Hs02598007_cn

• Gene Symbol: NEFH
• Assay Reference Genome Location: Chr.22:29483396 on build GRCh38
• Cytoband: 22q12.2

Target Gene Details

• Entrez Gene ID: 4744
• Gene Name: neurofilament heavy polypeptide
• Gene Aliases: CMT2CC, NFH
• Location: Chr.22:29480192-29491290 on Build GRCh38
• Assay Gene Location: Overlaps Intron 1 - Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NEFH	NM_021076.3			NP_066554.2
	XM_011530200.2			XP_011528502.1
	AB020652.2
	AF203032.1			AAF13722.1
	AK302660.1
	BC073969.1			AAH73969.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3647536	Chr.22:29477608 - 29543952 on Build GRCh38	Gain	NEFH THOC5
nsv1062039	Chr.22:29458872 - 29493212 on Build GRCh38	Gain	NEFH
esv3893473	Chr.22:29474962 - 29528836 on Build GRCh38	Loss	NEFH THOC5
nsv438344	Chr.22:29460090 - 29490054 on Build GRCh38	Loss	NEFH

More Information

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

Gene Ontology Categories:

Process(es)

microtubule cytoskeleton organization
ovarian follicle atresia
axonogenesis
spinal cord development
hippocampus development
cerebral cortex development
cell projection assembly
axon regeneration
neurofilament bundle assembly
cellular response to oxidative stress
response to cocaine
peripheral nervous system neuron axonogenesis
axon development
cellular response to estradiol stimulus
regulation of organelle transport along microtubule
response to sodium arsenite
response to acrylamide

Function(s)

structural molecule activity
structural constituent of cytoskeleton
microtubule binding
toxic substance binding
kinesin binding
protein kinase binding
protein binding, bridging
dynein binding
protein heterodimerization activity