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	RASA1
Previous Symbol	RASA
Symbol Alias	GAP, CM-AVM, p120GAP, p120RASGAP
Approved Name	RAS p21 protein activator (GTPase activating protein) 1
Name Alias	capillary malformation-arteriovenous malformation
Location	5q13
Position	chr5:86563705-86687748, +
External Links	HGNC: 9871 Entrez Gene: 5921 Ensembl: ENSG00000145715 UCSC: uc003kiw.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: 25)

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: 24)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0001570	vasculogenesis	Biological Process		10
GO:0000910	cytokinesis	Biological Process		15
GO:0001948	glycoprotein binding	Molecular Function	IPI[8618896]	3
GO:0001726	ruffle	Cellular Component		14
GO:0005099	Ras GTPase activator activity	Molecular Function		5
GO:0001953	negative regulation of cell-matrix adhesion	Biological Process	IDA[8344248]	5
GO:0005515	protein binding	Molecular Function		910
GO:0005102	receptor binding	Molecular Function	IPI[2157284]	61
GO:0005543	phospholipid binding	Molecular Function		61
GO:0005737	cytoplasm	Cellular Component	NAS[2821624]	690
GO:0005829	cytosol	Cellular Component		447
GO:0007162	negative regulation of cell adhesion	Biological Process	IDA[8344248]	6
GO:0007165	signal transduction	Biological Process	IDA[1756860]	171
GO:0008360	regulation of cell shape	Biological Process	NAS[9113414]	20
GO:0009790	embryo development	Biological Process		17
GO:0019870	potassium channel inhibitor activity	Molecular Function	NAS[1553544]	1
GO:0030833	regulation of actin filament polymerization	Biological Process	IDA[8344248]	5
GO:0031235	intrinsic to internal side of plasma membrane	Cellular Component		4
GO:0032320	positive regulation of Ras GTPase activity	Biological Process		5
GO:0035556	intracellular signal transduction	Biological Process	NAS[1581965]	44
GO:0043524	negative regulation of neuron apoptotic process	Biological Process		19
GO:0046580	negative regulation of Ras protein signal transduction	Biological Process		4
GO:0051020	GTPase binding	Molecular Function	IPI[2122974]	3
GO:0051252	regulation of RNA metabolic process	Biological Process	NAS[9113414]	1

Gene related KEGG pathways (count: 2)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa04360	Axon guidance	25	Axon guidance represents a key stage in the formation of neu...... Axon guidance represents a key stage in the formation of neuronal network. Axons are guided by a variety of guidance factors, such as netrins, ephrins, Slits, and semaphorins. These guidance cues are read by growth cone receptors, and signal transduction pathways downstream of these receptors converge onto the Rho GTPases to elicit changes in cytoskeletal organization that determine which way the growth cone will turn. More...
hsa04010	MAPK signaling pathway	69	The mitogen-activated protein kinase (MAPK) cascade is a hig...... The mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals express at least four distinctly regulated groups of MAPKs, extracellular signal-related kinases (ERK)-1/2, Jun amino-terminal kinases (JNK1/2/3), p38 proteins (p38alpha/beta/gamma/delta) and ERK5, that are activated by specific MAPKKs: MEK1/2 for ERK1/2, MKK3/6 for the p38, MKK4/7 (JNKK1/2) for the JNKs, and MEK5 for ERK5. Each MAPKK, however, can be activated by more than one MAPKKK, increasing the complexity and diversity of MAPK signalling. Presumably each MAPKKK confers responsiveness to distinct stimuli. For example, activation of ERK1/2 by growth factors depends on the MAPKKK c-Raf, but other MAPKKKs may activate ERK1/2 in response to pro-inflammatory stimuli. More...

Genes shared at least 5 GO terms with RASA1 (count: 14)

Gene Symbol	Pathway Count	Pathway List
DAB2IP	6	Ras GTPase activator activity; phospholipid binding; cytoplasm; intrinsic to internal side of plasma membrane; positive regulation of Ras GTPase activity; negative regulation of Ras protein signal transduction;
SYNGAP1	6	Ras GTPase activator activity; phospholipid binding; cytoplasm; intrinsic to internal side of plasma membrane; positive regulation of Ras GTPase activity; negative regulation of Ras protein signal transduction;
ROCK2	5	cytokinesis; protein binding; phospholipid binding; cytosol; intracellular signal transduction;
FGD3	5	ruffle; phospholipid binding; cytoplasm; cytosol; regulation of cell shape;
ADRBK1	5	protein binding; phospholipid binding; cytoplasm; cytosol; signal transduction;
ITK	5	protein binding; phospholipid binding; cytosol; signal transduction; intracellular signal transduction;
MAPK1	5	protein binding; cytoplasm; cytosol; signal transduction; regulation of cytoskeleton organization;
NCK1	5	protein binding; receptor binding; cytoplasm; cytosol; regulation of cytoskeleton organization;
NCK2	5	protein binding; cytoplasm; cytosol; signal transduction; regulation of cytoskeleton organization;
PRKCB	5	protein binding; cytoplasm; cytosol; signal transduction; intracellular signal transduction;
PRKD1	5	protein binding; phospholipid binding; cytoplasm; cytosol; signal transduction;
SIPA1	5	protein binding; cytosol; negative regulation of cell adhesion; signal transduction; intracellular signal transduction;
SNCA	5	protein binding; phospholipid binding; cytoplasm; cytosol; negative regulation of neuron apoptotic process;
PPP1R1B	5	receptor binding; cytoplasm; cytosol; signal transduction; intracellular signal transduction;

Genes shared at least 2 KEGG pathways with RASA1 (count: 5)

Gene Symbol	Pathway Count	Pathway List
MAPK1	2	Axon guidance; MAPK signaling pathway;
MAPK3	2	Axon guidance; MAPK signaling pathway;
NFATC4	2	Axon guidance; MAPK signaling pathway;
PAK1	2	Axon guidance; MAPK signaling pathway;
PPP3R2	2	Axon guidance; MAPK signaling pathway;

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Region: chr5:86563705..86687748 View in gBrowse