Hs05008776_cn

• Gene Symbol: BRAF
• Assay Reference Genome Location: Chr.7:140739668 on build GRCh38
• Cytoband: 7q34

Target Gene Details

• Entrez Gene ID: 673
• Gene Name: B-Raf proto-oncogene, serine/threonine kinase
• Gene Aliases: B-RAF1, B-raf, BRAF1, NS7, RAFB1
• Location: Chr.7:140719331-140924764 on Build GRCh38
• Assay Gene Location: Within Intron 18

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
BRAF	NM_004333.4			NP_004324.2
	XM_005250045.2			XP_005250102.1
	XM_017012558.1			XP_016868047.1
	XM_017012559.1			XP_016868048.1
	AK314346.1
	BC101757.1			AAI01758.1
	BC112079.1			AAI12080.1
	BM263585.1
	M21001.1			AAA96495.1
	M95712.2			AAA35609.2

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1015269	Chr.7:140712664 - 140759021 on Build GRCh38	Gain	BRAF
nsv831158	Chr.7:140692422 - 140902515 on Build GRCh38	Loss	NDUFB2 NDUFB2-AS1 ADCK2 BRAF

More Information

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

Panther Classification:

Molecular Function -

non-receptor serine/threonine protein kinase

Gene Ontology Categories:

Process(es)

MAPK cascade
activation of MAPKK activity
myeloid progenitor cell differentiation
protein phosphorylation
visual learning
organ morphogenesis
positive regulation of gene expression
negative regulation of fibroblast migration
glucose transport
thyroid gland development
positive regulation of peptidyl-serine phosphorylation
somatic stem cell population maintenance
cellular response to drug
regulation of cell proliferation
negative regulation of apoptotic process
CD4-positive, alpha-beta T cell differentiation
positive T cell selection
response to peptide hormone
negative regulation of neuron apoptotic process
thymus development
positive regulation of axon regeneration
positive regulation of axonogenesis
protein heterooligomerization
positive regulation of stress fiber assembly
response to cAMP
long-term synaptic potentiation
head morphogenesis
face development
positive regulation of ERK1 and ERK2 cascade
cellular response to calcium ion
establishment of protein localization to membrane
positive regulation of substrate adhesion-dependent cell spreading
negative regulation of synaptic vesicle exocytosis
negative regulation of endothelial cell apoptotic process

Function(s)

protein kinase activity
protein serine/threonine kinase activity
MAP kinase kinase kinase activity
calcium ion binding
protein binding
ATP binding
small GTPase binding
mitogen-activated protein kinase kinase binding
identical protein binding
protein heterodimerization activity