Hs00213689_cn

• Gene Symbol: PLEKHJ1
• Assay Reference Genome Location: Chr.19:2233872 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	523	NP_060519.1
	XM_017026924.1	4	1026	XP_016882413.1
	XM_017026925.1	4	1017	XP_016882414.1
	XM_017026926.1	5	938	XP_016882415.1
	XM_017026927.1	5	929	XP_016882416.1
	XM_017026928.1	6	837	XP_016882417.1
	AK001159.1	6	499	BAA91525.1
	AK092742.1	3	2140
	AK097723.1	7	1530
	AK098725.1	6	613
	BC003084.2	6	444	AAH03084.1
	BC008966.2	6	470	AAH08966.1
	CN365243.1
	CR457253.1			CAG33534.1

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

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

membrane traffic protein