EPHX1 (epoxide hydrolase 1) - Rat Genome Database

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Gene: EPHX1 (epoxide hydrolase 1) Homo sapiens
Analyze
Symbol: EPHX1
Name: epoxide hydrolase 1
RGD ID: 736560
HGNC Page HGNC:3401
Description: Enables cis-stilbene-oxide hydrolase activity. Involved in arachidonate metabolic process and epoxide metabolic process. Predicted to be located in intracellular membrane-bounded organelle. Implicated in several diseases, including Leber hereditary optic neuropathy; anemia (multiple); hematologic cancer (multiple); respiratory system disease (multiple); and toxic encephalopathy. Biomarker of Alzheimer's disease and lung non-small cell carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: EPHX; EPOX; epoxide hydratase; epoxide hydrolase 1 microsomal; epoxide hydrolase 1, microsomal (xenobiotic); HYL1; MEH
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381225,810,124 - 225,845,563 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1225,810,124 - 225,845,563 (+)EnsemblGRCh38hg38GRCh38
GRCh371225,997,826 - 226,033,264 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361224,079,599 - 224,099,884 (+)NCBINCBI36Build 36hg18NCBI36
Build 341222,319,710 - 222,339,996NCBI
Celera1199,188,853 - 199,224,327 (+)NCBICelera
Cytogenetic Map1q42.12NCBI
HuRef1196,515,661 - 196,550,964 (+)NCBIHuRef
CHM1_11227,270,121 - 227,305,585 (+)NCBICHM1_1
T2T-CHM13v2.01224,998,070 - 225,033,336 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
(2,4,5-trichlorophenoxy)acetic acid  (ISO)
(9R,10S)-9,10-epoxy-9,10-dihydrophenanthrene  (ISO)
(S)-mandelic acid  (EXP)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (ISO)
1,1-dichloroethene  (ISO)
1,2-dibromoethane  (ISO)
1,2-dihydronaphthalene-1,2-diol  (ISO)
1,2-dimethylhydrazine  (ISO)
1,3,5-trimethylbenzene  (EXP)
1,4-dioxane  (ISO)
1-benzofuran  (ISO)
1-naphthyl isothiocyanate  (ISO)
1-nitropropane  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
1H-pyrazole  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,2,2-tetramine  (ISO)
2,2-Bis(bromomethyl)propane-1,3-diol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,3-dimethoxynaphthalene-1,4-dione  (EXP)
2,4,6-tribromophenol  (EXP)
2,4,6-trinitrotoluene  (ISO)
2,4-D  (ISO)
2,4-diaminotoluene  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-diaminotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2,8-bis-Trifluoromethyl-4-quinoline carboxylic acid  (EXP)
2-acetamidofluorene  (ISO)
2-nitro-p-phenylenediamine  (ISO)
2-nitrofluorene  (ISO)
2-nitropropane  (ISO)
2-Oxohexane  (ISO)
2-tert-butylhydroquinone  (EXP,ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,4-dihydrocoumarin  (ISO)
3-chloropropane-1,2-diol  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
3-methylcholanthrene  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one  (ISO)
4-acetylaminofluorene  (ISO)
4-amino-2,6-dinitrotoluene  (ISO)
4-hydroxynon-2-enal  (ISO)
4-hydroxyphenyl retinamide  (ISO)
4-nitro-1,2-phenylenediamine  (ISO)
4-vinylcyclohexene dioxide  (ISO)
5,6alpha-epoxy-5alpha-cholestan-3beta-ol  (ISO)
5-aza-2'-deoxycytidine  (EXP)
5-fluorouracil  (EXP)
7,12-dimethyltetraphene  (EXP,ISO)
8,9-EET  (ISO)
8-Br-cAMP  (EXP)
9,10-epoxy-9,10-dihydrophenanthrene  (ISO)
acetamide  (ISO)
acrylamide  (EXP)
actinomycin D  (EXP)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP,ISO)
alpha-hexachlorocyclohexane  (ISO)
amiodarone  (ISO)
amitriptyline  (ISO)
ammonium chloride  (ISO)
aniline  (ISO)
antimonite  (EXP)
aristolochic acid A  (EXP,ISO)
Aroclor 1254  (EXP,ISO)
arsenite(3-)  (EXP,ISO)
arsenous acid  (EXP)
asbestos  (EXP)
atazanavir sulfate  (EXP)
atrazine  (EXP)
azathioprine  (EXP)
barbiturates  (ISO)
benzene  (EXP,ISO)
benzo[a]pyrene  (EXP,ISO)
Benzo[a]pyrene-7,8-diol  (ISO)
Benzo[a]pyrene-7,8-oxide  (ISO)
benzo[b]fluoranthene  (ISO)
benzo[c]phenanthrene  (EXP,ISO)
benzothiazole  (ISO)
beta-naphthoflavone  (EXP,ISO)
bexarotene  (ISO)
bifenthrin  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP,ISO)
bromobenzene  (ISO)
buspirone  (ISO)
buta-1,3-diene  (EXP,ISO)
butanal  (EXP)
butylated hydroxyanisole  (ISO)
butyric acid  (EXP)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
cannabidiol  (ISO)
captan  (ISO)
carbamazepine  (EXP,ISO)
carbamazepine-10,11-epoxide  (EXP)
carbon nanotube  (ISO)
carmustine  (EXP)
catechol  (ISO)
CGP 52608  (EXP)
chenodeoxycholic acid  (EXP)
chlorohydrocarbon  (ISO)
chloroprene  (ISO)
chrysene  (EXP,ISO)
ciguatoxin CTX1B  (ISO)
cisplatin  (EXP,ISO)
clofibrate  (ISO)
clomipramine  (ISO)
clonazepam  (ISO)
clotrimazole  (ISO)
cobalt dichloride  (EXP)
colforsin daropate hydrochloride  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) chloride  (EXP)
copper(II) sulfate  (EXP)
coumarin  (ISO)
CU-O LINKAGE  (EXP)
Cuprizon  (ISO)
cyclophosphamide  (ISO)
cyclosporin A  (EXP)
cypermethrin  (ISO)
cyproconazole  (ISO)
DDE  (EXP)
DDT  (ISO)
decabromodiphenyl ether  (EXP,ISO)
deoxycholic acid  (EXP)
deoxynivalenol  (ISO)
dexamethasone  (EXP)
dextran sulfate  (ISO)
Diallyl sulfide  (ISO)
diallyl trisulfide  (ISO)
diarsenic trioxide  (EXP)
diazinon  (ISO)
dibenz[a,h]anthracene  (EXP,ISO)
dibenzofurans  (ISO)
dibenzoylmethane  (ISO)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
dichloroacetic acid  (ISO)
diclofenac  (ISO)
dieldrin  (ISO)
diepoxybutane  (EXP,ISO)
diethylstilbestrol  (ISO)
Dihydroxycarbazepine  (EXP)
dioxygen  (ISO)
dipotassium bis[mu-tartrato(4-)]diantimonate(2-) trihydrate  (EXP)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
endosulfan  (ISO)
epoxiconazole  (ISO)
Erucin  (ISO)
estradiol  (ISO)
ethanol  (ISO)
ethoxyquin  (ISO)
ethylparaben  (EXP)
etoposide  (ISO)
felbamate  (ISO)
fenamidone  (ISO)
fenvalerate  (ISO)
finasteride  (ISO)
fipronil  (ISO)
flutamide  (ISO)
folpet  (ISO)
fulvestrant  (EXP)
fumonisin B1  (ISO)
furan  (ISO)
genistein  (EXP)
gentamycin  (ISO)
glafenine  (ISO)
glucoerucin  (ISO)
glucoerucin(1-)  (ISO)
glucoraphanin  (ISO)
glutathione  (ISO)
glycochenodeoxycholic acid  (EXP)
glycocholic acid  (EXP)
glycodeoxycholic acid  (EXP)
gold atom  (EXP)
gold(0)  (EXP)
Heliotrine  (ISO)
Heptachlor epoxide  (ISO)
Hexachloro-1,3-butadiene  (ISO)
hexachlorobenzene  (ISO)
HT-2 toxin  (EXP)
hydrogen peroxide  (ISO)
hydroquinone  (ISO)
imipramine  (ISO)
indole-3-methanol  (ISO)
indometacin  (EXP)
inulin  (ISO)
ivermectin  (EXP)
ketoconazole  (ISO)
kojic acid  (ISO)
L-ascorbic acid  (EXP)
lanosterol  (ISO)
lead diacetate  (EXP)
lead(0)  (EXP)
levofloxacin  (ISO)
lithocholic acid  (ISO)
m-xylene  (EXP)
malathion  (ISO)
mandelic acid  (EXP)
medroxyprogesterone acetate  (EXP)
menadione  (ISO)
mercury dichloride  (ISO)
methamphetamine  (ISO)
methapyrilene  (ISO)
methyl methanesulfonate  (ISO)
methylmercury chloride  (ISO)
mitomycin C  (ISO)
mono(2-ethylhexyl) phthalate  (ISO)
muconic acid  (EXP)
N,N'-diphenylthiourea  (ISO)
N,N-diethyl-m-toluamide  (EXP)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (ISO)
N-ethyl-N-nitrosourea  (ISO)
N-methyl-N-nitrosourea  (ISO)
N-Methylolacrylamide  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
naphthalene  (EXP,ISO)
naphthalene-1,5-diamine  (ISO)
nefazodone  (EXP,ISO)
nickel atom  (EXP)
nimesulide  (EXP,ISO)
nitrofen  (ISO)
Nutlin-3  (EXP)
ochratoxin A  (EXP)
oltipraz  (ISO)
organoselenium compound  (ISO)
oxaliplatin  (ISO)
oxirane  (EXP,ISO)
ozone  (ISO)
p-toluidine  (ISO)
paracetamol  (EXP,ISO)
pentachloronitrobenzene  (ISO)
pentachlorophenol  (ISO)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (ISO)
permethrin  (ISO)
phenethyl isothiocyanate  (ISO)
phenobarbital  (EXP,ISO)
phenol  (ISO)
phenols  (EXP)
phenylglyoxylic acid  (EXP)
phenylmercury acetate  (EXP)
phenytoin  (EXP,ISO)
PhIP  (ISO)
phlorizin  (ISO)
phorbol 13-acetate 12-myristate  (EXP)
phosphoramide mustard  (ISO)
pimecrolimus  (EXP)
piperonyl butoxide  (ISO)
pirinixic acid  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
propiconazole  (ISO)
propionamide  (ISO)
pyrazinecarboxamide  (ISO)
quartz  (EXP)
quercetin  (EXP,ISO)
resveratrol  (EXP,ISO)
rifampicin  (EXP)
rotenone  (ISO)
SB 431542  (EXP)
sevoflurane  (ISO)
silicon dioxide  (EXP)
silver atom  (EXP,ISO)
silver(0)  (EXP,ISO)
sodium arsenite  (EXP)
sodium dichromate  (ISO)
stilbene oxide  (ISO)
stilbenoid  (ISO)
streptozocin  (ISO)
styrene  (EXP,ISO)
styrene oxide  (EXP,ISO)
sulfasalazine  (ISO)
sulforaphane  (EXP,ISO)
sunitinib  (EXP)
tamoxifen  (EXP,ISO)
tert-butyl ethyl ether  (ISO)
tert-butyl hydroperoxide  (ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
tetracycline  (ISO)
Tetramethylthiourea  (ISO)
tetraphene  (EXP,ISO)
thiazoles  (ISO)
thioacetamide  (ISO)
thymoquinone  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
trichloroethene  (ISO)
Tridiphane  (ISO)
triphenyl phosphate  (ISO)
tris(2-butoxyethyl) phosphate  (EXP)
trovafloxacin  (ISO)
valdecoxib  (ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
vincristine  (ISO)
warfarin  (EXP)
zinc atom  (ISO)
zinc sulfate  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

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

References - curated
# Reference Title Reference Citation
1. GSTM1 and mEPHX polymorphisms in Parkinson's disease and age of onset. Ahmadi A, etal., Biochem Biophys Res Commun. 2000 Mar 24;269(3):676-80.
