Hs01036760_cn

• Gene Symbol: PYGB
• Assay Reference Genome Location: Chr.20:25248139 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 Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PYGB	NM_002862.3	1	70	NP_002853.2
	AB209080.1			BAD92317.1
	AK299697.1	1	55
	AK309036.1	1	68
	BC017045.2	1	45	AAH17045.1
	BC030795.2			AAH30795.1
	BQ433140.1	1	70
	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 LOC101926889 PYGB LOC284798
nsv828708	Chr.20:25243259 - 25250965 on Build GRCh38	Gain	LOC105372580 PYGB
nsv522873	Chr.20:23923336 - 26134874 on Build GRCh38	Gain	FAM182A LOC105372582 LOC105372585 LOC100134868 LOC284798 LOC105372580 ZNF337 LOC101926889 ZNF337-AS1 LOC101926935 FLJ33581 APMAP CST7 NANP NINL GGTLC1 SYNDIG1 GINS1 VSX1 FAM182B ACSS1 ENTPD6 LOC101926955 NCOR1P1 ABHD12 VN1R108P PYGB
nsv585746	Chr.20:25090818 - 25489420 on Build GRCh38	Gain	GINS1 LOC105372580 NINL ENTPD6 ABHD12 LOC101926889 PYGB LOC284798
dgv4290n100	Chr.20:25086650 - 25494993 on Build GRCh38	Gain	GINS1 LOC105372580 NINL ENTPD6 ABHD12 LOC101926889 PYGB LOC284798

More Information

• Set Membership: Intragenic, 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