NCF1 (neutrophil cytosolic factor 1) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: NCF1 (neutrophil cytosolic factor 1) Homo sapiens
Analyze
Symbol: NCF1
Name: neutrophil cytosolic factor 1
RGD ID: 1348698
HGNC Page HGNC:7660
Description: Enables several functions, including SH3 domain binding activity; phosphatidylinositol-3,4-bisphosphate binding activity; and superoxide-generating NAD(P)H oxidase activity. Involved in protein targeting to membrane. Acts upstream of or within with a positive effect on superoxide anion generation. Located in cytoplasmic side of plasma membrane and cytosol. Part of NADPH oxidase complex. Implicated in Williams-Beuren syndrome; autosomal recessive chronic granulomatous disease 1; and chronic granulomatous disease.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 47 kDa autosomal chronic granulomatous disease protein; 47 kDa neutrophil oxidase factor; CGD1; FLJ79451; NADPH oxidase organizer 2; NCF-1; NCF-47K; NCF1A; neutrophil cytosol factor 1; neutrophil cytosolic factor 1 (47kda, chronic granulomatous disease, autosomal 1); neutrophil cytosolic factor 1, (chronic granulomatous disease, autosomal 1); neutrophil NADPH oxidase factor 1; nox organizer 2; nox-organizing protein 2; NOXO2; p47-phox; p47phox; SH3 and PX domain-containing protein 1A; SH3PXD1A
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: NCF1B   NCF1C  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38774,774,011 - 74,789,315 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl774,774,011 - 74,789,315 (+)EnsemblGRCh38hg38GRCh38
GRCh37774,188,358 - 74,203,659 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36773,826,245 - 73,841,595 (+)NCBINCBI36Build 36hg18NCBI36
Build 34774,017,096 - 74,032,410NCBI
Cytogenetic Map7q11.23NCBI
CHM1_1774,333,378 - 74,348,792 (+)NCBICHM1_1
T2T-CHM13v2.0775,976,304 - 75,991,631 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2773,521,373 - 73,536,784NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (EXP,ISO)
(R)-lipoic acid  (ISO)
(S)-nicotine  (EXP)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (EXP)
1,1-bis(2-aminoethyl)-2-hydroxy-3-oxotriazane  (EXP)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
11-deoxycorticosterone  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (EXP)
2,3',4,4',5-Pentachlorobiphenyl  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
3-\{1-[3-(dimethylamino)propyl]-1H-indol-3-yl\}-4-(1H-indol-3-yl)-1H-pyrrole-2,5-dione  (EXP,ISO)
3-chloropropane-1,2-diol  (ISO)
3-methylcholanthrene  (EXP)
3-phenylprop-2-enal  (EXP)
4-hydroxyphenyl retinamide  (ISO)
4-phenylbutyric acid  (ISO)
6-propyl-2-thiouracil  (ISO)
8-OH-DPAT  (ISO)
acetamide  (ISO)
acetylcholine  (ISO)
acetylsalicylic acid  (ISO)
acrolein  (EXP)
actinomycin D  (EXP)
Adiponectin  (EXP)
AICA ribonucleotide  (ISO)
aldehydo-D-glucose  (EXP,ISO)
aldrin  (EXP)
all-trans-retinoic acid  (EXP)
alpha-amanitin  (ISO)
alpha-hexachlorocyclohexane  (EXP)
alpha-naphthoflavone  (EXP)
alpha-Zearalanol  (ISO)
ammonium chloride  (ISO)
anthra[1,9-cd]pyrazol-6(2H)-one  (ISO)
apocynin  (EXP,ISO)
arachidonic acid  (EXP)
aristolochic acid A  (EXP)
arsane  (EXP,ISO)
arsenic atom  (EXP,ISO)
arsenic trichloride  (EXP)
arsenous acid  (EXP,ISO)
atrazine  (ISO)
benazepril  (ISO)
benzo[a]pyrene  (EXP)
berberine  (EXP)
beta-naphthoflavone  (EXP)
bezafibrate  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
BQ 123  (ISO)
bucladesine  (EXP)
Butylbenzyl phthalate  (ISO)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP,ISO)
calcium atom  (ISO)
calcium dichloride  (ISO)
calcium(0)  (ISO)
carbon atom  (ISO)
carbon nanotube  (ISO)
carbonyl sulfide  (ISO)
cerium trichloride  (EXP)
chelerythrine  (ISO)
cholesterol  (ISO)
choline  (ISO)
chromium(6+)  (EXP)
cisplatin  (EXP)
cobalt dichloride  (ISO)
cocaine  (ISO)
Cuprizon  (ISO)
cyanocob(III)alamin  (EXP)
D-glucose  (EXP,ISO)
daunorubicin  (ISO)
DDE  (EXP)
Deoxycorticosterone acetate  (ISO)
dexamethasone  (EXP)
Di-n-octyl phthalate  (ISO)
diallyl trisulfide  (ISO)
diarsenic trioxide  (EXP,ISO)
dibenziodolium  (EXP)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
diclofenac  (ISO)
diethyl phthalate  (ISO)
Diisodecyl phthalate  (ISO)
diisononyl phthalate  (ISO)
dimethylarsinic acid  (ISO)
diminazene diaceturate  (EXP)
dioxygen  (EXP,ISO)
dorsomorphin  (ISO)
doxorubicin  (ISO)
edaravone  (ISO)
elemental carbon  (ISO)
endosulfan  (EXP,ISO)
eplerenone  (ISO)
ethanol  (EXP,ISO)
felodipine  (ISO)
filipin III  (ISO)
folic acid  (EXP,ISO)
fructose  (ISO)
gallic acid  (ISO)
ginkgolide B  (ISO)
ginsenoside Re  (ISO)
gliclazide  (ISO)
glucose  (EXP,ISO)
glyburide  (ISO)
glyphosate  (ISO)
Goe 6976  (EXP,ISO)
hexadecanoic acid  (ISO)
homocysteine  (EXP,ISO)
Honokiol  (EXP)
hydralazine  (EXP)
hydrogen peroxide  (ISO)
indirubin  (EXP)
irbesartan  (ISO)
irinotecan  (ISO)
isoprenaline  (ISO)
isorhamnetin  (ISO)
ketoconazole  (ISO)
L-methionine  (ISO)
lanthanum trichloride  (EXP)
lead diacetate  (ISO)
lidocaine  (ISO)
linoleic acid  (EXP)
lipoic acid  (ISO)
lipopolysaccharide  (EXP,ISO)
losartan  (ISO)
maneb  (ISO)
medroxyprogesterone acetate  (EXP)
menadione  (ISO)
metformin  (ISO)
methamphetamine  (ISO)
methimazole  (ISO)
methyl beta-cyclodextrin  (ISO)
methylarsonic acid  (ISO)
miconazole  (ISO)
minocycline  (ISO)
ML-7  (EXP)
monascin  (EXP)
N,N-dimethylformamide  (EXP)
N-[2-[4-(2-methoxyphenyl)-1-piperazinyl]ethyl]-N-(2-pyridinyl)cyclohexanecarboxamide  (ISO)
N-acetyl-L-cysteine  (EXP,ISO)
N-formyl-L-methionyl-L-leucyl-L-phenylalanine  (EXP,ISO)
N-methyl-4-phenylpyridinium  (ISO)
N-methyl-D-aspartic acid  (EXP)
N-nitrosomorpholine  (ISO)
nebivolol  (ISO)
nicotine  (EXP)
nicotinic acid  (ISO)
nitroglycerin  (ISO)
oxalic acid  (EXP)
ozone  (ISO)
paracetamol  (EXP)
paraquat  (EXP,ISO)
patulin  (EXP)
phencyclidine  (ISO)
phenformin  (ISO)
phenol  (ISO)
phenylephrine  (ISO)
phorbol 13-acetate 12-myristate  (EXP)
pirinixic acid  (ISO)
potassium atom  (ISO)
prazosin  (ISO)
quercetin  (EXP,ISO)
reactive oxygen species  (EXP,ISO)
reserpine  (ISO)
resveratrol  (EXP,ISO)
rotenone  (ISO)
rottlerin  (ISO)
salvianolic acid B  (ISO)
SB 203580  (EXP)
silicon dioxide  (ISO)
sirolimus  (ISO)
sodium arsenate  (ISO)
sodium arsenite  (ISO)
streptozocin  (ISO)
succimer  (ISO)
sulforaphane  (EXP)
superoxide  (ISO)
tamibarotene  (EXP)
taurine  (ISO)
telmisartan  (ISO)
tert-butyl hydroperoxide  (EXP,ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
tetrahydrocurcumin  (ISO)
tetrathiomolybdate(2-)  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trandolapril  (ISO)
trichloroethene  (ISO)
triphenyl phosphate  (EXP)
triphenylstannane  (EXP)
troglitazone  (EXP,ISO)