2. Bladder cancer SNP panel predicts susceptibility and survival. Andrew AS, etal., Hum Genet. 2009 Jun;125(5-6):527-39. Epub 2009 Mar 1.
3. Maternal smoking during pregnancy, genetic polymorphisms of metabolic enzymes, and childhood acute leukemia: the ESCALE study (SFCE). Bonaventure A, etal., Cancer Causes Control. 2012 Feb;23(2):329-45. doi: 10.1007/s10552-011-9882-9. Epub 2011 Dec 27.
4. Genetic susceptibility for emphysematous changes of the lung in Japanese. Budhi A, etal., Int J Mol Med. 2003 Mar;11(3):321-9.
5. Biochemical-clinical correlation in patients with different loads of the mitochondrial DNA T8993G mutation. Carelli V, etal., Arch Neurol. 2002 Feb;59(2):264-70.
6. Genetic variants of microsomal epoxide hydrolase and glutamate-cysteine ligase in COPD. Chappell S, etal., Eur Respir J. 2008 Oct;32(4):931-7. Epub 2008 Jul 9.
7. Association of glutathione S-transferase, EPHX, and p53 codon 72 gene polymorphisms with adult acute myeloid leukemia. Chauhan PS, etal., DNA Cell Biol. 2011 Jan;30(1):39-46. doi: 10.1089/dna.2010.1092. Epub 2010 Aug 23.
8. High order interactions of xenobiotic metabolizing genes and P53 codon 72 polymorphisms in acute leukemia. Chauhan PS, etal., Environ Mol Mutagen. 2012 Oct;53(8):619-30. doi: 10.1002/em.21723. Epub 2012 Aug 29.
9. Genetic polymorphisms of EPHX1, Gsk3beta, TNFSF8 and myeloma cell DKK-1 expression linked to bone disease in myeloma. Durie BG, etal., Leukemia. 2009 Oct;23(10):1913-9. doi: 10.1038/leu.2009.129. Epub 2009 Aug 6.
10. Genetic polymorphisms of microsomal and soluble epoxide hydrolase and the risk of Parkinson's disease. Farin FM, etal., Pharmacogenetics. 2001 Nov;11(8):703-8.
11. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
12. Associations of common variants in genes involved in metabolism and response to exogenous chemicals with risk of multiple myeloma. Gold LS, etal., Cancer Epidemiol. 2009 Oct;33(3-4):276-80. doi: 10.1016/j.canep.2009.08.005. Epub 2009 Sep 6.
13. Genetic predisposition and health effect of occupational exposure to asbestos. Horska A, etal., Neuro Endocrinol Lett. 2006 Dec;27 Suppl 2:100-3.
14. Association between polymorphisms of microsomal epoxide hydrolase and COPD: results from meta-analyses. Hu G, etal., Respirology. 2008 Nov;13(6):837-50.
15. Genetic variants of TP53 and EPHX1 in Leber's hereditary optic neuropathy and their relationship to age at onset. Ishikawa K, etal., Jpn J Ophthalmol. 2005 Mar-Apr;49(2):121-6.
16. In vivo optical imaging of revascularization after brain trauma in mice. Jia Y, etal., Microvasc Res. 2011 Jan;81(1):73-80. Epub 2010 Nov 12.
17. Induced hepatotoxicity in female rats by aflatoxin B1 and ethynylestradiol interaction. Kamdem L, etal., Toxicol Appl Pharmacol. 1983 Jan;67(1):26-40. doi: 10.1016/0041-008x(83)90241-7.
18. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
19. Genetic polymorphism of metabolic enzymes modifies the risk of chronic solvent-induced encephalopathy. Kezic S, etal., Toxicol Ind Health. 2006 Aug;22(7):281-9.
20. Pharmacogenomic assessment of cisplatin-based chemotherapy outcomes in ovarian cancer. Khrunin AV, etal., Pharmacogenomics. 2014 Feb;15(3):329-37. doi: 10.2217/pgs.13.237.
21. Association of COPD candidate genes with CT emphysema and airway phenotypes in severe COPD. Kim WJ, etal., Eur Respir J. 2010 Jun 4.
22. [Role of polymorphic variants of cytochrome P450 genes (CYP1A1, CYP2E1) and microsomal epoxide hydrolase (mEPHX) in pathogenesis of cystic fibrosis and chronic respiratory tract diseases] Korytina GF, etal., Mol Biol (Mosk). 2003 Sep-Oct;37(5):784-92.
23. Microsomal Epoxide Hydrolase Gene Polymorphisms and Susceptibility to Chronic Obstructive Pulmonary Disease in Tunisian Population. Lakhdar R, etal., Genet Test Mol Biomarkers. 2010 Oct 9.
24. Genetic polymorphisms in microsomal epoxide hydrolase and susceptibility to adult acute myeloid leukaemia with defined cytogenetic abnormalities. Lebailly P, etal., Br J Haematol. 2002 Mar;116(3):587-94.
25. Beneficial effects of soluble epoxide hydrolase inhibitors in myocardial infarction model: Insight gained using metabolomic approaches. Li N, etal., J Mol Cell Cardiol. 2009 Dec;47(6):835-45. Epub 2009 Aug 28.
26. Genetic polymorphism and gene expression of microsomal epoxide hydrolase in non-small cell lung cancer. Lin TS, etal., Oncol Rep. 2007 Mar;17(3):565-72.
27. Genetic variations in benzene metabolism and susceptibility to multiple myeloma. Lincz LF, etal., Leuk Res. 2007 Jun;31(6):759-63. Epub 2006 Sep 1.
28. Pharmacokinetic optimization of four soluble epoxide hydrolase inhibitors for use in a murine model of inflammation. Liu JY, etal., Br J Pharmacol. 2009 Jan;156(2):284-96. Epub 2009 Jan 13.
29. Expression of microsomal epoxide hydrolase is elevated in Alzheimer's hippocampus and induced by exogenous beta-amyloid and trimethyl-tin. Liu M, etal., Eur J Neurosci. 2006 Apr;23(8):2027-34.
30. The clinical relevance and prognostic significance of microsomal epoxide hydrolase gene polymorphisms and their susceptibility to acquired aplastic anemia: an Egyptian study. Makhlouf MM and Magdy RI, Biomarkers. 2016 Mar 21:1-8.
31. Genetic variants and multiple myeloma risk: IMMEnSE validation of the best reported associations--an extensive replication of the associations from the candidate gene era. Martino A, etal., Cancer Epidemiol Biomarkers Prev. 2014 Apr;23(4):670-4. doi: 10.1158/1055-9965.EPI-13-1115. Epub 2014 Feb 12.
32. Microsomal epoxide hydrolase is not associated with COPD in a community-based sample. Matheson MC, etal., Hum Biol. 2006 Dec;78(6):705-17.
33. Metabolic genotypes as modulators of asbestos-related pleural malignant mesothelioma risk: a comparison of Finnish and Italian populations. Neri M, etal., Int J Hyg Environ Health. 2006 Jul;209(4):393-8. Epub 2006 May 11.
34. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
35. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
36. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
37. Alleviation of lung injury by glycyrrhizic acid in benzo(a)pyrene exposed rats: Probable role of soluble epoxide hydrolase and thioredoxin reductase. Qamar W, etal., Toxicology. 2012 Jan 27;291(1-3):25-31. Epub 2011 Oct 25.
38. Soluble epoxide hydrolase deficiency attenuates neointima formation in the femoral cuff model of hyperlipidemic mice. Revermann M, etal., Arterioscler Thromb Vasc Biol. 2010 May;30(5):909-14. Epub 2010 Mar 11.
39. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
40. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
41. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
42. Microsomal epoxide hydrolase, glutathione S-transferase P1, traffic and childhood asthma. Salam MT, etal., Thorax. 2007 Dec;62(12):1050-7. Epub 2007 Aug 21.
43. Genetic polymorphisms of biotransformation enzymes in patients with Hodgkin's and non-Hodgkin's lymphomas. Sarmanova J, etal., Hum Mol Genet. 2001 Jun 1;10(12):1265-73.
44. Effects of hepatocarcinogens and hepatocarcinogenesis on the activity of rat liver microsomal epoxide hydrolase and observations on the electrophoretic behavior of this enzyme. Sharma RN, etal., Cancer Res. 1981 Sep;41(9 Pt 1):3311-9.
