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	CEP250
Previous Symbol	CEP2
Symbol Alias	C-NAP1
Approved Name	centrosomal protein 250kDa
Previous Name	centrosomal protein 2
Location	20q11.22
Position	chr20:34042985-34099804, +
External Links	HGNC: 1859 Entrez Gene: 11190 Ensembl: ENSG00000126001 UCSC: uc002xcm.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: 18)

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: 17)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0008022	protein C-terminus binding	Molecular Function	IPI[18851962]	32
GO:0005932	microtubule basal body	Cellular Component		13
GO:0005929	cilium	Cellular Component		18
GO:0005829	cytosol	Cellular Component		447
GO:0030997	regulation of centriole-centriole cohesion	Biological Process	IDA[9647649]	1
GO:0019901	protein kinase binding	Molecular Function	IPI[9647649]	51
GO:0010457	centriole-centriole cohesion	Biological Process	IMP[18851962]	1
GO:0008104	protein localization	Biological Process	IMP[18851962]	10
GO:0000278	mitotic cell cycle	Biological Process	IDA[12140259]	63
GO:0000086	G2/M transition of mitotic cell cycle	Biological Process		29
GO:0005815	microtubule organizing center	Cellular Component	NAS[9647649]	19
GO:0005814	centriole	Cellular Component	IDA[18851962,11076968]	11
GO:0005813	centrosome	Cellular Component		71
GO:0005515	protein binding	Molecular Function		910
GO:0048471	perinuclear region of cytoplasm	Cellular Component		87
GO:0031616	spindle pole centrosome	Cellular Component		3
GO:0043234	protein complex	Cellular Component	IMP[10880350]	45

Gene related KEGG pathways (count: 0)

Genes shared at least 5 GO terms with CEP250 (count: 25)

Gene Symbol	Pathway Count	Pathway List
MAPRE1	7	protein C-terminus binding; cytosol; mitotic cell cycle; G2/M transition of mitotic cell cycle; centrosome; protein binding; regulation of cytoskeleton organization;
CDK5RAP2	7	cytosol; protein kinase binding; mitotic cell cycle; G2/M transition of mitotic cell cycle; centrosome; protein binding; perinuclear region of cytoplasm;
CENPJ	7	cytosol; protein kinase binding; mitotic cell cycle; G2/M transition of mitotic cell cycle; centriole; centrosome; protein binding;
AKAP7	6	protein C-terminus binding; cytosol; protein kinase binding; protein localization; protein binding; protein complex;
CEP164	6	cytosol; mitotic cell cycle; G2/M transition of mitotic cell cycle; centriole; centrosome; protein binding;
CEP76	6	cytosol; mitotic cell cycle; G2/M transition of mitotic cell cycle; centriole; centrosome; protein binding;
CKAP5	6	cytosol; mitotic cell cycle; G2/M transition of mitotic cell cycle; centrosome; protein binding; protein complex;
CLASP1	6	cytosol; mitotic cell cycle; G2/M transition of mitotic cell cycle; centrosome; protein binding; regulation of cytoskeleton organization;
DCTN3	6	cytosol; mitotic cell cycle; G2/M transition of mitotic cell cycle; centrosome; protein binding; perinuclear region of cytoplasm;
LATS1	6	cytosol; protein kinase binding; G2/M transition of mitotic cell cycle; microtubule organizing center; protein binding; regulation of cytoskeleton organization;
NDE1	6	cytosol; mitotic cell cycle; G2/M transition of mitotic cell cycle; centrosome; protein binding; spindle pole centrosome;
PAFAH1B1	6	cytosol; mitotic cell cycle; G2/M transition of mitotic cell cycle; centrosome; protein binding; perinuclear region of cytoplasm;
PLK1	6	cytosol; protein kinase binding; mitotic cell cycle; G2/M transition of mitotic cell cycle; centrosome; protein binding;
TUBGCP2	6	cytosol; mitotic cell cycle; G2/M transition of mitotic cell cycle; microtubule organizing center; centrosome; protein binding;
AHI1	5	microtubule basal body; cilium; centriole; centrosome; protein binding;
APC	5	cytosol; protein kinase binding; centrosome; protein binding; regulation of cytoskeleton organization;
CDC25B	5	cytosol; protein kinase binding; mitotic cell cycle; G2/M transition of mitotic cell cycle; centrosome;
CEP57	5	cytosol; mitotic cell cycle; G2/M transition of mitotic cell cycle; centrosome; protein binding;
CLASP2	5	cytosol; mitotic cell cycle; microtubule organizing center; protein binding; regulation of cytoskeleton organization;
CNTRL	5	cytosol; mitotic cell cycle; G2/M transition of mitotic cell cycle; centrosome; protein binding;
GSK3B	5	cytosol; protein kinase binding; centrosome; protein binding; perinuclear region of cytoplasm;
GSN	5	cytosol; protein binding; perinuclear region of cytoplasm; regulation of cytoskeleton organization; protein complex;
MAPK1	5	cytosol; microtubule organizing center; protein binding; regulation of cytoskeleton organization; protein complex;
PRKAR2B	5	cytosol; mitotic cell cycle; G2/M transition of mitotic cell cycle; centrosome; perinuclear region of cytoplasm;
TUBG1	5	cytosol; mitotic cell cycle; G2/M transition of mitotic cell cycle; centrosome; protein binding;

Genes shared at least 2 KEGG pathways with CEP250 (count: 0)

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Region: chr20:34042985..34099804 View in gBrowse