ESR1 (estrogen receptor 1) - Rat Genome Database

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Gene: ESR1 (estrogen receptor 1) Homo sapiens
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Symbol: ESR1
Name: estrogen receptor 1
RGD ID: 736559
HGNC Page HGNC:3467
Description: Enables several functions, including DNA-binding transcription factor activity, RNA polymerase II-specific; general transcription initiation factor binding activity; and transcription coregulator binding activity. Involved in several processes, including RNA polymerase II preinitiation complex assembly; cellular response to lipid; and regulation of DNA-templated transcription. Acts upstream of or within positive regulation of transcription by RNA polymerase II. Located in several cellular components, including nucleus; plasma membrane; and transcription regulator complex. Part of euchromatin. Implicated in several diseases, including artery disease (multiple); bone disease (multiple); breast cancer (multiple); type 2 diabetes mellitus; and vitiligo. Biomarker of several diseases, including breast cancer (multiple); lymphangioleiomyomatosis; osteoporosis; pulmonary hypertension; and reproductive organ cancer (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DKFZp686N23123; E2 receptor alpha; ER; ER-alpha; Era; ESR; ESRA; estradiol receptor; estrogen nuclear receptor alpha; estrogen receptor; estrogen receptor alpha 3*,4,5,6,7*/822 isoform; estrogen receptor alpha delta 3*,4,5,6,7*,8*/941 isoform; estrogen receptor alpha delta 3*,4,5,6,7*/819-2 isoform; estrogen receptor alpha delta 4 +49 isoform; estrogen receptor alpha delta 4*,5,6,7*/654 isoform; estrogen receptor alpha delta 4*,5,6,7,8*/901 isoform; estrogen receptor alpha E1-E2-1-2; estrogen receptor alpha E1-N2-E2-1-2; estrogen receptor alpha splice variant, CTERP-1; estrogen receptor alpha splice variant, ERalphaDup5; estrogen receptor alpha splice variant, ERalphai45a; estrogen receptor alpha splice variant, ERalphai45bL; estrogen receptor alpha splice variant, ERalphai45bS; estrogen receptor alpha splice variant, ERalphai45c; estrogen receptor alpha splice variant, ERalphai56; estrogen receptor alpha splice variant, ERalphai67; ESTRR; NR3A1; nuclear receptor subfamily 3 group A member 1; oestrogen receptor alpha
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
Candidate Gene For: BW323_H BMD3_H BW265_H BW415_H
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh386151,656,672 - 152,129,619 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl6151,656,691 - 152,129,619 (+)EnsemblGRCh38hg38GRCh38
GRCh376151,977,807 - 152,450,754 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 366152,170,379 - 152,466,099 (+)NCBINCBI36Build 36hg18NCBI36
Build 346152,220,799 - 152,516,520NCBI
Celera6152,745,469 - 153,158,143 (+)NCBICelera
Cytogenetic Map6q25.1-q25.2NCBI
HuRef6149,573,851 - 149,986,188 (+)NCBIHuRef
CHM1_16152,275,698 - 152,688,511 (+)NCBICHM1_1
T2T-CHM13v2.06152,857,871 - 153,330,911 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
adenocarcinoma  (EXP)
Alzheimer's disease  (EXP,IAGP)
Animal Disease Models  (EXP)
Animal Mammary Neoplasms  (EXP)
arteriosclerosis  (IAGP)
arthrogryposis multiplex congenita-3  (IAGP)
atherosclerosis  (EXP,ISO)
autosomal dominant Emery-Dreifuss muscular dystrophy 4  (IAGP)
autosomal recessive spinocerebellar ataxia 8  (IAGP)
bone disease  (EXP)
Bone Fractures  (IAGP)
breast cancer  (IAGP,IEP,ISS)
Breast Cancer, Familial  (IAGP)
breast carcinoma  (IDA,IEP)
Breast Neoplasms  (EXP,IAGP)
Bronchial Hyperreactivity  (IAGP)
carcinoma  (EXP)
cataract 33  (ISO)
cerebellar ataxia  (IAGP)
chromosome 6q24-q25 deletion syndrome  (IAGP)
Chronic Periodontitis  (IAGP)
coronary artery disease  (EXP,IAGP)
cryptorchidism  (ISO)
Diabetic Nephropathies  (IAGP,ISO)
Disease Progression  (EXP)
Emery-Dreifuss muscular dystrophy  (IAGP)
Endometrial Neoplasms  (EXP)
Endometrioid Carcinomas  (IEP)
endometriosis  (IAGP)
Estrogen Resistance  (IAGP)
Experimental Arthritis  (ISO)
Experimental Diabetes Mellitus  (ISO)
Experimental Liver Neoplasms  (EXP)
Experimental Mammary Neoplasms  (EXP,ISO)
Female Infertility  (EXP)
Female Urogenital Diseases  (EXP)
Feminization  (EXP)
genetic disease  (IAGP)
Genetic Predisposition to Disease  (EXP)
glomerulonephritis  (EXP)
Hand Osteoarthritis  (IAGP)
Hemorrhagic Shock  (ISO)
hepatocellular carcinoma  (EXP)
Hyperalgesia  (ISO)
in situ carcinoma  (IEP)
infertility  (ISO)
interstitial lung disease 2  (EXP)
Knee Osteoarthritis  (IAGP)
leiomyoma  (EXP)
leukemia  (EXP)
Leydig cell tumor  (IEP)
Liver Neoplasms  (EXP)
Lung Neoplasms  (EXP)
lung non-small cell carcinoma  (IDA)
lymphangioleiomyomatosis  (IEP)
macular degeneration  (IAGP)
male infertility  (EXP)
malignant astrocytoma  (EXP)
melanoma  (IEP)
Mesothelioma  (EXP,IDA)
Metabolic Bone Diseases  (EXP)
migraine  (EXP,IAGP)
mitochondrial metabolism disease  (EXP)
Musculoskeletal Pain  (EXP)
myocardial infarction  (EXP,IAGP,IEA)
Myocardial Reperfusion Injury  (ISO)
Neoplasm Invasiveness  (EXP)
Neoplasm Metastasis  (EXP)
Neoplasm Recurrence, Local  (EXP)
Neoplastic Cell Transformation  (EXP)
neuroblastoma  (EXP)
obesity  (EXP,ISO)
oligospermia  (EXP)
osteoarthritis  (IAGP)
Osteoarthritis, Hip  (IAGP)
osteoporosis  (IAGP,IEP,ISO)
Osteoporotic Fractures  (IAGP,ISO)
ovarian cancer  (ISO)
Parkinsonism  (ISO)
peritonitis  (ISO)
pleurisy  (ISO)
Postmenopausal Osteoporosis  (IAGP)
prostate cancer  (IAGP,IDA,IEP)
prostate carcinoma in situ  (EXP,ISO)
prostatic hypertrophy  (ISO)
Prostatic Neoplasms  (EXP)
pulmonary hypertension  (IEP)
Spinal Cord Injuries  (ISO)
Spinal Fractures  (IAGP)
sporadic breast cancer  (IAGP,IDA)
Subarachnoid Hemorrhage  (ISO)
substance-induced psychosis  (EXP)
systemic scleroderma  (IAGP)
transient cerebral ischemia  (ISO)
type 2 diabetes mellitus  (IAGP)
urinary bladder cancer  (EXP)
Urination Disorders  (ISO)
Varicose Ulcer  (IAGP)
vitiligo  (IAGP)
Vulvar Lichen Sclerosus  (IEP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-bursehernin  (EXP)
(-)-epigallocatechin 3-gallate  (ISO)
(-)-matairesinol  (EXP)
(1->4)-beta-D-glucan  (ISO)
(2,4,5-trichlorophenoxy)acetic acid  (EXP)
(24S)-24-hydroxycholesterol  (EXP)
(25R)-cholest-5-ene-3beta,26-diol  (EXP,ISO)
(3-phenoxyphenyl)methanol  (EXP)
(E)-thiamethoxam  (EXP,ISO)
(R)-camphor  (EXP)
(R)-linalyl acetate  (EXP)
(R)-salsolinol  (EXP)
(R,R,R)-alpha-tocopherol  (ISO)
(S)-colchicine  (EXP)
(S)-naringenin  (EXP,ISO)
(S)-nicotine  (EXP)
1,1,1-trichloro-2,2-bis(4-hydroxyphenyl)ethane  (EXP,ISO)
1,1,1-Trichloro-2-(4-hydroxyphenyl)-2-(4-methoxyphenyl)ethane  (ISO)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (EXP,ISO)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
1,3-dichlorobenzene  (EXP)
1,4-dichlorobenzene  (EXP)
1,4-dithiothreitol  (EXP)
1-(3-(trifluoromethyl)phenyl)piperazine  (EXP)
1-Amino-2,4-dibromoanthraquinone  (EXP)
1-bromopropane  (EXP)
1-chloro-2,4-dinitrobenzene  (EXP)
1-Hydroxypyrene  (EXP)
10H-phenothiazine  (EXP)
16alpha-Bromo-17beta-estradiol  (EXP)
17alpha-ethynylestradiol  (EXP,ISO)
17alpha-hydroxyprogesterone  (EXP)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 17-glucosiduronic acid  (ISO)
17beta-estradiol 3-benzoate  (EXP,ISO)
17beta-hydroxy-5alpha-androstan-3-one  (EXP,ISO)
1H-pyrazole  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (EXP,ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP,ISO)
2,2',4,5'-Tetrabromodiphenyl ether  (EXP)
2,2'-Bisphenol F  (EXP)
2,2'-Dihydroxy-4-methoxybenzophenone  (EXP)
2,2':5',2''-terthiophene  (EXP)
2,2-(2-Chlorophenyl-4'-chlorophenyl)-1,1-dichloroethene  (EXP,ISO)
2,3,3',4,4',5-Hexachlorobiphenyl  (EXP)
2,3,4,5-Tetrachloro-4'-biphenylol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3-bis(4-hydroxyphenyl)propionitrile  (EXP)
2,4,5-trichlorophenol  (EXP)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (EXP,ISO)
2,4-Dihydroxybenzophenone  (EXP)
2,6-diisopropylnaphthalene  (EXP)
2,6-dimethylnaphthalene  (EXP)
2-acetamidofluorene  (ISO)
2-Amino-1,6-dimethylfuro[3,2-e]imidazo[4,5-b]pyridine  (EXP)
2-Aminoanthraquinone  (EXP)
2-benzyl-4-chlorophenol  (EXP,ISO)
2-hydroxy-17beta-estradiol  (EXP)
2-hydroxybenzoic acid (3,3,5-trimethylcyclohexyl) ester  (EXP)
2-hydroxyestrone  (EXP)
2-methoxyethanol  (ISO)
2-sec-butylphenol  (EXP)
2-tert-butylhydroquinone  (EXP)
2-tert-Butylphenol  (EXP)
22-Hydroxycholesterol  (EXP)
25-hydroxycholesterol  (EXP)
26-hydroxycholesterol  (EXP,ISO)
3',5'-cyclic AMP  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (EXP,ISO)
3,3',4,4'-tetrachlorobiphenyl  (EXP,ISO)
3,3',5,5'-tetrabromobisphenol A  (EXP,ISO)
3,3',5-triiodo-L-thyronine  (EXP,ISO)
3,3'-diindolylmethane  (EXP)
3,3'-Dimethylbenzidine  (EXP)
3,3,4,4,5,5,6,6,7,7,8,8,9,9,10,10,10-heptadecafluoro-1-decanol  (EXP)
3,5-di-tert-Butyl-4-hydroxybenzaldehyde  (EXP)
3,6-diaminoacridine  (EXP)
3,7-dihydropurine-6-thione  (ISO)
3-(2,2-dichlorovinyl)-2,2-dimethylcyclopropanecarboxylic acid  (ISO)
3-\{1-[3-(dimethylamino)propyl]-1H-indol-3-yl\}-4-(1H-indol-3-yl)-1H-pyrrole-2,5-dione  (ISO)
3-iodoprop-2-yn-1-yl butylcarbamate  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (EXP,ISO)
3-Methyl-4-(2,6,6-trimethyl-2-cyclohexen-1-yl)-3-buten-2-one  (EXP)
3-methylcholanthrene  (EXP,ISO)
3-methylquinoline  (EXP)
3-phenoxybenzoic acid  (EXP,ISO)
4'-epidoxorubicin  (EXP)
4'-hydroxydiclofenac  (EXP)
4,4'-sulfonyldiphenol  (EXP,ISO)
4,4'-thiodiphenol  (EXP)
4-(5,6,7,8-tetrahydroimidazo[1,5-a]pyridin-5-yl)benzonitrile  (EXP)
4-Acetyl-6-tert-butyl-1,1-dimethylindane  (EXP)
4-chloro-3,5-dimethylphenol  (EXP)
4-ethylphenol  (EXP,ISO)
4-hexylbenzene-1,3-diol  (EXP)
4-hydroxy-17beta-estradiol  (EXP)
4-Hydroxy-N-desmethyltamoxifen  (EXP)
4-Hydroxyazobenzene  (ISO)
4-Hydroxybenzophenone  (EXP,ISO)
4-hydroxyphenyl retinamide  (ISO)
4-Hydroxytestosterone  (EXP)
4-methylquinoline  (EXP)
4-nitrophenol  (ISO)
4-nonylphenol  (EXP,ISO)
4-octylphenol  (EXP,ISO)
4-Propylphenol  (EXP,ISO)
4-terpineol  (EXP)
4-tert-Butylcyclohexyl acetate  (EXP)
4-tert-butylphenol  (EXP,ISO)
4-tert-Octylphenol  (EXP,ISO)
4-vinylcyclohexene dioxide  (ISO)
5-(hydroxymethyl)cytosine  (EXP)
5-aza-2'-deoxycytidine  (EXP)
5-azacytidine  (EXP)
5alpha-pregnane-3,20-dione  (EXP)
6-methylquinoline  (EXP)
6-oxocampestanol  (EXP)
6-prenylnaringenin  (EXP)
6alpha-methylprednisolone  (EXP)
7,12-dimethyltetraphene  (EXP,ISO)
8-methylquinoline  (EXP)
9-cis-retinoic acid  (EXP,ISO)
9-phenanthrol  (EXP)
acetamide  (ISO)
acetochlor  (EXP)
acetylcholine  (ISO)
acrolein  (EXP)
adenosine  (EXP,ISO)
afimoxifene  (EXP,ISO)
aflatoxin B1  (EXP,ISO)
Aflatoxin B2 alpha  (EXP)
alachlor  (EXP)
aldehydo-D-glucose  (EXP,ISO)
aldicarb  (EXP)
aldrin  (EXP)
alizarin  (EXP)
all-trans-phytoene  (EXP)
all-trans-phytofluene  (EXP)
all-trans-retinoic acid  (EXP,ISO)
all-trans-retinol  (EXP)
alpha-hexachlorocyclohexane  (EXP,ISO)
alpha-mangostin  (EXP)
alpha-Methylstyrene  (EXP)
alpha-naphthoflavone  (EXP,ISO)
alpha-terpineol  (EXP)
alpha-Zearalanol  (EXP,ISO)
aluminium atom  (EXP)
aluminium(0)  (EXP)
amsacrine  (EXP)
androgen antagonist  (ISO)
androst-4-ene-3,17-dione  (EXP)
androst-5-ene-3beta,17beta-diol  (EXP)
androstane-3,17-diol  (EXP)
anethole  (EXP,ISO)
anilines  (EXP)
anthracene  (EXP)
antirheumatic drug  (EXP)
apigenin  (EXP,ISO)
Aroclor 1254  (ISO)
arsane  (EXP,ISO)
arsenic atom  (EXP,ISO)
arsenite(3-)  (EXP,ISO)
arsenous acid  (EXP,ISO)
artesunate  (EXP)
atrazine  (EXP,ISO)
avobenzone  (EXP)
azadirachtin A  (EXP,ISO)
azinphos-methyl  (EXP)
baicalein  (EXP)
bazedoxifene  (EXP,ISO)
bendiocarb  (EXP)
benidipine  (EXP)
benomyl  (EXP)
benzamide  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (EXP,ISO)
benzo[d]isothiazol-3-one  (EXP)
benzo[e]pyrene  (EXP)
Benzo[k]fluoranthene  (ISO)
benzoates  (EXP)
benzophenone  (EXP)
benzophenones  (ISO)
benzothiophene  (ISO)
Benzoyl peroxide  (ISO)
benzyl benzoate  (EXP)
Benzyl parahydroxybenzoate  (EXP)
Benzyl salicylate  (EXP)
berberine  (EXP)
beryllium atom  (ISO)
beryllium dihydride  (ISO)
beryllium(0)  (ISO)
beta-carotene  (EXP)
beta-hexachlorocyclohexane  (EXP,ISO)
beta-naphthoflavone  (EXP,ISO)
beta-tocopherol  (ISO)
beta-Zearalanol  (EXP)
bexarotene  (ISO)
bicalutamide  (EXP)
bifenthrin  (EXP)
biochanin A  (EXP,ISO)
biphenyl  (EXP)
biphenyl-2-ol  (EXP)
biphenyl-4,4'-diol  (EXP)
biphenyl-4-ol  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
Bisphenol A diglycidyl ether  (EXP)
bisphenol A dimethacrylate  (EXP)
Bisphenol A glycidylmethacrylate  (EXP)
Bisphenol B  (EXP,ISO)
bisphenol F  (EXP,ISO)
bisphenol F diglycidyl ether  (EXP)
bortezomib  (EXP)
brassinolide  (EXP)
bromocriptine  (ISO)
bromoethane  (EXP,ISO)
Bromofos  (EXP)
Bromophos-ethyl  (EXP)
bromuconazole  (EXP)
bucladesine  (ISO)
butylated hydroxyanisole  (EXP)
Butylbenzyl phthalate  (EXP,ISO)
Butylparaben  (EXP,ISO)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP,ISO)
calcitriol  (EXP)
calcium dihydroxide  (EXP)
camphor  (EXP)
camptothecin  (EXP)
captan  (EXP)
carbamazepine  (EXP,ISO)
carbaryl  (EXP)
carbendazim  (ISO)
carbon nanotube  (ISO)
carfilzomib  (EXP)
cedrol  (EXP)
chloramphenicol  (EXP)
chlordecone  (EXP,ISO)
chlormidazole  (EXP)
chlornitrofen  (EXP)
chlorobenzenes  (EXP)
Chlorobenzilate  (EXP)
chlorogenic acid  (ISO)
chlorohydrocarbon  (EXP)
chloropropylate  (EXP)
chlorpyrifos  (EXP,ISO)
chlorpyrifos-methyl  (EXP)
chromium(6+)  (ISO)
chrysene  (EXP)
chrysin  (EXP)
Ciclesonide  (EXP)
ciclopirox  (EXP)
ciguatoxin CTX1B  (ISO)
cilnidipine  (EXP)
cisplatin  (EXP)
citral  (EXP)
clofibrate  (ISO)
clomiphene  (EXP)
cobalt atom  (EXP)
cobalt dichloride  (EXP)
colforsin daropate hydrochloride  (EXP)
conjugated linoleic acid  (EXP)
copper(II) chloride  (EXP)
corticosterone  (EXP)
cortisol  (EXP)
coumaphos  (EXP)
coumarins  (EXP)
coumestrol  (EXP,ISO)
curcumin  (EXP)
cyanazine  (EXP)
Cyanofenphos  (EXP)
cycloheximide  (EXP)
cyclophosphamide  (EXP)
cycloprothrin  (ISO)
cyclosporin A  (EXP)
cyfluthrin  (EXP,ISO)
cyhalothrin  (EXP,ISO)
cypermethrin  (EXP,ISO)
cyprodinil  (EXP,ISO)
cyproterone acetate  (EXP)
D-aspartic acid  (ISO)
D-glucose  (EXP,ISO)
daidzein  (EXP,ISO)
danazol  (EXP)
daunorubicin  (EXP)
DDD  (EXP)
DDE  (EXP,ISO)
DDT  (EXP,ISO)
dehydroepiandrosterone  (EXP,ISO)
deisopropylatrazine  (EXP)
delta-hexachlorocyclohexane  (EXP)
delta-tocopherol  (ISO)
Deoxymiroestrol  (EXP)
deoxynivalenol  (EXP)
dexamethasone  (EXP,ISO)
dextran sulfate  (ISO)
Di-n-hexyl phthalate  (EXP,ISO)
Di-n-octyl phthalate  (EXP,ISO)
Diallyl sulfide  (EXP)
diarsenic trioxide  (EXP,ISO)
diarylheptanoid  (EXP,ISO)
diazinon  (EXP)
Dibenzo[a,h]pyrene  (EXP)
dibenzothiophene  (EXP)
dibenzoylmethane  (EXP)
dibromoacetic acid  (ISO)
dibutyl phthalate  (EXP,ISO)
Dichlofenthion  (EXP)
dichloromethane  (ISO)
dichlorvos  (EXP)
diclofenac  (EXP)
dicofol  (EXP)
Dicyclohexyl phthalate  (EXP)
dieldrin  (EXP,ISO)
dienestrol  (EXP)
diethyl phthalate  (EXP,ISO)
diethylstilbestrol  (EXP,ISO)
digitoxin  (EXP)
diheptyl phthalate  (EXP)
diisobutyl phthalate  (EXP,ISO)
Diisodecyl phthalate  (ISO)
diisononyl phthalate  (EXP,ISO)
dimethoate  (EXP,ISO)
dimethomorph  (EXP)
dimethyl sulfoxide  (EXP)
dimethylarsinic acid  (EXP)
diniconazole  (EXP)
dioscin  (EXP,ISO)
dioxygen  (EXP,ISO)
dipentyl phthalate  (EXP)
Diphenolic acid  (EXP)
diphenylmethanol  (EXP)
dipropyl phthalate  (EXP)
diquat  (ISO)
disodium selenite  (ISO)
disulfiram  (EXP)
Dithiopyr  (EXP)
diuron  (EXP)
dobutamine  (EXP)
dodecylamine  (EXP)
doxorubicin  (EXP,ISO)
dronedarone  (EXP)
elemental selenium  (ISO)
emamectin benzoate  (ISO)
emetine  (EXP)
emodin  (EXP)
endosulfan  (EXP,ISO)
endrin  (EXP)
enilconazole  (EXP)
enzacamene  (EXP,ISO)
EPN  (EXP)
epoxiconazole  (ISO)
equilin  (EXP,ISO)
equol  (EXP,ISO)
erlotinib hydrochloride  (EXP)
Estradiol dipropionate  (ISO)
estriol  (EXP,ISO)
estrogen  (ISO)
estrone  (EXP,ISO)
Ethalfluralin  (EXP)
ethanol  (EXP,ISO)
ethion  (EXP)
ethisterone  (EXP)
Ethyl cinnamate  (EXP)
ethyl myristate  (EXP)
ethylenediaminetetraacetic acid  (EXP)
Ethylenethiourea  (ISO)
ethylparaben  (EXP,ISO)
etofenprox  (ISO)
etoposide  (EXP)
eugenol  (EXP)
exemestane  (EXP)
farrerol  (ISO)
felodipine  (EXP)
fenamiphos  (EXP)
fenarimol  (EXP)
fenbuconazole  (EXP)
fenhexamid  (EXP)
fenitrothion  (EXP)
fenofibrate  (EXP)
fenthion  (EXP)
fenvalerate  (EXP,ISO)
finasteride  (EXP,ISO)
fingolimod hydrochloride  (EXP)
fipronil  (EXP,ISO)
flavonoids  (EXP,ISO)
fluazifop-butyl  (EXP)
flucythrinate  (EXP)
fludioxonil  (EXP)
flumethrin  (EXP)
Flumetralin  (EXP)
fluoranthene  (EXP,ISO)
fluoxastrobin  (EXP)
flutamide  (EXP,ISO)
flutolanil  (EXP)
folic acid  (ISO)
formaldehyde  (EXP)
formestane  (EXP)
formononetin  (EXP,ISO)
fructose  (ISO)
fulvestrant  (EXP,ISO)
furan  (ISO)
Fusarielin A  (EXP)
galangin  (ISO)
galaxolide  (EXP)
gamma-aminobutyric acid  (EXP)
gamma-hexachlorocyclohexane  (EXP,ISO)
gamma-tocopherol  (ISO)
gefitinib  (EXP)
geldanamycin  (EXP)
gemcitabine  (EXP)
Geniposidic acid  (ISO)
genistein  (EXP,ISO)
geranial  (EXP)
geraniol  (EXP)
gestodene  (EXP)
ginsenoside Re  (EXP)
glucose  (EXP,ISO)
Glutathione ethyl ester  (EXP)
glyceollin  (EXP)
glycitein  (EXP)
glyphosate  (EXP,ISO)
gold atom  (EXP)
gold(0)  (EXP)
gonadorelin  (ISO)
Goserelin  (EXP)
heptachlor  (EXP,ISO)
Heptachlor epoxide  (EXP)
herbicide  (EXP,ISO)
hexachlorobenzene  (EXP,ISO)
hexachlorophene  (EXP)
hexestrol  (EXP)
hydralazine  (EXP)
hydrazine  (ISO)
hydrogen peroxide  (EXP)
hydrogencarbonate  (ISO)
hydroquinone  (EXP)
hydroxyflutamide  (EXP)
ibuprofen  (ISO)
icariside II  (EXP)
Icaritin  (EXP)
ICI-164384  (EXP,ISO)
idarubicin  (EXP)
imidacloprid  (EXP)
imidazoles  (EXP)
Indeno[1,2,3-cd]pyrene  (EXP)
indole-3-methanol  (EXP,ISO)
indoles  (ISO)
inulin  (ISO)
iodoacetic acid  (ISO)
ipriflavone  (EXP)
iprodione  (EXP)
Isobutylparaben  (EXP,ISO)
