Hs00644087_cn

• Gene Symbol: PPARGC1B
• Assay Reference Genome Location: Chr.5:149730394 on build GRCh38
• Cytoband: 5q32

Target Gene Details

• Entrez Gene ID: 133522
• Gene Name: PPARG coactivator 1 beta
• Gene Aliases: ERRL1, PERC, PGC-1(beta), PGC1B
• Location: Chr.5:149730252-149857861 on Build GRCh38
• Assay Gene Location: Overlaps Exon 1 - Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PPARGC1B	NM_001172698.1			NP_001166169.1
	NM_133263.3			NP_573570.3
	XM_011537553.2			XP_011535855.1
	XM_011537555.2			XP_011535857.1
	XM_011537557.1			XP_011535859.1
	AF468496.1			AAL78633.1
	AF468497.1			AAL78634.1
	AK095391.1			BAC04541.1
	AY188947.1			AAO40022.1
	AY188948.1			AAO40023.1
	AY188949.1			AAO40024.1
	AY188950.1			AAO40025.1
	BC132971.1
	BC132973.1
	BC144251.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv5060	Chr.5:149693490 - 149739293 on Build GRCh38	Deletion	PPARGC1B MIR378A
nsv1019813	Chr.5:149673743 - 149781874 on Build GRCh38	Gain	PPARGC1B MIR378A
nsv1027896	Chr.5:149697049 - 149739278 on Build GRCh38	Gain	PPARGC1B MIR378A

More Information

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

Panther Classification:

Molecular Function -

transcription cofactor

Gene Ontology Categories:

Process(es)

ossification
regulation of transcription, DNA-templated
transcription from mitochondrial promoter
mitochondrion organization
actin filament organization
positive regulation of alkaline phosphatase activity
intracellular estrogen receptor signaling pathway
cellular response to reactive oxygen species
positive regulation of phosphorylation
positive regulation of osteoclast differentiation
positive regulation of bone resorption
negative regulation of transcription, DNA-templated
positive regulation of transcription from RNA polymerase II promoter
positive regulation of sequence-specific DNA binding transcription factor activity
response to glucocorticoid
response to cAMP
bone trabecula formation
positive regulation of receptor activity

Function(s)

nucleotide binding
RNA polymerase II transcription cofactor activity
RNA binding
transcription factor binding
estrogen receptor binding
ligand-dependent nuclear receptor transcription coactivator activity
receptor activator activity
AF-2 domain binding