NOX1 (NADPH oxidase 1) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: NOX1 (NADPH oxidase 1) Homo sapiens
Analyze
Symbol: NOX1
Name: NADPH oxidase 1
RGD ID: 732308
HGNC Page HGNC
Description: Exhibits 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 metabolic process; and superoxide anion generation. Localizes to NADPH oxidase complex and early endosome.
Type: protein-coding
RefSeq Status: REVIEWED
Also 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; 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
GRCh38.p13 EnsemblX100,843,324 - 100,874,359 (-)EnsemblGRCh38hg38GRCh38
GRCh38X100,843,324 - 100,874,359 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X100,098,313 - 100,129,348 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X99,984,969 - 100,015,990 (-)NCBINCBI36hg18NCBI36
Build 34X99,904,969 - 99,935,343NCBI
CeleraX100,617,105 - 100,648,120 (-)NCBI
Cytogenetic MapXq22.1NCBI
HuRefX89,897,075 - 89,927,719 (-)NCBIHuRef
CHM1_1X99,991,243 - 100,022,267 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(R)-lipoic acid  (ISO)
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  (ISO)
butanal  (EXP)
calcitriol  (EXP)
calcium atom  (ISO)
calcium(0)  (ISO)
camostat  (ISO)
candesartan  (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)
D-glucose  (ISO)
DDE  (EXP)
decabromodiphenyl ether  (ISO)
Deoxycorticosterone acetate  (ISO)
diarsenic trioxide  (EXP)
dibenziodolium  (EXP,ISO)
dieldrin  (ISO)
diminazene diaceturate  (EXP)
doxorubicin  (ISO)
endosulfan  (ISO)
ethanol  (ISO)
furan  (ISO)
gamma-hexachlorocyclohexane  (ISO)
geraniol  (EXP)
glucose  (ISO)
glycyl-L-phenylalanine 2-naphthylamide  (ISO)
hexadecanoic acid  (EXP,ISO)
hydrochlorothiazide  (ISO)
hydrogen chloride  (ISO)
hydrogen peroxide  (ISO)
icosanoid  (ISO)
L-ascorbic acid  (ISO)
lead(0)  (ISO)
lead(2+)  (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)
nicotinic acid-adenine dinucleotide phosphate  (ISO)
nitrofen  (ISO)
nitroglycerin  (ISO)
paraquat  (EXP,ISO)
PD123319  (ISO)
PhIP  (EXP,ISO)
pioglitazone  (ISO)
pirfenidone  (ISO)
quercetin  (ISO)
razoxane  (ISO)
reactive oxygen species  (EXP,ISO)
resveratrol  (EXP,ISO)
rofecoxib  (ISO)
rotenone  (ISO)
rottlerin  (ISO)
Salidroside  (ISO)
SB 203580  (ISO)
silicon dioxide  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (EXP)
sodium chloride  (ISO)
superoxide  (ISO)
tacrolimus hydrate  (ISO)
testosterone  (EXP)
thioacetamide  (ISO)
titanium atom  (ISO)
torcetrapib  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Schizophrenia  (IAGP)
References

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:23077033   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:32296183   PMID:32339643   PMID:32428030   PMID:32961197  