isofenphos  (EXP)
isoflavones  (EXP,ISO)
Isopropylparaben  (EXP,ISO)
isoprothiolane  (EXP)
isorhamnetin  (EXP)
Isoxanthohumol  (EXP)
ivermectin  (EXP,ISO)
kaempferol  (EXP,ISO)
ketoconazole  (ISO)
L-1,4-dithiothreitol  (EXP)
L-ascorbic acid  (ISO)
lacidipine  (EXP)
lapatinib  (EXP)
Laurolactam  (EXP)
lead(II) chloride  (EXP)
leptomycin B  (EXP)
leptophos  (EXP)
lercanidipine  (EXP)
letrozole  (ISO)
levonorgestrel  (EXP,ISO)
lidocaine  (EXP)
lignin  (ISO)
linalool  (EXP)
linalyl acetate  (EXP)
linuron  (EXP,ISO)
lipopolysaccharide  (ISO)
liquiritigenin  (EXP)
liraglutide  (EXP)
lithium chloride  (EXP)
loratadine  (ISO)
luteolin  (EXP)
luteolin 7-O-beta-D-glucoside  (EXP)
LY 117018  (EXP)
LY294002  (EXP,ISO)
lycopene  (EXP)
Lynestrenol  (EXP)
M1  (EXP)
malathion  (EXP)
mancozeb  (EXP)
manganese atom  (ISO)
manganese(0)  (ISO)
manganese(II) chloride  (ISO)
manidipine  (EXP)
masoprocol  (EXP)
medroxyprogesterone acetate  (EXP)
megestrol acetate  (EXP)
MeIQx  (EXP)
melatonin  (EXP,ISO)
Melengestrol acetate  (EXP)
menadione  (EXP)
mepanipyrim  (ISO)
mercaptopurine  (ISO)
mercury dichloride  (EXP)
mestranol  (EXP)
metconazole  (EXP)
metformin  (EXP,ISO)
methamphetamine  (EXP)
methanol  (EXP)
methapyrilene  (EXP)
methimazole  (ISO)
methiocarb  (EXP,ISO)
methomyl  (EXP)
methoxyacetic acid  (EXP,ISO)
methoxychlor  (EXP,ISO)
methyl 2-methylpropyl 2,6-dimethyl-4-(2-nitrophenyl)-1,4-dihydropyridine-3,5-dicarboxylate  (EXP)
methyl laurate  (EXP)
methyl oleate  (EXP)
Methyl palmitate  (EXP,ISO)
methyl salicylate  (EXP)
methylarsonic acid  (EXP)
methylparaben  (EXP)
methylseleninic acid  (EXP)
methyltestosterone  (EXP,ISO)
metoclopramide  (ISO)
metolachlor  (EXP)
microcystin-LR  (ISO)
mifepristone  (ISO)
mirex  (EXP)
mithramycin  (EXP)
Mitotane  (EXP,ISO)
MK 571  (EXP)
MK-2206  (EXP)
mono(2-ethyl-5-oxohexyl) phthalate  (EXP)
mono(2-ethylhexyl) phthalate  (EXP,ISO)
mono(5-carboxy-2-ethylpentyl) phthalate  (EXP)
monobenzyl phthalate  (EXP,ISO)
Monobutylphthalate  (EXP)
monoethyl phthalate  (EXP,ISO)
Moxestrol  (EXP)
mycophenolic acid  (EXP)
N,N'-diphenyl-1,4-phenylenediamine  (ISO)
N,N-bis(2-hydroxypropyl)nitrosamine  (ISO)
N,N-diethyl-m-toluamide  (EXP)
N-[2-(4-bromocinnamylamino)ethyl]isoquinoline-5-sulfonamide  (EXP)
N-acetyl-L-cysteine  (EXP,ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (EXP,ISO)
N-Desmethyltamoxifen  (EXP)
N-hydroxy-PhIP  (EXP)
N-methyl-4-phenylpyridinium  (EXP,ISO)
N-methyl-N-nitrosourea  (ISO)
N-nitrosodiethylamine  (ISO)
n-propyl gallate  (EXP)
Nafoxidine  (EXP)
nandrolone  (EXP)
Nandrolone decanoate  (ISO)
naphthalene  (EXP)
napropamide  (EXP)
naringin  (ISO)
nebivolol  (EXP)
nicardipine  (EXP)
nickel dichloride  (EXP)
nicotine  (EXP)
nifedipine  (EXP)
nilotinib  (ISO)
nilutamide  (EXP)
nisoldipine  (EXP)
nitrazepam  (EXP)
nitric oxide  (EXP)
nitrofen  (EXP)
nitroprusside  (ISO)
Nonylphenol  (EXP,ISO)
norethisterone  (EXP,ISO)
Norethynodrel  (EXP)
norgestrel  (EXP,ISO)
notoginsenoside R1  (EXP,ISO)
O-Desmethylangolensin  (EXP)
octadecanoic acid  (EXP)
octamethylcyclotetrasiloxane  (EXP)
octocrylene  (EXP)
okadaic acid  (EXP)
ormeloxifene  (ISO)
oryzalin  (EXP)
ospemifene  (EXP)
Oxadiazon  (EXP)
oxamyl  (EXP)
oxidopamine  (ISO)
oxybenzone  (EXP,ISO)
oxymetholone  (EXP)
ozone  (EXP,ISO)
p-tert-Amylphenol  (EXP,ISO)
paclitaxel  (EXP)
paracetamol  (EXP,ISO)
paraoxon  (EXP)
paraquat  (ISO)
parathion  (EXP)
parathion-methyl  (EXP)
pendimethalin  (EXP)
pentachlorophenol  (EXP)
perfluorobutanesulfonic acid  (EXP)
perfluorobutyric acid  (EXP)
perfluorodecanoic acid  (EXP)
perfluorododecanoic acid  (ISO)
perfluorohexanesulfonic acid  (EXP,ISO)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (EXP,ISO)
perfluoropentanoic acid  (EXP)
perfluoroundecanoic acid  (EXP)
permethrin  (EXP,ISO)
phenanthrene  (EXP)
Phenethyl salicylate  (EXP)
phenobarbital  (ISO)
phenol  (EXP)
phenolphthalein  (EXP)
phenols  (EXP)
phenothrin  (EXP)
phenthoate  (EXP)
phenyl salicylate  (EXP)
phenylephrine  (ISO)
phenytoin  (ISO)
PhIP  (EXP,ISO)
phloretin  (EXP)
phorbol 13-acetate 12-myristate  (EXP,ISO)
phosalone  (EXP)
phoxim  (EXP)
phthalic acid  (EXP)
phytoestrogen  (EXP,ISO)
picene  (EXP)
picrotoxinin  (ISO)
piperonyl butoxide  (ISO)
Pirarubicin  (EXP)
pirfenidone  (EXP)
pirimicarb  (EXP)
pirimiphos-methyl  (EXP)
pirinixic acid  (ISO)
platycodin D  (EXP)
potassium atom  (EXP)
potassium dichromate  (ISO)
potassium iodide  (ISO)
prallethrin  (EXP)
pregnenolone  (EXP)
procaine  (EXP)
prochloraz  (EXP)
prochlorperazine  (EXP)
procymidone  (EXP)
progesterone  (EXP,ISO)
propamocarb  (EXP)
propanil  (EXP)
propargite  (EXP)
propham  (ISO)
propiconazole  (EXP)
propoxur  (EXP)
propylparaben  (EXP,ISO)
propyzamide  (EXP)
prostaglandin E2  (EXP)
prostaglandin F2alpha  (ISO)
prothiofos  (EXP)
pterostilbene  (EXP)
puerarin  (ISO)
purine-6-thiol  (ISO)
pyrazoles  (EXP)
pyrene  (EXP)
pyridaben  (EXP)
Pyridate  (EXP)
pyrimethanil  (ISO)
quercetin  (EXP,ISO)
quercetin 3-O-beta-D-galactopyranoside  (EXP)
quinaldine  (EXP)
quinalphos  (EXP)
quinizarin  (EXP)
quinolin-4-ol  (EXP)
quinolin-6-ol  (EXP)
quinoline  (EXP)
quinoline yellow  (EXP)
ractopamine  (EXP)
radicicol  (EXP)
raloxifene  (EXP,ISO)
resmethrin  (EXP)
resorcinol  (EXP)
resveratrol  (EXP,ISO)
Rhapontigenin  (EXP)
ritonavir  (EXP)
rosuvastatin calcium  (ISO)
rotenone  (EXP,ISO)
royal jelly  (EXP)
RU 58668  (EXP)
rubitecan  (EXP)
S-adenosyl-L-methioninate  (EXP)
S-adenosyl-L-methionine  (EXP)
salicylates  (EXP)
SB 203580  (EXP,ISO)
Se-methyl-L-selenocysteine  (EXP)
Se-methylselenocysteine  (EXP)
Selamectin  (EXP,ISO)
selenium atom  (ISO)
semicarbazide  (EXP)
silibinin  (EXP,ISO)
simazine  (EXP)
sirolimus  (EXP)
sodium arsenate  (ISO)
sodium arsenite  (EXP,ISO)
sodium benzoate  (EXP)
sodium fluoride  (ISO)
sophoraflavanone B  (EXP,ISO)
Sophoricoside  (ISO)
staurosporine  (EXP)
stigmasterol  (ISO)
stilben-4-ol  (EXP)
stilbene-4,4'-diol  (EXP)
streptozocin  (ISO)
styrenes  (EXP)
succimer  (ISO)
sulforaphane  (EXP)
sulindac sulfide  (EXP)
sulindac sulfone  (EXP)
sunitinib  (EXP)
Sunset Yellow FCF  (EXP)
superoxide  (EXP)
Swertiamarin  (ISO)
tamibarotene  (EXP)
tamoxifen  (EXP,ISO)
tartrazine  (EXP)
tea tree oil  (EXP)
tebuconazole  (EXP)
tegaserod  (EXP)
Temsirolimus  (EXP)
teniposide  (EXP)
terbufos  (EXP)
terbutylazine  (EXP)
testosterone  (EXP,ISO)
testosterone enanthate  (ISO)
Testosterone propionate  (EXP,ISO)
Tetrachlorobisphenol A  (EXP)
tetrachloromethane  (ISO)
tetrachlorvinphos  (EXP)
tetradifon  (EXP)
tetrahydropalmatine  (ISO)
tetralin  (EXP)
tetramethrin  (ISO)
tetraphene  (EXP,ISO)
thiamethoxam  (EXP,ISO)
thioacetamide  (ISO)
tibolone  (EXP)
tin(II) chloride (anhydrous)  (EXP)
tiratricol  (EXP)
titanium dioxide  (ISO)
tolclofos-methyl  (EXP)
topotecan  (EXP)
toremifene  (EXP,ISO)
toxaphene  (EXP,ISO)
TRAM-34  (EXP)
trans-anethole  (EXP,ISO)
trans-stilbene-4,4'-diol  (EXP)
trenbolone  (EXP)
Tri-2-ethylhexyl trimellitate  (EXP)
triadimefon  (EXP,ISO)
tributyl phosphate  (EXP)
tributylstannane  (EXP,ISO)
trichloroethene  (ISO)
trichostatin A  (EXP,ISO)
triclocarban  (EXP)
triclosan  (EXP,ISO)
trifloxystrobin  (EXP)
trifluralin  (EXP)
trimellitic anhydride  (ISO)
triphenyl phosphate  (EXP,ISO)
Triphenylethylene  (EXP)
triptonide  (ISO)
tris(2-chloroethyl) phosphate  (EXP)
Tris(2-ethylhexyl) phosphate  (EXP)
triticonazole  (EXP)
trovafloxacin  (ISO)
tyrphostin AG 1478  (EXP,ISO)
Urolithin A  (EXP)
valinomycin  (EXP)
valproic acid  (EXP)
vinclozolin  (EXP,ISO)
vincristine  (EXP)
vinyl carbamate  (ISO)
vitamin E  (ISO)
vorinostat  (EXP)
wortmannin  (ISO)
xanthohumol  (EXP)
zearalenone  (EXP,ISO)
zebularine  (EXP)
zidovudine  (ISO)
zinc atom  (EXP,ISO)
zinc oxide  (ISO)
zinc(0)  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
androgen metabolic process  (IEA,ISO)
antral ovarian follicle growth  (IEA,ISO)
baculum development  (ISO)
cellular response to estradiol stimulus  (IDA,IEA,ISS)
cellular response to estrogen stimulus  (IBA,IEA,ISO)
cellular response to wortmannin  (ISO)
chromatin remodeling  (NAS)
decidualization  (ISO)
epithelial cell development  (IEA,ISO)
epithelial cell proliferation involved in mammary gland duct elongation  (IEA,ISO)
fibroblast proliferation  (IEA,ISO)
G protein-coupled receptor signaling pathway  (IEA)
intracellular estrogen receptor signaling pathway  (IBA,IDA,IEA,NAS)
intracellular steroid hormone receptor signaling pathway  (ISO,ISS)
male gonad development  (IEA,ISO)
mammary gland alveolus development  (IEA,ISO)
mammary gland branching involved in pregnancy  (IEA,ISO)
negative regulation of canonical NF-kappaB signal transduction  (IDA)
negative regulation of gene expression  (IDA)
negative regulation of glucose import  (ISO)
negative regulation of miRNA transcription  (IMP)
negative regulation of neuron apoptotic process  (ISO)
negative regulation of smooth muscle cell apoptotic process  (ISS)
negative regulation of smooth muscle cell proliferation  (ISO)
negative regulation of transcription by RNA polymerase II  (IMP)
negative regulation of triglyceride metabolic process  (ISO)
osteoblast development  (ISO)
phospholipase C-activating G protein-coupled receptor signaling pathway  (ISS)
positive regulation of cytosolic calcium ion concentration  (ISS)
positive regulation of DNA-templated transcription  (IDA)
positive regulation of epidermal growth factor receptor signaling pathway  (ISO)
positive regulation of epithelial cell proliferation  (ISO)
positive regulation of ERK1 and ERK2 cascade  (ISO)
positive regulation of fibroblast proliferation  (IEA,ISO)
positive regulation of nitric oxide biosynthetic process  (IDA)
positive regulation of transcription by RNA polymerase II  (IDA,IEA)
prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis  (IEA,ISO)
prostate epithelial cord elongation  (IEA,ISO)
protein localization to chromatin  (IMP)
regulation of branching involved in prostate gland morphogenesis  (IEA,ISO)
regulation of DNA-templated transcription  (IEA,ISO,NAS)
regulation of epithelial cell apoptotic process  (IEA,ISO)
regulation of inflammatory response  (IEA,ISO)
regulation of toll-like receptor signaling pathway  (IEA,ISO)
regulation of transcription by RNA polymerase II  (IBA,IEA)
response to estradiol  (IDA,ISO)
response to estrogen  (IDA)
RNA polymerase II preinitiation complex assembly  (IDA)
Sertoli cell development  (ISO)
Sertoli cell proliferation  (ISO)
signal transduction  (TAS)
stem cell differentiation  (IEA)
steroid hormone mediated signaling pathway  (IC,IEA,IMP)
transcription by RNA polymerase II  (IEA,ISO)
uterus development  (IEA,ISO)
vagina development  (IEA,ISO)

Cellular Component

Molecular Function
14-3-3 protein binding  (IPI)
ATPase binding  (IDA)
beta-catenin binding  (IPI)
calmodulin binding  (EXP)
chromatin binding  (IDA,IEA)
DNA binding  (IEA,ISO)
DNA-binding transcription activator activity, RNA polymerase II-specific  (IDA)
DNA-binding transcription factor activity  (IEA,NAS)
DNA-binding transcription factor activity, RNA polymerase II-specific  (ISA)
enzyme binding  (IPI,ISO)
estrogen response element binding  (IBA,IDA,IEA)
G protein-coupled estrogen receptor activity  (IC,IMP)
hormone binding  (ISO)
identical protein binding  (IPI)
metal ion binding  (IEA)
nitric-oxide synthase regulator activity  (NAS)
nuclear estrogen receptor activity  (IDA,IEA,NAS,TAS)
nuclear estrogen receptor binding  (IPI)
nuclear receptor activity  (IBA,IDA,IEA,IGI)
nuclear steroid receptor activity  (IEA,ISO,NAS)
phosphatidylinositol 3-kinase regulatory subunit binding  (ISO)
promoter-specific chromatin binding  (ISO)
protein binding  (IPI,ISO)
protein kinase binding  (IPI)
protein-containing complex binding  (ISO)
RNA polymerase II cis-regulatory region sequence-specific DNA binding  (IDA)
sequence-specific DNA binding  (IEA)
sequence-specific double-stranded DNA binding  (IDA,IEA)
steroid binding  (IEA,ISO,ISS)
TBP-class protein binding  (IPI)
TFIIB-class transcription factor binding  (IPI)
transcription coactivator binding  (IPI,ISO)
transcription coregulator binding  (IPI)
transcription corepressor binding  (IPI)
type 1 metabotropic glutamate receptor binding  (ISO)
zinc ion binding  (IEA)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal circulating hormone concentration  (IAGP)
Abnormal circulating testosterone concentration  (IAGP)
Abnormal heart morphology  (IAGP)
Abnormality of the adrenal glands  (IAGP)
Abnormality of the pubic hair  (IAGP)
Abnormality of the vertebral column  (IAGP)
Absence of pubertal development  (IAGP)
Absence of secondary sex characteristics  (IAGP)
Acanthosis nigricans  (IAGP)
Acne  (IAGP)
Ataxia  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Breast aplasia  (IAGP)
Breast carcinoma  (IAGP)
Breast hypoplasia  (IAGP)
Coronary artery atherosclerosis  (IAGP)
Delayed epiphyseal ossification  (IAGP)
Delayed puberty  (IAGP)
Delayed skeletal maturation  (IAGP)
Elevated alkaline phosphatase of bone origin  (IAGP)
Elevated tissue non-specific alkaline phosphatase  (IAGP)
Enlarged polycystic ovaries  (IAGP)
Episodic abdominal pain  (IAGP)
Glucose intolerance  (IAGP)
Hip osteoarthritis  (IAGP)
Hyperinsulinemia  (IAGP)
Hypoplasia of the uterus  (IAGP)
Impaired glucose tolerance  (IAGP)
Increased circulating gonadotropin level  (IAGP)
Increased circulating osteocalcin level  (IAGP)
Increased serum estradiol  (IAGP)
Increased susceptibility to fractures  (IAGP)
Juvenile onset  (IAGP)
Knee osteoarthritis  (IAGP)
Macular degeneration  (IAGP)
Marked delay in bone age  (IAGP)
Migraine with aura  (IAGP)
Migraine without aura  (IAGP)
Nausea  (IAGP)
Neoplasm of the breast  (IAGP)
Osteoarthritis  (IAGP)
Osteoarthritis of the small joints of the hand  (IAGP)
Osteopenia  (IAGP)
Osteoporosis  (IAGP)
Overgrowth  (IAGP)
Phonophobia  (IAGP)
Photophobia  (IAGP)
Polycystic ovaries  (IAGP)
Primary amenorrhea  (IAGP)
Scleroderma  (IAGP)
Tall stature  (IAGP)
Typified by somatic mosaicism  (IAGP)
Vomiting  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Mutational and polymorphic analysis of the estradiol receptor-alpha gene in men with symptomatic vertebral fractures. Allcroft LC, etal., Calcif Tissue Int. 2002 Nov;71(5):400-5. Epub 2002 Aug 19.
2. The promoter C specific ERalpha isoform is associated with tamoxifen outcome in breast cancer. Amaral S, etal., Breast Cancer Res Treat. 2009 Nov;118(2):323-31. doi: 10.1007/s10549-008-0241-9. Epub 2008 Nov 15.
3. The dinucleotide (CA) repeat polymorphism of estrogen receptor beta but not the dinucleotide (TA) repeat polymorphism of estrogen receptor alpha is associated with venous ulceration. Ashworth JJ, etal., J Steroid Biochem Mol Biol. 2005 Nov;97(3):266-70. Epub 2005 Sep 8.
4. Opposing roles of ERalpha and ERbeta in the genesis and progression of adenocarcinoma in the rat ventral prostate. Attia DM and Ederveen AG, Prostate. 2012 Jun 15;72(9):1013-22. doi: 10.1002/pros.21507. Epub 2011 Oct 24.
5. Breast cancer, estrogen receptor and ligands. Bai Z and Gust R, Arch Pharm (Weinheim). 2009 Mar;342(3):133-49.
6. The possible role of estrogen and selective estrogen receptor modulators in a rat model of Parkinson's disease. Baraka AM, etal., Life Sci. 2011 May 9;88(19-20):879-85. doi: 10.1016/j.lfs.2011.03.010. Epub 2011 Mar 21.
7. The genetic association database. Becker KG, etal., Nat Genet. 2004 May;36(5):431-2.
8. Association of estrogen receptor alpha gene polymorphisms and lifestyle factors with calcaneal quantitative ultrasound and osteoporosis in postmenopausal Vietnamese women. Binh TQ, etal., J Hum Genet. 2006;51(11):1022-9. Epub 2006 Sep 14.
9. Estrogen receptor alpha gene polymorphisms associated with incident aging macula disorder. Boekhoorn SS, etal., Invest Ophthalmol Vis Sci. 2007 Mar;48(3):1012-7.
10. Preliminary evidence for impaired estrogen receptor-alpha protein expression in osteoblasts and osteocytes from men with idiopathic osteoporosis. Braidman I, etal., Bone. 2000 May;26(5):423-7.
11. Association of the estrogen receptor alpha gene polymorphisms with sporadic Alzheimer's disease. Brandi ML, etal., Biochem Biophys Res Commun 1999 Nov 19;265(2):335-8.
12. Detection of aromatase and estrogen receptors (ERalpha, ERbeta1, ERbeta2) in human Leydig cell tumor. Carpino A, etal., Eur J Endocrinol. 2007 Aug;157(2):239-44.
13. Effects of agonists for estrogen receptor alpha and beta on ovariectomy-induced lower urinary tract dysfunction in the rat. Cheng CL and de Groat WC, Am J Physiol Renal Physiol. 2014 Jan;306(2):F181-7. doi: 10.1152/ajprenal.00298.2013. Epub 2013 Nov 20.
14. Callus formation is related to the expression ratios of estrogen receptors-alpha and -beta in ovariectomy-induced osteoporotic fracture healing. Chow SK, etal., Arch Orthop Trauma Surg. 2014 Oct;134(10):1405-16. doi: 10.1007/s00402-014-2070-0. Epub 2014 Aug 2.
15. Interaction between vitamin D receptor genotype and estrogen receptor alpha genotype influences vertebral fracture risk. Colin EM, etal., J Clin Endocrinol Metab. 2003 Aug;88(8):3777-84.
16. Risk factors for breast cancer characterized by the estrogen receptor alpha A908G (K303R) mutation. Conway K, etal., Breast Cancer Res. 2007;9(3):R36.
17. Estrogen receptor antagonist fulvestrant (ICI 182,780) inhibits the anti-inflammatory effect of glucocorticoids. Cuzzocrea S, etal., Mol Pharmacol. 2007 Jan;71(1):132-44. Epub 2006 Oct 11.
18. Estrogen receptor alpha gene variants associate with type 2 diabetes and fasting plasma glucose. Dahlman I, etal., Pharmacogenet Genomics. 2008 Nov;18(11):967-75.
19. Association of single nucleotide polymorphisms in estrogen receptor alpha gene with susceptibility to knee osteoarthritis: a case-control study in a Chinese Han population. Dai X, etal., Biomed Res Int. 2014;2014:151457. doi: 10.1155/2014/151457. Epub 2014 Mar 17.