tungsten  (ISO)
valproic acid  (EXP)
Y-27632  (EXP)
zinc atom  (ISO)
zinc dichloride  (ISO)
zinc protoporphyrin  (EXP)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IBA,IEA)
cytoplasmic side of plasma membrane  (IDA)
cytosol  (IDA,IEA,ISO,TAS)
dendrite  (IEA,ISO)
membrane  (IDA,IEA)
NADPH oxidase complex  (IBA,IDA,IEA,ISO,NAS,TAS)
neuronal cell body  (IEA,ISO)
phagolysosome  (TAS)
plasma membrane  (IDA,IEA,ISO,NAS)

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal pain  (IAGP)
Abnormal cardiac septum morphology  (IAGP)
Abnormal carotid artery morphology  (IAGP)
Abnormal cerebral vascular morphology  (IAGP)
Abnormal circulating lipid concentration  (IAGP)
Abnormal dental enamel morphology  (IAGP)
Abnormal dental morphology  (IAGP)
Abnormal dermatoglyphics  (IAGP)
Abnormal diencephalon morphology  (IAGP)
Abnormal endocardium morphology  (IAGP)
Abnormal fingernail morphology  (IAGP)
Abnormal form of the vertebral bodies  (IAGP)
Abnormal gastric mucosa morphology  (IAGP)
Abnormal nervous system morphology  (IAGP)
Abnormal pelvic girdle bone morphology  (IAGP)
Abnormal social behavior  (IAGP)
Abnormal speech pattern  (IAGP)
Abnormal tubulointerstitial morphology  (IAGP)
Abnormality of extrapyramidal motor function  (IAGP)
Abnormality of neutrophils  (IAGP)
Abnormality of the ankle  (IAGP)
Abnormality of the bladder  (IAGP)
Abnormality of the cardiovascular system  (IAGP)
Abnormality of the neck  (IAGP)
Abnormality of the voice  (IAGP)
Absence of bactericidal oxidative respiratory burst in phagocytes  (IAGP)
Adducted thumb  (IAGP)
Anxiety  (IAGP)
Aortic arch aneurysm  (IAGP)
Aplasia/Hypoplasia of the iris  (IAGP)
Arterial stenosis  (IAGP)
Arthralgia  (IAGP)
Ataxia  (IAGP)
Atrial septal defect  (IAGP)
Atrophy/Degeneration involving the corticospinal tracts  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Autism  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bicuspid aortic valve  (IAGP)
Bladder diverticulum  (IAGP)
Blepharophimosis  (IAGP)
Blue irides  (IAGP)
Broad forehead  (IAGP)
Cardiomegaly  (IAGP)
Carious teeth  (IAGP)
Cataract  (IAGP)
Cellulitis  (IAGP)
Cerebral cortical atrophy  (IAGP)
Cerebral ischemia  (IAGP)
Chiari malformation  (IAGP)
Cholelithiasis  (IAGP)
Chronic otitis media  (IAGP)
Chronic pulmonary obstruction  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Coarse facial features  (IAGP)
Colonic diverticula  (IAGP)
Compulsive behaviors  (IAGP)
Congestive heart failure  (IAGP)
Constipation  (IAGP)
Corneal opacity  (IAGP)
Cryptorchidism  (IAGP)
Cutaneous photosensitivity  (IAGP)
Death in early adulthood  (IAGP)
Decreased activity of NADPH oxidase  (IAGP)
Delayed skeletal maturation  (IAGP)
Dental malocclusion  (IAGP)
Depression  (IAGP)
Developmental regression  (IAGP)
Discoid lupus rash  (IAGP)
Down-sloping shoulders  (IAGP)
Dysarthria  (IAGP)
Dysgraphia  (IAGP)
Dysmetria  (IAGP)
Dysphonia  (IAGP)
Eczematoid dermatitis  (IAGP)
Elevated circulating creatine kinase concentration  (IAGP)
Elfin facies  (IAGP)
Epicanthus  (IAGP)
Everted lower lip vermilion  (IAGP)
Failure to thrive in infancy  (IAGP)
Fever  (IAGP)
Flat cornea  (IAGP)
Functional abnormality of male internal genitalia  (IAGP)
Gait disturbance  (IAGP)
Gait imbalance  (IAGP)
Gastroesophageal reflux  (IAGP)
Genu valgum  (IAGP)
Gingival overgrowth  (IAGP)
Gingivitis  (IAGP)
Glaucoma  (IAGP)
Granulomatosis  (IAGP)
Hallux valgus  (IAGP)
Hepatomegaly  (IAGP)
High forehead  (IAGP)
High hypermetropia  (IAGP)
Hoarse voice  (IAGP)
Hyperacusis  (IAGP)
Hypercalcemia  (IAGP)
Hypercalciuria  (IAGP)
Hyperlordosis  (IAGP)
Hypermelanotic macule  (IAGP)
Hyperreflexia  (IAGP)
Hypertension  (IAGP)
Hypertrophic cardiomyopathy  (IAGP)
Hypodontia  (IAGP)
Hypogonadotropic hypogonadism  (IAGP)
Hypoplasia of penis  (IAGP)
Hypoplasia of the zygomatic bone  (IAGP)
Hypoplastic toenails  (IAGP)
Hypothyroidism  (IAGP)
Hypotonia  (IAGP)
Immunodeficiency  (IAGP)
Impaired oxidative burst  (IAGP)
Increased bone mineral density  (IAGP)
Increased nuchal translucency  (IAGP)
Inflammatory abnormality of the eye  (IAGP)
Inguinal hernia  (IAGP)
Insomnia  (IAGP)
Intellectual disability  (IAGP)
Involuntary movements  (IAGP)
Joint hypermobility  (IAGP)
Joint stiffness  (IAGP)
Juvenile onset  (IAGP)
Kyphosis  (IAGP)
Lacrimation abnormality  (IAGP)
Liver abscess  (IAGP)
Long philtrum  (IAGP)
Lymphadenitis  (IAGP)
Lymphadenopathy  (IAGP)
Macroglossia  (IAGP)
Macrotia  (IAGP)
Macule  (IAGP)
Malabsorption  (IAGP)
Mediastinal lymphadenopathy  (IAGP)
Megalocornea  (IAGP)
Meningitis  (IAGP)
Microcephaly  (IAGP)
Microdontia  (IAGP)
Micrognathia  (IAGP)
Mitral regurgitation  (IAGP)
Mitral valve prolapse  (IAGP)
Multiple renal cysts  (IAGP)
Myocardial infarction  (IAGP)
Myopathy  (IAGP)
Myopia  (IAGP)
Narrow face  (IAGP)
Nausea and vomiting  (IAGP)
Nephrocalcinosis  (IAGP)
Nephrolithiasis  (IAGP)
Nevus flammeus  (IAGP)
Nystagmus-induced head nodding  (IAGP)
Obesity  (IAGP)
Open bite  (IAGP)
Osteomyelitis  (IAGP)
Osteopenia  (IAGP)
Osteoporosis  (IAGP)
Otitis media  (IAGP)
Overfriendliness  (IAGP)
Overriding aorta  (IAGP)
Patellar dislocation  (IAGP)
Patent ductus arteriosus  (IAGP)
Pectus excavatum  (IAGP)
Pelvic kidney  (IAGP)
Peptic ulcer  (IAGP)
Periorbital edema  (IAGP)
Peripheral pulmonary artery stenosis  (IAGP)
Pes planus  (IAGP)
Phonophobia  (IAGP)
Pleomorphic xanthoastrocytoma  (IAGP)
Pointed chin  (IAGP)
Polycystic ovaries  (IAGP)
Posterior embryotoxon  (IAGP)
Posteriorly rotated ears  (IAGP)
Precocious puberty  (IAGP)
Prematurely aged appearance  (IAGP)
Proteinuria  (IAGP)
Protruding ear  (IAGP)
Pulmonic stenosis  (IAGP)
Pyloric stenosis  (IAGP)
Radioulnar synostosis  (IAGP)
Rectal abscess  (IAGP)
Rectal prolapse  (IAGP)
Recurrent Aspergillus infections  (IAGP)
Recurrent bacterial skin infections  (IAGP)
Recurrent Burkholderia cepacia infections  (IAGP)
Recurrent E. coli infections  (IAGP)
Recurrent Klebsiella infections  (IAGP)
Recurrent pneumonia  (IAGP)
Recurrent respiratory infections  (IAGP)
Recurrent Serratia marcescens infections  (IAGP)
Recurrent Staphylococcus aureus infections  (IAGP)
Recurrent urinary tract infections  (IAGP)
Redundant skin  (IAGP)
Renal duplication  (IAGP)
Renal hypoplasia  (IAGP)
Renal insufficiency  (IAGP)
Renovascular hypertension  (IAGP)
Retinal arteriolar tortuosity  (IAGP)
Sacral dimple  (IAGP)
Scoliosis  (IAGP)
Sensorineural hearing impairment  (IAGP)
Sepsis  (IAGP)
Short nose  (IAGP)
Short stature  (IAGP)
Sinusitis  (IAGP)
Skin ulcer  (IAGP)
Spasticity  (IAGP)
Spina bifida occulta  (IAGP)
Splenomegaly  (IAGP)
Strabismus  (IAGP)
Stroke  (IAGP)
Sudden cardiac death  (IAGP)
Supravalvular aortic stenosis  (IAGP)
