Hs03893068_cn

• Gene Symbol: SPPL2A
• Assay Reference Genome Location: Chr.15:50730957 on build GRCh38
• Cytoband: 15q21.2

Target Gene Details

• Entrez Gene ID: 84888
• Gene Name: signal peptide peptidase like 2A
• Gene Aliases: IMP3, PSL2
• Location: Chr.15:50702266-50765713 on Build GRCh38
• Assay Gene Location: Overlaps Intron 10 - Exon 10

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SPPL2A	NM_032802.3			NP_116191.2
	XM_005254722.3			XP_005254779.1
	XM_017022680.1			XP_016878169.1
	XM_017022681.1			XP_016878170.1
	AJ345028.1			CAC87789.1
	AJ420896.1			CAD13133.1
	AK027446.1			BAB55117.1
	AK075454.1			BAC11630.1
	AK315651.1
	AY169314.1			AAO12539.1
	BC025740.1			AAH25740.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1044320	Chr.15:50724167 - 50781864 on Build GRCh38	Loss	SPPL2A
nsv471242	Chr.15:50478671 - 50892386 on Build GRCh38	Gain	TRPM7 SPPL2A USP8 USP50
nsv569398	Chr.15:50496928 - 51002798 on Build GRCh38	Loss	TRPM7 SPPL2A USP8 DCAF13P3 AP4E1 USP50
nsv1047443	Chr.15:50452584 - 51354826 on Build GRCh38	Gain	TRPM7 MIR7973-1 PIRC66 GLDN MIR4713 SPPL2A TNFAIP8L3 USP8 CYP19A1 AP4E1 USP50 MIR7973-2 DCAF13P3
nsv457137	Chr.15:50726920 - 50825327 on Build GRCh38	Loss	SPPL2A
nsv1051400	Chr.15:50598136 - 50754086 on Build GRCh38	Gain	TRPM7 SPPL2A
nsv1043273	Chr.15:50712487 - 50751560 on Build GRCh38	Loss	SPPL2A
dgv2594n100	Chr.15:50469213 - 50823338 on Build GRCh38	Gain	TRPM7 SPPL2A USP8 USP50
dgv4526n54	Chr.15:50582767 - 51475068 on Build GRCh38	Gain	TRPM7 MIR7973-1 PIRC66 GLDN DMXL2 MIR4713 SPPL2A TNFAIP8L3 MIR7973-2 CYP19A1 DCAF13P3 AP4E1

More Information

Additional Information:

For this assay, SNP(s) [rs76947817] 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, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

aspartic protease

Gene Ontology Categories:

Process(es)

signal peptide processing
membrane protein ectodomain proteolysis
membrane protein intracellular domain proteolysis
membrane protein proteolysis
regulation of immune response

Function(s)

protein binding
aspartic endopeptidase activity, intramembrane cleaving
protein homodimerization activity