20. An estrogen receptor repressor induces cataract formation in transgenic mice. Davis VL, etal., Proc Natl Acad Sci U S A 2002 Jul 9;99(14):9427-32. Epub 2002 Jun 24.
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PMID:26299454   PMID:26299756   PMID:26300005   PMID:26302681   PMID:26318038   PMID:26334217   PMID:26334887   PMID:26344356   PMID:26345870   PMID:26348925   PMID:26370976   PMID:26374855  
PMID:26383254   PMID:26389696   PMID:26393498   PMID:26394816   PMID:26403396   PMID:26406593   PMID:26411678   PMID:26416600   PMID:26424167   PMID:26428028   PMID:26434753   PMID:26434778  
PMID:26456481   PMID:26469385   PMID:26481132   PMID:26484775   PMID:26485345   PMID:26487511   PMID:26488768   PMID:26499945   PMID:26500237   PMID:26503703   PMID:26506594   PMID:26522726  
PMID:26522827   PMID:26529545   PMID:26529820   PMID:26530297   PMID:26535709   PMID:26537585   PMID:26550991   PMID:26556313   PMID:26560360   PMID:26572708   PMID:26575018   PMID:26592768  
PMID:26598706   PMID:26608979   PMID:26620113   PMID:26634548   PMID:26639757   PMID:26640146   PMID:26669013   PMID:26674964   PMID:26676054   PMID:26683811   PMID:26688601   PMID:26695360  
PMID:26700208   PMID:26700933   PMID:26703694   PMID:26723394   PMID:26728277   PMID:26728382   PMID:26733313   PMID:26742628   PMID:26768368   PMID:26790618   PMID:26820652   PMID:26826253  
PMID:26829108   PMID:26835991   PMID:26837465   PMID:26846986   PMID:26849466   PMID:26850117   PMID:26865669   PMID:26871282   PMID:26899418   PMID:26902643   PMID:26906743   PMID:26909605  
PMID:26911590   PMID:26916095   PMID:26928228   PMID:26930261   PMID:26939421   PMID:26944939   PMID:26955855   PMID:26957478   PMID:26960573   PMID:26980709   PMID:26986538   PMID:27003997  
PMID:27005559   PMID:27018308   PMID:27019440   PMID:27020862   PMID:27022068   PMID:27027322   PMID:27035558   PMID:27035664   PMID:27041579   PMID:27049344   PMID:27063095   PMID:27064865  
PMID:27070141   PMID:27090210   PMID:27092883   PMID:27102299   PMID:27107895   PMID:27121069   PMID:27125460   PMID:27129152   PMID:27147578   PMID:27156566   PMID:27163843   PMID:27171834  
PMID:27171902   PMID:27174596   PMID:27174898   PMID:27178332   PMID:27181204   PMID:27193211   PMID:27197110   PMID:27197157   PMID:27222348   PMID:27236187   PMID:27249682   PMID:27250523  
PMID:27259010   PMID:27259243   PMID:27272849   PMID:27273787   PMID:27277384   PMID:27304060   PMID:27312786   PMID:27323034   PMID:27323138   PMID:27323161   PMID:27323688   PMID:27325688  
PMID:27342400   PMID:27348626   PMID:27356714   PMID:27357812   PMID:27373811   PMID:27375289   PMID:27376826   PMID:27380242   PMID:27387650   PMID:27399961   PMID:27400858   PMID:27420286  
PMID:27432265   PMID:27434945   PMID:27448983   PMID:27449292   PMID:27457520   PMID:27466486   PMID:27466487   PMID:27472465   PMID:27479811   PMID:27483141   PMID:27485598   PMID:27491559  
PMID:27498697   PMID:27514658   PMID:27516013   PMID:27519661   PMID:27522322   PMID:27525837   PMID:27525849   PMID:27532364   PMID:27533791   PMID:27542969   PMID:27551012   PMID:27574919  
PMID:27580485   PMID:27593929   PMID:27610593   PMID:27612429   PMID:27620280   PMID:27632388   PMID:27655695   PMID:27664484   PMID:27672107   PMID:27681518   PMID:27690341   PMID:27702735  
PMID:27702820   PMID:27706665   PMID:27706721   PMID:27717337   PMID:27754803   PMID:27759449   PMID:27764788   PMID:27771246   PMID:27778160   PMID:27781410   PMID:27788154   PMID:27791031  
PMID:27801670   PMID:27806114   PMID:27808402   PMID:27823907   PMID:27828688   PMID:27832772   PMID:27838413   PMID:27888136   PMID:27891654   PMID:27893709   PMID:27899088   PMID:27913747  
PMID:27926873   PMID:27927249   PMID:27941878   PMID:27960568   PMID:27964748   PMID:27977889   PMID:27986707   PMID:27992601   PMID:27993577   PMID:27996037   PMID:28006839   PMID:28008602  
PMID:28011460   PMID:28028927   PMID:28043824   PMID:28055379   PMID:28061972   PMID:28065597   PMID:28068668   PMID:28073843   PMID:28076930   PMID:28079144   PMID:28098816   PMID:28106301  
PMID:28109853   PMID:28111258   PMID:28117266   PMID:28118181   PMID:28120435   PMID:28124274   PMID:28137613   PMID:28147335   PMID:28161223   PMID:28167798   PMID:28174265   PMID:28174300  
PMID:28192186   PMID:28199328   PMID:28216037   PMID:28216286   PMID:28223545   PMID:28234966   PMID:28248726   PMID:28266545   PMID:28272969   PMID:28283903   PMID:28301550   PMID:28306507  
PMID:28320353   PMID:28336670   PMID:28351619   PMID:28353585   PMID:28355325   PMID:28359281   PMID:28365834   PMID:28374222   PMID:28383555   PMID:28410957   PMID:28412323   PMID:28414091  
PMID:28419445   PMID:28435071   PMID:28440677   PMID:28445960   PMID:28448182   PMID:28472954   PMID:28473536   PMID:28475868   PMID:28490348   PMID:28492543   PMID:28498399   PMID:28514442  
PMID:28534210   PMID:28535794   PMID:28539237   PMID:28555617   PMID:28570501   PMID:28571686   PMID:28578502   PMID:28595965   PMID:28617822   PMID:28627236   PMID:28634856   PMID:28645612  
PMID:28662179   PMID:28679775   PMID:28700487   PMID:28704214   PMID:28707126   PMID:28708432   PMID:28709040   PMID:28720060   PMID:28751448   PMID:28755608   PMID:28769019   PMID:28790119  
PMID:28799536   PMID:28808806   PMID:28815558   PMID:28821270   PMID:28823012   PMID:28825224   PMID:28831645   PMID:28844863   PMID:28847747   PMID:28849169   PMID:28852946   PMID:28856481  
PMID:28859612   PMID:28864005   PMID:28867253   PMID:28870904   PMID:28870906   PMID:28871951   PMID:28884379   PMID:28887413   PMID:28890035   PMID:28901319   PMID:28905136   PMID:28912152  
PMID:28915724   PMID:28939591   PMID:28947799   PMID:28957356   PMID:28964699   PMID:28972307   PMID:28974548   PMID:28975433   PMID:29020039   PMID:29029116   PMID:29039577   PMID:29048636  
PMID:29063679   PMID:29081408   PMID:29082740   PMID:29085224   PMID:29100376   PMID:29103441   PMID:29146473   PMID:29166868   PMID:29175417   PMID:29187405   PMID:29187427   PMID:29187741  
PMID:29192207   PMID:29219195   PMID:29241914   PMID:29242214   PMID:29246862   PMID:29247596   PMID:29250928   PMID:29253565   PMID:29284708   PMID:29306943   PMID:29331414   PMID:29351904  
PMID:29353824   PMID:29356461   PMID:29367421   PMID:29368272   PMID:29368311   PMID:29370782   PMID:29374092   PMID:29382369   PMID:29383962   PMID:29388081   PMID:29390981   PMID:29409530  
PMID:29414691   PMID:29421333   PMID:29433542   PMID:29438694   PMID:29452237   PMID:29454903   PMID:29458346   PMID:29462880   PMID:29481815   PMID:29509190   PMID:29526366   PMID:29526845  
PMID:29529124   PMID:29531247   PMID:29543921   PMID:29555554   PMID:29568895   PMID:29620287   PMID:29628309   PMID:29629944   PMID:29655286   PMID:29658078   PMID:29664547   PMID:29666928  
PMID:29689710   PMID:29702197   PMID:29702199   PMID:29702977   PMID:29720121   PMID:29720215   PMID:29722068   PMID:29737547   PMID:29745079   PMID:29748621   PMID:29752474   PMID:29755131  
PMID:29758295   PMID:29763890   PMID:29769099   PMID:29769420   PMID:29781507   PMID:29787667   PMID:29796757   PMID:29801469   PMID:29807696   PMID:29880014   PMID:29883973   PMID:29893332  
PMID:29901116   PMID:29916276   PMID:29937544   PMID:29940998   PMID:29945962   PMID:29961922   PMID:29973689   PMID:29974997   PMID:29991699   PMID:29996906   PMID:30049354   PMID:30051594  
PMID:30058584   PMID:30061382   PMID:30069950   PMID:30078824   PMID:30104002   PMID:30113520   PMID:30117066   PMID:30118678   PMID:30121621   PMID:30132221   PMID:30133331   PMID:30145202  
PMID:30156935   PMID:30173322   PMID:30179299   PMID:30181488   PMID:30190324   PMID:30190545   PMID:30191958   PMID:30208353   PMID:30217154   PMID:30222591   PMID:30241506   PMID:30241942  
PMID:30250632   PMID:30257098   PMID:30265334   PMID:30275758   PMID:30277666   PMID:30286806   PMID:30300610   PMID:30301189   PMID:30302736   PMID:30314968   PMID:30315845   PMID:30324876  
PMID:30334368   PMID:30355675   PMID:30358714   PMID:30373552   PMID:30375428   PMID:30396310   PMID:30404658   PMID:30417588   PMID:30418174   PMID:30445651   PMID:30448624   PMID:30455249  
PMID:30457555   PMID:30468784   PMID:30470649   PMID:30496760   PMID:30497079   PMID:30502052   PMID:30502362   PMID:30513371   PMID:30519779   PMID:30534815   PMID:30537990   PMID:30539292  
PMID:30553188   PMID:30555156   PMID:30556843   PMID:30560461   PMID:30563991   PMID:30569100   PMID:30572014   PMID:30573685   PMID:30581045   PMID:30593524   PMID:30597111   PMID:30597961  
PMID:30598260   PMID:30601066   PMID:30611552   PMID:30615907   PMID:30621641   PMID:30630878   PMID:30660702   PMID:30664189   PMID:30677468   PMID:30690641   PMID:30705367   PMID:30706868  
PMID:30715409   PMID:30728052   PMID:30733228   PMID:30736096   PMID:30738766   PMID:30779215   PMID:30787391   PMID:30813351   PMID:30823890   PMID:30826563   PMID:30830488   PMID:30833174  
PMID:30866655   PMID:30867590   PMID:30879772   PMID:30920963   PMID:30953748   PMID:30964885   PMID:30977157   PMID:30995757   PMID:31002359   PMID:31006191   PMID:31012189   PMID:31012223  
PMID:31028794   PMID:31039369   PMID:31062612   PMID:31077012   PMID:31081962   PMID:31090242   PMID:31112577   PMID:31121307   PMID:31140648   PMID:31146345   PMID:31163192   PMID:31171849  
PMID:31184616   PMID:31220507   PMID:31228270   PMID:31229512   PMID:31246104   PMID:31249201   PMID:31270553   PMID:31318440   PMID:31319413   PMID:31322012   PMID:31329371   PMID:31362937  
PMID:31371343   PMID:31372638   PMID:31399483   PMID:31400761   PMID:31409371   PMID:31431634   PMID:31433456   PMID:31466066   PMID:31471681   PMID:31499120   PMID:31501276   PMID:31504407  
PMID:31511014   PMID:31518603   PMID:31527615   PMID:31533892   PMID:31544697   PMID:31545499   PMID:31548345   PMID:31551256   PMID:31562548   PMID:31583246   PMID:31588232   PMID:31590647  
PMID:31646926   PMID:31647985   PMID:31655805   PMID:31683895   PMID:31733575   PMID:31786857   PMID:31805393   PMID:31881246   PMID:31888550   PMID:31894489   PMID:31896759   PMID:31911546  
PMID:31926189   PMID:31945389   PMID:31989654   PMID:31996784   PMID:32007580   PMID:32014063   PMID:32015458   PMID:32026205   PMID:32037484   PMID:32042112   PMID:32046982   PMID:32084593  
PMID:32108645   PMID:32108901   PMID:32109207   PMID:32120995   PMID:32132580   PMID:32142667   PMID:32144005   PMID:32144339   PMID:32159700   PMID:32169631   PMID:32180550   PMID:32206124  
PMID:32210727   PMID:32213542   PMID:32218412   PMID:32232341   PMID:32234755   PMID:32240464   PMID:32242619   PMID:32265480   PMID:32285356   PMID:32316608   PMID:32317515   PMID:32344660  
PMID:32356397   PMID:32359133   PMID:32387340   PMID:32392092   PMID:32408897   PMID:32416979   PMID:32420379   PMID:32435051   PMID:32444257   PMID:32455774   PMID:32455834   PMID:32466779  
PMID:32470784   PMID:32479598   PMID:32493284   PMID:32502618   PMID:32503542   PMID:32513126   PMID:32522343   PMID:32526980   PMID:32542538   PMID:32544536   PMID:32546279   PMID:32546646  
PMID:32556197   PMID:32572901   PMID:32574796   PMID:32579929   PMID:32592004   PMID:32592217   PMID:32593802   PMID:32599554   PMID:32609836   PMID:32632513   PMID:32651892   PMID:32657001  
PMID:32668201   PMID:32679107   PMID:32682401   PMID:32690611   PMID:32724950   PMID:32759446   PMID:32771039   PMID:32777541   PMID:32811219   PMID:32814053   PMID:32827762   PMID:32853964  
PMID:32914729   PMID:32926922   PMID:32929377   PMID:32929565   PMID:32963012   PMID:32973333   PMID:32985343   PMID:33069770   PMID:33092894   PMID:33101543   PMID:33106914   PMID:33112958  
PMID:33122699   PMID:33123289   PMID:33145355   PMID:33146328   PMID:33157125   PMID:33159119   PMID:33163282   PMID:33176961   PMID:33185851   PMID:33189416   PMID:33189851   PMID:33246174  
PMID:33247680   PMID:33260050   PMID:33278557   PMID:33281037   PMID:33301849   PMID:33316142   PMID:33323970   PMID:33348207   PMID:33355368   PMID:33372422   PMID:33420376   PMID:33430254  
PMID:33444783   PMID:33462444   PMID:33540646   PMID:33546391   PMID:33547330   PMID:33577472   PMID:33582945   PMID:33592140   PMID:33593922   PMID:33610536   PMID:33626359   PMID:33626444  
PMID:33631300   PMID:33638154   PMID:33656238   PMID:33658690   PMID:33660790   PMID:33671468   PMID:33710697   PMID:33711637   PMID:33723801   PMID:33731348   PMID:33748055   PMID:33771975  
PMID:33788729   PMID:33799807   PMID:33808990   PMID:33823094   PMID:33861751   PMID:33875787   PMID:33878879   PMID:33893504   PMID:33894309   PMID:33903732   PMID:33937624   PMID:33948784  
PMID:33961781   PMID:33987175   PMID:34006643   PMID:34035221   PMID:34050704   PMID:34057127   PMID:34060989   PMID:34061327   PMID:34062258   PMID:34064195   PMID:34068748   PMID:34094957  
PMID:34131114   PMID:34146645   PMID:34161168   PMID:34190101   PMID:34190995   PMID:34198140   PMID:34225008   PMID:34264479   PMID:34299224   PMID:34322092   PMID:34359829   PMID:34392831  
PMID:34398012   PMID:34414859   PMID:34487732   PMID:34508066   PMID:34518541   PMID:34545128   PMID:34550860   PMID:34559986   PMID:34561764   PMID:34591433   PMID:34591612   PMID:34621045  
PMID:34645792   PMID:34657250   PMID:34671317   PMID:34690921   PMID:34709177   PMID:34711608   PMID:34711683   PMID:34716429   PMID:34743989   PMID:34794738   PMID:34830456   PMID:34831091  
PMID:34845227   PMID:34849446   PMID:34860807   PMID:34906330   PMID:34930150   PMID:34944396   PMID:34952473   PMID:34961764   PMID:35019014   PMID:35020952   PMID:35044086   PMID:35044719  
PMID:35078818   PMID:35121200   PMID:35134944   PMID:35140242   PMID:35143945   PMID:35151276   PMID:35162942   PMID:35175101   PMID:35182276   PMID:35195794   PMID:35217143   PMID:35217640  
PMID:35235104   PMID:35238537   PMID:35285722   PMID:35339126   PMID:35392925   PMID:35394865   PMID:35430604   PMID:35545536   PMID:35593181   PMID:35612673   PMID:35613689   PMID:35618789  
PMID:35623066   PMID:35627124   PMID:35628441   PMID:35666346   PMID:35680375   PMID:35681031   PMID:35718863   PMID:35732909   PMID:35762928   PMID:35786929   PMID:35792284   PMID:35830136  
PMID:35843886   PMID:35872983   PMID:35881485   PMID:35895287   PMID:35930599   PMID:35956385   PMID:36014766   PMID:36058202   PMID:36102649   PMID:36107319   PMID:36109631   PMID:36125660  
PMID:36175246   PMID:36192154   PMID:36198774   PMID:36208382   PMID:36221793   PMID:36252018   PMID:36254093   PMID:36261089   PMID:36262248   PMID:36279628   PMID:36297109   PMID:36326375  
PMID:36336145   PMID:36376959   PMID:36385124   PMID:36423684   PMID:36429038   PMID:36435608   PMID:36436079   PMID:36436502   PMID:36449624   PMID:36460099   PMID:36495498   PMID:36506043  
PMID:36515748   PMID:36565897   PMID:36577884   PMID:36595122   PMID:36595552   PMID:36604313   PMID:36608623   PMID:36661054   PMID:36693877   PMID:36769338   PMID:36789739   PMID:36795405  
PMID:36808875   PMID:36828304   PMID:36831182   PMID:36835157   PMID:36883114   PMID:36884100   PMID:36890612   PMID:36924815   PMID:36930833   PMID:37009655   PMID:37010083   PMID:37012401  
PMID:37081505   PMID:37127079   PMID:37169743   PMID:37176106   PMID:37193881   PMID:37198482   PMID:37199804   PMID:37224961   PMID:37226020   PMID:37239471   PMID:37246005   PMID:37257767  
PMID:37343316   PMID:37396743   PMID:37561982   PMID:37684671   PMID:37740728   PMID:37749332   PMID:37783987   PMID:37784176   PMID:37797425   PMID:37832086   PMID:37854018   PMID:37883178  
PMID:37904149   PMID:37924026   PMID:37952294   PMID:38092129   PMID:38102657   PMID:38114755   PMID:38122900   PMID:38236307   PMID:38281964   PMID:38377146   PMID:38403459   PMID:38615265  


Genomics

Comparative Map Data
ESR1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh386151,656,672 - 152,129,619 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl6151,656,691 - 152,129,619 (+)EnsemblGRCh38hg38GRCh38
GRCh376151,977,807 - 152,450,754 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 366152,170,379 - 152,466,099 (+)NCBINCBI36Build 36hg18NCBI36
Build 346152,220,799 - 152,516,520NCBI
Celera6152,745,469 - 153,158,143 (+)NCBICelera
Cytogenetic Map6q25.1-q25.2NCBI
HuRef6149,573,851 - 149,986,188 (+)NCBIHuRef
CHM1_16152,275,698 - 152,688,511 (+)NCBICHM1_1
T2T-CHM13v2.06152,857,871 - 153,330,911 (+)NCBIT2T-CHM13v2.0
Esr1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39104,561,989 - 4,955,633 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl104,561,593 - 4,955,614 (+)EnsemblGRCm39 Ensembl
GRCm38104,611,989 - 5,005,633 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl104,611,593 - 5,005,614 (+)EnsemblGRCm38mm10GRCm38
MGSCv37105,342,780 - 5,734,495 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36105,342,780 - 5,734,495 (-)NCBIMGSCv36mm8
Celera104,553,702 - 4,949,051 (+)NCBICelera
Cytogenetic Map10A1NCBI
cM Map102.03NCBI
Esr1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8143,511,685 - 43,904,454 (+)NCBIGRCr8
mRatBN7.2141,106,335 - 41,499,104 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl141,210,475 - 41,495,002 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx141,764,020 - 42,022,224 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0147,751,203 - 48,009,419 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0141,839,517 - 42,097,729 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0141,192,029 - 41,594,799 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl141,192,824 - 41,594,796 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0142,534,049 - 42,935,434 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4135,523,680 - 35,759,891 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1135,526,624 - 35,762,826NCBI
Celera136,921,417 - 37,175,762 (+)NCBICelera
Cytogenetic Map1q11NCBI
Esr1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554399,588,201 - 9,963,353 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554399,588,631 - 9,953,606 (-)NCBIChiLan1.0ChiLan1.0
ESR1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v25171,714,055 - 172,130,308 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan16169,722,942 - 170,016,810 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v06149,507,599 - 149,918,523 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.16154,200,521 - 154,635,806 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl6154,317,002 - 154,631,551 (+)Ensemblpanpan1.1panPan2
ESR1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1142,081,952 - 42,368,544 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl142,081,969 - 42,368,544 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha142,923,315 - 43,207,109 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0142,267,417 - 42,551,842 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl142,267,396 - 42,570,184 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1142,140,418 - 42,417,150 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0141,990,600 - 42,280,338 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0142,491,321 - 42,775,607 (+)NCBIUU_Cfam_GSD_1.0
Esr1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404946137,259,082 - 137,635,196 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364894,614,754 - 4,887,171 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364894,616,839 - 4,887,179 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ESR1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl114,217,036 - 14,493,363 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1114,217,032 - 14,604,906 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2116,546,666 - 16,577,163 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ESR1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11379,153,418 - 79,554,552 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1379,270,265 - 79,554,549 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604051,453,078 - 51,888,098 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Esr1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247856,164,379 - 6,601,326 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247856,164,507 - 6,601,302 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ESR1
244 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000125.4(ESR1):c.761-163T>C single nucleotide variant not provided [RCV001537282] Chr6:151944010 [GRCh38]
Chr6:152265145 [GRCh37]
Chr6:6q25.1
likely benign
NM_000125.4(ESR1):c.1339_1340delinsGC (p.Cys447Ala) indel Estrogen receptor mutant, temperature-sensitive [RCV000018058] Chr6:152061094..152061095 [GRCh38]
Chr6:152382229..152382230 [GRCh37]
Chr6:6q25.1
pathogenic|uncertain significance
ESR1, 594G-A single nucleotide variant Migraine with or without aura, susceptibility to [RCV000018059] Chr6:6q25.1 risk factor
NM_000125.4(ESR1):c.469C>T (p.Arg157Ter) single nucleotide variant Estrogen resistance syndrome [RCV000018060] Chr6:151842613 [GRCh38]
Chr6:152163748 [GRCh37]
Chr6:6q25.1
pathogenic
NM_000125.4(ESR1):c.1091T>A (p.Val364Glu) single nucleotide variant Estrogen resistance syndrome [RCV000018061] Chr6:151944503 [GRCh38]
Chr6:152265638 [GRCh37]
Chr6:6q25.1
uncertain significance
NM_000125.4(ESR1):c.453-397T>C single nucleotide variant Myocardial infarction, susceptibility to [RCV000018062] Chr6:151842200 [GRCh38]
