Hs03758132_cn

• Gene Symbol: PFKP
• Assay Reference Genome Location: Chr.10:3092814 on build GRCh38
• Cytoband: 10p15.2

Target Gene Details

• Entrez Gene ID: 5214
• Gene Name: phosphofructokinase, platelet
• Gene Aliases: ATP-PFK, PFK-C, PFK-P, PFKF
• Location: Chr.10:3067475-3136805 on Build GRCh38
• Assay Gene Location: Within Intron 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PFKP	NM_001242339.1			NP_001229268.1
	NM_001323067.1			NP_001309996.1
	NM_001323068.1			NP_001309997.1
	NM_001323069.1			NP_001309998.1
	NM_001323071.1			NP_001310000.1
	NM_001323072.1			NP_001310001.1
	NM_002627.4			NP_002618.1
	XM_005252465.4			XP_005252522.1
	XM_005252466.4			XP_005252523.1
	XM_005252467.2			XP_005252524.1
	XM_006717449.1			XP_006717512.1
	AK092597.1
	AK291841.1
	AK308003.1
	BC002536.1			AAH02536.1
	BC029138.1			AAH29138.1
	D25328.1			BAA04998.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv549814	Chr.10:3055020 - 3170233 on Build GRCh38	Loss	SNORD142 LOC101927824 PITRM1 PFKP PITRM1-AS1
dgv932n54	Chr.10:2382612 - 3253481 on Build GRCh38	Gain	SNORD142 LOC105376351 LOC101927824 LOC107983989 PITRM1 LOC105376353 PFKP PITRM1-AS1
esv2730995	Chr.10:2770220 - 3706473 on Build GRCh38	Deletion	SNORD142 LOC101927824 LOC105376501 PITRM1 LOC105376360 LOC105376353 PFKP PITRM1-AS1
nsv428229	Chr.10:2618610 - 3156581 on Build GRCh38	Gain	SNORD142 LOC101927824 PITRM1 PFKP PITRM1-AS1
nsv549818	Chr.10:3081241 - 3227125 on Build GRCh38	Gain	SNORD142 PITRM1 PFKP PITRM1-AS1
dgv935n54	Chr.10:3044294 - 3125271 on Build GRCh38	Loss	LOC101927824 PFKP
esv2760124	Chr.10:2641047 - 3094525 on Build GRCh38	Gain	LOC101927824 PFKP
nsv517630	Chr.10:2632486 - 3097509 on Build GRCh38	Gain+Loss	LOC101927824 PFKP
nsv470913	Chr.10:3052993 - 3125271 on Build GRCh38	Loss	LOC101927824 PFKP
nsv825215	Chr.10:3058658 - 3099236 on Build GRCh38	Gain	LOC101927824 PFKP
nsv549810	Chr.10:3035272 - 3691194 on Build GRCh38	Gain	SNORD142 LOC101927824 LOC105376501 PITRM1 LOC105376360 LOC105376353 PFKP PITRM1-AS1

More Information

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

Panther Classification:

Molecular Function -

carbohydrate kinase, kinase, transferase, metabolite interconversion enzyme

Gene Ontology Categories:

Process(es)

fructose 6-phosphate metabolic process
canonical glycolysis
cell-cell adhesion
mitophagy in response to mitochondrial depolarization

Function(s)

6-phosphofructokinase activity
ATP binding
protein complex binding
metal ion binding
cadherin binding involved in cell-cell adhesion