Hs03643492_cn

• Gene Symbol: NDUFA4
• Assay Reference Genome Location: Chr.7:10935260 on build GRCh38
• Cytoband: 7p21.3

Target Gene Details

• Entrez Gene ID: 4697
• Gene Name: NDUFA4, mitochondrial complex associated
• Gene Aliases: CI-9k, CI-MLRQ, MLRQ
• Location: Chr.7:10931953-10940186 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NDUFA4	NM_002489.3			NP_002480.1
	AK024837.1
	AK130950.1
	BC101794.1			AAI01795.1
	BC101796.1			AAI01797.1
	BC105295.1			AAI05296.1
	CR407618.1			CAG28546.1
	CR541716.1			CAG46517.1
	U94586.1			AAB52726.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1161498	Chr.7:10899112 - 10968568 on Build GRCh38	Deletion	NDUFA4
esv3891051	Chr.7:10912986 - 11111729 on Build GRCh38	Loss	PHF14 NDUFA4
esv3891050	Chr.7:10836267 - 11491247 on Build GRCh38	Gain	PHF14 THSD7A NDUFA4
nsv1029882	Chr.7:10832535 - 11331518 on Build GRCh38	Loss	PHF14 NDUFA4
nsv1019888	Chr.7:10673231 - 11457158 on Build GRCh38	Gain	PHF14 THSD7A LOC100131472 NDUFA4
esv2752140	Chr.7:10777433 - 10990121 on Build GRCh38	Gain	PHF14 NDUFA4
nsv606187	Chr.7:10239859 - 11757275 on Build GRCh38	Gain	PHF14 THSD7A LOC100131472 NDUFA4
nsv464364	Chr.7:10865125 - 10949239 on Build GRCh38	Loss	NDUFA4

More Information

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

Panther Classification:

Molecular Function -

oxidoreductase

Gene Ontology Categories:

Process(es)

mitochondrial electron transport, NADH to ubiquinone
mitochondrial electron transport, cytochrome c to oxygen
hydrogen ion transmembrane transport

Function(s)

cytochrome-c oxidase activity
protein binding
NADH dehydrogenase (ubiquinone) activity
protein complex binding