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
nsv527475	Chr.17:8140435 - 8189376 on Build GRCh38	Loss	MIR6883 VAMP2 PER1 TMEM107 BORCS6 MIR4521 SNORD118
nsv518983	Chr.17:8124275 - 8147661 on Build GRCh38	Loss	MIR6883 HES7 PER1 TRG-GCC2-6
nsv1964	Chr.17:8140093 - 8175220 on Build GRCh38	Insertion	MIR6883 VAMP2 PER1 TMEM107 SNORD118
esv2715610	Chr.17:8141570 - 8141923 on Build GRCh38	Deletion	PER1
nsv833352	Chr.17:8029719 - 8187575 on Build GRCh38	Loss	MIR6883 HES7 VAMP2 LOC105371518 ALOXE3 TMEM107 SNORD118 ALOX12B ALOX15B PER1 TRG-GCC2-6 MIR4521 MIR4314
nsv574335	Chr.17:8106586 - 8147661 on Build GRCh38	Loss	MIR6883 HES7 PER1 ALOXE3 TRG-GCC2-6

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