45. Role of the CYP2D6, EPHX1, MPO, and NQO1 genes in the susceptibility to acute lymphoblastic leukemia in Brazilian children. Silveira Vda S, etal., Environ Mol Mutagen. 2010 Jan;51(1):48-56. doi: 10.1002/em.20510.
46. Association between polymorphism in gene for microsomal epoxide hydrolase and susceptibility to emphysema. Smith CA and Harrison DJ, Lancet. 1997 Aug 30;350(9078):630-3.
47. Gene polymorphism for microsomal epoxide hydrolase and susceptibility to emphysema in a Japanese population. Takeyabu K, etal., Eur Respir J. 2000 May;15(5):891-4.
48. Association between polymorphisms of EPHX1 and XRCC1 genes and the risk of childhood acute lymphoblastic leukemia. Tumer TB, etal., Arch Toxicol. 2012 Mar;86(3):431-9. doi: 10.1007/s00204-011-0760-8. Epub 2011 Oct 9.
49. Genetic polymorphisms of glutathione-S-transferase and microsomal epoxide hydrolase in egyptian acquired aplastic anemia patients. Youssry I, etal., J Pediatr Hematol Oncol. 2011 Mar;33(2):89-92. doi: 10.1097/MPH.0b013e3181ff78ce.
50. Role of soluble epoxide hydrolase in the sex-specific vascular response to cerebral ischemia. Zhang W, etal., J Cereb Blood Flow Metab. 2009 Aug;29(8):1475-81. Epub 2009 May 27.
51. Inhibition of human m-epoxide hydrolase gene expression in a case of hypercholanemia. Zhu QS, etal., Biochim Biophys Acta. 2003 Jul 30;1638(3):208-16.
52. A polymorphism in the gene for microsomal epoxide hydrolase is associated with pre-eclampsia. Zusterzeel PL, etal., J Med Genet. 2001 Apr;38(4):234-7.
Additional References at PubMed
PMID:2758034   PMID:2864485   PMID:2891713   PMID:3502697   PMID:7516776   PMID:7835893   PMID:7892276   PMID:7920694   PMID:9255563   PMID:9925921   PMID:10066160   PMID:10828267  
PMID:10965908   PMID:11058921   PMID:11124296   PMID:11191882   PMID:11255266   PMID:11375900   PMID:11440964   PMID:11471167   PMID:11480169   PMID:11489754   PMID:11520401   PMID:11535253  
PMID:11551408   PMID:11597790   PMID:11751440   PMID:11758809   PMID:11809533   PMID:11813302   PMID:11859435   PMID:11940289   PMID:11967624   PMID:12029283   PMID:12085365   PMID:12121132  
PMID:12141066   PMID:12160895   PMID:12173035   PMID:12234472   PMID:12359356   PMID:12376511   PMID:12397416   PMID:12419832   PMID:12477932   PMID:12491039   PMID:12496064   PMID:12552594  
PMID:12605384   PMID:12631667   PMID:12670526   PMID:12717779   PMID:12747973   PMID:12760253   PMID:12798882   PMID:12854128   PMID:12915882   PMID:12935919   PMID:14634838   PMID:14642084  
PMID:14669306   PMID:14681495   PMID:14719475   PMID:14751678   PMID:14984931   PMID:14988221   PMID:15036125   PMID:15061915   PMID:15138035   PMID:15150264   PMID:15199549   PMID:15256148  
PMID:15280903   PMID:15298956   PMID:15352038   PMID:15355699   PMID:15465926   PMID:15466980   PMID:15488121   PMID:15489334   PMID:15531751   PMID:15535985   PMID:15536330   PMID:15582499  
PMID:15618730   PMID:15640066   PMID:15640939   PMID:15654505   PMID:15668489   PMID:15692831   PMID:15702235   PMID:15714076   PMID:15716486   PMID:15719050   PMID:15734960   PMID:15746160  
PMID:15774926   PMID:15817713   PMID:15894702   PMID:15900282   PMID:15901990   PMID:15924351   PMID:15928955   PMID:15938845   PMID:16005144   PMID:16006997   PMID:16029924   PMID:16039674  
PMID:16043197   PMID:16125881   PMID:16147638   PMID:16201204   PMID:16357600   PMID:16369102   PMID:16456143   PMID:16535827   PMID:16538176   PMID:16585076   PMID:16598069   PMID:16614101  
PMID:16614120   PMID:16710414   PMID:16926176   PMID:16985026   PMID:17035385   PMID:17048007   PMID:17078101   PMID:17082176   PMID:17164366   PMID:17167268   PMID:17203192   PMID:17212663  
PMID:17255364   PMID:17363767   PMID:17365145   PMID:17380322   PMID:17412371   PMID:17416769   PMID:17416773   PMID:17449559   PMID:17498780   PMID:17526865   PMID:17532303   PMID:17548684  
PMID:17548691   PMID:17588204   PMID:17590289   PMID:17608547   PMID:17611777   PMID:17686149   PMID:17690329   PMID:17695473   PMID:17767854   PMID:17885617   PMID:17896209   PMID:17908297  
PMID:17996038   PMID:18093316   PMID:18200441   PMID:18258609   PMID:18298806   PMID:18383527   PMID:18394656   PMID:18406439   PMID:18423013   PMID:18461673   PMID:18495522   PMID:18510611  
PMID:18513744   PMID:18550614   PMID:18569587   PMID:18571762   PMID:18619701   PMID:18632753   PMID:18636124   PMID:18642288   PMID:18676680   PMID:18680736   PMID:18768509   PMID:18784359  
PMID:18816171   PMID:18818748   PMID:18836923   PMID:18978678   PMID:18990750   PMID:18992148   PMID:18992263   PMID:19012698   PMID:19017876   PMID:19019335   PMID:19064572   PMID:19074885  
PMID:19111454   PMID:19131562   PMID:19162321   PMID:19170196   PMID:19177501   PMID:19181923   PMID:19287329   PMID:19307236   PMID:19330589   PMID:19336370   PMID:19339270   PMID:19343046  
PMID:19364907   PMID:19415745   PMID:19479063   PMID:19527514   PMID:19528831   PMID:19575027   PMID:19589345   PMID:19620853   PMID:19625176   PMID:19692168   PMID:19751749   PMID:19754350  
PMID:19789190   PMID:19794411   PMID:19898482   PMID:19913121   PMID:19933216   PMID:19952982   PMID:19956635   PMID:19958090   PMID:20091863   PMID:20095411   PMID:20140262   PMID:20200332  
PMID:20233420   PMID:20375710   PMID:20379614   PMID:20403997   PMID:20437850   PMID:20453000   PMID:20461808   PMID:20516053   PMID:20568895   PMID:20602612   PMID:20628086   PMID:20634891  
PMID:20637790   PMID:20659238   PMID:20689807   PMID:20716240   PMID:20842355   PMID:20847076   PMID:20878130   PMID:20886582   PMID:20935060   PMID:20951227   PMID:21044285   PMID:21057703  
PMID:21183608   PMID:21192345   PMID:21228414   PMID:21228703   PMID:21254355   PMID:21302624   PMID:21309732   PMID:21445251   PMID:21453055   PMID:21480392   PMID:21593757   PMID:21598178  
PMID:21649467   PMID:21651746   PMID:21734345   PMID:21841461   PMID:21873635   PMID:21883387   PMID:22103900   PMID:22118311   PMID:22119785   PMID:22156006   PMID:22188362   PMID:22257321  
PMID:22352736   PMID:22447130   PMID:22524818   PMID:22555758   PMID:22658674   PMID:22664944   PMID:22788361   PMID:22798687   PMID:22928041   PMID:22939629   PMID:22986331   PMID:22994552  
PMID:23055191   PMID:23378225   PMID:23451147   PMID:23564882   PMID:23580125   PMID:23651475   PMID:23681797   PMID:23797950   PMID:23928928   PMID:23949201   PMID:23955801   PMID:24013430  
PMID:24125961   PMID:24222229   PMID:24315822   PMID:24457600   PMID:24505354   PMID:24615030   PMID:24803829   PMID:24852519   PMID:24861996   PMID:24958911   PMID:25222243   PMID:25261893  
PMID:25312477   PMID:25495409   PMID:25714851   PMID:25923690   PMID:25992604   PMID:25999707   PMID:26065263   PMID:26179485   PMID:26186194   PMID:26216302   PMID:26295053   PMID:26344197  
PMID:26555147   PMID:26871637   PMID:27173271   PMID:27188524   PMID:27193053   PMID:27256986   PMID:27276192   PMID:27342126   PMID:27783326   PMID:28018104   PMID:28120429   PMID:28464990  
PMID:28514442   PMID:28789952   PMID:29054760   PMID:29180619   PMID:29298899   PMID:29507755   PMID:29605894   PMID:30097533   PMID:30554943   PMID:30644597   PMID:30948266   PMID:31164100  
PMID:31174441   PMID:31348278   PMID:31536960   PMID:31566711   PMID:31594110   PMID:31823010   PMID:31885501   PMID:32067389   PMID:32149426   PMID:32559398   PMID:32614325   PMID:32687490  
PMID:32814053   PMID:33001583   PMID:33024031   PMID:33144569   PMID:33374956   PMID:33567578   PMID:33586574   PMID:33961781   PMID:34066758   PMID:34342583   PMID:34349018   PMID:34411648  
PMID:34672683   PMID:34917906   PMID:35032548   PMID:35124280   PMID:35156780   PMID:35256949   PMID:35271311   PMID:35509820   PMID:35562734   PMID:35696571   PMID:35831314   PMID:35906200  
PMID:35944360   PMID:35993436   PMID:36012204   PMID:36215168   PMID:36517590   PMID:36591768   PMID:37827155   PMID:38697112   PMID:38803224   PMID:39231216  


Genomics

Comparative Map Data
EPHX1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381225,810,124 - 225,845,563 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1225,810,124 - 225,845,563 (+)EnsemblGRCh38hg38GRCh38
GRCh371225,997,826 - 226,033,264 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361224,079,599 - 224,099,884 (+)NCBINCBI36Build 36hg18NCBI36
Build 341222,319,710 - 222,339,996NCBI
Celera1199,188,853 - 199,224,327 (+)NCBICelera
Cytogenetic Map1q42.12NCBI
HuRef1196,515,661 - 196,550,964 (+)NCBIHuRef
CHM1_11227,270,121 - 227,305,585 (+)NCBICHM1_1
T2T-CHM13v2.01224,998,070 - 225,033,336 (+)NCBIT2T-CHM13v2.0
Ephx1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391180,817,121 - 180,845,134 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1180,803,775 - 180,848,469 (-)EnsemblGRCm39 Ensembl
GRCm381180,989,556 - 181,017,569 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1180,976,210 - 181,020,904 (-)EnsemblGRCm38mm10GRCm38
MGSCv371182,919,687 - 182,947,626 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361182,826,231 - 182,854,170 (-)NCBIMGSCv36mm8
Celera1188,055,356 - 188,083,565 (-)NCBICelera
Cytogenetic Map1H4NCBI
cM Map184.48NCBI
Ephx1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81395,246,079 - 95,275,852 (-)NCBIGRCr8
