AutismKB 2.0

Annotation Detail for TFE3


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Basic Information Top
Gene Symbol:TFE3 ( RCCP2,TFEA,bHLHe33 )
Gene Full Name: transcription factor binding to IGHM enhancer 3
Band: Xp11.23
Quick LinksEntrez ID:7030; OMIM: 314310; Uniprot ID:TFE3_HUMAN; ENSEMBL ID: ENSG00000068323; HGNC ID: 11752
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 body10 / 70761141
blastocyst6 / 6231996
fetus16 / 56401228
neonate1 / 3109732
infant0 / 236200 
juvenile3 / 5555653
adult95 / 193912148
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) tumor1 / 9417810
cervical tumor3 / 3436687
chondrosarcoma12 / 82823144
colorectal tumor7 / 11424661
esophageal tumor0 / 172900 
gastrointestinal tumor10 / 11936983
germ cell tumor6 / 26384522
glioma7 / 10688365
head and neck tumor5 / 13630236
kidney tumor4 / 6895958
leukemia4 / 9584241
liver tumor3 / 9635931
lung tumor9 / 10312787
lymphoma4 / 7175555
non-neoplasia2 / 9725020
normal123 / 336030736
ovarian tumor4 / 7668252
pancreatic tumor8 / 10461676
primitive neuroectodermal tumor of the CNS7 / 12568055
prostate cancer2 / 10268019
retinoblastoma1 / 4635621
skin tumor10 / 12494980
soft tissue/muscle tissue tumor8 / 12519163
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland2 / 3319760
ascites2 / 4001549
bladder0 / 297570 
blood3 / 12347824
bone4 / 7165555
bone marrow1 / 4880120
brain38 / 110098934
cervix3 / 4817162
connective tissue4 / 14925526
ear0 / 162120 
embryonic tissue20 / 21572292
esophagus0 / 202090 
eye9 / 21105442
heart6 / 8962666
intestine11 / 23447246
kidney6 / 21177728
larynx2 / 2414582
liver4 / 20774319
lung34 / 336974100
lymph3 / 4427067
lymph node1 / 9161010
mammary gland4 / 15327126
mouth3 / 6705244
muscle1 / 1077159
nerve3 / 15768190
ovary5 / 10205148
pancreas13 / 21481260
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta11 / 28082539
prostate4 / 18934521
salivary gland0 / 201550 
skin15 / 21057471
spleen2 / 5395237
stomach5 / 9661951
testis8 / 33044224
thymus1 / 8113112
thyroid1 / 4747321
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus17 / 23287872
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 206649_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts21.75
Adipocyte65.45
AdrenalCortex46.8
Adrenalgland47.85
Amygdala32.45
Appendix32.05
AtrioventricularNode21.3
BDCA4+_DentriticCells19.55
Bonemarrow29.25
BronchialEpithelialCells30
CD105+_Endothelial19.95
CD14+_Monocytes30.95
CD19+_BCells(neg._sel.)16.3
CD33+_Myeloid34
CD34+18.35
CD4+_Tcells15.4
CD56+_NKCells13.95
CD71+_EarlyErythroid18.05
CD8+_Tcells12.95
CardiacMyocytes36.85
Caudatenucleus43.35
Cerebellum58.15
CerebellumPeduncles42.4
CiliaryGanglion15.8
CingulateCortex54.25
Colorectaladenocarcinoma39.2
DorsalRootGanglion21.65
FetalThyroid37.55
Fetalbrain34.25
Fetalliver25.9
Fetallung33.55
GlobusPallidus37.75
Heart31.5
Hypothalamus33.7
Kidney47.8
Leukemia_chronicMyelogenousK-56228.8
Leukemia_promyelocytic-HL-6023.55
Leukemialymphoblastic(MOLT-4)24.3
Liver24.65
Lung33.4
Lymphnode39.25
Lymphoma_burkitts(Daudi)30.5
Lymphoma_burkitts(Raji)35.65
MedullaOblongata28.05
OccipitalLobe27.2
OlfactoryBulb31.85
Ovary20.95
Pancreas25.95
PancreaticIslet46.15
ParietalLobe35.5
Pituitary44.1
Placenta68
Pons25.85
PrefrontalCortex50.4
Prostate31.15
Salivarygland18.1
SkeletalMuscle33.85
Skin21.6
SmoothMuscle38.15
Spinalcord45.75
SubthalamicNucleus37
SuperiorCervicalGanglion34.9
TemporalLobe29.8
Testis26.1
TestisGermCell15.85
TestisIntersitial16.5
TestisLeydigCell20.2
TestisSeminiferousTubule22.7
Thalamus35.55
Thymus22.8
Thyroid37.85
Tongue22.15
Tonsil29
Trachea25.9
TrigeminalGanglion20.25
Uterus22.95
UterusCorpus30.7
WholeBlood88.85
Wholebrain25.2
colon21.8
pineal_day36.52
pineal_night35.12
retina41.55
small_intestine28.15
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_12261_PI416261804
  • 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
Amygdala2.92 ± 0.81
Basal Forebrain2.44 ± 0.22
Basal Part of Pons2.47 ± 0.67
Cerebellar Cortex2.52 ± 0.67
Cerebellar Nuclei2.53 ± 0.75
Claustrum2.88 ± 0.91
Epithalamus2.51 ± 0.59
Frontal Lobe2.54 ± 0.68
Globus Pallidus2.87 ± 0.66
Hypothalamus2.4 ± 0.93
Insula2.72 ± 0.71
Limbic Lobe2.65 ± 0.61
Mesencephalon2.73 ± 0.76
Myelencephalon2.57 ± 0.64
Occipital Lobe2.75 ± 0.75
Parietal Lobe2.61 ± 0.66
Pontine Tegmentum2.66 ± 0.68
Striatum2.74 ± 0.74
Subthalamus2.68 ± 0.88
Temporal Lobe2.55 ± 0.64
Thalamus2.52 ± 0.61
White Matter1.68 ± 0.54
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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