NOX1 (NADPH oxidase 1) - Rat Genome Database

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Gene: NOX1 (NADPH oxidase 1) Homo sapiens
Analyze
Symbol: NOX1
Name: NADPH oxidase 1
RGD ID: 732308
HGNC Page HGNC:7889
Description: Enables small GTPase binding activity and superoxide-generating NAD(P)H oxidase activity. Involved in several processes, including cellular stress response to acidic pH; positive regulation of macromolecule biosynthetic process; and superoxide anion generation. Located in early endosome and plasma membrane. Part of NADPH oxidase complex. Biomarker of multiple myeloma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: GP91-2; mitogenic oxidase (pyridine nucleotide-dependent superoxide-generating); mitogenic oxidase 1; MOX-1; MOX1; NADH/NADPH mitogenic oxidase subunit P65-MOX; NADPH oxidase 1 variant NOH-1L; NADPH oxidase homolog-1; NOH-1; NOH-1L; NOH1; NOX-1
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
GRCh38X100,843,324 - 100,874,359 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX100,843,324 - 100,874,359 (-)EnsemblGRCh38hg38GRCh38
GRCh37X100,098,313 - 100,129,348 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X99,984,969 - 100,015,990 (-)NCBINCBI36Build 36hg18NCBI36
Build 34X99,904,969 - 99,935,343NCBI
CeleraX100,617,105 - 100,648,120 (-)NCBICelera
Cytogenetic MapXq22.1NCBI
HuRefX89,897,075 - 89,927,719 (-)NCBIHuRef
CHM1_1X99,991,243 - 100,022,267 (-)NCBICHM1_1
T2T-CHM13v2.0X99,285,862 - 99,317,015 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(R)-lipoic acid  (ISO)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (EXP)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1,4-benzoquinone  (ISO)
11-deoxycorticosterone  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
5'-phosphopyridoxal-6-azobenzene-2,4-disulfonic acid  (ISO)
acteoside  (EXP)
adenine  (ISO)
Adiponectin  (EXP)
aflatoxin B1  (EXP)
aldehydo-D-glucose  (ISO)
amlodipine  (ISO)
amphetamine  (ISO)
anthra[1,9-cd]pyrazol-6(2H)-one  (ISO)
apocynin  (EXP,ISO)
arachidonic acid  (EXP)
arsane  (EXP,ISO)
arsenic atom  (EXP,ISO)
arsenous acid  (EXP)
aspartame  (ISO)
atorvastatin calcium  (ISO)
benzo[a]pyrene  (ISO)
benzo[b]fluoranthene  (ISO)
bisphenol A  (EXP,ISO)
BQ 123  (ISO)
butanal  (EXP)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
calcitriol  (EXP)
calcium atom  (ISO)
calcium(0)  (ISO)
camostat  (ISO)
candesartan  (ISO)
carnosic acid  (ISO)
carvacrol  (EXP,ISO)
carvedilol  (ISO)
celecoxib  (ISO)
CGP-42112A  (ISO)
chlorpyrifos  (ISO)
chromium(6+)  (EXP,ISO)
cisplatin  (ISO)
cobalt dichloride  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
crystal violet  (EXP)
D-glucose  (ISO)
DDE  (EXP)
decabromodiphenyl ether  (ISO)
Deoxycorticosterone acetate  (ISO)
diarsenic trioxide  (EXP)
dibenziodolium  (EXP,ISO)
diclofenac  (ISO)
dieldrin  (ISO)
diminazene diaceturate  (EXP)
dioxygen  (ISO)
doxorubicin  (ISO)
endosulfan  (ISO)
epoxiconazole  (ISO)
ethanol  (ISO)
fulvestrant  (EXP,ISO)
furan  (ISO)
galangin  (ISO)
gamma-hexachlorocyclohexane  (ISO)
gentamycin  (ISO)
geraniol  (EXP)
glucose  (ISO)
glycyl-L-phenylalanine 2-naphthylamide  (ISO)
glyphosate  (ISO)
hexadecanoic acid  (EXP,ISO)
hydrochlorothiazide  (ISO)
hydrogen chloride  (ISO)
hydrogen peroxide  (ISO)
icosanoid  (ISO)
L-ascorbic acid  (ISO)
lead(0)  (ISO)
levetiracetam  (ISO)
lipoic acid  (ISO)
lipopolysaccharide  (EXP,ISO)
LY294002  (ISO)
maneb  (EXP)
menadione  (ISO)
mercury dichloride  (ISO)
mevinphos  (ISO)
miconazole  (ISO)
mirtazapine  (ISO)
mitogen  (ISO)
monocrotaline  (ISO)
monosodium L-glutamate  (ISO)
N-acetyl-L-cysteine  (ISO)
nebivolol  (ISO)
nickel dichloride  (EXP)
niclosamide  (EXP)
nicotinic acid-adenine dinucleotide phosphate  (ISO)
nitrofen  (ISO)
nitroglycerin  (ISO)
paraquat  (EXP,ISO)
PD123319  (ISO)
PhIP  (EXP,ISO)
pioglitazone  (ISO)
pirfenidone  (ISO)
quercetin  (EXP,ISO)
razoxane  (ISO)
reactive oxygen species  (EXP,ISO)
resveratrol  (EXP,ISO)
rofecoxib  (ISO)
rotenone  (ISO)
rottlerin  (ISO)
ruxolitinib  (EXP)
Salidroside  (ISO)
SB 203580  (ISO)
sevoflurane  (ISO)
silicon dioxide  (EXP,ISO)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (EXP)
sodium chloride  (ISO)
sodium propionate  (ISO)
superoxide  (ISO)
tacrolimus hydrate  (ISO)
testosterone  (EXP)
thioacetamide  (ISO)
titanium atom  (ISO)
torcetrapib  (EXP)
trichloroethene  (ISO)
valproic acid  (ISO)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
angiogenesis  (IMP)
cell chemotaxis  (ISO)
cell migration  (IMP)
cellular response to angiotensin  (ISO)
cellular response to hyperoxia  (IEA,ISO)
cellular response to interleukin-1  (ISO)
cellular response to mercury ion  (ISO)
cellular response to platelet-derived growth factor stimulus  (ISO)
defense response  (IBA,IEA)
extracellular matrix organization  (IEA,ISO)
glutathione metabolic process  (ISO)
hydrogen peroxide metabolic process  (IDA)
inflammatory response  (TAS)
intrinsic apoptotic signaling pathway in response to oxidative stress  (IEA,ISO)
JNK cascade  (IEA,ISO)
