Hs01104443_cn

• Gene Symbol: MTERF3
• Assay Reference Genome Location: Chr.8:96251053 on build GRCh38
• Cytoband: 8q22.1

Target Gene Details

• Entrez Gene ID: 51001
• Gene Name: mitochondrial transcription termination factor 3
• Gene Aliases: CGI-12, MTERFD1
• Location: Chr.8:96239398-96261613 on Build GRCh38
• Assay Gene Location: Within Exon 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MTERF3	NM_001286643.1	4	653	NP_001273572.1
	NM_015942.4	4	653	NP_057026.3
	XM_006716570.3	4	611	XP_006716633.1
	XM_011517054.2	3	320	XP_011515356.1
	AF132946.1	3	375	AAD27721.1
	AK001801.1	2	357
	AK309002.1	4	650
	BC012995.2	4	608	AAH12995.2

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv24857	Chr.8:96250742 - 96251196 on Build GRCh38	Loss	MTERF3
nsv1020494	Chr.8:96188447 - 96286981 on Build GRCh38	Gain	PTDSS1 UQCRB MTERF3

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

transcription, DNA-templated
macroautophagy
negative regulation of transcription, DNA-templated

Function(s)

double-stranded DNA binding
protein binding
transcription regulatory region DNA binding