PON1 (paraoxonase 1) - Rat Genome Database

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Gene: PON1 (paraoxonase 1) Homo sapiens
Symbol: PON1
Name: paraoxonase 1
RGD ID: 1349272
HGNC Page HGNC:9204
Description: Enables several functions, including aryldialkylphosphatase activity; arylesterase activity; and protein homodimerization activity. Involved in several processes, including organophosphate catabolic process; phosphatidylcholine metabolic process; and positive regulation of cholesterol efflux. Located in extracellular space. Part of spherical high-density lipoprotein particle. Implicated in several diseases, including artery disease (multiple); cerebrovascular disease (multiple); eye disease (multiple); glucose metabolism disease (multiple); and hematologic cancer (multiple). Biomarker of several diseases, including allergic rhinitis; anemia (multiple); artery disease (multiple); autoimmune disease (multiple); and eye disease (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: A-esterase 1; aromatic esterase 1; arylesterase 1; arylesterase B-type; ESA; esterase A; K-45; MVCD5; paraoxonase B-type; PON; PON 1; serum aryldiakylphosphatase; serum aryldialkylphosphatase 1; serum paraoxonase/arylesterase 1
RGD Orthologs
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Candidate Gene For: BW321_H BMD1_H
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38795,297,676 - 95,324,532 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl795,297,676 - 95,324,532 (-)EnsemblGRCh38hg38GRCh38
GRCh37794,926,988 - 94,953,844 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36794,764,924 - 94,791,780 (-)NCBINCBI36Build 36hg18NCBI36
Build 34794,571,638 - 94,598,495NCBI
Celera789,626,366 - 89,652,590 (-)NCBICelera
Cytogenetic Map7q21.3NCBI
HuRef789,534,701 - 89,560,922 (-)NCBIHuRef
CHM1_1794,857,684 - 94,883,916 (-)NCBICHM1_1
T2T-CHM13v2.0796,533,832 - 96,560,687 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2794,256,665 - 94,282,884 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations     Click to see Annotation Detail View
abdominal aortic aneurysm  (IAGP)
Acute Coronary Syndrome  (EXP)
acute lymphoblastic leukemia  (IAGP)
Agricultural Workers' Diseases  (EXP)
Albuminuria  (IAGP)
allergic rhinitis  (IEP)
Alzheimer's disease  (IAGP)
amyotrophic lateral sclerosis  (EXP,IAGP)
amyotrophic lateral sclerosis type 1  (EXP)
anemia  (IDA,IEP)
arteriosclerosis  (IMP)
Arteritis  (EXP)
atherosclerosis  (EXP,IDA,IEP,ISO)
autistic disorder  (EXP)
Behcet's disease  (IEP)
beta thalassemia  (IEP)
beta-thalassemia major  (IEP)
Birth Weight  (EXP)
bone disease  (IEP)
Brain Neoplasms  (EXP)
breast cancer  (IAGP)
capillary leak syndrome  (IAGP)
cardiovascular system disease  (EXP)
cataract  (IEP)
celiac disease  (IEP)
cerebral cavernous malformation  (IAGP)
cerebral infarction  (IAGP)
Chemical and Drug Induced Liver Injury  (EXP)
cholestasis  (EXP)
chronic lymphocytic leukemia  (IAGP)
chronic obstructive pulmonary disease  (IEP)
Colorectal Neoplasms  (EXP)
congestive heart failure  (EXP)
Constipation  (EXP)
coronary artery disease  (EXP,IAGP,IEP)
coronary artery vasospasm  (EXP)
Coronary Disease  (EXP,IAGP,IEP)
Crohn's disease  (IEP)
dementia  (IAGP)
depressive disorder  (EXP)
Diabetes Complications  (EXP)
diabetes mellitus  (EXP)
diabetic angiopathy  (EXP,IAGP)
Diabetic Nephropathies  (EXP,IAGP,IDA)
diabetic retinopathy  (EXP,IAGP,IEP)
disease of metabolism  (EXP)
exfoliation syndrome  (IEP)
Experimental Diabetes Mellitus  (IMP,ISO)
genetic disease  (IAGP)
Genetic Predisposition to Disease  (EXP)
glucose intolerance  (IAGP)
heart disease  (EXP)
Hematologic Neoplasms  (EXP,IAGP)
hemorrhoid  (EXP)
Henoch-Schoenlein purpura  (IAGP)
hepatocellular carcinoma  (IEP)
Hypercholesterolemia  (EXP)
hyperglycemia  (IDA)
hyperhomocysteinemia  (EXP)
Hyperlipoproteinemia Type II  (EXP)
Hyperlipoproteinemias  (EXP,IDA)
hypertension  (IAGP)
hyperthyroidism  (EXP)
Hypertriglyceridemia  (ISO)
Insulin Resistance  (IAGP)
iron deficiency anemia  (IDA,IEP)
keratoconus  (IEP)
Kuhnt-Junius degeneration  (IAGP,IEP)
Lung Neoplasms  (EXP)
lymphoma  (EXP)
macular degeneration  (IAGP,IEP)
male infertility  (EXP)
membranoproliferative glomerulonephritis  (EXP)
Metabolic Syndrome  (EXP,IEP)
Micronuclei, Chromosome-Defective  (EXP)
multiple myeloma  (IAGP,IDA,IEP)
myocardial infarction  (IAGP)
Nasal Polyps  (IEP)
non-Hodgkin lymphoma  (IAGP)
Occupational Diseases  (EXP)
open-angle glaucoma  (IAGP)
Organophosphate Poisoning  (EXP)
periodontal disease  (EXP)
persian gulf syndrome  (EXP)
pleomorphic xanthoastrocytoma  (IAGP)
Prenatal Exposure Delayed Effects  (EXP)
primary open angle glaucoma  (IAGP)
Primitive Neuroectodermal Tumors  (EXP)
prostate cancer  (IEP)
Prostatic Neoplasms  (EXP)
proteinuria  (IEP)
retinal vein occlusion  (IAGP,IEP)
rheumatoid arthritis  (EXP)
secondary Parkinson disease  (EXP)
sickle cell anemia  (IEP)
Sjogren's syndrome  (IEP)
spina bifida  (EXP)
Spinal Cord Injuries  (ISO)
steatotic liver disease  (EXP)
toxic encephalopathy  (EXP)
type 1 diabetes mellitus  (IEP)
type 2 diabetes mellitus  (IAGP,IEP)
ulcerative colitis  (IEP)
urinary bladder cancer  (EXP)
vitamin B12 deficiency  (IEP)
Yin Deficiency  (ISO)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(S)-naringenin  (EXP)
(S)-nicotine  (EXP)
1,2-dilauroyl-sn-glycero-3-phosphocholine(1+)  (EXP)
1-naphthyl isothiocyanate  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4,6-tribromophenol  (EXP)
2,4-dinitrotoluene  (ISO)
2,6-di-tert-butyl-4-methylphenol  (EXP)