Genomics

Comparative Map Data
NOX1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX100,843,324 - 100,874,359 (-)EnsemblGRCh38hg38GRCh38
GRCh38X100,843,324 - 100,874,359 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X100,098,313 - 100,129,348 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X99,984,969 - 100,015,990 (-)NCBINCBI36hg18NCBI36
Build 34X99,904,969 - 99,935,343NCBI
CeleraX100,617,105 - 100,648,120 (-)NCBI
Cytogenetic MapXq22.1NCBI
HuRefX89,897,075 - 89,927,719 (-)NCBIHuRef
CHM1_1X99,991,243 - 100,022,267 (-)NCBICHM1_1
Nox1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X132,987,170 - 133,038,455 (-)NCBIGRCm39mm39
GRCm39 EnsemblX132,987,170 - 133,122,705 (-)Ensembl
GRCm38X134,086,421 - 134,137,711 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX134,086,421 - 134,221,956 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X130,621,685 - 130,646,247 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X129,433,496 - 129,458,058 (-)NCBImm8
CeleraX116,963,302 - 116,987,732 (-)NCBICelera
Cytogenetic MapXE3NCBI
cM MapX55.69NCBI
Nox1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X97,279,058 - 97,332,291 (-)NCBI
Rnor_6.0 EnsemblX104,909,326 - 104,932,508 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X104,909,328 - 104,932,508 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
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
PanPan1.1X100,182,881 - 100,215,192 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX100,182,398 - 100,215,192 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X90,046,023 - 90,076,968 (-)NCBIMhudiblu_PPA_v0panPan3
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 (-)NCBI
UMICH_Zoey_3.1X73,760,799 - 73,789,818 (-)NCBI
UNSW_CanFamBas_1.0X75,424,758 - 75,453,798 (-)NCBI
UU_Cfam_GSD_1.0X75,186,299 - 75,215,328 (-)NCBI
Nox1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X63,512,975 - 63,529,017 (-)NCBI
SpeTri2.0NW_0049365846,023,960 - 6,040,041 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NOX1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX82,540,666 - 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 - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X89,182,636 - 89,210,176 (-)NCBI
ChlSab1.1 EnsemblX89,183,264 - 89,209,298 (-)Ensembl
Nox1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046249021,741,921 - 1,754,932 (+)NCBI

Position Markers
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

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.


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
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
  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
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX100,843,836 - 100,874,209 (-)Ensembl
RefSeq Acc Id: ENST00000372960   ⟹   ENSP00000362051
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX100,843,324 - 100,874,345 (-)Ensembl
RefSeq Acc Id: ENST00000372964   ⟹   ENSP00000362055
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX100,843,333 - 100,874,209 (-)Ensembl
RefSeq Acc Id: ENST00000372966   ⟹   ENSP00000362057
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX100,843,324 - 100,874,359 (-)Ensembl
RefSeq Acc Id: ENST00000427768   ⟹   ENSP00000396992
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 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
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
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
Sequence:
RefSeq Acc Id: XM_017029407   ⟹   XP_016884896
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X100,843,324 - 100,863,452 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_039249   ⟸   NM_013955
- Peptide Label: isoform 2
- UniProtKB: Q9Y5S8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_008983   ⟸   NM_007052
- Peptide Label: isoform 1
- UniProtKB: Q9Y5S8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001258744   ⟸   NM_001271815
- Peptide Label: isoform 3
- UniProtKB: Q9Y5S8 (UniProtKB/Swiss-Prot),   A6NGA6 (UniProtKB/TrEMBL),   Q1ZYL4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016884896   ⟸   XM_017029407
- Peptide Label: isoform X1
- 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
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

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: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:10679-156013167)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 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 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: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 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 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 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
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
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: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: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: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 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 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 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 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 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 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 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 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 Xq21.31-28(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 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 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 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)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
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 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 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: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: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
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 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 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [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:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
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:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [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:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [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:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
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 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [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 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28
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 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 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:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
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-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-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 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
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 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 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
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 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
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|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:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
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.1278C>G (p.His426Gln) single nucleotide variant 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 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28
pathogenic
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.765C>T (p.Ser255=) single nucleotide variant 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 not provided [RCV000974340] ChrX:100850151 [GRCh38]
ChrX:100105140 [GRCh37]
ChrX:Xq22.1
benign
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 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

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 Protein ENSP00000217885 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000362051 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000362055 UniProtKB/TrEMBL
  ENSP00000362057 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000396992 UniProtKB/TrEMBL
Ensembl Transcript ENST00000217885 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000372960 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000372964 UniProtKB/TrEMBL
  ENST00000372966 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000427768 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.80 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
  NOX1 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 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
  H0Y581_HUMAN UniProtKB/TrEMBL
  NOX1_HUMAN UniProtKB/Swiss-Prot
  Q1ZYL4 ENTREZGENE, UniProtKB/TrEMBL
  Q5H9D4_HUMAN UniProtKB/TrEMBL
  Q8TCT3_HUMAN UniProtKB/TrEMBL
  Q9Y5S8 ENTREZGENE
UniProt Secondary A6NHV9 UniProtKB/TrEMBL
  A8K836 UniProtKB/Swiss-Prot
  O95691 UniProtKB/Swiss-Prot
  Q2PP02 UniProtKB/Swiss-Prot