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	NOS1
Previous Symbol	NOS
Symbol Alias	nNOS
Approved Name	nitric oxide synthase 1 (neuronal)
Location	12q24.22
Position	chr12:117645947-117889975, -1
External Links	HGNC: 7872 Entrez Gene: 4842 Ensembl: ENSG00000089250 UCSC: uc001twn.2
No. of Studies	1 (significant: 1; non-significant: 0; trend: 0)
Source	Literature-origin; Mapped by Literature SNP

Gene related studies (count: 1)

Reference	Statistical Values/Author Comments	Result of Statistical Analysis
Reif A, 2009	short NOS1 Ex1f VNTR alleles were associated with aADHD.	Significant

Gene related SNPs (count: 15)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (significant/non-significant/trend)
rs478597	chr12:117751425(Fwd)	intron_variant	1(0/0/1)

LD-proxies (count: 14)

rs_ID	Location	Functional Annotation
rs4767529	chr12:117721812(Fwd)	intron_variant
rs7309163	chr12:117729274(Fwd)	intron_variant
rs2293052	chr12:117715620(Fwd)	intron_variant
rs3825102	chr12:117720185(Fwd)	intron_variant
rs1607817	chr12:117712186(Fwd)	intron_variant
rs570234	chr12:117770982(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant
rs816293	chr12:117762699(Fwd)	intron_variant
rs567581	chr12:117757512(Fwd)	intron_variant
rs549098	chr12:117754327(Fwd)	intron_variant
rs551846	chr12:117754060(Fwd)	intron_variant
rs553715	chr12:117753856(Fwd)	intron_variant
rs561712	chr12:117752069(Fwd)	intron_variant
rs530393	chr12:117751258(Fwd)	intron_variant
rs539291	chr12:117735141(Fwd)	intron_variant

Gene related CNVs (count: 0)

Gene related other variant (count: 1)

Variant Name	Variant Type	Location in Gene	No. of Studies (significant/non-significant/trend)
NOS1_Ex1f_VNTR	VNTR	33 bp downstream of the TATA box	1 (1/0/0)

Gene related regions (count: 0)

Gene related GO terms (count: 37)

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

GO terms by database search (count: 37)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0034617	tetrahydrobiopterin binding	molecular function	NAS[7488039]	2
GO:0005506	iron ion binding	molecular function	IEA	26
GO:0009408	response to heat	biological process	IDA[18048451]	7
GO:0045776	negative regulation of blood pressure	biological process	IBA	6
GO:0005829	cytosol	cellular component	TAS	485
GO:0005856	cytoskeleton	cellular component	ISS[7545544]	56
GO:0010523	negative regulation of calcium ion transport into cytosol	biological process	TAS[17568574]	1
GO:0006527	arginine catabolic process	biological process	IC[7545544]	2
GO:0010181	FMN binding	molecular function	ISS	3
GO:0042383	sarcolemma	cellular component	IDA[7545544]	12
GO:0016491	oxidoreductase activity	molecular function	IBA	21
GO:0033555	multicellular organismal response to stress	biological process	IMP[18391107]	1
GO:0048471	perinuclear region of cytoplasm	cellular component	ISS[17027776]	99
GO:0005515	protein binding	molecular function	IPI[11149895]	1015
GO:0034618	arginine binding	molecular function	TAS[17029414]	1
GO:0007596	blood coagulation	biological process	TAS	85
GO:0031284	positive regulation of guanylate cyclase activity	biological process	IBA	1
GO:0051701	interaction with host	biological process	TAS	10
GO:0043197	dendritic spine	cellular component	IEA	12
GO:0001666	response to hypoxia	biological process	IEP[16276418]	41
GO:0006809	nitric oxide biosynthetic process	biological process	IBA; ISS[7545544]	2
GO:0042136	neurotransmitter biosynthetic process	biological process	TAS[7545544]	6
GO:0001917	photoreceptor inner segment	cellular component	ISS[17027776]	5
GO:0050661	NADP binding	molecular function	ISS	8
GO:0003958	NADPH-hemoprotein reductase activity	molecular function	IBA	2
GO:0055117	regulation of cardiac muscle contraction	biological process	TAS[9892689]	4
GO:0016529	sarcoplasmic reticulum	cellular component	IDA[9892689]	12
GO:0020037	heme binding	molecular function	ISS	28
GO:0004517	nitric-oxide synthase activity	molecular function	IBA; ISS[7545544]	1
GO:0046870	cadmium ion binding	molecular function	ISS	1
GO:0007263	nitric oxide mediated signal transduction	biological process	IBA	2
GO:0050660	flavin adenine dinucleotide binding	molecular function	ISS	15
GO:0005516	calmodulin binding	molecular function	IEA	33
GO:0090382	phagosome maturation	biological process	TAS	10
GO:0005737	cytoplasm	cellular component	TAS[17892502]	781
GO:0045909	positive regulation of vasodilation	biological process	IDA[18048451]; IMP[18391107]	5
GO:0007520	myoblast fusion	biological process	TAS[7545544]	6

Gene related KEGG pathways (count: 4)

ID	Name	No. of Genes in ADHDgene
hsa05222	Small cell lung cancer	17
hsa04730	Long-term depression	27
hsa04020	Calcium signaling pathway	66
hsa00330	Arginine and proline metabolism	7

Genes shared at least 5 GO terms with NOS1 (count: 12)

Gene Symbol	Pathway Count	Pathway List
MTRR	7	iron ion binding; cytosol; FMN binding; NADP binding; NADPH-hemoprotein reductase activity; flavin adenine dinucleotide binding; cytoplasm;
TH	6	tetrahydrobiopterin binding; cytosol; protein binding; response to hypoxia; neurotransmitter biosynthetic process; cytoplasm;
CDK5RAP2	6	cytosol; cytoskeleton; perinuclear region of cytoplasm; protein binding; calmodulin binding; cytoplasm;
GSK3B	6	cytosol; perinuclear region of cytoplasm; protein binding; dendritic spine; cytoplasm; myoblast fusion;
EGLN3	5	iron ion binding; cytosol; protein binding; response to hypoxia; cytoplasm;
TSC2	5	cytosol; perinuclear region of cytoplasm; protein binding; response to hypoxia; cytoplasm;
MAPK1	5	cytosol; cytoskeleton; protein binding; blood coagulation; cytoplasm;
NCF2	5	cytosol; protein binding; interaction with host; phagosome maturation; cytoplasm;
FLNC	5	cytosol; cytoskeleton; sarcolemma; protein binding; cytoplasm;
SNCA	5	cytosol; oxidoreductase activity; perinuclear region of cytoplasm; protein binding; cytoplasm;
PDE2A	5	cytosol; perinuclear region of cytoplasm; protein binding; blood coagulation; cytoplasm;
RYR2	5	protein binding; response to hypoxia; regulation of cardiac muscle contraction; sarcoplasmic reticulum; calmodulin binding;

Genes shared at least 2 KEGG pathways with NOS1 (count: 8)

Gene Symbol	Pathway Count	Pathway List
PLCB3	2	Long-term depression; Calcium signaling pathway;
ITPR2	2	Long-term depression; Calcium signaling pathway;
GRM1	2	Long-term depression; Calcium signaling pathway;
GRM5	2	Long-term depression; Calcium signaling pathway;
RYR1	2	Long-term depression; Calcium signaling pathway;
CACNA1A	2	Long-term depression; Calcium signaling pathway;
ITPR1	2	Long-term depression; Calcium signaling pathway;
PLCB2	2	Long-term depression; Calcium signaling pathway;

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Region: chr12:117645947..117889975 View in gBrowse