2-trans,6-trans,10-trans-geranylgeranyl diphosphate  (EXP)
2-trans,6-trans-farnesyl diphosphate  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,4-dihydrocoumarin  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
3-methylcholanthrene  (EXP,ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-sulfonyldiphenol  (EXP)
4-hydroxy-TEMPO  (ISO)
4-hydroxynon-2-enal  (EXP)
4-hydroxyphenyl retinamide  (ISO)
4-nitrophenol  (EXP)
4-nitrophenyl acetate  (EXP)
6-propyl-2-thiouracil  (ISO)
7,9-dihydro-1H-purine-2,6,8(3H)-trione  (EXP)
7-ketocholesterol  (EXP)
acetamide  (ISO)
acetylsalicylic acid  (EXP,ISO)
acrolein  (EXP)
aflatoxin B1  (EXP)
albuterol  (EXP)
aldicarb  (EXP,ISO)
alendronic acid  (ISO)
ammonium chloride  (ISO)
ampicillin  (EXP,ISO)
angelica lactone  (EXP)
anthra[1,9-cd]pyrazol-6(2H)-one  (EXP)
arachidonic acid  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
atazanavir sulfate  (ISO)
atorvastatin calcium  (EXP,ISO)
benzo[a]pyrene  (EXP)
Benzo[k]fluoranthene  (ISO)
bexarotene  (ISO)
bifenthrin  (ISO)
bisphenol A  (ISO)
bosentan  (EXP)
cadmium atom  (EXP,ISO)
calcium atom  (EXP,ISO)
calcium dichloride  (EXP)
calcium(0)  (EXP,ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
chenodeoxycholic acid  (EXP)
chlorpyrifos  (EXP,ISO)
cholesterol  (EXP,ISO)
cholic acid  (ISO)
chromium(3+) trichloride  (ISO)
ciprofibrate  (ISO)
ciprofloxacin  (EXP,ISO)
cisplatin  (ISO)
clindamycin phosphate  (EXP,ISO)
clodronic acid  (ISO)
clofibrate  (ISO)
clofibric acid  (ISO)
clopidogrel  (EXP)
cobalt atom  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
coumarins  (EXP)
cyclophosphamide  (ISO)
cyclosporin A  (EXP)
desogestrel  (ISO)
dexamethasone  (EXP)
Diallyl sulfide  (ISO)
diazinon  (EXP,ISO)
diazoxon  (EXP,ISO)
dichlorvos  (ISO)
diclofenac  (EXP)
dieldrin  (ISO)
diiodine  (ISO)
diisopropyl fluorophosphate  (EXP)
dimethylarsinic acid  (ISO)
dioleoyl phosphatidylcholine  (EXP)
dioxygen  (EXP)
dipalmitoyl phosphatidylglycerol  (EXP)
disodium selenite  (EXP)
doramapimod  (ISO)
dorsomorphin  (EXP)
edaravone  (ISO)
elemental selenium  (EXP)
endosulfan  (EXP)
entinostat  (EXP)
erucic acid  (EXP)
ethylene glycol bis(2-aminoethyl)tetraacetic acid  (EXP,ISO)
farnesyl diphosphate  (EXP)
fenitrothion  (ISO)
fenofibrate  (EXP)
flavone  (EXP)
fluticasone  (EXP)
fluvastatin  (ISO)
fumonisin B1  (ISO)
furan  (ISO)
gabapentin  (EXP)
gamma-decalactone  (ISO)
glutathione  (EXP)
graphene oxide  (ISO)
GW 4064  (EXP)
high-density lipoprotein cholesterol  (EXP)
homocysteine  (ISO)
hydrazine  (ISO)
hydrogen peroxide  (EXP)
hypochlorous acid  (EXP)
iron atom  (EXP,ISO)
iron(0)  (EXP,ISO)
iron(2+) sulfate (anhydrous)  (EXP)
isorhamnetin  (EXP)
L-ascorbic acid  (EXP,ISO)
L-methionine  (ISO)
lead diacetate  (ISO)
lead(0)  (EXP)
levetiracetam  (EXP)
levonorgestrel  (ISO)
linoleic acid  (EXP)
lysophosphatidylglycerol  (EXP)
malaoxon  (ISO)
malonaldehyde  (EXP)
mefenamic acid  (EXP)
mercury atom  (EXP)
mercury(0)  (EXP)
metformin  (ISO)
methapyrilene  (ISO)
methidathion  (ISO)
methimazole  (EXP)
methotrexate  (ISO)
methylglyoxal  (EXP)
mevalonic acid  (EXP)
mithramycin  (EXP)
montelukast  (EXP)
moxifloxacin  (EXP)
N-acetyl-L-cysteine  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosomorpholine  (ISO)
Nandrolone decanoate  (EXP)
naphthalene  (ISO)
nickel atom  (EXP,ISO)
nicotine  (EXP)
nitrofen  (ISO)
O-methyleugenol  (EXP)
ochratoxin A  (ISO)
oleic acid  (EXP)
organophosphorus compound  (EXP,ISO)
orlistat  (EXP)
oxamyl  (EXP,ISO)
ozone  (ISO)
palladium  (EXP)
palmitoleic acid  (EXP)
pamidronate  (ISO)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
paraoxon  (EXP,ISO)
Paraoxon-methyl  (EXP,ISO)
parathion  (EXP,ISO)
parathion-methyl  (EXP)
pentane-2,3-dione  (ISO)
perfluorononanoic acid  (EXP)
perfluorooctanoic acid  (ISO)
permethrin  (ISO)
phenobarbital  (EXP,ISO)
phenyl acetate  (EXP,ISO)
phenylacetic acid  (EXP,ISO)
phenylmercury acetate  (EXP)
phenytoin  (EXP,ISO)
pirinixic acid  (EXP,ISO)
pitavastatin  (EXP)
pitavastatin(1-)  (EXP)
platinum  (EXP)
platinum(0)  (EXP)
potassium dichromate  (ISO)
pralidoxime  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
primidone  (EXP)
proanthocyanidin  (ISO)
propanal  (EXP)
pyrrolidine  (EXP)
quercetin  (EXP,ISO)
quinolin-2(1H)-one  (EXP)
quinolin-2-ol  (EXP)
reactive oxygen species  (EXP)
resveratrol  (EXP,ISO)
rifampicin  (EXP)
Risedronate sodium  (ISO)
ritonavir  (ISO)
rutin  (ISO)
salicylates  (EXP)
saquinavir  (ISO)
sarin  (EXP)
SB 431542  (EXP)
selenic acid  (ISO)
selenium atom  (EXP)
silicon dioxide  (EXP)
simvastatin  (EXP)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
sodium fluoride  (ISO)
sodium perchlorate  (ISO)
sodium selenate  (ISO)
Soman  (EXP,ISO)
squalene  (EXP)
streptozocin  (ISO)
sulfisomidine  (EXP)
sulfisoxazole  (EXP)
tamoxifen  (ISO)
taurocholic acid  (ISO)
tetrachloromethane  (EXP,ISO)
theophylline  (EXP)
thioacetamide  (ISO)
tiotropium bromide  (EXP)
titanium dioxide  (ISO)
trichostatin A  (EXP)
tyloxapol  (ISO)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
varenicline  (EXP)
vitamin E  (ISO)
vorinostat  (EXP)
VX nerve agent  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)
zingerone  (ISO)
zoledronic acid  (ISO)

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

Human Phenotype
Abdominal aortic aneurysm  (IAGP)
Abnormal best corrected visual acuity test  (IAGP)
Abnormal fundus fluorescein angiography  (IAGP)
Abnormal granulocyte morphology  (IAGP)
Abnormal optic disc morphology  (IAGP)
Abnormal optical coherence tomography  (IAGP)
Abnormal posterior segment imaging  (IAGP)
