Hs04016231_cn

• Gene Symbol: SPPL2B
• Assay Reference Genome Location: Chr.19:2331371 on build GRCh38
• Cytoband: 19p13.3

Target Gene Details

• Entrez Gene ID: 56928
• Gene Name: signal peptide peptidase like 2B
• Gene Aliases: IMP-4, IMP4, PSH4, PSL1
• Location: Chr.19:2328571-2355102 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SPPL2B	NM_001077238.1			NP_001070706.1
	NM_152988.2			NP_694533.1
	XM_011528138.2			XP_011526440.1
	XM_017027016.1			XP_016882505.1
	XM_017027017.1			XP_016882506.1
	XM_017027019.1			XP_016882508.1
	AB040965.1
	AJ345027.1			CAC87788.1
	AJ420897.1			CAD13134.1
	AK308973.1
	AK309122.1
	AY169315.1			AAO12540.1
	BC001788.1
	BC028391.2			AAH28391.2
	BC093046.1			AAH93046.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1160562	Chr.19:2328434 - 2460264 on Build GRCh38	Deletion	MIR7108 LSM7 LOC101928602 SPPL2B TIMM13 LMNB2 TMPRSS9
esv3643422	Chr.19:2314254 - 2337163 on Build GRCh38	Gain	LSM7 SPPL2B
dgv6218n54	Chr.19:2221793 - 2336009 on Build GRCh38	Loss	JSRP1 AMH LSM7 MIR6789 C19orf35 LINGO3 SPPL2B MIR4321 MIR1227 PLEKHJ1 LOC105372239 DOT1L OAZ1 SF3A2
nsv953944	Chr.19:2283702 - 2525802 on Build GRCh38	Deletion	LOC101929097 MIR7108 LSM7 LOC101928602 GADD45B LINGO3 SPPL2B TIMM13 LMNB2 TMPRSS9 GNG7
nsv833707	Chr.19:2187092 - 2372223 on Build GRCh38	Loss	JSRP1 AMH LSM7 MIR6789 C19orf35 LINGO3 SPPL2B MIR4321 MIR1227 PLEKHJ1 LOC105372239 DOT1L OAZ1 SF3A2

More Information

Additional Information:

For this assay, SNP(s) [rs80292256] 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, Intronic, 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