AutismKB 2.0

Annotation Detail for TSC2


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Basic Information Top
Gene Symbol:TSC2 ( FLJ43106,LAM,TSC4 )
Gene Full Name: tuberous sclerosis 2
Band: 16p13.3
Quick LinksEntrez ID:7249; OMIM: 191092; Uniprot ID:TSC2_HUMAN; ENSEMBL ID: ENSG00000103197; HGNC ID: 12363
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 body7 / 7076198
blastocyst10 / 62319160
fetus37 / 56401265
neonate1 / 3109732
infant2 / 2362084
juvenile6 / 55556107
adult175 / 193912190
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma2 / 17475114
breast (mammary gland) tumor4 / 9417842
cervical tumor5 / 34366145
chondrosarcoma6 / 8282372
colorectal tumor11 / 11424696
esophageal tumor0 / 172900 
gastrointestinal tumor12 / 119369100
germ cell tumor17 / 26384564
glioma12 / 106883112
head and neck tumor25 / 136302183
kidney tumor6 / 6895987
leukemia7 / 9584273
liver tumor1 / 9635910
lung tumor13 / 103127126
lymphoma27 / 71755376
non-neoplasia8 / 9725082
normal273 / 336030781
ovarian tumor7 / 7668291
pancreatic tumor13 / 104616124
primitive neuroectodermal tumor of the CNS4 / 12568031
prostate cancer10 / 10268097
retinoblastoma6 / 46356129
skin tumor19 / 124949152
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor6 / 9025766
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland4 / 33197120
ascites2 / 4001549
bladder2 / 2975767
blood8 / 12347864
bone3 / 7165541
bone marrow2 / 4880140
brain104 / 110098994
cervix5 / 48171103
connective tissue8 / 14925553
ear1 / 1621261
embryonic tissue19 / 21572288
esophagus0 / 202090 
eye23 / 211054108
heart1 / 8962611
intestine23 / 23447298
kidney14 / 21177766
larynx11 / 24145455
liver2 / 2077439
lung27 / 33697480
lymph26 / 44270587
lymph node15 / 91610163
mammary gland6 / 15327139
mouth13 / 67052193
muscle8 / 10771574
nerve4 / 15768253
ovary11 / 102051107
pancreas20 / 21481293
parathyroid2 / 2053997
pharynx0 / 413280 
pituitary gland2 / 16585120
placenta20 / 28082571
prostate21 / 189345110
salivary gland0 / 201550 
skin28 / 210574132
spleen7 / 53952129
stomach8 / 9661982
testis36 / 330442108
thymus37 / 81131456
thyroid5 / 47473105
tonsil0 / 169990 
trachea5 / 5241395
umbilical cord0 / 136800 
uterus13 / 23287855
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 215735_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts40.75
Adipocyte17.05
AdrenalCortex16
Adrenalgland16.5
Amygdala62.35
Appendix16.1
AtrioventricularNode11.65
BDCA4+_DentriticCells45.55
Bonemarrow15.6
BronchialEpithelialCells13.95
CD105+_Endothelial24.7
CD14+_Monocytes27.3
CD19+_BCells(neg._sel.)20.7
CD33+_Myeloid33.8
CD34+29.85
CD4+_Tcells34.6
CD56+_NKCells48.1
CD71+_EarlyErythroid19.55
CD8+_Tcells55.9
CardiacMyocytes26.2
Caudatenucleus25.4
Cerebellum37.8
CerebellumPeduncles33.3
CiliaryGanglion7.65
CingulateCortex18.2
Colorectaladenocarcinoma26.95
DorsalRootGanglion12.15
FetalThyroid41.45
Fetalbrain66.9
Fetalliver13.75
Fetallung24.25
GlobusPallidus12.55
Heart74.1
Hypothalamus26.1
Kidney12.5
Leukemia_chronicMyelogenousK-56215.15
Leukemia_promyelocytic-HL-6013.45
Leukemialymphoblastic(MOLT-4)24.7
Liver23.9
Lung42.3
Lymphnode18.35
Lymphoma_burkitts(Daudi)19.9
Lymphoma_burkitts(Raji)30.15
MedullaOblongata17.1
OccipitalLobe17.7
OlfactoryBulb12.8
Ovary12.25
Pancreas13.3
PancreaticIslet20.05
ParietalLobe19.5
Pituitary25.65
Placenta19.65
Pons16
PrefrontalCortex42.65
Prostate29.75
Salivarygland12.1
SkeletalMuscle18.2
Skin11.85
SmoothMuscle22.55
Spinalcord16.95
SubthalamicNucleus14.2
SuperiorCervicalGanglion14.8
TemporalLobe15.3
Testis25.65
TestisGermCell64
TestisIntersitial30.85
TestisLeydigCell20.05
TestisSeminiferousTubule28.15
Thalamus24.45
Thymus58.45
Thyroid180.65
Tongue15.2
Tonsil16
Trachea15.75
TrigeminalGanglion13.65
Uterus46
UterusCorpus14.1
WholeBlood23.35
Wholebrain42.15
colon15.65
pineal_day106.28
pineal_night90.68
retina52.05
small_intestine15.3
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_662_PI416408490
  • 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
Amygdala4.39 ± 0.76
Basal Forebrain3.83 ± 0.37
Basal Part of Pons4.12 ± 0.6
Cerebellar Cortex3.79 ± 0.81
Cerebellar Nuclei3.72 ± 0.65
Claustrum4.69 ± 1.01
Epithalamus3.35 ± 0.42
Frontal Lobe3.83 ± 0.61
Globus Pallidus3.95 ± 0.51
Hypothalamus3.14 ± 0.97
Insula3.68 ± 0.32
Limbic Lobe4.11 ± 0.6
Mesencephalon3.99 ± 0.57
Myelencephalon3.92 ± 0.69
Occipital Lobe4.25 ± 0.71
Parietal Lobe3.97 ± 0.72
Pontine Tegmentum3.9 ± 0.8
Striatum4.18 ± 0.58
Subthalamus3.34 ± 0.49
Temporal Lobe3.81 ± 0.7
Thalamus4 ± 0.61
White Matter5.07 ± 0.84
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Tsc2CBCerebellum48.92
30.33
Tsc2CTXCerebral cortex50.43
46.1
Tsc2HIPHippocampal region46.37
53.09
Tsc2HPFHippocampal formation55.32
52.02
Tsc2HYHypothalamus50.09
29.63
Tsc2LSXLateral septal complex50.09
31.78
Tsc2MBMidbrain35.26
24.86
Tsc2MYMedulla45.55
36.78
Tsc2OLFOlfactory bulb50.52
50.29
Tsc2PPons30.65
26.52
Tsc2PALPallidum45.98
31.3
Tsc2RHPRetrohippocampal region50.43
50.21
Tsc2sAMYStriatum-like amygdalar nuclei50.13
32.85
Tsc2STRStriatum50.31
31.8
Tsc2STRdStriatum dorsal region50.43
29.71
Tsc2STRvStriatum ventral region50.12
37.53
Tsc2THThalamus43.19
28.34
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00097033 25 382 406 TIVHDLLTTVEELCDQNEFHGSQER 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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