Abnormal respiratory system physiology  (IAGP)
Agitation  (IAGP)
Amyotrophic lateral sclerosis  (IAGP)
Anxiety  (IAGP)
Atypical behavior  (IAGP)
Babinski sign  (IAGP)
Cachexia  (IAGP)
Childhood onset  (IAGP)
Cognitive impairment  (IAGP)
Decreased HDL cholesterol concentration  (IAGP)
Decreased waist to hip ratio  (IAGP)
Depression  (IAGP)
Drusen  (IAGP)
Dysarthria  (IAGP)
Dysphagia  (IAGP)
Dyspnea  (IAGP)
Elevated circulating apolipoprotein B concentration  (IAGP)
Emotional lability  (IAGP)
Fasciculations  (IAGP)
Fatigable weakness of bulbar muscles  (IAGP)
Fatigable weakness of respiratory muscles  (IAGP)
Fatigable weakness of swallowing muscles  (IAGP)
Fatigue  (IAGP)
Foot dorsiflexor weakness  (IAGP)
Frontotemporal dementia  (IAGP)
Generalized muscle weakness  (IAGP)
Hypercholesterolemia  (IAGP)
Hyperglycemia  (IAGP)
Hyperreflexia  (IAGP)
Hypertriglyceridemia  (IAGP)
Hypoinsulinemia  (IAGP)
Increased cup-to-disc ratio  (IAGP)
Increased HDL cholesterol concentration  (IAGP)
Increased LDL cholesterol concentration  (IAGP)
Increased non-HDL cholesterol concentration  (IAGP)
Jaw hyperreflexia  (IAGP)
Language impairment  (IAGP)
Laryngospasm  (IAGP)
Lower limb muscle weakness  (IAGP)
Motor neuron atrophy  (IAGP)
Muscle spasm  (IAGP)
Nausea and vomiting  (IAGP)
Neurodegeneration  (IAGP)
Ocular hypertension  (IAGP)
Pain  (IAGP)
Paralysis  (IAGP)
Pleomorphic xanthoastrocytoma  (IAGP)
Progressive distal muscular atrophy  (IAGP)
Progressive spinal muscular atrophy  (IAGP)
Proteinuria  (IAGP)
Respiratory failure  (IAGP)
Retinopathy  (IAGP)
Skeletal muscle atrophy  (IAGP)
Skin rash  (IAGP)
Sleep abnormality  (IAGP)
Spasticity  (IAGP)
Tongue atrophy  (IAGP)
Upper limb muscle weakness  (IAGP)
Visual field defect  (IAGP)
Xerostomia  (IAGP)

References - curated
# Reference Title Reference Citation
1. Effects of rosiglitazone and aspirin on experimental model of induced type 2 diabetes in rats: focus on insulin resistance and inflammatory markers. Abdin AA, etal., J Diabetes Complications. 2009 Mar 26.
2. Serum PON1 arylesterase activity in relation to hyperhomocysteinaemia and oxidative stress in young adult central retinal venous occlusion patients. Angayarkanni N, etal., Eye (Lond). 2008 Jul;22(7):969-74. Epub 2007 Dec 14.
3. Assessment of paraoxonase and arylesterase activities in patients with iron deficiency anemia. Aslan M, etal., Atherosclerosis. 2007 Apr;191(2):397-402. Epub 2006 May 8.
4. Decreased serum paraoxonase 1 activity and increased serum homocysteine and malondialdehyde levels in age-related macular degeneration. Ates O, etal., Tohoku J Exp Med. 2009 Jan;217(1):17-22.
5. Risk of myocardial infarction associated with Gln/Arg 192 polymorphism in the human paraoxonase gene and diabetes mellitus. The REGICOR Investigators. Aubo C, etal., Eur Heart J. 2000 Jan;21(1):33-8.
6. Association of lipids, lipoproteins, apolipoproteins and paraoxonase enzyme activity with premature coronary artery disease. Azizi F, etal., Coron Artery Dis. 2002 Feb;13(1):9-16.
7. Association of the M55L and Q192R paraoxonase gene polymorphisms with age-related macular degeneration. Baird PN, etal., Am J Ophthalmol. 2004 Oct;138(4):665-6.
8. LL-paraoxonase genotype is associated with a more severe degree of homeostasis model assessment IR in healthy subjects. Barbieri M, etal., J Clin Endocrinol Metab. 2002 Jan;87(1):222-5.
9. Facilitated replacement of Kupffer cells expressing a paraoxonase-1 transgene is essential for ameliorating atherosclerosis in mice. Bradshaw G, etal., Proc Natl Acad Sci U S A. 2005 Aug 2;102(31):11029-34. Epub 2005 Jul 25.
10. [Comparative plasma proteomic analysis of patients with multiple myeloma treated with bortezomib-based regimens]. Cumova J, etal., Klin Onkol. 2012;25(1):17-25.
11. NQO1 rs1800566 (C609T), PON1 rs662 (Q192R), and PON1 rs854560 (L55M) polymorphisms segregate the risk of childhood acute leukemias according to age range distribution. de Aguiar Goncalves BA, etal., Cancer Causes Control. 2012 Nov;23(11):1811-9. doi: 10.1007/s10552-012-0060-5. Epub 2012 Sep 14.
12. Paraoxonase-1 L55M polymorphism is associated with an abnormal oral glucose tolerance test and differentiates high risk coronary disease families. Deakin S, etal., J Clin Endocrinol Metab. 2002 Mar;87(3):1268-73.
13. Association of combined genetic variations in SOD3, GPX3, PON1, and GSTT1 with hypertension and severity of coronary artery disease. Decharatchakul N, etal., Heart Vessels. 2020 Jul;35(7):918-929. doi: 10.1007/s00380-020-01564-6. Epub 2020 Feb 8.
14. Identification of proteins found to be significantly altered when comparing the serum proteome from Multiple Myeloma patients with varying degrees of bone disease. Dowling P, etal., BMC Genomics. 2014 Oct 17;15:904. doi: 10.1186/1471-2164-15-904.
15. Oxidant-antioxidant status in Egyptian children with sickle cell anemia: a single center based study. El-Ghamrawy MK, etal., J Pediatr (Rio J). 2014 May-Jun;90(3):286-92. doi: 10.1016/j.jped.2013.09.005. Epub 2014 Feb 5.
16. Decreased HDL-dependent paraoxonase and arylesterase enzyme activity may indicate a worse prognosis in multiple myeloma. Ellidag HY, etal., Asian Pac J Cancer Prev. 2014;15(22):9847-51.
17. Polymorphisms in the PON gene cluster are associated with Alzheimer disease. Erlich PM, etal., Hum Mol Genet. 2006 Jan 1;15(1):77-85. Epub 2005 Nov 30.
18. Enhanced HDL-cholesterol-associated anti-oxidant PON-1 activity in prostate cancer patients. Eroglu M, etal., Kaohsiung J Med Sci. 2013 Jul;29(7):368-73. doi: 10.1016/j.kjms.2012.11.004. Epub 2013 Jan 16.
