AutismKB 2.0

Annotation Detail for IL3RA


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:IL3RA ( CD123,IL3R,IL3RAY,IL3RX,IL3RY,MGC34174,hIL-3Ra )
Gene Full Name: interleukin 3 receptor, alpha (low affinity)
Band: Xp22.3 and Yp13.3
Quick LinksEntrez ID:3563; OMIM: 308385,430000; Uniprot ID:IL3RA_HUMAN; ENSEMBL ID: ENSG00000185291; HGNC ID: 6012
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
blastocyst1 / 6231916
fetus3 / 5640125
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult31 / 193912115
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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor2 / 2638457
glioma1 / 1068839
head and neck tumor1 / 1363027
kidney tumor0 / 689590 
leukemia1 / 9584210
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal33 / 33603079
ovarian tumor0 / 766820 
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood3 / 12347824
bone0 / 716550 
bone marrow0 / 488010 
brain5 / 11009894
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue2 / 2157229
esophagus0 / 202090 
eye3 / 21105414
heart0 / 896260 
intestine2 / 2344728
kidney1 / 2117774
larynx1 / 2414541
liver1 / 2077434
lung4 / 33697411
lymph0 / 442700 
lymph node0 / 916100 
mammary gland1 / 1532716
mouth0 / 670520 
muscle1 / 1077159
nerve0 / 157680 
ovary2 / 10205119
pancreas2 / 2148129
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta1 / 2808253
prostate4 / 18934521
salivary gland0 / 201550 
skin0 / 2105740 
spleen1 / 5395218
stomach0 / 966190 
testis1 / 3304423
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 206148_at
Cell line Expression level Expression bar
721_B_lymphoblasts16.3
Adipocyte16
AdrenalCortex44.65
Adrenalgland14.45
Amygdala16.15
Appendix16.85
AtrioventricularNode25.35
BDCA4+_DentriticCells778.2
Bonemarrow26.7
BronchialEpithelialCells10.7
CD105+_Endothelial15.2
CD14+_Monocytes17.15
CD19+_BCells(neg._sel.)16.3
CD33+_Myeloid17.8
CD34+14.6
CD4+_Tcells16.15
CD56+_NKCells17.1
CD71+_EarlyErythroid17.05
CD8+_Tcells11.05
CardiacMyocytes15.25
Caudatenucleus19.9
Cerebellum14.15
CerebellumPeduncles19.35
CiliaryGanglion14.05
CingulateCortex17.6
Colorectaladenocarcinoma16.95
DorsalRootGanglion14.55
FetalThyroid13.7
Fetalbrain15.45
Fetalliver14.95
Fetallung21.55
GlobusPallidus17.6
Heart23.55
Hypothalamus16
Kidney15.95
Leukemia_chronicMyelogenousK-56215.9
Leukemia_promyelocytic-HL-6014.15
Leukemialymphoblastic(MOLT-4)13.15
Liver21.3
Lung89.9
Lymphnode21.85
Lymphoma_burkitts(Daudi)19.5
Lymphoma_burkitts(Raji)26.8
MedullaOblongata15.7
OccipitalLobe14.05
OlfactoryBulb14.8
Ovary11.25
Pancreas13.25
PancreaticIslet17.1
ParietalLobe17.95
Pituitary22.8
Placenta15.45
Pons28.6
PrefrontalCortex16.25
Prostate20.45
Salivarygland17.3
SkeletalMuscle34.35
Skin15.6
SmoothMuscle7.85
Spinalcord17.65
SubthalamicNucleus15.4
SuperiorCervicalGanglion26.45
TemporalLobe23.7
Testis14.1
TestisGermCell10
TestisIntersitial13.8
TestisLeydigCell16.3
TestisSeminiferousTubule15.15
Thalamus17.1
Thymus12.1
Thyroid16.2
Tongue17.65
Tonsil19.75
Trachea13.75
TrigeminalGanglion25.6
Uterus13.15
UterusCorpus18.85
WholeBlood9.1
Wholebrain12.2
colon16.25
pineal_day20.82
pineal_night21.4
retina15.9
small_intestine16
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P253081
  • 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
Amygdala3.05 ± 0.77
Basal Forebrain2.94 ± 0.48
Basal Part of Pons3.07 ± 0.73
Cerebellar Cortex2.79 ± 0.67
Cerebellar Nuclei3.57 ± 0.54
Claustrum3.32 ± 0.73
Epithalamus3.51 ± 0.49
Frontal Lobe3.16 ± 0.67
Globus Pallidus3.56 ± 0.43
Hypothalamus2.73 ± 0.84
Insula3.09 ± 0.81
Limbic Lobe3.05 ± 0.7
Mesencephalon3.23 ± 0.5
Myelencephalon3.25 ± 0.66
Occipital Lobe3.19 ± 0.59
Parietal Lobe2.94 ± 0.67
Pontine Tegmentum3.19 ± 0.65
Striatum3.43 ± 0.6
Subthalamus3.66 ± 0.44
Temporal Lobe3.26 ± 0.62
Thalamus3.37 ± 0.59
White Matter3.92 ± 0.85
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