Hs07226274_cn

• Gene Symbol: NDUFS8
• Assay Reference Genome Location: Chr.11:68035647 on build GRCh38
• Cytoband: 11q13.2

Target Gene Details

• Entrez Gene ID: 4728
• Gene Name: NADH:ubiquinone oxidoreductase core subunit S8
• Gene Aliases: CI-23k, CI23KD, TYKY
• Location: Chr.11:68030617-68036647 on Build GRCh38
• Assay Gene Location: Within Intron 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NDUFS8	NM_002496.3			NP_002487.1
	XM_005274013.1			XP_005274070.1
	XM_005274014.2			XP_005274071.1
	XM_011545053.2			XP_011543355.1
	AK223114.1			BAD96834.1
	AK314546.1
	BC119753.1
	BC119754.2
	DB498707.1
	U65579.1			AAB51776.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2672926	Chr.11:68034757 - 68035899 on Build GRCh38	Deletion	NDUFS8
dgv1983n54	Chr.11:68022085 - 68053569 on Build GRCh38	Loss	ALDH3B1 CHKA NDUFS8 MIR4691 MIR6753 TCIRG1 MIR7113
nsv951026	Chr.11:67994030 - 68053133 on Build GRCh38	Deletion	ALDH3B1 CHKA NDUFS8 MIR4691 MIR6753 TCIRG1 UNC93B1 MIR7113
nsv468615	Chr.11:67997585 - 68049469 on Build GRCh38	Loss	ALDH3B1 NDUFS8 MIR4691 MIR6753 TCIRG1 UNC93B1 MIR7113
nsv469856	Chr.11:67871566 - 68092023 on Build GRCh38	Gain	ALDH3B1 CHKA NDUFS8 MIR4691 MIR6753 LOC105369360 TCIRG1 UNC93B1 MIR7113
dgv1981n54	Chr.11:67579272 - 68049469 on Build GRCh38	Gain	DOC2GP TBX10 ALDH3B2 NDUFS8 ACY3 GSTP1 FAM86C2P MIR4691 NDUFV1 LOC105369360 UNC93B1 ALDH3B1 MIR6753 NUDT8 TCIRG1 C11orf72 MIR7113
nsv8836	Chr.11:67985408 - 68052332 on Build GRCh38	Gain	ALDH3B1 NDUFS8 MIR4691 MIR6753 TCIRG1 UNC93B1 MIR7113
nsv825963	Chr.11:67996205 - 68429586 on Build GRCh38	Gain	ALDH3B1 CHKA NDUFS8 LRP5 C11orf24 MIR4691 MIR6753 TCIRG1 KMT5B UNC93B1 MIR7113
nsv555282	Chr.11:68031100 - 68050858 on Build GRCh38	Loss	NDUFS8 MIR4691 MIR6753 TCIRG1 MIR7113
esv2759835	Chr.11:67705434 - 68123822 on Build GRCh38	Gain+Loss	ALDH3B1 CHKA NDUFS8 FAM86C2P MIR4691 MIR6753 LOC105369360 TCIRG1 UNC93B1 MIR7113
nsv468606	Chr.11:67585218 - 68049469 on Build GRCh38	Gain	DOC2GP TBX10 ALDH3B2 NDUFS8 ACY3 GSTP1 FAM86C2P MIR4691 NDUFV1 LOC105369360 UNC93B1 ALDH3B1 MIR6753 NUDT8 TCIRG1 C11orf72 MIR7113
esv3626731	Chr.11:68034854 - 68035834 on Build GRCh38	Loss	NDUFS8
dgv1221n100	Chr.11:67979689 - 68054143 on Build GRCh38	Gain	ALDH3B1 CHKA NDUFS8 MIR4691 MIR6753 TCIRG1 UNC93B1 MIR7113

More Information

Additional Information:

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

Panther Classification:

Molecular Function -

oxidoreductase

Gene Ontology Categories:

Process(es)

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

Function(s)

NADH dehydrogenase activity
NADH dehydrogenase (ubiquinone) activity
metal ion binding
4 iron, 4 sulfur cluster binding