ADHDgene Database

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Large-scale studies

Data Summary

Published Variant
- SNP: 1391
- CNV: 398
- Others: 173
Published Gene: 359
Published Region: 128
Pathway by PBA: 8
Study: 361

Detail ...

Gene Report

Basic Info

Approved Symbol	TSC1
Previous Symbol	TSC
Symbol Alias	KIAA0243, LAM, hamartin
Approved Name	tuberous sclerosis 1
Location	9q34
Position	chr9:135766735-135820020, -
External Links	HGNC: 12362 Entrez Gene: 7248 Ensembl: ENSG00000165699 UCSC: uc004cca.2
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by PBA pathway

Gene related studies (count: 0)

Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 43)

GO terms by PBA (with statistical significance of FDR<0.05) (count: 1)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0051493	regulation of cytoskeleton organization	Biological Process		32

GO terms by database search (count: 42)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0006417	regulation of translation	Biological Process	IDA[17308101]	10
GO:0006813	potassium ion transport	Biological Process		11
GO:0007050	cell cycle arrest	Biological Process		25
GO:0007160	cell-matrix adhesion	Biological Process	IMP[10806479]	13
GO:0005829	cytosol	Cellular Component	IDA[10585443]	447
GO:0005884	actin filament	Cellular Component	IDA[10806479]	5
GO:0005938	cell cortex	Cellular Component	IDA[10806479]	26
GO:0006407	rRNA export from nucleus	Biological Process	IMP[17308101]	1
GO:0021766	hippocampus development	Biological Process		7
GO:0021987	cerebral cortex development	Biological Process		11
GO:0030027	lamellipodium	Cellular Component	IDA[10806479]	27
GO:0030030	cell projection organization	Biological Process		1
GO:0008285	negative regulation of cell proliferation	Biological Process	IMP[10915759]	59
GO:0008286	insulin receptor signaling pathway	Biological Process		32
GO:0016020	membrane	Cellular Component	IDA[16636147]	139
GO:0017148	negative regulation of translation	Biological Process	IMP[17308101]	5
GO:0032868	response to insulin stimulus	Biological Process	IDA[16996505]	11
GO:0032862	activation of Rho GTPase activity	Biological Process	IDA[10806479]	1
GO:0042552	myelination	Biological Process		7
GO:0033596	TSC1-TSC2 complex	Cellular Component	IDA[9580671]	1
GO:0030695	GTPase regulator activity	Molecular Function		1
GO:0030426	growth cone	Cellular Component		20
GO:0032794	GTPase activating protein binding	Molecular Function		3
GO:0032007	negative regulation of TOR signaling cascade	Biological Process	IMP[17308101]	4
GO:0047485	protein N-terminus binding	Molecular Function	IPI[12226091]	23
GO:0045859	regulation of protein kinase activity	Biological Process		2
GO:0050821	protein stabilization	Biological Process	IDA[11175345]	10
GO:0050808	synapse organization	Biological Process		6
GO:0043234	protein complex	Cellular Component	IDA[10585443]	45
GO:0043231	intracellular membrane-bounded organelle	Cellular Component		62
GO:0045792	negative regulation of cell size	Biological Process		2
GO:0043666	regulation of phosphoprotein phosphatase activity	Biological Process	IMP[17308101]	4
GO:0051894	positive regulation of focal adhesion assembly	Biological Process	IDA[10806479]	4
GO:0055007	cardiac muscle cell differentiation	Biological Process		4
GO:0051492	regulation of stress fiber assembly	Biological Process	IDA[10806479]	3
GO:0051087	chaperone binding	Molecular Function	IPI[10585443]	5
GO:0051291	protein heterooligomerization	Biological Process		10
GO:0001822	kidney development	Biological Process		16
GO:0005737	cytoplasm	Cellular Component	IDA[9580671]	690
GO:0005515	protein binding	Molecular Function		910
GO:0001952	regulation of cell-matrix adhesion	Biological Process	IMP[10806479]	2
GO:0001843	neural tube closure	Biological Process		10

Gene related KEGG pathways (count: 2)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa04910	Insulin signaling pathway	29	Insulin binding to its receptor results in the tyrosine phos...... Insulin binding to its receptor results in the tyrosine phosphorylation of insulin receptor substrates (IRS) by the insulin receptor tyrosine kinase (INSR). This allows association of IRSs with the regulatory subunit of phosphoinositide 3-kinase (PI3K). PI3K activates 3-phosphoinositide-dependent protein kinase 1 (PDK1), which activates Akt, a serine kinase. Akt in turn deactivates glycogen synthase kinase 3 (GSK-3), leading to activation of glycogen synthase (GYS) and thus glycogen synthesis. Activation of Akt also results in the translocation of GLUT4 vesicles from their intracellular pool to the plasma membrane, where they allow uptake of glucose into the cell. Akt also leads to mTOR-mediated activation of protein synthesis by eIF4 and p70S6K. The translocation of GLUT4 protein is also elicited through the CAP/Cbl/TC10 pathway, once Cbl is phosphorylated by INSR. More...
hsa04150	mTOR signaling pathway	13

Genes shared at least 5 GO terms with TSC1 (count: 23)

Gene Symbol	Pathway Count	Pathway List
APC	8	cell cycle arrest; cytosol; lamellipodium; negative regulation of cell proliferation; regulation of cytoskeleton organization; kidney development; cytoplasm; protein binding;
ILK	8	cell cycle arrest; cell-matrix adhesion; cytosol; lamellipodium; protein complex; protein heterooligomerization; cytoplasm; protein binding;
MEN1	7	cell cycle arrest; cytosol; negative regulation of cell proliferation; protein N-terminus binding; protein complex; cytoplasm; protein binding;
PAFAH1B1	7	cytosol; cell cortex; hippocampus development; cerebral cortex development; growth cone; cytoplasm; protein binding;
SNCA	7	cytosol; cell cortex; growth cone; protein N-terminus binding; synapse organization; cytoplasm; protein binding;
NCK2	6	regulation of translation; cytosol; negative regulation of cell proliferation; regulation of cytoskeleton organization; cytoplasm; protein binding;
PRKAA1	6	cell cycle arrest; cytosol; insulin receptor signaling pathway; negative regulation of TOR signaling cascade; protein heterooligomerization; protein binding;
INPPL1	6	cytosol; lamellipodium; negative regulation of cell proliferation; response to insulin stimulus; cytoplasm; protein binding;
MAPK1	6	cytosol; insulin receptor signaling pathway; protein complex; regulation of cytoskeleton organization; cytoplasm; protein binding;
NCK1	5	regulation of translation; cytosol; regulation of cytoskeleton organization; cytoplasm; protein binding;
APBB1	5	cell cycle arrest; lamellipodium; growth cone; cytoplasm; protein binding;
RPTOR	5	cell cycle arrest; cytosol; insulin receptor signaling pathway; cytoplasm; protein binding;
ITGB1BP1	5	cell-matrix adhesion; cytosol; lamellipodium; membrane; protein binding;
CLASP2	5	cytosol; cell cortex; regulation of cytoskeleton organization; cytoplasm; protein binding;
GRB10	5	cytosol; insulin receptor signaling pathway; response to insulin stimulus; cytoplasm; protein binding;
GSK3B	5	cytosol; hippocampus development; growth cone; cytoplasm; protein binding;
GSN	5	cytosol; lamellipodium; protein complex; regulation of cytoskeleton organization; protein binding;
PAK1	5	cytosol; growth cone; protein complex; cytoplasm; protein binding;
RELA	5	cytosol; response to insulin stimulus; protein N-terminus binding; cytoplasm; protein binding;
CORO1A	5	actin filament; lamellipodium; protein complex; cytoplasm; protein binding;
NF2	5	lamellipodium; negative regulation of cell proliferation; regulation of cytoskeleton organization; cytoplasm; protein binding;
TFAP2A	5	negative regulation of cell proliferation; intracellular membrane-bounded organelle; kidney development; cytoplasm; protein binding;
VEGFA	5	membrane; positive regulation of focal adhesion assembly; kidney development; cytoplasm; protein binding;

Genes shared at least 2 KEGG pathways with TSC1 (count: 8)

Gene Symbol	Pathway Count	Pathway List
INS	2	Insulin signaling pathway; mTOR signaling pathway;
MAPK1	2	Insulin signaling pathway; mTOR signaling pathway;
MAPK3	2	Insulin signaling pathway; mTOR signaling pathway;
PIK3CG	2	Insulin signaling pathway; mTOR signaling pathway;
PIK3R1	2	Insulin signaling pathway; mTOR signaling pathway;
PRKAA1	2	Insulin signaling pathway; mTOR signaling pathway;
RPS6KB2	2	Insulin signaling pathway; mTOR signaling pathway;
RPTOR	2	Insulin signaling pathway; mTOR signaling pathway;

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Region: chr9:135766735..135820020 View in gBrowse