MAPK cascade  (IEA,ISO)
NADP metabolic process  (IC)
negative regulation of neuron maturation  (ISO)
oxygen metabolic process  (IEA,ISO)
positive regulation of cell population proliferation  (IDA)
positive regulation of inclusion body assembly  (ISO)
positive regulation of integrin biosynthetic process  (IMP)
positive regulation of JNK cascade  (IEA,ISO)
positive regulation of MAPK cascade  (IEA,ISO)
positive regulation of neuron apoptotic process  (ISO)
positive regulation of neuron projection development  (ISO)
positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway  (IEA,ISO)
positive regulation of reactive oxygen species metabolic process  (ISO)
positive regulation of smooth muscle cell proliferation  (ISS)
positive regulation of superoxide anion generation  (ISO)
positive regulation of vascular associated smooth muscle cell migration  (ISO)
positive regulation of vascular associated smooth muscle cell proliferation  (ISO)
positive regulation of vascular endothelial growth factor production  (IEP)
regulation of blood pressure  (TAS)
regulation of systemic arterial blood pressure by renin-angiotensin  (IEA,ISO)
respiratory burst  (TAS)
response to reactive oxygen species  (ISO)
signal transduction  (TAS)
superoxide anion generation  (IBA,IDA,IEA,IMP,ISO)

Cellular Component
anchoring junction  (IEA)
cell projection  (IEA)
cytoplasm  (IEA)
early endosome  (IDA)
endosome  (IEA)
membrane  (IEA)
NADPH oxidase complex  (IBA,IDA,IEA,ISO)
plasma membrane  (IBA,IDA,IEA,TAS)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Autism  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Traumatic brain injury induced matrix metalloproteinase2 cleaves CXCL12α (stromal cell derived factor 1α) and causes neurodegeneration. Abdul-Muneer PM, etal., Brain Behav Immun. 2017 Jan;59:190-199. doi: 10.1016/j.bbi.2016.09.002. Epub 2016 Sep 7.
2. Assessing the effects of Ang-(1-7) therapy following transient middle cerebral artery occlusion. Arroja MMC, etal., Sci Rep. 2019 Feb 28;9(1):3154. doi: 10.1038/s41598-019-39102-8.
3. NADPH oxidase 1, a novel molecular source of ROS in hippocampal neuronal death in vascular dementia. Choi DH, etal., Antioxid Redox Signal. 2014 Aug 1;21(4):533-50. doi: 10.1089/ars.2012.5129. Epub 2014 Feb 6.
4. Role of neuronal NADPH oxidase 1 in the peri-infarct regions after stroke. Choi DH, etal., PLoS One. 2015 Jan 24;10(1):e0116814. doi: 10.1371/journal.pone.0116814. eCollection 2015.
5. NADPH oxidase 1 mediates α-synucleinopathy in Parkinson's disease. Cristóvão AC, etal., J Neurosci. 2012 Oct 17;32(42):14465-77. doi: 10.1523/JNEUROSCI.2246-12.2012.
6. Superoxide anion is elevated in sympathetic neurons in DOCA-salt hypertension via activation of NADPH oxidase. Dai X, etal., Am J Physiol Heart Circ Physiol. 2006 Mar;290(3):H1019-26. Epub 2005 Oct 7.
7. Phagocytic NADPH oxidase overactivity underlies oxidative stress in metabolic syndrome. Fortuno A, etal., Diabetes. 2006 Jan;55(1):209-15.
8. NOX1 deficiency protects from aortic dissection in response to angiotensin II. Gavazzi G, etal., Hypertension. 2007 Jul;50(1):189-96. doi: 10.1161/HYPERTENSIONAHA.107.089706. Epub 2007 May 14.
9. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
10. Deficiency of NOX1/nicotinamide adenine dinucleotide phosphate, reduced form oxidase leads to pulmonary vascular remodeling. Iwata K, etal., Arterioscler Thromb Vasc Biol. 2014 Jan;34(1):110-9. doi: 10.1161/ATVBAHA.113.302107. Epub 2013 Nov 14.
11. Serum level of Xanthine oxidase, Uric Acid, and NADPH oxidase1 in Stage I of Multiple Myeloma. Kohsari M, etal., Asian Pac J Cancer Prev. 2020 Aug 1;21(8):2237-2242. doi: 10.31557/APJCP.2020.21.8.2237.
12. Nox1 is involved in angiotensin II-mediated hypertension: a study in Nox1-deficient mice. Matsuno K, etal., Circulation. 2005 Oct 25;112(17):2677-85. doi: 10.1161/CIRCULATIONAHA.105.573709.
13. NOX1/NADPH oxidase is involved in endotoxin-induced cardiomyocyte apoptosis. Matsuno K, etal., Free Radic Biol Med. 2012 Nov 1;53(9):1718-28. doi: 10.1016/j.freeradbiomed.2012.08.590. Epub 2012 Sep 4.
14. Beneficial effects of aqueous extract of stem bark of Terminalia arjuna (Roxb.), An ayurvedic drug in experimental pulmonary hypertension. Meghwani H, etal., J Ethnopharmacol. 2017 Feb 2;197:184-194. doi: 10.1016/j.jep.2016.07.029. Epub 2016 Jul 9.
15. Endothelium-restricted endothelin-1 overexpression in type 1 diabetes worsens atherosclerosis and immune cell infiltration via NOX1. Ouerd S, etal., Cardiovasc Res. 2021 Mar 21;117(4):1144-1153. doi: 10.1093/cvr/cvaa168.
16. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
17. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
18. Cell transformation by the superoxide-generating oxidase Mox1. Suh YA, etal., Nature 1999 Sep 2;401(6748):79-82.
19. miR-145-5p attenuates inflammatory response and apoptosis in myocardial ischemia-reperfusion injury by inhibiting (NADPH) oxidase homolog 1. Tan L, etal., Exp Anim. 2021 Aug 6;70(3):311-321. doi: 10.1538/expanim.20-0160. Epub 2021 Mar 4.
