AutismKB 2.0

Annotation Detail for ARNT


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Basic Information Top
Gene Symbol:ARNT ( HIF-1-beta,HIF-1beta,HIF1-beta,HIF1B,HIF1BETA,TANGO,bHLHe2 )
Gene Full Name: aryl hydrocarbon receptor nuclear translocator
Band: 1q21.3
Quick LinksEntrez ID:405; OMIM: 126110; Uniprot ID:ARNT_HUMAN; ENSEMBL ID: ENSG00000143437; HGNC ID: 700
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
blastocyst2 / 6231932
fetus31 / 56401254
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult103 / 193912153
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma3 / 17475171
breast (mammary gland) tumor7 / 9417874
cervical tumor1 / 3436629
chondrosarcoma8 / 8282396
colorectal tumor0 / 1142460 
esophageal tumor1 / 1729057
gastrointestinal tumor1 / 1193698
germ cell tumor12 / 26384545
glioma1 / 1068839
head and neck tumor13 / 13630295
kidney tumor3 / 6895943
leukemia8 / 9584283
liver tumor1 / 9635910
lung tumor1 / 1031279
lymphoma1 / 7175513
non-neoplasia2 / 9725020
normal148 / 336030744
ovarian tumor2 / 7668226
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer6 / 10268058
retinoblastoma5 / 46356107
skin tumor2 / 12494916
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites0 / 400150 
bladder4 / 29757134
blood8 / 12347864
bone4 / 7165555
bone marrow0 / 488010 
brain32 / 110098929
cervix4 / 4817183
connective tissue8 / 14925553
ear0 / 162120 
embryonic tissue3 / 21572213
esophagus1 / 2020949
eye13 / 21105461
heart3 / 8962633
intestine2 / 2344728
kidney14 / 21177766
larynx4 / 24145165
liver6 / 20774328
lung19 / 33697456
lymph0 / 442700 
lymph node5 / 9161054
mammary gland9 / 15327158
mouth7 / 67052104
muscle8 / 10771574
nerve1 / 1576863
ovary2 / 10205119
pancreas8 / 21481237
parathyroid0 / 205390 
pharynx2 / 4132848
pituitary gland0 / 165850 
placenta17 / 28082560
prostate9 / 18934547
salivary gland0 / 201550 
skin6 / 21057428
spleen3 / 5395255
stomach4 / 9661941
testis17 / 33044251
thymus3 / 8113136
thyroid1 / 4747321
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus11 / 23287847
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218222_x_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.4
Adipocyte3.15
AdrenalCortex3.25
Adrenalgland3.15
Amygdala3.35
Appendix3.2
AtrioventricularNode2.4
BDCA4+_DentriticCells3.65
Bonemarrow3.2
BronchialEpithelialCells3.15
CD105+_Endothelial3.2
CD14+_Monocytes3.4
CD19+_BCells(neg._sel.)3.4
CD33+_Myeloid4.85
CD34+4.1
CD4+_Tcells3.45
CD56+_NKCells3.85
CD71+_EarlyErythroid3.1
CD8+_Tcells3.1
CardiacMyocytes4.2
Caudatenucleus2.8
Cerebellum2.6
CerebellumPeduncles3.6
CiliaryGanglion2.15
CingulateCortex3.25
Colorectaladenocarcinoma3.2
DorsalRootGanglion2.4
FetalThyroid3.25
Fetalbrain3.25
Fetalliver2.75
Fetallung2.7
GlobusPallidus2.4
Heart4.05
Hypothalamus3.45
Kidney2.55
Leukemia_chronicMyelogenousK-5622.85
Leukemia_promyelocytic-HL-602.75
Leukemialymphoblastic(MOLT-4)2.55
Liver4.15
Lung3.5
Lymphnode2.85
Lymphoma_burkitts(Daudi)4
Lymphoma_burkitts(Raji)4.45
MedullaOblongata3.3
OccipitalLobe2.8
OlfactoryBulb2.5
Ovary2.1
Pancreas2.55
PancreaticIslet3.4
ParietalLobe3.3
Pituitary3.75
Placenta7.45
Pons3.05
PrefrontalCortex3.95
Prostate3.7
Salivarygland2.5
SkeletalMuscle3.6
Skin2.45
SmoothMuscle4.4
Spinalcord3.85
SubthalamicNucleus2.85
SuperiorCervicalGanglion3.55
TemporalLobe2.9
Testis2.75
TestisGermCell2.7
TestisIntersitial2.65
TestisLeydigCell3.15
TestisSeminiferousTubule2.75
Thalamus3.25
Thymus2.55
Thyroid4
Tongue3.05
Tonsil3.05
Trachea2.65
TrigeminalGanglion3.1
Uterus2.65
UterusCorpus2.85
WholeBlood3.55
Wholebrain2.65
colon3.25
pineal_day4
pineal_night3.88
retina3.975
small_intestine3.1
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P550
  • 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
Amygdala6.21 ± 0.25
Basal Forebrain6.39 ± 0.32
Basal Part of Pons6.18 ± 0.31
Cerebellar Cortex6.5 ± 0.25
Cerebellar Nuclei6.45 ± 0.28
Claustrum6.39 ± 0.7
Epithalamus6.68 ± 0.2
Frontal Lobe6.05 ± 0.41
Globus Pallidus6.42 ± 0.45
Hypothalamus6.38 ± 0.25
Insula6.1 ± 0.29
Limbic Lobe5.97 ± 0.46
Mesencephalon6.35 ± 0.32
Myelencephalon6.2 ± 0.4
Occipital Lobe6.49 ± 0.35
Parietal Lobe6.23 ± 0.37
Pontine Tegmentum6.15 ± 0.37
Striatum5.96 ± 0.42
Subthalamus6.05 ± 0.11
Temporal Lobe6.1 ± 0.38
Thalamus6.32 ± 0.27
White Matter6.89 ± 0.47
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
ARNT_HUMAN_431 10 431 440 SKNQEWLWMR PRIDE
ARNT_HUMAN_503 14 503 516 QQQQQTELDMVPGR PRIDE

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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