Hs02787088_cn

• Gene Symbol: AZU1
• Assay Reference Genome Location: Chr.19:832033 on build GRCh38
• Cytoband: 19p13.3

Target Gene Details

• Entrez Gene ID: 566
• Gene Name: azurocidin 1
• Gene Aliases: AZAMP, AZU, CAP37, HBP, HUMAZUR, NAZC, hHBP
• Location: Chr.19:827826-832018 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
AZU1	NM_001700.4			NP_001691.1
	BC044940.1			AAH44940.1
	BU617927.1
	X58794.1			CAA41601.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv134n111	Chr.19:607984 - 967584 on Build GRCh38	Deletion	ELANE LOC101928450 FSTL3 HCN2 RNU6-9 RNF126 PRTN3 CFD AZU1 KISS1R PALM PLPPR3 ARID3A FGF22 MIR4745 MISP PRSS57 POLRMT MED16 PTBP1 R3HDM4 MIR3187
nsv578172	Chr.19:811414 - 841398 on Build GRCh38	Loss	PLPPR3 PRTN3 PTBP1 AZU1 MIR3187
nsv578167	Chr.19:797079 - 850574 on Build GRCh38	Loss	PLPPR3 MIR4745 PRTN3 PTBP1 AZU1 MIR3187
nsv953938	Chr.19:355801 - 1104501 on Build GRCh38	Deletion	ELANE THEG FSTL3 C2CD4C GRIN3B RNU6-2 CFD AZU1 KISS1R TPGS1 FGF22 MIR4745 POLRMT PTBP1 LOC105372235 WDR18 R3HDM4 MIR3187 LOC101928450 ARHGAP45 HCN2 RNU6-9 BSG RNF126 PRTN3 MADCAM1 GPX4 ABCA7 CNN2 POLR2E PALM CDC34 PLPPR3 ARID3A MISP PRSS57 SHC2 MED16 TMEM259 GZMM ODF3L2
nsv470101	Chr.19:401714 - 1008505 on Build GRCh38	Loss	ELANE FSTL3 C2CD4C GRIN3B CFD AZU1 KISS1R TPGS1 FGF22 MIR4745 POLRMT PTBP1 LOC105372235 WDR18 R3HDM4 MIR3187 LOC101928450 HCN2 RNU6-9 BSG RNF126 PRTN3 MADCAM1 PALM CDC34 PLPPR3 ARID3A MISP PRSS57 SHC2 MED16 GZMM ODF3L2

More Information

Additional Information:

For this assay, SNP(s) [rs74669793] 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 -

serine protease

Gene Ontology Categories:

Process(es)

microglial cell activation
proteolysis
inflammatory response
protein kinase C-activating G-protein coupled receptor signaling pathway
glial cell migration
positive regulation of gene expression
positive regulation of peptidyl-threonine phosphorylation
protein processing
antimicrobial humoral response
calcium-mediated signaling using intracellular calcium source
monocyte activation
positive regulation of tumor necrosis factor biosynthetic process
negative regulation of apoptotic process
regulation of vascular permeability
cellular extravasation
positive regulation of MHC class II biosynthetic process
positive regulation of cell adhesion
positive regulation of protein kinase activity
macrophage chemotaxis
positive regulation of interleukin-1 beta biosynthetic process
positive regulation of fractalkine biosynthetic process
positive regulation of phagocytosis
defense response to Gram-negative bacterium
induction of positive chemotaxis
defense response to virus
cell chemotaxis
protein kinase C signaling
neutrophil mediated killing of bacterium

Function(s)

serine-type endopeptidase activity
protein binding
heparin binding
peptidase activity
toxic substance binding
heparan sulfate proteoglycan binding