20. Function of NADPH oxidase 1 in pulmonary arterial smooth muscle cells after monocrotaline-induced pulmonary vascular remodeling. Veit F, etal., Antioxid Redox Signal. 2013 Dec 20;19(18):2213-31. doi: 10.1089/ars.2012.4904. Epub 2013 Jul 20.
21. Alamandine protects against renal ischaemia-reperfusion injury in rats via inhibiting oxidative stress. Zhu J, etal., J Pharm Pharmacol. 2021 Oct 7;73(11):1491-1502. doi: 10.1093/jpp/rgab091.
Additional References at PubMed
PMID:9882350   PMID:10615049   PMID:10974555   PMID:11331784   PMID:11805326   PMID:11970839   PMID:11970841   PMID:12477932   PMID:12657628   PMID:12716910   PMID:12817011   PMID:12955083  
PMID:14617635   PMID:14670934   PMID:14674687   PMID:15102091   PMID:15110393   PMID:15203187   PMID:15256399   PMID:15322091   PMID:15375166   PMID:15389790   PMID:15452132   PMID:15489334  
PMID:15509740   PMID:15708375   PMID:15772651   PMID:15797632   PMID:15847608   PMID:15993942   PMID:16049136   PMID:16162660   PMID:16329988   PMID:16468977   PMID:16469512   PMID:16507994  
PMID:16636067   PMID:16762923   PMID:16778989   PMID:16880255   PMID:17015444   PMID:17079781   PMID:17182005   PMID:17200123   PMID:17336700   PMID:17460729   PMID:17562703   PMID:17611574  
PMID:17673675   PMID:17908694   PMID:17913709   PMID:17963706   PMID:18005670   PMID:18023288   PMID:18037128   PMID:18055552   PMID:18073139   PMID:18076063   PMID:18287880   PMID:18309110  
PMID:18331504   PMID:18347018   PMID:18397177   PMID:18398843   PMID:18429753   PMID:18436303   PMID:18454176   PMID:18463161   PMID:18463417   PMID:18518859   PMID:18535108   PMID:18571150  
PMID:18620548   PMID:19028840   PMID:19061439   PMID:19084060   PMID:19095734   PMID:19130504   PMID:19213944   PMID:19251588   PMID:19268528   PMID:19282028   PMID:19339277   PMID:19344766  
PMID:19379824   PMID:19415232   PMID:19451223   PMID:19531958   PMID:19641494   PMID:19671250   PMID:19755710   PMID:19781192   PMID:19834108   PMID:19843513   PMID:19941336   PMID:20018867  
PMID:20056178   PMID:20110267   PMID:20171273   PMID:20177149   PMID:20194723   PMID:20346360   PMID:20347035   PMID:20407038   PMID:20457132   PMID:20501406   PMID:20523355   PMID:20525691  
PMID:20617170   PMID:20715105   PMID:20818133   PMID:20919940   PMID:20943948   PMID:21029719   PMID:21167810   PMID:21176887   PMID:21181544   PMID:21237524   PMID:21326871   PMID:21483469  
PMID:21507984   PMID:21629295   PMID:21723410   PMID:21873635   PMID:21877197   PMID:21918473   PMID:22277655   PMID:22329647   PMID:22487967   PMID:22513785   PMID:22589701   PMID:22640231  
PMID:22773830   PMID:22918955   PMID:23056263   PMID:23241962   PMID:23261940   PMID:23322165   PMID:23349388   PMID:23410839   PMID:23564668   PMID:23627409   PMID:23801050   PMID:23828587  
PMID:23931157   PMID:23957209   PMID:24334927   PMID:24365146   PMID:24437351   PMID:24494188   PMID:24551274   PMID:24608713   PMID:24792722   PMID:24833663   PMID:25066192   PMID:25130439  
PMID:25581126   PMID:25592377   PMID:25722086   PMID:25881670   PMID:26065917   PMID:26101350   PMID:26116564   PMID:26222337   PMID:26339163   PMID:26545779   PMID:26658815   PMID:26760964  
PMID:27048452   PMID:27053172   PMID:27094494   PMID:27107996   PMID:27200149   PMID:27418140   PMID:27600098   PMID:27614387   PMID:27771433   PMID:27838438   PMID:27936335   PMID:28330872  
PMID:28473438   PMID:28480622   PMID:28514442   PMID:28522681   PMID:28534509   PMID:28613279   PMID:28778482   PMID:28855537   PMID:29042481   PMID:29049376   PMID:29091079   PMID:29138839  
PMID:29227594   PMID:29242061   PMID:29684820   PMID:30580571   PMID:30639242   PMID:30690057   PMID:30760703   PMID:30802716   PMID:31270287   PMID:31364740   PMID:31365870   PMID:31838229  
PMID:32296183   PMID:32339643   PMID:32428030   PMID:32961197   PMID:33306668   PMID:33344146   PMID:33485364   PMID:33757467   PMID:33961781   PMID:35960091   PMID:36341844   PMID:36617822  
PMID:36764624   PMID:37224811  


Genomics

Comparative Map Data
NOX1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X100,843,324 - 100,874,359 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX100,843,324 - 100,874,359 (-)EnsemblGRCh38hg38GRCh38
GRCh37X100,098,313 - 100,129,348 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X99,984,969 - 100,015,990 (-)NCBINCBI36Build 36hg18NCBI36
Build 34X99,904,969 - 99,935,343NCBI
CeleraX100,617,105 - 100,648,120 (-)NCBICelera
Cytogenetic MapXq22.1NCBI
HuRefX89,897,075 - 89,927,719 (-)NCBIHuRef
CHM1_1X99,991,243 - 100,022,267 (-)NCBICHM1_1
T2T-CHM13v2.0X99,285,862 - 99,317,015 (-)NCBIT2T-CHM13v2.0
Nox1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X132,987,170 - 133,038,455 (-)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblX132,987,170 - 133,122,705 (-)EnsemblGRCm39 Ensembl
GRCm38X134,086,421 - 134,137,711 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX134,086,421 - 134,221,956 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X130,621,685 - 130,646,247 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36X129,433,496 - 129,458,058 (-)NCBIMGSCv36mm8
CeleraX116,963,302 - 116,987,732 (-)NCBICelera
Cytogenetic MapXE3NCBI
cM MapX55.69NCBI
Nox1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8X101,572,338 - 101,625,571 (-)NCBIGRCr8
mRatBN7.2X97,279,058 - 97,332,291 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblX97,279,056 - 97,302,236 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_UtxX98,953,200 - 98,976,388 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0X102,462,968 - 102,486,155 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0X99,966,365 - 99,989,543 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0X104,909,328 - 104,932,508 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX104,909,326 - 104,932,508 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0X104,742,161 - 104,765,479 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
CeleraX98,325,197 - 98,348,363 (-)NCBICelera
Cytogenetic MapXq32NCBI