mRatBN7.21392,714,315 - 92,744,105 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1392,714,315 - 92,790,235 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1395,219,628 - 95,249,435 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01396,619,561 - 96,649,355 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01393,794,258 - 93,824,062 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01399,271,390 - 99,300,580 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1399,271,366 - 99,300,579 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.013104,268,704 - 104,297,617 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41396,722,973 - 96,752,940 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11396,912,126 - 96,925,415 (-)NCBI
Celera1392,256,740 - 92,285,424 (-)NCBICelera
RH 3.4 Map13631.9RGD
Cytogenetic Map13q26NCBI
Ephx1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955520116,363 - 128,665 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955520116,363 - 142,983 (-)NCBIChiLan1.0ChiLan1.0
EPHX1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2123,692,322 - 23,727,663 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1123,640,786 - 23,675,962 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01201,271,366 - 201,306,635 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11206,272,866 - 206,307,581 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1206,272,866 - 206,307,581 (+)Ensemblpanpan1.1panPan2
EPHX1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1738,964,319 - 39,004,902 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl738,964,338 - 38,999,238 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha738,446,530 - 38,481,524 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0738,798,288 - 38,833,289 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl738,798,291 - 38,833,208 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1738,638,072 - 38,673,037 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0738,646,207 - 38,681,169 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0738,915,983 - 38,950,983 (-)NCBIUU_Cfam_GSD_1.0
Ephx1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934452,094,468 - 52,163,372 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365262,614,059 - 2,653,286 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365262,589,254 - 2,652,831 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
EPHX1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1013,751,881 - 13,773,072 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11013,757,489 - 13,773,071 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21016,016,584 - 16,054,476 (-)NCBISscrofa10.2Sscrofa10.2susScr3
EPHX1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1253,924,396 - 3,960,264 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl253,924,606 - 3,945,535 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660553,930,701 - 3,966,856 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ephx1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248356,162,111 - 6,168,714 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248356,161,930 - 6,181,016 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in EPHX1
66 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
EPHX1, -4238T-A single nucleotide variant Hypercholanemia, familial 1 [RCV000018080] Chr1:1q42.1 pathogenic|uncertain significance
EPHX1, 2557C-G single nucleotide variant Hypercholanemia, familial 1 [RCV000018081] Chr1:1q42.1 pathogenic|uncertain significance
NM_001136018.4(EPHX1):c.337T>C (p.Tyr113His) single nucleotide variant Cystic fibrosis [RCV000991132]|EPOXIDE HYDROLASE 1 POLYMORPHISM [RCV000018075]|not provided [RCV001610293] Chr1:225831932 [GRCh38]
Chr1:226019633 [GRCh37]
Chr1:1q42.12		 risk factor|benign|drug response
NM_001136018.4(EPHX1):c.416A>G (p.His139Arg) single nucleotide variant EPOXIDE HYDROLASE 1 POLYMORPHISM [RCV000018079]|not provided [RCV001723577] Chr1:225838705 [GRCh38]
Chr1:226026406 [GRCh37]
Chr1:1q42.12		 benign|drug response
GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3 copy number gain See cases [RCV000050981] Chr1:214023812..248918469 [GRCh38]
Chr1:214197155..249212668 [GRCh37]
Chr1:212263778..247179291 [NCBI36]
Chr1:1q32.3-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3 copy number gain See cases [RCV000050581] Chr1:223347693..248918469 [GRCh38]
Chr1:223521035..249212668 [GRCh37]
Chr1:221587658..247179291 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:221902539-248918469)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|See cases [RCV000051875] Chr1:221902539..248918469 [GRCh38]
Chr1:222075881..249212668 [GRCh37]
Chr1:220142504..247179291 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3 copy number gain See cases [RCV000051878] Chr1:223828500..248891309 [GRCh38]
Chr1:224016202..249185508 [GRCh37]
Chr1:222082825..247152131 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3 copy number gain See cases [RCV000051880] Chr1:223887780..248891309 [GRCh38]
Chr1:224075482..249185508 [GRCh37]
Chr1:222142105..247152131 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3 copy number gain See cases [RCV000051882] Chr1:224096488..248918469 [GRCh38]
Chr1:224284190..249212668 [GRCh37]
Chr1:222350813..247179291 [NCBI36]
Chr1:1q42.11-44		 pathogenic
GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3 copy number gain See cases [RCV000051861] Chr1:209646207..248931113 [GRCh38]
Chr1:209819552..249225312 [GRCh37]
Chr1:207886175..247191935 [NCBI36]
Chr1:1q32.2-44		 pathogenic
GRCh38/hg38 1q42.11-42.13(chr1:224096288-227859548)x1 copy number loss See cases [RCV000052311] Chr1:224096288..227859548 [GRCh38]
Chr1:224283990..228047249 [GRCh37]
Chr1:222350613..226113872 [NCBI36]
Chr1:1q42.11-42.13		 pathogenic
GRCh38/hg38 1q41-42.13(chr1:221519280-228862141)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053955]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053955]|See cases [RCV000053955] Chr1:221519280..228862141 [GRCh38]
Chr1:221692622..228997888 [GRCh37]
Chr1:219759245..227064511 [NCBI36]
Chr1:1q41-42.13		 pathogenic
GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3 copy number gain See cases [RCV000134979] Chr1:209963625..248918469 [GRCh38]
Chr1:210136970..249212668 [GRCh37]
Chr1:208203593..247179291 [NCBI36]
Chr1:1q32.2-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3 copy number gain See cases [RCV000135839] Chr1:223815147..248918469 [GRCh38]
Chr1:224002849..249212668 [GRCh37]
Chr1:222069472..247179291 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q41-42.13(chr1:223347693-228556332)x1 copy number loss See cases [RCV000136636] Chr1:223347693..228556332 [GRCh38]
Chr1:223521035..228744033 [GRCh37]
Chr1:221587658..226810656 [NCBI36]
Chr1:1q41-42.13		 pathogenic
GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3 copy number gain See cases [RCV000137769] Chr1:224022862..248918469 [GRCh38]
Chr1:224210564..249212668 [GRCh37]
Chr1:222277187..247179291 [NCBI36]
Chr1:1q42.11-44		 pathogenic
GRCh38/hg38 1q42.12(chr1:225751478-225894702)x3 copy number gain See cases [RCV000140150] Chr1:225751478..225894702 [GRCh38]
Chr1:225939180..226082402 [GRCh37]
Chr1:224005803..224149025 [NCBI36]
Chr1:1q42.12		 uncertain significance
GRCh38/hg38 1q42.12(chr1:225730526-225894702)x1 copy number loss See cases [RCV000141313] Chr1:225730526..225894702 [GRCh38]
Chr1:225918228..226082402 [GRCh37]
Chr1:223984851..224149025 [NCBI36]
Chr1:1q42.12		 uncertain significance
GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3 copy number gain See cases [RCV000142448] Chr1:225438480..248787200 [GRCh38]
Chr1:225626182..249060210 [GRCh37]
Chr1:223692805..247048022 [NCBI36]
Chr1:1q42.12-44		 pathogenic
GRCh38/hg38 1q42.12-42.13(chr1:225382172-230418801)x1 copy number loss See cases [RCV000143223] Chr1:225382172..230418801 [GRCh38]
Chr1:225569874..230554547 [GRCh37]
Chr1:223636497..228621170 [NCBI36]
Chr1:1q42.12-42.13		 pathogenic
GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3 copy number gain See cases [RCV000143727] Chr1:207346642..248930485 [GRCh38]
Chr1:207519987..249224684 [GRCh37]
Chr1:205586610..247191307 [NCBI36]
Chr1:1q32.2-44		 pathogenic
GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3 copy number gain See cases [RCV000240137] Chr1:197811907..228997888 [GRCh37]
Chr1:1q31.3-42.13		 pathogenic
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 copy number gain See cases [RCV000449172] Chr1:195483439..249213000 [GRCh37]
Chr1:1q31.3-44		 pathogenic
GRCh37/hg19 1q41-44(chr1:214697099-249224684)x3 copy number gain See cases [RCV000449210] Chr1:214697099..249224684 [GRCh37]
Chr1:1q41-44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1q42.11-44(chr1:224105294-249224684)x3 copy number gain See cases [RCV000510981] Chr1:224105294..249224684 [GRCh37]
Chr1:1q42.11-44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_001136018.4(EPHX1):c.823A>G (p.Thr275Ala) single nucleotide variant Hypercholanemia, familial 1 [RCV000680161] Chr1:225839929 [GRCh38]
Chr1:226027630 [GRCh37]
Chr1:1q42.12		 uncertain significance
GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3 copy number gain not provided [RCV000684700] Chr1:218252551..249224684 [GRCh37]
Chr1:1q41-44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_001136018.4(EPHX1):c.365-114C>G single nucleotide variant not provided [RCV001680000] Chr1:225838540 [GRCh38]
Chr1:226026241 [GRCh37]
Chr1:1q42.12		 benign
NM_001136018.4(EPHX1):c.722+21GT[21] microsatellite not provided [RCV001725519] Chr1:225839366..225839367 [GRCh38]
Chr1:226027067..226027068 [GRCh37]
Chr1:1q42.12		 benign
NM_001136018.4(EPHX1):c.184-109G>T single nucleotide variant not provided [RCV001666787] Chr1:225831670 [GRCh38]
Chr1:226019371 [GRCh37]
Chr1:1q42.12		 benign
GRCh37/hg19 1q41-42.2(chr1:223653722-234591807)x1 copy number loss not provided [RCV001005180] Chr1:223653722..234591807 [GRCh37]
Chr1:1q41-42.2		 pathogenic
NM_001136018.4(EPHX1):c.184-219_184-214del deletion not provided [RCV001681136] Chr1:225831555..225831560 [GRCh38]
Chr1:226019256..226019261 [GRCh37]
Chr1:1q42.12		 benign
NM_001136018.4(EPHX1):c.1350G>C (p.Ser450=) single nucleotide variant not provided [RCV001679455] Chr1:225845329 [GRCh38]
Chr1:226033030 [GRCh37]
Chr1:1q42.12		 benign
NM_001136018.4(EPHX1):c.1239G>A (p.Val413=) single nucleotide variant not provided [RCV000950621] Chr1:225845218 [GRCh38]
Chr1:226032919 [GRCh37]
Chr1:1q42.12		 benign
NM_001136018.4(EPHX1):c.212G>A (p.Arg71His) single nucleotide variant not provided [RCV000881024] Chr1:225831807 [GRCh38]
Chr1:226019508 [GRCh37]
Chr1:1q42.12		 benign
NM_001136018.4(EPHX1):c.612C>T (p.Thr204=) single nucleotide variant not provided [RCV000929031] Chr1:225839236 [GRCh38]
Chr1:226026937 [GRCh37]
Chr1:1q42.12		 likely benign
NM_001136018.4(EPHX1):c.1223C>T (p.Thr408Met) single nucleotide variant not provided [RCV000923607] Chr1:225845202 [GRCh38]
Chr1:226032903 [GRCh37]
Chr1:1q42.12		 benign
NM_001136018.4(EPHX1):c.1314G>A (p.Pro438=) single nucleotide variant not provided [RCV000894531] Chr1:225845293 [GRCh38]
Chr1:226032994 [GRCh37]
Chr1:1q42.12		 benign
NM_001136018.4(EPHX1):c.762A>G (p.Leu254=) single nucleotide variant not provided [RCV000961352] Chr1:225839868 [GRCh38]
Chr1:226027569 [GRCh37]
Chr1:1q42.12		 benign
GRCh37/hg19 1q42.12(chr1:226028473-226226752)x3 copy number gain not provided [RCV000848242] Chr1:226028473..226226752 [GRCh37]
Chr1:1q42.12		 uncertain significance
GRCh37/hg19 1q41-42.13(chr1:222641389-228137574)x1 copy number loss not provided [RCV001005178] Chr1:222641389..228137574 [GRCh37]
Chr1:1q41-42.13		 pathogenic
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 copy number gain not provided [RCV000845852] Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44		 pathogenic
NM_001136018.4(EPHX1):c.723-207T>C single nucleotide variant not provided [RCV001716815] Chr1:225839622 [GRCh38]
Chr1:226027323 [GRCh37]
Chr1:1q42.12		 benign
NM_001136018.4(EPHX1):c.184-220del deletion not provided [RCV001639276] Chr1:225831547 [GRCh38]
Chr1:226019248 [GRCh37]
Chr1:1q42.12		 benign
NM_001136018.4(EPHX1):c.-5-45G>A single nucleotide variant not provided [RCV001639471] Chr1:225828680 [GRCh38]
Chr1:226016381 [GRCh37]
Chr1:1q42.12		 benign
NM_001136018.4(EPHX1):c.357G>A (p.Lys119=) single nucleotide variant not provided [RCV001710191] Chr1:225831952 [GRCh38]
Chr1:226019653 [GRCh37]
Chr1:1q42.12		 benign
NM_001136018.4(EPHX1):c.184-216_184-213del deletion not provided [RCV001714767] Chr1:225831561..225831564 [GRCh38]
Chr1:226019262..226019265 [GRCh37]
Chr1:1q42.12		 benign
NM_001136018.4(EPHX1):c.722+21GT[22] microsatellite not provided [RCV001657524] Chr1:225839366..225839367 [GRCh38]
Chr1:226027067..226027068 [GRCh37]
Chr1:1q42.12		 benign
NM_001136018.4(EPHX1):c.1166+205G>T single nucleotide variant not provided [RCV001670566] Chr1:225844828 [GRCh38]
Chr1:226032529 [GRCh37]
Chr1:1q42.12		 benign
NM_001136018.4(EPHX1):c.303T>C (p.Phe101=) single nucleotide variant not provided [RCV000894505] Chr1:225831898 [GRCh38]
Chr1:226019599 [GRCh37]
Chr1:1q42.12		 likely benign
NM_001136018.4(EPHX1):c.365-3C>A single nucleotide variant not provided [RCV000961351] Chr1:225838651 [GRCh38]
Chr1:226026352 [GRCh37]
Chr1:1q42.12		 benign
NM_001136018.4(EPHX1):c.1216T>C (p.Leu406=) single nucleotide variant not provided [RCV000961353] Chr1:225845195 [GRCh38]
Chr1:226032896 [GRCh37]
Chr1:1q42.12		 benign
NM_001136018.4(EPHX1):c.145C>T (p.Arg49Cys) single nucleotide variant not provided [RCV000969151] Chr1:225828874 [GRCh38]
Chr1:226016575 [GRCh37]
Chr1:1q42.12		 benign
NM_001136018.4(EPHX1):c.1299G>A (p.Ala433=) single nucleotide variant not provided [RCV000961354] Chr1:225845278 [GRCh38]
Chr1:226032979 [GRCh37]
Chr1:1q42.12		 benign
NM_001136018.4(EPHX1):c.387C>A (p.His129Gln) single nucleotide variant not provided [RCV000994265] Chr1:225838676 [GRCh38]
Chr1:226026377 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001136018.4(EPHX1):c.852C>T (p.Pro284=) single nucleotide variant not provided [RCV001721746] Chr1:225839958 [GRCh38]
Chr1:226027659 [GRCh37]
Chr1:1q42.12		 benign
NM_001136018.4(EPHX1):c.184-225_184-220del deletion not provided [RCV001620242] Chr1:225831547..225831552 [GRCh38]
Chr1:226019248..226019253 [GRCh37]
Chr1:1q42.12		 benign
NM_001136018.4(EPHX1):c.722+21GT[20] microsatellite not provided [RCV001689220] Chr1:225839366..225839367 [GRCh38]
Chr1:226027067..226027068 [GRCh37]
Chr1:1q42.12		 benign
NM_001136018.4(EPHX1):c.364+114G>C single nucleotide variant not provided [RCV001620455] Chr1:225832073 [GRCh38]
Chr1:226019774 [GRCh37]
Chr1:1q42.12		 benign
GRCh37/hg19 1q41-43(chr1:219916966-239004378)x3 copy number gain not provided [RCV001005175] Chr1:219916966..239004378 [GRCh37]
Chr1:1q41-43		 pathogenic
NM_001136018.4(EPHX1):c.*35A>C single nucleotide variant not provided [RCV001654885] Chr1:225845382 [GRCh38]
Chr1:226033083 [GRCh37]
Chr1:1q42.12		 benign
NM_001136018.4(EPHX1):c.184-214_184-213del deletion not provided [RCV001621696] Chr1:225831561..225831562 [GRCh38]
Chr1:226019262..226019263 [GRCh37]
Chr1:1q42.12		 benign
NM_001136018.4(EPHX1):c.184-220dup duplication not provided [RCV001686794] Chr1:225831546..225831547 [GRCh38]
Chr1:226019247..226019248 [GRCh37]
Chr1:1q42.12		 benign
NM_001136018.4(EPHX1):c.183+20G>A single nucleotide variant not provided [RCV001670583] Chr1:225828932 [GRCh38]
Chr1:226016633 [GRCh37]
Chr1:1q42.12		 benign
NM_001136018.4(EPHX1):c.1041-181G>A single nucleotide variant not provided [RCV001721738] Chr1:225844317 [GRCh38]
Chr1:226032018 [GRCh37]
Chr1:1q42.12		 benign
NM_001136018.4(EPHX1):c.1166+206C>A single nucleotide variant not provided [RCV001676824] Chr1:225844829 [GRCh38]
Chr1:226032530 [GRCh37]
Chr1:1q42.12		 benign
NM_001136018.4(EPHX1):c.1248G>A (p.Lys416=) single nucleotide variant not provided [RCV001594515] Chr1:225845227 [GRCh38]
Chr1:226032928 [GRCh37]
Chr1:1q42.12		 benign
GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3 copy number gain See cases [RCV001194578] Chr1:210152794..249218992 [GRCh37]
Chr1:1q32.2-44		 pathogenic
NM_001136018.4(EPHX1):c.-5-29G>A single nucleotide variant not provided [RCV001680125] Chr1:225828696 [GRCh38]
Chr1:226016397 [GRCh37]
Chr1:1q42.12		 benign
NM_001136018.4(EPHX1):c.722+149C>T single nucleotide variant not provided [RCV001691377] Chr1:225839495 [GRCh38]
Chr1:226027196 [GRCh37]
Chr1:1q42.12		 benign
NM_001136018.4(EPHX1):c.741C>T (p.His247=) single nucleotide variant EPHX1-related disorder [RCV003975820]|not provided [RCV001650347] Chr1:225839847 [GRCh38]
Chr1:226027548 [GRCh37]
Chr1:1q42.12		 benign
GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3 copy number gain See cases [RCV001007407] Chr1:204045948..249218992 [GRCh37]
Chr1:1q32.1-44		 pathogenic
NM_001136018.4(EPHX1):c.1167-170A>G single nucleotide variant not provided [RCV001527716] Chr1:225844976 [GRCh38]
Chr1:226032677 [GRCh37]
Chr1:1q42.12		 benign
NM_001136018.4(EPHX1):c.931+126G>A single nucleotide variant not provided [RCV001709043] Chr1:225840163 [GRCh38]
Chr1:226027864 [GRCh37]
Chr1:1q42.12		 benign
NM_001136018.4(EPHX1):c.184-219_184-215del deletion not provided [RCV001616596] Chr1:225831556..225831560 [GRCh38]
Chr1:226019257..226019261 [GRCh37]
Chr1:1q42.12		 benign
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44		 uncertain significance
NM_001136018.4(EPHX1):c.1071C>T (p.Asn357=) single nucleotide variant not provided [RCV001536451] Chr1:225844528 [GRCh38]
Chr1:226032229 [GRCh37]
Chr1:1q42.12		 benign
NM_001136018.4(EPHX1):c.592+34G>A single nucleotide variant not provided [RCV001696029] Chr1:225838915 [GRCh38]
Chr1:226026616 [GRCh37]
Chr1:1q42.12		 benign
NM_001136018.4(EPHX1):c.722+21GT[19] microsatellite not provided [RCV001687975] Chr1:225839366..225839367 [GRCh38]
Chr1:226027067..226027068 [GRCh37]
Chr1:1q42.12		 benign
NM_001136018.4(EPHX1):c.722+154A>G single nucleotide variant not provided [RCV001537191] Chr1:225839500 [GRCh38]
Chr1:226027201 [GRCh37]
Chr1:1q42.12		 benign
NC_000001.10:g.(?_225591005)_(227174438_?)dup duplication not provided [RCV001928108] Chr1:225591005..227174438 [GRCh37]
Chr1:1q42.12-42.13		 uncertain significance
GRCh37/hg19 1q41-42.13(chr1:221303919-227461343) copy number gain not specified [RCV002052845] Chr1:221303919..227461343 [GRCh37]
