Hs05232637_cn

• Gene Symbol: CCS
• Assay Reference Genome Location: Chr.11:66594011 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 Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CCS	NM_005125.1			NP_005116.1
	AF002210.1			AAC51764.1
	AY113179.1			AAM50090.1
	BC105016.1			AAI05017.1
	BC112055.1			AAI12056.1
	CR541928.1			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	CCDC87 RBM4 BBS1 CCS PELI3 RBM14-RBM4 CTSF SPTBN2 ACTN3 RBM4B DPP3 LOC101928069 ZDHHC24 RBM14

More Information

• Set Membership: Intragenic, Intronic, Non-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