Synostosis of joints  (IAGP)
Tetralogy of Fallot  (IAGP)
Thick lower lip vermilion  (IAGP)
Tracheoesophageal fistula  (IAGP)
Tremor  (IAGP)
Type II diabetes mellitus  (IAGP)
Umbilical hernia  (IAGP)
Urethral stenosis  (IAGP)
Ventricular septal defect  (IAGP)
Vertebral segmentation defect  (IAGP)
Vesicoureteral reflux  (IAGP)
Visual impairment  (IAGP)
Wide mouth  (IAGP)
Wide nasal bridge  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Hemizygosity at the NCF1 gene in patients with Williams-Beuren syndrome decreases their risk of hypertension. Del Campo M, etal., Am J Hum Genet. 2006 Apr;78(4):533-42. Epub 2006 Jan 31.
2. Genes for two autosomal recessive forms of chronic granulomatous disease assigned to 1q25 (NCF2) and 7q11.23 (NCF1). Francke U, etal., Am J Hum Genet. 1990 Sep;47(3):483-92.
3. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
4. Positioning of a polymorphic quantitative trait nucleotide in the Ncf1 gene controlling oxidative burst response and arthritis severity in rats. Hultqvist M, etal., Antioxid Redox Signal. 2011 Jun 15;14(12):2373-83. doi: 10.1089/ars.2010.3440. Epub 2011 Mar 31.
5. Positional identification of Ncf1 as a gene that regulates arthritis severity in rats. Olofsson P, etal., Nat Genet 2003 Jan;33(1):25-32.
6. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
7. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
8. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
9. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
10. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
11. Tetrahydrocurcumin ameliorates homocysteinylated cytochrome-c mediated autophagy in hyperhomocysteinemia mice after cerebral ischemia. Tyagi N, etal., J Mol Neurosci. 2012 May;47(1):128-38. doi: 10.1007/s12031-011-9695-z. Epub 2012 Jan 3.
12. In vitro molecular reconstitution of the respiratory burst in B lymphoblasts from p47-phox-deficient chronic granulomatous disease. Volpp BD and Lin Y, J Clin Invest. 1993 Jan;91(1):201-7.
Additional References at PubMed
PMID:2011585   PMID:2398896   PMID:2547247   PMID:2550933   PMID:2848318   PMID:7545954   PMID:7938008   PMID:8089108   PMID:8125298   PMID:8280052   PMID:8550629   PMID:8766817  
PMID:9083043   PMID:9121467   PMID:9255350   PMID:9329953   PMID:9914162   PMID:10369419   PMID:10436021   PMID:10486263   PMID:10772875   PMID:10899172   PMID:11027608   PMID:11094157  
PMID:11120743   PMID:11133775   PMID:11145703   PMID:11248021   PMID:11258927   PMID:11278853   PMID:11373621   PMID:11375989   PMID:11485312   PMID:11535139   PMID:11716484   PMID:11733522  
PMID:11740866   PMID:11741599   PMID:11796733   PMID:11893732   PMID:12023963   PMID:12056906   PMID:12169629   PMID:12176908   PMID:12356722   PMID:12477932   PMID:12539042   PMID:12618429  
PMID:12681507   PMID:12732142   PMID:12734380   PMID:12853948   PMID:12855698   PMID:14694110   PMID:15489334   PMID:15618548   PMID:15629715   PMID:15657040   PMID:15759055   PMID:16040349  
PMID:16052631   PMID:16189514   PMID:16297854   PMID:16326715   PMID:16330715   PMID:16375898   PMID:16608528   PMID:16778989   PMID:16782902   PMID:16844764   PMID:17150107   PMID:17207965  
PMID:17217339   PMID:17438039   PMID:17478731   PMID:17586618   PMID:17651608   PMID:17803994   PMID:17922419   PMID:17925180   PMID:18004884   PMID:18028450   PMID:18045865   PMID:18070887  
PMID:18287880   PMID:18390927   PMID:18424721   PMID:18523147   PMID:18546332   PMID:18765662   PMID:18983267   PMID:19077231   PMID:19129478   PMID:19130504   PMID:19192478   PMID:19329991  
PMID:19366706   PMID:19410294   PMID:19632255   PMID:19717732   PMID:19807924   PMID:19833721   PMID:19929442   PMID:19948975   PMID:20167518   PMID:20178640   PMID:20301427   PMID:20407811  
PMID:20495074   PMID:20592030   PMID:20817944   PMID:20856870   PMID:20946164   PMID:21506107   PMID:21518975   PMID:21566280   PMID:21728841   PMID:21789723   PMID:21791598   PMID:21813271  
PMID:21873635   PMID:21911753   PMID:21956105   PMID:22219181   PMID:22460559   PMID:22493288   PMID:22690528   PMID:22745667   PMID:22798525   PMID:22876374   PMID:23216310   PMID:23386289  
PMID:23393912   PMID:23671702   PMID:23688784   PMID:23870057   PMID:23975181   PMID:24081483   PMID:24126171   PMID:24596025   PMID:24598074   PMID:24967690   PMID:25239440   PMID:25761062  
PMID:25825872   PMID:25877926   PMID:25910212   PMID:25981738   PMID:26317224   PMID:26460255   PMID:26514923   PMID:26561776   PMID:26728380   PMID:26760964   PMID:27040869   PMID:27048830  
PMID:27343196   PMID:27531930   PMID:27723093   PMID:27765769   PMID:28135245   PMID:28240310   PMID:28514442   PMID:28606963   PMID:28939422   PMID:29195919   PMID:29311151   PMID:29331982  
PMID:29360265   PMID:29411231   PMID:30078213   PMID:30323221   PMID:30465301   PMID:30470980   PMID:30580571   PMID:30630949   PMID:30651282   PMID:30833792   PMID:30963593   PMID:31492810  
PMID:31704719   PMID:31705128   PMID:31973815   PMID:32296183   PMID:32814053   PMID:33596590   PMID:33903979   PMID:33961781   PMID:34189442   PMID:34556485   PMID:34708124   PMID:35108370  
PMID:36163178   PMID:36626553   PMID:36681688   PMID:37243946   PMID:38334954   PMID:38580884  


Genomics

Comparative Map Data
NCF1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38774,774,011 - 74,789,315 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl774,774,011 - 74,789,315 (+)EnsemblGRCh38hg38GRCh38
GRCh37774,188,358 - 74,203,659 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36773,826,245 - 73,841,595 (+)NCBINCBI36Build 36hg18NCBI36
Build 34774,017,096 - 74,032,410NCBI
Cytogenetic Map7q11.23NCBI
CHM1_1774,333,378 - 74,348,792 (+)NCBICHM1_1
T2T-CHM13v2.0775,976,304 - 75,991,631 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2773,521,373 - 73,536,784NCBI
Ncf1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395134,248,907 - 134,258,479 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl5134,248,907 - 134,258,479 (-)EnsemblGRCm39 Ensembl
GRCm385134,220,053 - 134,229,628 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5134,220,053 - 134,229,625 (-)EnsemblGRCm38mm10GRCm38
MGSCv375134,696,130 - 134,705,495 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv365134,504,886 - 134,514,206 (-)NCBIMGSCv36mm8
Celera5131,223,583 - 131,232,950 (-)NCBICelera
Cytogenetic Map5G2NCBI
cM Map574.47NCBI
Ncf1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81228,121,816 - 28,131,080 (+)NCBIGRCr8