Chr1:1q41-42.13		 pathogenic
NM_001136018.4(EPHX1):c.1004C>T (p.Thr335Met) single nucleotide variant Neutropenia [RCV002227883] Chr1:225842438 [GRCh38]
Chr1:226030139 [GRCh37]
Chr1:1q42.12		 benign
NM_001136018.4(EPHX1):c.1305T>G (p.Phe435Leu) single nucleotide variant not specified [RCV004327552] Chr1:225845284 [GRCh38]
Chr1:226032985 [GRCh37]
Chr1:1q42.12		 uncertain significance
GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3 copy number gain See cases [RCV002287837] Chr1:197867914..249224684 [GRCh37]
Chr1:1q31.3-44		 pathogenic
NM_001136018.4(EPHX1):c.1115G>A (p.Arg372His) single nucleotide variant not specified [RCV004235512] Chr1:225844572 [GRCh38]
Chr1:226032273 [GRCh37]
Chr1:1q42.12		 uncertain significance
GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3 copy number gain not provided [RCV002475745] Chr1:223972939..249224684 [GRCh37]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2 copy number loss Orofacial cleft 2 [RCV002481175] Chr1:228006998..228061271 [GRCh38]
Chr1:1q32.2-42.13		 association
NM_001136018.4(EPHX1):c.1091C>T (p.Thr364Ile) single nucleotide variant not specified [RCV004130571] Chr1:225844548 [GRCh38]
Chr1:226032249 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001136018.4(EPHX1):c.34G>A (p.Gly12Ser) single nucleotide variant not specified [RCV004083473] Chr1:225828763 [GRCh38]
Chr1:226016464 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001136018.4(EPHX1):c.739C>T (p.His247Tyr) single nucleotide variant not specified [RCV004115658] Chr1:225839845 [GRCh38]
Chr1:226027546 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001136018.4(EPHX1):c.232G>A (p.Asp78Asn) single nucleotide variant not specified [RCV004155182] Chr1:225831827 [GRCh38]
Chr1:226019528 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001136018.4(EPHX1):c.1324G>A (p.Ala442Thr) single nucleotide variant not specified [RCV004210867] Chr1:225845303 [GRCh38]
Chr1:226033004 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001136018.4(EPHX1):c.398C>G (p.Pro133Arg) single nucleotide variant not specified [RCV004116394] Chr1:225838687 [GRCh38]
Chr1:226026388 [GRCh37]
Chr1:1q42.12		 uncertain significance
GRCh37/hg19 1q42.11-43(chr1:224230307-243181599)x3 copy number gain not provided [RCV002509019] Chr1:224230307..243181599 [GRCh37]
Chr1:1q42.11-43		 not provided
NM_001136018.4(EPHX1):c.370G>A (p.Asp124Asn) single nucleotide variant not specified [RCV004091223] Chr1:225838659 [GRCh38]
Chr1:226026360 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001136018.4(EPHX1):c.1165C>T (p.Arg389Trp) single nucleotide variant not specified [RCV004121042] Chr1:225844622 [GRCh38]
Chr1:226032323 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001136018.4(EPHX1):c.898A>G (p.Met300Val) single nucleotide variant not specified [RCV004271544] Chr1:225840004 [GRCh38]
Chr1:226027705 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001136018.4(EPHX1):c.982A>G (p.Lys328Glu) single nucleotide variant not specified [RCV004258879] Chr1:225842416 [GRCh38]
Chr1:226030117 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001136018.4(EPHX1):c.727G>A (p.Val243Met) single nucleotide variant not specified [RCV004349456] Chr1:225839833 [GRCh38]
Chr1:226027534 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001136018.4(EPHX1):c.137A>G (p.Asp46Gly) single nucleotide variant not specified [RCV004360376] Chr1:225828866 [GRCh38]
Chr1:226016567 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001136018.4(EPHX1):c.204T>C (p.Asp68=) single nucleotide variant EPHX1-related disorder [RCV003917007] Chr1:225831799 [GRCh38]
Chr1:226019500 [GRCh37]
Chr1:1q42.12		 benign
GRCh37/hg19 1q41-42.12(chr1:216147522-226765691)x1 copy number loss not provided [RCV004442774] Chr1:216147522..226765691 [GRCh37]
Chr1:1q41-42.12		 pathogenic
NM_001136018.4(EPHX1):c.778C>T (p.Leu260=) single nucleotide variant EPHX1-related disorder [RCV003967320] Chr1:225839884 [GRCh38]
Chr1:226027585 [GRCh37]
Chr1:1q42.12		 likely benign
NM_001136018.4(EPHX1):c.768C>A (p.Asn256Lys) single nucleotide variant EPHX1-related disorder [RCV003951830] Chr1:225839874 [GRCh38]
Chr1:226027575 [GRCh37]
Chr1:1q42.12		 likely benign
NM_001136018.4(EPHX1):c.1072G>A (p.Val358Ile) single nucleotide variant not specified [RCV004378050] Chr1:225844529 [GRCh38]
Chr1:226032230 [GRCh37]
Chr1:1q42.12		 likely benign
NM_001136018.4(EPHX1):c.1147A>C (p.Met383Leu) single nucleotide variant not specified [RCV004378051] Chr1:225844604 [GRCh38]
Chr1:226032305 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001136018.4(EPHX1):c.61C>T (p.Arg21Trp) single nucleotide variant not specified [RCV004378053] Chr1:225828790 [GRCh38]
Chr1:226016491 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001136018.4(EPHX1):c.1328A>T (p.Gln443Leu) single nucleotide variant not specified [RCV004378052] Chr1:225845307 [GRCh38]
Chr1:226033008 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001136018.4(EPHX1):c.640C>T (p.Arg214Trp) single nucleotide variant not specified [RCV004378054] Chr1:225839264 [GRCh38]
Chr1:226026965 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001136018.4(EPHX1):c.853G>A (p.Val285Ile) single nucleotide variant not specified [RCV004378055] Chr1:225839959 [GRCh38]
Chr1:226027660 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001136018.4(EPHX1):c.919C>T (p.Pro307Ser) single nucleotide variant not specified [RCV004378057] Chr1:225840025 [GRCh38]
Chr1:226027726 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001136018.4(EPHX1):c.944A>G (p.Asn315Ser) single nucleotide variant not specified [RCV004378058] Chr1:225842378 [GRCh38]
Chr1:226030079 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001136018.4(EPHX1):c.387C>T (p.His129=) single nucleotide variant EBV-positive nodal T- and NK-cell lymphoma [RCV004560253] Chr1:225838676 [GRCh38]
Chr1:226026377 [GRCh37]
Chr1:1q42.12		 likely benign
NM_001136018.4(EPHX1):c.772T>C (p.Ser258Pro) single nucleotide variant not specified [RCV004620612] Chr1:225839878 [GRCh38]
Chr1:226027579 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001136018.4(EPHX1):c.246C>G (p.His82Gln) single nucleotide variant not specified [RCV004620608] Chr1:225831841 [GRCh38]
Chr1:226019542 [GRCh37]
Chr1:1q42.12		 uncertain significance
NC_000001.10:g.(?_225591005)_(227174438_?)del deletion not provided [RCV004579153] Chr1:225591005..227174438 [GRCh37]
Chr1:1q42.12-42.13		 pathogenic
NM_001136018.4(EPHX1):c.772T>G (p.Ser258Ala) single nucleotide variant not specified [RCV004620609] Chr1:225839878 [GRCh38]
Chr1:226027579 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001136018.4(EPHX1):c.1204C>G (p.Pro402Ala) single nucleotide variant not specified [RCV004620613] Chr1:225845183 [GRCh38]
Chr1:226032884 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001136018.4(EPHX1):c.1094G>A (p.Gly365Asp) single nucleotide variant not specified [RCV004620611] Chr1:225844551 [GRCh38]
Chr1:226032252 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_001136018.4(EPHX1):c.1234T>C (p.Trp412Arg) single nucleotide variant not specified [RCV004620607] Chr1:225845213 [GRCh38]
Chr1:226032914 [GRCh37]
Chr1:1q42.12		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1121
Count of miRNA genes:548
Interacting mature miRNAs:618
Transcripts:ENST00000272167, ENST00000366837, ENST00000445856, ENST00000448202, ENST00000467015
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407131220GWAS780196_Hresponse to cyclophosphamide QTL GWAS780196 (human)0.000007response to cyclophosphamide1225844976225844977Human
407263686GWAS912662_Hasparaginase hypersensitivity QTL GWAS912662 (human)0.0000005asparaginase hypersensitivity1225843697225843698Human
407018995GWAS667971_Hsex hormone-binding globulin measurement QTL GWAS667971 (human)1e-09sex hormone-binding globulin measurement1225838705225838706Human
406989380GWAS638356_Hsex hormone-binding globulin measurement QTL GWAS638356 (human)7e-13sex hormone-binding globulin measurement1225838705225838706Human
406900968GWAS549944_Hfibromuscular dysplasia QTL GWAS549944 (human)0.000003fibromuscular dysplasia1225841073225841074Human
406942569GWAS591545_Hnicotine dependence symptom count QTL GWAS591545 (human)0.000002nicotine dependence symptom count1225830047225830048Human
406932204GWAS581180_Hsoluble triggering receptor expressed on myeloid cells 2 measurement QTL GWAS581180 (human)0.000001soluble triggering receptor expressed on myeloid cells 2 measurement1225827415225827416Human
407237512GWAS886488_Hlipid measurement QTL GWAS886488 (human)0.00001lipid measurementblood lipid measurement (CMO:0000050)1225818396225818397Human

Markers in Region
RH80101  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371226,033,247 - 226,033,469UniSTSGRCh37
Build 361224,099,870 - 224,100,092RGDNCBI36
Celera1199,224,310 - 199,224,532RGD
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map1q42.12UniSTS
HuRef1196,550,947 - 196,551,169UniSTS
Ephx1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371226,030,067 - 226,030,175UniSTSGRCh37
Build 361224,096,690 - 224,096,798RGDNCBI36
Celera1199,221,130 - 199,221,238RGD
HuRef1196,547,765 - 196,547,873UniSTS