Chr6:152163335 [GRCh37]
Chr6:6q25.1
risk factor|drug response
NM_182961.4(SYNE1):c.26372C>A (p.Thr8791Lys) single nucleotide variant Autosomal recessive ataxia, Beauce type [RCV001218142]|not provided [RCV000728961] Chr6:152122458 [GRCh38]
Chr6:152443593 [GRCh37]
Chr6:6q25.2
uncertain significance
NM_001122742.1(ESR1):c.761-21881C>T single nucleotide variant Lung cancer [RCV000096610] Chr6:151922292 [GRCh38]
Chr6:152243427 [GRCh37]
Chr6:6q25.1
uncertain significance
NM_001122742.1(ESR1):c.1096+13419T>C single nucleotide variant Lung cancer [RCV000096611] Chr6:151957927 [GRCh38]
Chr6:152279062 [GRCh37]
Chr6:6q25.1
uncertain significance
NM_001122742.1(ESR1):c.1235+5507G>A single nucleotide variant Lung cancer [RCV000096612] Chr6:152017301 [GRCh38]
Chr6:152338436 [GRCh37]
Chr6:6q25.1
uncertain significance
NM_001122742.1(ESR1):c.1236-764G>C single nucleotide variant Lung cancer [RCV000096613] Chr6:152060227 [GRCh38]
Chr6:152381362 [GRCh37]
Chr6:6q25.1
uncertain significance
GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3 copy number gain See cases [RCV000050604] Chr6:141132990..169339571 [GRCh38]
Chr6:141454127..169739666 [GRCh37]
Chr6:141495820..169481591 [NCBI36]
Chr6:6q24.1-27
pathogenic
NM_000125.4(ESR1):c.1125G>T (p.Gln375His) single nucleotide variant Estrogen resistance syndrome [RCV000054445] Chr6:152011684 [GRCh38]
Chr6:152332819 [GRCh37]
Chr6:6q25.1
pathogenic
GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3 copy number gain See cases [RCV000136826] Chr6:135358150..155455117 [GRCh38]
Chr6:135679288..155776251 [GRCh37]
Chr6:135720981..155817943 [NCBI36]
Chr6:6q23.3-25.3
pathogenic
GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3 copy number gain See cases [RCV000143444] Chr6:133537271..165875545 [GRCh38]
Chr6:133858409..166289033 [GRCh37]
Chr6:133900102..166209023 [NCBI36]
Chr6:6q23.2-27
pathogenic
NM_000125.4(ESR1):c.908A>G (p.Lys303Arg) single nucleotide variant Familial cancer of breast [RCV000190425] Chr6:151944320 [GRCh38]
Chr6:152265455 [GRCh37]
Chr6:6q25.1
risk factor
GRCh37/hg19 6q25.1-27(chr6:151214792-170892243)x3 copy number gain See cases [RCV000449011] Chr6:151214792..170892243 [GRCh37]
Chr6:6q25.1-27
pathogenic
GRCh38/hg38 6q24.2-25.2(chr6:144932561-152985364)x1 copy number loss See cases [RCV000052206] Chr6:144932561..152985364 [GRCh38]
Chr6:145253697..153306499 [GRCh37]
Chr6:145295390..153348192 [NCBI36]
Chr6:6q24.2-25.2
pathogenic
GRCh38/hg38 6q25.1-25.3(chr6:150381239-159553952)x1 copy number loss See cases [RCV000139578] Chr6:150381239..159553952 [GRCh38]
Chr6:150702375..159974984 [GRCh37]
Chr6:150744068..159894974 [NCBI36]
Chr6:6q25.1-25.3
pathogenic
NM_182961.4(SYNE1):c.26372C>T (p.Thr8791Met) single nucleotide variant Autosomal recessive ataxia, Beauce type [RCV000765872]|not provided [RCV000595658] Chr6:152122458 [GRCh38]
Chr6:152443593 [GRCh37]
Chr6:6q25.2
uncertain significance
NM_182961.4(SYNE1):c.26204G>A (p.Arg8735Gln) single nucleotide variant Autosomal recessive ataxia, Beauce type [RCV000351280]|Autosomal recessive ataxia, Beauce type [RCV001521598]|Emery-Dreifuss muscular dystrophy 4, autosomal dominant [RCV000396139]|not specified [RCV000118474] Chr6:152122626 [GRCh38]
Chr6:152443761 [GRCh37]
Chr6:6q25.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_182961.4(SYNE1):c.26221C>A (p.Leu8741Met) single nucleotide variant Autosomal recessive ataxia, Beauce type [RCV000325739]|Autosomal recessive ataxia, Beauce type [RCV001517589]|Emery-Dreifuss muscular dystrophy 4, autosomal dominant [RCV000384879]|not provided [RCV000993177]|not specified [RCV000118476] Chr6:152122609 [GRCh38]
Chr6:152443744 [GRCh37]
Chr6:6q25.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_000125.4(ESR1):c.*296A>G single nucleotide variant not provided [RCV001564386] Chr6:152099262 [GRCh38]
Chr6:152420397 [GRCh37]
Chr6:6q25.1
likely benign
NM_182961.4(SYNE1):c.26345G>A (p.Arg8782Gln) single nucleotide variant Autosomal recessive ataxia, Beauce type [RCV001860177]|not provided [RCV000593912] Chr6:152122485 [GRCh38]
Chr6:152443620 [GRCh37]
Chr6:6q25.2
uncertain significance
NM_000125.4(ESR1):c.-170C>T single nucleotide variant not provided [RCV001544797] Chr6:151807743 [GRCh38]
Chr6:152128878 [GRCh37]
Chr6:6q25.1
likely benign
NM_182961.4(SYNE1):c.*433A>G single nucleotide variant Autosomal recessive ataxia, Beauce type [RCV000291906]|Emery-Dreifuss muscular dystrophy 4, autosomal dominant [RCV000384064] Chr6:152122003 [GRCh38]
Chr6:152443138 [GRCh37]
Chr6:6q25.2
uncertain significance
NM_182961.4(SYNE1):c.26173G>A (p.Asp8725Asn) single nucleotide variant Autosomal recessive ataxia, Beauce type [RCV000647665]|not provided [RCV000275975] Chr6:152122657 [GRCh38]
Chr6:152443792 [GRCh37]
Chr6:6q25.2
uncertain significance
NM_182961.4(SYNE1):c.26301G>A (p.Met8767Ile) single nucleotide variant not provided [RCV000592211] Chr6:152122529 [GRCh38]
Chr6:152443664 [GRCh37]
Chr6:6q25.2
uncertain significance
NM_182961.4(SYNE1):c.26370C>A (p.Tyr8790Ter) single nucleotide variant not provided [RCV000298372] Chr6:152122460 [GRCh38]
Chr6:152443595 [GRCh37]
Chr6:6q25.2
uncertain significance
NM_182961.4(SYNE1):c.26237G>A (p.Arg8746Gln) single nucleotide variant Autosomal recessive ataxia, Beauce type [RCV000803067]|not provided [RCV000591539] Chr6:152122593 [GRCh38]
Chr6:152443728 [GRCh37]
Chr6:6q25.2
uncertain significance
NM_182961.4(SYNE1):c.*95C>T single nucleotide variant Autosomal recessive ataxia, Beauce type [RCV000324712]|Emery-Dreifuss muscular dystrophy 4, autosomal dominant [RCV000264890] Chr6:152122341 [GRCh38]
Chr6:152443476 [GRCh37]
Chr6:6q25.2
benign|likely benign
NM_182961.4(SYNE1):c.*666_*667del deletion Cerebellar ataxia [RCV000311216]|Emery-Dreifuss muscular dystrophy [RCV000368782] Chr6:152121769..152121770 [GRCh38]
Chr6:152442904..152442905 [GRCh37]
Chr6:6q25.2
benign
NM_182961.4(SYNE1):c.*583A>G single nucleotide variant Autosomal recessive ataxia, Beauce type [RCV000262436]|Emery-Dreifuss muscular dystrophy 4, autosomal dominant [RCV000319784] Chr6:152121853 [GRCh38]
Chr6:152442988 [GRCh37]
Chr6:6q25.2
benign
NM_182961.4(SYNE1):c.*101C>T single nucleotide variant Autosomal recessive ataxia, Beauce type [RCV000298138]|Emery-Dreifuss muscular dystrophy 4, autosomal dominant [RCV000359969] Chr6:152122335 [GRCh38]
Chr6:152443470 [GRCh37]
Chr6:6q25.2
likely benign|uncertain significance
NM_182961.4(SYNE1):c.26204G>T (p.Arg8735Leu) single nucleotide variant Autosomal recessive ataxia, Beauce type [RCV000821917]|not provided [RCV000731786] Chr6:152122626 [GRCh38]
Chr6:152443761 [GRCh37]
Chr6:6q25.2
uncertain significance
NM_000125.4(ESR1):c.1601T>A (p.Val534Glu) single nucleotide variant Breast neoplasm [RCV000421187] Chr6:152098779 [GRCh38]
Chr6:152419914 [GRCh37]
Chr6:6q25.1
pathogenic
NM_000125.4(ESR1):c.1604C>A (p.Pro535His) single nucleotide variant Breast neoplasm [RCV000431430] Chr6:152098782 [GRCh38]
Chr6:152419917 [GRCh37]
Chr6:6q25.1
pathogenic
NM_000125.4(ESR1):c.1387T>C (p.Ser463Pro) single nucleotide variant Breast neoplasm [RCV000438802] Chr6:152094402 [GRCh38]
Chr6:152415537 [GRCh37]
Chr6:6q25.1
pathogenic
NM_000125.4(ESR1):c.1138G>C (p.Glu380Gln) single nucleotide variant Breast neoplasm [RCV000439594] Chr6:152011697 [GRCh38]
Chr6:152332832 [GRCh37]
Chr6:6q25.1
likely pathogenic
NM_000125.4(ESR1):c.1607T>G (p.Leu536Arg) single nucleotide variant Breast neoplasm [RCV000443893] Chr6:152098785 [GRCh38]
Chr6:152419920 [GRCh37]
Chr6:6q25.1
pathogenic
GRCh37/hg19 6q24.2-25.1(chr6:144075695-152337005)x1 copy number loss See cases [RCV000448815] Chr6:144075695..152337005 [GRCh37]
Chr6:6q24.2-25.1
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
NM_000125.4(ESR1):c.1181G>A (p.Arg394His) single nucleotide variant Estrogen resistance syndrome [RCV000495838] Chr6:152011740 [GRCh38]
Chr6:152332875 [GRCh37]
Chr6:6q25.1
pathogenic|likely pathogenic
NM_182961.4(SYNE1):c.26298A>G (p.Pro8766=) single nucleotide variant Autosomal recessive ataxia, Beauce type [RCV000379221]|Autosomal recessive ataxia, Beauce type [RCV000875686]|Emery-Dreifuss muscular dystrophy 4, autosomal dominant [RCV000270659]|not provided [RCV003430818]|not specified [RCV000315779] Chr6:152122532 [GRCh38]
Chr6:152443667 [GRCh37]
Chr6:6q25.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_182961.4(SYNE1):c.26330C>G (p.Ser8777Cys) single nucleotide variant Autosomal recessive ataxia, Beauce type [RCV000545766]|Rare genetic intellectual disability [RCV001257021]|not provided [RCV000727476] Chr6:152122500 [GRCh38]
Chr6:152443635 [GRCh37]
Chr6:6q25.2
uncertain significance
NM_182961.4(SYNE1):c.26206T>G (p.Ser8736Ala) single nucleotide variant not provided [RCV000325861] Chr6:152122624 [GRCh38]
Chr6:152443759 [GRCh37]
Chr6:6q25.2
uncertain significance
NM_033071.4(SYNE1):c.*750G>T single nucleotide variant Autosomal recessive ataxia, Beauce type [RCV000401472]|Emery-Dreifuss muscular dystrophy 4, autosomal dominant [RCV000307566] Chr6:152121686 [GRCh38]
Chr6:152442821 [GRCh37]
Chr6:6q25.2
benign
NM_182961.4(SYNE1):c.*515T>C single nucleotide variant Autosomal recessive ataxia, Beauce type [RCV000323155]|Emery-Dreifuss muscular dystrophy 4, autosomal dominant [RCV000380204] Chr6:152121921 [GRCh38]
Chr6:152443056 [GRCh37]
Chr6:6q25.2
uncertain significance
NM_182961.4(SYNE1):c.*103C>A single nucleotide variant Autosomal recessive ataxia, Beauce type [RCV000356387]|Emery-Dreifuss muscular dystrophy 4, autosomal dominant [RCV000259269]|not provided [RCV001718765] Chr6:152122333 [GRCh38]
Chr6:152443468 [GRCh37]
Chr6:6q25.2
benign
NM_182961.4(SYNE1):c.26212C>T (p.Arg8738Cys) single nucleotide variant Autosomal recessive ataxia, Beauce type [RCV000331373]|Autosomal recessive ataxia, Beauce type [RCV001034647]|Emery-Dreifuss muscular dystrophy 4, autosomal dominant [RCV000290592]|not provided [RCV000981644]|not specified [RCV000314603] Chr6:152122618 [GRCh38]
Chr6:152443753 [GRCh37]
Chr6:6q25.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_182961.4(SYNE1):c.*182G>A single nucleotide variant Autosomal recessive ataxia, Beauce type [RCV000299236]|Emery-Dreifuss muscular dystrophy 4, autosomal dominant [RCV000400141]|not provided [RCV001672673] Chr6:152122254 [GRCh38]
Chr6:152443389 [GRCh37]
Chr6:6q25.2
benign
NM_000125.4(ESR1):c.29C>T (p.Ser10Phe) single nucleotide variant not provided [RCV003313662] Chr6:151807941 [GRCh38]
Chr6:152129076 [GRCh37]
Chr6:6q25.1
uncertain significance
NM_182961.4(SYNE1):c.26207C>A (p.Ser8736Tyr) single nucleotide variant Autosomal recessive ataxia, Beauce type [RCV000552449] Chr6:152122623 [GRCh38]
Chr6:152443758 [GRCh37]
Chr6:6q25.2
uncertain significance
NM_182961.4(SYNE1):c.*667del deletion Cerebellar ataxia [RCV000277211]|Emery-Dreifuss muscular dystrophy [RCV000369287] Chr6:152121769 [GRCh38]
Chr6:152442904 [GRCh37]
Chr6:6q25.2
uncertain significance
NM_182961.4(SYNE1):c.*449T>C single nucleotide variant Autosomal recessive ataxia, Beauce type [RCV000341075]|Emery-Dreifuss muscular dystrophy 4, autosomal dominant [RCV000283417] Chr6:152121987 [GRCh38]
Chr6:152443122 [GRCh37]
Chr6:6q25.2
uncertain significance
NM_182961.4(SYNE1):c.26195G>A (p.Gly8732Glu) single nucleotide variant Autosomal recessive ataxia, Beauce type [RCV000647650] Chr6:152122635 [GRCh38]
Chr6:152443770 [GRCh37]
Chr6:6q25.2
uncertain significance
NM_182961.4(SYNE1):c.26373G>A (p.Thr8791=) single nucleotide variant Autosomal recessive ataxia, Beauce type [RCV000647705] Chr6:152122457 [GRCh38]
Chr6:152443592 [GRCh37]
Chr6:6q25.2
likely benign
NC_000006.12:g.(?_152122416)_(153426916_?)del deletion Autosomal recessive ataxia, Beauce type [RCV000647733] Chr6:152122416..153426916 [GRCh38]
Chr6:152443551..153748051 [GRCh37]
Chr6:6q25.2
pathogenic
NM_182961.4(SYNE1):c.26355C>T (p.His8785=) single nucleotide variant not provided [RCV000289631] Chr6:152122475 [GRCh38]
Chr6:152443610 [GRCh37]
Chr6:6q25.2
conflicting interpretations of pathogenicity|uncertain significance
NM_182961.4(SYNE1):c.*191A>G single nucleotide variant Autosomal recessive ataxia, Beauce type [RCV000352747]|Emery-Dreifuss muscular dystrophy 4, autosomal dominant [RCV000314414]|not provided [RCV003430921] Chr6:152122245 [GRCh38]
Chr6:152443380 [GRCh37]
Chr6:6q25.2
benign|likely benign|uncertain significance
46,XX,der(6)(q25.1,q28)dn.seq[GRCh37/hg19]der(6)(6pter->6q25.2(+)(154768571)::q25.2(+)(154778901),q25.2(+)154778992::q25.2(-)(154774048),q25.2(-)(154768571)::q25.2(-)(154768571),q25.1(-)(~151443183-151443483))dn complex Coffin-Siris syndrome 1 [RCV000714957] Chr6:151443333..171115067 [GRCh37]
Chr6:6q25.1-27
pathogenic
NM_000125.4(ESR1):c.*241T>A single nucleotide variant Estrogen resistance syndrome [RCV000714978] Chr6:152099207 [GRCh38]
Chr6:152420342 [GRCh37]
Chr6:6q25.1
risk factor
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6q25.1-27(chr6:150284435-170919470)x3 copy number gain not provided [RCV000746100] Chr6:150284435..170919470 [GRCh37]
Chr6:6q25.1-27
pathogenic
NM_000125.4(ESR1):c.261G>C (p.Ala87=) single nucleotide variant ESR1-related condition [RCV003921198]|not provided [RCV001537458] Chr6:151808173 [GRCh38]
Chr6:152129308 [GRCh37]
Chr6:6q25.1
benign
NM_000125.4(ESR1):c.1638C>T (p.Ala546=) single nucleotide variant not provided [RCV001531650] Chr6:152098816 [GRCh38]
Chr6:152419951 [GRCh37]
Chr6:6q25.1
likely benign
NM_000125.4(ESR1):c.1097-273A>G single nucleotide variant not provided [RCV001609643] Chr6:152011383 [GRCh38]
Chr6:152332518 [GRCh37]
Chr6:6q25.1
benign
NM_000125.4(ESR1):c.1369+123G>A single nucleotide variant not provided [RCV001679666] Chr6:152061247 [GRCh38]
Chr6:152382382 [GRCh37]
Chr6:6q25.1
benign
NM_000125.4(ESR1):c.1097-95A>G single nucleotide variant not provided [RCV001665157] Chr6:152011561 [GRCh38]
Chr6:152332696 [GRCh37]
Chr6:6q25.1
likely benign
NM_000125.4(ESR1):c.453-200G>T single nucleotide variant not provided [RCV001547673] Chr6:151842397 [GRCh38]
Chr6:152163532 [GRCh37]
Chr6:6q25.1
likely benign
NM_000125.4(ESR1):c.1235+255CA[3] microsatellite not provided [RCV001575892] Chr6:152012048..152012049 [GRCh38]
Chr6:152333183..152333184 [GRCh37]
Chr6:6q25.1
likely benign
NM_000125.4(ESR1):c.1369+66A>G single nucleotide variant not provided [RCV001644532] Chr6:152061190 [GRCh38]
Chr6:152382325 [GRCh37]
Chr6:6q25.1
benign
NM_000125.4(ESR1):c.229G>A (p.Gly77Ser) single nucleotide variant not provided [RCV000973693] Chr6:151808141 [GRCh38]
Chr6:152129276 [GRCh37]
Chr6:6q25.1
benign
NM_000125.4(ESR1):c.1032C>T (p.Gly344=) single nucleotide variant not provided [RCV000926678] Chr6:151944444 [GRCh38]
Chr6:152265579 [GRCh37]
Chr6:6q25.1
likely benign
NM_000125.4(ESR1):c.1497G>A (p.Gln499=) single nucleotide variant not provided [RCV000936535] Chr6:152094512 [GRCh38]
Chr6:152415647 [GRCh37]
Chr6:6q25.1
likely benign
NM_000125.4(ESR1):c.729= (p.Arg243=) variation not provided [RCV000949512] Chr6:151880740 [GRCh38]
Chr6:152201875 [GRCh37]
Chr6:6q25.1
benign
NM_000125.4(ESR1):c.975= (p.Pro325=) variation not provided [RCV000946977] Chr6:151944387 [GRCh38]
Chr6:152265522 [GRCh37]
Chr6:6q25.1
benign
NM_000125.4(ESR1):c.454C>G (p.Pro152Ala) single nucleotide variant not provided [RCV000921537] Chr6:151842598 [GRCh38]
Chr6:152163733 [GRCh37]
Chr6:6q25.1
likely benign
NM_000125.4(ESR1):c.315G>T (p.Pro105=) single nucleotide variant not provided [RCV000937341] Chr6:151808227 [GRCh38]
Chr6:152129362 [GRCh37]
Chr6:6q25.1
likely benign
NM_182961.4(SYNE1):c.26154-10C>T single nucleotide variant Autosomal recessive ataxia, Beauce type [RCV003768752] Chr6:152122686 [GRCh38]
Chr6:152443821 [GRCh37]
Chr6:6q25.2
likely benign
NM_000125.4(ESR1):c.936C>T (p.Ala312=) single nucleotide variant not provided [RCV000882002] Chr6:151944348 [GRCh38]
Chr6:152265483 [GRCh37]
Chr6:6q25.1
likely benign
NM_000125.4(ESR1):c.174C>T (p.Ala58=) single nucleotide variant not provided [RCV000920816] Chr6:151808086 [GRCh38]
Chr6:152129221 [GRCh37]
Chr6:6q25.1
benign
NM_000125.4(ESR1):c.478G>T (p.Gly160Cys) single nucleotide variant ESR1-related condition [RCV003918485]|not provided [RCV000972152] Chr6:151842622 [GRCh38]
Chr6:152163757 [GRCh37]
Chr6:6q25.1
likely benign
NM_000125.4(ESR1):c.352T>C (p.Ser118Pro) single nucleotide variant not provided [RCV000973877] Chr6:151808264 [GRCh38]
Chr6:152129399 [GRCh37]
Chr6:6q25.1
benign|likely benign
NM_000125.4(ESR1):c.1137A>C (p.Leu379=) single nucleotide variant not provided [RCV000894552] Chr6:152011696 [GRCh38]
Chr6:152332831 [GRCh37]
Chr6:6q25.1
benign
NM_000125.4(ESR1):c.1674A>G (p.Ala558=) single nucleotide variant not provided [RCV000970149] Chr6:152098852 [GRCh38]
Chr6:152419987 [GRCh37]
Chr6:6q25.1
benign
NM_000125.4(ESR1):c.276C>T (p.Asn92=) single nucleotide variant not provided [RCV000921277] Chr6:151808188 [GRCh38]
Chr6:152129323 [GRCh37]
Chr6:6q25.1
likely benign
NM_000125.4(ESR1):c.1131C>T (p.His377=) single nucleotide variant not provided [RCV000879125] Chr6:152011690 [GRCh38]
Chr6:152332825 [GRCh37]
Chr6:6q25.1
benign
NM_000125.4(ESR1):c.315G>A (p.Pro105=) single nucleotide variant ESR1-related condition [RCV003950414]|not provided [RCV000892909] Chr6:151808227 [GRCh38]
Chr6:152129362 [GRCh37]
Chr6:6q25.1
likely benign
NM_000125.4(ESR1):c.1020T>A (p.Ala340=) single nucleotide variant not provided [RCV000915904] Chr6:151944432 [GRCh38]
Chr6:152265567 [GRCh37]
Chr6:6q25.1
likely benign
NM_182961.4(SYNE1):c.26180C>T (p.Ser8727Phe) single nucleotide variant Autosomal recessive ataxia, Beauce type [RCV000798994] Chr6:152122650 [GRCh38]
Chr6:152443785 [GRCh37]
Chr6:6q25.2
uncertain significance
NC_000006.11:g.(?_152443551)_(152534914_?)dup duplication Autosomal recessive ataxia, Beauce type [RCV000798152] Chr6:152122416..152213779 [GRCh38]
Chr6:152443551..152534914 [GRCh37]
Chr6:6q25.2
uncertain significance
NM_000125.4(ESR1):c.933G>A (p.Thr311=) single nucleotide variant ESR1-related condition [RCV003926176]|not provided [RCV000962185] Chr6:151944345 [GRCh38]
Chr6:152265480 [GRCh37]
Chr6:6q25.1
benign|likely benign
NM_182961.4(SYNE1):c.26177C>T (p.Ser8726Phe) single nucleotide variant Autosomal recessive ataxia, Beauce type [RCV000820210] Chr6:152122653 [GRCh38]
Chr6:152443788 [GRCh37]
Chr6:6q25.2
uncertain significance
NM_000125.4(ESR1):c.1608C>T (p.Leu536=) single nucleotide variant not provided [RCV000919479] Chr6:152098786 [GRCh38]
Chr6:152419921 [GRCh37]
Chr6:6q25.1
likely benign
GRCh37/hg19 6q25.1(chr6:152017744-152031586)x1 copy number loss not provided [RCV000849041] Chr6:152017744..152031586 [GRCh37]
Chr6:6q25.1
uncertain significance
GRCh37/hg19 6q25.1-25.2(chr6:152209421-152645055)x3 copy number gain not provided [RCV000845959] Chr6:152209421..152645055 [GRCh37]
Chr6:6q25.1-25.2
uncertain significance
NM_000125.4(ESR1):c.644-166G>A single nucleotide variant not provided [RCV001551001] Chr6:151880489 [GRCh38]
Chr6:152201624 [GRCh37]
Chr6:6q25.1
likely benign
NM_000125.4(ESR1):c.452+270C>G single nucleotide variant not provided [RCV001551823] Chr6:151808634 [GRCh38]
Chr6:152129769 [GRCh37]
Chr6:6q25.1
likely benign
NM_000125.4(ESR1):c.1554-148C>T single nucleotide variant not provided [RCV001585453] Chr6:152098584 [GRCh38]
Chr6:152419719 [GRCh37]
Chr6:6q25.1
likely benign
NM_001122742.2(ESR1):c.-70-3748_-70-3747insAA insertion not provided [RCV001708750] Chr6:151804095..151804096 [GRCh38]
Chr6:152125230..152125231 [GRCh37]
Chr6:6q25.1
benign
NM_000125.4(ESR1):c.1554-341G>A single nucleotide variant not provided [RCV001639144] Chr6:152098391 [GRCh38]
Chr6:152419526 [GRCh37]
Chr6:6q25.1
benign
NM_000125.4(ESR1):c.644-326T>C single nucleotide variant not provided [RCV001643262] Chr6:151880329 [GRCh38]
Chr6:152201464 [GRCh37]
Chr6:6q25.1
benign
NM_000125.4(ESR1):c.1235+224AC[17] microsatellite not provided [RCV001616703] Chr6:152012017..152012018 [GRCh38]
Chr6:152333152..152333153 [GRCh37]
Chr6:6q25.1
benign
NM_000125.4(ESR1):c.1235+259CT[9] microsatellite not provided [RCV001639917] Chr6:152012053..152012054 [GRCh38]
Chr6:152333188..152333189 [GRCh37]
Chr6:6q25.1
benign
NM_000125.4(ESR1):c.1096+15C>T single nucleotide variant not provided [RCV001557894] Chr6:151944523 [GRCh38]
Chr6:152265658 [GRCh37]
Chr6:6q25.1
likely benign
NM_000125.4(ESR1):c.761-17dup duplication not provided [RCV001650637] Chr6:151944147..151944148 [GRCh38]
Chr6:152265282..152265283 [GRCh37]
Chr6:6q25.1
benign
NM_000125.4(ESR1):c.643+104A>G single nucleotide variant not provided [RCV001588410] Chr6:151842891 [GRCh38]
Chr6:152164026 [GRCh37]
Chr6:6q25.1
likely benign
NM_000125.4(ESR1):c.409A>G (p.Ser137Gly) single nucleotide variant ESR1-related condition [RCV003902882]|not provided [RCV000910639] Chr6:151808321 [GRCh38]
Chr6:152129456 [GRCh37]
Chr6:6q25.1
benign
NM_000125.4(ESR1):c.885G>A (p.Pro295=) single nucleotide variant not provided [RCV000931992] Chr6:151944297 [GRCh38]
Chr6:152265432 [GRCh37]
Chr6:6q25.1
likely benign
NM_000125.4(ESR1):c.1755G>A (p.Thr585=) single nucleotide variant not provided [RCV000886289] Chr6:152098933 [GRCh38]
Chr6:152420068 [GRCh37]
Chr6:6q25.1
likely benign
NM_000125.4(ESR1):c.16C>T (p.His6Tyr) single nucleotide variant ESR1-related condition [RCV003940504]|not provided [RCV000884714] Chr6:151807928 [GRCh38]
Chr6:152129063 [GRCh37]
Chr6:6q25.1
likely benign|conflicting interpretations of pathogenicity