Nox1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555036,974,239 - 6,997,618 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555036,973,965 - 7,020,182 (-)NCBIChiLan1.0ChiLan1.0
NOX1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2X100,442,780 - 100,481,957 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1X100,446,385 - 100,477,340 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0X90,046,023 - 90,076,968 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1X100,182,881 - 100,215,192 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX100,182,398 - 100,215,192 (-)Ensemblpanpan1.1panPan2
NOX1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X74,784,627 - 74,811,796 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX74,785,168 - 74,811,698 (-)EnsemblCanFam3.1canFam3CanFam3.1
ROS_Cfam_1.0X76,195,825 - 76,224,844 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 EnsemblX76,195,810 - 76,224,962 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1X73,760,799 - 73,789,818 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0X75,424,758 - 75,453,798 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0X75,186,299 - 75,215,328 (-)NCBIUU_Cfam_GSD_1.0
Nox1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X63,512,975 - 63,529,017 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365846,024,008 - 6,039,866 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365846,023,960 - 6,040,041 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NOX1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX82,540,667 - 82,586,532 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X82,540,664 - 82,575,811 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X90,483,590 - 90,496,590 (-)NCBISscrofa10.2Sscrofa10.2susScr3
NOX1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X89,182,636 - 89,210,176 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 EnsemblX89,183,264 - 89,209,298 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606514,108,862 - 14,147,312 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Nox1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046249021,736,704 - 1,755,504 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046249021,741,921 - 1,754,932 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NOX1
33 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28		 pathogenic
GRCh38/hg38 Xq21.1-23(chrX:77544283-110500317)x1 copy number loss See cases [RCV000051668] ChrX:77544283..110500317 [GRCh38]
ChrX:76799762..109743545 [GRCh37]
ChrX:76686418..109630201 [NCBI36]
ChrX:Xq21.1-23		 pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq13.2-27.1(chrX:73008114-140201321)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] ChrX:73008114..140201321 [GRCh38]
ChrX:72227953..139283477 [GRCh37]
ChrX:72144678..139111143 [NCBI36]
ChrX:Xq13.2-27.1		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq21.1-25(chrX:81261589-126519353)x3 copy number gain See cases [RCV000052438] ChrX:81261589..126519353 [GRCh38]
ChrX:80517088..125653336 [GRCh37]
ChrX:80403744..125481017 [NCBI36]
ChrX:Xq21.1-25		 pathogenic
GRCh38/hg38 Xq21.31-22.3(chrX:89372737-106174548)x3 copy number gain See cases [RCV000052440] ChrX:89372737..106174548 [GRCh38]
ChrX:88627736..105418541 [GRCh37]
ChrX:88514392..105305197 [NCBI36]
ChrX:Xq21.31-22.3		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq22.1(chrX:100665849-101051159)x2 copy number gain See cases [RCV000054229] ChrX:100665849..101051159 [GRCh38]
ChrX:99920846..100306148 [GRCh37]
ChrX:99807502..100192804 [NCBI36]
ChrX:Xq22.1		 uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_007052.4(NOX1):c.1518G>A (p.Gly506=) single nucleotide variant Malignant melanoma [RCV000073273] ChrX:100848680 [GRCh38]
ChrX:100103669 [GRCh37]
ChrX:99990325 [NCBI36]
ChrX:Xq22.1		 not provided
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28		 pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28		 pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28		 pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28		 pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28		 pathogenic
GRCh38/hg38 Xq22.1-23(chrX:100597687-111651116)x4 copy number gain See cases [RCV000136029] ChrX:100597687..111651116 [GRCh38]
ChrX:99852684..110894344 [GRCh37]
ChrX:99739340..110781000 [NCBI36]
ChrX:Xq22.1-23		 pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28		 pathogenic
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28		 pathogenic
GRCh38/hg38 Xq22.1(chrX:100286152-100924659)x2 copy number gain See cases [RCV000138284] ChrX:100286152..100924659 [GRCh38]
ChrX:99541150..100179648 [GRCh37]
ChrX:99427806..100066304 [NCBI36]
ChrX:Xq22.1		 uncertain significance
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq21.32-23(chrX:93591590-112530092)x3 copy number gain See cases [RCV000139204] ChrX:93591590..112530092 [GRCh38]
ChrX:92846589..111773320 [GRCh37]
ChrX:92733245..111659976 [NCBI36]
ChrX:Xq21.32-23		 pathogenic
GRCh38/hg38 Xq21.33-22.3(chrX:95823036-104957737)x1 copy number loss See cases [RCV000139979] ChrX:95823036..104957737 [GRCh38]
ChrX:95078035..104202418 [GRCh37]
ChrX:94964691..104089074 [NCBI36]
ChrX:Xq21.33-22.3		 pathogenic
GRCh38/hg38 Xq21.31-22.1(chrX:91225162-101026774)x1 copy number loss See cases [RCV000139915] ChrX:91225162..101026774 [GRCh38]
ChrX:90480161..100281763 [GRCh37]
ChrX:90366817..100168419 [NCBI36]
ChrX:Xq21.31-22.1		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic|conflicting data from submitters
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604) copy number loss See cases [RCV000141742] ChrX:50289384..119297604 [GRCh38]
ChrX:50032384..118431567 [GRCh37]
ChrX:50049124..118315595 [NCBI36]
ChrX:Xp11.22-q24		 pathogenic
GRCh38/hg38 Xq21.1-23(chrX:81109470-109442793)x1 copy number loss See cases [RCV000142372] ChrX:81109470..109442793 [GRCh38]
ChrX:80364969..108686022 [GRCh37]
ChrX:80251625..108572678 [NCBI36]
ChrX:Xq21.1-23		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28		 pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28		 pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28		 pathogenic
