AutismKB 2.0

Annotation Detail for ESR1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:ESR1 ( DKFZp686N23123,ER,ESR,ESRA,Era,NR3A1 )
Gene Full Name: estrogen receptor 1
Band: 6q25.1-q25.2
Quick LinksEntrez ID:2099; OMIM: 133430; Uniprot ID:ESR1_HUMAN; ENSEMBL ID: ENSG00000091831; HGNC ID: 3467
Relate to Another Database: SFARIGene; denovo-db
Unigene EST Top
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
embryoid body0 / 707610 
blastocyst0 / 623190 
fetus3 / 5640125
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult42 / 193912121
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor6 / 9417863
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal36 / 336030710
ovarian tumor7 / 7668291
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor34 / 90257376
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain1 / 11009890 
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye1 / 2110544
heart3 / 8962633
intestine0 / 2344720 
kidney3 / 21177714
larynx0 / 241450 
liver0 / 2077430 
lung3 / 3369748
lymph0 / 442700 
lymph node1 / 9161010
mammary gland10 / 15327165
mouth0 / 670520 
muscle8 / 10771574
nerve0 / 157680 
ovary11 / 102051107
pancreas2 / 2148129
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta0 / 2808250 
prostate6 / 18934531
salivary gland0 / 201550 
skin0 / 2105740 
spleen2 / 5395237
stomach0 / 966190 
testis3 / 3304429
thymus2 / 8113124
thyroid0 / 474730 
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus58 / 232878249
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 217190_x_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.65
Adipocyte5
AdrenalCortex5.55
Adrenalgland4.35
Amygdala5.3
Appendix5.9
AtrioventricularNode4.4
BDCA4+_DentriticCells5.55
Bonemarrow5.25
BronchialEpithelialCells4.9
CD105+_Endothelial5.6
CD14+_Monocytes5.55
CD19+_BCells(neg._sel.)5.6
CD33+_Myeloid6.7
CD34+6.7
CD4+_Tcells5.75
CD56+_NKCells6.35
CD71+_EarlyErythroid5.85
CD8+_Tcells4.8
CardiacMyocytes8.7
Caudatenucleus4.8
Cerebellum4.2
CerebellumPeduncles5.9
CiliaryGanglion4.15
CingulateCortex5.45
Colorectaladenocarcinoma5.35
DorsalRootGanglion4.5
FetalThyroid5
Fetalbrain5
Fetalliver4.4
Fetallung4
GlobusPallidus4.15
Heart8.1
Hypothalamus5.4
Kidney4.15
Leukemia_chronicMyelogenousK-5624.6
Leukemia_promyelocytic-HL-604.55
Leukemialymphoblastic(MOLT-4)4.1
Liver7
Lung5.7
Lymphnode4.3
Lymphoma_burkitts(Daudi)6.75
Lymphoma_burkitts(Raji)7.8
MedullaOblongata4.65
OccipitalLobe4.65
OlfactoryBulb4
Ovary3.5
Pancreas4.2
PancreaticIslet5.7
ParietalLobe5.5
Pituitary5.9
Placenta5.25
Pons4.95
PrefrontalCortex6.45
Prostate6.05
Salivarygland4.15
SkeletalMuscle6.5
Skin5.55
SmoothMuscle5.75
Spinalcord5.5
SubthalamicNucleus4.7
SuperiorCervicalGanglion7.1
TemporalLobe4.85
Testis4.4
TestisGermCell4.05
TestisIntersitial4.3
TestisLeydigCell5.3
TestisSeminiferousTubule4.35
Thalamus5.3
Thymus3.9
Thyroid6.3
Tongue5.15
Tonsil5
Trachea4.25
TrigeminalGanglion7.25
Uterus4.15
UterusCorpus4.65
WholeBlood5.65
Wholebrain4.1
colon5.2
pineal_day14.26
pineal_night11.4
retina6.35
small_intestine5.05
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P325215
  • Donor H0351.2001
  • Sex: Male     Age: 24 years     Race/Ethnicity: African American     Handedness: Left
  • Tissue Receipt Date: 7/29/2009     Serology: Pass      Tissue pH :6.72     Additional Medical Information :History of asthma
  • Postmortem Interval: 23 hours (estimated time of death to time that tissue is frozen)
  • Toxicology: Positive for atropine and caffeine, at levels usually not toxicologically significant
Tissue Expression(mean ± stddev) Expression Bar
Amygdala2.55 ± 1
Basal Forebrain2.05 ± 0.2
Basal Part of Pons1.71 ± 0.37
Cerebellar Cortex1.88 ± 0.53
Cerebellar Nuclei2.41 ± 0.74
Claustrum2.96 ± 0.87
Epithalamus1.8 ± 0.62
Frontal Lobe1.9 ± 0.57
Globus Pallidus2.63 ± 0.32
Hypothalamus2.15 ± 0.6
Insula1.96 ± 0.52
Limbic Lobe2.07 ± 0.57
Mesencephalon2.2 ± 0.61
Myelencephalon2.1 ± 0.65
Occipital Lobe2.14 ± 0.65
Parietal Lobe2.07 ± 0.7
Pontine Tegmentum2.15 ± 0.67
Striatum2.28 ± 0.7
Subthalamus2.2 ± 0.58
Temporal Lobe1.99 ± 0.67
Thalamus2.07 ± 0.71
White Matter2.64 ± 0.42
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Esr1CBCerebellum1.07
1.69
Esr1CTXCerebral cortex0.6
0.71
Esr1HIPHippocampal region0.85
0.69
Esr1HPFHippocampal formation1.03
1.04
Esr1HYHypothalamus1.15
1.11
Esr1LSXLateral septal complex0.17
0.63
Esr1MBMidbrain0.39
0.48
Esr1MYMedulla1.05
1.11
Esr1OLFOlfactory bulb0.94
0.9
Esr1PPons0.42
0.45
Esr1PALPallidum0.47
0.44
Esr1RHPRetrohippocampal region1.2
1.26
Esr1sAMYStriatum-like amygdalar nuclei1.38
0.67
Esr1STRStriatum0.35
0.42
Esr1STRdStriatum dorsal region0.21
0.35
Esr1STRvStriatum ventral region0.39
0.45
Esr1THThalamus0.24
0.38
Peptide Top

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved