TSC1 | OmnibusX

Name	Number of supported studies	Average coverage
endothelial cell	6 studies	27% ± 11%	Explore
glutamatergic neuron	6 studies	44% ± 27%	Explore
interneuron	6 studies	34% ± 23%	Explore
GABAergic neuron	6 studies	40% ± 21%	Explore
oligodendrocyte	6 studies	26% ± 6%	Explore
epithelial cell	5 studies	26% ± 8%	Explore
astrocyte	5 studies	33% ± 10%	Explore
neuron	4 studies	23% ± 11%	Explore
oligodendrocyte precursor cell	4 studies	32% ± 9%	Explore
macrophage	4 studies	18% ± 2%	Explore
GABAergic interneuron	3 studies	19% ± 4%	Explore
microglial cell	3 studies	21% ± 2%	Explore

II. Expression across tissues

Name	Number of supported studies	Average coverage
brain	8 studies	36% ± 19%	Explore

Tissue	GTEx Coverage	GTEx Average TPM	GTEx Number of samples	TCGA Coverage	TCGA Average TPM	TCGA Number of samples
esophagus	100%	4078.27	1445 / 1445	100%	8.97	183 / 183
prostate	100%	5499.84	245 / 245	100%	8.18	502 / 502
brain	100%	5755.52	2635 / 2642	100%	13.89	705 / 705
breast	100%	4985.80	459 / 459	100%	8.66	1113 / 1118
thymus	100%	7181.17	653 / 653	99%	8.71	601 / 605
stomach	100%	3739.76	359 / 359	99%	6.54	283 / 286
intestine	100%	4941.63	966 / 966	99%	6.41	521 / 527
uterus	100%	5930.03	170 / 170	98%	7.12	452 / 459
kidney	100%	4597.34	89 / 89	98%	8.39	887 / 901
bladder	100%	4450.95	21 / 21	98%	6.27	496 / 504
skin	100%	5462.79	1809 / 1809	98%	7.46	464 / 472
pancreas	99%	2783.87	326 / 328	99%	6.73	176 / 178
lung	100%	4513.98	577 / 578	98%	6.96	1134 / 1155
adrenal gland	100%	5467.51	258 / 258	98%	8.39	225 / 230
ovary	100%	6692.97	180 / 180	94%	5.27	405 / 430
liver	100%	2211.27	225 / 226	77%	3.41	313 / 406
adipose	100%	4328.19	1204 / 1204	0%	0	0 / 0
lymph node	0%	0	0 / 0	100%	6.73	29 / 29
spleen	100%	5908.84	241 / 241	0%	0	0 / 0
tonsil	0%	0	0 / 0	100%	7.17	45 / 45
ureter	0%	0	0 / 0	100%	4.81	1 / 1
blood vessel	100%	3811.56	1334 / 1335	0%	0	0 / 0
muscle	100%	3429.76	802 / 803	0%	0	0 / 0
heart	98%	3057.09	844 / 861	0%	0	0 / 0
eye	0%	0	0 / 0	98%	7.63	78 / 80
peripheral blood	80%	1720.19	739 / 929	0%	0	0 / 0
abdomen	0%	0	0 / 0	0%	0	0 / 0
bone marrow	0%	0	0 / 0	0%	0	0 / 0
diaphragm	0%	0	0 / 0	0%	0	0 / 0
gingiva	0%	0	0 / 0	0%	0	0 / 0
nasal cavity	0%	0	0 / 0	0%	0	0 / 0
nasopharynx	0%	0	0 / 0	0%	0	0 / 0
nose	0%	0	0 / 0	0%	0	0 / 0
placenta	0%	0	0 / 0	0%	0	0 / 0
spinal column	0%	0	0 / 0	0%	0	0 / 0

III. Associated gene sets

GO_0006813	Biological process	potassium ion transport
GO_0008285	Biological process	negative regulation of cell population proliferation
GO_0021766	Biological process	hippocampus development
GO_0008283	Biological process	cell population proliferation
GO_0016242	Biological process	negative regulation of macroautophagy
GO_0000054	Biological process	ribosomal subunit export from nucleus
GO_0042552	Biological process	myelination
GO_0090630	Biological process	activation of GTPase activity
GO_0007160	Biological process	cell-matrix adhesion
GO_0008344	Biological process	adult locomotory behavior
GO_0055007	Biological process	cardiac muscle cell differentiation
GO_0032007	Biological process	negative regulation of TOR signaling
GO_0032868	Biological process	response to insulin
GO_0001822	Biological process	kidney development
GO_0008306	Biological process	associative learning
GO_0030030	Biological process	cell projection organization
GO_0009267	Biological process	cellular response to starvation
GO_0001952	Biological process	regulation of cell-matrix adhesion
GO_0032780	Biological process	negative regulation of ATP-dependent activity
GO_0043666	Biological process	regulation of phosphoprotein phosphatase activity
GO_0036294	Biological process	cellular response to decreased oxygen levels
GO_0006417	Biological process	regulation of translation
GO_0002250	Biological process	adaptive immune response
GO_0006457	Biological process	protein folding
GO_0050821	Biological process	protein stabilization
GO_0051492	Biological process	regulation of stress fiber assembly
GO_0051894	Biological process	positive regulation of focal adhesion assembly
GO_0001843	Biological process	neural tube closure
GO_0021987	Biological process	cerebral cortex development
GO_0046323	Biological process	glucose import
GO_0017148	Biological process	negative regulation of translation
GO_0045792	Biological process	negative regulation of cell size
GO_0050808	Biological process	synapse organization
GO_1904262	Biological process	negative regulation of TORC1 signaling
GO_0051726	Biological process	regulation of cell cycle
GO_0043379	Biological process	memory T cell differentiation
GO_0005886	Cellular component	plasma membrane
GO_0005811	Cellular component	lipid droplet
GO_0016020	Cellular component	membrane
GO_0048471	Cellular component	perinuclear region of cytoplasm
GO_0032991	Cellular component	protein-containing complex
GO_0005884	Cellular component	actin filament
GO_0101031	Cellular component	protein folding chaperone complex
GO_0033596	Cellular component	TSC1-TSC2 complex
GO_0005829	Cellular component	cytosol
GO_0005938	Cellular component	cell cortex
GO_0014069	Cellular component	postsynaptic density
GO_0005737	Cellular component	cytoplasm
GO_0030027	Cellular component	lamellipodium
GO_0005765	Cellular component	lysosomal membrane
GO_0005634	Cellular component	nucleus
GO_0051879	Molecular function	Hsp90 protein binding
GO_0044183	Molecular function	protein folding chaperone
GO_0051087	Molecular function	protein-folding chaperone binding
GO_0042030	Molecular function	ATPase inhibitor activity
GO_0030544	Molecular function	Hsp70 protein binding
GO_0005515	Molecular function	protein binding