GRCh38/hg38 Xq22.1(chrX:100861647-101426591)x2 copy number gain See cases [RCV000143738] ChrX:100861647..101426591 [GRCh38]
ChrX:100116636..100681579 [GRCh37]
ChrX:100003292..100568235 [NCBI36]
ChrX:Xq22.1		 uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
GRCh37/hg19 Xq22.1-24(chrX:99931059-120328627)x1 copy number loss Premature ovarian failure [RCV000225336] ChrX:99931059..120328627 [GRCh37]
ChrX:Xq22.1-24		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25		 uncertain significance
GRCh37/hg19 Xq22.1(chrX:99742359-100759773)x3 copy number gain not provided [RCV000585467] ChrX:99742359..100759773 [GRCh37]
ChrX:Xq22.1		 likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq22.1-22.2(chrX:99611312-103506684) copy number gain See cases [RCV000447561] ChrX:99611312..103506684 [GRCh37]
ChrX:Xq22.1-22.2		 pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28		 pathogenic
GRCh37/hg19 Xq21.32-22.1(chrX:92879337-100099708)x1 copy number loss See cases [RCV000446413] ChrX:92879337..100099708 [GRCh37]
ChrX:Xq21.32-22.1		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq22.1(chrX:99920652-100125803)x2 copy number gain See cases [RCV000448899] ChrX:99920652..100125803 [GRCh37]
ChrX:Xq22.1		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4 copy number gain See cases [RCV000448394] ChrX:72224362..139262228 [GRCh37]
ChrX:Xq13.2-27.1		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xq21.31-23(chrX:86776682-114054291)x1 copy number loss See cases [RCV000511514] ChrX:86776682..114054291 [GRCh37]
ChrX:Xq21.31-23		 pathogenic|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq13.3-24(chrX:74560735-116609286) copy number loss See cases [RCV000510947] ChrX:74560735..116609286 [GRCh37]
ChrX:Xq13.3-24		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
NM_007052.5(NOX1):c.839A>T (p.Tyr280Phe) single nucleotide variant Inborn genetic diseases [RCV003258239] ChrX:100851291 [GRCh38]
ChrX:100106280 [GRCh37]
ChrX:Xq22.1		 uncertain significance
GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3 copy number gain See cases [RCV000512365] ChrX:96499476..151870013 [GRCh37]
ChrX:Xq21.33-28		 uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28		 pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28		 pathogenic
NM_007052.5(NOX1):c.721C>T (p.Arg241Cys) single nucleotide variant Very early onset inflammatory bowel disease [RCV000736010]|not provided [RCV000906226] ChrX:100862254 [GRCh38]
ChrX:100117243 [GRCh37]
ChrX:Xq22.1		 likely pathogenic|benign|likely benign
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq22.1(chrX:99764215-100150502)x3 copy number gain not provided [RCV000753686] ChrX:99764215..100150502 [GRCh37]
ChrX:Xq22.1		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28		 pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3		 pathogenic
NM_007052.5(NOX1):c.628C>A (p.Leu210Ile) single nucleotide variant Inborn genetic diseases [RCV003268830] ChrX:100862435 [GRCh38]
ChrX:100117424 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_007052.5(NOX1):c.1278C>G (p.His426Gln) single nucleotide variant NOX1-related condition [RCV003975741]|not provided [RCV000902014] ChrX:100849790 [GRCh38]
ChrX:100104779 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_007052.5(NOX1):c.904A>G (p.Met302Val) single nucleotide variant not provided [RCV000887367] ChrX:100850380 [GRCh38]
ChrX:100105369 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_007052.5(NOX1):c.1066C>T (p.Arg356Ter) single nucleotide variant not provided [RCV000925832] ChrX:100850218 [GRCh38]
ChrX:100105207 [GRCh37]
ChrX:Xq22.1		 likely benign
GRCh37/hg19 Xq22.1(chrX:98987165-100421459)x2 copy number gain not provided [RCV000848726] ChrX:98987165..100421459 [GRCh37]
ChrX:Xq22.1		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28		 pathogenic
GRCh37/hg19 Xq22.1(chrX:99943376-100476729)x2 copy number gain not provided [RCV000849738] ChrX:99943376..100476729 [GRCh37]
ChrX:Xq22.1		 uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28		 uncertain significance
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28		 pathogenic
GRCh37/hg19 Xq22.1(chrX:99858358-100772721)x2 copy number gain not provided [RCV000846413] ChrX:99858358..100772721 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_007052.5(NOX1):c.1123C>A (p.Pro375Thr) single nucleotide variant Inborn genetic diseases [RCV003292556] ChrX:100850161 [GRCh38]
ChrX:100105150 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NC_000023.10:g.(?_99551275)_(100099087_?)del deletion Developmental and epileptic encephalopathy, 9 [RCV003105638] ChrX:99551275..100099087 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_007052.5(NOX1):c.262C>T (p.Arg88Cys) single nucleotide variant Inborn genetic diseases [RCV003251829] ChrX:100863234 [GRCh38]
ChrX:100118223 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_007052.5(NOX1):c.557T>C (p.Ile186Thr) single nucleotide variant Inborn genetic diseases [RCV003275601] ChrX:100862506 [GRCh38]
ChrX:100117495 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_007052.5(NOX1):c.765C>T (p.Ser255=) single nucleotide variant NOX1-related condition [RCV003975660]|not provided [RCV000893985] ChrX:100862210 [GRCh38]
ChrX:100117199 [GRCh37]
ChrX:Xq22.1		 benign
NM_007052.5(NOX1):c.1133G>A (p.Arg378Lys) single nucleotide variant NOX1-related condition [RCV003936187]|not provided [RCV000974340] ChrX:100850151 [GRCh38]
ChrX:100105140 [GRCh37]
ChrX:Xq22.1		 benign
GRCh37/hg19 Xq21.32-23(chrX:91829757-113050225)x1 copy number loss Xq21.32q23 deletion [RCV001579312] ChrX:91829757..113050225 [GRCh37]
ChrX:Xq21.32-23		 pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28		 pathogenic
GRCh37/hg19 Xq22.1(chrX:99910467-100704219)x2 copy number gain not provided [RCV001007327] ChrX:99910467..100704219 [GRCh37]
ChrX:Xq22.1		 uncertain significance
GRCh37/hg19 Xq22.1(chrX:100074893-100454200)x3 copy number gain not provided [RCV001007328] ChrX:100074893..100454200 [GRCh37]
