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	CLOCK
Symbol Alias	KIAA0334, KAT13D, bHLHe8
Approved Name	clock homolog (mouse)
Previous Name	clock (mouse) homolog
Location	4q12
Position	chr4:56298643-56413305, -
External Links	HGNC: 2082 Entrez Gene: 9575 Ensembl: ENSG00000134852 UCSC: uc003hba.1
No. of Studies	2 (significant: 2; non-significant: 0; trend: 0)
Source	Literature-origin; Mapped by LD-proxy; Mapped by literature SNP

Gene related studies (count: 2)

Reference	Statistical Values/Author Comments	Result of Statistical Analysis
Kissling C, 2008	rs1801260 of a gene within the circadian 'clock' mechanism is a direct or linked contributing factor in adult ADHD	Significant
Xu X, 2010	T allele of rs1801260 was significantly over-transmitted in the Taiwanese samples and combined samples even after Bonferroni correction, possible involvement of CLOCK in susceptibility to ADHD	Significant

Gene related SNPs (count: 17)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (significant/non-significant/trend)
rs1801260	Chr4:56301369(Fwd)	3_prime_UTR_variant; nc_transcript_variant; non_coding_exon_variant	2(2/0/0)

LD-proxies (count: 16)

rs_ID	Location	Functional Annotation
rs6858749	Chr4:56290437(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant
rs11240	Chr4:56319350(Fwd)	downstream_gene_variant; intron_variant; upstream_gene_variant
rs2070062	Chr4:56355598(Fwd)	5_prime_UTR_variant; NMD_transcript_variant; nc_transcript_variant; non_coding_exon_variant
rs6802	Chr4:56292101(Fwd)	3_prime_UTR_variant; downstream_gene_variant
rs17721497	Chr4:56311248(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant
rs17722979	Chr4:56346411(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs1021307	Chr4:56395714(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant
rs10462028	Chr4:56298300(Fwd)	3_prime_UTR_variant; downstream_gene_variant
rs1048004	Chr4:56300209(Fwd)	3_prime_UTR_variant; downstream_gene_variant; nc_transcript_variant; non_coding_exon_variant
rs11732723	Chr4:56290558(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant
rs7659095	Chr4:56401601(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant
rs11932595	Chr4:56323597(Fwd)	intron_variant; nc_transcript_variant
rs3792603	Chr4:56302058(Fwd)	intron_variant; nc_transcript_variant
rs7698022	Chr4:56407347(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs7660668	Chr4:56401697(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant
rs1021306	Chr4:56395944(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 23)

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

GO terms by database search (count: 23)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0004402	histone acetyltransferase activity	Molecular Function		9
GO:0003700	sequence-specific DNA binding transcription factor activity	Molecular Function		132
GO:0005634	nucleus	Cellular Component		770
GO:0004871	signal transducer activity	Molecular Function		49
GO:0005694	chromosome	Cellular Component		15
GO:0005667	transcription factor complex	Cellular Component	IPI[9576906]	51
GO:0005829	cytosol	Cellular Component		447
GO:0005730	nucleolus	Cellular Component		243
GO:0006357	regulation of transcription from RNA polymerase II promoter	Biological Process	TAS[10198158]	42
GO:0006355	regulation of transcription, DNA-dependent	Biological Process		158
GO:0007623	circadian rhythm	Biological Process	TAS[10198158]	15
GO:0007165	signal transduction	Biological Process	TAS[10198158]	171
GO:0032922	circadian regulation of gene expression	Biological Process		6
GO:0009648	photoperiodism	Biological Process	TAS[10198158]	2
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	Biological Process	IGI[9576906]	131
GO:0043231	intracellular membrane-bounded organelle	Cellular Component		62
GO:0046983	protein dimerization activity	Molecular Function		26
GO:0070888	E-box binding	Molecular Function	IDA[18411297]	4
GO:0071479	cellular response to ionizing radiation	Biological Process		4
GO:0000982	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity	Molecular Function		3
GO:0001190	RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription	Molecular Function		2
GO:0000077	DNA damage checkpoint	Biological Process		7
GO:0000978	RNA polymerase II core promoter proximal region sequence-specific DNA binding	Molecular Function	IDA[18411297]	4

Gene related KEGG pathways (count: 1)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa04710	Circadian rhythm - mammal	6

