Hs03810701_cn

• Gene Symbol: PLEKHA5
• Assay Reference Genome Location: Chr.12:19151765 on build GRCh38
• Cytoband: 12p12.3

Target Gene Details

• Entrez Gene ID: 54477
• Gene Name: pleckstrin homology domain containing A5
• Gene Aliases: PEPP-2, PEPP2
• Location: Chr.12:19129680-19376400 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PLEKHA5	NM_001143821.2			NP_001137293.2
	NM_001190860.2			NP_001177789.2
	NM_001256470.1			NP_001243399.1
	NM_019012.5			NP_061885.2
	XM_005253400.1			XP_005253457.1
	XM_006719091.1			XP_006719154.1
	XM_006719093.1			XP_006719156.1
	XM_006719096.1			XP_006719159.1
	XM_011520714.1			XP_011519016.1
	XM_011520715.1			XP_011519017.1
	XM_011520716.1			XP_011519018.1
	XM_011520717.1			XP_011519019.1
	XM_017019495.1			XP_016874984.1
	XM_017019496.1			XP_016874985.1
	XM_017019499.1			XP_016874988.1
	XM_017019500.1			XP_016874989.1
	XM_017019501.1			XP_016874990.1
	XM_017019502.1			XP_016874991.1
	XM_017019503.1			XP_016874992.1
	AB051473.2
	AB642244.1
	AF302150.1			AAG22817.1
	AK026344.1
	AK295151.1
	AK297391.1
	BC044245.1			AAH44245.1
	BC070174.1			AAH70174.1
	BC127091.1
	BC127092.1
	DB186727.1
	DR000821.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1041486	Chr.12:19107917 - 19493057 on Build GRCh38	Gain	PLEKHA5 SRSF11P1 AEBP2
esv2422261	Chr.12:19109497 - 19353437 on Build GRCh38	Duplication	PLEKHA5 SRSF11P1
esv2422206	Chr.12:18800088 - 19411427 on Build GRCh38	Duplication	PLEKHA5 SRSF11P1 AEBP2
nsv557675	Chr.12:19146456 - 19316144 on Build GRCh38	Loss	PLEKHA5 SRSF11P1

More Information

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

Gene Ontology Categories:

Process(es)

biological_process
reproductive system development

Function(s)

protein binding
1-phosphatidylinositol binding
phosphatidylinositol-5-phosphate binding
phosphatidylinositol-3-phosphate binding
phosphatidylinositol-4-phosphate binding
phosphatidylinositol-3,5-bisphosphate binding