AutismKB 2.0

Annotation Detail for MTOR


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Basic Information Top
Gene Symbol:MTOR ( FLJ44809,FRAP,FRAP1,FRAP2,RAFT1,RAPT1 )
Gene Full Name: mechanistic target of rapamycin (serine/threonine kinase)
Band: 1p36.22
Quick LinksEntrez ID:2475; OMIM: 601231; Uniprot ID:MTOR_HUMAN; ENSEMBL ID: ENSG00000198793; HGNC ID: 3942
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
blastocyst4 / 6231964
fetus42 / 56401274
neonate0 / 310970 
infant0 / 236200 
juvenile3 / 5555653
adult115 / 193912159
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) tumor3 / 9417831
cervical tumor2 / 3436658
chondrosarcoma6 / 8282372
colorectal tumor6 / 11424652
esophageal tumor1 / 1729057
gastrointestinal tumor2 / 11936916
germ cell tumor6 / 26384522
glioma7 / 10688365
head and neck tumor12 / 13630288
kidney tumor5 / 6895972
leukemia18 / 95842187
liver tumor8 / 9635983
lung tumor5 / 10312748
lymphoma4 / 7175555
non-neoplasia8 / 9725082
normal212 / 336030763
ovarian tumor5 / 7668265
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer4 / 10268038
retinoblastoma5 / 46356107
skin tumor6 / 12494948
soft tissue/muscle tissue tumor6 / 12519147
uterine tumor8 / 9025788
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue3 / 13106228
adrenal gland0 / 331970 
ascites2 / 4001549
bladder0 / 297570 
blood5 / 12347840
bone7 / 7165597
bone marrow4 / 4880181
brain41 / 110098937
cervix2 / 4817141
connective tissue4 / 14925526
ear0 / 162120 
embryonic tissue6 / 21572227
esophagus1 / 2020949
eye17 / 21105480
heart3 / 8962633
intestine11 / 23447246
kidney8 / 21177737
larynx2 / 2414582
liver12 / 20774357
lung16 / 33697447
lymph3 / 4427067
lymph node21 / 91610229
mammary gland8 / 15327152
mouth6 / 6705289
muscle6 / 10771555
nerve0 / 157680 
ovary5 / 10205148
pancreas2 / 2148129
parathyroid3 / 20539146
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta14 / 28082549
prostate10 / 18934552
salivary gland0 / 201550 
skin43 / 210574204
spleen1 / 5395218
stomach0 / 966190 
testis32 / 33044296
thymus4 / 8113149
thyroid5 / 47473105
tonsil0 / 169990 
trachea3 / 5241357
umbilical cord0 / 136800 
uterus19 / 23287881
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202288_at
Cell line Expression level Expression bar
721_B_lymphoblasts28.2
Adipocyte18.25
AdrenalCortex21.85
Adrenalgland15.35
Amygdala19.6
Appendix18.3
AtrioventricularNode13.65
BDCA4+_DentriticCells20.15
Bonemarrow16.05
BronchialEpithelialCells18.4
CD105+_Endothelial18.75
CD14+_Monocytes19.55
CD19+_BCells(neg._sel.)19.65
CD33+_Myeloid24.3
CD34+29.1
CD4+_Tcells22.15
CD56+_NKCells44.55
CD71+_EarlyErythroid20.4
CD8+_Tcells19.35
CardiacMyocytes22.45
Caudatenucleus18.4
Cerebellum15.15
CerebellumPeduncles21.15
CiliaryGanglion12.45
CingulateCortex19
Colorectaladenocarcinoma18.3
DorsalRootGanglion12.65
FetalThyroid17.85
Fetalbrain18.3
Fetalliver15.7
Fetallung13.75
GlobusPallidus14.4
Heart22.95
Hypothalamus22.25
Kidney15.2
Leukemia_chronicMyelogenousK-56220.9
Leukemia_promyelocytic-HL-6018.7
Leukemialymphoblastic(MOLT-4)15.4
Liver23.8
Lung17.4
Lymphnode16
Lymphoma_burkitts(Daudi)23.7
Lymphoma_burkitts(Raji)25.5
MedullaOblongata18.05
OccipitalLobe17.55
OlfactoryBulb14.45
Ovary11.95
Pancreas14.35
PancreaticIslet19.2
ParietalLobe19.5
Pituitary24.45
Placenta19.05
Pons17.4
PrefrontalCortex27.95
Prostate18.65
Salivarygland14.5
SkeletalMuscle21.05
Skin13.7
SmoothMuscle20.75
Spinalcord25.05
SubthalamicNucleus21.05
SuperiorCervicalGanglion20.4
TemporalLobe16.9
Testis24.4
TestisGermCell17.45
TestisIntersitial16.6
TestisLeydigCell25.8
TestisSeminiferousTubule30.8
Thalamus32.6
Thymus14.7
Thyroid16.6
Tongue17.7
Tonsil17.9
Trachea15.35
TrigeminalGanglion16.05
Uterus14.65
UterusCorpus16.3
WholeBlood16.55
Wholebrain16
colon18.75
pineal_day28.04
pineal_night28
retina22.575
small_intestine18.15
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_16362_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
Amygdala6.19 ± 0.26
Basal Forebrain6.12 ± 0.11
Basal Part of Pons6.28 ± 0.28
Cerebellar Cortex6.18 ± 0.3
Cerebellar Nuclei6.45 ± 0.28
Claustrum6.48 ± 0.4
Epithalamus6.16 ± 0.26
Frontal Lobe6.24 ± 0.33
Globus Pallidus5.98 ± 0.31
Hypothalamus6.2 ± 0.33
Insula6.22 ± 0.4
Limbic Lobe6.35 ± 0.35
Mesencephalon6.32 ± 0.41
Myelencephalon6.28 ± 0.32
Occipital Lobe6.38 ± 0.28
Parietal Lobe6.35 ± 0.27
Pontine Tegmentum6.29 ± 0.26
Striatum6.53 ± 0.26
Subthalamus6.32 ± 0.55
Temporal Lobe6.37 ± 0.28
Thalamus6.42 ± 0.29
White Matter5.78 ± 0.65
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Frap1CBCerebellum20.34
27.66
Frap1CTXCerebral cortex20.07
13.07
Frap1HIPHippocampal region16.59
15.71
Frap1HPFHippocampal formation16.64
13.89
Frap1HYHypothalamus36.73
24.59
Frap1LSXLateral septal complex0
0
Frap1MBMidbrain9.32
13.75
Frap1MYMedulla9.59
10.38
Frap1OLFOlfactory bulb13.08
8.4
Frap1PPons9.87
9.69
Frap1PALPallidum19.9
20.2
Frap1RHPRetrohippocampal region17.49
11.12
Frap1sAMYStriatum-like amygdalar nuclei8.66
5.7
Frap1STRStriatum7
4.97
Frap1STRdStriatum dorsal region5.87
4.26
Frap1STRvStriatum ventral region8.74
6.07
Frap1THThalamus14.98
11.25
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00026355 27 399 425 LAAFRPSAFTDTQYLQDTMNHVLSCVK Peptide Atlas

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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