Hs01313869_cn

• Gene Symbol: PLEKHJ1
• Assay Reference Genome Location: Chr.19:2233142 on build GRCh38
• Cytoband: 19p13.3

Target Gene Details

• Entrez Gene ID: 55111
• Gene Name: pleckstrin homology domain containing J1
• Gene Aliases: GNRPX
• Location: Chr.19:2229952-2236724 on Build GRCh38
• Assay Gene Location: Overlaps Intron 4 - Exon 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PLEKHJ1	NM_001300836.1			NP_001287765.1
	NM_018049.2			NP_060519.1
	XM_017026924.1			XP_016882413.1
	XM_017026925.1			XP_016882414.1
	XM_017026926.1			XP_016882415.1
	XM_017026927.1			XP_016882416.1
	XM_017026928.1			XP_016882417.1
	AK001159.1			BAA91525.1
	AK092742.1
	AK097723.1
	AK098725.1
	BC003084.2			AAH03084.1
	BC008966.2			AAH08966.1
	BQ013786.1
	CN365243.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv2389	Chr.19:2206862 - 2240689 on Build GRCh38	Insertion	DOT1L MIR6789 PLEKHJ1 MIR1227 SF3A2 LOC105372239
nsv578382	Chr.19:2194897 - 2260362 on Build GRCh38	Loss	MIR4321 DOT1L MIR6789 AMH PLEKHJ1 JSRP1 MIR1227 SF3A2 LOC105372239
nsv953943	Chr.19:2169602 - 2236001 on Build GRCh38	Deletion	DOT1L MIR6789 PLEKHJ1 MIR1227 LOC105372239
dgv6218n54	Chr.19:2221793 - 2336009 on Build GRCh38	Loss	LINGO3 MIR4321 PLEKHJ1 OAZ1 JSRP1 LOC105372239 LSM7 SPPL2B DOT1L MIR6789 AMH C19orf35 MIR1227 SF3A2
nsv833706	Chr.19:2131211 - 2249764 on Build GRCh38	Loss	DOT1L MIR6789 AMH PLEKHJ1 MIR1227 SF3A2 LOC105372239 AP3D1
nsv578383	Chr.19:2214058 - 2285197 on Build GRCh38	Loss	MIR4321 DOT1L MIR6789 AMH C19orf35 PLEKHJ1 OAZ1 JSRP1 MIR1227 SF3A2 LOC105372239
nsv833707	Chr.19:2187092 - 2372223 on Build GRCh38	Loss	LINGO3 MIR4321 PLEKHJ1 OAZ1 JSRP1 LOC105372239 LSM7 SPPL2B DOT1L MIR6789 AMH C19orf35 MIR1227 SF3A2

More Information

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

Panther Classification:

Molecular Function -

membrane traffic protein