mRatBN7.21222,485,382 - 22,494,647 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1222,485,451 - 22,494,646 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1223,628,473 - 23,637,751 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01224,239,570 - 24,248,848 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01223,305,038 - 23,314,250 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01225,497,104 - 25,506,300 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1225,497,104 - 25,506,300 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01227,505,793 - 27,514,989 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41223,578,097 - 23,587,292 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11223,441,312 - 23,450,507 (+)NCBI
Celera1224,246,402 - 24,255,599 (+)NCBICelera
Cytogenetic Map12q12NCBI
Ncf1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545613,354,011 - 13,363,891 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495545613,353,780 - 13,363,956 (-)NCBIChiLan1.0ChiLan1.0
NCF1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2690,107,213 - 90,128,059 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan17138,371,836 - 138,392,363 (-)NCBINHGRI_mPanPan1
PanPan1.1781,917,167 - 81,932,589 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl781,917,167 - 81,932,589 (+)Ensemblpanpan1.1panPan2
NCF1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.165,702,222 - 5,719,515 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl65,605,694 - 5,719,458 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha67,403,701 - 7,421,192 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.065,518,899 - 5,536,384 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl65,518,899 - 5,540,134 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.165,510,772 - 5,528,223 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.065,457,618 - 5,474,840 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.065,619,880 - 5,637,152 (-)NCBIUU_Cfam_GSD_1.0
Ncf1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344130,406,743 - 130,420,026 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365433,617,372 - 3,630,997 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365433,617,369 - 3,630,990 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NCF1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl311,820,266 - 11,839,354 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1311,820,367 - 11,834,394 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2311,538,926 - 11,552,955 (+)NCBISscrofa10.2Sscrofa10.2susScr3
NCF1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1288,334,172 - 8,349,828 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl288,332,772 - 8,349,804 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660708,253,552 - 8,269,564 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ncf1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474013,429,476 - 13,439,807 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474013,428,375 - 13,439,915 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NCF1
43 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000265.7(NCF1):c.75_76del (p.Tyr26fs) microsatellite Granulomatous disease, chronic, X-linked [RCV002283438]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 [RCV000002337]|not provided [RCV001090891] Chr7:74777267..74777268 [GRCh38]
Chr7:74191613..74191614 [GRCh37]
Chr7:7q11.23
pathogenic
NM_000265.7(NCF1):c.502del (p.Glu168fs) deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 [RCV000002338] Chr7:74782989 [GRCh38]
Chr7:74197332 [GRCh37]
Chr7:7q11.23
pathogenic
NM_000265.7(NCF1):c.125G>A (p.Arg42Gln) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 [RCV000002339]|not provided [RCV001557272] Chr7:74777319 [GRCh38]
Chr7:74191665 [GRCh37]
Chr7:7q11.23
pathogenic
NM_000265.7(NCF1):c.811del (p.Val271fs) deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 [RCV000002340] Chr7:74787994 [GRCh38]
Chr7:74202338 [GRCh37]
Chr7:7q11.23
pathogenic
NM_000265.7(NCF1):c.271C>T (p.Gln91Ter) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 [RCV000002341] Chr7:74779298 [GRCh38]
Chr7:74193644 [GRCh37]
Chr7:7q11.23
pathogenic
NM_000265.7(NCF1):c.333T>A (p.Cys111Ter) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 [RCV000002342] Chr7:74779360 [GRCh38]
Chr7:74193706 [GRCh37]
Chr7:7q11.23
pathogenic
NM_000265.7(NCF1):c.574G>A (p.Gly192Ser) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 [RCV000002343] Chr7:74783061 [GRCh38]
Chr7:74197404 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh38/hg38 7q11.22-21.11(chr7:71225344-81735657)x1 copy number loss See cases [RCV000050709] Chr7:71225344..81735657 [GRCh38]
Chr7:70690330..81364973 [GRCh37]
Chr7:70328266..81202909 [NCBI36]
Chr7:7q11.22-21.11
pathogenic
GRCh38/hg38 7q11.23(chr7:73352304-74924037)x1 copy number loss See cases [RCV000051134] Chr7:73352304..74924037 [GRCh38]
Chr7:72766313..74339044 [GRCh37]
Chr7:72404249..73976980 [NCBI36]
Chr7:7q11.23
pathogenic
GRCh38/hg38 7q11.23(chr7:72930548-74869255)x1 copy number loss See cases [RCV000050996] Chr7:72930548..74869255 [GRCh38]
Chr7:72401086..74285345 [GRCh37]
Chr7:72039022..73923281 [NCBI36]
Chr7:7q11.23
pathogenic
GRCh38/hg38 7q11.23(chr7:73352304-74869255)x1 copy number loss See cases [RCV000050999] Chr7:73352304..74869255 [GRCh38]
Chr7:72766313..74285345 [GRCh37]
Chr7:72404249..73923281 [NCBI36]
Chr7:7q11.23
pathogenic
GRCh38/hg38 7q11.21-21.11(chr7:64560824-79186156)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052318]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052318]|See cases [RCV000052318] Chr7:64560824..79186156 [GRCh38]
Chr7:64021202..78815472 [GRCh37]
Chr7:63658637..78653408 [NCBI36]
Chr7:7q11.21-21.11
pathogenic
GRCh38/hg38 7q11.22-11.23(chr7:72649515-75361855)x3 copy number gain See cases [RCV000051965] Chr7:72649515..75361855 [GRCh38]
Chr7:72196405..74991125 [GRCh37]
Chr7:71752436..74829061 [NCBI36]
Chr7:7q11.22-11.23
pathogenic
GRCh38/hg38 7q11.23(chr7:72768821-74869255)x3 copy number gain See cases [RCV000051966] Chr7:72768821..74869255 [GRCh38]
Chr7:72233835..74285345 [GRCh37]
Chr7:71871771..73923281 [NCBI36]
Chr7:7q11.23
pathogenic
GRCh38/hg38 7q11.23(chr7:73280574-74839100)x3 copy number gain See cases [RCV000051989] Chr7:73280574..74839100 [GRCh38]
Chr7:72683244..74267189 [GRCh37]
Chr7:72321180..73905125 [NCBI36]
Chr7:7q11.23
pathogenic
GRCh38/hg38 7q11.23(chr7:73352104-74924178)x3 copy number gain See cases [RCV000051991] Chr7:73352104..74924178 [GRCh38]
Chr7:72766113..74339185 [GRCh37]
Chr7:72404049..73977121 [NCBI36]
Chr7:7q11.23
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7q11.22-11.23(chr7:69382353-77823832)x1 copy number loss See cases [RCV000054111] Chr7:69382353..77823832 [GRCh38]
Chr7:68847339..77453149 [GRCh37]
Chr7:68485275..77291085 [NCBI36]
Chr7:7q11.22-11.23