NM_000125.4(ESR1):c.406C>T (p.Pro136Ser) single nucleotide variant not provided [RCV000880408] Chr6:151808318 [GRCh38]
Chr6:152129453 [GRCh37]
Chr6:6q25.1
likely benign
NM_182961.4(SYNE1):c.26196G>T (p.Gly8732=) single nucleotide variant not provided [RCV000943418] Chr6:152122634 [GRCh38]
Chr6:152443769 [GRCh37]
Chr6:6q25.2
likely benign
NM_182961.4(SYNE1):c.*186G>A single nucleotide variant Autosomal recessive ataxia, Beauce type [RCV001156588]|Emery-Dreifuss muscular dystrophy 4, autosomal dominant [RCV001156589] Chr6:152122250 [GRCh38]
Chr6:152443385 [GRCh37]
Chr6:6q25.2
uncertain significance
NM_182961.4(SYNE1):c.26362C>T (p.Leu8788Phe) single nucleotide variant Autosomal recessive ataxia, Beauce type [RCV001069905]|not provided [RCV003142025] Chr6:152122468 [GRCh38]
Chr6:152443603 [GRCh37]
Chr6:6q25.2
uncertain significance
NM_000125.4(ESR1):c.1713G>A (p.Ala571=) single nucleotide variant not provided [RCV000911113] Chr6:152098891 [GRCh38]
Chr6:152420026 [GRCh37]
Chr6:6q25.1
likely benign
NM_182961.4(SYNE1):c.26214C>T (p.Arg8738=) single nucleotide variant Autosomal recessive ataxia, Beauce type [RCV001483330] Chr6:152122616 [GRCh38]
Chr6:152443751 [GRCh37]
Chr6:6q25.2
likely benign
NM_000125.4(ESR1):c.1235+175G>A single nucleotide variant not provided [RCV001657118] Chr6:152011969 [GRCh38]
Chr6:152333104 [GRCh37]
Chr6:6q25.1
benign
NM_000125.4(ESR1):c.760+85G>A single nucleotide variant not provided [RCV001552576] Chr6:151880856 [GRCh38]
Chr6:152201991 [GRCh37]
Chr6:6q25.1
likely benign
NM_000125.4(ESR1):c.760+184G>A single nucleotide variant not provided [RCV001560367] Chr6:151880955 [GRCh38]
Chr6:152202090 [GRCh37]
Chr6:6q25.1
likely benign
NM_000125.4(ESR1):c.896A>G (p.Lys299Arg) single nucleotide variant not provided [RCV001555436] Chr6:151944308 [GRCh38]
Chr6:152265443 [GRCh37]
Chr6:6q25.1
uncertain significance
NM_000125.4(ESR1):c.761-210G>C single nucleotide variant not provided [RCV001576826] Chr6:151943963 [GRCh38]
Chr6:152265098 [GRCh37]
Chr6:6q25.1
likely benign
NM_182961.4(SYNE1):c.26278G>A (p.Gly8760Arg) single nucleotide variant Autosomal recessive ataxia, Beauce type [RCV001066885] Chr6:152122552 [GRCh38]
Chr6:152443687 [GRCh37]
Chr6:6q25.2
uncertain significance
NM_182961.4(SYNE1):c.*281G>A single nucleotide variant not provided [RCV001593800] Chr6:152122155 [GRCh38]
Chr6:152443290 [GRCh37]
Chr6:6q25.2
likely benign
NM_000125.4(ESR1):c.1782G>A (p.Thr594=) single nucleotide variant ESR1-related condition [RCV003975895]|Familial cancer of breast [RCV002506722]|Migraine with or without aura, susceptibility to [RCV001843377]|not provided [RCV001674740] Chr6:152098960 [GRCh38]
Chr6:152420095 [GRCh37]
Chr6:6q25.1
risk factor|benign|likely benign
NM_182961.4(SYNE1):c.26154-249G>A single nucleotide variant not provided [RCV001540422] Chr6:152122925 [GRCh38]
Chr6:152444060 [GRCh37]
Chr6:6q25.2
likely benign
NM_000125.4(ESR1):c.1235+55T>C single nucleotide variant not provided [RCV001676608] Chr6:152011849 [GRCh38]
Chr6:152332984 [GRCh37]
Chr6:6q25.1
benign
NM_000125.4(ESR1):c.1096+16G>A single nucleotide variant not provided [RCV001637887] Chr6:151944524 [GRCh38]
Chr6:152265659 [GRCh37]
Chr6:6q25.1
benign
NM_000125.4(ESR1):c.1235+224AC[20] microsatellite not provided [RCV001637889] Chr6:152012017..152012018 [GRCh38]
Chr6:152333152..152333153 [GRCh37]
Chr6:6q25.1
benign
NM_001122740.2(ESR1):c.-84C>G single nucleotide variant not provided [RCV001715341] Chr6:151807496 [GRCh38]
Chr6:152128631 [GRCh37]
Chr6:6q25.1
benign
NM_182961.4(SYNE1):c.*181C>T single nucleotide variant Autosomal recessive ataxia, Beauce type [RCV001156591]|Emery-Dreifuss muscular dystrophy 4, autosomal dominant [RCV001156590] Chr6:152122255 [GRCh38]
Chr6:152443390 [GRCh37]
Chr6:6q25.2
uncertain significance
NM_000125.4(ESR1):c.1235+259CT[11] microsatellite not provided [RCV001612874] Chr6:152012052..152012053 [GRCh38]
Chr6:152333187..152333188 [GRCh37]
Chr6:6q25.1
benign
NM_000125.4(ESR1):c.1369+135C>G single nucleotide variant not provided [RCV001588585] Chr6:152061259 [GRCh38]
Chr6:152382394 [GRCh37]
Chr6:6q25.1
likely benign
NM_000125.4(ESR1):c.1369+215A>G single nucleotide variant not provided [RCV001585371] Chr6:152061339 [GRCh38]
Chr6:152382474 [GRCh37]
Chr6:6q25.1
likely benign
NM_000125.4(ESR1):c.1554-261T>C single nucleotide variant not provided [RCV001590451] Chr6:152098471 [GRCh38]
Chr6:152419606 [GRCh37]
Chr6:6q25.1
likely benign
NM_001122740.2(ESR1):c.-73A>G single nucleotide variant not provided [RCV001679990] Chr6:151807507 [GRCh38]
Chr6:152128642 [GRCh37]
Chr6:6q25.1
benign
NM_000125.4(ESR1):c.1236-112A>G single nucleotide variant not provided [RCV001714600] Chr6:152060879 [GRCh38]
Chr6:152382014 [GRCh37]
Chr6:6q25.1
benign
NM_000125.4(ESR1):c.1236-128T>C single nucleotide variant not provided [RCV001708805] Chr6:152060863 [GRCh38]
Chr6:152381998 [GRCh37]
Chr6:6q25.1
benign
NM_000125.4(ESR1):c.1097-131del deletion not provided [RCV001692715] Chr6:152011525 [GRCh38]
Chr6:152332660 [GRCh37]
Chr6:6q25.1
benign
NM_000125.4(ESR1):c.1369+161A>G single nucleotide variant not provided [RCV001645044] Chr6:152061285 [GRCh38]
Chr6:152382420 [GRCh37]
Chr6:6q25.1
benign
NM_000125.4(ESR1):c.1235+224AC[16] microsatellite not provided [RCV001650372] Chr6:152012017..152012018 [GRCh38]
Chr6:152333152..152333153 [GRCh37]
Chr6:6q25.1
benign
NM_000125.4(ESR1):c.452+247G>T single nucleotide variant not provided [RCV001612619] Chr6:151808611 [GRCh38]
Chr6:152129746 [GRCh37]
Chr6:6q25.1
benign
NM_182961.4(SYNE1):c.26279G>A (p.Gly8760Glu) single nucleotide variant Autosomal recessive ataxia, Beauce type [RCV001236099]|not provided [RCV003482352] Chr6:152122551 [GRCh38]
Chr6:152443686 [GRCh37]
Chr6:6q25.2
uncertain significance
NM_182961.4(SYNE1):c.*166G>A single nucleotide variant Autosomal recessive ataxia, Beauce type [RCV001156592]|Emery-Dreifuss muscular dystrophy 4, autosomal dominant [RCV001156593] Chr6:152122270 [GRCh38]
Chr6:152443405 [GRCh37]
Chr6:6q25.2
uncertain significance
NM_182961.4(SYNE1):c.*138A>G single nucleotide variant Autosomal recessive ataxia, Beauce type [RCV001152910]|Emery-Dreifuss muscular dystrophy 4, autosomal dominant [RCV001152909] Chr6:152122298 [GRCh38]
Chr6:152443433 [GRCh37]
Chr6:6q25.2
uncertain significance
NM_182961.4(SYNE1):c.*449T>A single nucleotide variant Autosomal recessive ataxia, Beauce type [RCV001154076]|Emery-Dreifuss muscular dystrophy 4, autosomal dominant [RCV001154077] Chr6:152121987 [GRCh38]
Chr6:152443122 [GRCh37]
Chr6:6q25.2
uncertain significance
NM_182961.4(SYNE1):c.*368T>C single nucleotide variant Autosomal recessive ataxia, Beauce type [RCV001154919]|Emery-Dreifuss muscular dystrophy 4, autosomal dominant [RCV001154918] Chr6:152122068 [GRCh38]
Chr6:152443203 [GRCh37]
Chr6:6q25.2
uncertain significance
GRCh37/hg19 6q25.1-25.2(chr6:151472860-154839846)x3 copy number gain not provided [RCV001258753] Chr6:151472860..154839846 [GRCh37]
Chr6:6q25.1-25.2
likely pathogenic
NM_182961.4(SYNE1):c.26375A>G (p.Asn8792Ser) single nucleotide variant Autosomal recessive ataxia, Beauce type [RCV001352132] Chr6:152122455 [GRCh38]
Chr6:152443590 [GRCh37]
Chr6:6q25.2
uncertain significance
NM_182961.4(SYNE1):c.26376T>C (p.Asn8792=) single nucleotide variant Autosomal recessive ataxia, Beauce type [RCV001392027] Chr6:152122454 [GRCh38]
Chr6:152443589 [GRCh37]
Chr6:6q25.2
likely benign
NM_182961.4(SYNE1):c.26154-10C>A single nucleotide variant Autosomal recessive ataxia, Beauce type [RCV001346360] Chr6:152122686 [GRCh38]
Chr6:152443821 [GRCh37]
Chr6:6q25.2
likely benign|uncertain significance
NM_182961.4(SYNE1):c.26154-2590C>G single nucleotide variant Emery-Dreifuss muscular dystrophy 4, autosomal dominant [RCV001335278] Chr6:152125266 [GRCh38]
Chr6:152446401 [GRCh37]
Chr6:6q25.2
uncertain significance
NM_182961.4(SYNE1):c.26215G>A (p.Gly8739Ser) single nucleotide variant Autosomal recessive ataxia, Beauce type [RCV001324972] Chr6:152122615 [GRCh38]
Chr6:152443750 [GRCh37]
Chr6:6q25.2
uncertain significance
NM_000125.4(ESR1):c.296C>A (p.Pro99Gln) single nucleotide variant not provided [RCV001356546] Chr6:151808208 [GRCh38]
Chr6:152129343 [GRCh37]
Chr6:6q25.1
uncertain significance
NM_182961.4(SYNE1):c.26213del (p.Arg8738fs) deletion Autosomal recessive ataxia, Beauce type [RCV001366408]|not provided [RCV003136036] Chr6:152122617 [GRCh38]
Chr6:152443752 [GRCh37]
Chr6:6q25.2
uncertain significance
NM_182961.4(SYNE1):c.26391C>T (p.Leu8797=) single nucleotide variant Autosomal recessive ataxia, Beauce type [RCV001466675] Chr6:152122439 [GRCh38]
Chr6:152443574 [GRCh37]
Chr6:6q25.2
likely benign
NM_182961.4(SYNE1):c.26208C>T (p.Ser8736=) single nucleotide variant Autosomal recessive ataxia, Beauce type [RCV001491388] Chr6:152122622 [GRCh38]
Chr6:152443757 [GRCh37]
Chr6:6q25.2
likely benign
NM_000125.4(ESR1):c.1705G>A (p.Ala569Thr) single nucleotide variant not provided [RCV001445749] Chr6:152098883 [GRCh38]
Chr6:152420018 [GRCh37]
Chr6:6q25.1
likely benign
NM_000125.4(ESR1):c.452+47GGAG[7] microsatellite not provided [RCV001619264] Chr6:151808410..151808411 [GRCh38]
Chr6:152129545..152129546 [GRCh37]
Chr6:6q25.1
benign
NM_000125.4(ESR1):c.30T>C (p.Ser10=) single nucleotide variant Familial cancer of breast [RCV002501993]|not provided [RCV001655332] Chr6:151807942 [GRCh38]
Chr6:152129077 [GRCh37]
Chr6:6q25.1
benign
NM_000125.4(ESR1):c.452+89C>T single nucleotide variant not provided [RCV001670815] Chr6:151808453 [GRCh38]
Chr6:152129588 [GRCh37]
Chr6:6q25.1
benign
NM_000125.4(ESR1):c.760+101T>C single nucleotide variant not provided [RCV001717144] Chr6:151880872 [GRCh38]
Chr6:152202007 [GRCh37]
Chr6:6q25.1
benign
NM_000125.4(ESR1):c.1235+224AC[18] microsatellite not provided [RCV001717422] Chr6:152012017..152012018 [GRCh38]
Chr6:152333152..152333153 [GRCh37]
Chr6:6q25.1
benign
NM_000125.4(ESR1):c.643+63C>T single nucleotide variant not provided [RCV001539045] Chr6:151842850 [GRCh38]
Chr6:152163985 [GRCh37]
Chr6:6q25.1
likely benign
NM_000125.4(ESR1):c.1235+103A>G single nucleotide variant not provided [RCV001590122] Chr6:152011897 [GRCh38]
Chr6:152333032 [GRCh37]
Chr6:6q25.1
likely benign
NM_000125.4(ESR1):c.1369+52G>T single nucleotide variant not provided [RCV001687062] Chr6:152061176 [GRCh38]
Chr6:152382311 [GRCh37]
Chr6:6q25.1
benign
NM_000125.4(ESR1):c.1235+224AC[19] microsatellite not provided [RCV001610020] Chr6:152012017..152012018 [GRCh38]
Chr6:152333152..152333153 [GRCh37]
Chr6:6q25.1
benign
NM_182961.4(SYNE1):c.26266CTC[2] (p.Leu8758del) microsatellite Autosomal recessive ataxia, Beauce type [RCV002045864] Chr6:152122556..152122558 [GRCh38]
Chr6:152443691..152443693 [GRCh37]
Chr6:6q25.2
uncertain significance
NM_182961.4(SYNE1):c.26285C>T (p.Ala8762Val) single nucleotide variant Autosomal recessive ataxia, Beauce type [RCV001936996] Chr6:152122545 [GRCh38]
Chr6:152443680 [GRCh37]
Chr6:6q25.2
uncertain significance
NM_182961.4(SYNE1):c.26210G>T (p.Gly8737Val) single nucleotide variant Autosomal recessive ataxia, Beauce type [RCV001966997]|not provided [RCV003136388] Chr6:152122620 [GRCh38]
Chr6:152443755 [GRCh37]
Chr6:6q25.2
uncertain significance
NM_182961.4(SYNE1):c.26213G>A (p.Arg8738His) single nucleotide variant Autosomal recessive ataxia, Beauce type [RCV001924442]|not provided [RCV003136320] Chr6:152122617 [GRCh38]
Chr6:152443752 [GRCh37]
Chr6:6q25.2
uncertain significance
NM_182961.4(SYNE1):c.26352C>A (p.Phe8784Leu) single nucleotide variant Autosomal recessive ataxia, Beauce type [RCV001933173] Chr6:152122478 [GRCh38]
Chr6:152443613 [GRCh37]
Chr6:6q25.2
uncertain significance
NM_182961.4(SYNE1):c.26241A>G (p.Ala8747=) single nucleotide variant Autosomal recessive ataxia, Beauce type [RCV002187674] Chr6:152122589 [GRCh38]
Chr6:152443724 [GRCh37]
Chr6:6q25.2
likely benign
NM_000125.4(ESR1):c.1235+224AC[22] microsatellite not provided [RCV002244596] Chr6:152012017..152012018 [GRCh38]
Chr6:152333152..152333153 [GRCh37]
Chr6:6q25.1
likely benign
NM_000125.4(ESR1):c.1095A>G (p.Pro365=) single nucleotide variant not provided [RCV002269477] Chr6:151944507 [GRCh38]
Chr6:152265642 [GRCh37]
Chr6:6q25.1
uncertain significance
NM_182961.4(SYNE1):c.26242G>C (p.Ala8748Pro) single nucleotide variant not provided [RCV002475128] Chr6:152122588 [GRCh38]
Chr6:152443723 [GRCh37]
Chr6:6q25.2
uncertain significance
NM_182961.4(SYNE1):c.26158A>T (p.Thr8720Ser) single nucleotide variant not provided [RCV002475165] Chr6:152122672 [GRCh38]
Chr6:152443807 [GRCh37]
Chr6:6q25.2
uncertain significance
NM_182961.4(SYNE1):c.26267T>C (p.Leu8756Pro) single nucleotide variant not provided [RCV002475154] Chr6:152122563 [GRCh38]
Chr6:152443698 [GRCh37]
Chr6:6q25.2
uncertain significance
NM_000125.4(ESR1):c.572A>G (p.Tyr191Cys) single nucleotide variant Inborn genetic diseases [RCV002751771] Chr6:151842716 [GRCh38]
Chr6:152163851 [GRCh37]
Chr6:6q25.1
uncertain significance
NM_182961.4(SYNE1):c.26308G>A (p.Glu8770Lys) single nucleotide variant Autosomal recessive ataxia, Beauce type [RCV002914988] Chr6:152122522 [GRCh38]
Chr6:152443657 [GRCh37]
Chr6:6q25.2
uncertain significance
NM_182961.4(SYNE1):c.26154-9T>C single nucleotide variant Autosomal recessive ataxia, Beauce type [RCV002595562] Chr6:152122685 [GRCh38]
Chr6:152443820 [GRCh37]
Chr6:6q25.2
likely benign
NM_182961.4(SYNE1):c.26154-16T>A single nucleotide variant Autosomal recessive ataxia, Beauce type [RCV002711162] Chr6:152122692 [GRCh38]
Chr6:152443827 [GRCh37]
Chr6:6q25.2
likely benign
NM_000125.4(ESR1):c.269G>A (p.Gly90Asp) single nucleotide variant Inborn genetic diseases [RCV002960649] Chr6:151808181 [GRCh38]
Chr6:152129316 [GRCh37]
Chr6:6q25.1
uncertain significance
NM_000125.4(ESR1):c.296C>T (p.Pro99Leu) single nucleotide variant Inborn genetic diseases [RCV002898380] Chr6:151808208 [GRCh38]
Chr6:152129343 [GRCh37]
Chr6:6q25.1
uncertain significance
NM_182961.4(SYNE1):c.26288G>A (p.Cys8763Tyr) single nucleotide variant not provided [RCV003139029] Chr6:152122542 [GRCh38]
Chr6:152443677 [GRCh37]
Chr6:6q25.2
uncertain significance
NM_182961.4(SYNE1):c.26384C>T (p.Pro8795Leu) single nucleotide variant not provided [RCV003138880] Chr6:152122446 [GRCh38]
Chr6:152443581 [GRCh37]
Chr6:6q25.2
uncertain significance
NM_182961.4(SYNE1):c.26311G>A (p.Asp8771Asn) single nucleotide variant not provided [RCV003138912] Chr6:152122519 [GRCh38]
Chr6:152443654 [GRCh37]
Chr6:6q25.2
uncertain significance
NM_000125.4(ESR1):c.1709C>G (p.Thr570Ser) single nucleotide variant Inborn genetic diseases [RCV003201197] Chr6:152098887 [GRCh38]
Chr6:152420022 [GRCh37]
Chr6:6q25.1
uncertain significance
GRCh38/hg38 6q25.1-25.3(chr6:150905553-158511926)x1 copy number loss Coffin-Siris syndrome 1 [RCV003327723] Chr6:150905553..158511926 [GRCh38]
Chr6:6q25.1-25.3
pathogenic
NM_182961.4(SYNE1):c.26277C>T (p.Ile8759=) single nucleotide variant not provided [RCV003432098] Chr6:152122553 [GRCh38]
Chr6:152443688 [GRCh37]
Chr6:6q25.2
likely benign
NM_000125.4(ESR1):c.720C>T (p.Cys240=) single nucleotide variant Inborn genetic diseases [RCV003352079] Chr6:151880731 [GRCh38]
Chr6:152201866 [GRCh37]
Chr6:6q25.1
likely benign
NM_000125.4(ESR1):c.290T>C (p.Phe97Ser) single nucleotide variant Inborn genetic diseases [RCV003368964] Chr6:151808202 [GRCh38]
Chr6:152129337 [GRCh37]
Chr6:6q25.1
uncertain significance
NM_000125.4(ESR1):c.115C>T (p.Leu39=) single nucleotide variant not provided [RCV003432097] Chr6:151808027 [GRCh38]
Chr6:152129162 [GRCh37]
Chr6:6q25.1
likely benign
NM_182961.4(SYNE1):c.26172C>T (p.Ser8724=) single nucleotide variant Autosomal recessive ataxia, Beauce type [RCV003790237] Chr6:152122658 [GRCh38]
Chr6:152443793 [GRCh37]
Chr6:6q25.2
likely benign
NM_182961.4(SYNE1):c.26325C>G (p.Ala8775=) single nucleotide variant Autosomal recessive ataxia, Beauce type [RCV003794290] Chr6:152122505 [GRCh38]
Chr6:152443640 [GRCh37]
Chr6:6q25.2
likely benign
GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3 copy number gain not specified [RCV003986631] Chr6:119840686..156623091 [GRCh37]
Chr6:6q22.31-25.3
pathogenic
NM_000125.4(ESR1):c.18C>T (p.His6=) single nucleotide variant ESR1-related condition [RCV003906998] Chr6:151807930 [GRCh38]
Chr6:152129065 [GRCh37]
Chr6:6q25.1
likely benign
NM_182961.4(SYNE1):c.26154-2615C>G single nucleotide variant ESR1-related condition [RCV003904638] Chr6:152125291 [GRCh38]
Chr6:152446426 [GRCh37]
Chr6:6q25.2
likely benign
NC_000006.12:g.(?_150381239)_(159553952_?)del deletion Chromosome 6q24-q25 deletion syndrome [RCV003884000] Chr6:150381239..159553952 [GRCh38]
Chr6:6q25.1-25.3
pathogenic
NM_000125.4(ESR1):c.453-9del deletion ESR1-related condition [RCV003963960] Chr6:151842582 [GRCh38]
Chr6:152163717 [GRCh37]
Chr6:6q25.1
benign
NM_182961.4(SYNE1):c.*580del deletion Cerebellar ataxia [RCV000261009]|Emery-Dreifuss muscular dystrophy [RCV000372178] Chr6:152121856 [GRCh38]
Chr6:152442991 [GRCh37]
Chr6:6q25.2
uncertain significance
NM_182961.4(SYNE1):c.*295T>C single nucleotide variant Autosomal recessive ataxia, Beauce type [RCV000394420]|Emery-Dreifuss muscular dystrophy 4, autosomal dominant [RCV000344477] Chr6:152122141 [GRCh38]
Chr6:152443276 [GRCh37]
Chr6:6q25.2
uncertain significance
NM_182961.4(SYNE1):c.26272C>G (p.Leu8758Val) single nucleotide variant not provided [RCV000993178]|not specified [RCV000500060] Chr6:152122558 [GRCh38]
Chr6:152443693 [GRCh37]
Chr6:6q25.2
uncertain significance
NM_182961.4(SYNE1):c.26209G>A (p.Gly8737Ser) single nucleotide variant Autosomal recessive ataxia, Beauce type [RCV000385890]|Autosomal recessive ataxia, Beauce type [RCV000530865]|Emery-Dreifuss muscular dystrophy 4, autosomal dominant [RCV000296333]|not specified [RCV000118475] Chr6:152122621 [GRCh38]
Chr6:152443756 [GRCh37]
Chr6:6q25.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_000125.4(ESR1):c.644-301del deletion not provided [RCV001546289] Chr6:151880347 [GRCh38]
Chr6:152201482 [GRCh37]
Chr6:6q25.1
likely benign
NM_000125.4(ESR1):c.805C>T (p.Arg269Cys) single nucleotide variant not provided [RCV001537348] Chr6:151944217 [GRCh38]
Chr6:152265352 [GRCh37]
Chr6:6q25.1
likely benign
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6q25.1(chr6:152387664-152392561)x0 copy number loss not provided [RCV000746110] Chr6:152387664..152392561 [GRCh37]
Chr6:6q25.1
benign
GRCh37/hg19 6q25.1(chr6:152389968-152392174)x0 copy number loss not provided [RCV000746111] Chr6:152389968..152392174 [GRCh37]
Chr6:6q25.1
benign
GRCh37/hg19 6q25.1(chr6:152389968-152392561)x0 copy number loss not provided [RCV000746112] Chr6:152389968..152392561 [GRCh37]
Chr6:6q25.1
benign
GRCh37/hg19 6q25.1(chr6:152390058-152392174)x0 copy number loss not provided [RCV000746113] Chr6:152390058..152392174 [GRCh37]
Chr6:6q25.1
benign
NM_000125.4(ESR1):c.1728G>A (p.Ser576=) single nucleotide variant not provided [RCV000899022] Chr6:152098906 [GRCh38]
Chr6:152420041 [GRCh37]
Chr6:6q25.1
likely benign
NM_182961.4(SYNE1):c.26236C>T (p.Arg8746Ter) single nucleotide variant Arthrogryposis multiplex congenita 3, myogenic type [RCV000787309] Chr6:152122594 [GRCh38]
Chr6:152443729 [GRCh37]
Chr6:6q25.2
pathogenic
NM_000125.4(ESR1):c.456A>G (p.Pro152=) single nucleotide variant not provided [RCV000898250] Chr6:151842600 [GRCh38]
Chr6:152163735 [GRCh37]
Chr6:6q25.1
likely benign
GRCh37/hg19 6q24.3-25.3(chr6:148195086-160127254)x3 copy number gain not provided [RCV000846496] Chr6:148195086..160127254 [GRCh37]
Chr6:6q24.3-25.3
pathogenic
GRCh37/hg19 6q25.1-25.2(chr6:149431322-154120064)x1 copy number loss not provided [RCV001005856] Chr6:149431322..154120064 [GRCh37]
Chr6:6q25.1-25.2
pathogenic
NM_182961.4(SYNE1):c.26192C>T (p.Pro8731Leu) single nucleotide variant not provided [RCV003138971] Chr6:152122638 [GRCh38]
Chr6:152443773 [GRCh37]
Chr6:6q25.2
uncertain significance
NM_182961.4(SYNE1):c.26344C>G (p.Arg8782Gly) single nucleotide variant not provided [RCV003138981] Chr6:152122486 [GRCh38]
Chr6:152443621 [GRCh37]
Chr6:6q25.2
uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR19Ahsa-miR-19a-3pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI20080637
MIR19Ahsa-miR-19a-3pMirecordsexternal_infoNANA20080637
MIR19Ahsa-miR-19a-3pOncomiRDBexternal_infoNANA20080637
MIR26A1hsa-miR-26a-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI21610700
MIR206hsa-miR-206Mirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blot//Functional MTI17312270
MIR206hsa-miR-206Mirtarbaseexternal_infoLuciferase reporter assay//MicroarrayFunctional MTI19684618
MIR206hsa-miR-206Mirtarbaseexternal_infoLuciferase reporter assayFunctional MTI18593897
MIR206hsa-miR-206Mirtarbaseexternal_infoImmunoblot//Luciferase reporter assay//qRT-PCRNon-Functional MTI19414598
MIR29B1hsa-miR-29b-3pMirtarbaseexternal_infoWestern blotFunctional MTI19706389
MIR206hsa-miR-206Tarbaseexternal_infoqPCRNEGATIVE
MIR26A1hsa-miR-26a-5pOncomiRDBexternal_infoNANA21610700
MIR206hsa-miR-206Mirecordsexternal_info{changed}{changed}NA17312270
MIR206hsa-miR-206Mirecordsexternal_infoNANA19684618
MIR206hsa-miR-206OncomiRDBexternal_infoNANA19684618
MIR206hsa-miR-206OncomiRDBexternal_infoNANA17312270
MIR20Bhsa-miR-20b-5pMirtarbaseexternal_infoWestern blot//qRT-PCR//Luciferase reporter assayFunctional MTI19706389
MIR20Bhsa-miR-20b-3pMirecordsexternal_infoNANA19706389
MIR18Ahsa-miR-18a-5pMirtarbaseexternal_infoWestern blot//qRT-PCR//Luciferase reporter assayFunctional MTI19706389