ChrX:Xq22.1		 uncertain significance
GRCh37/hg19 Xq22.1(chrX:99858343-100348232)x3 copy number gain not provided [RCV001259486] ChrX:99858343..100348232 [GRCh37]
ChrX:Xq22.1		 uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:77670699-155233731)x1 copy number loss See cases [RCV002285075] ChrX:77670699..155233731 [GRCh37]
ChrX:Xq21.1-28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28		 pathogenic
GRCh37/hg19 Xq21.1-25(chrX:77514079-127770854)x1 copy number loss not provided [RCV001259005] ChrX:77514079..127770854 [GRCh37]
ChrX:Xq21.1-25		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
NC_000023.10:g.(?_99551275)_(101097764_?)dup duplication Developmental and epileptic encephalopathy, 9 [RCV003109223]|X-linked agammaglobulinemia with growth hormone deficiency [RCV003119228] ChrX:99551275..101097764 [GRCh37]
ChrX:Xq22.1		 uncertain significance
GRCh37/hg19 Xq22.1(chrX:99589130-102138180)x3 copy number gain not provided [RCV001834163] ChrX:99589130..102138180 [GRCh37]
ChrX:Xq22.1		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number gain 46,XX sex reversal 1 [RCV002280665]|Hypotonia [RCV002280667]|Trisomy X syndrome [RCV002280666] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NC_000023.10:g.(?_99917153)_(100662891_?)dup duplication Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked [RCV001871045] ChrX:99917153..100662891 [GRCh37]
ChrX:Xq22.1		 uncertain significance
GRCh37/hg19 Xq21.32-22.1(chrX:92879337-100099708) copy number loss not specified [RCV002053160] ChrX:92879337..100099708 [GRCh37]
ChrX:Xq21.32-22.1		 pathogenic
GRCh37/hg19 Xq22.1(chrX:99842716-100570618) copy number gain not specified [RCV002053163] ChrX:99842716..100570618 [GRCh37]
ChrX:Xq22.1		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain not provided [RCV001829212] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV001834509] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NC_000023.10:g.(?_99551275)_(100663464_?)del deletion Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked [RCV001970672] ChrX:99551275..100663464 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NC_000023.10:g.(?_99551275)_(101097764_?)del deletion not provided [RCV003113386] ChrX:99551275..101097764 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_007052.5(NOX1):c.1367A>C (p.Glu456Ala) single nucleotide variant not provided [RCV002269549] ChrX:100849356 [GRCh38]
ChrX:100104345 [GRCh37]
ChrX:Xq22.1		 uncertain significance
GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731) copy number loss Turner syndrome [RCV002280672] ChrX:62685885..155233731 [GRCh37]
ChrX:Xq11.1-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074) copy number gain Klinefelter syndrome [RCV003236730] ChrX:200855..155240074 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1 copy number loss See cases [RCV002286357] ChrX:11522765..155233731 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2 copy number gain Klinefelter syndrome [RCV002282732] ChrX:61545..155226048 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number loss Turner syndrome [RCV002280668] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq21.1-24(chrX:76794355-119282836)x3 copy number gain not provided [RCV002291535] ChrX:76794355..119282836 [GRCh37]
ChrX:Xq21.1-24		 pathogenic
GRCh37/hg19 Xq22.1(chrX:100118775-100510437)x2 copy number gain not provided [RCV002475861] ChrX:100118775..100510437 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_007052.5(NOX1):c.320T>C (p.Met107Thr) single nucleotide variant Inborn genetic diseases [RCV002858745] ChrX:100863176 [GRCh38]
ChrX:100118165 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_007052.5(NOX1):c.53G>C (p.Trp18Ser) single nucleotide variant Inborn genetic diseases [RCV002860389] ChrX:100870807 [GRCh38]
ChrX:100125796 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_007052.5(NOX1):c.1357A>G (p.Thr453Ala) single nucleotide variant Inborn genetic diseases [RCV002968501] ChrX:100849366 [GRCh38]
ChrX:100104355 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_007052.5(NOX1):c.1601G>A (p.Arg534Gln) single nucleotide variant Inborn genetic diseases [RCV002817947] ChrX:100844046 [GRCh38]
ChrX:100099035 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_007052.5(NOX1):c.1167T>G (p.Ser389Arg) single nucleotide variant Inborn genetic diseases [RCV002925002] ChrX:100849901 [GRCh38]
ChrX:100104890 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_007052.5(NOX1):c.682C>T (p.Arg228Trp) single nucleotide variant Inborn genetic diseases [RCV002694285] ChrX:100862293 [GRCh38]
ChrX:100117282 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_007052.5(NOX1):c.397A>G (p.Thr133Ala) single nucleotide variant Inborn genetic diseases [RCV003006789] ChrX:100862761 [GRCh38]
ChrX:100117750 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_007052.5(NOX1):c.1055C>T (p.Ser352Phe) single nucleotide variant Inborn genetic diseases [RCV002826799] ChrX:100850229 [GRCh38]
ChrX:100105218 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_007052.5(NOX1):c.839A>G (p.Tyr280Cys) single nucleotide variant Inborn genetic diseases [RCV002805207] ChrX:100851291 [GRCh38]
ChrX:100106280 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_007052.5(NOX1):c.775C>T (p.Arg259Cys) single nucleotide variant Inborn genetic diseases [RCV002940863] ChrX:100862200 [GRCh38]
ChrX:100117189 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_007052.5(NOX1):c.389G>A (p.Arg130Gln) single nucleotide variant Inborn genetic diseases [RCV002724996] ChrX:100862769 [GRCh38]
ChrX:100117758 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_007052.5(NOX1):c.1162G>A (p.Ala388Thr) single nucleotide variant Inborn genetic diseases [RCV003188540] ChrX:100849906 [GRCh38]
ChrX:100104895 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_007052.5(NOX1):c.389G>T (p.Arg130Leu) single nucleotide variant Inborn genetic diseases [RCV003190858] ChrX:100862769 [GRCh38]
