Hs01413833_cn

• Gene Symbol: PFKFB4
• Assay Reference Genome Location: Chr.3:48525690 on build GRCh38
• Cytoband: 3p21.31

Target Gene Details

• Entrez Gene ID: 5210
• Gene Name: 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4
• Gene Aliases: -
• Location: Chr.3:48517684-48562383 on Build GRCh38
• Assay Gene Location: Overlaps Intron 14 - Exon 15

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PFKFB4	NM_001317134.1			NP_001304063.1
	NM_001317135.1			NP_001304064.1
	NM_001317136.1			NP_001304065.1
	NM_001317137.1			NP_001304066.1
	NM_001317138.1			NP_001304067.1
	NM_004567.3			NP_004558.1
	XM_011533829.2			XP_011532131.1
	XM_017006614.1			XP_016862103.1
	XM_017006615.1			XP_016862104.1
	XM_017006616.1			XP_016862105.1
	XM_017006617.1			XP_016862106.1
	AF108765.1			AAD09427.1
	AK298732.1
	AK299097.1
	AK312623.1
	AY707863.1			AAU11326.1
	AY714243.1			AAU14998.1
	AY756062.1			AAV28717.1
	AY756063.1			AAV28718.1
	AY756064.1			AAV28719.1
	BC010269.1			AAH10269.1
	D49818.1			BAA18921.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1004383	Chr.3:48506361 - 48612339 on Build GRCh38	Loss	MIR711 PFKFB4 UCN2 MIR6823 COL7A1 UQCRC1 SNORA94
nsv834684	Chr.3:48344209 - 48551890 on Build GRCh38	Gain	PLXNB1 TMA7 TREX1 SHISA5 ATRIP PFKFB4 FBXW12 MIR6823 CCDC51
nsv523981	Chr.3:48478880 - 48683607 on Build GRCh38	Loss	TMEM89 MIR711 SHISA5 PFKFB4 COL7A1 MIR4793 SLC26A6 UCN2 MIR6823 CELSR3-AS1 UQCRC1 MIR6824 NCKIPSD CELSR3 SNORA94

More Information

• Set Membership: Intragenic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

carbohydrate phosphatase

Gene Ontology Categories:

Process(es)

fructose metabolic process
fructose 2,6-bisphosphate metabolic process
dephosphorylation
carbohydrate phosphorylation
canonical glycolysis

Function(s)

6-phosphofructo-2-kinase activity
fructose-2,6-bisphosphate 2-phosphatase activity
ATP binding