Hs03938482_cn

• Gene Symbol: CYBA
• Assay Reference Genome Location: Chr.16:88645361 on build GRCh38
• Cytoband: 16q24.2

Target Gene Details

• Entrez Gene ID: 1535
• Gene Name: cytochrome b-245 alpha chain
• Gene Aliases: p22-PHOX
• Location: Chr.16:88643289-88651084 on Build GRCh38
• Assay Gene Location: Within Exon 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CYBA	NM_000101.3			NP_000092.2
	XM_011522905.2	6	504	XP_011521207.1
	AK097127.1	6	991
	AK300049.1
	BC006465.1			AAH06465.1
	BT006861.1			AAP35507.1
	BX109994.1
	M21186.1			AAA90925.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1926	Chr.16:88626290 - 88660544 on Build GRCh38	Insertion	IL17C CYBA ZC3H18 MVD
esv3639554	Chr.16:88641322 - 88654848 on Build GRCh38	Loss	CYBA MVD
nsv833325	Chr.16:88553738 - 88698194 on Build GRCh38	Loss	SNAI3 IL17C ZC3H18-AS1 SNAI3-AS1 CYBA ZC3H18 MVD RNF166
nsv952070	Chr.16:88257295 - 88780192 on Build GRCh38	Deletion	IL17C ZFPM1 SNAI3-AS1 CYBA LOC100289580 ZC3H18 MVD LOC339059 MIR4722 LOC107984862 SNAI3 CTU2 PIEZO1 ZC3H18-AS1 MIR5189 RNF166 ZNF469
nsv482951	Chr.16:88633593 - 90228345 on Build GRCh38	Loss	LOC105371409 CDT1 LOC400558 GALNS SNAI3-AS1 PABPN1L LOC339059 MIR4722 PIEZO1 LOC107984817 SPATA2L RPL13 DPEP1 LOC101927817 AFG3L1P SNORD68 SLC22A31 ANKRD11 DEF8 TCF25 ZNF276 CTU2 FANCA GAS8 LOC107987238 CBFA2T3 FAM157C RNF166 APRT GAS8-AS1 IL17C CPNE7 CENPBD1 LOC100287036 LOC100129697 ZNF778 LOC105371414 MC1R LOC105371419 URAHP PRDM7 TUBB3 LINC00304 VPS9D1 CDH15 SPIRE2 SPATA33 CYBA SPG7 LOC100289580 MVD CDK10 TRAPPC2L LOC101927793 DBNDD1 SNAI3 ACSF3 VPS9D1-AS1 TUBB8P7 CHMP1A

More Information

Additional Information:

For this assay, SNP(s) [rs66772379] 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, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

response to reactive oxygen species
positive regulation of endothelial cell proliferation
antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent
negative regulation of glomerular filtration by angiotensin
superoxide metabolic process
inflammatory response
smooth muscle hypertrophy
cytochrome complex assembly
positive regulation of cell growth
response to nutrient levels
positive regulation of interleukin-6 production
positive regulation of tumor necrosis factor production
positive regulation of superoxide anion generation
positive regulation of toll-like receptor 2 signaling pathway
response to drug
superoxide anion generation
innate immune response
cell redox homeostasis
respiratory burst
vascular endothelial growth factor receptor signaling pathway
positive regulation of smooth muscle cell proliferation
hydrogen peroxide biosynthetic process
positive regulation of phagocytosis
regulation of release of sequestered calcium ion into cytosol
oxidation-reduction process
positive regulation of mucus secretion
response to interleukin-1
cellular response to amino acid stimulus
cellular response to mechanical stimulus
cellular response to glucose stimulus
cellular response to tumor necrosis factor
cellular response to organic cyclic compound
cellular response to gamma radiation
positive regulation of defense response to bacterium
positive regulation of reactive oxygen species biosynthetic process

Function(s)

protein binding
electron carrier activity
superoxide-generating NADPH oxidase activity
SH3 domain binding
heme binding
metal ion binding
protein heterodimerization activity