ChrX:100117758 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_007052.5(NOX1):c.455G>A (p.Gly152Asp) single nucleotide variant Inborn genetic diseases [RCV003345175] ChrX:100862703 [GRCh38]
ChrX:100117692 [GRCh37]
ChrX:Xq22.1		 likely benign
GRCh37/hg19 Xq21.33-22.3(chrX:96349060-106950847)x3 copy number gain not provided [RCV003485308] ChrX:96349060..106950847 [GRCh37]
ChrX:Xq21.33-22.3		 pathogenic
GRCh37/hg19 Xq21.31-25(chrX:91274467-126799984)x1 copy number loss not provided [RCV003483927] ChrX:91274467..126799984 [GRCh37]
ChrX:Xq21.31-25		 pathogenic
GRCh37/hg19 Xq22.1(chrX:100078029-100451296)x2 copy number gain not provided [RCV003483970] ChrX:100078029..100451296 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_007052.5(NOX1):c.935T>C (p.Met312Thr) single nucleotide variant not provided [RCV003432219] ChrX:100850349 [GRCh38]
ChrX:100105338 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_007052.5(NOX1):c.672-5T>G single nucleotide variant not provided [RCV003432221] ChrX:100862308 [GRCh38]
ChrX:100117297 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_007052.5(NOX1):c.453G>A (p.Gly151=) single nucleotide variant not provided [RCV003432222] ChrX:100862705 [GRCh38]
ChrX:100117694 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_007052.5(NOX1):c.684G>A (p.Arg228=) single nucleotide variant not provided [RCV003432220] ChrX:100862291 [GRCh38]
ChrX:100117280 [GRCh37]
ChrX:Xq22.1		 likely benign
GRCh37/hg19 Xq13.1-22.1(chrX:68040342-100863081) copy number gain not specified [RCV003986197] ChrX:68040342..100863081 [GRCh37]
ChrX:Xq13.1-22.1		 pathogenic
GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3 copy number gain not provided [RCV003885530] ChrX:67292994..155240074 [GRCh37]
ChrX:Xq12-28		 pathogenic
NM_007052.5(NOX1):c.1237A>G (p.Ile413Val) single nucleotide variant NOX1-related condition [RCV003978909] ChrX:100849831 [GRCh38]
ChrX:100104820 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_007052.5(NOX1):c.340A>G (p.Ile114Val) single nucleotide variant NOX1-related condition [RCV003937393] ChrX:100862818 [GRCh38]
ChrX:100117807 [GRCh37]
ChrX:Xq22.1		 benign
NM_007052.5(NOX1):c.869G>A (p.Arg290His) single nucleotide variant not provided [RCV003884230] ChrX:100851261 [GRCh38]
ChrX:100106250 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_007052.5(NOX1):c.142-4G>A single nucleotide variant NOX1-related condition [RCV003942258] ChrX:100863599 [GRCh38]
ChrX:100118588 [GRCh37]
ChrX:Xq22.1		 likely benign
GRCh37/hg19 Xq21.1-24(chrX:77212972-118576590)x3 copy number gain not provided [RCV003485304] ChrX:77212972..118576590 [GRCh37]
ChrX:Xq21.1-24		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28		 pathogenic
GRCh38/hg38 Xp11.23-q22.1(chrX:49100536-102174742)x1 copy number loss See cases [RCV000137414] ChrX:49100536..102174742 [GRCh38]
ChrX:48957474..101429714 [GRCh37]
ChrX:48844418..101316370 [NCBI36]
ChrX:Xp11.23-q22.1		 pathogenic|likely benign
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3		 pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28		 pathogenic|likely benign
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28		 pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28		 pathogenic
GRCh37/hg19 Xq21.33-26.1(chrX:95498487-129063677)x3 copy number gain See cases [RCV000446318] ChrX:95498487..129063677 [GRCh37]
ChrX:Xq21.33-26.1		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28		 pathogenic|uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28		 pathogenic
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28		 pathogenic
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
Single allele duplication Autism [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1 copy number loss not provided [RCV001537933] ChrX:60000..155234966 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq21.33-24(chrX:93805850-118913329)x1 copy number loss not provided [RCV002474518] ChrX:93805850..118913329 [GRCh37]
ChrX:Xq21.33-24		 pathogenic
NM_007052.5(NOX1):c.1466T>C (p.Phe489Ser) single nucleotide variant Inborn genetic diseases [RCV003192680] ChrX:100848732 [GRCh38]
ChrX:100103721 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_007052.5(NOX1):c.1393G>A (p.Val465Met) single nucleotide variant Inborn genetic diseases [RCV003379544] ChrX:100849330 [GRCh38]
ChrX:100104319 [GRCh37]
ChrX:Xq22.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:974
Count of miRNA genes:524
Interacting mature miRNAs:569
Transcripts:ENST00000217885, ENST00000372960, ENST00000372964, ENST00000372966, ENST00000427768
Prediction methods:Miranda, Pita, Rnahybrid, Targetscan
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
PMC228420P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X100,104,286 - 100,104,927UniSTSGRCh37
Build 36X99,990,942 - 99,991,583RGDNCBI36
CeleraX100,623,076 - 100,623,717RGD
Cytogenetic MapXq22UniSTS
HuRefX89,902,684 - 89,903,325UniSTS


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 adipose tissue appendage entire extraembryonic component
High 1
Medium 373 1 1 7 1 4 4
Low 498 23 352 89 564 90 1302 34 1401 194 586 554 7 50 675
Below cutoff 1544 2601 1328 499 989 338 2912 1997 2262 202 829 999 162 1139 2011 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012567 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001271815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_007052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_013955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029407 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF127763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF166326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF166327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF166328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI285296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ438989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC075014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC075015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX956931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ314883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ424904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z83819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000217885   ⟹   ENSP00000217885
