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	ATM
Previous Symbol	ATA, ATDC, ATC, ATD
Symbol Alias	TEL1, TELO1
Approved Name	ataxia telangiectasia mutated
Previous Name	ataxia telangiectasia mutated (includes complementation groups A, C and D)
Name Alias	TEL1, telomere maintenance 1, homolog (S. cerevisiae)
Location	11q22-q23
Position	chr11:108093211-108239829, +
External Links	HGNC: 795 Entrez Gene: 472 UCSC: uc001pkb.1
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by CNV; Mapped by significant region

Gene related studies (count: 0)

Gene related SNPs (count: 0)

Gene related CNVs (count: 1)

ID	Location	Size	Band	Type	Inheritance
CNV_Elia[2010]_143	chr11:107520009-107885084 (NCBI Build 35 (hg17))	365076	11q22.3	Duplication	Paternal

Gene related other variant (count: 0)

Gene related regions (count: 2)

Region Name	Position	No. of Studies (significant/non-significant/trend)
11q	chr11:53700000-135006516	2 (1/1/0)
11q22	chr11:97200000-110400000	1 (1/0/0)

Gene related GO terms (count: 48)

GO terms by PBA (with statistical significance of FDR<0.05) (count: 0)

GO terms by database search (count: 48)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0071480	cellular response to gamma radiation	Biological Process	IDA[9925639]	4
GO:0090399	replicative senescence	Biological Process	IMP[15149599]	2
GO:0051402	neuron apoptotic process	Biological Process		2
GO:0071044	histone mRNA catabolic process	Biological Process	IDA[16086026]	2
GO:0046983	protein dimerization activity	Molecular Function	IDA[15790808]	26
GO:0047485	protein N-terminus binding	Molecular Function	IDA[11375976]	23
GO:0043525	positive regulation of neuron apoptotic process	Biological Process		9
GO:0046777	protein autophosphorylation	Biological Process	IDA[9733515]	23
GO:0043066	negative regulation of apoptotic process	Biological Process		77
GO:0043517	positive regulation of DNA damage response, signal transduction by p53 class mediator	Biological Process	IMP[9733515]	2
GO:0042159	lipoprotein catabolic process	Biological Process		1
GO:0043065	positive regulation of apoptotic process	Biological Process	IMP[17875758]	34
GO:0035174	histone serine kinase activity	Molecular Function		2
GO:0036092	phosphatidylinositol-3-phosphate biosynthetic process	Biological Process	IMP[11375976]	2
GO:0031572	G2/M transition DNA damage checkpoint	Biological Process	IMP[15149599]	7
GO:0032403	protein complex binding	Molecular Function	IDA[15790808]	27
GO:0030889	negative regulation of B cell proliferation	Biological Process	IMP[17875758]	4
GO:0018105	peptidyl-serine phosphorylation	Biological Process	IDA[9733515]	12
GO:0016303	1-phosphatidylinositol-3-kinase activity	Molecular Function	IMP[11375976]	3
GO:0016023	cytoplasmic membrane-bounded vesicle	Cellular Component		16
GO:0010212	response to ionizing radiation	Biological Process	IDA[9733515]	5
GO:0008630	intrinsic apoptotic signaling pathway in response to DNA damage	Biological Process		3
GO:0007507	heart development	Biological Process		23
GO:0007420	brain development	Biological Process		33
GO:0007292	female gamete generation	Biological Process		2
GO:0007165	signal transduction	Biological Process	TAS[7792600]	171
GO:0007131	reciprocal meiotic recombination	Biological Process	TAS[7792600]	3
GO:0007094	mitotic cell cycle spindle assembly checkpoint	Biological Process	IMP[11943150]	6
GO:0007050	cell cycle arrest	Biological Process	IMP[15149599]	25
GO:0006977	DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	Biological Process		11
GO:0006975	DNA damage induced protein phosphorylation	Biological Process	IDA[9733515]	2
GO:0006974	response to DNA damage stimulus	Biological Process	IMP[15790808]	37
GO:0005654	nucleoplasm	Cellular Component		183
GO:0005819	spindle	Cellular Component		29
GO:0006281	DNA repair	Biological Process		62
GO:0006302	double-strand break repair	Biological Process		11
GO:0004674	protein serine/threonine kinase activity	Molecular Function	IDA[9733515]	61
GO:0004677	DNA-dependent protein kinase activity	Molecular Function	IDA[15790808]	1
GO:0005515	protein binding	Molecular Function		910
GO:0005524	ATP binding	Molecular Function		228
GO:0001666	response to hypoxia	Biological Process		34
GO:0001756	somitogenesis	Biological Process		7
GO:0002331	pre-B cell allelic exclusion	Biological Process		1
GO:0003677	DNA binding	Molecular Function		220
GO:0000075	cell cycle checkpoint	Biological Process		21
GO:0000723	telomere maintenance	Biological Process		10
GO:0000724	double-strand break repair via homologous recombination	Biological Process		12
GO:0000781	chromosome, telomeric region	Cellular Component	IDA[15149599]	9

Gene related KEGG pathways (count: 3)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa04110	Cell cycle	19	Mitotic cell cycle progression is accomplished through a rep...... Mitotic cell cycle progression is accomplished through a reproducible sequence of events, DNA replication (S phase) and mitosis (M phase) separated temporally by gaps known as G1 and G2 phases. Cyclin-dependent kinases (CDKs) are key regulatory enzymes, each consisting of a catalytic CDK subunit and an activating cyclin subunit. CDKs regulate the cell's progression through the phases of the cell cycle by modulating the activity of key substrates. Downstream targets of CDKs include transcription factor E2F and its regulator Rb. Precise activation and inactivation of CDKs at specific points in the cell cycle are required for orderly cell division. Cyclin-CDK inhibitors (CKIs), such as p16Ink4a, p15Ink4b, p27Kip1, and p21Cip1, are involved in the negative regulation of CDK activities, thus providing a pathway through which the cell cycle is negatively regulated. More...
hsa04115	p53 signaling pathway	14	p53 activation is induced by a number of stress signals, inc...... p53 activation is induced by a number of stress signals, including DNA damage, oxidative stress and activated oncogenes. The p53 protein is employed as a transcriptional activator of p53-regulated genes. This results in three major outputs; cell cycle arrest, cellular senescence or apoptosis. Other p53-regulated gene functions communicate with adjacent cells, repair the damaged DNA or set up positive and negative feedback loops that enhance or attenuate the functions of the p53 protein and integrate these stress responses with other signal transduction pathways. More...
hsa04210	Apoptosis	13	Apoptosis is a genetically controlled mechanisms of cell dea...... Apoptosis is a genetically controlled mechanisms of cell death involved in the regulation of tissue homeostasis. The 2 major pathways of apoptosis are the extrinsic (Fas and other TNFR superfamily members and ligands) and the intrinsic (mitochondria-associated) pathways, both of which are found in the cytoplasm. The extrinsic pathway is triggered by death receptor engagement, which initiates a signaling cascade mediated by caspase-8 activation. Caspase-8 both feeds directly into caspase-3 activation and stimulates the release of cytochrome c by the mitochondria. Caspase-3 activation leads to the degradation of cellular proteins necessary to maintain cell survival and integrity. The intrinsic pathway occurs when various apoptotic stimuli trigger the release of cytochrome c from the mitochondria (independently of caspase-8 activation). Cytochrome c interacts with Apaf-1 and caspase-9 to promote the activation of caspase-3. Recent studies point to the ER as a third subcellular compartment implicated in apoptotic execution. Alterations in Ca2+ homeostasis and accumulation of misfolded proteins in the ER cause ER stress. Prolonged ER stress can result in the activation of BAD and/or caspase-12, and execute apoptosis. More...

Genes shared at least 5 GO terms with ATM (count: 50)

Gene Symbol	Pathway Count	Pathway List
CHEK1	11	replicative senescence; G2/M transition DNA damage checkpoint; DNA damage induced protein phosphorylation; response to DNA damage stimulus; nucleoplasm; DNA repair; protein serine/threonine kinase activity; protein binding; ATP binding; cell cycle checkpoint; chromosome, telomeric region;
MRE11A	10	reciprocal meiotic recombination; response to DNA damage stimulus; nucleoplasm; DNA repair; double-strand break repair; protein binding; DNA binding; cell cycle checkpoint; double-strand break repair via homologous recombination; chromosome, telomeric region;
MAPK1	9	peptidyl-serine phosphorylation; signal transduction; response to DNA damage stimulus; nucleoplasm; spindle; protein serine/threonine kinase activity; protein binding; ATP binding; DNA binding;
H2AFX	9	response to ionizing radiation; response to DNA damage stimulus; nucleoplasm; DNA repair; double-strand break repair; protein binding; DNA binding; double-strand break repair via homologous recombination; chromosome, telomeric region;
MEN1	8	protein N-terminus binding; positive regulation of apoptotic process; brain development; cell cycle arrest; response to DNA damage stimulus; nucleoplasm; DNA repair; protein binding;
PLK1	8	negative regulation of apoptotic process; G2/M transition DNA damage checkpoint; peptidyl-serine phosphorylation; nucleoplasm; spindle; protein serine/threonine kinase activity; protein binding; ATP binding;
TGFBR1	8	negative regulation of apoptotic process; peptidyl-serine phosphorylation; heart development; signal transduction; cell cycle arrest; protein serine/threonine kinase activity; protein binding; ATP binding;
XRCC5	8	negative regulation of apoptotic process; nucleoplasm; DNA repair; double-strand break repair; protein binding; ATP binding; DNA binding; telomere maintenance;
NEK6	7	protein autophosphorylation; G2/M transition DNA damage checkpoint; peptidyl-serine phosphorylation; signal transduction; protein serine/threonine kinase activity; protein binding; ATP binding;
PALB2	7	negative regulation of apoptotic process; nucleoplasm; DNA repair; protein binding; somitogenesis; DNA binding; double-strand break repair via homologous recombination;
PRKAA1	7	negative regulation of apoptotic process; histone serine kinase activity; signal transduction; cell cycle arrest; protein binding; ATP binding; response to hypoxia;
TP53BP1	7	response to DNA damage stimulus; nucleoplasm; DNA repair; double-strand break repair; protein binding; double-strand break repair via homologous recombination; chromosome, telomeric region;
ERBB2	6	protein dimerization activity; protein autophosphorylation; heart development; signal transduction; protein binding; ATP binding;
RELA	6	protein N-terminus binding; negative regulation of apoptotic process; protein complex binding; nucleoplasm; protein binding; DNA binding;
PRKD1	6	protein autophosphorylation; peptidyl-serine phosphorylation; signal transduction; protein serine/threonine kinase activity; protein binding; ATP binding;
SMG1	6	protein autophosphorylation; peptidyl-serine phosphorylation; DNA repair; protein serine/threonine kinase activity; protein binding; ATP binding;
APC	6	negative regulation of apoptotic process; positive regulation of apoptotic process; mitotic cell cycle spindle assembly checkpoint; cell cycle arrest; response to DNA damage stimulus; protein binding;
BARD1	6	negative regulation of apoptotic process; positive regulation of apoptotic process; cell cycle arrest; response to DNA damage stimulus; DNA repair; protein binding;
MAPK7	6	negative regulation of apoptotic process; peptidyl-serine phosphorylation; signal transduction; nucleoplasm; protein binding; ATP binding;
APBB1	6	positive regulation of apoptotic process; signal transduction; cell cycle arrest; response to DNA damage stimulus; double-strand break repair; protein binding;
RAD9A	6	positive regulation of apoptotic process; response to DNA damage stimulus; nucleoplasm; DNA repair; protein binding; cell cycle checkpoint;
NCOA6	6	heart development; brain development; response to DNA damage stimulus; nucleoplasm; DNA repair; protein binding;
FEN1	6	nucleoplasm; DNA repair; double-strand break repair; protein binding; DNA binding; telomere maintenance;
YAP1	5	cellular response to gamma radiation; negative regulation of apoptotic process; response to DNA damage stimulus; nucleoplasm; protein binding;
BNIP3	5	neuron apoptotic process; negative regulation of apoptotic process; nucleoplasm; protein binding; response to hypoxia;
MAP3K11	5	positive regulation of neuron apoptotic process; protein autophosphorylation; protein serine/threonine kinase activity; protein binding; ATP binding;
PMAIP1	5	positive regulation of neuron apoptotic process; positive regulation of DNA damage response, signal transduction by p53 class mediator; positive regulation of apoptotic process; response to DNA damage stimulus; protein binding;
PAK1	5	protein autophosphorylation; protein serine/threonine kinase activity; protein binding; ATP binding; response to hypoxia;
ULK2	5	protein autophosphorylation; signal transduction; protein serine/threonine kinase activity; protein binding; ATP binding;
GSK3B	5	negative regulation of apoptotic process; peptidyl-serine phosphorylation; protein serine/threonine kinase activity; protein binding; ATP binding;
PIK3CG	5	negative regulation of apoptotic process; 1-phosphatidylinositol-3-kinase activity; protein serine/threonine kinase activity; protein binding; ATP binding;
RBBP8	5	G2/M transition DNA damage checkpoint; DNA repair; protein binding; cell cycle checkpoint; double-strand break repair via homologous recombination;
TAOK2	5	G2/M transition DNA damage checkpoint; cytoplasmic membrane-bounded vesicle; response to DNA damage stimulus; protein serine/threonine kinase activity; ATP binding;
ERCC8	5	protein complex binding; response to DNA damage stimulus; nucleoplasm; DNA repair; protein binding;
ADRBK1	5	peptidyl-serine phosphorylation; heart development; signal transduction; protein binding; ATP binding;
ILK	5	peptidyl-serine phosphorylation; cell cycle arrest; protein serine/threonine kinase activity; protein binding; ATP binding;
USP28	5	response to ionizing radiation; response to DNA damage stimulus; nucleoplasm; DNA repair; protein binding;
MCM9	5	female gamete generation; response to DNA damage stimulus; ATP binding; DNA binding; double-strand break repair via homologous recombination;
CSNK1E	5	signal transduction; DNA repair; protein serine/threonine kinase activity; protein binding; ATP binding;
MAP2K3	5	signal transduction; nucleoplasm; protein serine/threonine kinase activity; protein binding; ATP binding;
SMC3	5	signal transduction; nucleoplasm; DNA repair; protein binding; ATP binding;
TTK	5	mitotic cell cycle spindle assembly checkpoint; spindle; protein serine/threonine kinase activity; protein binding; ATP binding;
PSMC3	5	DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; nucleoplasm; protein binding; ATP binding; cell cycle checkpoint;
UBB	5	DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; nucleoplasm; DNA repair; protein binding; cell cycle checkpoint;
UBC	5	DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; nucleoplasm; DNA repair; protein binding; cell cycle checkpoint;
CHD1L	5	response to DNA damage stimulus; DNA repair; protein binding; ATP binding; DNA binding;
RAD1	5	response to DNA damage stimulus; nucleoplasm; DNA repair; protein binding; cell cycle checkpoint;
DDB1	5	nucleoplasm; DNA repair; protein binding; DNA binding; cell cycle checkpoint;
SMC1A	5	nucleoplasm; DNA repair; protein binding; ATP binding; cell cycle checkpoint;
TINF2	5	nucleoplasm; protein binding; DNA binding; telomere maintenance; chromosome, telomeric region;

Genes shared at least 2 KEGG pathways with ATM (count: 4)

Gene Symbol	Pathway Count	Pathway List
CCND1	2	Cell cycle; p53 signaling pathway;
CHEK1	2	Cell cycle; p53 signaling pathway;
GADD45G	2	Cell cycle; p53 signaling pathway;
CYCS	2	p53 signaling pathway; Apoptosis;

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Region: chr11:108093211..108239829 View in gBrowse