pathogenic
GRCh38/hg38 7q11.23-21.11(chr7:73873420-83988860)x1 copy number loss See cases [RCV000054118] Chr7:73873420..83988860 [GRCh38]
Chr7:73992744..83618176 [GRCh37]
Chr7:72925686..83456112 [NCBI36]
Chr7:7q11.23-21.11
pathogenic
GRCh38/hg38 7q11.23(chr7:74176025-75361855)x1 copy number loss See cases [RCV000054121] Chr7:74176025..75361855 [GRCh38]
Chr7:73992744..74991125 [GRCh37]
Chr7:73228291..74829061 [NCBI36]
Chr7:7q11.23
pathogenic
NM_000265.5(NCF1):c.652G>A (p.Glu218Lys) single nucleotide variant Malignant melanoma [RCV000061678] Chr7:74783602 [GRCh38]
Chr7:74197945 [GRCh37]
Chr7:73835881 [NCBI36]
Chr7:7q11.23
not provided
GRCh38/hg38 7q11.23(chr7:73352304-76722261)x1 copy number loss See cases [RCV000133638] Chr7:73352304..76722261 [GRCh38]
Chr7:72766313..76351578 [GRCh37]
Chr7:72404249..76189514 [NCBI36]
Chr7:7q11.23
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7q11.23(chr7:73040501-75255046)x3 copy number gain See cases [RCV000135712] Chr7:73040501..75255046 [GRCh38]
Chr7:74285295..76351578 [GRCh37]
Chr7:73923231..76189514 [NCBI36]
Chr7:7q11.23
uncertain significance
GRCh38/hg38 7q11.23(chr7:72938064-74779028)x3 copy number gain See cases [RCV000136287] Chr7:72938064..74779028 [GRCh38]
Chr7:72408602..74193374 [GRCh37]
Chr7:72046538..73831310 [NCBI36]
Chr7:7q11.23
pathogenic
GRCh38/hg38 7q11.23(chr7:73280574-74924007)x1 copy number loss See cases [RCV000136391] Chr7:73280574..74924007 [GRCh38]
Chr7:72636006..74339014 [GRCh37]
Chr7:72273942..73976950 [NCBI36]
Chr7:7q11.23
pathogenic
GRCh38/hg38 7q11.23(chr7:73352303-74779051)x1 copy number loss See cases [RCV000136014] Chr7:73352303..74779051 [GRCh38]
Chr7:72766312..74193397 [GRCh37]
Chr7:72404248..73831333 [NCBI36]
Chr7:7q11.23
pathogenic
GRCh38/hg38 7q11.23(chr7:73352303-74924023)x1 copy number loss See cases [RCV000136076] Chr7:73352303..74924023 [GRCh38]
Chr7:72766312..74339030 [GRCh37]
Chr7:72404248..73976966 [NCBI36]
Chr7:7q11.23
pathogenic
GRCh38/hg38 7q11.23(chr7:74047652-74924037)x1 copy number loss See cases [RCV000136944] Chr7:74047652..74924037 [GRCh38]
Chr7:73099918..73976980 [NCBI36]
Chr7:7q11.23
pathogenic
GRCh38/hg38 7q11.23(chr7:73192369-74779057)x3 copy number gain See cases [RCV000138102] Chr7:73192369..74779057 [GRCh38]
Chr7:72606409..74193403 [GRCh37]
Chr7:72244345..73831339 [NCBI36]
Chr7:7q11.23
pathogenic
GRCh38/hg38 7q11.23(chr7:73192369-74779057)x1 copy number loss See cases [RCV000138103] Chr7:73192369..74779057 [GRCh38]
Chr7:72606409..74193403 [GRCh37]
Chr7:72244345..73831339 [NCBI36]
Chr7:7q11.23
pathogenic
GRCh38/hg38 7q11.23(chr7:73040501-75255046)x3 copy number gain See cases [RCV000137731] Chr7:73040501..75255046 [GRCh38]
Chr7:72635638..74904285 [NCBI36]
Chr7:7q11.23
pathogenic
GRCh38/hg38 7q11.23(chr7:73280574-74779057)x3 copy number gain See cases [RCV000139121] Chr7:73280574..74779057 [GRCh38]
Chr7:72663962..74193403 [GRCh37]
Chr7:72301898..73831339 [NCBI36]
Chr7:7q11.23
pathogenic
GRCh38/hg38 7q11.23(chr7:73192369-74869255)x1 copy number loss See cases [RCV000139190] Chr7:73192369..74869255 [GRCh38]
Chr7:72606409..74285345 [GRCh37]
Chr7:72244345..73923281 [NCBI36]
Chr7:7q11.23
pathogenic
GRCh38/hg38 7q11.23(chr7:73286412-74869255)x1 copy number loss See cases [RCV000139797] Chr7:73286412..74869255 [GRCh38]
Chr7:72700414..74285345 [GRCh37]
Chr7:72338350..73923281 [NCBI36]
Chr7:7q11.23
pathogenic
GRCh38/hg38 7q11.23(chr7:73286412-74779057)x1 copy number loss See cases [RCV000140662] Chr7:73286412..74779057 [GRCh38]
Chr7:72700414..74193403 [GRCh37]
Chr7:72338350..73831339 [NCBI36]
Chr7:7q11.23
pathogenic
GRCh38/hg38 7q11.23(chr7:73192369-74883978)x3 copy number gain See cases [RCV000140718] Chr7:73192369..74883978 [GRCh38]
Chr7:72606409..74300084 [GRCh37]
Chr7:72244345..73938020 [NCBI36]
Chr7:7q11.23
pathogenic
GRCh38/hg38 7q11.23-21.11(chr7:74377395-82031742)x1 copy number loss See cases [RCV000142381] Chr7:74377395..82031742 [GRCh38]
Chr7:73992744..81661058 [GRCh37]
Chr7:73429661..81498994 [NCBI36]
Chr7:7q11.23-21.11
pathogenic
GRCh38/hg38 7q11.23(chr7:73280574-74789341)x1 copy number loss See cases [RCV000142414] Chr7:73280574..74789341 [GRCh38]
Chr7:72637824..74203685 [GRCh37]
Chr7:72275760..73841621 [NCBI36]
Chr7:7q11.23
pathogenic
GRCh38/hg38 7q11.21-11.23(chr7:62977085-75415352)x3 copy number gain See cases [RCV000142242] Chr7:62977085..75415352 [GRCh38]
Chr7:62437463..75044630 [GRCh37]
Chr7:62074898..74882566 [NCBI36]
Chr7:7q11.21-11.23
pathogenic
GRCh38/hg38 7q11.21-11.23(chr7:62736364-75432710)x1 copy number loss See cases [RCV000142528] Chr7:62736364..75432710 [GRCh38]
Chr7:62196742..75061986 [GRCh37]
Chr7:61834177..74899922 [NCBI36]
Chr7:7q11.21-11.23
pathogenic
GRCh38/hg38 7q11.23(chr7:73352304-75065728)x3 copy number gain See cases [RCV000142690] Chr7:73352304..75065728 [GRCh38]
Chr7:72766313..74481540 [GRCh37]
Chr7:72404249..74119476 [NCBI36]
Chr7:7q11.23
pathogenic
GRCh38/hg38 7q11.23(chr7:73352304-74924037)x1 copy number loss See cases [RCV000148081] Chr7:73352304..74924037 [GRCh38]
Chr7:72766313..74339044 [GRCh37]
Chr7:72404249..73976980 [NCBI36]
Chr7:7q11.23
pathogenic
GRCh38/hg38 7q11.22-21.11(chr7:72179092-79164071) copy number gain See cases [RCV000143454] Chr7:72179092..79164071 [GRCh38]
Chr7:71644077..78793387 [GRCh37]
Chr7:71282013..78631323 [NCBI36]
Chr7:7q11.22-21.11
likely pathogenic
GRCh38/hg38 7q11.23(chr7:74068087-75068321)x3 copy number gain See cases [RCV000141316] Chr7:74068087..75068321 [GRCh38]
Chr7:73482417..74481540 [GRCh37]
Chr7:73120353..74119476 [NCBI36]
Chr7:7q11.23
likely benign
GRCh37/hg19 7q11.23(chr7:72708237-74339044)x1 copy number loss See cases [RCV000239823] Chr7:72708237..74339044 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7q11.23(chr7:72722981-74217390)x1 copy number loss See cases [RCV000258813] Chr7:72722981..74217390 [GRCh37]
Chr7:7q11.23
pathogenic|likely pathogenic
GRCh37/hg19 7q11.23(chr7:73591993-75914797)x1 copy number loss See cases [RCV000240532] Chr7:73591993..75914797 [GRCh37]
Chr7:7q11.23
likely pathogenic
NM_000265.7(NCF1):c.186dup (p.Gly63fs) duplication not provided [RCV000366139] Chr7:74779113..74779114 [GRCh38]
Chr7:74193459..74193460 [GRCh37]
Chr7:7q11.23
pathogenic
NM_000265.7(NCF1):c.579G>A (p.Trp193Ter) single nucleotide variant Chronic granulomatous disease [RCV002298619]|Chronic granulomatous disease due to deficiency of NCF-1 [RCV000991165]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 [RCV000763595]|not provided [RCV000489061] Chr7:74783529 [GRCh38]
Chr7:74197872 [GRCh37]
Chr7:7q11.23
pathogenic|likely pathogenic
NM_000265.7(NCF1):c.73-3C>A single nucleotide variant not provided [RCV000489501] Chr7:74777264 [GRCh38]
