Hs07165745_cn

• Gene Symbol: PYGB
• Assay Reference Genome Location: Chr.20:25254764 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	LOC105372580 ABHD12 ENTPD6 LOC101926889 PYGB LOC284798
nsv522873	Chr.20:23923336 - 26134874 on Build GRCh38	Gain	VN1R108P LOC105372580 ENTPD6 LOC101926955 FAM182A NINL ZNF337 LOC284798 APMAP CST7 LOC105372582 GINS1 ABHD12 NANP GGTLC1 LOC100134868 FLJ33581 LOC105372585 FAM182B VSX1 LOC101926935 ACSS1 NCOR1P1 LOC101926889 PYGB SYNDIG1 ZNF337-AS1
nsv585746	Chr.20:25090818 - 25489420 on Build GRCh38	Gain	GINS1 LOC105372580 ABHD12 ENTPD6 LOC101926889 PYGB NINL LOC284798
dgv4290n100	Chr.20:25086650 - 25494993 on Build GRCh38	Gain	GINS1 LOC105372580 ABHD12 ENTPD6 LOC101926889 PYGB NINL LOC284798
nsv833948	Chr.20:25251090 - 25429904 on Build GRCh38	Loss	GINS1 ABHD12 PYGB

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