19. Association study of detoxification genes in age related macular degeneration. Esfandiary H, etal., Br J Ophthalmol. 2005 Apr;89(4):470-4.
20. Paraoxonase 1 gene polymorphisms and enzyme activities in diabetes mellitus. Flekac M, etal., Physiol Res. 2008;57(5):717-26. Epub 2007 Oct 11.
21. Body mass, polymorphisms in obesity-related genes, and the risk of developing breast cancer among women with benign breast disease. Gallicchio L, etal., Cancer Detect Prev. 2007;31(2):95-101. Epub 2007 Apr 10.
22. Genetic analysis of 56 polymorphisms in 17 genes involved in methionine metabolism in patients with abdominal aortic aneurysm. Giusti B, etal., J Med Genet. 2008 Nov;45(11):721-30. doi: 10.1136/jmg.2008.057851. Epub 2008 Jul 17.
23. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
24. Relationship between paraoxonase-1 (PON1) activity and lipoprotein (a) levels in Turkish coronary artery disease patients living in the Antalya region. Gocmen YA, etal., Eur J Cardiovasc Prev Rehabil. 2005 Apr;12(2):185-6.
25. Serum paraoxonase, arylesterase activity, and oxidative status in patients with nasal polyp. Hao W, etal., Eur Arch Otorhinolaryngol. 2013 May;270(6):1861-5. doi: 10.1007/s00405-012-2307-x. Epub 2012 Dec 13.
26. Expression and activity of paraoxonase 1 in human cataractous lens tissue. Hashim Z, etal., Free Radic Biol Med. 2009 Apr 15;46(8):1089-95. doi: 10.1016/j.freeradbiomed.2009.01.012. Epub 2009 Jan 23.
27. A polymorphism of the paraoxonase gene associated with variation in plasma lipoproteins in a genetic isolate. Hegele RA, etal., Arterioscler Thromb Vasc Biol. 1995 Jan;15(1):89-95.
28. Paraoxonase 1 gene polymorphisms and dementia in humans. Helbecque N, etal., Neurosci Lett 2004 Mar 18;358(1):41-4.
29. Association between PON 1 polymorphisms, PON activity and diabetes complications. Hofer SE, etal., J Diabetes Complications. 2006 Sep-Oct;20(5):322-8.
30. Serum paraoxonase activity and its relationship to diabetic complications in patients with non-insulin-dependent diabetes mellitus. Ikeda Y, etal., Metabolism. 1998 May;47(5):598-602.
31. Evidence for association between paraoxonase gene polymorphisms and atherosclerotic diseases. Imai Y, etal., Atherosclerosis. 2000 Apr;149(2):435-42.
32. Paraoxonase 1 gene polymorphisms influence clinical features of open-angle glaucoma. Inagaki Y, etal., Graefes Arch Clin Exp Ophthalmol. 2006 Aug;244(8):984-90. Epub 2006 Jan 13.
33. Trace elements and oxidative stress in chronic obstructive pulmonary disease. Isik B, etal., Saudi Med J. 2005 Dec;26(12):1882-5.
34. Current understanding of the mechanisms involved in metabolic detoxification of warfare nerve agents. Jokanovic M Toxicol Lett. 2009 Jul 10;188(1):1-10. doi: 10.1016/j.toxlet.2009.03.017. Epub 2009 Mar 31.
35. Serum paraoxonase activity is decreased in the active stage of Behcet's disease. Karakucuk S, etal., Br J Ophthalmol. 2004 Oct;88(10):1256-8.
36. Association between xenobiotic gene polymorphisms and non-Hodgkin's lymphoma risk. Kerridge I, etal., Br J Haematol. 2002 Aug;118(2):477-81.
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PMID:21127310   PMID:21146823   PMID:21162838   PMID:21167145   PMID:21170047   PMID:21187701   PMID:21223956   PMID:21229382   PMID:21231776   PMID:21258965   PMID:21268919   PMID:21287574  
PMID:21291901   PMID:21302675   PMID:21308654   PMID:21355294   PMID:21360915   PMID:21407247   PMID:21438666   PMID:21446159   PMID:21450592   PMID:21465165   PMID:21505009   PMID:21521796  
PMID:21527445   PMID:21530644   PMID:21539819   PMID:21545792   PMID:21557696   PMID:21561808   PMID:21573798   PMID:21620813   PMID:21629682   PMID:21655055   PMID:21672555   PMID:21681430  
PMID:21692977   PMID:21718208   PMID:21722818   PMID:21723555   PMID:21737645   PMID:21737961   PMID:21748243   PMID:21755523   PMID:21757906   PMID:21765051   PMID:21783258   PMID:21803130  
PMID:21806387   PMID:21820612   PMID:21829028   PMID:21864557   PMID:21873635   PMID:21873946   PMID:21887553   PMID:21904599   PMID:21907728   PMID:21911985   PMID:21918510   PMID:21960140  
PMID:21960992   PMID:21982484   PMID:21986144   PMID:21997314   PMID:22029190   PMID:22030099   PMID:22067439   PMID:22074696   PMID:22086979   PMID:22098435   PMID:22115701   PMID:22123566  
PMID:22133529   PMID:22168506   PMID:22188760   PMID:22193970   PMID:22206979   PMID:22222492   PMID:22247228   PMID:22285382   PMID:22301914   PMID:22320866   PMID:22322559   PMID:22333293  
PMID:22367101   PMID:22378349   PMID:22401958   PMID:22428615   PMID:22516433   PMID:22520065   PMID:22521594   PMID:22555481   PMID:22615820   PMID:22616668   PMID:22631428   PMID:22659076  
PMID:22703625   PMID:22704918   PMID:22723959   PMID:22750393   PMID:22750797   PMID:22751611   PMID:22776645   PMID:22796398   PMID:22813564   PMID:22822045   PMID:22835076   PMID:22846213  
PMID:22847926   PMID:22854640   PMID:22868806   PMID:22884547   PMID:22890407   PMID:22896672   PMID:22934769   PMID:22952763   PMID:22959975   PMID:22971504   PMID:22974728   PMID:22975224  
PMID:22982463   PMID:23007074   PMID:23053877   PMID:23054002   PMID:23056015   PMID:23068968   PMID:23103709   PMID:23137417   PMID:23159884   PMID:23160181   PMID:23167629   PMID:23171143  
PMID:23182497   PMID:23204156   PMID:23207490   PMID:23278234   PMID:23281178   PMID:23305304   PMID:23316782   PMID:23346768   PMID:23356507   PMID:23370296   PMID:23376485   PMID:23391848  
PMID:23418418   PMID:23426541   PMID:23435062   PMID:23438848   PMID:23442176   PMID:23471031   PMID:23487294   PMID:23497787   PMID:23508039   PMID:23533145   PMID:23547806   PMID:23551806  
PMID:23557751   PMID:23582715   PMID:23590198   PMID:23602893   PMID:23606795   PMID:23608957   PMID:23625196   PMID:23625910   PMID:23628180   PMID:23637274   PMID:23651475   PMID:23658746  
PMID:23669169   PMID:23672526   PMID:23680251   PMID:23688862   PMID:23706841   PMID:23709379   PMID:23710701   PMID:23742759   PMID:23789921   PMID:23791833   PMID:23821382   PMID:23834345  
PMID:23850044   PMID:23865359   PMID:23884836   PMID:23893804   PMID:23908111   PMID:23917967   PMID:23936524   PMID:23993903   PMID:24024900   PMID:24028323   PMID:24028901   PMID:24057271  
PMID:24057998   PMID:24080149   PMID:24123308   PMID:24130171   PMID:24147648   PMID:24167353   PMID:24170778   PMID:24186356   PMID:24200861   PMID:24206655   PMID:24211756   PMID:24228251  
PMID:24229619   PMID:24267244   PMID:24280342   PMID:24301778   PMID:24314997   PMID:24364225   PMID:24384301   PMID:24399815   PMID:24423117   PMID:24440837   PMID:24448003   PMID:24456870  
