Hs03053269_cn

• Gene Symbol: EVI2A
• Assay Reference Genome Location: Chr.17:31318219 on build GRCh38
• Cytoband: 17q11.2

Target Gene Details

• Entrez Gene ID: 2123
• Gene Name: ecotropic viral integration site 2A
• Gene Aliases: EVDA, EVI-2A, EVI2
• Location: Chr.17:31316410-31321749 on Build GRCh38
• Assay Gene Location: Within Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EVI2A	NM_001003927.2	3	1201	NP_001003927.1
	NM_014210.3	2	1060	NP_055025.2
	AK295311.1	3	1136
	BC035572.1	2	948	AAH35572.2

Target Gene Details

• Entrez Gene ID: 4763
• Gene Name: neurofibromin 1
• Gene Aliases: NFNS, VRNF, WSS
• Location: Chr.17:31094927-31377677 on Build GRCh38
• Assay Gene Location: Within Intron 38

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NF1	NM_000267.3			NP_000258.1
	NM_001042492.2			NP_001035957.1
	XM_005257983.2			XP_005258040.1
	XM_005257984.2			XP_005258041.1
	XM_006721922.2			XP_006721985.1
	XM_006721924.2			XP_006721987.1
	XM_006721925.2			XP_006721988.1
	XM_006721926.3			XP_006721989.1
	XM_011524852.2			XP_011523154.1
	XM_011524857.2			XP_011523159.1
	XM_017024689.1			XP_016880178.1
	AB209336.1			BAD92573.1
	M38106.1			AAA74897.1
	M38107.1			AAB59558.1
	M82814.1			AAA59924.1
	M89914.1			AAA59925.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv5520n54	Chr.17:31310290 - 31322205 on Build GRCh38	Loss	NF1 EVI2A EVI2B
nsv574671	Chr.17:31309552 - 31322205 on Build GRCh38	Gain	NF1 EVI2A EVI2B
nsv833413	Chr.17:31225070 - 31398610 on Build GRCh38	Gain+Loss	NF1 OMG EVI2A RAB11FIP4 EVI2B
nsv1061870	Chr.17:31274278 - 31322138 on Build GRCh38	Loss	NF1 OMG EVI2A EVI2B
nsv953876	Chr.17:31308383 - 31322482 on Build GRCh38	Duplication	NF1 EVI2A EVI2B

More Information

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

Panther Classification:

Molecular Function -

transmembrane signal receptor, GTPase-activating protein

Gene Ontology Categories:

Process(es)

signal transduction
MAPK cascade
osteoblast differentiation
metanephros development
response to hypoxia
liver development
negative regulation of endothelial cell proliferation
positive regulation of endothelial cell proliferation
regulation of cell-matrix adhesion
negative regulation of cell-matrix adhesion
negative regulation of protein kinase activity
cell communication
Ras protein signal transduction
negative regulation of neuroblast proliferation
brain development
peripheral nervous system development
heart development
skeletal muscle tissue development
visual learning
extrinsic apoptotic signaling pathway via death domain receptors
regulation of gene expression
Schwann cell development
phosphatidylinositol 3-kinase signaling
negative regulation of angiogenesis
spinal cord development
amygdala development
forebrain astrocyte development
neural tube development
cerebral cortex development
myelination in peripheral nervous system
actin cytoskeleton organization
extracellular matrix organization
collagen fibril organization
adrenal gland development
negative regulation of cell migration
regulation of synaptic transmission, GABAergic
cellular response to heat
negative regulation of Rac protein signal transduction
wound healing
negative regulation of transcription factor import into nucleus
positive regulation of apoptotic process
regulation of GTPase activity
negative regulation of MAP kinase activity
negative regulation of MAPK cascade
pigmentation
positive regulation of neuron apoptotic process
regulation of blood vessel endothelial cell migration
positive regulation of GTPase activity
regulation of bone resorption
negative regulation of osteoclast differentiation
regulation of glial cell differentiation
positive regulation of adenylate cyclase activity
regulation of angiogenesis
negative regulation of Ras protein signal transduction
negative regulation of neurotransmitter secretion
negative regulation of fibroblast proliferation
regulation of long-term neuronal synaptic plasticity
sympathetic nervous system development
camera-type eye morphogenesis
negative regulation of astrocyte differentiation
negative regulation of oligodendrocyte differentiation
smooth muscle tissue development
artery morphogenesis
forebrain morphogenesis
cognition
gamma-aminobutyric acid secretion, neurotransmission
glutamate secretion, neurotransmission
observational learning
regulation of long-term synaptic potentiation
positive regulation of extrinsic apoptotic signaling pathway via death domain receptors
positive regulation of extrinsic apoptotic signaling pathway in absence of ligand

Function(s)

transmembrane signaling receptor activity
GTPase activator activity
protein binding
phosphatidylethanolamine binding
phosphatidylcholine binding