Hs03040304_cn

• Gene Symbol: COX4I2
• Assay Reference Genome Location: Chr.20:31640107 on build GRCh38
• Cytoband: 20q11.21

Target Gene Details

• Entrez Gene ID: 84701
• Gene Name: cytochrome c oxidase subunit 4I2
• Gene Aliases: COX4, COX4-2, COX4B, COX4L2, COXIV-2, dJ857M17.2
• Location: Chr.20:31637856-31645009 on Build GRCh38
• Assay Gene Location: Overlaps Exon 4 - Intron 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
COX4I2	NM_032609.2			NP_115998.2
	XM_005260579.4			XP_005260636.1
	XM_005260580.4			XP_005260637.1
	XM_005260581.3			XP_005260638.1
	AF257180.1			AAK49333.1
	BC057779.1			AAH57779.1
	HE647859.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv470546	Chr.20:31245806 - 31647499 on Build GRCh38	Gain	DEFB116 DEFB123 DEFB124 DEFB117 ID1 REM1 DEFB115 COX4I2 LOC107985416 HM13 DEFB122 DEFB121 MIR3193 DEFB119 LINC00028 HM13-AS1 DEFB118
esv2763228	Chr.20:31247246 - 31651719 on Build GRCh38	Gain	DEFB116 DEFB123 DEFB124 DEFB117 ID1 REM1 DEFB115 COX4I2 LOC107985416 HM13 DEFB122 DEFB121 MIR3193 DEFB119 LINC00028 HM13-AS1 DEFB118
dgv4300n100	Chr.20:31247234 - 32033468 on Build GRCh38	Gain	FOXS1 BCL2L1 DEFB117 REM1 DEFB115 COX4I2 TPX2 LOC107985416 TTLL9 HM13 DEFB122 DEFB121 MIR3193 MYLK2 DEFB119 DEFB118 DEFB116 DEFB123 ABALON DEFB124 CCM2L ID1 XKR7 PDRG1 DUSP15 LINC00028 HM13-AS1
nsv458961	Chr.20:31305698 - 31688103 on Build GRCh38	Gain	DEFB116 DEFB123 DEFB124 BCL2L1 DEFB117 ID1 REM1 COX4I2 LOC107985416 HM13 DEFB122 DEFB121 MIR3193 DEFB119 LINC00028 HM13-AS1 DEFB118

More Information

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

Panther Classification:

Molecular Function -

oxidase

Gene Ontology Categories:

Process(es)

generation of precursor metabolites and energy
mitochondrial electron transport, cytochrome c to oxygen
cellular respiration
oxidation-reduction process
hydrogen ion transmembrane transport

Function(s)

cytochrome-c oxidase activity