Hs04092058_cn

• Gene Symbol: SCO2
• Assay Reference Genome Location: Chr.22:50524967 on build GRCh38
• Cytoband: 22q13.33

Target Gene Details

• Entrez Gene ID: 9997
• Gene Name: SCO2 cytochrome c oxidase assembly protein
• Gene Aliases: CEMCOX1, MYP6, SCO1L
• Location: Chr.22:50523568-50526439 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SCO2	NM_001169109.1			NP_001162580.1
	NM_001169110.1			NP_001162581.1
	NM_001169111.1			NP_001162582.1
	NM_005138.2			NP_005129.2
	AL021683.1			CAA16671.1
	BC102024.1			AAI02025.1
	BC102025.1			AAI02026.1
	BG392981.1
	BM787182.1
	BQ878572.1
	CN409692.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2758852	Chr.22:50491090 - 50578979 on Build GRCh38	Loss	CHKB-CPT1B SYCE3 LMF2 SCO2 KLHDC7B CHKB NCAPH2 CPT1B ODF3B TYMP
nsv1160782	Chr.22:50463961 - 50571524 on Build GRCh38	Deletion	ADM2 CHKB-CPT1B SYCE3 SBF1 MIOX LMF2 SCO2 KLHDC7B NCAPH2 CPT1B ODF3B TYMP
nsv1057656	Chr.22:50478783 - 50595520 on Build GRCh38	Gain	ADM2 CHKB-CPT1B CHKB-AS1 LMF2 CHKB NCAPH2 CPT1B ODF3B SYCE3 MIOX SCO2 KLHDC7B TYMP
nsv834238	Chr.22:50402690 - 50556965 on Build GRCh38	Loss	LOC107985556 ADM2 PPP6R2 SYCE3 SBF1 MIOX LMF2 SCO2 KLHDC7B NCAPH2 ODF3B TYMP
nsv471224	Chr.22:50435189 - 50580482 on Build GRCh38	Loss	ADM2 PPP6R2 CHKB-CPT1B LMF2 CHKB NCAPH2 CPT1B ODF3B SYCE3 SBF1 MIOX SCO2 KLHDC7B TYMP
nsv829340	Chr.22:50505720 - 50603696 on Build GRCh38	Gain	CHKB-CPT1B SYCE3 CHKB-AS1 LMF2 SCO2 KLHDC7B MAPK8IP2 CHKB NCAPH2 CPT1B ODF3B TYMP
nsv955201	Chr.22:50421672 - 50537371 on Build GRCh38	Deletion	LOC107985556 ADM2 PPP6R2 SBF1 MIOX LMF2 SCO2 NCAPH2 ODF3B TYMP
nsv834239	Chr.22:50485317 - 50630215 on Build GRCh38	Loss	ADM2 CHKB-CPT1B CHKB-AS1 LMF2 MAPK8IP2 CHKB NCAPH2 CPT1B ODF3B ARSA SYCE3 MIOX SCO2 KLHDC7B TYMP
nsv589222	Chr.22:50491152 - 50589773 on Build GRCh38	Gain	CHKB-CPT1B SYCE3 CHKB-AS1 LMF2 SCO2 KLHDC7B CHKB NCAPH2 CPT1B ODF3B TYMP

More Information

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

Panther Classification:

Molecular Function -

oxidase

Gene Ontology Categories:

Process(es)

eye development
in utero embryonic development
muscle system process
copper ion transport
cellular copper ion homeostasis
respiratory chain complex IV assembly
response to activity
respiratory electron transport chain
cell redox homeostasis
oxidation-reduction process

Function(s)

copper ion binding
protein binding