AutismKB 2.0

Annotation Detail for TSC1


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Basic Information Top
Gene Symbol:TSC1 ( KIAA0243,LAM,MGC86987,TSC )
Gene Full Name: tuberous sclerosis 1
Band: 9q34
Quick LinksEntrez ID:7248; OMIM: 605284; Uniprot ID:TSC1_HUMAN; ENSEMBL ID: ENSG00000165699; HGNC ID: 12362
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 body2 / 7076128
blastocyst3 / 6231948
fetus34 / 56401260
neonate1 / 3109732
infant0 / 236200 
juvenile2 / 5555635
adult119 / 193912161
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma2 / 17475114
breast (mammary gland) tumor14 / 94178148
cervical tumor0 / 343660 
chondrosarcoma4 / 8282348
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor22 / 26384583
glioma3 / 10688328
head and neck tumor5 / 13630236
kidney tumor1 / 6895914
leukemia3 / 9584231
liver tumor1 / 9635910
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia6 / 9725061
normal155 / 336030746
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS4 / 12568031
prostate cancer1 / 1026809
retinoblastoma1 / 4635621
skin tumor1 / 1249498
soft tissue/muscle tissue tumor6 / 12519147
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland1 / 3319730
ascites1 / 4001524
bladder2 / 2975767
blood1 / 1234788
bone4 / 7165555
bone marrow0 / 488010 
brain80 / 110098972
cervix0 / 481710 
connective tissue4 / 14925526
ear0 / 162120 
embryonic tissue7 / 21572232
esophagus0 / 202090 
eye17 / 21105480
heart4 / 8962644
intestine4 / 23447217
kidney10 / 21177747
larynx1 / 2414541
liver4 / 20774319
lung15 / 33697444
lymph0 / 442700 
lymph node6 / 9161065
mammary gland16 / 153271104
mouth1 / 6705214
muscle7 / 10771564
nerve0 / 157680 
ovary1 / 1020519
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta8 / 28082528
prostate5 / 18934526
salivary gland0 / 201550 
skin8 / 21057437
spleen6 / 53952111
stomach3 / 9661931
testis21 / 33044263
thymus2 / 8113124
thyroid3 / 4747363
tonsil1 / 1699958
trachea4 / 5241376
umbilical cord0 / 136800 
uterus10 / 23287842
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 209390_at
Cell line Expression level Expression bar
721_B_lymphoblasts93.55
Adipocyte67.25
AdrenalCortex79.35
Adrenalgland52.9
Amygdala228.55
Appendix71.6
AtrioventricularNode38.8
BDCA4+_DentriticCells109.25
Bonemarrow71.15
BronchialEpithelialCells44.95
CD105+_Endothelial58.9
CD14+_Monocytes81.6
CD19+_BCells(neg._sel.)88.25
CD33+_Myeloid241.05
CD34+195.25
CD4+_Tcells342
CD56+_NKCells75.8
CD71+_EarlyErythroid80.2
CD8+_Tcells231.05
CardiacMyocytes67.8
Caudatenucleus160.8
Cerebellum131.45
CerebellumPeduncles159.1
CiliaryGanglion24.35
CingulateCortex224.2
Colorectaladenocarcinoma91.5
DorsalRootGanglion35.05
FetalThyroid101.35
Fetalbrain248.15
Fetalliver118.4
Fetallung94.2
GlobusPallidus95.75
Heart65.75
Hypothalamus192.8
Kidney37.05
Leukemia_chronicMyelogenousK-562106.65
Leukemia_promyelocytic-HL-6090.75
Leukemialymphoblastic(MOLT-4)61.95
Liver69.55
Lung50.3
Lymphnode87.35
Lymphoma_burkitts(Daudi)186.6
Lymphoma_burkitts(Raji)122.2
MedullaOblongata126.15
OccipitalLobe160.2
OlfactoryBulb86.95
Ovary44
Pancreas43.8
PancreaticIslet88.95
ParietalLobe156.25
Pituitary174.8
Placenta62.85
Pons143.5
PrefrontalCortex396.2
Prostate149.9
Salivarygland53.65
SkeletalMuscle71.15
Skin35.5
SmoothMuscle57.7
Spinalcord129.85
SubthalamicNucleus132.95
SuperiorCervicalGanglion96.15
TemporalLobe104.2
Testis134.25
TestisGermCell93.75
TestisIntersitial68.9
TestisLeydigCell64.5
TestisSeminiferousTubule61.9
Thalamus115.45
Thymus64.45
Thyroid171.5
Tongue64.35
Tonsil109.6
Trachea39.85
TrigeminalGanglion112.5
Uterus109.65
UterusCorpus67
WholeBlood60.75
Wholebrain143.95
colon67.8
pineal_day326.36
pineal_night195.94
retina174.6
small_intestine42.7
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_1305_PI416573500
  • 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
Amygdala6.44 ± 0.38
Basal Forebrain6.5 ± 0.21
Basal Part of Pons6.27 ± 0.31
Cerebellar Cortex6.45 ± 0.32
Cerebellar Nuclei6.33 ± 0.24
Claustrum6.81 ± 0.46
Epithalamus5.98 ± 0.45
Frontal Lobe6.16 ± 0.4
Globus Pallidus6.21 ± 0.25
Hypothalamus6.23 ± 0.38
Insula6.25 ± 0.24
Limbic Lobe6.29 ± 0.39
Mesencephalon6.29 ± 0.42
Myelencephalon6.29 ± 0.35
Occipital Lobe6.44 ± 0.32
Parietal Lobe6.34 ± 0.38
Pontine Tegmentum6.25 ± 0.45
Striatum6.15 ± 0.42
Subthalamus6.66 ± 0.34
Temporal Lobe6.29 ± 0.36
Thalamus6.23 ± 0.32
White Matter6.98 ± 0.43
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Tsc1CBCerebellum3.86
3.96
Tsc1CTXCerebral cortex10.81
6.83
Tsc1HIPHippocampal region7.43
6.06
Tsc1HPFHippocampal formation7.59
5.73
Tsc1HYHypothalamus4.86
3.32
Tsc1LSXLateral septal complex4.64
2.68
Tsc1MBMidbrain5.61
4.68
Tsc1MYMedulla11.8
12.01
Tsc1OLFOlfactory bulb9.84
7.6
Tsc1PPons7.47
7.36
Tsc1PALPallidum5.61
4.31
Tsc1RHPRetrohippocampal region8
5.29
Tsc1sAMYStriatum-like amygdalar nuclei3
1.75
Tsc1STRStriatum3.21
2.02
Tsc1STRdStriatum dorsal region2.79
1.83
Tsc1STRvStriatum ventral region4.16
2.41
Tsc1THThalamus4.45
3.38
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00501418 24 519 542 THSAASSSQGASVNPEPLHSSLDK Peptide Atlas
TSC1_HUMAN_317 20 317 336 LMLLNMPGQLPQTLSSPSTR PRIDE
TSC1_HUMAN_435 8 435 442 QHHLLNDR PRIDE
TSC1_HUMAN_893 9 893 901 SHVLQQTQR PRIDE

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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