AutismKB 2.0

Annotation Detail for TFEB


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Basic Information Top
Gene Symbol:TFEB ( ALPHATFEB,BHLHE35,TCFEB )
Gene Full Name: transcription factor EB
Band: 6p21.1
Quick LinksEntrez ID:7942; OMIM: 600744; Uniprot ID:TFEB_HUMAN; ENSEMBL ID: ENSG00000112561; HGNC ID: 11753
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 
fetus8 / 56401214
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult65 / 193912133
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) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma6 / 8282372
colorectal tumor1 / 1142468
esophageal tumor1 / 1729057
gastrointestinal tumor1 / 1193698
germ cell tumor1 / 2638453
glioma2 / 10688318
head and neck tumor1 / 1363027
kidney tumor0 / 689590 
leukemia31 / 95842323
liver tumor0 / 963590 
lung tumor5 / 10312748
lymphoma17 / 71755236
non-neoplasia1 / 9725010
normal94 / 336030727
ovarian tumor0 / 766820 
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS5 / 12568039
prostate cancer0 / 1026800 
retinoblastoma2 / 4635643
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 
blood3 / 12347824
bone3 / 7165541
bone marrow21 / 48801430
brain21 / 110098919
cervix3 / 4817162
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus1 / 2020949
eye14 / 21105466
heart0 / 896260 
intestine4 / 23447217
kidney7 / 21177733
larynx0 / 241450 
liver0 / 2077430 
lung9 / 33697426
lymph12 / 44270271
lymph node17 / 91610185
mammary gland1 / 1532716
mouth1 / 6705214
muscle4 / 10771537
nerve0 / 157680 
ovary0 / 1020510 
pancreas13 / 21481260
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta13 / 28082546
prostate2 / 18934510
salivary gland0 / 201550 
skin1 / 2105744
spleen3 / 5395255
stomach3 / 9661931
testis0 / 3304420 
thymus0 / 811310 
thyroid0 / 474730 
tonsil1 / 1699958
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 221866_at
Cell line Expression level Expression bar
721_B_lymphoblasts161.55
Adipocyte38
AdrenalCortex44.5
Adrenalgland36.1
Amygdala43.8
Appendix56.3
AtrioventricularNode33.05
BDCA4+_DentriticCells51.05
Bonemarrow42.85
BronchialEpithelialCells34.35
CD105+_Endothelial38.2
CD14+_Monocytes362.45
CD19+_BCells(neg._sel.)538.3
CD33+_Myeloid177.5
CD34+43.8
CD4+_Tcells46.8
CD56+_NKCells132.45
CD71+_EarlyErythroid27.25
CD8+_Tcells35.3
CardiacMyocytes51.5
Caudatenucleus39.55
Cerebellum37.05
CerebellumPeduncles63.65
CiliaryGanglion35.6
CingulateCortex48.75
Colorectaladenocarcinoma42.85
DorsalRootGanglion33.4
FetalThyroid50.95
Fetalbrain38.5
Fetalliver37.9
Fetallung34.7
GlobusPallidus32.05
Heart98.85
Hypothalamus43.25
Kidney36.35
Leukemia_chronicMyelogenousK-56240
Leukemia_promyelocytic-HL-6047.2
Leukemialymphoblastic(MOLT-4)34.95
Liver59.9
Lung49
Lymphnode38.6
Lymphoma_burkitts(Daudi)66
Lymphoma_burkitts(Raji)235.6
MedullaOblongata50.45
OccipitalLobe52.35
OlfactoryBulb37.3
Ovary27.3
Pancreas31.9
PancreaticIslet44.55
ParietalLobe49.1
Pituitary57.35
Placenta51.2
Pons65.3
PrefrontalCortex49.15
Prostate52
Salivarygland49.4
SkeletalMuscle96.65
Skin34.45
SmoothMuscle41.05
Spinalcord55.9
SubthalamicNucleus39.05
SuperiorCervicalGanglion62.15
TemporalLobe51.2
Testis36.85
TestisGermCell35.8
TestisIntersitial37
TestisLeydigCell43.55
TestisSeminiferousTubule36.85
Thalamus44.65
Thymus27.1
Thyroid58.15
Tongue49.5
Tonsil91.8
Trachea38.7
TrigeminalGanglion63.3
Uterus35.55
UterusCorpus58.65
WholeBlood167.55
Wholebrain37.95
colon43.1
pineal_day39.74
pineal_night36.94
retina58.125
small_intestine37.05
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_6520_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
Amygdala2.48 ± 1.06
Basal Forebrain2.5 ± 0.85
Basal Part of Pons2.73 ± 0.91
Cerebellar Cortex2.52 ± 0.54
Cerebellar Nuclei3.18 ± 0.71
Claustrum2.76 ± 0.46
Epithalamus2.36 ± 0.77
Frontal Lobe2.28 ± 0.83
Globus Pallidus4.01 ± 0.39
Hypothalamus2.09 ± 0.9
Insula1.99 ± 0.68
Limbic Lobe2.29 ± 0.88
Mesencephalon2.57 ± 0.86
Myelencephalon2.49 ± 0.87
Occipital Lobe2.91 ± 0.64
Parietal Lobe2.47 ± 0.85
Pontine Tegmentum2.5 ± 0.78
Striatum2.88 ± 0.91
Subthalamus2.51 ± 0.93
Temporal Lobe2.21 ± 0.78
Thalamus2.59 ± 0.65
White Matter4.95 ± 0.4
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
TcfebCBCerebellum4.24
5.25
TcfebCTXCerebral cortex7.41
5.23
TcfebHIPHippocampal region4.7
4.38
TcfebHPFHippocampal formation4.08
3.42
TcfebHYHypothalamus0.85
0.69
TcfebLSXLateral septal complex0.38
0.51
TcfebMBMidbrain1.85
1.79
TcfebMYMedulla3.98
4.47
TcfebOLFOlfactory bulb8.27
6.46
TcfebPPons2.5
2.76
TcfebPALPallidum3.58
2.81
TcfebRHPRetrohippocampal region2.82
1.95
TcfebsAMYStriatum-like amygdalar nuclei3.62
2.49
TcfebSTRStriatum3.92
2.99
TcfebSTRdStriatum dorsal region4.5
3.63
TcfebSTRvStriatum ventral region4.1
2.61
TcfebTHThalamus4.5
4.11
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