Hs01005800_cn

• Gene Symbol: PLEKHJ1
• Assay Reference Genome Location: Chr.19:2234203 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 3 - 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	2	1897
	AK097723.1
	AK098725.1
	BC003084.2			AAH03084.1
	BC008966.2			AAH08966.1
	CN365243.1
	CR457253.1			CAG33534.1
	HY085955.1
	HY101097.1

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

More Information

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

Panther Classification:

Molecular Function -

membrane traffic protein