Hs07141192_cn

• Gene Symbol: PLEKHF1
• Assay Reference Genome Location: Chr.19:29667757 on build GRCh38
• Cytoband: 19q12

Target Gene Details

• Entrez Gene ID: 79156
• Gene Name: pleckstrin homology and FYVE domain containing 1
• Gene Aliases: APPD, LAPF, PHAFIN1, ZFYVE15
• Location: Chr.19:29665420-29675477 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PLEKHF1	NM_024310.4			NP_077286.3
	XM_005259256.3			XP_005259313.1
	XM_011527309.2			XP_011525611.1
	AK027758.1			BAB55349.1
	AK225814.1
	AK301616.1
	AY037145.2			AAK67626.2
	BC002744.2			AAH02744.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1061604	Chr.19:28373028 - 29773397 on Build GRCh38	Loss	LOC101927210 LINC00906 LINC01532 LOC102724908 LOC100420587 POP4 UQCRFS1 LOC102724958 VSTM2B C19orf12 PLEKHF1 LOC284395
nsv833799	Chr.19:29550565 - 29683695 on Build GRCh38	Gain	POP4 VSTM2B PLEKHF1

More Information

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

Gene Ontology Categories:

Process(es)

apoptotic process
endosome organization
positive regulation of autophagy
vesicle organization
protein localization to plasma membrane
positive regulation of intrinsic apoptotic signaling pathway

Function(s)

protein binding
phosphatidylinositol-5-phosphate binding
phosphatidylinositol-3-phosphate binding
metal ion binding
phosphatidylinositol-4-phosphate binding