MIR18Ahsa-miR-18a-5pMirtarbaseexternal_infoLuciferase reporter assay//MicroarrayFunctional MTI19684618
MIR18Ahsa-miR-18a-5pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI20080637
MIR18Ahsa-miR-18a-3pMirecordsexternal_infoNANA20080637
MIRLET7Dhsa-let-7d-5pOncomiRDBexternal_infoNANA20535543
MIRLET7Ehsa-let-7e-5pOncomiRDBexternal_infoNANA20535543
MIRLET7Chsa-let-7c-5pOncomiRDBexternal_infoNANA20535543
MIR19B2hsa-miR-19b-3pMirtarbaseexternal_infoWestern blot//qRT-PCR//Luciferase reporter assayFunctional MTI19706389
MIR19B1hsa-miR-19b-3pMirtarbaseexternal_infoWestern blot//qRT-PCR//Luciferase reporter assayFunctional MTI19706389
MIRLET7Bhsa-let-7b-5pOncomiRDBexternal_infoNANA20535543
MIR18Ahsa-miR-18a-5pOncomiRDBexternal_infoNANA20080637
MIR18Ahsa-miR-18a-5pOncomiRDBexternal_infoNANA19684618
MIR18Ahsa-miR-18a-5pOncomiRDBexternal_infoNANA19027010
MIR335hsa-miR-335-5pOncomiRDBexternal_infoNANA21618216
MIRLET7A2hsa-let-7a-5pOncomiRDBexternal_infoNANA20535543
MIR26A2hsa-miR-26a-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI21610700
MIRLET7F1hsa-let-7f-5pOncomiRDBexternal_infoNANA20535543
MIR18Bhsa-miR-18b-5pMirtarbaseexternal_infoLuciferase reporter assay//MicroarrayFunctional MTI19684618
MIR18Bhsa-miR-18b-5pOncomiRDBexternal_infoNANA19684618
MIR26A2hsa-miR-26a-5pOncomiRDBexternal_infoNANA21610700
MIR145hsa-miR-145-5pOncomiRDBexternal_infoNANA19730444
MIRLET7Ghsa-let-7g-5pOncomiRDBexternal_infoNANA20535543
MIRLET7Ihsa-let-7i-5pOncomiRDBexternal_infoNANA20535543
MIR193Bhsa-miR-193b-3pMirtarbaseexternal_infoLuciferase reporter assay//MicroarrayFunctional MTI19684618
MIR193Bhsa-miR-193b-3pOncomiRDBexternal_infoNANA19684618
MIR193Bhsa-miR-193b-5pMirecordsexternal_infoNANA19684618
MIR22hsa-miR-22-3pMirecordsexternal_info{changed}NA20180843
MIR22hsa-miR-22-3pOncomiRDBexternal_infoNANA20180843
MIR22hsa-miR-22-3pOncomiRDBexternal_infoNANA19414598
MIRLET7A1hsa-let-7a-5pOncomiRDBexternal_infoNANA20535543
MIR29B2hsa-miR-29b-3pMirtarbaseexternal_infoWestern blotFunctional MTI19706389
MIR221hsa-miR-221-5pMirecordsexternal_info{unchanged}NA18790736
MIRLET7F2hsa-let-7f-5pOncomiRDBexternal_infoNANA20535543
MIR222hsa-miR-222-3pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI18790736
MIR222hsa-miR-222-3pMirecordsexternal_info{unchanged}NA18790736
MIR222hsa-miR-222-3pOncomiRDBexternal_infoNANA18790736
MIR130Ahsa-miR-130a-3pMirtarbaseexternal_infoGFP reporter assayFunctional MTI21712254
MIR302Chsa-miR-302c-3pMirtarbaseexternal_infoLuciferase reporter assay//MicroarrayFunctional MTI19684618
MIR22hsa-miR-22-3pMirtarbaseexternal_infoLuciferase reporter assay//Immunoblot//qRT-PCRFunctional MTI19414598
MIR302Chsa-miR-302c-3pMirecordsexternal_infoNANA19684618
MIR302Chsa-miR-302c-3pOncomiRDBexternal_infoNANA19684618
MIR22hsa-miR-22-3pMirecordsexternal_infoNANA18347104
MIR221hsa-miR-221-3pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI18790736
MIR221hsa-miR-221-3pOncomiRDBexternal_infoNANA18790736

Predicted Target Of
Summary Value
Count of predictions:10475
Count of miRNA genes:1465
Interacting mature miRNAs:1995
Transcripts:ENST00000206249, ENST00000338799, ENST00000404742, ENST00000406599, ENST00000415488, ENST00000427531, ENST00000440973, ENST00000443427, ENST00000446550, ENST00000456483, ENST00000473497, ENST00000482101, ENST00000488573
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
D6S440  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376152,333,098 - 152,333,368UniSTSGRCh37
Build 366152,374,791 - 152,375,061RGDNCBI36
Celera6153,066,834 - 153,067,104RGD
Cytogenetic Map6q25.1UniSTS
HuRef6149,894,875 - 149,895,145UniSTS
Marshfield Genetic Map6153.57RGD
Marshfield Genetic Map6153.57UniSTS
Genethon Genetic Map6154.8UniSTS
deCODE Assembly Map6157.77UniSTS
GeneMap99-GB4 RH Map6600.46UniSTS
Whitehead-RH Map6813.3UniSTS
Whitehead-YAC Contig Map6 UniSTS
NCBI RH Map61613.0UniSTS
RH46867  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376152,128,493 - 152,128,627UniSTSGRCh37
Build 366152,170,186 - 152,170,320RGDNCBI36
Celera6152,862,350 - 152,862,484RGD
Cytogenetic Map6q25.1UniSTS
HuRef6149,690,675 - 149,690,809UniSTS
GeneMap99-GB4 RH Map6602.38UniSTS
NCBI RH Map61598.0UniSTS
SHGC-1854  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376152,333,111 - 152,333,221UniSTSGRCh37
Build 366152,374,804 - 152,374,914RGDNCBI36
Celera6153,066,847 - 153,066,957RGD
Cytogenetic Map6q25.1UniSTS
HuRef6149,894,888 - 149,894,998UniSTS
TNG Radiation Hybrid Map673880.0UniSTS
GeneMap99-G3 RH Map66380.0UniSTS
STS-N31971  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376152,087,008 - 152,087,145UniSTSGRCh37
Build 366152,128,701 - 152,128,838RGDNCBI36
Celera6152,820,845 - 152,820,982RGD
Cytogenetic Map6q25.1UniSTS
HuRef6149,649,192 - 149,649,329UniSTS
GeneMap99-GB4 RH Map6600.46UniSTS
NCBI RH Map61613.0UniSTS
D6S1846  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376152,420,145 - 152,420,272UniSTSGRCh37
Build 366152,461,838 - 152,461,965RGDNCBI36
Celera6153,153,878 - 153,154,005RGD
Cytogenetic Map6q25.1UniSTS
HuRef6149,981,923 - 149,982,050UniSTS
GeneMap99-G3 RH Map66380.0UniSTS
AL034435  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376152,367,117 - 152,367,236UniSTSGRCh37
Build 366152,408,810 - 152,408,929RGDNCBI36
Celera6153,100,847 - 153,100,966RGD
Cytogenetic Map6q25.1UniSTS
HuRef6149,928,891 - 149,929,010UniSTS
RH103609  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376152,424,192 - 152,424,343UniSTSGRCh37
Build 366152,465,885 - 152,466,036RGDNCBI36
Celera6153,157,926 - 153,158,077RGD
Cytogenetic Map6q25.1UniSTS
HuRef6149,985,971 - 149,986,122UniSTS
GeneMap99-GB4 RH Map6600.46UniSTS
SHGC-82295  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376152,396,744 - 152,397,070UniSTSGRCh37
Build 366152,438,437 - 152,438,763RGDNCBI36
Celera6153,130,469 - 153,130,795RGD
Cytogenetic Map6q25.1UniSTS
HuRef6149,958,515 - 149,958,841UniSTS
TNG Radiation Hybrid Map673913.0UniSTS
DXS257  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X18,145,521 - 18,145,717UniSTSGRCh37
GRCh37972,408,368 - 72,408,559UniSTSGRCh37
Build 36X18,055,442 - 18,055,638RGDNCBI36
CeleraX22,264,839 - 22,265,035RGD
Celera942,998,738 - 42,998,929UniSTS
HuRef6149,813,797 - 149,814,006UniSTS
HuRefX15,902,954 - 15,903,150UniSTS
HuRef942,247,848 - 42,248,043UniSTS
GDB:181591  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376152,415,500 - 152,415,723UniSTSGRCh37
Build 366152,457,193 - 152,457,416RGDNCBI36
Celera6153,149,233 - 153,149,456RGD
Cytogenetic Map6q25.1UniSTS
HuRef6149,977,278 - 149,977,501UniSTS
GDB:185229  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376152,162,398 - 152,163,771UniSTSGRCh37
Build 366152,204,091 - 152,205,464RGDNCBI36
Celera6152,896,254 - 152,897,627RGD
Cytogenetic Map6q25.1UniSTS
HuRef6149,724,582 - 149,725,955UniSTS
GDB:196364  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376152,127,624 - 152,127,791UniSTSGRCh37
Build 366152,169,317 - 152,169,484RGDNCBI36
Celera6152,861,465 - 152,861,648RGD
Cytogenetic Map6q25.1UniSTS
HuRef6149,689,808 - 149,689,973UniSTS
SHGC-105338  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376152,370,628 - 152,370,959UniSTSGRCh37
Build 366152,412,321 - 152,412,652RGDNCBI36
Celera6153,104,356 - 153,104,687RGD
Cytogenetic Map6q25.1UniSTS
HuRef6149,932,400 - 149,932,731UniSTS
TNG Radiation Hybrid Map673907.0UniSTS
PMC108984P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376152,424,276 - 152,424,381UniSTSGRCh37
Build 366152,465,969 - 152,466,074RGDNCBI36
Celera6153,158,010 - 153,158,115RGD
Cytogenetic Map6q25.1UniSTS
HuRef6149,986,055 - 149,986,160UniSTS
PMC13912P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376152,265,375 - 152,265,460UniSTSGRCh37
Build 366152,307,068 - 152,307,153RGDNCBI36
Celera6152,999,122 - 152,999,207RGD
Cytogenetic Map6q25.1UniSTS
HuRef6149,827,168 - 149,827,253UniSTS
PMC60225P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376152,332,790 - 152,332,876UniSTSGRCh37
Build 366152,374,483 - 152,374,569RGDNCBI36
Celera6153,066,526 - 153,066,612RGD
Cytogenetic Map6q25.1UniSTS
HuRef6149,894,567 - 149,894,653UniSTS
PMC60225P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376152,382,124 - 152,382,201UniSTSGRCh37
Build 366152,423,817 - 152,423,894RGDNCBI36
Celera6153,115,850 - 153,115,927RGD
Cytogenetic Map6q25.1UniSTS
HuRef6149,943,898 - 149,943,975UniSTS
ESR1_43  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376152,423,677 - 152,424,525UniSTSGRCh37
Build 366152,465,370 - 152,466,218RGDNCBI36
Celera6153,157,411 - 153,158,259RGD
HuRef6149,985,456 - 149,986,304UniSTS
ESR1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376152,420,171 - 152,420,240UniSTSGRCh37
Build 366152,461,864 - 152,461,933RGDNCBI36
Celera6153,153,904 - 153,153,973RGD
HuRef6149,981,949 - 149,982,018UniSTS
D6S1313  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376152,105,747 - 152,105,924UniSTSGRCh37
Build 366152,147,440 - 152,147,617RGDNCBI36
Celera6152,839,584 - 152,839,761RGD
Cytogenetic Map6q25.1UniSTS
HuRef6149,667,930 - 149,668,107UniSTS
Whitehead-RH Map6804.9UniSTS
Whitehead-YAC Contig Map6 UniSTS
D6S1315  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376152,115,184 - 152,115,408UniSTSGRCh37
Build 366152,156,877 - 152,157,101RGDNCBI36
Celera6152,849,022 - 152,849,246RGD
Cytogenetic Map6q25.1UniSTS
HuRef6149,677,366 - 149,677,590UniSTS
Whitehead-RH Map6813.3UniSTS
Whitehead-YAC Contig Map6 UniSTS
NCBI RH Map61613.0UniSTS
D11S3014  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2q14.1UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map21q21.2UniSTS
Cytogenetic Map14q32.13UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map12q24.11UniSTS
D11S3026  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q31.1UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map12q21.32UniSTS
Cytogenetic Map14q23.1UniSTS
D11S2766  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2q14.1UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map9q31.1UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map14q32.13UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map5p15.32UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map12q21.32UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map4q26UniSTS
D11S3270  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map20p12.3UniSTS
Cytogenetic Map9q31.1UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic MapXq13.2-q21.1UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map14q23.1UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 1 3 47 8 4 8 1 2 39 506 4 1 1
Low 1220 1765 1535 442 583 348 3497 1226 1414 279 860 1376 101 1198 2286 1
Below cutoff 1104 1214 125 160 1179 95 684 936 2220 110 46 147 69 6 501 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001122740 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001122741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001122742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001291230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001291241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001328100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385572 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006715375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011535543 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011535545 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011535547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011535549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010379 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047418289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047418290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047418291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047418292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047418293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047418294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047418295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047418296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047418297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047418298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047418299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054354472 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054354473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054354474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054354475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054354476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054354477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054354478 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054354479 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054354480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054354481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054354482 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054354483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054354484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054354485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054354486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054354487 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054354488 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054354489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054354490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054354491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054354492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054354493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001743223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB307713 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB588629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB588630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB685814 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB685815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB685816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB685817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB685818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB685819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB685820 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF082876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF120105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF258449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF258450 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF258451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF326912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH008151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ002559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ002560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ002561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ002562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ421639 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL035695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL049821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL078582 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL356311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL590993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX411751 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY425004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY750962 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC128573 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC128574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE084831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX640939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS405710 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA329077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB285906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ163909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF491789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU447161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU921455 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU930361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU982838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU982839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU982840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ011556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ011557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ011558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ011559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ011560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ147552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ147553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ147554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ147555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ147556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ147557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ147558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ169500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ169501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ169502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ169503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ169504 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ668387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ712305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ712306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ712307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ716811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ716812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ716813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ716814 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ716815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ366704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ389792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ411250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ411251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ411252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ411253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ411254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ411255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ411256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ411257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ411258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ438789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ438790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ438791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ438792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ438793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JC604510 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JF810888 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX524780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX524781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX996117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF158419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF225313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF225314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF454881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC120323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC120324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC120325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC120326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC120327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC120328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC120329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC120330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC516420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M12674 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M69297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH588685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK531596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK531597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK531598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK531599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK531600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK531601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK531602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK531603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK531604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK531605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S63345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S79911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S80316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U47678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U68067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U68068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X03635 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X62462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X73067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X74439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X86816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z75126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000206249   ⟹   ENSP00000206249