Chr7:74191610 [GRCh37]
Chr7:7q11.23
uncertain significance
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_000265.6(NCF1):c.*179G>A single nucleotide variant Hypertrophic cardiomyopathy 4 [RCV000416494] Chr7:74789339 [GRCh38]
Chr7:74203683 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7q11.23(chr7:72472922-74259176)x3 copy number gain See cases [RCV000448344] Chr7:72472922..74259176 [GRCh37]
Chr7:7q11.23
pathogenic
NM_000265.7(NCF1):c.295= (p.Ser99=) single nucleotide variant not provided [RCV003660806]|not specified [RCV000454377] Chr7:74779322 [GRCh38]
Chr7:74193668 [GRCh37]
Chr7:7q11.23
benign
NM_000265.7(NCF1):c.153+14= single nucleotide variant not provided [RCV004712846]|not specified [RCV000455523] Chr7:74777361 [GRCh38]
Chr7:74191707 [GRCh37]
Chr7:7q11.23
benign
GRCh37/hg19 7q11.23(chr7:72718277-74287433)x1 copy number loss See cases [RCV000510195] Chr7:72718277..74287433 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7q11.23(chr7:72718277-74259899)x1 copy number loss See cases [RCV000510198] Chr7:72718277..74259899 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q11.23(chr7:72456604-76007380)x1 copy number loss See cases [RCV000510782] Chr7:72456604..76007380 [GRCh37]
Chr7:7q11.23
pathogenic
NM_000265.7(NCF1):c.512C>T (p.Ser171Leu) single nucleotide variant Inborn genetic diseases [RCV003254216] Chr7:74782999 [GRCh38]
Chr7:74197342 [GRCh37]
Chr7:7q11.23
uncertain significance
GRCh37/hg19 7q11.23(chr7:72536980-74629034)x1 copy number loss See cases [RCV000512310] Chr7:72536980..74629034 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7q11.23(chr7:72577021-74197846)x3 copy number gain See cases [RCV000512328] Chr7:72577021..74197846 [GRCh37]
Chr7:7q11.23
pathogenic
Single allele deletion not provided [RCV000677988] Chr7:73591993..93683437 [GRCh37]
Chr7:7q11.23-21.3
uncertain significance
GRCh37/hg19 7q11.23(chr7:72608514-74386749)x1 copy number loss not provided [RCV000682892] Chr7:72608514..74386749 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7q11.23(chr7:72612042-74574641)x1 copy number loss not provided [RCV000682895] Chr7:72612042..74574641 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7q11.23(chr7:72589515-74386749)x1 copy number loss not provided [RCV000682894] Chr7:72589515..74386749 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7q11.23(chr7:72577021-74859638)x3 copy number gain not provided [RCV000682898] Chr7:72577021..74859638 [GRCh37]
Chr7:7q11.23
pathogenic
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv inversion Childhood apraxia of speech [RCV000234948] Chr7:21001537..114528369 [GRCh37]
Chr7:7p15.3-q31.1
pathogenic
GRCh37/hg19 7q11.23(chr7:74191613-74191693)x1 copy number loss not provided [RCV001531698] Chr7:74191613..74191693 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7q11.23(chr7:72305671-74196360)x1 copy number loss not provided [RCV000746789] Chr7:72305671..74196360 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7q11.23(chr7:72722981-74200092)x1 copy number loss not provided [RCV000746794] Chr7:72722981..74200092 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q11.23(chr7:72719386-74218536)x1 copy number loss not provided [RCV000746793] Chr7:72719386..74218536 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_000265.7(NCF1):c.345C>T (p.Leu115=) single nucleotide variant not provided [RCV001703071]|not specified [RCV001724411] Chr7:74779372 [GRCh38]
Chr7:74193718 [GRCh37]
Chr7:7q11.23
benign|likely benign
NM_000265.7(NCF1):c.153+36C>T single nucleotide variant not provided [RCV001612594] Chr7:74777383 [GRCh38]
Chr7:74191729 [GRCh37]
Chr7:7q11.23
benign
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q11.23(chr7:72744494-74339044) copy number loss Williams syndrome [RCV000767637] Chr7:72744494..74339044 [GRCh37]
Chr7:7q11.23
pathogenic
NM_000265.7(NCF1):c.108G>A (p.Ser36=) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 [RCV000768029] Chr7:74777302 [GRCh38]
Chr7:74191648 [GRCh37]
Chr7:7q11.23
uncertain significance
GRCh37/hg19 7q11.23(chr7:72744494-76038818) copy number loss Williams syndrome [RCV000767638] Chr7:72744494..76038818 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7q11.23(chr7:72621722-76007380)x1 copy number loss not provided [RCV001005967] Chr7:72621722..76007380 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7q11.23(chr7:73799886-75388031)x1 copy number loss not provided [RCV000848421] Chr7:73799886..75388031 [GRCh37]
Chr7:7q11.23
pathogenic
NM_000265.7(NCF1):c.124C>T (p.Arg42Trp) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 [RCV001283823]|not provided [RCV000788442] Chr7:74777318 [GRCh38]
Chr7:74191664 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7q11.23(chr7:74142189-74400363)x3 copy number gain not provided [RCV000846667] Chr7:74142189..74400363 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_000265.7(NCF1):c.285_288dup (p.Tyr97fs) duplication Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 [RCV004760786]|not provided [RCV000788640] Chr7:74779311..74779312 [GRCh38]
Chr7:74193657..74193658 [GRCh37]
Chr7:7q11.23
likely pathogenic
GRCh37/hg19 7q11.23(chr7:74191613-74191693)x3 copy number gain not provided [RCV001090292] Chr7:74191613..74191693 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7q11.23(chr7:74165273-74628840)x3 copy number gain not provided [RCV000849231] Chr7:74165273..74628840 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_000265.7(NCF1):c.496A>G (p.Asn166Asp) single nucleotide variant not provided [RCV001700950]|not specified [RCV001727981] Chr7:74782983 [GRCh38]
Chr7:74197326 [GRCh37]
Chr7:7q11.23
benign|likely benign
NM_000265.7(NCF1):c.292T>G (p.Cys98Gly) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 [RCV002488352]|not provided [RCV001529666] Chr7:74779319 [GRCh38]
Chr7:74193665 [GRCh37]
Chr7:7q11.23
likely benign|uncertain significance
NM_000265.7(NCF1):c.269G>A (p.Arg90His) single nucleotide variant Granulomatous disease, chronic, X-linked [RCV002283554]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 [RCV002503173]|not provided [RCV001723292] Chr7:74779296 [GRCh38]
Chr7:74193642 [GRCh37]
Chr7:7q11.23
likely pathogenic|uncertain significance
NM_000265.7(NCF1):c.153+220C>T single nucleotide variant not provided [RCV001649485] Chr7:74777567 [GRCh38]
Chr7:74191913 [GRCh37]
Chr7:7q11.23
likely benign
GRCh37/hg19 7q11.23(chr7:74191613-74191693)x0 copy number loss not provided [RCV001092784] Chr7:74191613..74191693 [GRCh37]
Chr7:7q11.23
pathogenic
NM_000265.7(NCF1):c.153+73G>C single nucleotide variant not provided [RCV001679105] Chr7:74777420 [GRCh38]
Chr7:74191766 [GRCh37]
Chr7:7q11.23
