AutismKB 2.0

Annotation Detail for NR5A2


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Basic Information Top
Gene Symbol:NR5A2 ( B1F,B1F2,CPF,FTF,FTZ-F1,FTZ-F1beta,LRH-1,LRH1,hB1F,hB1F-2 )
Gene Full Name: nuclear receptor subfamily 5, group A, member 2
Band: 1q32.1
Quick LinksEntrez ID:2494; OMIM: 604453; Uniprot ID:NR5A2_HUMAN; ENSEMBL ID: ENSG00000116833; HGNC ID: 7984
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
blastocyst0 / 623190 
fetus12 / 56401221
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult15 / 19391217
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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor2 / 2638457
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor2 / 9635920
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal45 / 336030713
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor1 / 9025711
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 
brain2 / 11009891
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine5 / 23447221
kidney2 / 2117779
larynx0 / 241450 
liver7 / 20774333
lung2 / 3369745
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle1 / 1077159
nerve1 / 1576863
ovary0 / 1020510 
pancreas13 / 21481260
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis1 / 3304423
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea3 / 5241357
umbilical cord0 / 136800 
uterus2 / 2328788
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 210174_at
Cell line Expression level Expression bar
721_B_lymphoblasts7.15
Adipocyte6.15
AdrenalCortex7.05
Adrenalgland5.5
Amygdala6.4
Appendix7.5
AtrioventricularNode6.05
BDCA4+_DentriticCells5.95
Bonemarrow6.65
BronchialEpithelialCells6.05
CD105+_Endothelial6.5
CD14+_Monocytes6.6
CD19+_BCells(neg._sel.)6.25
CD33+_Myeloid7.75
CD34+7.6
CD4+_Tcells6.35
CD56+_NKCells7
CD71+_EarlyErythroid5.95
CD8+_Tcells5.45
CardiacMyocytes8.9
Caudatenucleus5.7
Cerebellum5.15
CerebellumPeduncles7.3
CiliaryGanglion5.15
CingulateCortex6.5
Colorectaladenocarcinoma6.35
DorsalRootGanglion6.35
FetalThyroid8.5
Fetalbrain6.2
Fetalliver5.95
Fetallung5.4
GlobusPallidus4.8
Heart9.6
Hypothalamus6.55
Kidney5.4
Leukemia_chronicMyelogenousK-5625.6
Leukemia_promyelocytic-HL-605.6
Leukemialymphoblastic(MOLT-4)5
Liver9.25
Lung6.85
Lymphnode5.35
Lymphoma_burkitts(Daudi)8.25
Lymphoma_burkitts(Raji)9.4
MedullaOblongata5.6
OccipitalLobe5.55
OlfactoryBulb4.85
Ovary4.85
Pancreas58.6
PancreaticIslet95.4
ParietalLobe6.9
Pituitary7.3
Placenta6.4
Pons6.1
PrefrontalCortex7.2
Prostate7.15
Salivarygland5.3
SkeletalMuscle8.65
Skin5.8
SmoothMuscle7.05
Spinalcord6.7
SubthalamicNucleus5.9
SuperiorCervicalGanglion9.65
TemporalLobe6.35
Testis5.45
TestisGermCell5.25
TestisIntersitial5.25
TestisLeydigCell6.85
TestisSeminiferousTubule5.4
Thalamus6.5
Thymus4.85
Thyroid7.8
Tongue6.75
Tonsil6.2
Trachea5.25
TrigeminalGanglion8.95
Uterus5.05
UterusCorpus6.45
WholeBlood6.85
Wholebrain5.05
colon7.95
pineal_day7.48
pineal_night7.48
retina7.425
small_intestine6.7
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P920090
  • 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
Amygdala2.37 ± 1.06
Basal Forebrain1.88 ± 0.42
Basal Part of Pons1.89 ± 0.63
Cerebellar Cortex1.86 ± 0.8
Cerebellar Nuclei2.29 ± 0.83
Claustrum2.73 ± 0.82
Epithalamus1.24 ± 0.82
Frontal Lobe1.9 ± 0.71
Globus Pallidus2.71 ± 0.73
Hypothalamus2.13 ± 0.65
Insula1.64 ± 0.43
Limbic Lobe2.1 ± 0.71
Mesencephalon2.23 ± 0.82
Myelencephalon2.12 ± 0.73
Occipital Lobe2.11 ± 0.85
Parietal Lobe2.17 ± 0.81
Pontine Tegmentum2.04 ± 0.78
Striatum2.28 ± 0.76
Subthalamus2.11 ± 0.44
Temporal Lobe1.99 ± 0.74
Thalamus1.98 ± 0.68
White Matter2.72 ± 0.43
Mouse Brain ISH
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


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