Hs07214417_cn

• Gene Symbol: PYGB
• Assay Reference Genome Location: Chr.20:25251561 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 ENTPD6 ABHD12 PYGB LOC284798 LOC101926889
nsv522873	Chr.20:23923336 - 26134874 on Build GRCh38	Gain	SYNDIG1 ENTPD6 VN1R108P CST7 APMAP ACSS1 LOC284798 GGTLC1 FAM182B VSX1 ZNF337 ZNF337-AS1 NCOR1P1 LOC105372580 LOC101926955 FAM182A LOC101926935 ABHD12 NINL LOC101926889 LOC100134868 NANP GINS1 FLJ33581 PYGB LOC105372582 LOC105372585
nsv585746	Chr.20:25090818 - 25489420 on Build GRCh38	Gain	LOC105372580 GINS1 ENTPD6 ABHD12 PYGB LOC284798 NINL LOC101926889
dgv4290n100	Chr.20:25086650 - 25494993 on Build GRCh38	Gain	LOC105372580 GINS1 ENTPD6 ABHD12 PYGB LOC284798 NINL LOC101926889
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