Hs00701557_cn

• Gene Symbol: CABP2
• Assay Reference Genome Location: Chr.11:67520129 on build GRCh38
• Cytoband: 11q13.2

Target Gene Details

• Entrez Gene ID: 51475
• Gene Name: calcium binding protein 2
• Gene Aliases: DFNB93
• Location: Chr.11:67518947-67523428 on Build GRCh38
• Assay Gene Location: Overlaps Intron 4 - Exon 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CABP2	NM_001318496.1			NP_001305425.1
	NM_016366.2			NP_057450.2
	AB593136.1
	AF169154.1			AAF25788.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2422195	Chr.11:67466851 - 67859430 on Build GRCh38	Duplication	GSTP1 ACY3 DOC2GP C11orf72 ALDH3B2 NDUFV1 AIP MIR6752 CABP2 TMEM134 FAM86C2P NUDT8 PITPNM1 TBX10 CDK2AP2
dgv1977n54	Chr.11:67397024 - 67521123 on Build GRCh38	Loss	CARNS1 RPS6KB2 RAD9A CORO1B TBC1D10C CABP4 PPP1CA AIP MIR6752 CABP2 TMEM134 GPR152 PITPNM1 CDK2AP2 PTPRCAP
dgv52n111	Chr.11:67362651 - 67521123 on Build GRCh38	Deletion	CARNS1 RPS6KB2 CLCF1 RAD9A CORO1B TBC1D10C LOC100130987 CABP4 PPP1CA AIP MIR6752 CABP2 TMEM134 GPR152 PITPNM1 CDK2AP2 PTPRCAP
nsv521723	Chr.11:67408221 - 67543787 on Build GRCh38	Loss	CARNS1 RPS6KB2 CORO1B TBC1D10C CABP4 AIP MIR6752 CABP2 TMEM134 GPR152 PITPNM1 CDK2AP2 PTPRCAP
nsv527056	Chr.11:67439955 - 67526837 on Build GRCh38	Loss	AIP MIR6752 CABP2 TMEM134 GPR152 PITPNM1 CORO1B CDK2AP2 CABP4

More Information

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

Gene Ontology Categories:

Process(es)

signal transduction

Function(s)

calcium ion binding