Hs02165692_cn

• Gene Symbol: CCS
• Assay Reference Genome Location: Chr.11:66599180 on build GRCh38
• Cytoband: 11q13.2

Target Gene Details

• Entrez Gene ID: 9973
• Gene Name: copper chaperone for superoxide dismutase
• Gene Aliases: -
• Location: Chr.11:66593162-66606019 on Build GRCh38
• Assay Gene Location: Within Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CCS	NM_005125.1	3	220	NP_005116.1
	AF002210.1	3	220	AAC51764.1
	AY113179.1	3	240	AAM50090.1
	BC105016.1	3	216	AAI05017.1
	BC112055.1	3	216	AAI12056.1
	CR541928.1	3	177	CAG46726.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv522277	Chr.11:66466552 - 66726354 on Build GRCh38	Loss	CCS RBM4B LOC101928069 PELI3 RBM4 RBM14-RBM4 RBM14 CCDC87 ZDHHC24 SPTBN2 DPP3 BBS1 CTSF ACTN3
nsv363	Chr.11:66597906 - 66629110 on Build GRCh38	Insertion	CCS RBM14-RBM4 RBM14

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

oxidoreductase, metabolite interconversion enzyme

Gene Ontology Categories:

Process(es)

response to reactive oxygen species
superoxide metabolic process
intracellular copper ion transport
removal of superoxide radicals
positive regulation of oxidoreductase activity
oxidation-reduction process
cell-cell adhesion

Function(s)

superoxide dismutase activity
copper ion binding
protein binding
zinc ion binding
protein disulfide oxidoreductase activity
superoxide dismutase copper chaperone activity
cadherin binding involved in cell-cell adhesion