PMID:24473115   PMID:24477584   PMID:24500802   PMID:24501102   PMID:24504666   PMID:24524596   PMID:24620935   PMID:24665146   PMID:24679385   PMID:24682159   PMID:24700021   PMID:24704632  
PMID:24706428   PMID:24711634   PMID:24719500   PMID:24721823   PMID:24731121   PMID:24763406   PMID:24769273   PMID:24793345   PMID:24813034   PMID:24826966   PMID:24830418   PMID:24831724  
PMID:24833785   PMID:24841661   PMID:24918121   PMID:24920129   PMID:24936519   PMID:24965284   PMID:24972570   PMID:24988089   PMID:25027835   PMID:25036896   PMID:25037113   PMID:25038992  
PMID:25038995   PMID:25070982   PMID:25093614   PMID:25124603   PMID:25155309   PMID:25179377   PMID:25180809   PMID:25218815   PMID:25241610   PMID:25261854   PMID:25264968   PMID:25297118  
PMID:25301263   PMID:25304213   PMID:25367762   PMID:25386619   PMID:25406539   PMID:25420483   PMID:25427726   PMID:25445355   PMID:25459919   PMID:25463530   PMID:25464671   PMID:25490030  
PMID:25500007   PMID:25510689   PMID:25530140   PMID:25575948   PMID:25600530   PMID:25600537   PMID:25668223   PMID:25684529   PMID:25723374   PMID:25734763   PMID:25741997   PMID:25746376  
PMID:25801214   PMID:25814092   PMID:25835425   PMID:25880731   PMID:25935173   PMID:25953737   PMID:25956367   PMID:25962362   PMID:25964115   PMID:25965560   PMID:25966589   PMID:25968808  
PMID:25991559   PMID:26009633   PMID:26016451   PMID:26025407   PMID:26028114   PMID:26039660   PMID:26091975   PMID:26103614   PMID:26149812   PMID:26154629   PMID:26178739   PMID:26193203  
PMID:26218756   PMID:26227792   PMID:26241956   PMID:26251874   PMID:26358807   PMID:26467378   PMID:26549836   PMID:26562028   PMID:26567339   PMID:26573179   PMID:26620773   PMID:26632904  
PMID:26654051   PMID:26656640   PMID:26723569   PMID:26763308   PMID:26769660   PMID:26773174   PMID:26773776   PMID:26780374   PMID:26795139   PMID:26815637   PMID:26829396   PMID:26870959  
PMID:26884296   PMID:26886353   PMID:26888625   PMID:26919159   PMID:26978533   PMID:26993251   PMID:26994915   PMID:27000849   PMID:27004558   PMID:27085770   PMID:27129797   PMID:27166546  
PMID:27167582   PMID:27168012   PMID:27230552   PMID:27238966   PMID:27240017   PMID:27262841   PMID:27309259   PMID:27313824   PMID:27325571   PMID:27337219   PMID:27338244   PMID:27387094  
PMID:27450784   PMID:27461010   PMID:27510818   PMID:27520507   PMID:27546893   PMID:27578362   PMID:27640339   PMID:27668323   PMID:27712128   PMID:27771368   PMID:27805900   PMID:27812605  
PMID:27838376   PMID:27858903   PMID:27863359   PMID:27863895   PMID:28026940   PMID:28027289   PMID:28038449   PMID:28076455   PMID:28145863   PMID:28167245   PMID:28185016   PMID:28196109  
PMID:28278274   PMID:28347194   PMID:28376720   PMID:28396702   PMID:28399619   PMID:28433610   PMID:28441923   PMID:28445984   PMID:28467805   PMID:28477577   PMID:28514442   PMID:28602123  
PMID:28653653   PMID:28657841   PMID:28665493   PMID:28667918   PMID:28689109   PMID:28779954   PMID:28835968   PMID:28862184   PMID:28866115   PMID:29049176   PMID:29049204   PMID:29050675  
PMID:29118461   PMID:29156090   PMID:29168398   PMID:29176871   PMID:29215249   PMID:29215590   PMID:29226640   PMID:29229890   PMID:29233102   PMID:29254890   PMID:29273831   PMID:29308836  
PMID:29314660   PMID:29322801   PMID:29393817   PMID:29409844   PMID:29462797   PMID:29511261   PMID:29546656   PMID:29604466   PMID:29626583   PMID:29682786   PMID:29773198   PMID:29782842  
PMID:29843993   PMID:29848980   PMID:29858231   PMID:29879566   PMID:29945323   PMID:29952962   PMID:29953969   PMID:29970690   PMID:29981194   PMID:30128909   PMID:30129401   PMID:30130521  
PMID:30165052   PMID:30173430   PMID:30178714   PMID:30240501   PMID:30241945   PMID:30244352   PMID:30261890   PMID:30314292   PMID:30359673   PMID:30381540   PMID:30410197   PMID:30448568  
PMID:30455362   PMID:30465883   PMID:30477582   PMID:30500525   PMID:30506510   PMID:30509298   PMID:30529100   PMID:30545386   PMID:30588556   PMID:30618305   PMID:30654664   PMID:30678610  
PMID:30681756   PMID:30853125   PMID:30857497   PMID:30868319   PMID:30875327   PMID:30891852   PMID:30900463   PMID:30903418   PMID:30946296   PMID:30947571   PMID:30975138   PMID:30977447  
PMID:30979955   PMID:30987726   PMID:31005548   PMID:31012132   PMID:31080207   PMID:31102685   PMID:31128980   PMID:31177124   PMID:31180492   PMID:31263978   PMID:31292763   PMID:31294627  
PMID:31336443   PMID:31351988   PMID:31353473   PMID:31374360   PMID:31379240   PMID:31400051   PMID:31430977   PMID:31467900   PMID:31476444   PMID:31531730   PMID:31626760   PMID:31626928  
PMID:31653192   PMID:31737129   PMID:31757567   PMID:31762361   PMID:31768953   PMID:31873734   PMID:31900240   PMID:31967744   PMID:31969002   PMID:31983193   PMID:32002976   PMID:32076459  
PMID:32090118   PMID:32114288   PMID:32114577   PMID:32148648   PMID:32326787   PMID:32429655   PMID:32472296   PMID:32519276   PMID:32549522   PMID:32556934   PMID:32567023   PMID:32570269  
PMID:32583675   PMID:32599353   PMID:32638685   PMID:32674726   PMID:32702814   PMID:32721231   PMID:32729307   PMID:32827712   PMID:32855040   PMID:32862511   PMID:32902236   PMID:32905659  
PMID:32930135   PMID:32940564   PMID:33033318   PMID:33144547   PMID:33164855   PMID:33188964   PMID:33218342   PMID:33284416   PMID:33325062   PMID:33425072   PMID:33484495   PMID:33485193  
PMID:33567022   PMID:33571670   PMID:33579580   PMID:33587860   PMID:33599870   PMID:33628379   PMID:33629320   PMID:33762698   PMID:33831384   PMID:33886674   PMID:33961781   PMID:34131170  
PMID:34316702   PMID:34351918   PMID:34356595   PMID:34445971   PMID:34452542   PMID:34467517   PMID:34593900   PMID:34626508   PMID:34628386   PMID:34634315   PMID:34637171   PMID:34698804  
PMID:34741558   PMID:34762786   PMID:34764653   PMID:34766662   PMID:35094534   PMID:35242296   PMID:35306973   PMID:35443473   PMID:35488563   PMID:35522182   PMID:35646794   PMID:35680920  
PMID:35883435   PMID:35945219   PMID:35999709   PMID:36014826   PMID:36074479   PMID:36093959   PMID:36138190   PMID:36307841   PMID:36314852   PMID:36326319   PMID:36360205   PMID:36463116  
PMID:36549222   PMID:36793191   PMID:36980959   PMID:36994541   PMID:37042875   PMID:37137941   PMID:37148265   PMID:37175471   PMID:37298334   PMID:37330180   PMID:37344284   PMID:37885002  
PMID:37948561   PMID:38138163   PMID:38474211  


Comparative Map Data
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38795,297,676 - 95,324,532 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl795,297,676 - 95,324,532 (-)EnsemblGRCh38hg38GRCh38
GRCh37794,926,988 - 94,953,844 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36794,764,924 - 94,791,780 (-)NCBINCBI36Build 36hg18NCBI36