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6151,807,682 - 152,103,274 (+)Ensembl
RefSeq Acc Id: ENST00000338799   ⟹   ENSP00000342630
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6151,804,431 - 152,099,053 (+)Ensembl
RefSeq Acc Id: ENST00000404742   ⟹   ENSP00000385373
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6151,690,496 - 151,808,166 (+)Ensembl
RefSeq Acc Id: ENST00000406599   ⟹   ENSP00000384064
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6151,807,679 - 152,098,978 (+)Ensembl
RefSeq Acc Id: ENST00000415488   ⟹   ENSP00000401995
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6151,880,657 - 152,061,059 (+)Ensembl
RefSeq Acc Id: ENST00000427531   ⟹   ENSP00000394721
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6151,809,107 - 152,129,619 (+)Ensembl
RefSeq Acc Id: ENST00000440973   ⟹   ENSP00000405330
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6151,690,496 - 152,103,274 (+)Ensembl
RefSeq Acc Id: ENST00000443427   ⟹   ENSP00000387500
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6151,807,319 - 152,103,274 (+)Ensembl
RefSeq Acc Id: ENST00000446550   ⟹   ENSP00000411105
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6151,807,196 - 151,808,259 (+)Ensembl
RefSeq Acc Id: ENST00000456483   ⟹   ENSP00000415934
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6151,807,679 - 152,098,978 (+)Ensembl
RefSeq Acc Id: ENST00000473497
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6151,656,691 - 151,807,857 (+)Ensembl
RefSeq Acc Id: ENST00000482101
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6151,944,172 - 151,984,165 (+)Ensembl
RefSeq Acc Id: ENST00000488573
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6151,808,105 - 151,811,278 (+)Ensembl
RefSeq Acc Id: ENST00000638569   ⟹   ENSP00000491412
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6151,944,208 - 152,094,568 (+)Ensembl
RefSeq Acc Id: ENST00000641399
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6151,936,130 - 152,118,399 (+)Ensembl
RefSeq Acc Id: NM_000125   ⟹   NP_000116
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386151,807,682 - 152,103,274 (+)NCBI
GRCh376152,011,631 - 152,424,409 (+)ENTREZGENE
Build 366152,170,379 - 152,466,099 (+)NCBI Archive
HuRef6149,573,851 - 149,986,188 (+)ENTREZGENE
CHM1_16152,392,912 - 152,688,511 (+)NCBI
T2T-CHM13v2.06153,008,913 - 153,304,582 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001122740   ⟹   NP_001116212
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386151,807,196 - 152,103,274 (+)NCBI
GRCh376152,011,631 - 152,424,409 (+)ENTREZGENE
HuRef6149,573,851 - 149,986,188 (+)ENTREZGENE
CHM1_16152,392,552 - 152,688,511 (+)NCBI
T2T-CHM13v2.06153,008,427 - 153,304,582 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001122741   ⟹   NP_001116213
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386151,805,705 - 152,103,274 (+)NCBI
GRCh376152,011,631 - 152,424,409 (+)ENTREZGENE
HuRef6149,573,851 - 149,986,188 (+)ENTREZGENE
CHM1_16152,390,906 - 152,688,511 (+)NCBI
T2T-CHM13v2.06153,006,926 - 153,304,582 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001122742   ⟹   NP_001116214
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386151,690,527 - 152,103,274 (+)NCBI
GRCh376152,011,631 - 152,424,409 (+)ENTREZGENE
HuRef6149,573,851 - 149,986,188 (+)ENTREZGENE
CHM1_16152,275,698 - 152,688,511 (+)NCBI
T2T-CHM13v2.06152,891,730 - 153,304,582 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001291230   ⟹   NP_001278159
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386151,805,705 - 152,103,274 (+)NCBI
CHM1_16152,390,906 - 152,688,511 (+)NCBI
T2T-CHM13v2.06153,006,926 - 153,304,582 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001291241   ⟹   NP_001278170
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386151,805,705 - 152,103,274 (+)NCBI
CHM1_16152,390,906 - 152,688,511 (+)NCBI
T2T-CHM13v2.06153,006,926 - 153,304,582 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001328100   ⟹   NP_001315029
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386151,809,107 - 152,129,619 (+)NCBI
T2T-CHM13v2.06153,010,338 - 153,330,911 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001385568   ⟹   NP_001372497
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386151,656,672 - 152,103,274 (+)NCBI
T2T-CHM13v2.06152,857,871 - 153,304,582 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001385569   ⟹   NP_001372498
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386151,807,196 - 152,103,274 (+)NCBI
T2T-CHM13v2.06153,008,427 - 153,304,582 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001385570   ⟹   NP_001372499
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386151,690,527 - 152,103,274 (+)NCBI
T2T-CHM13v2.06152,891,730 - 153,304,582 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001385571   ⟹   NP_001372500
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386151,807,196 - 152,103,274 (+)NCBI
T2T-CHM13v2.06153,008,427 - 153,304,582 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001385572   ⟹   NP_001372501
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386151,807,682 - 152,103,274 (+)NCBI
T2T-CHM13v2.06153,008,913 - 153,304,582 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011535543   ⟹   XP_011533845
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386151,690,527 - 152,103,274 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011535545   ⟹   XP_011533847
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386151,791,515 - 152,103,274 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011535547   ⟹   XP_011533849
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386151,690,527 - 152,085,230 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011535549   ⟹   XP_011533851
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386151,933,672 - 152,103,274 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017010377   ⟹   XP_016865866
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386151,656,672 - 152,103,274 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017010378   ⟹   XP_016865867
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386151,690,527 - 152,103,274 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017010379   ⟹   XP_016865868
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386151,696,529 - 152,103,274 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017010380   ⟹   XP_016865869
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386151,656,672 - 152,103,274 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017010381   ⟹   XP_016865870
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386151,805,914 - 152,103,274 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017010383   ⟹   XP_016865872
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386151,936,242 - 152,103,274 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047418289   ⟹   XP_047274245
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386151,807,439 - 152,103,274 (+)NCBI
RefSeq Acc Id: XM_047418290   ⟹   XP_047274246
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386151,656,672 - 152,103,274 (+)NCBI
RefSeq Acc Id: XM_047418291   ⟹   XP_047274247
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386151,805,705 - 152,085,230 (+)NCBI
RefSeq Acc Id: XM_047418292   ⟹   XP_047274248
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386151,807,196 - 152,085,230 (+)NCBI
RefSeq Acc Id: XM_047418293   ⟹   XP_047274249
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386151,807,196 - 152,085,230 (+)NCBI
RefSeq Acc Id: XM_047418294   ⟹   XP_047274250
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386151,807,439 - 152,085,230 (+)NCBI
RefSeq Acc Id: XM_047418295   ⟹   XP_047274251
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386151,690,527 - 152,103,274 (+)NCBI
RefSeq Acc Id: XM_047418296   ⟹   XP_047274252
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386151,807,196 - 152,103,274 (+)NCBI
RefSeq Acc Id: XM_047418297   ⟹   XP_047274253
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386151,690,527 - 152,061,124 (+)NCBI
RefSeq Acc Id: XM_047418298   ⟹   XP_047274254
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386151,807,682 - 152,061,124 (+)NCBI
RefSeq Acc Id: XM_047418299   ⟹   XP_047274255
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386151,807,196 - 152,061,124 (+)NCBI
RefSeq Acc Id: XM_054354472   ⟹   XP_054210447
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06152,889,989 - 153,304,582 (+)NCBI
RefSeq Acc Id: XM_054354473   ⟹   XP_054210448
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06152,857,871 - 153,304,582 (+)NCBI
RefSeq Acc Id: XM_054354474   ⟹   XP_054210449
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06153,008,748 - 153,304,582 (+)NCBI
RefSeq Acc Id: XM_054354475   ⟹   XP_054210450
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06152,891,730 - 153,304,582 (+)NCBI
RefSeq Acc Id: XM_054354476   ⟹   XP_054210451
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06152,857,871 - 153,304,582 (+)NCBI
RefSeq Acc Id: XM_054354477   ⟹   XP_054210452
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06152,857,977 - 153,304,582 (+)NCBI
RefSeq Acc Id: XM_054354478   ⟹   XP_054210453
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06152,897,737 - 153,304,582 (+)NCBI
RefSeq Acc Id: XM_054354479   ⟹   XP_054210454
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06153,007,135 - 153,304,582 (+)NCBI
RefSeq Acc Id: XM_054354480   ⟹   XP_054210455
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06152,992,733 - 153,304,582 (+)NCBI
RefSeq Acc Id: XM_054354481   ⟹   XP_054210456
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06152,891,730 - 153,286,538 (+)NCBI
RefSeq Acc Id: XM_054354482   ⟹   XP_054210457
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06153,008,913 - 153,286,538 (+)NCBI
RefSeq Acc Id: XM_054354483   ⟹   XP_054210458
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06153,006,926 - 153,286,538 (+)NCBI
RefSeq Acc Id: XM_054354484   ⟹   XP_054210459
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06153,008,427 - 153,286,538 (+)NCBI
RefSeq Acc Id: XM_054354485   ⟹   XP_054210460
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06153,008,427 - 153,286,538 (+)NCBI
RefSeq Acc Id: XM_054354486   ⟹   XP_054210461
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06153,008,734 - 153,286,538 (+)NCBI
RefSeq Acc Id: XM_054354487   ⟹   XP_054210462
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06152,889,987 - 153,304,582 (+)NCBI
RefSeq Acc Id: XM_054354488   ⟹   XP_054210463
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06153,008,427 - 153,304,582 (+)NCBI
RefSeq Acc Id: XM_054354489   ⟹   XP_054210464
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06152,891,730 - 153,262,432 (+)NCBI
RefSeq Acc Id: XM_054354490   ⟹   XP_054210465
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06153,008,913 - 153,262,432 (+)NCBI
RefSeq Acc Id: XM_054354491   ⟹   XP_054210466
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06153,008,427 - 153,262,432 (+)NCBI
RefSeq Acc Id: XM_054354492   ⟹   XP_054210467
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06153,134,997 - 153,304,582 (+)NCBI
RefSeq Acc Id: XM_054354493   ⟹   XP_054210468
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06153,137,567 - 153,304,582 (+)NCBI
Protein Sequences
Protein RefSeqs NP_000116 (Get FASTA)   NCBI Sequence Viewer  
  NP_001116212 (Get FASTA)   NCBI Sequence Viewer  
  NP_001116213 (Get FASTA)   NCBI Sequence Viewer  
  NP_001116214 (Get FASTA)   NCBI Sequence Viewer  
  NP_001278159 (Get FASTA)   NCBI Sequence Viewer  
  NP_001278170 (Get FASTA)   NCBI Sequence Viewer  
  NP_001315029 (Get FASTA)   NCBI Sequence Viewer  
  NP_001372497 (Get FASTA)   NCBI Sequence Viewer  
  NP_001372498 (Get FASTA)   NCBI Sequence Viewer  
  NP_001372499 (Get FASTA)   NCBI Sequence Viewer  
  NP_001372500 (Get FASTA)   NCBI Sequence Viewer  
  NP_001372501 (Get FASTA)   NCBI Sequence Viewer  
  XP_011533845 (Get FASTA)   NCBI Sequence Viewer  
  XP_011533847 (Get FASTA)   NCBI Sequence Viewer  
  XP_011533849 (Get FASTA)   NCBI Sequence Viewer  
  XP_011533851 (Get FASTA)   NCBI Sequence Viewer  
  XP_016865866 (Get FASTA)   NCBI Sequence Viewer  
  XP_016865867 (Get FASTA)   NCBI Sequence Viewer  
  XP_016865868 (Get FASTA)   NCBI Sequence Viewer  
  XP_016865869 (Get FASTA)   NCBI Sequence Viewer  
  XP_016865870 (Get FASTA)   NCBI Sequence Viewer  
  XP_016865872 (Get FASTA)   NCBI Sequence Viewer  
  XP_047274245 (Get FASTA)   NCBI Sequence Viewer  
  XP_047274246 (Get FASTA)   NCBI Sequence Viewer  
  XP_047274247 (Get FASTA)   NCBI Sequence Viewer  
  XP_047274248 (Get FASTA)   NCBI Sequence Viewer  
  XP_047274249 (Get FASTA)   NCBI Sequence Viewer  
  XP_047274250 (Get FASTA)   NCBI Sequence Viewer  
  XP_047274251 (Get FASTA)   NCBI Sequence Viewer  
  XP_047274252 (Get FASTA)   NCBI Sequence Viewer  
  XP_047274253 (Get FASTA)   NCBI Sequence Viewer  
  XP_047274254 (Get FASTA)   NCBI Sequence Viewer  
  XP_047274255 (Get FASTA)   NCBI Sequence Viewer  
  XP_054210447 (Get FASTA)   NCBI Sequence Viewer  
  XP_054210448 (Get FASTA)   NCBI Sequence Viewer  
  XP_054210449 (Get FASTA)   NCBI Sequence Viewer  
  XP_054210450 (Get FASTA)   NCBI Sequence Viewer  
  XP_054210451 (Get FASTA)   NCBI Sequence Viewer  
  XP_054210452 (Get FASTA)   NCBI Sequence Viewer  
  XP_054210453 (Get FASTA)   NCBI Sequence Viewer  
  XP_054210454 (Get FASTA)   NCBI Sequence Viewer  
  XP_054210455 (Get FASTA)   NCBI Sequence Viewer  
  XP_054210456 (Get FASTA)   NCBI Sequence Viewer  
  XP_054210457 (Get FASTA)   NCBI Sequence Viewer  
  XP_054210458 (Get FASTA)   NCBI Sequence Viewer  
  XP_054210459 (Get FASTA)   NCBI Sequence Viewer  
  XP_054210460 (Get FASTA)   NCBI Sequence Viewer  
  XP_054210461 (Get FASTA)   NCBI Sequence Viewer  
  XP_054210462 (Get FASTA)   NCBI Sequence Viewer  
  XP_054210463 (Get FASTA)   NCBI Sequence Viewer  
  XP_054210464 (Get FASTA)   NCBI Sequence Viewer  
  XP_054210465 (Get FASTA)   NCBI Sequence Viewer  
  XP_054210466 (Get FASTA)   NCBI Sequence Viewer  
  XP_054210467 (Get FASTA)   NCBI Sequence Viewer  
  XP_054210468 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA52399 (Get FASTA)   NCBI Sequence Viewer  
  AAA58462 (Get FASTA)   NCBI Sequence Viewer  
  AAB00115 (Get FASTA)   NCBI Sequence Viewer  
  AAB21301 (Get FASTA)   NCBI Sequence Viewer  
  AAB35900 (Get FASTA)   NCBI Sequence Viewer  
  AAC51874 (Get FASTA)   NCBI Sequence Viewer  
  AAC51875 (Get FASTA)   NCBI Sequence Viewer  
  AAD23565 (Get FASTA)   NCBI Sequence Viewer  
  AAD52984 (Get FASTA)   NCBI Sequence Viewer  
  AAG41358 (Get FASTA)   NCBI Sequence Viewer  
  AAG41359 (Get FASTA)   NCBI Sequence Viewer  
  AAG41360 (Get FASTA)   NCBI Sequence Viewer  
  AAG42501 (Get FASTA)   NCBI Sequence Viewer  
  AAI28574 (Get FASTA)   NCBI Sequence Viewer  
  AAI28575 (Get FASTA)   NCBI Sequence Viewer  
  AAQ91815 (Get FASTA)   NCBI Sequence Viewer  
  AAW69860 (Get FASTA)   NCBI Sequence Viewer  
  ABA41493 (Get FASTA)   NCBI Sequence Viewer  
  ACH41916 (Get FASTA)   NCBI Sequence Viewer  
  ACH61905 (Get FASTA)   NCBI Sequence Viewer  
  ACH73261 (Get FASTA)   NCBI Sequence Viewer  
  ACH73262 (Get FASTA)   NCBI Sequence Viewer  
  ACH73263 (Get FASTA)   NCBI Sequence Viewer  
  ACI01724 (Get FASTA)   NCBI Sequence Viewer  
  ACI01725 (Get FASTA)   NCBI Sequence Viewer  
  ACI01726 (Get FASTA)   NCBI Sequence Viewer  
  ACI01727 (Get FASTA)   NCBI Sequence Viewer  
  ACI01728 (Get FASTA)   NCBI Sequence Viewer  
  ACI01729 (Get FASTA)   NCBI Sequence Viewer  
  ACI01730 (Get FASTA)   NCBI Sequence Viewer  
  ACI04255 (Get FASTA)   NCBI Sequence Viewer  
  ACI04256 (Get FASTA)   NCBI Sequence Viewer  
  ACI04257 (Get FASTA)   NCBI Sequence Viewer  
  ACI04258 (Get FASTA)   NCBI Sequence Viewer  
  ACI04259 (Get FASTA)   NCBI Sequence Viewer  
  ACI06210 (Get FASTA)   NCBI Sequence Viewer  
  ACI06211 (Get FASTA)   NCBI Sequence Viewer  
  ACI06212 (Get FASTA)   NCBI Sequence Viewer  
  ACI06213 (Get FASTA)   NCBI Sequence Viewer  
  ACI06214 (Get FASTA)   NCBI Sequence Viewer  
  ACN41854 (Get FASTA)   NCBI Sequence Viewer  
  ACN66633 (Get FASTA)   NCBI Sequence Viewer  
  ACN66634 (Get FASTA)   NCBI Sequence Viewer  
  ACN66635 (Get FASTA)   NCBI Sequence Viewer  
  ACN89822 (Get FASTA)   NCBI Sequence Viewer  
  ACN89823 (Get FASTA)   NCBI Sequence Viewer  
  ACN89824 (Get FASTA)   NCBI Sequence Viewer  
  ACN89825 (Get FASTA)   NCBI Sequence Viewer  
  ACN89826 (Get FASTA)   NCBI Sequence Viewer  
  ACU29456 (Get FASTA)   NCBI Sequence Viewer  
  ACV04432 (Get FASTA)   NCBI Sequence Viewer  
  ACV41785 (Get FASTA)   NCBI Sequence Viewer  
  ACV41786 (Get FASTA)   NCBI Sequence Viewer  
  ACV41787 (Get FASTA)   NCBI Sequence Viewer  
  ACV41788 (Get FASTA)   NCBI Sequence Viewer  
  ACV41789 (Get FASTA)   NCBI Sequence Viewer  
  ACV41790 (Get FASTA)   NCBI Sequence Viewer  
  ACV41791 (Get FASTA)   NCBI Sequence Viewer  
  ACV41792 (Get FASTA)   NCBI Sequence Viewer  
  ACV41793 (Get FASTA)   NCBI Sequence Viewer  
  ACV88147 (Get FASTA)   NCBI Sequence Viewer  
  ACV88148 (Get FASTA)   NCBI Sequence Viewer  
  ACV88149 (Get FASTA)   NCBI Sequence Viewer  
  ACV88150 (Get FASTA)   NCBI Sequence Viewer  
  ACV88151 (Get FASTA)   NCBI Sequence Viewer  
  AEP43755 (Get FASTA)   NCBI Sequence Viewer  
  AFV77693 (Get FASTA)   NCBI Sequence Viewer  
  AFV77694 (Get FASTA)   NCBI Sequence Viewer  
  AGC74339 (Get FASTA)   NCBI Sequence Viewer  
  AYK03315 (Get FASTA)   NCBI Sequence Viewer  
  BAF85708 (Get FASTA)   NCBI Sequence Viewer  
  BAG65386 (Get FASTA)   NCBI Sequence Viewer  
  BAG65577 (Get FASTA)   NCBI Sequence Viewer  
  BAH02304 (Get FASTA)   NCBI Sequence Viewer  
  BAJ41265 (Get FASTA)   NCBI Sequence Viewer  
  BAJ41266 (Get FASTA)   NCBI Sequence Viewer  
  BAM62930 (Get FASTA)   NCBI Sequence Viewer  
  BAM62931 (Get FASTA)   NCBI Sequence Viewer  
  BAM62932 (Get FASTA)   NCBI Sequence Viewer  
  BAM62933 (Get FASTA)   NCBI Sequence Viewer  
  BAM62934 (Get FASTA)   NCBI Sequence Viewer  
  BAM62935 (Get FASTA)   NCBI Sequence Viewer  
  BAM62936 (Get FASTA)   NCBI Sequence Viewer  
  BAU46546 (Get FASTA)   NCBI Sequence Viewer  
  BAU46547 (Get FASTA)   NCBI Sequence Viewer  
  BAU46548 (Get FASTA)   NCBI Sequence Viewer  
  BAU46549 (Get FASTA)   NCBI Sequence Viewer  
  BAU46550 (Get FASTA)   NCBI Sequence Viewer  
  BAU46551 (Get FASTA)   NCBI Sequence Viewer  
  BAU46552 (Get FASTA)   NCBI Sequence Viewer  
  BAU46553 (Get FASTA)   NCBI Sequence Viewer  
  BBU25300 (Get FASTA)   NCBI Sequence Viewer  
  CAA05557 (Get FASTA)   NCBI Sequence Viewer  
  CAA05558 (Get FASTA)   NCBI Sequence Viewer  
  CAA05559 (Get FASTA)   NCBI Sequence Viewer  
  CAA05560 (Get FASTA)   NCBI Sequence Viewer  
  CAA27284 (Get FASTA)   NCBI Sequence Viewer  
  CAA44322 (Get FASTA)   NCBI Sequence Viewer  
  CAA51528 (Get FASTA)   NCBI Sequence Viewer  
  CAA99436 (Get FASTA)   NCBI Sequence Viewer  
  CAD35258 (Get FASTA)   NCBI Sequence Viewer  
  CAD97416 (Get FASTA)   NCBI Sequence Viewer  
  CAE45969 (Get FASTA)   NCBI Sequence Viewer  
  CAL40514 (Get FASTA)   NCBI Sequence Viewer  
  CEF39418 (Get FASTA)   NCBI Sequence Viewer  
  EAW47740 (Get FASTA)   NCBI Sequence Viewer  
  EAW47741 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000206249
  ENSP00000206249.3
  ENSP00000342630
  ENSP00000342630.5
  ENSP00000384064.1
  ENSP00000385373.1
  ENSP00000387500
  ENSP00000387500.1
  ENSP00000394721
  ENSP00000394721.2
  ENSP00000401995.1
  ENSP00000405330
  ENSP00000405330.1
  ENSP00000411105.1
  ENSP00000415934.3
GenBank Protein P03372 (Get FASTA)   NCBI Sequence Viewer  
  QCI62370 (Get FASTA)   NCBI Sequence Viewer  
  QCI62371 (Get FASTA)   NCBI Sequence Viewer  
  QCI62372 (Get FASTA)   NCBI Sequence Viewer  
  QCI62373 (Get FASTA)   NCBI Sequence Viewer  
  QCI62374 (Get FASTA)   NCBI Sequence Viewer  
  QCI62375 (Get FASTA)   NCBI Sequence Viewer  
  QCI62376 (Get FASTA)   NCBI Sequence Viewer  
  QCI62377 (Get FASTA)   NCBI Sequence Viewer  
  QCI62378 (Get FASTA)   NCBI Sequence Viewer  
  QCI62379 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001116214   ⟸   NM_001122742
- Peptide Label: isoform 1
- UniProtKB: Q9UDZ7 (UniProtKB/Swiss-Prot),   Q9NU51 (UniProtKB/Swiss-Prot),   Q6MZQ9 (UniProtKB/Swiss-Prot),   Q5T5H7 (UniProtKB/Swiss-Prot),   Q14276 (UniProtKB/Swiss-Prot),   Q13511 (UniProtKB/Swiss-Prot),   Q9UIS7 (UniProtKB/Swiss-Prot),   P03372 (UniProtKB/Swiss-Prot),   G4XH65 (UniProtKB/TrEMBL),   B6ZGU3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001116213   ⟸   NM_001122741
- Peptide Label: isoform 1
