Hs00653473_cn

• Gene Symbol: NDUFV3
• Assay Reference Genome Location: Chr.21:42904144 on build GRCh38
• Cytoband: 21q22.3

Target Gene Details

• Entrez Gene ID: 4731
• Gene Name: NADH:ubiquinone oxidoreductase subunit V3
• Gene Aliases: CI-10k, CI-9KD
• Location: Chr.21:42893268-42911396 on Build GRCh38
• Assay Gene Location: Within Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NDUFV3	NM_001001503.1			NP_001001503.1
	NM_021075.3	3	1198	NP_066553.3
	XM_011529586.2	3	1195	XP_011527888.1
	XM_017028359.1			XP_016883848.1
	AK056041.1	5	1655	BAB71080.1
	AK289586.1
	AK308228.1	3	1155
	AY173949.1			AAO49719.1
	BC021217.2	3	1185	AAH21217.2
	BC033766.1			AAH33766.1
	BC054016.1			AAH54016.1
	BU629860.1	2	387
	CR542174.1			CAG46971.1
	CR542190.1			CAG46987.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3568210	Chr.21:42868799 - 42962716 on Build GRCh38	Loss	MIR5692B NDUFV3 ERVH48-1 WDR4
nsv587657	Chr.21:42752699 - 43087910 on Build GRCh38	Gain	PDE9A MIR5692B CBS NDUFV3 ERVH48-1 WDR4 PKNOX1 LOC101928311
esv3584478	Chr.21:42827914 - 42993457 on Build GRCh38	Gain	MIR5692B NDUFV3 ERVH48-1 WDR4 PKNOX1
esv2666871	Chr.21:42615442 - 43467915 on Build GRCh38	Deletion	HSF2BP CRYAA NDUFV3 LOC101928284 ERVH48-1 WDR4 PKNOX1 TCONS_00029157 LOC101928311 LINC00313 LINC00319 PDE9A MIR5692B SIK1 LOC400870 CBS LINC00322 U2AF1 LOC101928255 FRGCA
nsv834105	Chr.21:42873719 - 43030219 on Build GRCh38	Loss	MIR5692B NDUFV3 ERVH48-1 WDR4 PKNOX1

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

oxidoreductase, metabolite interconversion enzyme

Gene Ontology Categories:

Process(es)

mitochondrial electron transport, NADH to ubiquinone
mitochondrial respiratory chain complex I assembly

Function(s)

NADH dehydrogenase (ubiquinone) activity
poly(A) RNA binding