Build 34794,571,638 - 94,598,495NCBI
Celera789,626,366 - 89,652,590 (-)NCBICelera
Cytogenetic Map7q21.3NCBI
HuRef789,534,701 - 89,560,922 (-)NCBIHuRef
CHM1_1794,857,684 - 94,883,916 (-)NCBICHM1_1
T2T-CHM13v2.0796,533,832 - 96,560,687 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2794,256,665 - 94,282,884 (-)NCBI
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
GRCm3965,168,101 - 5,193,824 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl65,168,090 - 5,193,946 (-)EnsemblGRCm39 Ensembl
GRCm3865,168,090 - 5,193,987 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl65,168,090 - 5,193,946 (-)EnsemblGRCm38mm10GRCm38
MGSCv3765,118,090 - 5,143,946 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3665,118,105 - 5,143,824 (-)NCBIMGSCv36mm8
Celera65,314,337 - 5,340,485 (-)NCBICelera
Cytogenetic Map6A1NCBI
cM Map61.99NCBI
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
GRCr8434,261,312 - 34,292,327 (-)NCBIGRCr8
mRatBN7.2433,294,737 - 33,325,759 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl433,294,722 - 33,321,360 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx438,253,781 - 38,280,327 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0434,179,920 - 34,206,462 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0432,589,698 - 32,616,248 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0430,249,749 - 30,276,297 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl430,249,742 - 30,276,372 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0430,156,712 - 30,183,204 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4429,936,314 - 29,964,821 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1429,975,057 - 30,003,299 (-)NCBI
Celera428,821,674 - 28,848,125 (-)NCBICelera
Cytogenetic Map4q21NCBI
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
ChiLan1.0 EnsemblNW_00495543211,893,473 - 11,923,339 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495543211,893,473 - 11,923,035 (-)NCBIChiLan1.0ChiLan1.0
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
NHGRI_mPanPan1-v26113,137,448 - 113,164,333 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan17161,402,051 - 161,428,972 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0787,253,476 - 87,279,650 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.17100,841,286 - 100,867,493 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl7100,841,286 - 100,867,493 (-)Ensemblpanpan1.1panPan2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
CanFam3.11420,565,620 - 20,600,774 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1420,565,641 - 20,642,985 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1420,124,634 - 20,159,679 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01420,388,041 - 20,423,054 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1420,388,051 - 20,422,924 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11420,532,696 - 20,567,711 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01420,267,821 - 20,302,851 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01420,525,175 - 20,560,208 (-)NCBIUU_Cfam_GSD_1.0
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
HiC_Itri_2NW_02440511833,883,628 - 33,908,421 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365854,954,869 - 4,979,591 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365854,954,871 - 4,979,560 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
Sscrofa11.1 Ensembl974,926,048 - 74,974,723 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1974,943,646 - 74,974,720 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2982,327,318 - 82,339,633 (+)NCBISscrofa10.2Sscrofa10.2susScr3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
ChlSab1.12153,713,434 - 53,739,658 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2153,714,012 - 53,739,875 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604250,595,418 - 50,621,447 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
HetGla_female_1.0 EnsemblNW_0046248131,949,614 - 1,979,882 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248131,953,796 - 1,979,846 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2


Variants in PON1
38 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000446.7(PON1):c.575A>G (p.Gln192Arg) single nucleotide variant Coronary artery disease, susceptibility to [RCV000014739]|Coronary artery spasm 2, susceptibility to [RCV000014740]|Enzyme activity finding [RCV000133464]|not provided [RCV001618211] Chr7:95308134 [GRCh38]
Chr7:94937446 [GRCh37]
pathogenic|risk factor|association|benign
NM_000446.7(PON1):c.163T>A (p.Leu55Met) single nucleotide variant Coronary artery disease, susceptibility to [RCV000014742]|Enzyme activity finding [RCV000133465]|Microvascular complications of diabetes, susceptibility to, 5 [RCV000014743]|not provided [RCV001682708] Chr7:95316772 [GRCh38]
Chr7:94946084 [GRCh37]
pathogenic|risk factor|association|benign
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]
NM_000446.7(PON1):c.325G>T (p.Val109Leu) single nucleotide variant not provided [RCV000106288] Chr7:95315367 [GRCh38]
Chr7:94944679 [GRCh37]
not provided
NM_000446.6(PON1):c.-108C>T single nucleotide variant Enzyme activity finding [RCV000133466]|not provided [RCV001650832] Chr7:95324583 [GRCh38]
Chr7:94953895 [GRCh37]
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]
GRCh38/hg38 7q21.3(chr7:95127070-97873487)x1 copy number loss See cases [RCV000135435] Chr7:95127070..97873487 [GRCh38]
Chr7:94756382..97502799 [GRCh37]
Chr7:94594318..97340735 [NCBI36]
GRCh38/hg38 7q21.2-21.3(chr7:92759144-97568646)x1 copy number loss See cases [RCV000141756] Chr7:92759144..97568646 [GRCh38]
Chr7:92388458..97197958 [GRCh37]
Chr7:92226394..97035894 [NCBI36]
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
GRCh37/hg19 7q21.3(chr7:94309218-95455621)x3 copy number gain See cases [RCV000448904] Chr7:94309218..95455621 [GRCh37]
uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
GRCh37/hg19 7q21.2-22.1(chr7:92445452-99686985)x1 copy number loss Split hand-foot malformation 1 [RCV000656540] Chr7:92445452..99686985 [GRCh37]
GRCh37/hg19 7q21.3(chr7:93285237-96280817)x1 copy number loss not provided [RCV000682901] Chr7:93285237..96280817 [GRCh37]
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv inversion Childhood apraxia of speech [RCV000234948] Chr7:21001537..114528369 [GRCh37]
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
GRCh37/hg19 7q21.3(chr7:93700162-96950914)x1 copy number loss not provided [RCV000746898] Chr7:93700162..96950914 [GRCh37]
NM_000446.7(PON1):c.910-146GT[2] microsatellite not provided [RCV001689552] Chr7:95299243..95299244 [GRCh38]
