Basic information

Full name
TSC complex subunit 2
Ensembl
ENSG00000103197.18
Summary
Mutations in this gene lead to tuberous sclerosis complex. Its gene product is believed to be a tumor suppressor and is able to stimulate specific GTPases. The protein associates with hamartin in a cytosolic complex, possibly acting as a chaperone for hamartin. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Annotation
Cancer driver (TSG)

Protein product

  • ENST00000219476.9 Primary ENSP00000219476.3 (57 phosphosites)
  • ENST00000642797.1
  • ENST00000401874.7
  • ENST00000644335.1
  • ENST00000643088.1
  • ENST00000439673.6
  • ENST00000382538.10
  • ENST00000646388.1
  • ENST00000350773.9
  • ENST00000643946.1
  • ENST00000644329.1
  • ENST00000644043.1
  • ENST00000642936.1
  • ENST00000642561.1
  • ENST00000568454.6
Phosphosites on the primary protein product
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Tumor and normal comparison

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Signed p-values
Data type
Meta P
BRCA
CCRCC
COAD
GBM
HNSCC
LSCC
LUAD
OV
PDAC
UCEC
RNA-3.2e-5--1e-13---0.022-2.3e-51e-12--0.014-
protein-1.1e-22--2.9e-14-3.5e-9-6.6e-3-3.5e-20-0.82-3.1e-5-0.13-0.069

* P-values are from Wilcoxon rank sum test and can be clicked to show the box plots. Positive values mean higher abundance in tumor. BRCA and GBM do not have normal samples.

mRNA expression at gene level
BRCACCRCCCOADGBMHNSCCLSCCLUADOVPDACUCEC67891011121314log2(RSEM+1)tumornormal
Protein expression
BRCACCRCCCOADGBMHNSCCLSCCLUADOVPDACUCEC19.52020.52121.52222.52323.52424.525log2(MS1 intensity)tumornormal

* Mild outlier: filled circle; Extreme outlier: empty circle.

Phenotype and mutation association

Manhattan plot summarizing associations of phenotypes and mutations across all cohorts and omics data types

BRCACCRCCCOADGBMHNSCCLSCCLUADOVPDACUCEC02468101214161820220-2-4-6-8-10-12-14-16-18-20-22Pan-cancer05101520253035400-5-10-15-20-25-30-35-40proteinRNASCNVclinicalpathwaycell typegenomicmutation-log10 of P-value

* Data points of significant associations above and below the dotted lines can be hovered to show the phenotype.

Associations of the protein abundance of TSC2 with phenotypes and mutations

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Signed p-values
Phenotype
Meta P
BRCA
CCRCC
COAD
GBM
HNSCC
LSCC
LUAD
OV
PDAC
UCEC
PROGENy: Trail2.1e-80.550.170.0410.058-0.873.6e-70.0730.0520.130.1
DISEASE-PSP_Alzheimer's_disease1.3e-5---2.7e-9-----0.83
xcell: Macrophage M21.3e-50.023.2e-30.98-0.410.313.6e-60.54-0.92.5e-4-0.62
xcell: T cell CD8+ effector memory4.7e-5-0.520.030.0520.190.029.0e-40.930.027-0.470.4
xcell: stroma score1.3e-42.6e-3-0.20.099-0.0280.255.8e-50.210.210.872.3e-3
xcell: Cancer associated fibroblast1.9e-40.11-0.0130.12-0.990.277.5e-50.0740.270.842.6e-3
xcell: microenvironment score2.7e-40.79-0.620.063-1.8e-30.0582.7e-90.270.180.40.059
xcell: Hematopoietic stem cell3.0e-40.14-0.410.270.96-0.716.6e-30.0310.670.0644.2e-3
cibersort: Mast cell activated6.8e-41.4e-4-0.26-0.830.64-0.68-0.586.9e-70.280.60.026
HALLMARK_BILE_ACID_METABOLISM8.7e-40.0044.1e-5-0.35-0.81-0.0474.5e-30.052-0.230.120.12
Showing 1 to 10 of 256 rows

* P-values could be from test for Spearman correlation, Wilcoxon rank sum test, Jonckheere-Terpstra trend test or Cox regression depending on the data type. P-values for individual cohorts can be clicked to show the data plots. The matrix icons in each row can be clicked to show a heatmap summary of associations across all cohorts and omics. The rows in the table can be expanded to show results from other omics.

Cis-association

Associations between omics data of TSC2

BRCA0.320.170.56proteinmRNASCNVmethylationCCRCC-0.110.09-0.04-0.190.260.01proteinmRNASCNVmethylationCOAD-0.160.110.20proteinmRNASCNVmethylationGBM0.27-0.080.03-0.080.18-0.20proteinmRNASCNVmethylationHNSCC-0.09-0.05-0.01-0.160.26-0.04proteinmRNASCNVmethylationLSCC0.140.030.220.120.36-0.02proteinmRNASCNVmethylationLUAD0.26-0.020.050.090.610.15proteinmRNASCNVmethylationOV0.260.200.27proteinmRNASCNVmethylationPDAC-0.07-0.030.12-0.130.36-0.14proteinmRNASCNVmethylationUCEC0.08-0.070.03-0.190.070.05proteinmRNASCNVmethylation

* The numbers are Spearman correlation coefficients and can be clicked to show the scatter plots. The color and size of the circles correlate with the coefficients.

Trans-association

Associations of the protein abundance of TSC2 and the protein abundance of other genes

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Signed p-values
Gene
Meta P
BRCA
CCRCC
COAD
GBM
HNSCC
LSCC
LUAD
OV
PDAC
UCEC
No matching records found

* P-values are from test for Spearman correlation. P-values for individual cohorts can be clicked to show the data plots. The matrix icons in each row can be clicked to show a heatmap summary of associations across all cohorts and omics. The rows in the table can be expanded to show results from other omics.

Gene set enrichment analysis

Submit genes and the common logarithm of the p-values of their association with to WebGestalt.