BDgene

Core Gene from Gene Prioritization Pathways from PBA (Pathway-based Analysis) Enriched Pathways for Core Genes Enriched Pathways for Cross-disorder Genes

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Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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Basic Info

Approved Symbol	PER1
Previous Symbol	PER
Symbol Alias	RIGUI
Approved Name	period circadian clock 1
Previous Name	period (Drosophila) homolog 1, "period homolog 1 (Drosophila)"
Location	17p13.1
Position	chr17:8140472-8156506, -1
External Links	HGNC: 8845 Entrez Gene: 5187 Ensembl: ENSG00000179094 UCSC: uc002gkd.3
No. of Studies	5 (Positive: 2; Negative: 3; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	YES

Gene related studies (count: 5)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Mansour, H. A., 2006		Significant association was detected (P<0.05) with Pittsburgh BD1 using CC test, but no significant association was detected in BD1 using TDT test.	Positive	Comment on Study
Mansour, H. A.,2009		Gene-based tests:X<sup>2</sup>=4.005, P-value = 0.111 in recessive model, X<sup>2</sup>=0.81, P-value = 0.544 in dominant model, X<sup>2</sup>=0.15, P-value = 0.893 in additive model in BPI. No significant association was observed using neither single SNP-based analyses nor gene-based tests in BPI.	Negative	Comment on Study
Nievergelt, C. M., 2006		Single SNP TDT analyses showed no evidence for association to BPAD.	Negative	Comment on Study
Kripke, D. F.,2009	SNP: rs2585405	Significant association was observed in the BP group.	Positive	Comment on Study
Byrne, E. M., 2014		P-value=0.15. Gene-based tests show no significant association between this gene and BD.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 33)

GO terms by PBA (count: 2)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005634	nucleus	cellular component	IEA	283
GO:0004871	signal transducer activity	molecular function	IEA	32

GO terms by database search (count: 31)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0046329	negative regulation of JNK cascade	biological process	ISS	3
GO:0043967	histone H4 acetylation	biological process	IDA[14645221]	4
GO:0032922	circadian regulation of gene expression	biological process	IDA[18411297]	22
GO:2000323	negative regulation of glucocorticoid receptor signaling pathway	biological process	ISS	5
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	biological process	ISS	91
GO:0042752	regulation of circadian rhythm	biological process	ISS	12
GO:0070888	E-box binding	molecular function	IDA[18411297]	7
GO:0005737	cytoplasm	cellular component	IDA[24005054]	322
GO:0008134	transcription factor binding	molecular function	IEA	28
GO:0019900	kinase binding	molecular function	IPI[15917222]	8
GO:0031625	ubiquitin protein ligase binding	molecular function	IPI[15917222]	25
GO:0009649	entrainment of circadian clock	biological process	TAS[9323128]	2
GO:0043153	entrainment of circadian clock by photoperiod	biological process	ISS	3
GO:0010608	posttranscriptional regulation of gene expression	biological process	ISS	3
GO:0045892	negative regulation of transcription, DNA-templated	biological process	ISS	43
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	biological process	ISS	62
GO:0031490	chromatin DNA binding	molecular function	ISS	7
GO:0070932	histone H3 deacetylation	biological process	ISS	4
GO:0043124	negative regulation of I-kappaB kinase/NF-kappaB signaling	biological process	ISS	5
GO:0042634	regulation of hair cycle	biological process	IMP[24005054]	4
GO:0007165	signal transduction	biological process	IEA	136
GO:0006351	transcription, DNA-templated	biological process	IEA	103
GO:0043966	histone H3 acetylation	biological process	IDA[14645221]	4
GO:0051591	response to cAMP	biological process	IEA	4
GO:0097167	circadian regulation of translation	biological process	ISS	2
GO:0000978	RNA polymerase II core promoter proximal region sequence-specific DNA binding	molecular function	IDA[18411297]	23
GO:1900744	regulation of p38MAPK cascade	biological process	ISS	1
GO:1900015	regulation of cytokine production involved in inflammatory response	biological process	ISS	1
GO:0002028	regulation of sodium ion transport	biological process	ISS	9
GO:0000989	transcription factor binding transcription factor activity	molecular function	ISS	4
GO:0007623	circadian rhythm	biological process	IEP[14645221]; TAS	40

Gene related KEGG pathways (count: 1)

KEGG pathways by PBA (count: 0)

KEGG pathways by database search (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04710	Circadian rhythm	11

Gene related BioCarta pathways (count: 1)

BioCarta pathways by PBA (count: 0)

BioCarta pathways by database search (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
circadianPathway	Circadian Rhythms	6

Gene related interactors from protein-protein interactions data in HPRD (count: 7)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
PER1	CSNK1D	YES	in vitro;in vivo	11165242
PER1	GPRASP1	NO	in vitro;in vivo;yeast 2-hybrid	11597585
PER1	CRY2	YES	in vitro;in vivo	12782655
PER1	PER3	YES	in vitro	10837028
PER1	PER2	YES	in vivo	10848614 , 11165242
PER1	CRY1	YES	in vitro;in vivo;yeast 2-hybrid	12782655 , 10531061
PER1	HIF1A	NO	in vitro;in vivo	11726537

Related other genetic factors

Gene related SNPs (count: 4)

Literature-origin SNPs (count: 2)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs2278637	chr17:8158784 - 8158784(1)	downstream_gene_variant; intron_variant; upstream_gene_variant	1(1/0/0)
rs2585405	chr17:8143454 - 8143454(1)	downstream_gene_variant; intron_variant; missense_variant; NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant	1(1/0/0)

LD-proxies (count: 2)

rs_ID	Literature-origin SNPs with LD	Location	Functional Annotation
rs1150		chr17:8159265 - 8159265(1)	3_prime_UTR_variant; downstream_gene_variant; intron_variant; upstream_gene_variant
rs959303		chr17:8158881 - 8158881(1)	downstream_gene_variant; intron_variant; upstream_gene_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 3)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
17p13.1-17p12	chr17:6500000-16100000	1 (0/1/0)
17p13	chr17:0-10800000	3 (0/3/0)
Chr 17	chr17:0-83257441	3 (0/3/0)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Overlap with SZ from cross-disorder studies (count: 3)

Reference	Description	Result Category
19839995	Gene-based tests:X<sup>2</sup>=1.525, P-value = 0.481 in recessive model in SZ/SZA, X<sup>2</sup>=0.596, P-value = 0.64 in dominant model in SZ/SZA, X<sup>2</sup>=0.389, P-value = 0.725 in additive model in SZ/SZA.No association was observed using neither single SNP-based analyses nor gene-based tests in SZ/SZA.	Negative
24687905	P-value=0.40. Gene-based tests show no significant association between this gene and SZ.	Negative
16507006	Significant association was detected (P<0.05) with SZ/SZA using both CC test and TDT test.	Positive

Overlap with SZ from candidate gene intersection analysis (count: 2)

Reference	ID in SZGene	Result Category
19839995	122	Negative
16507006	122	Positive

Gene relationship with MDD

Overlap with MDD from cross-disorder studies (count: 1)

Reference	Description	Category in MDD
24687905	P-value=0.61. Gene-based tests show no significant association between this gene and MDD.	Negative

Overlap with MDD from candidate gene intersection analysis (count: 0)

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Region: chr17:8140472..8156506 View in gBrowse