Hs07398507_cn

• Gene Symbol: PSAPL1
• Assay Reference Genome Location: Chr.4:7431379 on build GRCh38
• Cytoband: 4p16.1

Target Gene Details

• Entrez Gene ID: 768239
• Gene Name: prosaposin-like 1 (gene/pseudogene)
• Gene Aliases: -
• Location: Chr.4:7430294-7434973 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PSAPL1	NM_001085382.1	1	3595	NP_001078851.1
	DQ991252.1	1	3595

Target Gene Details

• Entrez Gene ID: 57537
• Gene Name: sortilin related VPS10 domain containing receptor 2
• Gene Aliases: -
• Location: Chr.4:7192607-7742837 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SORCS2	NM_020777.2			NP_065828.2
	XM_005247987.4			XP_005248044.2
	XM_011513514.2			XP_011511816.1
	XM_011513515.2			XP_011511817.1
	XM_011513516.2			XP_011511818.1
	XM_017008481.1			XP_016863970.1
	AF286190.1			AAL04014.1
	AK295629.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv949781	Chr.4:7412874 - 7473273 on Build GRCh38	Deletion	MIR4274 PSAPL1 SORCS2
nsv461203	Chr.4:7422024 - 7432880 on Build GRCh38	Loss	PSAPL1 SORCS2
nsv593569	Chr.4:7289636 - 7624409 on Build GRCh38	Gain	MIR4274 MIR4798 PSAPL1 SORCS2
nsv1003679	Chr.4:7317384 - 7447535 on Build GRCh38	Gain	PSAPL1 SORCS2
nsv508994	Chr.4:7206788 - 7502929 on Build GRCh38	Insertion	MIR4274 MIR4798 PSAPL1 SORCS2
nsv593572	Chr.4:7426172 - 7435637 on Build GRCh38	Loss	PSAPL1 SORCS2
nsv469758	Chr.4:7368356 - 7544523 on Build GRCh38	Loss	MIR4274 PSAPL1 SORCS2

More Information

Additional Information:

For this assay, SNP(s) [rs74563302] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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

Panther Classification:

Molecular Function -

scaffold/adaptor protein, membrane traffic protein

Gene Ontology Categories:

Process(es)

glycosphingolipid metabolic process
adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway
regulation of lipid metabolic process
positive regulation of catalytic activity
prostate gland growth
epithelial cell differentiation involved in prostate gland development
neuropeptide signaling pathway

Function(s)

G-protein coupled receptor binding
enzyme activator activity
neuropeptide receptor activity