Hs05118134_cn

• Gene Symbol: PLEKHA1
• Assay Reference Genome Location: Chr.10:122399231 on build GRCh38
• Cytoband: 10q26.13

Target Gene Details

• Entrez Gene ID: 59338
• Gene Name: pleckstrin homology domain containing A1
• Gene Aliases: TAPP1
• Location: Chr.10:122374578-122432355 on Build GRCh38
• Assay Gene Location: Within Intron 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PLEKHA1	NM_001001974.2			NP_001001974.1
	NM_001195608.1			NP_001182537.1
	NM_021622.4			NP_067635.2
	XM_005270016.1			XP_005270073.1
	XM_005270019.1			XP_005270076.1
	XM_005270020.1			XP_005270077.1
	XM_005270021.4			XP_005270078.1
	XM_011540017.1			XP_011538319.1
	XM_011540018.1			XP_011538320.1
	XM_011540019.1			XP_011538321.1
	XM_011540021.1			XP_011538323.1
	XM_011540022.1			XP_011538324.1
	XM_011540024.1			XP_011538326.1
	XM_017016478.1			XP_016871967.1
	XM_017016479.1			XP_016871968.1
	XM_017016480.1			XP_016871969.1
	XM_017016481.1			XP_016871970.1
	XM_017016482.1			XP_016871971.1
	XM_017016483.1			XP_016871972.1
	XM_017016484.1			XP_016871973.1
	XM_017016485.1			XP_016871974.1
	XM_017016486.1			XP_016871975.1
	XM_017016487.1			XP_016871976.1
	XM_017016488.1			XP_016871977.1
	XM_017016489.1			XP_016871978.1
	XM_017016490.1			XP_016871979.1
	XM_017016491.1			XP_016871980.1
	AF286160.1			AAG15197.1
	AK057463.1
	AK314660.1
	BC001136.2			AAH01136.1
	BC042458.1			AAH42458.1
	DA923219.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1042640	Chr.10:122369174 - 122442149 on Build GRCh38	Loss	MIR3941 PLEKHA1
dgv987n100	Chr.10:122379070 - 122437149 on Build GRCh38	Loss	MIR3941 PLEKHA1
nsv552250	Chr.10:122388072 - 122405138 on Build GRCh38	Loss	PLEKHA1

More Information

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

Gene Ontology Categories:

Process(es)

luteinization
spermatogenesis
androgen metabolic process
estrogen metabolic process
post-embryonic development
phosphatidylinositol 3-kinase signaling
ruffle organization
Leydig cell differentiation
multicellular organism growth
establishment of protein localization
platelet-derived growth factor receptor signaling pathway
skeletal system morphogenesis
B cell receptor signaling pathway
negative regulation of protein kinase B signaling
palate development
face morphogenesis
cellular response to hydrogen peroxide

Function(s)

protein binding
lipid binding
PDZ domain binding
phosphatidylinositol-3,4-bisphosphate binding