Hs03011282_cn

• Gene Symbol: PPEF1
• Assay Reference Genome Location: Chr.X:18700462 on build GRCh38
• Cytoband: Xp22.13

Target Gene Details

• Entrez Gene ID: 5475
• Gene Name: protein phosphatase with EF-hand domain 1
• Gene Aliases: PP7, PPEF, PPP7C, PPP7CA
• Location: Chr.X:18675909-18827921 on Build GRCh38
• Assay Gene Location: Overlaps Exon 5 - Intron 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PPEF1	NM_006240.2			NP_006231.2
	NM_152224.1			NP_689410.1
	NM_152226.1			NP_689412.1
	XM_005274553.2			XP_005274610.1
	XM_017029612.1			XP_016885101.1
	AK292235.1
	BC036026.1			AAH36026.1
	X97867.1			CAA66461.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv33517	Chr.X:18661048 - 19128069 on Build GRCh38	Loss	PPEF1-AS1 ADGRG2 PHKA2 PPEF1 LOC101928415 RS1 PHKA2-AS1
esv2752317	Chr.X:18691267 - 19292303 on Build GRCh38	Gain	PPEF1-AS1 ADGRG2 PHKA2 PPEF1 LOC101928415 PHKA2-AS1

More Information

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

Panther Classification:

Molecular Function -

protein phosphatase

Gene Ontology Categories:

Process(es)

protein dephosphorylation
regulation of rhodopsin mediated signaling pathway
detection of stimulus involved in sensory perception

Function(s)

protein serine/threonine phosphatase activity
iron ion binding
calcium ion binding
protein binding
manganese ion binding