Hs07050786_cn

• Gene Symbol: PYGL
• Assay Reference Genome Location: Chr.14:50906724 on build GRCh38
• Cytoband: 14q22.1

Target Gene Details

• Entrez Gene ID: 5836
• Gene Name: phosphorylase, glycogen, liver
• Gene Aliases: GSD6
• Location: Chr.14:50905217-50944530 on Build GRCh38
• Assay Gene Location: Within Intron 19

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PYGL	NM_001163940.1			NP_001157412.1
	NM_002863.4			NP_002854.3
	AA523002.1
	AF046785.1			AAC23504.1
	AF066858.1			AAC17450.1
	AK225904.1
	AK300580.1
	AK309333.1
	AK313206.1
	BC009895.2
	BC082229.1
	BC095850.1
	BC110791.1
	M14636.1			AAA52577.1
	M36807.1			AAA35906.1
	Y15233.1			CAA75517.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3892542	Chr.14:50853532 - 50942040 on Build GRCh38	Loss	ABHD12B PYGL
esv3581193	Chr.14:50905872 - 50907653 on Build GRCh38	Loss	PYGL
nsv832794	Chr.14:50739915 - 50959891 on Build GRCh38	Gain	ABHD12B NIN LOC105370489 PYGL LOC400212

More Information

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

Panther Classification:

Molecular Function -

glycosyltransferase, transferase, metabolite interconversion enzyme

Gene Ontology Categories:

Process(es)

glycogen metabolic process
glycogen catabolic process
5-phosphoribose 1-diphosphate biosynthetic process
glucose homeostasis
necroptotic process

Function(s)

purine nucleobase binding
protein binding
ATP binding
glucose binding
drug binding
glycogen phosphorylase activity
AMP binding
vitamin binding
pyridoxal phosphate binding
bile acid binding
protein homodimerization activity