Hs01234930_cn

• Gene Symbol: PHKG1
• Assay Reference Genome Location: Chr.7:56092987 on build GRCh38
• Cytoband: 7p11.2

Target Gene Details

• Entrez Gene ID: 5260
• Gene Name: phosphorylase kinase catalytic subunit gamma 1
• Gene Aliases: PHKG
• Location: Chr.7:56079927-56093450 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PHKG1	NM_001258459.1			NP_001245388.1
	NM_001258460.1			NP_001245389.1
	NM_006213.4			NP_006204.1
	NR_047689.1
	XM_005271772.4	1	461	XP_005271829.1
	XM_017012324.1			XP_016867813.1
	XM_017012326.1	1	464	XP_016867815.1
	AK293180.1
	AK299429.1
	AK300928.1
	AK309503.1
	AK312851.1
	BC051327.1			AAH51327.1
	DB171823.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3613258	Chr.7:55963379 - 56119128 on Build GRCh38	Gain	SUMF2 CHCHD2 PHKG1 NUPR2 PSPH GBAS SNORA15 CCT6A
esv2761334	Chr.7:55755888 - 56357046 on Build GRCh38	Gain	SUMF2 CHCHD2 ZNF713 PHKG1 NUPR2 PSPHP1 PSPH MRPS17 SEPT14 GBAS SNORA15 CCT6A
dgv1201e199	Chr.7:55674375 - 56426809 on Build GRCh38	Deletion	SUMF2 PHKG1 NUPR2 PSPHP1 MRPS17 SEPT14 LOC101060341 CCT6A LOC107986800 CHCHD2 ZNF713 LOC650226 PSPH FKBP9P1 GBAS SNORA15
esv28230	Chr.7:55552107 - 56317719 on Build GRCh38	Gain+Loss	SUMF2 PHKG1 NUPR2 PSPHP1 MRPS17 SEPT14 LOC101060341 CCT6A CHCHD2 ZNF713 VOPP1 PSPH FKBP9P1 GBAS SNORA15
esv2734448	Chr.7:55785310 - 57103280 on Build GRCh38	Deletion	SUMF2 LOC101928401 LOC100130849 LOC100240728 LOC401357 PHKG1 NUPR2 MRPS17 SEPT14 LOC100287294 DKFZp434L192 CCT6A LOC107986800 CHCHD2 ZNF713 LOC650226 PSPH GBAS SNORA15 MIR4283-1
esv3613248	Chr.7:55667080 - 56415551 on Build GRCh38	Gain	SUMF2 PHKG1 NUPR2 PSPHP1 MRPS17 SEPT14 LOC101060341 CCT6A LOC107986800 CHCHD2 ZNF713 PSPH FKBP9P1 GBAS SNORA15
esv3613259	Chr.7:56049407 - 56329524 on Build GRCh38	Gain	SUMF2 CHCHD2 PHKG1 NUPR2 PSPH SNORA15 CCT6A
esv3576358	Chr.7:56081891 - 56564786 on Build GRCh38	Gain	LOC101928401 LOC107986800 LOC100240728 CHCHD2 PHKG1 LOC650226 NUPR2 DKFZp434L192
esv2734447	Chr.7:55664175 - 56422045 on Build GRCh38	Deletion	SUMF2 PHKG1 NUPR2 PSPHP1 MRPS17 SEPT14 LOC101060341 CCT6A LOC107986800 CHCHD2 ZNF713 PSPH FKBP9P1 GBAS SNORA15

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

non-receptor serine/threonine protein kinase

Gene Ontology Categories:

Process(es)

carbohydrate metabolic process
glycogen biosynthetic process
glycogen catabolic process
protein phosphorylation

Function(s)

phosphorylase kinase activity
calmodulin binding
ATP binding
enzyme binding
tau-protein kinase activity