AutismKB 2.0

Annotation Detail for AIRE


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Basic Information Top
Gene Symbol:AIRE ( AIRE1,APECED,APS1,APSI,PGA1 )
Gene Full Name: autoimmune regulator
Band: 21q22.3
Quick LinksEntrez ID:326; OMIM: 607358; Uniprot ID:AIRE_HUMAN; ENSEMBL ID: ENSG00000160224; HGNC ID: 360
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 
fetus0 / 5640120 
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult0 / 19391210 
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 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor2 / 2638457
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal1 / 33603070 
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 tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain0 / 11009890 
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine0 / 2344720 
kidney1 / 2117774
larynx0 / 241450 
liver0 / 2077430 
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis0 / 3304420 
thymus2 / 8113124
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: 208090_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.35
Adipocyte6.25
AdrenalCortex8.35
Adrenalgland4.65
Amygdala4.9
Appendix5.7
AtrioventricularNode4.85
BDCA4+_DentriticCells6.1
Bonemarrow5.8
BronchialEpithelialCells5.55
CD105+_Endothelial5.6
CD14+_Monocytes5.9
CD19+_BCells(neg._sel.)5.95
CD33+_Myeloid6.55
CD34+6.95
CD4+_Tcells7.85
CD56+_NKCells6.65
CD71+_EarlyErythroid5.15
CD8+_Tcells6.45
CardiacMyocytes9.4
Caudatenucleus4.9
Cerebellum4.5
CerebellumPeduncles6.2
CiliaryGanglion4.1
CingulateCortex6.15
Colorectaladenocarcinoma5.5
DorsalRootGanglion5.65
FetalThyroid5.2
Fetalbrain5.45
Fetalliver4.75
Fetallung4.6
GlobusPallidus4.05
Heart7.55
Hypothalamus5.7
Kidney4.25
Leukemia_chronicMyelogenousK-5624.7
Leukemia_promyelocytic-HL-604.7
Leukemialymphoblastic(MOLT-4)4.65
Liver8.2
Lung5.7
Lymphnode5.25
Lymphoma_burkitts(Daudi)7.3
Lymphoma_burkitts(Raji)7.8
MedullaOblongata4.6
OccipitalLobe4.9
OlfactoryBulb4.7
Ovary4.05
Pancreas4.45
PancreaticIslet5.65
ParietalLobe5.95
Pituitary6.85
Placenta5.7
Pons5.5
PrefrontalCortex6.15
Prostate6.25
Salivarygland4.45
SkeletalMuscle8.35
Skin4.5
SmoothMuscle5.85
Spinalcord5.95
SubthalamicNucleus5
SuperiorCervicalGanglion7
TemporalLobe5
Testis5.2
TestisGermCell5.5
TestisIntersitial4.85
TestisLeydigCell6.4
TestisSeminiferousTubule6.65
Thalamus5.3
Thymus4.45
Thyroid6.65
Tongue5.5
Tonsil5.4
Trachea4.65
TrigeminalGanglion6.95
Uterus4.55
UterusCorpus4.85
WholeBlood5.85
Wholebrain4.45
colon5.5
pineal_day6.76
pineal_night6.48
retina6.95
small_intestine5.3
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P254355
  • 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
Amygdala3.6 ± 0.97
Basal Forebrain3.39 ± 0.67
Basal Part of Pons2.7 ± 0.6
Cerebellar Cortex3.06 ± 0.76
Cerebellar Nuclei3.26 ± 0.77
Claustrum4.18 ± 1
Epithalamus2.5 ± 0.82
Frontal Lobe3.04 ± 0.72
Globus Pallidus3.94 ± 0.72
Hypothalamus2.84 ± 0.85
Insula3.1 ± 0.74
Limbic Lobe3.33 ± 0.73
Mesencephalon3.27 ± 0.82
Myelencephalon3.2 ± 0.85
Occipital Lobe3.37 ± 0.9
Parietal Lobe3.28 ± 0.92
Pontine Tegmentum3.31 ± 0.83
Striatum3.32 ± 0.86
Subthalamus3.06 ± 0.49
Temporal Lobe3.08 ± 0.9
Thalamus3.08 ± 0.72
White Matter3.1 ± 0.3
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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