SHGC-76452  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371226,028,661 - 226,028,856UniSTSGRCh37
Build 361224,095,284 - 224,095,479RGDNCBI36
Celera1199,219,724 - 199,219,919RGD
Cytogenetic Map1q42.1UniSTS
HuRef1196,546,359 - 196,546,554UniSTS
TNG Radiation Hybrid Map1112454.0UniSTS
GeneMap99-GB4 RH Map1718.55UniSTS
STS-X07936  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371226,033,043 - 226,033,236UniSTSGRCh37
Build 361224,099,666 - 224,099,859RGDNCBI36
Celera1199,224,106 - 199,224,299RGD
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map1q42.12UniSTS
HuRef1196,550,743 - 196,550,936UniSTS
GeneMap99-GB4 RH Map1718.55UniSTS
SHGC-76439  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371226,033,080 - 226,033,230UniSTSGRCh37
Build 361224,099,703 - 224,099,853RGDNCBI36
Celera1199,224,143 - 199,224,293RGD
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map1q42.12UniSTS
HuRef1196,550,780 - 196,550,930UniSTS
TNG Radiation Hybrid Map1112460.0UniSTS
GeneMap99-GB4 RH Map1723.47UniSTS
Whitehead-RH Map1877.9UniSTS
NCBI RH Map12059.8UniSTS
SHGC-76443  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371226,029,939 - 226,030,252UniSTSGRCh37
Build 361224,096,562 - 224,096,875RGDNCBI36
Celera1199,221,002 - 199,221,315RGD
Cytogenetic Map1q42.1UniSTS
HuRef1196,547,637 - 196,547,950UniSTS
TNG Radiation Hybrid Map1112457.0UniSTS
GeneMap99-GB4 RH Map1718.55UniSTS
NCBI RH Map12074.2UniSTS
RH64688  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371226,027,544 - 226,027,738UniSTSGRCh37
Build 361224,094,167 - 224,094,361RGDNCBI36
Celera1199,218,607 - 199,218,801RGD
Cytogenetic Map1q42.1UniSTS
HuRef1196,545,242 - 196,545,436UniSTS
GeneMap99-GB4 RH Map1718.55UniSTS
NCBI RH Map12074.2UniSTS
STS-R42498  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371226,033,126 - 226,033,236UniSTSGRCh37
Build 361224,099,749 - 224,099,859RGDNCBI36
Celera1199,224,189 - 199,224,299RGD
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map1q42.12UniSTS
HuRef1196,550,826 - 196,550,936UniSTS
GeneMap99-GB4 RH Map1718.55UniSTS
UniSTS:142997  
Human AssemblyChrPosition (strand)SourceJBrowse
HuRef1196,547,764 - 196,547,873UniSTS


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
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2437 2788 2253 4974 1726 2351 5 624 1950 465 2270 7303 6470 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001136018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001291163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378429 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_165624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_165625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_165626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_165627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB035519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC099066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF253417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF276624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF276625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF276626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF276627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF276628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF276629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF276630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF276631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF276632 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF276633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF276634 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF276635 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF276636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF276637 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF276638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH005376 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL591895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY948961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC003567 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC095430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BJ994650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU541640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR541963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY180507 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J03518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF032815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L25878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L25879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M36374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U34722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X07936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X15459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y00424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000272167   ⟹   ENSP00000272167
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1225,810,124 - 225,845,563 (+)Ensembl
Ensembl Acc Id: ENST00000366837   ⟹   ENSP00000355802
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1225,825,354 - 225,845,563 (+)Ensembl
Ensembl Acc Id: ENST00000445856   ⟹   ENSP00000398491
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1225,810,092 - 225,838,773 (+)Ensembl
Ensembl Acc Id: ENST00000448202   ⟹   ENSP00000408469
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1225,810,134 - 225,838,697 (+)Ensembl
Ensembl Acc Id: ENST00000467015
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1225,828,843 - 225,832,163 (+)Ensembl
Ensembl Acc Id: ENST00000614058   ⟹   ENSP00000480004
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1225,810,412 - 225,845,559 (+)Ensembl
RefSeq Acc Id: NM_000120   ⟹   NP_000111
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381225,825,354 - 225,845,563 (+)NCBI
GRCh371225,997,797 - 226,033,264 (+)ENTREZGENE
Build 361224,079,599 - 224,099,884 (+)NCBI Archive
HuRef1196,515,661 - 196,550,964 (+)ENTREZGENE
CHM1_11227,285,336 - 227,305,585 (+)NCBI
T2T-CHM13v2.01225,013,120 - 225,033,336 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001136018   ⟹   NP_001129490
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381225,810,124 - 225,845,563 (+)NCBI
GRCh371225,997,797 - 226,033,264 (+)NCBI
HuRef1196,515,661 - 196,550,964 (+)ENTREZGENE
CHM1_11227,270,100 - 227,305,585 (+)NCBI
T2T-CHM13v2.01224,998,070 - 225,033,336 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001291163   ⟹   NP_001278092
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381225,810,124 - 225,845,563 (+)NCBI
CHM1_11227,270,160 - 227,305,585 (+)NCBI
T2T-CHM13v2.01224,998,070 - 225,033,336 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001378426   ⟹   NP_001365355
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381225,810,124 - 225,845,563 (+)NCBI
T2T-CHM13v2.01224,998,070 - 225,033,336 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001378427   ⟹   NP_001365356
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381225,824,211 - 225,845,563 (+)NCBI
T2T-CHM13v2.01225,011,977 - 225,033,336 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001378428   ⟹   NP_001365357
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381225,825,354 - 225,845,563 (+)NCBI
T2T-CHM13v2.01225,013,120 - 225,033,336 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001378429   ⟹   NP_001365358
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381225,810,124 - 225,845,563 (+)NCBI
T2T-CHM13v2.01224,998,070 - 225,033,336 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001378430   ⟹   NP_001365359
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381225,825,354 - 225,845,563 (+)NCBI
T2T-CHM13v2.01225,013,120 - 225,033,336 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001378431   ⟹   NP_001365360
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381225,810,124 - 225,845,563 (+)NCBI
T2T-CHM13v2.01224,998,070 - 225,033,336 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001378432   ⟹   NP_001365361
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381225,810,124 - 225,845,563 (+)NCBI
T2T-CHM13v2.01224,998,070 - 225,033,336 (+)NCBI
Sequence:
RefSeq Acc Id: NR_165624
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381225,810,124 - 225,845,563 (+)NCBI
T2T-CHM13v2.01224,998,070 - 225,033,336 (+)NCBI
Sequence:
RefSeq Acc Id: NR_165625
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381225,810,124 - 225,845,563 (+)NCBI
T2T-CHM13v2.01224,998,070 - 225,033,336 (+)NCBI
Sequence:
RefSeq Acc Id: NR_165626
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381225,810,124 - 225,845,563 (+)NCBI
T2T-CHM13v2.01224,998,070 - 225,033,336 (+)NCBI
Sequence:
RefSeq Acc Id: NR_165627
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381225,825,354 - 225,845,563 (+)NCBI
T2T-CHM13v2.01225,013,120 - 225,033,336 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000111 (Get FASTA)   NCBI Sequence Viewer  
  NP_001129490 (Get FASTA)   NCBI Sequence Viewer  
  NP_001278092 (Get FASTA)   NCBI Sequence Viewer  