benign
GRCh37/hg19 7q11.23(chr7:72589195-74225562) copy number loss Williams syndrome [RCV002280675] Chr7:72589195..74225562 [GRCh37]
Chr7:7q11.23
pathogenic
NM_000265.7(NCF1):c.923C>T (p.Ala308Val) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 [RCV001267775] Chr7:74788576 [GRCh38]
Chr7:74202920 [GRCh37]
Chr7:7q11.23
likely benign
GRCh37/hg19 7q11.23(chr7:72403117-76709600)x1 copy number loss not provided [RCV001258798] Chr7:72403117..76709600 [GRCh37]
Chr7:7q11.23
pathogenic
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_000265.7(NCF1):c.153+107C>T single nucleotide variant not provided [RCV001709192] Chr7:74777454 [GRCh38]
Chr7:74191800 [GRCh37]
Chr7:7q11.23
benign
NM_000265.4:c.75_76del deletion not provided [RCV001756422]   pathogenic
NM_000265.7(NCF1):c.582G>A (p.Trp194Ter) single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 [RCV001784716] Chr7:74783532 [GRCh38]
Chr7:74197875 [GRCh37]
Chr7:7q11.23
pathogenic
NM_000265.7(NCF1):c.936C>T (p.His312=) single nucleotide variant not provided [RCV001794951] Chr7:74788589 [GRCh38]
Chr7:74202933 [GRCh37]
Chr7:7q11.23
likely benign
NM_000265.7(NCF1):c.153+14T>C single nucleotide variant not specified [RCV002250126] Chr7:74777361 [GRCh38]
Chr7:74191707 [GRCh37]
Chr7:7q11.23
benign
GRCh37/hg19 7q11.23(chr7:72589515-74629034) copy number loss Williams syndrome [RCV002280676] Chr7:72589515..74629034 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3
uncertain significance
NM_000265.7(NCF1):c.575-6G>A single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 [RCV003131696] Chr7:74783519 [GRCh38]
Chr7:74197862 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_000265.7(NCF1):c.571A>T (p.Ser191Cys) single nucleotide variant Inborn genetic diseases [RCV003181277] Chr7:74783058 [GRCh38]
Chr7:74197401 [GRCh37]
Chr7:7q11.23
uncertain significance
NC_000007.13:g.(74188451_74191612)_(74193769_74195125)dup duplication Chronic granulomatous disease [RCV003226658] Chr7:74191612..74193769 [GRCh37]
Chr7:7q11.23
likely pathogenic
NM_000265.7(NCF1):c.220C>T (p.His74Tyr) single nucleotide variant Inborn genetic diseases [RCV003178810] Chr7:74779148 [GRCh38]
Chr7:74193494 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_000265.7(NCF1):c.621G>A (p.Ala207=) single nucleotide variant not provided [RCV003457505] Chr7:74783571 [GRCh38]
Chr7:74197914 [GRCh37]
Chr7:7q11.23
likely benign
GRCh37/hg19 7q11.23(chr7:72547476-74263704)x3 copy number gain not provided [RCV003484684] Chr7:72547476..74263704 [GRCh37]
Chr7:7q11.23
pathogenic
NM_000265.7(NCF1):c.247G>A (p.Gly83Arg) single nucleotide variant not provided [RCV003423624] Chr7:74779274 [GRCh38]
Chr7:74193620 [GRCh37]
Chr7:7q11.23
benign
NM_000265.7(NCF1):c.1051+36C>G single nucleotide variant not specified [RCV003488839] Chr7:74788740 [GRCh38]
Chr7:74203084 [GRCh37]
Chr7:7q11.23
benign
NM_000265.7(NCF1):c.1050C>G (p.Leu350=) single nucleotide variant not provided [RCV003433892] Chr7:74788703 [GRCh38]
Chr7:74203047 [GRCh37]
Chr7:7q11.23
likely benign
NM_000265.7(NCF1):c.207C>T (p.Asn69=) single nucleotide variant not provided [RCV003433891] Chr7:74779135 [GRCh38]
Chr7:74193481 [GRCh37]
Chr7:7q11.23
likely benign
NM_000265.7(NCF1):c.295A>G (p.Ser99Gly) single nucleotide variant not provided [RCV003666552] Chr7:74779322 [GRCh38]
Chr7:74193668 [GRCh37]
Chr7:7q11.23
benign
GRCh37/hg19 7q11.21-11.23(chr7:66776724-74629034)x3 copy number gain not specified [RCV003986715] Chr7:66776724..74629034 [GRCh37]
Chr7:7q11.21-11.23
pathogenic
GRCh37/hg19 7q11.23(chr7:72732819-76003862)x3 copy number gain not specified [RCV003986700] Chr7:72732819..76003862 [GRCh37]
Chr7:7q11.23
pathogenic
NM_000265.7(NCF1):c.387G>A (p.Thr129=) single nucleotide variant not provided [RCV003992915] Chr7:74779414 [GRCh38]
Chr7:74193760 [GRCh37]
Chr7:7q11.23
likely benign
NM_000265.7(NCF1):c.1034G>A (p.Ser345Asn) single nucleotide variant Inborn genetic diseases [RCV004473458] Chr7:74788687 [GRCh38]
Chr7:74203031 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_000265.7(NCF1):c.1045C>G (p.Pro349Ala) single nucleotide variant Inborn genetic diseases [RCV004473464] Chr7:74788698 [GRCh38]
Chr7:74203042 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_000265.7(NCF1):c.955C>T (p.Leu319Phe) single nucleotide variant Inborn genetic diseases [RCV004473497] Chr7:74788608 [GRCh38]
Chr7:74202952 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_000265.7(NCF1):c.1048C>T (p.Leu350Phe) single nucleotide variant Inborn genetic diseases [RCV004473473] Chr7:74788701 [GRCh38]
Chr7:74203045 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_000265.7(NCF1):c.262G>A (p.Glu88Lys) single nucleotide variant Inborn genetic diseases [RCV004473482] Chr7:74779289 [GRCh38]
Chr7:74193635 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_000265.7(NCF1):c.1019G>T (p.Arg340Leu) single nucleotide variant Inborn genetic diseases [RCV004473456] Chr7:74788672 [GRCh38]
Chr7:74203016 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_000265.7(NCF1):c.682+5C>T single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 [RCV004547376] Chr7:74783637 [GRCh38]
Chr7:74197980 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_000265.7(NCF1):c.304A>G (p.Met102Val) single nucleotide variant Inborn genetic diseases [RCV004473484] Chr7:74779331 [GRCh38]
Chr7:74193677 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_000265.7(NCF1):c.526G>T (p.Ala176Ser) single nucleotide variant Inborn genetic diseases [RCV004473489] Chr7:74783013 [GRCh38]
Chr7:74197356 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_000265.7(NCF1):c.309C>A (p.Ser103Arg) single nucleotide variant Inborn genetic diseases [RCV004652498] Chr7:74779336 [GRCh38]
Chr7:74193682 [GRCh37]
Chr7:7q11.23
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3541
Count of miRNA genes:950
Interacting mature miRNAs:1168
Transcripts:ENST00000289473, ENST00000398421, ENST00000433458, ENST00000438106, ENST00000442021, ENST00000443956, ENST00000449343, ENST00000455062, ENST00000464878, ENST00000486097, ENST00000488197
Prediction methods:Microtar, Miranda, 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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407180831GWAS829807_HC-reactive protein measurement QTL GWAS829807 (human)1e-10C-reactive protein measurementblood C-reactive protein level (CMO:0003160)77478189974781900Human
406914687GWAS563663_Hsystemic lupus erythematosus QTL GWAS563663 (human)3e-194systemic lupus erythematosus77478184074781841Human
406914686GWAS563662_Hsystemic lupus erythematosus QTL GWAS563662 (human)4e-62systemic lupus erythematosus77478128874781289Human

Markers in Region