Chr7:94928555..94928556 [GRCh37]
NM_000446.7(PON1):c.202-121G>A single nucleotide variant not provided [RCV001647956] Chr7:95315611 [GRCh38]
Chr7:94944923 [GRCh37]
NM_000446.7(PON1):c.909+267dup duplication not provided [RCV001708089] Chr7:95301923..95301924 [GRCh38]
Chr7:94931235..94931236 [GRCh37]
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
NM_000446.7(PON1):c.603G>A (p.Ala201=) single nucleotide variant not provided [RCV000888420] Chr7:95308106 [GRCh38]
Chr7:94937418 [GRCh37]
NM_000446.7(PON1):c.210G>A (p.Lys70=) single nucleotide variant not provided [RCV000922251] Chr7:95315482 [GRCh38]
Chr7:94944794 [GRCh37]
likely benign
NM_000446.7(PON1):c.707A>G (p.Tyr236Cys) single nucleotide variant Amyotrophic lateral sclerosis [RCV001095522] Chr7:95306358 [GRCh38]
Chr7:94935670 [GRCh37]
uncertain significance
NM_000446.7(PON1):c.498-300AC[14] microsatellite not provided [RCV001659372] Chr7:95308476..95308483 [GRCh38]
Chr7:94937788..94937795 [GRCh37]
NM_000446.7(PON1):c.498-300AC[19] microsatellite not provided [RCV001690860] Chr7:95308475..95308476 [GRCh38]
Chr7:94937787..94937788 [GRCh37]
NM_000446.7(PON1):c.497+284del deletion not provided [RCV001640054] Chr7:95311167 [GRCh38]
Chr7:94940479 [GRCh37]
NM_000446.7(PON1):c.909+83_909+91del deletion not provided [RCV001676626] Chr7:95302114..95302122 [GRCh38]
Chr7:94931426..94931434 [GRCh37]
NM_000446.7(PON1):c.909+246A>G single nucleotide variant not provided [RCV001618811] Chr7:95301959 [GRCh38]
Chr7:94931271 [GRCh37]
NM_000446.7(PON1):c.145+237del deletion not provided [RCV001683951] Chr7:95318086 [GRCh38]
Chr7:94947398 [GRCh37]
NM_000446.7(PON1):c.75-304C>T single nucleotide variant not provided [RCV001698599] Chr7:95318697 [GRCh38]
Chr7:94948009 [GRCh37]
NM_000446.7(PON1):c.780+8G>A single nucleotide variant not provided [RCV000923953] Chr7:95306277 [GRCh38]
Chr7:94935589 [GRCh37]
likely benign
NM_000446.7(PON1):c.699-227T>C single nucleotide variant not provided [RCV001669547] Chr7:95306593 [GRCh38]
Chr7:94935905 [GRCh37]
NM_000446.7(PON1):c.498-101C>T single nucleotide variant not provided [RCV001644011] Chr7:95308312 [GRCh38]
Chr7:94937624 [GRCh37]
NM_000446.7(PON1):c.498-300AC[15] microsatellite not provided [RCV001682212] Chr7:95308476..95308481 [GRCh38]
Chr7:94937788..94937793 [GRCh37]
NM_000446.7(PON1):c.371-149C>A single nucleotide variant not provided [RCV001659549] Chr7:95311726 [GRCh38]
Chr7:94941038 [GRCh37]
NM_000446.7(PON1):c.146-154C>A single nucleotide variant not provided [RCV001608618] Chr7:95316943 [GRCh38]
Chr7:94946255 [GRCh37]
NM_000446.7(PON1):c.909+267_909+268dup duplication not provided [RCV001643235] Chr7:95301923..95301924 [GRCh38]
Chr7:94931235..94931236 [GRCh37]
NM_000446.7(PON1):c.75-264G>A single nucleotide variant not provided [RCV001698923] Chr7:95318657 [GRCh38]
Chr7:94947969 [GRCh37]
NM_000446.7(PON1):c.781-309dup duplication not provided [RCV001656560] Chr7:95302632..95302633 [GRCh38]
Chr7:94931944..94931945 [GRCh37]
NM_000446.7(PON1):c.498-300AC[17] microsatellite not provided [RCV001635846] Chr7:95308476..95308477 [GRCh38]
Chr7:94937788..94937789 [GRCh37]
NM_000446.7(PON1):c.497+176C>T single nucleotide variant not provided [RCV001636289] Chr7:95311275 [GRCh38]
Chr7:94940587 [GRCh37]
NC_000007.14:g.95324637T>C single nucleotide variant not provided [RCV001685810] Chr7:95324637 [GRCh38]
Chr7:94953949 [GRCh37]
NM_000446.7(PON1):c.498-300AC[16] microsatellite not provided [RCV001647741] Chr7:95308476..95308479 [GRCh38]
Chr7:94937788..94937791 [GRCh37]
NM_000446.7(PON1):c.909+130G>A single nucleotide variant not provided [RCV001614329] Chr7:95302075 [GRCh38]
Chr7:94931387 [GRCh37]
NM_000446.7(PON1):c.478A>G (p.Arg160Gly) single nucleotide variant not provided [RCV001650350] Chr7:95311470 [GRCh38]
Chr7:94940782 [GRCh37]
GRCh37/hg19 7q21.3(chr7:93516132-95668733) copy number loss Myoclonic dystonia 11 [RCV001254167] Chr7:93516132..95668733 [GRCh37]
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
GRCh37/hg19 7q21.12-22.1(chr7:87477185-100333327) copy number gain Isolated Pierre-Robin syndrome [RCV001352649] Chr7:87477185..100333327 [GRCh37]
NM_000446.7(PON1):c.376G>A (p.Ala126Thr) single nucleotide variant not provided [RCV001355528] Chr7:95311572 [GRCh38]
Chr7:94940884 [GRCh37]
uncertain significance
NM_000446.7(PON1):c.201+302G>A single nucleotide variant not provided [RCV001643423] Chr7:95316432 [GRCh38]
Chr7:94945744 [GRCh37]
NM_000446.7(PON1):c.498-174_498-173insTT insertion not provided [RCV001709179] Chr7:95308384..95308385 [GRCh38]
Chr7:94937696..94937697 [GRCh37]
NM_000446.7(PON1):c.75-94C>T single nucleotide variant not provided [RCV001709202] Chr7:95318487 [GRCh38]
Chr7:94947799 [GRCh37]
NM_000446.7(PON1):c.201+174C>T single nucleotide variant not provided [RCV001614907] Chr7:95316560 [GRCh38]
Chr7:94945872 [GRCh37]
NC_000007.14:g.95324601G>C single nucleotide variant not provided [RCV001686285] Chr7:95324601 [GRCh38]
Chr7:94953913 [GRCh37]
GRCh37/hg19 7q21.3(chr7:94309218-95455621) copy number gain not specified [RCV002053710] Chr7:94309218..95455621 [GRCh37]
uncertain significance
NM_000446.7(PON1):c.866T>A (p.Met289Lys) single nucleotide variant not provided [RCV002223639] Chr7:95302248 [GRCh38]
Chr7:94931560 [GRCh37]
uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
uncertain significance
GRCh37/hg19 7q21.2-22.1(chr7:92721627-98311537)x1 copy number loss not provided [RCV002474498] Chr7:92721627..98311537 [GRCh37]
NM_000446.7(PON1):c.797C>A (p.Thr266Asn) single nucleotide variant Inborn genetic diseases [RCV002778107] Chr7:95302317 [GRCh38]
Chr7:94931629 [GRCh37]
uncertain significance
NM_000446.7(PON1):c.826G>A (p.Glu276Lys) single nucleotide variant Inborn genetic diseases [RCV002926468] Chr7:95302288 [GRCh38]
Chr7:94931600 [GRCh37]
uncertain significance
NM_000446.7(PON1):c.713C>A (p.Ala238Asp) single nucleotide variant Inborn genetic diseases [RCV002781641] Chr7:95306352 [GRCh38]
Chr7:94935664 [GRCh37]
uncertain significance
NM_000446.7(PON1):c.52A>G (p.Arg18Gly) single nucleotide variant Inborn genetic diseases [RCV002803379] Chr7:95324424 [GRCh38]
Chr7:94953736 [GRCh37]
uncertain significance
NM_000446.7(PON1):c.339C>A (p.Asn113Lys) single nucleotide variant Inborn genetic diseases [RCV003367468] Chr7:95315353 [GRCh38]
Chr7:94944665 [GRCh37]
uncertain significance
GRCh37/hg19 7q21.3(chr7:94813388-96264152)x1 copy number loss not provided [RCV003482969] Chr7:94813388..96264152 [GRCh37]
NM_000446.7(PON1):c.55A>G (p.Asn19Asp) single nucleotide variant not provided [RCV003433941] Chr7:95324421 [GRCh38]
Chr7:94953733 [GRCh37]
likely benign