- UniProtKB: Q9UDZ7 (UniProtKB/Swiss-Prot),   Q9NU51 (UniProtKB/Swiss-Prot),   Q6MZQ9 (UniProtKB/Swiss-Prot),   Q5T5H7 (UniProtKB/Swiss-Prot),   Q14276 (UniProtKB/Swiss-Prot),   Q13511 (UniProtKB/Swiss-Prot),   Q9UIS7 (UniProtKB/Swiss-Prot),   P03372 (UniProtKB/Swiss-Prot),   G4XH65 (UniProtKB/TrEMBL),   B6ZGU3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001116212   ⟸   NM_001122740
- Peptide Label: isoform 1
- UniProtKB: Q9UDZ7 (UniProtKB/Swiss-Prot),   Q9NU51 (UniProtKB/Swiss-Prot),   Q6MZQ9 (UniProtKB/Swiss-Prot),   Q5T5H7 (UniProtKB/Swiss-Prot),   Q14276 (UniProtKB/Swiss-Prot),   Q13511 (UniProtKB/Swiss-Prot),   Q9UIS7 (UniProtKB/Swiss-Prot),   P03372 (UniProtKB/Swiss-Prot),   G4XH65 (UniProtKB/TrEMBL),   B6ZGU3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_000116   ⟸   NM_000125
- Peptide Label: isoform 1
- UniProtKB: Q9UDZ7 (UniProtKB/Swiss-Prot),   Q9NU51 (UniProtKB/Swiss-Prot),   Q6MZQ9 (UniProtKB/Swiss-Prot),   Q5T5H7 (UniProtKB/Swiss-Prot),   Q14276 (UniProtKB/Swiss-Prot),   Q13511 (UniProtKB/Swiss-Prot),   Q9UIS7 (UniProtKB/Swiss-Prot),   P03372 (UniProtKB/Swiss-Prot),   G4XH65 (UniProtKB/TrEMBL),   B6ZGU3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001278159   ⟸   NM_001291230
- Peptide Label: isoform 2
- UniProtKB: B6ZGU3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001278170   ⟸   NM_001291241
- Peptide Label: isoform 3
- UniProtKB: A8KAF4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011533845   ⟸   XM_011535543
- Peptide Label: isoform X1
- UniProtKB: Q9UDZ7 (UniProtKB/Swiss-Prot),   Q9NU51 (UniProtKB/Swiss-Prot),   Q6MZQ9 (UniProtKB/Swiss-Prot),   Q5T5H7 (UniProtKB/Swiss-Prot),   Q14276 (UniProtKB/Swiss-Prot),   Q13511 (UniProtKB/Swiss-Prot),   Q9UIS7 (UniProtKB/Swiss-Prot),   P03372 (UniProtKB/Swiss-Prot),   G4XH65 (UniProtKB/TrEMBL),   B6ZGU3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011533849   ⟸   XM_011535547
- Peptide Label: isoform X2
- UniProtKB: A0A125SXW3 (UniProtKB/TrEMBL),   A0A125SXW2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011533847   ⟸   XM_011535545
- Peptide Label: isoform X1
- UniProtKB: Q9UDZ7 (UniProtKB/Swiss-Prot),   Q9NU51 (UniProtKB/Swiss-Prot),   Q6MZQ9 (UniProtKB/Swiss-Prot),   Q5T5H7 (UniProtKB/Swiss-Prot),   Q14276 (UniProtKB/Swiss-Prot),   Q13511 (UniProtKB/Swiss-Prot),   Q9UIS7 (UniProtKB/Swiss-Prot),   P03372 (UniProtKB/Swiss-Prot),   G4XH65 (UniProtKB/TrEMBL),   B6ZGU3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011533851   ⟸   XM_011535549
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016865866   ⟸   XM_017010377
- Peptide Label: isoform X1
- UniProtKB: Q9UDZ7 (UniProtKB/Swiss-Prot),   Q9NU51 (UniProtKB/Swiss-Prot),   Q6MZQ9 (UniProtKB/Swiss-Prot),   Q5T5H7 (UniProtKB/Swiss-Prot),   Q14276 (UniProtKB/Swiss-Prot),   Q13511 (UniProtKB/Swiss-Prot),   Q9UIS7 (UniProtKB/Swiss-Prot),   P03372 (UniProtKB/Swiss-Prot),   G4XH65 (UniProtKB/TrEMBL),   B6ZGU3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016865869   ⟸   XM_017010380
- Peptide Label: isoform X1
- UniProtKB: Q9UDZ7 (UniProtKB/Swiss-Prot),   Q9NU51 (UniProtKB/Swiss-Prot),   Q6MZQ9 (UniProtKB/Swiss-Prot),   Q5T5H7 (UniProtKB/Swiss-Prot),   Q14276 (UniProtKB/Swiss-Prot),   Q13511 (UniProtKB/Swiss-Prot),   Q9UIS7 (UniProtKB/Swiss-Prot),   P03372 (UniProtKB/Swiss-Prot),   G4XH65 (UniProtKB/TrEMBL),   B6ZGU3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016865867   ⟸   XM_017010378
- Peptide Label: isoform X1
- UniProtKB: Q9UDZ7 (UniProtKB/Swiss-Prot),   Q9NU51 (UniProtKB/Swiss-Prot),   Q6MZQ9 (UniProtKB/Swiss-Prot),   Q5T5H7 (UniProtKB/Swiss-Prot),   Q14276 (UniProtKB/Swiss-Prot),   Q13511 (UniProtKB/Swiss-Prot),   Q9UIS7 (UniProtKB/Swiss-Prot),   P03372 (UniProtKB/Swiss-Prot),   G4XH65 (UniProtKB/TrEMBL),   B6ZGU3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016865868   ⟸   XM_017010379
- Peptide Label: isoform X1
- UniProtKB: Q9UDZ7 (UniProtKB/Swiss-Prot),   Q9NU51 (UniProtKB/Swiss-Prot),   Q6MZQ9 (UniProtKB/Swiss-Prot),   Q5T5H7 (UniProtKB/Swiss-Prot),   Q14276 (UniProtKB/Swiss-Prot),   Q13511 (UniProtKB/Swiss-Prot),   Q9UIS7 (UniProtKB/Swiss-Prot),   P03372 (UniProtKB/Swiss-Prot),   G4XH65 (UniProtKB/TrEMBL),   B6ZGU3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016865870   ⟸   XM_017010381
- Peptide Label: isoform X1
- UniProtKB: Q9UDZ7 (UniProtKB/Swiss-Prot),   Q9NU51 (UniProtKB/Swiss-Prot),   Q6MZQ9 (UniProtKB/Swiss-Prot),   Q5T5H7 (UniProtKB/Swiss-Prot),   Q14276 (UniProtKB/Swiss-Prot),   Q13511 (UniProtKB/Swiss-Prot),   Q9UIS7 (UniProtKB/Swiss-Prot),   P03372 (UniProtKB/Swiss-Prot),   G4XH65 (UniProtKB/TrEMBL),   B6ZGU3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016865872   ⟸   XM_017010383
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: NP_001315029   ⟸   NM_001328100
- Peptide Label: isoform 4
- UniProtKB: H0Y4W6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000394721   ⟸   ENST00000427531
RefSeq Acc Id: ENSP00000491412   ⟸   ENST00000638569
RefSeq Acc Id: ENSP00000401995   ⟸   ENST00000415488
RefSeq Acc Id: ENSP00000405330   ⟸   ENST00000440973
RefSeq Acc Id: ENSP00000342630   ⟸   ENST00000338799
RefSeq Acc Id: ENSP00000415934   ⟸   ENST00000456483
RefSeq Acc Id: ENSP00000206249   ⟸   ENST00000206249
RefSeq Acc Id: ENSP00000385373   ⟸   ENST00000404742
RefSeq Acc Id: ENSP00000387500   ⟸   ENST00000443427
RefSeq Acc Id: ENSP00000384064   ⟸   ENST00000406599
RefSeq Acc Id: ENSP00000411105   ⟸   ENST00000446550
RefSeq Acc Id: NP_001372497   ⟸   NM_001385568
- Peptide Label: isoform 1
- UniProtKB: Q9UDZ7 (UniProtKB/Swiss-Prot),   Q9NU51 (UniProtKB/Swiss-Prot),   Q6MZQ9 (UniProtKB/Swiss-Prot),   Q5T5H7 (UniProtKB/Swiss-Prot),   Q14276 (UniProtKB/Swiss-Prot),   Q13511 (UniProtKB/Swiss-Prot),   P03372 (UniProtKB/Swiss-Prot),   Q9UIS7 (UniProtKB/Swiss-Prot),   G4XH65 (UniProtKB/TrEMBL),   B6ZGU3 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001372499   ⟸   NM_001385570
- Peptide Label: isoform 5
- UniProtKB: A0A125SXW2 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001372498   ⟸   NM_001385569
- Peptide Label: isoform 1
- UniProtKB: Q9UDZ7 (UniProtKB/Swiss-Prot),   Q9NU51 (UniProtKB/Swiss-Prot),   Q6MZQ9 (UniProtKB/Swiss-Prot),   Q5T5H7 (UniProtKB/Swiss-Prot),   Q14276 (UniProtKB/Swiss-Prot),   Q13511 (UniProtKB/Swiss-Prot),   P03372 (UniProtKB/Swiss-Prot),   Q9UIS7 (UniProtKB/Swiss-Prot),   G4XH65 (UniProtKB/TrEMBL),   B6ZGU3 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001372500   ⟸   NM_001385571
- Peptide Label: isoform 5
- UniProtKB: A0A125SXW2 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001372501   ⟸   NM_001385572
- Peptide Label: isoform 5
- UniProtKB: A0A125SXW2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047274246   ⟸   XM_047418290
- Peptide Label: isoform X1
- UniProtKB: Q9NU51 (UniProtKB/Swiss-Prot),   Q9UDZ7 (UniProtKB/Swiss-Prot),   Q6MZQ9 (UniProtKB/Swiss-Prot),   Q5T5H7 (UniProtKB/Swiss-Prot),   Q14276 (UniProtKB/Swiss-Prot),   Q13511 (UniProtKB/Swiss-Prot),   P03372 (UniProtKB/Swiss-Prot),   Q9UIS7 (UniProtKB/Swiss-Prot),   G4XH65 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047274251   ⟸   XM_047418295
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047274253   ⟸   XM_047418297
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047274247   ⟸   XM_047418291
- Peptide Label: isoform X2
- UniProtKB: A0A125SXW3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047274252   ⟸   XM_047418296
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047274248   ⟸   XM_047418292
- Peptide Label: isoform X2
- UniProtKB: A0A125SXW3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047274249   ⟸   XM_047418293
- Peptide Label: isoform X2
- UniProtKB: A0A125SXW3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047274255   ⟸   XM_047418299
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047274245   ⟸   XM_047418289
- Peptide Label: isoform X1
- UniProtKB: Q9UDZ7 (UniProtKB/Swiss-Prot),   Q9NU51 (UniProtKB/Swiss-Prot),   Q6MZQ9 (UniProtKB/Swiss-Prot),   Q5T5H7 (UniProtKB/Swiss-Prot),   Q14276 (UniProtKB/Swiss-Prot),   Q13511 (UniProtKB/Swiss-Prot),   P03372 (UniProtKB/Swiss-Prot),   Q9UIS7 (UniProtKB/Swiss-Prot),   G4XH65 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047274250   ⟸   XM_047418294
- Peptide Label: isoform X2
- UniProtKB: A0A125SXW3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047274254   ⟸   XM_047418298
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054210448   ⟸   XM_054354473
- Peptide Label: isoform X1
- UniProtKB: Q9UIS7 (UniProtKB/Swiss-Prot),   Q9UDZ7 (UniProtKB/Swiss-Prot),   Q9NU51 (UniProtKB/Swiss-Prot),   Q6MZQ9 (UniProtKB/Swiss-Prot),   Q5T5H7 (UniProtKB/Swiss-Prot),   Q14276 (UniProtKB/Swiss-Prot),   Q13511 (UniProtKB/Swiss-Prot),   P03372 (UniProtKB/Swiss-Prot),   G4XH65 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054210451   ⟸   XM_054354476
- Peptide Label: isoform X1
- UniProtKB: Q9UIS7 (UniProtKB/Swiss-Prot),   Q9UDZ7 (UniProtKB/Swiss-Prot),   Q9NU51 (UniProtKB/Swiss-Prot),   Q6MZQ9 (UniProtKB/Swiss-Prot),   Q5T5H7 (UniProtKB/Swiss-Prot),   Q14276 (UniProtKB/Swiss-Prot),   Q13511 (UniProtKB/Swiss-Prot),   P03372 (UniProtKB/Swiss-Prot),   G4XH65 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054210452   ⟸   XM_054354477
- Peptide Label: isoform X1
- UniProtKB: Q9UIS7 (UniProtKB/Swiss-Prot),   Q9UDZ7 (UniProtKB/Swiss-Prot),   Q9NU51 (UniProtKB/Swiss-Prot),   Q6MZQ9 (UniProtKB/Swiss-Prot),   Q5T5H7 (UniProtKB/Swiss-Prot),   Q14276 (UniProtKB/Swiss-Prot),   Q13511 (UniProtKB/Swiss-Prot),   P03372 (UniProtKB/Swiss-Prot),   G4XH65 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054210462   ⟸   XM_054354487
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054210447   ⟸   XM_054354472
- Peptide Label: isoform X1
- UniProtKB: Q9UIS7 (UniProtKB/Swiss-Prot),   Q9UDZ7 (UniProtKB/Swiss-Prot),   Q9NU51 (UniProtKB/Swiss-Prot),   Q6MZQ9 (UniProtKB/Swiss-Prot),   Q5T5H7 (UniProtKB/Swiss-Prot),   Q14276 (UniProtKB/Swiss-Prot),   Q13511 (UniProtKB/Swiss-Prot),   P03372 (UniProtKB/Swiss-Prot),   G4XH65 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054210450   ⟸   XM_054354475
- Peptide Label: isoform X1
- UniProtKB: Q9UIS7 (UniProtKB/Swiss-Prot),   Q9UDZ7 (UniProtKB/Swiss-Prot),   Q9NU51 (UniProtKB/Swiss-Prot),   Q6MZQ9 (UniProtKB/Swiss-Prot),   Q5T5H7 (UniProtKB/Swiss-Prot),   Q14276 (UniProtKB/Swiss-Prot),   Q13511 (UniProtKB/Swiss-Prot),   P03372 (UniProtKB/Swiss-Prot),   G4XH65 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054210456   ⟸   XM_054354481
- Peptide Label: isoform X2
- UniProtKB: A0A125SXW3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054210464   ⟸   XM_054354489
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054210453   ⟸   XM_054354478
- Peptide Label: isoform X1
- UniProtKB: Q9UIS7 (UniProtKB/Swiss-Prot),   Q9UDZ7 (UniProtKB/Swiss-Prot),   Q9NU51 (UniProtKB/Swiss-Prot),   Q6MZQ9 (UniProtKB/Swiss-Prot),   Q5T5H7 (UniProtKB/Swiss-Prot),   Q14276 (UniProtKB/Swiss-Prot),   Q13511 (UniProtKB/Swiss-Prot),   P03372 (UniProtKB/Swiss-Prot),   G4XH65 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054210455   ⟸   XM_054354480
- Peptide Label: isoform X1
- UniProtKB: Q9UIS7 (UniProtKB/Swiss-Prot),   Q9UDZ7 (UniProtKB/Swiss-Prot),   Q9NU51 (UniProtKB/Swiss-Prot),   Q6MZQ9 (UniProtKB/Swiss-Prot),   Q5T5H7 (UniProtKB/Swiss-Prot),   Q14276 (UniProtKB/Swiss-Prot),   Q13511 (UniProtKB/Swiss-Prot),   P03372 (UniProtKB/Swiss-Prot),   G4XH65 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054210458   ⟸   XM_054354483
- Peptide Label: isoform X2
- UniProtKB: A0A125SXW3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054210454   ⟸   XM_054354479
- Peptide Label: isoform X1
- UniProtKB: Q9UIS7 (UniProtKB/Swiss-Prot),   Q9UDZ7 (UniProtKB/Swiss-Prot),   Q9NU51 (UniProtKB/Swiss-Prot),   Q6MZQ9 (UniProtKB/Swiss-Prot),   Q5T5H7 (UniProtKB/Swiss-Prot),   Q14276 (UniProtKB/Swiss-Prot),   Q13511 (UniProtKB/Swiss-Prot),   P03372 (UniProtKB/Swiss-Prot),   G4XH65 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054210463   ⟸   XM_054354488
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054210459   ⟸   XM_054354484
- Peptide Label: isoform X2
- UniProtKB: A0A125SXW3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054210460   ⟸   XM_054354485
- Peptide Label: isoform X2
- UniProtKB: A0A125SXW3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054210466   ⟸   XM_054354491
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054210461   ⟸   XM_054354486
- Peptide Label: isoform X2
- UniProtKB: A0A125SXW3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054210449   ⟸   XM_054354474
- Peptide Label: isoform X1
- UniProtKB: Q9UIS7 (UniProtKB/Swiss-Prot),   Q9UDZ7 (UniProtKB/Swiss-Prot),   Q9NU51 (UniProtKB/Swiss-Prot),   Q6MZQ9 (UniProtKB/Swiss-Prot),   Q5T5H7 (UniProtKB/Swiss-Prot),   Q14276 (UniProtKB/Swiss-Prot),   Q13511 (UniProtKB/Swiss-Prot),   P03372 (UniProtKB/Swiss-Prot),   G4XH65 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054210457   ⟸   XM_054354482
- Peptide Label: isoform X2
- UniProtKB: A0A125SXW3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054210465   ⟸   XM_054354490
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054210467   ⟸   XM_054354492
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054210468   ⟸   XM_054354493
- Peptide Label: isoform X6
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P03372-F1-model_v2 AlphaFold P03372 1-595 view protein structure

Promoters
RGD ID:7209457
Promoter ID:EPDNEW_H10474
Type:initiation region
Name:ESR1_4
Description:estrogen receptor 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10473  EPDNEW_H10475  EPDNEW_H10476  EPDNEW_H10477  EPDNEW_H10478  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh386151,656,672 - 151,656,732EPDNEW
RGD ID:7209459
Promoter ID:EPDNEW_H10475
Type:initiation region
Name:ESR1_2
Description:estrogen receptor 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10473  EPDNEW_H10474  EPDNEW_H10476  EPDNEW_H10477  EPDNEW_H10478  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh386151,690,527 - 151,690,587EPDNEW
RGD ID:7209461
Promoter ID:EPDNEW_H10476
Type:initiation region
Name:ESR1_5
Description:estrogen receptor 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10473  EPDNEW_H10474  EPDNEW_H10475  EPDNEW_H10477  EPDNEW_H10478  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh386151,805,705 - 151,805,765EPDNEW
RGD ID:7209463
Promoter ID:EPDNEW_H10477
Type:initiation region
Name:ESR1_1
Description:estrogen receptor 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10473  EPDNEW_H10474  EPDNEW_H10475  EPDNEW_H10476  EPDNEW_H10478  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh386151,807,682 - 151,807,742EPDNEW
RGD ID:7209465
Promoter ID:EPDNEW_H10478
Type:initiation region
Name:ESR1_3
Description:estrogen receptor 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10473  EPDNEW_H10474  EPDNEW_H10475  EPDNEW_H10476  EPDNEW_H10477  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh386151,809,107 - 151,809,167EPDNEW
RGD ID:6850218
Promoter ID:EP11141
Type:single initiation site
Name:HS_ESR1
Description:Estrogen receptor, SR1 or NR3A1 or ESR gene.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Nuclease protection with homologous sequence ladder; Primer extension with homologous sequence ladder
Regulation:female sex (repressed by or weakly expressed in) accessory tissues
Position:
Human AssemblyChrPosition (strand)Source
Build 366152,170,507 - 152,170,567EPD

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3467 AgrOrtholog
COSMIC ESR1 COSMIC
Ensembl Genes ENSG00000091831 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000206249 ENTREZGENE
  ENST00000206249.8 UniProtKB/Swiss-Prot
  ENST00000338799 ENTREZGENE
  ENST00000338799.9 UniProtKB/Swiss-Prot
  ENST00000404742.5 UniProtKB/TrEMBL
  ENST00000406599.5 UniProtKB/TrEMBL
  ENST00000415488.1 UniProtKB/TrEMBL
  ENST00000427531 ENTREZGENE
  ENST00000427531.6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENST00000440973 ENTREZGENE
  ENST00000440973.5 UniProtKB/Swiss-Prot
  ENST00000443427 ENTREZGENE
  ENST00000443427.5 UniProtKB/Swiss-Prot
  ENST00000446550.1 UniProtKB/TrEMBL
  ENST00000456483.3 UniProtKB/TrEMBL
Gene3D-CATH 1.10.565.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.50.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000091831 GTEx
HGNC ID HGNC:3467 ENTREZGENE
Human Proteome Map ESR1 Human Proteome Map
InterPro Estr_rcpt_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NHR-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nucl_hrmn_rcpt_lig-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nuclear_hrmn_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Oest_rcpt/oest-rel_rcp UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Oestr_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Oestrogen-typ_rcpt_final_C_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_hrmn_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_NHR/GATA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2099 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 2099 ENTREZGENE
OMIM 133430 OMIM
PANTHER ESTROGEN RECEPTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KNIRPS-RELATED PROTEIN-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ESR1_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Hormone_recep UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Oest_recep UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  zf-C4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB ESR1 RGD, PharmGKB
PIRSF ER-a UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ER-like_NR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS OESTROGENR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  STRDHORMONER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  STROIDFINGER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE NR_LBD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NUCLEAR_REC_DBD_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NUCLEAR_REC_DBD_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART HOLI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZnF_C4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Glucocorticoid receptor-like (DNA-binding domain) UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF48508 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A125SXV6_HUMAN UniProtKB/TrEMBL
  A0A125SXV7_HUMAN UniProtKB/TrEMBL
  A0A125SXV8_HUMAN UniProtKB/TrEMBL
  A0A125SXV9_HUMAN UniProtKB/TrEMBL
  A0A125SXW0_HUMAN UniProtKB/TrEMBL
  A0A125SXW1_HUMAN UniProtKB/TrEMBL
  A0A125SXW2 ENTREZGENE, UniProtKB/TrEMBL
  A0A125SXW3 ENTREZGENE, UniProtKB/TrEMBL
  A0A3G1VCY8_HUMAN UniProtKB/TrEMBL
  A0A4P8D7D1_HUMAN UniProtKB/TrEMBL
  A0A679EM68_HUMAN UniProtKB/TrEMBL
  A8KAF4 ENTREZGENE, UniProtKB/TrEMBL
  B0QYW7_HUMAN UniProtKB/TrEMBL
  B5LY05_HUMAN UniProtKB/TrEMBL
  B5M0Y2_HUMAN UniProtKB/TrEMBL
  B5TKC0_HUMAN UniProtKB/TrEMBL
  B5TKC1_HUMAN UniProtKB/TrEMBL
  B5TKC2_HUMAN UniProtKB/TrEMBL
  B5TZ77_HUMAN UniProtKB/TrEMBL
  B5TZ78_HUMAN UniProtKB/TrEMBL
  B5TZ79_HUMAN UniProtKB/TrEMBL
  B5TZ80_HUMAN UniProtKB/TrEMBL
  B5TZ81_HUMAN UniProtKB/TrEMBL
  B5TZ82_HUMAN UniProtKB/TrEMBL
  B5TZ83_HUMAN UniProtKB/TrEMBL
  B6DP71_HUMAN UniProtKB/TrEMBL
  B6DP72_HUMAN UniProtKB/TrEMBL
  B6DP73_HUMAN UniProtKB/TrEMBL
  B6DP74_HUMAN UniProtKB/TrEMBL
  B6DP75_HUMAN UniProtKB/TrEMBL
  B6DU66_HUMAN UniProtKB/TrEMBL
  B6DU67_HUMAN UniProtKB/TrEMBL
  B6DU68_HUMAN UniProtKB/TrEMBL
  B6DU69_HUMAN UniProtKB/TrEMBL
  B6DU70_HUMAN UniProtKB/TrEMBL
  B6ZGU3 ENTREZGENE, UniProtKB/TrEMBL
  C0L927_HUMAN UniProtKB/TrEMBL
  C0LJA7_HUMAN UniProtKB/TrEMBL
  C0LJA8_HUMAN UniProtKB/TrEMBL
  C0LJA9_HUMAN UniProtKB/TrEMBL
  C0LLI5_HUMAN UniProtKB/TrEMBL
  C0LLI6_HUMAN UniProtKB/TrEMBL
  C0LLI7_HUMAN UniProtKB/TrEMBL
  C0LLI8_HUMAN UniProtKB/TrEMBL
  C0LLI9_HUMAN UniProtKB/TrEMBL
  C7FFR5_HUMAN UniProtKB/TrEMBL
  C8CD01_HUMAN UniProtKB/TrEMBL
  C8CJK8_HUMAN UniProtKB/TrEMBL
  C8CJK9_HUMAN UniProtKB/TrEMBL
  C8CJL0_HUMAN UniProtKB/TrEMBL
  C8CJL1_HUMAN UniProtKB/TrEMBL
  C8CJL2_HUMAN UniProtKB/TrEMBL
  C8CJL3_HUMAN UniProtKB/TrEMBL
  C8CJL4_HUMAN UniProtKB/TrEMBL
  C8CJL5_HUMAN UniProtKB/TrEMBL
  C8CJL6_HUMAN UniProtKB/TrEMBL
  C9E0E9_HUMAN UniProtKB/TrEMBL
  C9E0F0_HUMAN UniProtKB/TrEMBL
  C9E0F1_HUMAN UniProtKB/TrEMBL
  C9E0F2_HUMAN UniProtKB/TrEMBL
  C9E0F3_HUMAN UniProtKB/TrEMBL
  E3WH18_HUMAN UniProtKB/TrEMBL
  E3WH19_HUMAN UniProtKB/TrEMBL
  ESR1_HUMAN UniProtKB/Swiss-Prot
  G4XH65 ENTREZGENE, UniProtKB/TrEMBL
  H0Y4W6 ENTREZGENE, UniProtKB/TrEMBL
  K4PX46_HUMAN UniProtKB/TrEMBL
  K4PXX0_HUMAN UniProtKB/TrEMBL
  K4Q331_HUMAN UniProtKB/TrEMBL
  K7R989_HUMAN UniProtKB/TrEMBL
  L8E8A8_HUMAN UniProtKB/TrEMBL
  P03372 ENTREZGENE
  Q0H8T6_HUMAN UniProtKB/TrEMBL
  Q13511 ENTREZGENE
  Q14276 ENTREZGENE
  Q5T5H7 ENTREZGENE
  Q5T5H8_HUMAN UniProtKB/TrEMBL
  Q6MZQ9 ENTREZGENE
  Q9H1Z6_HUMAN UniProtKB/TrEMBL
  Q9H2M1_HUMAN UniProtKB/TrEMBL
  Q9H2M2_HUMAN UniProtKB/TrEMBL
  Q9NU51 ENTREZGENE
  Q9UBT1_HUMAN UniProtKB/TrEMBL
  Q9UDZ7 ENTREZGENE
  Q9UE35_HUMAN UniProtKB/TrEMBL
  Q9UIS7 ENTREZGENE
UniProt Secondary Q13511 UniProtKB/Swiss-Prot
  Q14276 UniProtKB/Swiss-Prot
  Q5T5H7 UniProtKB/Swiss-Prot
  Q6MZQ9 UniProtKB/Swiss-Prot
  Q9NU51 UniProtKB/Swiss-Prot
  Q9UDZ7 UniProtKB/Swiss-Prot
  Q9UIS7 UniProtKB/Swiss-Prot