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

Gene Symbol	Pathway Count	Pathway List
POU2F3	7	sequence-specific DNA binding transcription factor activity; nucleus; transcription factor complex; nucleolus; regulation of transcription from RNA polymerase II promoter; positive regulation of transcription from RNA polymerase II promoter; protein dimerization activity;
TFAP2A	7	nucleus; nucleolus; positive regulation of transcription from RNA polymerase II promoter; intracellular membrane-bounded organelle; protein dimerization activity; RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity; RNA polymerase II core promoter proximal region sequence-specific DNA binding;
KAT5	6	histone acetyltransferase activity; nucleus; transcription factor complex; cytosol; nucleolus; positive regulation of transcription from RNA polymerase II promoter;
FOXD4	6	sequence-specific DNA binding transcription factor activity; nucleus; transcription factor complex; nucleolus; regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter;
NPAS2	6	sequence-specific DNA binding transcription factor activity; signal transducer activity; transcription factor complex; cytosol; positive regulation of transcription from RNA polymerase II promoter; protein dimerization activity;
PER1	6	nucleus; signal transducer activity; circadian rhythm; circadian regulation of gene expression; E-box binding; RNA polymerase II core promoter proximal region sequence-specific DNA binding;
SUPT3H	5	histone acetyltransferase activity; nucleus; nucleolus; regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent;
CBL	5	sequence-specific DNA binding transcription factor activity; nucleus; signal transducer activity; cytosol; regulation of transcription, DNA-dependent;
ELK3	5	sequence-specific DNA binding transcription factor activity; nucleus; nucleolus; signal transduction; intracellular membrane-bounded organelle;
HES6	5	sequence-specific DNA binding transcription factor activity; transcription factor complex; regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; protein dimerization activity;
HINFP	5	sequence-specific DNA binding transcription factor activity; nucleus; nucleolus; regulation of transcription, DNA-dependent; DNA damage checkpoint;
HMGA1	5	sequence-specific DNA binding transcription factor activity; nucleus; transcription factor complex; cytosol; regulation of transcription, DNA-dependent;
HNF1B	5	sequence-specific DNA binding transcription factor activity; nucleus; transcription factor complex; nucleolus; positive regulation of transcription from RNA polymerase II promoter;
HOXB1	5	sequence-specific DNA binding transcription factor activity; nucleus; nucleolus; regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter;
KDM1A	5	sequence-specific DNA binding transcription factor activity; nucleus; transcription factor complex; regulation of transcription from RNA polymerase II promoter; positive regulation of transcription from RNA polymerase II promoter;
MTA2	5	sequence-specific DNA binding transcription factor activity; nucleus; transcription factor complex; nucleolus; positive regulation of transcription from RNA polymerase II promoter;
RBPJ	5	sequence-specific DNA binding transcription factor activity; nucleus; nucleolus; positive regulation of transcription from RNA polymerase II promoter; RNA polymerase II core promoter proximal region sequence-specific DNA binding;
RELA	5	sequence-specific DNA binding transcription factor activity; nucleus; transcription factor complex; cytosol; positive regulation of transcription from RNA polymerase II promoter;
SREBF1	5	sequence-specific DNA binding transcription factor activity; nucleus; regulation of transcription from RNA polymerase II promoter; positive regulation of transcription from RNA polymerase II promoter; protein dimerization activity;
TBX1	5	sequence-specific DNA binding transcription factor activity; nucleus; regulation of transcription from RNA polymerase II promoter; positive regulation of transcription from RNA polymerase II promoter; protein dimerization activity;
TFEB	5	sequence-specific DNA binding transcription factor activity; nucleus; transcription factor complex; regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter;
AIP	5	nucleus; signal transducer activity; cytosol; nucleolus; signal transduction;
EEF1D	5	nucleus; signal transducer activity; cytosol; regulation of transcription, DNA-dependent; signal transduction;
NCOA6	5	nucleus; transcription factor complex; nucleolus; positive regulation of transcription from RNA polymerase II promoter; intracellular membrane-bounded organelle;
RAD1	5	nucleus; nucleolus; intracellular membrane-bounded organelle; cellular response to ionizing radiation; DNA damage checkpoint;

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

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Region: chr4:56298643..56413305 View in gBrowse