AutismKB 2.0

Annotation Detail for ESRRA


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Basic Information Top
Gene Symbol:ESRRA ( ERR1,ERRa,ERRalpha,ESRL1,NR3B1 )
Gene Full Name: estrogen-related receptor alpha
Band: 11q13.1
Quick LinksEntrez ID:2101; OMIM: 601998; Uniprot ID:ERR1_HUMAN; ENSEMBL ID: ENSG00000173153; HGNC ID: 3471
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 body1 / 7076114
blastocyst3 / 6231948
fetus9 / 56401215
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult134 / 193912169
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor5 / 9417853
cervical tumor7 / 34366203
chondrosarcoma4 / 8282348
colorectal tumor8 / 11424670
esophageal tumor0 / 172900 
gastrointestinal tumor58 / 119369485
germ cell tumor19 / 26384572
glioma23 / 106883215
head and neck tumor4 / 13630229
kidney tumor8 / 68959116
leukemia4 / 9584241
liver tumor2 / 9635920
lung tumor20 / 103127193
lymphoma11 / 71755153
non-neoplasia2 / 9725020
normal92 / 336030727
ovarian tumor2 / 7668226
pancreatic tumor16 / 104616152
primitive neuroectodermal tumor of the CNS9 / 12568071
prostate cancer3 / 10268029
retinoblastoma2 / 4635643
skin tumor18 / 124949144
soft tissue/muscle tissue tumor19 / 125191151
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites37 / 40015924
bladder0 / 297570 
blood3 / 12347824
bone1 / 7165513
bone marrow1 / 4880120
brain35 / 110098931
cervix11 / 48171228
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue5 / 21572223
esophagus0 / 202090 
eye9 / 21105442
heart5 / 8962655
intestine19 / 23447281
kidney21 / 21177799
larynx1 / 2414541
liver2 / 2077439
lung33 / 33697497
lymph1 / 4427022
lymph node13 / 91610141
mammary gland5 / 15327132
mouth0 / 670520 
muscle7 / 10771564
nerve0 / 157680 
ovary3 / 10205129
pancreas16 / 21481274
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta18 / 28082564
prostate12 / 18934563
salivary gland3 / 20155148
skin18 / 21057485
spleen2 / 5395237
stomach8 / 9661982
testis4 / 33044212
thymus0 / 811310 
thyroid1 / 4747321
tonsil9 / 16999529
trachea0 / 524130 
umbilical cord0 / 136800 
uterus24 / 232878103
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 1487_at
Cell line Expression level Expression bar
721_B_lymphoblasts40.5
Adipocyte25.15
AdrenalCortex28.65
Adrenalgland22.15
Amygdala24.45
Appendix23.2
AtrioventricularNode16.7
BDCA4+_DentriticCells21.75
Bonemarrow27
BronchialEpithelialCells24.7
CD105+_Endothelial22.35
CD14+_Monocytes27.65
CD19+_BCells(neg._sel.)22.3
CD33+_Myeloid28.1
CD34+24.3
CD4+_Tcells20.35
CD56+_NKCells23.45
CD71+_EarlyErythroid23.35
CD8+_Tcells22.9
CardiacMyocytes29.9
Caudatenucleus20.05
Cerebellum23.05
CerebellumPeduncles28.2
CiliaryGanglion16.7
CingulateCortex23.8
Colorectaladenocarcinoma34.9
DorsalRootGanglion17.15
FetalThyroid28.85
Fetalbrain22.5
Fetalliver18.9
Fetallung20.5
GlobusPallidus16.55
Heart81.7
Hypothalamus25.6
Kidney33.9
Leukemia_chronicMyelogenousK-56233.4
Leukemia_promyelocytic-HL-6032.75
Leukemialymphoblastic(MOLT-4)24.55
Liver87.9
Lung36.75
Lymphnode22.75
Lymphoma_burkitts(Daudi)34.05
Lymphoma_burkitts(Raji)65.5
MedullaOblongata17.95
OccipitalLobe19.1
OlfactoryBulb17.55
Ovary16.05
Pancreas24.15
PancreaticIslet48.7
ParietalLobe25.6
Pituitary27
Placenta29.35
Pons26.95
PrefrontalCortex29.7
Prostate29.55
Salivarygland18.9
SkeletalMuscle57.9
Skin17.2
SmoothMuscle27
Spinalcord24.6
SubthalamicNucleus18.85
SuperiorCervicalGanglion17.65
TemporalLobe22.75
Testis15.55
TestisGermCell15.05
TestisIntersitial18.75
TestisLeydigCell21.7
TestisSeminiferousTubule17.9
Thalamus29
Thymus18.9
Thyroid46.4
Tongue23.85
Tonsil24.9
Trachea19.8
TrigeminalGanglion22.45
Uterus16.25
UterusCorpus20.5
WholeBlood45.45
Wholebrain20.45
colon23.85
pineal_day23.94
pineal_night22.7
retina29.15
small_intestine25.1
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P1585
  • 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
Amygdala8.71 ± 0.32
Basal Forebrain8.8 ± 0.19
Basal Part of Pons9.63 ± 0.29
Cerebellar Cortex9.57 ± 0.21
Cerebellar Nuclei10.21 ± 0.43
Claustrum8.51 ± 0.28
Epithalamus8.77 ± 0.37
Frontal Lobe9.32 ± 0.52
Globus Pallidus9.7 ± 0.4
Hypothalamus8.38 ± 0.23
Insula9.03 ± 0.26
Limbic Lobe9.27 ± 0.4
Mesencephalon9.19 ± 0.47
Myelencephalon9.27 ± 0.57
Occipital Lobe9.76 ± 0.44
Parietal Lobe9.52 ± 0.41
Pontine Tegmentum9.29 ± 0.63
Striatum9.11 ± 0.46
Subthalamus9.94 ± 0.18
Temporal Lobe8.98 ± 0.52
Thalamus9.59 ± 0.61
White Matter8.26 ± 0.4
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
EsrraCBCerebellum29
41.3
EsrraCTXCerebral cortex41.73
24.6
EsrraHIPHippocampal region42.39
28.68
EsrraHPFHippocampal formation44.08
29.07
EsrraHYHypothalamus16.61
10.24
EsrraLSXLateral septal complex11.48
5.46
EsrraMBMidbrain21.26
16.98
EsrraMYMedulla43.22
44.04
EsrraOLFOlfactory bulb64.31
32.94
EsrraPPons33.45
32.1
EsrraPALPallidum22.36
18.77
EsrraRHPRetrohippocampal region49.54
31.06
EsrrasAMYStriatum-like amygdalar nuclei17.86
9.68
EsrraSTRStriatum18.64
9.37
EsrraSTRdStriatum dorsal region17.4
8.35
EsrraSTRvStriatum ventral region28.89
14.75
EsrraTHThalamus43.7
35.77
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00009577 23 46 68 CLPGHKEEEDGEGAGPGEQGGGK Peptide Atlas

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


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