588777, ENST00000592506
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
RH44826  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371912,986,552 - 12,986,658UniSTSGRCh37
Build 361912,847,552 - 12,847,658RGDNCBI36
Celera1912,876,260 - 12,876,366RGD
Cytogenetic Map19p13.2UniSTS
HuRef1912,558,408 - 12,558,514UniSTS
GeneMap99-GB4 RH Map1973.28UniSTS
NCBI RH Map1987.9UniSTS
RH65998  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371912,986,060 - 12,986,182UniSTSGRCh37
Build 361912,847,060 - 12,847,182RGDNCBI36
Celera1912,875,768 - 12,875,890RGD
Cytogenetic Map19p13.2UniSTS
HuRef1912,557,916 - 12,558,038UniSTS
GeneMap99-GB4 RH Map1972.77UniSTS
D15S1477  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4q32-q35UniSTS
Cytogenetic Map5q11UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map16p13.13-p13.12UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map13q12.1UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map2q31UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map19pUniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q11.21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map1q31.3UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map6q25.2-q25.3UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map3p25-p24UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map3p12UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map6p21.1-p12.2UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map14q11.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map9p22UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map9p22.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2p24UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map15q21-q23UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map11q12UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map11q23.2UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map22q12UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map11q23.1-q23.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map17qUniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map6p24.2UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 3
Medium 2427 2717 1670 579 1866 420 4063 1717 3126 393 1260 1606 173 1 1203 2494 6 2
Low 12 274 56 45 84 45 294 480 607 26 197 6 2 1 294
Below cutoff 1 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB004574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB008564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB008565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB031422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC020934 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AD000092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF045937 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF047016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF060222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC065209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT007047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX394955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ752529 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000222219   ⟹   ENSP00000222219
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1912,875,209 - 12,881,449 (-)Ensembl
RefSeq Acc Id: ENST00000586547
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1912,878,038 - 12,878,834 (-)Ensembl
RefSeq Acc Id: ENST00000588777
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1912,875,936 - 12,878,680 (-)Ensembl
RefSeq Acc Id: ENST00000592506   ⟹   ENSP00000466912
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1912,875,517 - 12,881,466 (-)Ensembl
RefSeq Acc Id: ENST00000698691
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1912,875,236 - 12,881,495 (-)Ensembl
RefSeq Acc Id: ENST00000698692
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1912,875,241 - 12,880,059 (-)Ensembl
RefSeq Acc Id: ENST00000698693   ⟹   ENSP00000513874
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1912,875,389 - 12,881,595 (-)Ensembl
RefSeq Acc Id: NM_001375   ⟹   NP_001366
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381912,875,209 - 12,881,449 (-)NCBI
GRCh371912,986,025 - 12,992,409 (-)NCBI
Build 361912,847,023 - 12,853,335 (-)NCBI Archive
HuRef1912,557,881 - 12,564,200 (-)ENTREZGENE
CHM1_11912,986,545 - 12,992,854 (-)NCBI
T2T-CHM13v2.01912,999,693 - 13,005,938 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_001366   ⟸   NM_001375
- Peptide Label: precursor
- UniProtKB: B7Z4K6 (UniProtKB/Swiss-Prot),   B2RD06 (UniProtKB/Swiss-Prot),   O43910 (UniProtKB/Swiss-Prot),   O00115 (UniProtKB/Swiss-Prot),   B3KQS9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000222219   ⟸   ENST00000222219
RefSeq Acc Id: ENSP00000466912   ⟸   ENST00000592506
RefSeq Acc Id: ENSP00000513874   ⟸   ENST00000698693

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O00115-F1-model_v2 AlphaFold O00115 1-360 view protein structure

Promoters
RGD ID:6795344
Promoter ID:HG_KWN:29036
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000222219
Position:
Human AssemblyChrPosition (strand)Source
Build 361912,853,074 - 12,853,574 (-)MPROMDB
RGD ID:6852266
Promoter ID:EP73939
Type:initiation region
Name:HS_DNASE2
Description:Deoxyribonuclease II, lysosomal.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 361912,853,213 - 12,853,273EPD
RGD ID:7238741
Promoter ID:EPDNEW_H25116
Type:initiation region
Name:DNASE2_1
Description:deoxyribonuclease 2, lysosomal
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381912,881,449 - 12,881,509EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2960 AgrOrtholog
COSMIC DNASE2 COSMIC
Ensembl Genes ENSG00000105612 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000222219 ENTREZGENE
  ENST00000222219.8 UniProtKB/Swiss-Prot
  ENST00000592506.1 UniProtKB/TrEMBL
  ENST00000592506.2 UniProtKB/Swiss-Prot
  ENST00000698693.1 UniProtKB/TrEMBL
GTEx ENSG00000105612 GTEx
HGNC ID HGNC:2960 ENTREZGENE
Human Proteome Map DNASE2 Human Proteome Map
InterPro DNase_II UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1777 UniProtKB/Swiss-Prot
NCBI Gene 1777 ENTREZGENE
OMIM 126350 OMIM
PANTHER DEOXYRIBONUCLEASE-2-ALPHA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10858 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DNase_II UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27431 PharmGKB
UniProt A0A8V8TNK3_HUMAN UniProtKB/TrEMBL
  B2RD06 ENTREZGENE
  B3KQS9 ENTREZGENE, UniProtKB/TrEMBL
  B7Z4K6 ENTREZGENE
  DNS2A_HUMAN UniProtKB/Swiss-Prot
  K7ENE5_HUMAN UniProtKB/TrEMBL
  O00115 ENTREZGENE
  O43910 ENTREZGENE
  Q96TC5_HUMAN UniProtKB/TrEMBL
  Q9H3R9_HUMAN UniProtKB/TrEMBL
UniProt Secondary B2RD06 UniProtKB/Swiss-Prot
  B7Z4K6 UniProtKB/Swiss-Prot
  O43910 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-07-26 DNASE2  deoxyribonuclease 2, lysosomal  DNASE2  deoxyribonuclease II, lysosomal  Symbol and/or name change 5135510 APPROVED