Hs01379535_cn

• Gene Symbol: NFKBIA
• Assay Reference Genome Location: Chr.14:35402785 on build GRCh38
• Cytoband: 14q13.2

Target Gene Details

• Entrez Gene ID: 4792
• Gene Name: NFKB inhibitor alpha
• Gene Aliases: IKBA, MAD-3, NFKBI
• Location: Chr.14:35401510-35404754 on Build GRCh38
• Assay Gene Location: Overlaps Intron 4 - Exon 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NFKBIA	NM_020529.2			NP_065390.1
	AK311515.1
	AK313421.1
	AY033600.1			AAK51149.1
	BC002601.2			AAH02601.1
	BC004983.1			AAH04983.1
	BT007091.1			AAP35754.1
	M69043.1			AAA16489.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv564320	Chr.14:35402754 - 35406201 on Build GRCh38	Loss	NFKBIA
nsv564319	Chr.14:35402011 - 35403586 on Build GRCh38	Loss	NFKBIA

More Information

• Set Membership: Intragenic, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

protein import into nucleus, translocation
stimulatory C-type lectin receptor signaling pathway
apoptotic process
cytoplasmic sequestering of NF-kappaB
negative regulation of macrophage derived foam cell differentiation
positive regulation of cholesterol efflux
negative regulation of lipid storage
viral process
lipopolysaccharide-mediated signaling pathway
negative regulation of NF-kappaB transcription factor activity
positive regulation of cellular protein metabolic process
response to muramyl dipeptide
toll-like receptor 4 signaling pathway
response to muscle stretch
Fc-epsilon receptor signaling pathway
regulation of cell proliferation
regulation of NF-kappaB import into nucleus
cytoplasmic sequestering of transcription factor
negative regulation of apoptotic process
response to exogenous dsRNA
negative regulation of DNA binding
negative regulation of myeloid cell differentiation
negative regulation of Notch signaling pathway
positive regulation of transcription from RNA polymerase II promoter
T cell receptor signaling pathway
positive regulation of NF-kappaB transcription factor activity
cellular response to cold
nucleotide-binding oligomerization domain containing 1 signaling pathway
nucleotide-binding oligomerization domain containing 2 signaling pathway
cellular response to cytokine stimulus
cellular response to organic cyclic compound

Function(s)

protein binding
transcription factor binding
nuclear localization sequence binding
enzyme binding
heat shock protein binding
ubiquitin protein ligase binding
protein complex binding
identical protein binding
NF-kappaB binding