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX100,843,836 - 100,874,209 (-)Ensembl
RefSeq Acc Id: ENST00000372960   ⟹   ENSP00000362051
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX100,843,324 - 100,874,345 (-)Ensembl
RefSeq Acc Id: ENST00000372964   ⟹   ENSP00000362055
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX100,843,333 - 100,874,209 (-)Ensembl
RefSeq Acc Id: ENST00000372966   ⟹   ENSP00000362057
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX100,843,324 - 100,874,359 (-)Ensembl
RefSeq Acc Id: ENST00000427768   ⟹   ENSP00000396992
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX100,843,783 - 100,850,336 (-)Ensembl
RefSeq Acc Id: NM_001271815   ⟹   NP_001258744
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X100,843,324 - 100,874,359 (-)NCBI
GRCh37X100,098,313 - 100,129,334 (-)NCBI
HuRefX89,897,075 - 89,927,719 (-)NCBI
CHM1_1X99,991,243 - 100,022,267 (-)NCBI
T2T-CHM13v2.0X99,285,862 - 99,317,015 (-)NCBI
Sequence:
RefSeq Acc Id: NM_007052   ⟹   NP_008983
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X100,843,324 - 100,874,359 (-)NCBI
GRCh37X100,098,313 - 100,129,334 (-)ENTREZGENE
Build 36X99,984,969 - 100,015,990 (-)NCBI Archive
HuRefX89,897,075 - 89,927,719 (-)ENTREZGENE
CHM1_1X99,991,243 - 100,022,267 (-)NCBI
T2T-CHM13v2.0X99,285,862 - 99,317,015 (-)NCBI
Sequence:
RefSeq Acc Id: NM_013955   ⟹   NP_039249
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X100,843,324 - 100,874,359 (-)NCBI
GRCh37X100,098,313 - 100,129,334 (-)ENTREZGENE
Build 36X99,984,969 - 100,015,990 (-)NCBI Archive
HuRefX89,897,075 - 89,927,719 (-)ENTREZGENE
CHM1_1X99,991,243 - 100,022,267 (-)NCBI
T2T-CHM13v2.0X99,285,862 - 99,317,015 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029407   ⟹   XP_016884896
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X100,843,324 - 100,863,451 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054326825   ⟹   XP_054182800
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X99,285,862 - 99,306,109 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_039249   ⟸   NM_013955
- Peptide Label: isoform 2
- UniProtKB: Q8TCT3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_008983   ⟸   NM_007052
- Peptide Label: isoform 1
- UniProtKB: O95691 (UniProtKB/Swiss-Prot),   A8K836 (UniProtKB/Swiss-Prot),   Q2PP02 (UniProtKB/Swiss-Prot),   Q9Y5S8 (UniProtKB/Swiss-Prot),   Q1ZYL4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001258744   ⟸   NM_001271815
- Peptide Label: isoform 3
- UniProtKB: A6NGA6 (UniProtKB/TrEMBL),   Q1ZYL4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016884896   ⟸   XM_017029407
- Peptide Label: isoform X1
- UniProtKB: Q1ZYL4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000362051   ⟸   ENST00000372960
RefSeq Acc Id: ENSP00000362055   ⟸   ENST00000372964
RefSeq Acc Id: ENSP00000362057   ⟸   ENST00000372966
RefSeq Acc Id: ENSP00000396992   ⟸   ENST00000427768
RefSeq Acc Id: ENSP00000217885   ⟸   ENST00000217885
RefSeq Acc Id: XP_054182800   ⟸   XM_054326825
- Peptide Label: isoform X1
Protein Domains
FAD-binding FR-type   Ferric oxidoreductase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9Y5S8-F1-model_v2 AlphaFold Q9Y5S8 1-564 view protein structure

Promoters
RGD ID:13627602
Promoter ID:EPDNEW_H29076
Type:initiation region
Name:NOX1_1
Description:NADPH oxidase 1
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
GRCh38X100,874,300 - 100,874,360EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7889 AgrOrtholog
COSMIC NOX1 COSMIC
Ensembl Genes ENSG00000007952 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000217885 ENTREZGENE
  ENST00000217885.5 UniProtKB/Swiss-Prot
  ENST00000372960 ENTREZGENE
  ENST00000372960.8 UniProtKB/TrEMBL
  ENST00000372964.5 UniProtKB/TrEMBL
  ENST00000372966 ENTREZGENE
  ENST00000372966.8 UniProtKB/Swiss-Prot
  ENST00000427768.5 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.80 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Translation factors UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000007952 GTEx
HGNC ID HGNC:7889 ENTREZGENE
Human Proteome Map NOX1 Human Proteome Map
InterPro Cyt_b245_heavy_chain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FAD-bd_8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FAD-bd_FR_type UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fe3_Rdtase_TM_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fe_red_NAD-bd_6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FNR_nucleotide-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Riboflavin_synthase-like_b-brl UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:27035 UniProtKB/Swiss-Prot
NCBI Gene 27035 ENTREZGENE
OMIM 300225 OMIM
PANTHER NADPH OXIDASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11972:SF71 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam FAD_binding_8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ferric_reduct UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NAD_binding_6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31690 PharmGKB
PRINTS GP91PHOX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE FAD_FR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52343 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF63380 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A6NGA6 ENTREZGENE, UniProtKB/TrEMBL
  A8K836 ENTREZGENE
  H0Y581_HUMAN UniProtKB/TrEMBL
  NOX1_HUMAN UniProtKB/Swiss-Prot
  O95691 ENTREZGENE
  Q1ZYL4 ENTREZGENE, UniProtKB/TrEMBL
  Q2PP02 ENTREZGENE
  Q5H9D4_HUMAN UniProtKB/TrEMBL
  Q8TCT3 ENTREZGENE, UniProtKB/TrEMBL
  Q9Y5S8 ENTREZGENE
UniProt Secondary A6NHV9 UniProtKB/TrEMBL
  A8K836 UniProtKB/Swiss-Prot
  O95691 UniProtKB/Swiss-Prot
  Q2PP02 UniProtKB/Swiss-Prot