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
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