Hs00054891_cn

• Gene Symbol: NCAPH2
• Assay Reference Genome Location: Chr.22:50524426 on build GRCh38
• Cytoband: 22q13.33

Target Gene Details

• Entrez Gene ID: 29781
• Gene Name: non-SMC condensin II complex subunit H2
• Gene Aliases: CAPH2
• Location: Chr.22:50508216-50524780 on Build GRCh38
• Assay Gene Location: Within Exon 21

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NCAPH2	NM_001185011.1	20	2994	NP_001171940.1
	NM_152299.3	20	2991	NP_689512.2

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: Overlaps Intron 3 - Exon 4

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
	CR456569.1			CAG30455.1

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

More Information

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

Panther Classification:

Molecular Function -

oxidase

Gene Ontology Categories:

Process(es)

chromosome condensation
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)

protein binding
copper ion binding