Hs00383022_cn

• Gene Symbol: PER1
• Assay Reference Genome Location: Chr.17:8141864 on build GRCh38
• Cytoband: 17p13.1

Target Gene Details

• Entrez Gene ID: 5187
• Gene Name: period circadian clock 1
• Gene Aliases: PER, RIGUI, hPER
• Location: Chr.17:8140470-8156405 on Build GRCh38
• Assay Gene Location: Overlaps Intron 23 - Exon 23

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PER1	NM_002616.2			NP_002607.2
	XM_005256689.1			XP_005256746.1
	XM_005256690.1			XP_005256747.1
	AB002107.1			BAA22633.1
	AB088477.1
	AF022991.1			AAC51765.1
	AK291061.1
	BC137346.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv518983	Chr.17:8124275 - 8147661 on Build GRCh38	Loss	MIR6883 TRG-GCC2-6 PER1 HES7
nsv527475	Chr.17:8140435 - 8189376 on Build GRCh38	Loss	BORCS6 MIR6883 TMEM107 VAMP2 SNORD118 PER1 MIR4521
nsv1964	Chr.17:8140093 - 8175220 on Build GRCh38	Insertion	MIR6883 TMEM107 VAMP2 SNORD118 PER1
esv2715610	Chr.17:8141570 - 8141923 on Build GRCh38	Deletion	PER1
nsv833352	Chr.17:8029719 - 8187575 on Build GRCh38	Loss	MIR6883 VAMP2 MIR4314 HES7 MIR4521 ALOX15B LOC105371518 TRG-GCC2-6 ALOXE3 TMEM107 ALOX12B SNORD118 PER1
nsv457661	Chr.17:8106586 - 8147661 on Build GRCh38	Loss	MIR6883 TRG-GCC2-6 ALOXE3 PER1 HES7

More Information

• Set Membership: Intragenic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

transcription cofactor, gene-specific transcriptional regulator

Gene Ontology Categories:

Process(es)

negative regulation of transcription from RNA polymerase II promoter
regulation of sodium ion transport
transcription, DNA-templated
circadian rhythm
entrainment of circadian clock
posttranscriptional regulation of gene expression
circadian regulation of gene expression
regulation of hair cycle
regulation of circadian rhythm
negative regulation of I-kappaB kinase/NF-kappaB signaling
entrainment of circadian clock by photoperiod
histone H3 acetylation
histone H4 acetylation
negative regulation of transcription, DNA-templated
positive regulation of transcription from RNA polymerase II promoter
negative regulation of JNK cascade
response to cAMP
histone H3 deacetylation
circadian regulation of translation
regulation of cytokine production involved in inflammatory response
regulation of p38MAPK cascade
negative regulation of glucocorticoid receptor signaling pathway

Function(s)

RNA polymerase II core promoter proximal region sequence-specific DNA binding
transcription factor activity, transcription factor binding
transcription factor binding
kinase binding
chromatin DNA binding
ubiquitin protein ligase binding
E-box binding