Hs05524471_cn

• Gene Symbol: PYGB
• Assay Reference Genome Location: Chr.20:25252164 on build GRCh38
• Cytoband: 20p11.21

Target Gene Details

• Entrez Gene ID: 5834
• Gene Name: phosphorylase, glycogen; brain
• Gene Aliases: GPBB
• Location: Chr.20:25248070-25298012 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PYGB	NM_002862.3			NP_002853.2
	AB209080.1			BAD92317.1
	AK299697.1
	AK309036.1
	BC017045.2			AAH17045.1
	BC030795.2			AAH30795.1
	BQ433140.1
	J03544.1			AAA59597.1
	U47025.1			AAB60395.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv779e214	Chr.20:25104610 - 25367702 on Build GRCh38	Gain	LOC101926889 LOC284798 PYGB ABHD12 ENTPD6 LOC105372580
nsv522873	Chr.20:23923336 - 26134874 on Build GRCh38	Gain	ENTPD6 LOC101926935 NANP LOC101926889 GINS1 LOC284798 ZNF337 LOC105372585 LOC101926955 CST7 ABHD12 SYNDIG1 FAM182B APMAP GGTLC1 NCOR1P1 LOC100134868 LOC105372580 FLJ33581 VSX1 LOC105372582 PYGB NINL ZNF337-AS1 ACSS1 FAM182A VN1R108P
nsv585746	Chr.20:25090818 - 25489420 on Build GRCh38	Gain	LOC101926889 GINS1 LOC284798 PYGB ABHD12 NINL ENTPD6 LOC105372580
dgv4290n100	Chr.20:25086650 - 25494993 on Build GRCh38	Gain	LOC101926889 GINS1 LOC284798 PYGB ABHD12 NINL ENTPD6 LOC105372580
nsv833948	Chr.20:25251090 - 25429904 on Build GRCh38	Loss	GINS1 PYGB ABHD12

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 catabolic process

Function(s)

protein binding
glycogen phosphorylase activity
pyridoxal phosphate binding