  NP_001365355 (Get FASTA)   NCBI Sequence Viewer  
  NP_001365356 (Get FASTA)   NCBI Sequence Viewer  
  NP_001365357 (Get FASTA)   NCBI Sequence Viewer  
  NP_001365358 (Get FASTA)   NCBI Sequence Viewer  
  NP_001365359 (Get FASTA)   NCBI Sequence Viewer  
  NP_001365360 (Get FASTA)   NCBI Sequence Viewer  
  NP_001365361 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA52389 (Get FASTA)   NCBI Sequence Viewer  
  AAA52390 (Get FASTA)   NCBI Sequence Viewer  
  AAA59580 (Get FASTA)   NCBI Sequence Viewer  
  AAA61305 (Get FASTA)   NCBI Sequence Viewer  
  AAB60649 (Get FASTA)   NCBI Sequence Viewer  
  AAC41694 (Get FASTA)   NCBI Sequence Viewer  
  AAF87726 (Get FASTA)   NCBI Sequence Viewer  
  AAF87727 (Get FASTA)   NCBI Sequence Viewer  
  AAF87728 (Get FASTA)   NCBI Sequence Viewer  
  AAF87729 (Get FASTA)   NCBI Sequence Viewer  
  AAF87730 (Get FASTA)   NCBI Sequence Viewer  
  AAF87731 (Get FASTA)   NCBI Sequence Viewer  
  AAF87732 (Get FASTA)   NCBI Sequence Viewer  
  AAF87733 (Get FASTA)   NCBI Sequence Viewer  
  AAF87734 (Get FASTA)   NCBI Sequence Viewer  
  AAF87735 (Get FASTA)   NCBI Sequence Viewer  
  AAF87736 (Get FASTA)   NCBI Sequence Viewer  
  AAF87737 (Get FASTA)   NCBI Sequence Viewer  
  AAF87738 (Get FASTA)   NCBI Sequence Viewer  
  AAH03567 (Get FASTA)   NCBI Sequence Viewer  
  AAH08291 (Get FASTA)   NCBI Sequence Viewer  
  AAH95430 (Get FASTA)   NCBI Sequence Viewer  
  AAX81410 (Get FASTA)   NCBI Sequence Viewer  
  AGL94507 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33500 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33501 (Get FASTA)   NCBI Sequence Viewer  
  BAG36227 (Get FASTA)   NCBI Sequence Viewer  
  CAA30759 (Get FASTA)   NCBI Sequence Viewer  
  CAA68486 (Get FASTA)   NCBI Sequence Viewer  
  CAG46761 (Get FASTA)   NCBI Sequence Viewer  
  EAW69754 (Get FASTA)   NCBI Sequence Viewer  
  EAW69755 (Get FASTA)   NCBI Sequence Viewer  
  EAW69756 (Get FASTA)   NCBI Sequence Viewer  
  EAW69757 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000272167
  ENSP00000272167.5
  ENSP00000355802
  ENSP00000355802.4
  ENSP00000408469.1
  ENSP00000480004
  ENSP00000480004.1
GenBank Protein P07099 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001129490   ⟸   NM_001136018
- Peptide Label: isoform a
- UniProtKB: Q9NQV1 (UniProtKB/Swiss-Prot),   Q9NQV0 (UniProtKB/Swiss-Prot),   Q9NQU9 (UniProtKB/Swiss-Prot),   Q9NQU8 (UniProtKB/Swiss-Prot),   Q9NQU7 (UniProtKB/Swiss-Prot),   Q9NQU6 (UniProtKB/Swiss-Prot),   Q9NPE7 (UniProtKB/Swiss-Prot),   Q9NP75 (UniProtKB/Swiss-Prot),   Q5VTJ6 (UniProtKB/Swiss-Prot),   B2R8N0 (UniProtKB/Swiss-Prot),   Q9NQV2 (UniProtKB/Swiss-Prot),   P07099 (UniProtKB/Swiss-Prot),   R4SBI6 (UniProtKB/TrEMBL),   A0A024R3P4 (UniProtKB/TrEMBL),   Q6FGZ3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_000111   ⟸   NM_000120
- Peptide Label: isoform a
- UniProtKB: Q9NQV1 (UniProtKB/Swiss-Prot),   Q9NQV0 (UniProtKB/Swiss-Prot),   Q9NQU9 (UniProtKB/Swiss-Prot),   Q9NQU8 (UniProtKB/Swiss-Prot),   Q9NQU7 (UniProtKB/Swiss-Prot),   Q9NQU6 (UniProtKB/Swiss-Prot),   Q9NPE7 (UniProtKB/Swiss-Prot),   Q9NP75 (UniProtKB/Swiss-Prot),   Q5VTJ6 (UniProtKB/Swiss-Prot),   B2R8N0 (UniProtKB/Swiss-Prot),   Q9NQV2 (UniProtKB/Swiss-Prot),   P07099 (UniProtKB/Swiss-Prot),   R4SBI6 (UniProtKB/TrEMBL),   A0A024R3P4 (UniProtKB/TrEMBL),   Q6FGZ3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001278092   ⟸   NM_001291163
- Peptide Label: isoform a
- UniProtKB: Q9NQV1 (UniProtKB/Swiss-Prot),   Q9NQV0 (UniProtKB/Swiss-Prot),   Q9NQU9 (UniProtKB/Swiss-Prot),   Q9NQU8 (UniProtKB/Swiss-Prot),   Q9NQU7 (UniProtKB/Swiss-Prot),   Q9NQU6 (UniProtKB/Swiss-Prot),   Q9NPE7 (UniProtKB/Swiss-Prot),   Q9NP75 (UniProtKB/Swiss-Prot),   Q5VTJ6 (UniProtKB/Swiss-Prot),   B2R8N0 (UniProtKB/Swiss-Prot),   Q9NQV2 (UniProtKB/Swiss-Prot),   P07099 (UniProtKB/Swiss-Prot),   R4SBI6 (UniProtKB/TrEMBL),   A0A024R3P4 (UniProtKB/TrEMBL),   Q6FGZ3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001365355   ⟸   NM_001378426
- Peptide Label: isoform a
- UniProtKB: Q9NQV1 (UniProtKB/Swiss-Prot),   Q9NQV0 (UniProtKB/Swiss-Prot),   Q9NQU9 (UniProtKB/Swiss-Prot),   Q9NQU8 (UniProtKB/Swiss-Prot),   Q9NQU7 (UniProtKB/Swiss-Prot),   Q9NQU6 (UniProtKB/Swiss-Prot),   Q9NPE7 (UniProtKB/Swiss-Prot),   Q9NP75 (UniProtKB/Swiss-Prot),   Q5VTJ6 (UniProtKB/Swiss-Prot),   P07099 (UniProtKB/Swiss-Prot),   B2R8N0 (UniProtKB/Swiss-Prot),   Q9NQV2 (UniProtKB/Swiss-Prot),   A0A024R3P4 (UniProtKB/TrEMBL),   R4SBI6 (UniProtKB/TrEMBL),   Q6FGZ3 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001365358   ⟸   NM_001378429
- Peptide Label: isoform c
- UniProtKB: Q6FGZ3 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001365360   ⟸   NM_001378431
- Peptide Label: isoform d
- UniProtKB: Q6FGZ3 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001365361   ⟸   NM_001378432
- Peptide Label: isoform e
RefSeq Acc Id: NP_001365356   ⟸   NM_001378427
- Peptide Label: isoform a
- UniProtKB: Q9NQV1 (UniProtKB/Swiss-Prot),   Q9NQV0 (UniProtKB/Swiss-Prot),   Q9NQU9 (UniProtKB/Swiss-Prot),   Q9NQU8 (UniProtKB/Swiss-Prot),   Q9NQU7 (UniProtKB/Swiss-Prot),   Q9NQU6 (UniProtKB/Swiss-Prot),   Q9NPE7 (UniProtKB/Swiss-Prot),   Q9NP75 (UniProtKB/Swiss-Prot),   Q5VTJ6 (UniProtKB/Swiss-Prot),   P07099 (UniProtKB/Swiss-Prot),   B2R8N0 (UniProtKB/Swiss-Prot),   Q9NQV2 (UniProtKB/Swiss-Prot),   A0A024R3P4 (UniProtKB/TrEMBL),   R4SBI6 (UniProtKB/TrEMBL),   Q6FGZ3 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001365359   ⟸   NM_001378430
- Peptide Label: isoform c
- UniProtKB: Q6FGZ3 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001365357   ⟸   NM_001378428
- Peptide Label: isoform b
- UniProtKB: Q6FGZ3 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000480004   ⟸   ENST00000614058
Ensembl Acc Id: ENSP00000272167   ⟸   ENST00000272167
Ensembl Acc Id: ENSP00000398491   ⟸   ENST00000445856
Ensembl Acc Id: ENSP00000355802   ⟸   ENST00000366837
Ensembl Acc Id: ENSP00000408469   ⟸   ENST00000448202
Protein Domains
AB hydrolase-1   Epoxide hydrolase N-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P07099-F1-model_v2 AlphaFold P07099 1-455 view protein structure

Promoters
RGD ID:6859114
Promoter ID:EPDNEW_H2722
Type:initiation region
Name:EPHX1_1
Description:epoxide hydrolase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2723  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381225,810,124 - 225,810,184EPDNEW
RGD ID:6859116
Promoter ID:EPDNEW_H2723
Type:initiation region
Name:EPHX1_2
Description:epoxide hydrolase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2722  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381225,825,354 - 225,825,414EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3401 AgrOrtholog
COSMIC EPHX1 COSMIC
Ensembl Genes ENSG00000143819 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000272167 ENTREZGENE
  ENST00000272167.10 UniProtKB/Swiss-Prot
  ENST00000366837 ENTREZGENE
  ENST00000366837.5 UniProtKB/Swiss-Prot
  ENST00000448202.5 UniProtKB/TrEMBL
  ENST00000614058 ENTREZGENE
  ENST00000614058.4 UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.50.1820 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000143819 GTEx
HGNC ID HGNC:3401 ENTREZGENE
Human Proteome Map EPHX1 Human Proteome Map
InterPro AB_hydrolase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AB_hydrolase_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Epox_hydrolase-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Epoxide_hydro_N UniProtKB/TrEMBL
  Epoxide_hydrolase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2052 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 2052 ENTREZGENE
OMIM 132810 OMIM
PANTHER EPOXIDE HYDROLASE 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EPOXIDE HYDROLASE 1-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Abhydrolase_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EHN UniProtKB/TrEMBL
PharmGKB EPHX1 RGD, PharmGKB
PIRSF Epoxide_hydrolase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS EPOXHYDRLASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53474 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R3P4 ENTREZGENE
  A0A0S2Z3T1_HUMAN UniProtKB/TrEMBL
  B1AQP8_HUMAN UniProtKB/TrEMBL
  B2R8N0 ENTREZGENE
  HYEP_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q5VTJ6 ENTREZGENE
  Q6FGZ3 ENTREZGENE, UniProtKB/TrEMBL
  Q9NP75 ENTREZGENE
  Q9NPE7 ENTREZGENE
  Q9NQU6 ENTREZGENE
  Q9NQU7 ENTREZGENE
  Q9NQU8 ENTREZGENE
  Q9NQU9 ENTREZGENE
  Q9NQV0 ENTREZGENE
  Q9NQV1 ENTREZGENE
  Q9NQV2 ENTREZGENE
  R4SBI6 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary A0A024R3P4 UniProtKB/TrEMBL
  B2R8N0 UniProtKB/Swiss-Prot
  Q5VTJ6 UniProtKB/Swiss-Prot
  Q9NP75 UniProtKB/Swiss-Prot
  Q9NPE7 UniProtKB/Swiss-Prot
  Q9NQU6 UniProtKB/Swiss-Prot
  Q9NQU7 UniProtKB/Swiss-Prot
  Q9NQU8 UniProtKB/Swiss-Prot
  Q9NQU9 UniProtKB/Swiss-Prot
  Q9NQV0 UniProtKB/Swiss-Prot
  Q9NQV1 UniProtKB/Swiss-Prot
  Q9NQV2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-26 EPHX1  epoxide hydrolase 1  EPHX1  epoxide hydrolase 1, microsomal (xenobiotic)  Symbol and/or name change 5135510 APPROVED