IV. Literature review

[source]

Gene name	TSC1
Protein name	Tuberous sclerosis 1 protein Tuberous sclerosis 1 isoform A Truncated hemartin Hamartin TSC complex subunit 1 (Tumor suppressor) TSC complex subunit 1 (Tuberous sclerosis 1) Tuberous sclerosis 1 TSC1 protein TSC complex subunit 1 Hamartin (Tuberous sclerosis 1 protein)
Synonyms	TSC KIAA0243
Description	FUNCTION: Non-catalytic component of the TSC-TBC complex, a multiprotein complex that acts as a negative regulator of the canonical mTORC1 complex, an evolutionarily conserved central nutrient sensor that stimulates anabolic reactions and macromolecule biosynthesis to promote cellular biomass generation and growth . The TSC-TBC complex acts as a GTPase-activating protein (GAP) for the small GTPase RHEB, a direct activator of the protein kinase activity of mTORC1 . In absence of nutrients, the TSC-TBC complex inhibits mTORC1, thereby preventing phosphorylation of ribosomal protein S6 kinase (RPS6KB1 and RPS6KB2) and EIF4EBP1 (4E-BP1) by the mTORC1 signaling . The TSC-TBC complex is inactivated in response to nutrients, relieving inhibition of mTORC1 . Within the TSC-TBC complex, TSC1 stabilizes TSC2 and prevents TSC2 self-aggregation . Acts as a tumor suppressor . Involved in microtubule-mediated protein transport via its ability to regulate mTORC1 signaling (By similarity). Also acts as a co-chaperone for HSP90AA1 facilitating HSP90AA1 chaperoning of protein clients such as kinases, TSC2 and glucocorticoid receptor NR3C1 . Increases ATP binding to HSP90AA1 and inhibits HSP90AA1 ATPase activity . Competes with the activating co-chaperone AHSA1 for binding to HSP90AA1, thereby providing a reciprocal regulatory mechanism for chaperoning of client proteins . Recruits TSC2 to HSP90AA1 and stabilizes TSC2 by preventing the interaction between TSC2 and ubiquitin ligase HERC1 . .
Accessions	ENST00000643072.1 [Q92574-2] ENST00000644255.1 ENST00000647279.1 ENST00000643625.2 ENST00000646440.1 ENST00000490179.4 [Q92574-1] A0A2R8Y5F8 ENST00000644184.2 A0A2R8Y6N1 ENST00000645129.2 ENST00000545250.5 [Q92574-2] ENST00000643583.1 ENST00000403810.6 ENST00000646440.2 [Q92574-1] A0A2R8Y7E9 ENST00000298552.9 [Q92574-1] A0A2Z3J3Z0 ENST00000475903.7 ENST00000642811.1 X5D9D2 ENST00000642745.1 A0A2R8Y5N2 A0A2R8YFV7 Q59IT9 Q0VAM5 A0A2R8Y6S1 ENST00000643691.2 Q32NF0 A0A2R8Y756 ENST00000643362.2 A0A2R8Y5S3 ENST00000643875.1 [Q92574-1] A0A2R8Y6T5 ENST00000647462.1 A0A2R8Y6S8 ENST00000642646.1 A7L806 ENST00000642854.1 Q96RT3 A0A2R8YGX7 ENST00000642261.2 A0A2R8Y419 A0A2R8Y5U8 Q96RT4 ENST00000645150.1 A0A2R8Y6W1 ENST00000440111.6 [Q92574-1] A0A2R8Y5M3 A0A2R8Y5Q4 ENST00000643275.2 ENST00000646391.1 A0A2R8YEH9 A0A2Z3J316 ENST00000490179.3 ENST00000642617.1 ENST00000647078.2 ENST00000642344.1 Q92574 Q96RT5 ENST00000644997.1 A0A1V1FM02 Q86WV8 ENST00000644097.1 A0A1V1FGH6 A0A2R8YD74 ENST00000642627.1 A0A2R8Y5J1 ENST00000646625.1 [Q92574-1]

TSC1 report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

IV. Literature review