Hs04036119_cn

• Gene Symbol: BPI
• Assay Reference Genome Location: Chr.20:38311342 on build GRCh38
• Cytoband: 20q11.23

Target Gene Details

• Entrez Gene ID: 671
• Gene Name: bactericidal/permeability-increasing protein
• Gene Aliases: BPIFD1, rBPI
• Location: Chr.20:38304150-38337503 on Build GRCh38
• Assay Gene Location: Within Intron 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
BPI	NM_001725.2			NP_001716.2
	AF322588.1			AAG42844.1
	AK296568.1
	AK315328.1
	AX713278.1			CAD88641.1
	AX746123.1			CAD97475.1
	AX752831.1			CAD99178.1
	BC040955.1			AAH40955.1
	DQ414688.1			ABD66755.1
	J04739.1			AAA51841.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1058457	Chr.20:38277492 - 38844429 on Build GRCh38	Loss	SNHG17 BPI SLC32A1 SNORA71C LBP ADIG SNHG11 SNORA71E ARHGAP40 SNORA71D SNORA71B ACTR5 RALGAPB LOC149684 SNORA71A PPP1R16B SNORA60 MIR548O2
nsv585964	Chr.20:38286018 - 38343306 on Build GRCh38	Loss	BPI LOC149684
esv2758794	Chr.20:38305977 - 38477514 on Build GRCh38	Gain	SNHG17 BPI SNORA71D SNORA71B SNORA71C RALGAPB SNORA71A LBP SNORA60 SNHG11 SNORA71E
esv35121	Chr.20:38305228 - 38453502 on Build GRCh38	Gain	SNHG17 BPI SNORA71D SNORA71B SNORA71C SNORA71A LBP SNORA60 SNHG11 SNORA71E
nsv817893	Chr.20:38308738 - 38451364 on Build GRCh38	Gain	SNHG17 BPI SNORA71D SNORA71B SNORA71C SNORA71A LBP SNORA60 SNHG11 SNORA71E
nsv1063495	Chr.20:38295280 - 38457885 on Build GRCh38	Gain	SNHG17 BPI SNORA71D SNORA71B SNORA71C SNORA71A LBP SNORA60 SNHG11 SNORA71E
dgv4309n100	Chr.20:38271961 - 38345891 on Build GRCh38	Loss	BPI LOC149684
esv3645775	Chr.20:38264344 - 38392152 on Build GRCh38	Loss	BPI LOC149684 LBP

More Information

Additional Information:

For this assay, SNP(s) [rs76115116] 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

Gene Ontology Categories:

Process(es)

immune response
negative regulation of interleukin-6 production
negative regulation of interleukin-8 production
negative regulation of tumor necrosis factor production
negative regulation of macrophage activation
defense response to Gram-negative bacterium

Function(s)

lipopolysaccharide binding