Hs04455710_cn

• Gene Symbol: MBTPS1
• Assay Reference Genome Location: Chr.16:84074180 on build GRCh38
• Cytoband: 16q23.3

Target Gene Details

• Entrez Gene ID: 8720
• Gene Name: membrane bound transcription factor peptidase, site 1
• Gene Aliases: PCSK8, S1P, SKI-1
• Location: Chr.16:84053761-84116943 on Build GRCh38
• Assay Gene Location: Within Intron 13

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MBTPS1	NM_003791.3			NP_003782.1
	XM_017023816.1			XP_016879305.1
	XM_017023817.1			XP_016879306.1
	AK091212.1
	AK291773.1
	AK299067.1
	BC114555.1			AAI14556.1
	BC114961.1			AAI14962.1
	BM048055.1
	D42053.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3639410	Chr.16:84055831 - 84075312 on Build GRCh38	Loss	MBTPS1
esv3892924	Chr.16:84014717 - 84091665 on Build GRCh38	Gain	SLC38A8 MBTPS1
nsv1065790	Chr.16:83830329 - 84243597 on Build GRCh38	Loss	TAF1C KCNG4 MLYCD HSDL1 SLC38A8 ADAD2 NECAB2 OSGIN1 MBTPS1 LOC105371371 LOC729887 DNAAF1
esv2761930	Chr.16:84007420 - 84312461 on Build GRCh38	Gain	TAF1C LOC105376777 KCNG4 HSDL1 SLC38A8 ADAD2 WFDC1 MBTPS1 LOC729887 DNAAF1
esv3892927	Chr.16:84058861 - 84081674 on Build GRCh38	Gain	MBTPS1
nsv1909	Chr.16:84031468 - 84076703 on Build GRCh38	Deletion	SLC38A8 MBTPS1
dgv546e214	Chr.16:84011032 - 84095132 on Build GRCh38	Gain	SLC38A8 MBTPS1
nsv457595	Chr.16:84013110 - 84091665 on Build GRCh38	Gain	SLC38A8 MBTPS1
nsv1059227	Chr.16:84029323 - 84233403 on Build GRCh38	Loss	TAF1C KCNG4 HSDL1 SLC38A8 ADAD2 MBTPS1 LOC729887 DNAAF1

More Information

Additional Information:

For this assay, SNP(s) [rs72799281] 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 -

serine protease

Gene Ontology Categories:

Process(es)

proteolysis
lysosome organization
cholesterol metabolic process
membrane protein intracellular domain proteolysis
response to endoplasmic reticulum stress
ATF6-mediated unfolded protein response
regulation of transcription factor import into nucleus

Function(s)

serine-type endopeptidase activity