Hs02303490_cn

• Gene Symbol: PLEKHJ1
• Assay Reference Genome Location: Chr.19:2233249 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: Within Exon 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PLEKHJ1	NM_001300836.1			NP_001287765.1
	NM_018049.2	6	1146	NP_060519.1
	XM_017026924.1	4	1649	XP_016882413.1
	XM_017026925.1	4	1640	XP_016882414.1
	XM_017026926.1	5	1561	XP_016882415.1
	XM_017026927.1	5	1552	XP_016882416.1
	XM_017026928.1	6	1460	XP_016882417.1
	AK001159.1	6	1122	BAA91525.1
	AK092742.1	3	2763
	AK097723.1	7	2153
	AK098725.1	6	1236
	BC003084.2	6	1067	AAH03084.1
	BC008966.2	6	1093	AAH08966.1
	BQ013786.1	1	117
	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	MIR1227 DOT1L PLEKHJ1 MIR6789 LOC105372239 SF3A2
nsv578382	Chr.19:2194897 - 2260362 on Build GRCh38	Loss	MIR1227 JSRP1 AMH DOT1L PLEKHJ1 MIR4321 MIR6789 LOC105372239 SF3A2
dgv6218n54	Chr.19:2221793 - 2336009 on Build GRCh38	Loss	SPPL2B OAZ1 AMH LSM7 C19orf35 MIR4321 LOC105372239 SF3A2 LINGO3 MIR1227 JSRP1 DOT1L PLEKHJ1 MIR6789
nsv953943	Chr.19:2169602 - 2236001 on Build GRCh38	Deletion	MIR1227 DOT1L PLEKHJ1 MIR6789 LOC105372239
nsv833706	Chr.19:2131211 - 2249764 on Build GRCh38	Loss	MIR1227 AMH DOT1L PLEKHJ1 AP3D1 MIR6789 LOC105372239 SF3A2
nsv578383	Chr.19:2214058 - 2285197 on Build GRCh38	Loss	MIR1227 OAZ1 JSRP1 AMH DOT1L PLEKHJ1 C19orf35 MIR4321 MIR6789 LOC105372239 SF3A2
nsv833707	Chr.19:2187092 - 2372223 on Build GRCh38	Loss	SPPL2B OAZ1 AMH LSM7 C19orf35 MIR4321 LOC105372239 SF3A2 LINGO3 MIR1227 JSRP1 DOT1L PLEKHJ1 MIR6789

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

membrane traffic protein