Hs05565456_cn

• Gene Symbol: PPARA
• Assay Reference Genome Location: Chr.22:46170691 on build GRCh38
• Cytoband: 22q13.31

Target Gene Details

• Entrez Gene ID: 5465
• Gene Name: peroxisome proliferator activated receptor alpha
• Gene Aliases: NR1C1, PPAR, PPARalpha, hPPAR
• Location: Chr.22:46150534-46243756 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PPARA	NM_001001928.2			NP_001001928.1
	NM_005036.4			NP_005027.2
	XM_005261655.3			XP_005261712.1
	XM_006724269.3			XP_006724332.1
	XM_006724270.3			XP_006724333.1
	XM_011530239.2			XP_011528541.1
	XM_011530240.2			XP_011528542.1
	XM_011530241.2			XP_011528543.1
	XM_011530244.2			XP_011528546.1
	XM_011530245.2			XP_011528547.1
	XM_017028839.1			XP_016884328.1
	XM_017028840.1			XP_016884329.1
	AK289821.1
	AU099251.1
	AY258328.1			AAO89523.1
	AY258330.1			AAO89525.1
	L02932.1			AAA36468.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3647943	Chr.22:46168132 - 46171083 on Build GRCh38	Loss	PPARA
nsv834224	Chr.22:46111666 - 46261750 on Build GRCh38	Loss	MIRLET7B MIRLET7A3 PPARA CDPF1 MIRLET7BHG PKDREJ MIR4763
nsv829281	Chr.22:45861485 - 46735858 on Build GRCh38	Gain	MIRLET7B MIRLET7A3 CERK WNT7B LOC730668 MIRLET7BHG TTC38 LOC107985535 PKDREJ GRAMD4 MIR4763 GTSE1-AS1 LINC00899 PPARA CDPF1 MIR3619 PRR34 GTSE1 TRMU LOC642648 CELSR1 PRR34-AS1
esv3558259	Chr.22:46168108 - 46171055 on Build GRCh38	Deletion	PPARA
nsv1071457	Chr.22:46168100 - 46171162 on Build GRCh38	Deletion	PPARA
esv2667871	Chr.22:46168086 - 46170895 on Build GRCh38	Deletion	PPARA

More Information

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

Panther Classification:

Molecular Function -

C4 zinc finger nuclear receptor, DNA-binding transcription factor, zinc finger transcription factor, gene-specific transcriptional regulator

Gene Ontology Categories:

Process(es)

negative regulation of transcription from RNA polymerase II promoter
response to hypoxia
transcription initiation from RNA polymerase II promoter
lipid metabolic process
fatty acid metabolic process
heart development
epidermis development
negative regulation of macrophage derived foam cell differentiation
negative regulation of receptor biosynthetic process
negative regulation of cholesterol storage
negative regulation of sequestering of triglyceride
fatty acid transport
intracellular receptor signaling pathway
positive regulation of fatty acid beta-oxidation
negative regulation of protein binding
negative regulation of appetite
response to insulin
circadian regulation of gene expression
behavioral response to nicotine
wound healing
lipoprotein metabolic process
regulation of circadian rhythm
steroid hormone mediated signaling pathway
cellular lipid metabolic process
positive regulation of gluconeogenesis
negative regulation of blood pressure
negative regulation of glycolytic process
positive regulation of transcription, DNA-templated
positive regulation of transcription from RNA polymerase II promoter
positive regulation of fatty acid oxidation
negative regulation of inflammatory response
enamel mineralization
regulation of glycolytic process by positive regulation of transcription from RNA polymerase II promoter
regulation of cellular ketone metabolic process by positive regulation of transcription from RNA polymerase II promoter
regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter
negative regulation of neuron death
negative regulation of pri-miRNA transcription from RNA polymerase II promoter
negative regulation of leukocyte cell-cell adhesion
negative regulation of transcription regulatory region DNA binding

Function(s)

RNA polymerase II core promoter proximal region sequence-specific DNA binding
transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding
RNA polymerase II repressing transcription factor binding
transcriptional activator activity, RNA polymerase II transcription factor binding
transcription coactivator binding
DNA binding
transcription factor activity, sequence-specific DNA binding
steroid hormone receptor activity
RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding
protein binding
transcription factor binding
drug binding
zinc ion binding
lipid binding
phosphatase binding
protein domain specific binding
ubiquitin conjugating enzyme binding
protein complex binding
sequence-specific DNA binding
NFAT protein binding
MDM2/MDM4 family protein binding