NM_000446.7(PON1):c.380T>G (p.Met127Arg) single nucleotide variant not provided [RCV003423650] Chr7:95311568 [GRCh38]
Chr7:94940880 [GRCh37]
likely benign
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR616hsa-miR-616-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI23497787

Predicted Target Of
Summary Value
Count of predictions:988
Count of miRNA genes:641
Interacting mature miRNAs:719
Transcripts:ENST00000222381, ENST00000433729, ENST00000462594, ENST00000470502, ENST00000542556
Prediction methods: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.

Markers in Region
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37794,936,918 - 94,937,092UniSTSGRCh37
Build 36794,774,854 - 94,775,028RGDNCBI36
Celera789,635,618 - 89,635,792RGD
Cytogenetic Map7q21.3UniSTS
HuRef789,543,951 - 89,544,125UniSTS
CRA_TCAGchr7v2794,265,915 - 94,266,089UniSTS
GeneMap99-GB4 RH Map7492.54UniSTS
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37794,937,408 - 94,937,521UniSTSGRCh37
Build 36794,775,344 - 94,775,457RGDNCBI36
Celera789,636,108 - 89,636,221RGD
Cytogenetic Map7q21.3UniSTS
HuRef789,544,441 - 89,544,554UniSTS
CRA_TCAGchr7v2794,266,405 - 94,266,518UniSTS
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37794,937,416 - 94,937,514UniSTSGRCh37
Build 36794,775,352 - 94,775,450RGDNCBI36
Celera789,636,116 - 89,636,214RGD
Cytogenetic Map7q21.3UniSTS
HuRef789,544,449 - 89,544,547UniSTS
CRA_TCAGchr7v2794,266,413 - 94,266,511UniSTS
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37794,928,112 - 94,928,249UniSTSGRCh37
Build 36794,766,048 - 94,766,185RGDNCBI36
Celera789,626,809 - 89,626,946RGD
Cytogenetic Map7q21.3UniSTS
HuRef789,535,144 - 89,535,281UniSTS
CRA_TCAGchr7v2794,257,108 - 94,257,245UniSTS
GeneMap99-GB4 RH Map7490.51UniSTS
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37794,927,762 - 94,927,940UniSTSGRCh37
Build 36794,765,698 - 94,765,876RGDNCBI36
Celera789,626,459 - 89,626,637RGD
Cytogenetic Map7q21.3UniSTS
HuRef789,534,794 - 89,534,972UniSTS
CRA_TCAGchr7v2794,256,758 - 94,256,936UniSTS
GeneMap99-GB4 RH Map7496.19UniSTS


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
Medium 1 4 497 410 5 410 17 16 7 1
Low 58 103 456 42 111 37 725 13 1868 40 724 414 7 119 374
Below cutoff 2113 2020 684 160 808 14 3111 1851 1738 207 573 1012 149 1037 2040 2


Nucleotide Sequences
RefSeq Transcripts NG_008779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000446 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC004022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF051133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF402963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF402964 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF402965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF539592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH004193 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH004940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AV652982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC074719 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BJ993711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB122285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D84371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU499312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN106582 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L48710 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC160338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC167097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC269857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC269858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M63012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M63013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M63014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MN461199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MN461200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MN461201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MN461202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MN461203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MN461204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MN461205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MN461206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MN461207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MN461208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MN461209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MN461210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MN461211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MN461212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MN461213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MN461214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MN461215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MN461216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MN461217 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MN461218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MN614098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MN614099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S64615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S64696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U53784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z70723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000222381   ⟹   ENSP00000222381
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl795,297,676 - 95,324,532 (-)Ensembl
RefSeq Acc Id: ENST00000433729   ⟹   ENSP00000407359
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl795,298,914 - 95,324,476 (-)Ensembl
RefSeq Acc Id: ENST00000462594
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl795,298,749 - 95,302,403 (-)Ensembl
RefSeq Acc Id: ENST00000470502
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl795,311,490 - 95,318,587 (-)Ensembl
RefSeq Acc Id: NM_000446   ⟹   NP_000437
RefSeq Status: REVIEWED
Human AssemblyChrPosition (strand)Source
GRCh38795,297,676 - 95,324,532 (-)NCBI
GRCh37794,927,669 - 94,953,884 (-)ENTREZGENE
Build 36794,764,924 - 94,791,780 (-)NCBI Archive
HuRef789,534,701 - 89,560,922 (-)ENTREZGENE
CHM1_1794,857,684 - 94,883,916 (-)NCBI
T2T-CHM13v2.0796,533,832 - 96,560,687 (-)NCBI
CRA_TCAGchr7v2794,256,665 - 94,282,884 (-)ENTREZGENE
Protein Sequences
Protein RefSeqs NP_000437 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA60142 (Get FASTA)   NCBI Sequence Viewer  
  AAA60143 (Get FASTA)   NCBI Sequence Viewer  
  AAA97957 (Get FASTA)   NCBI Sequence Viewer  
  AAB25717 (Get FASTA)   NCBI Sequence Viewer