G54020  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7q11.23UniSTS
RH45388  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7q11.23UniSTS
GeneMap99-GB4 RH Map19299.05UniSTS
WI-6056  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7q11.23UniSTS
GeneMap99-GB4 RH Map7422.74UniSTS
Whitehead-RH Map7398.4UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1204 2336 2780 2234 4784 1700 2212 3 608 1925 448 2160 7118 6401 10 3645 818 1668 1497 169

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC083884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC211433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF184614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF330625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF330626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH005796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223217 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW204865 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW207763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC065731 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GU215077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M60941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M60942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U25793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000289473   ⟹   ENSP00000289473
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl774,774,011 - 74,789,315 (+)Ensembl
Ensembl Acc Id: ENST00000398421
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl774,774,011 - 74,789,314 (+)Ensembl
Ensembl Acc Id: ENST00000433458   ⟹   ENSP00000392870
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl774,777,269 - 74,782,980 (+)Ensembl
Ensembl Acc Id: ENST00000438106
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl774,777,267 - 74,781,622 (+)Ensembl
Ensembl Acc Id: ENST00000442021   ⟹   ENSP00000401935
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl774,777,269 - 74,780,802 (+)Ensembl
Ensembl Acc Id: ENST00000443956
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl774,776,809 - 74,785,292 (+)Ensembl
Ensembl Acc Id: ENST00000449343
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl774,774,011 - 74,783,540 (+)Ensembl
Ensembl Acc Id: ENST00000455062
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl774,777,269 - 74,789,315 (+)Ensembl
Ensembl Acc Id: ENST00000464878   ⟹   ENSP00000484502
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl774,777,269 - 74,783,583 (+)Ensembl
Ensembl Acc Id: ENST00000486097
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl774,783,443 - 74,785,546 (+)Ensembl
Ensembl Acc Id: ENST00000488197
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl774,780,396 - 74,783,405 (+)Ensembl
RefSeq Acc Id: NM_000265   ⟹   NP_000256
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38774,774,011 - 74,789,315 (+)NCBI
GRCh37774,188,309 - 74,203,720 (+)NCBI
Build 36773,826,245 - 73,841,595 (+)NCBI Archive
CHM1_1774,333,378 - 74,348,792 (+)NCBI
T2T-CHM13v2.0775,976,304 - 75,991,631 (+)NCBI
CRA_TCAGchr7v2773,521,373 - 73,536,784 (+)NCBI
Sequence:
RefSeq Acc Id: NP_000256   ⟸   NM_000265
- UniProtKB: A6NI72 (UniProtKB/Swiss-Prot),   Q9UDV9 (UniProtKB/Swiss-Prot),   Q9BXI8 (UniProtKB/Swiss-Prot),   Q9BXI7 (UniProtKB/Swiss-Prot),   Q9BU90 (UniProtKB/Swiss-Prot),   Q53FR5 (UniProtKB/Swiss-Prot),   Q2PP07 (UniProtKB/Swiss-Prot),   O43842 (UniProtKB/Swiss-Prot),   A8K7S9 (UniProtKB/Swiss-Prot),   A6NEH2 (UniProtKB/Swiss-Prot),   Q9UMU2 (UniProtKB/Swiss-Prot),   P14598 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000484502   ⟸   ENST00000464878
Ensembl Acc Id: ENSP00000401935   ⟸   ENST00000442021
Ensembl Acc Id: ENSP00000289473   ⟸   ENST00000289473
Ensembl Acc Id: ENSP00000392870   ⟸   ENST00000433458
Protein Domains
PX   SH3

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P14598-F1-model_v2 AlphaFold P14598 1-390 view protein structure

Promoters
RGD ID:7210815
Promoter ID:EPDNEW_H11154
Type:initiation region
Name:NCF1_1
Description:neutrophil cytosolic factor 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
GRCh38774,774,011 - 74,774,071EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7660 AgrOrtholog
COSMIC NCF1 COSMIC
Ensembl Genes ENSG00000158517 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000289473 ENTREZGENE
  ENST00000289473.11 UniProtKB/Swiss-Prot
  ENST00000433458.5 UniProtKB/TrEMBL
  ENST00000442021.6 UniProtKB/TrEMBL
  ENST00000464878.5 UniProtKB/TrEMBL
Gene3D-CATH 3.30.1520.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 Domains UniProtKB/Swiss-Prot
GTEx ENSG00000158517 GTEx
HGNC ID HGNC:7660 ENTREZGENE
Human Proteome Map NCF1 Human Proteome Map
InterPro NADPH_Oxidase/PX-Domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NADPH_oxidase_p47Phox_C UniProtKB/Swiss-Prot
  NCF1_SH3_1 UniProtKB/Swiss-Prot
  NCF1_SH3_2 UniProtKB/Swiss-Prot
  NECFESHC UniProtKB/Swiss-Prot
  P47PHOX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Phox UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PX_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PX_p47phox UniProtKB/Swiss-Prot
  SH3-like_dom_sf UniProtKB/Swiss-Prot
  SH3_domain UniProtKB/Swiss-Prot
KEGG Report hsa:653361 UniProtKB/Swiss-Prot
NCBI Gene 653361 ENTREZGENE
OMIM 608512 OMIM
PANTHER PTHR15706:SF6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 MULTIPLE DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam NECFESHC UniProtKB/Swiss-Prot
  p47_phox_C UniProtKB/Swiss-Prot
  PF00787 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3_1 UniProtKB/Swiss-Prot
PharmGKB PA31463 PharmGKB
PRINTS P47PHOX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE PS50195 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 UniProtKB/Swiss-Prot
SMART SH3 UniProtKB/Swiss-Prot
  SM00312 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50044 UniProtKB/Swiss-Prot
  SSF64268 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087X1W0_HUMAN UniProtKB/TrEMBL
  A6NEH2 ENTREZGENE
  A6NI72 ENTREZGENE
  A8K7S9 ENTREZGENE
  C9J155_HUMAN UniProtKB/TrEMBL
  H7C1S1_HUMAN UniProtKB/TrEMBL
  NCF1_HUMAN UniProtKB/Swiss-Prot
  O43842 ENTREZGENE
  P14598 ENTREZGENE
  Q2PP07 ENTREZGENE
  Q53FR5 ENTREZGENE
  Q9BU90 ENTREZGENE
  Q9BXI7 ENTREZGENE
  Q9BXI8 ENTREZGENE
  Q9UDV9 ENTREZGENE
  Q9UMU2 ENTREZGENE
UniProt Secondary A6NEH2 UniProtKB/Swiss-Prot
  A8K7S9 UniProtKB/Swiss-Prot
  O43842 UniProtKB/Swiss-Prot
  Q2PP07 UniProtKB/Swiss-Prot
  Q53FR5 UniProtKB/Swiss-Prot
  Q9BU90 UniProtKB/Swiss-Prot
  Q9BXI7 UniProtKB/Swiss-Prot
  Q9BXI8 UniProtKB/Swiss-Prot
  Q9UDV9 UniProtKB/Swiss-Prot
  Q9UMU2 UniProtKB/Swiss-Prot