Hs01470572_cn

• Gene Symbol: CABP2
• Assay Reference Genome Location: Chr.11:67519073 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: Within Exon 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CABP2	NM_001318496.1	7	835	NP_001305425.1
	NM_016366.2	7	831	NP_057450.2
	AB593136.1	7	1021
	AF169154.1	7	799	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	TMEM134 NDUFV1 NUDT8 CDK2AP2 C11orf72 AIP GSTP1 MIR6752 PITPNM1 TBX10 ALDH3B2 DOC2GP ACY3 CABP2 FAM86C2P
dgv1977n54	Chr.11:67397024 - 67521123 on Build GRCh38	Loss	TMEM134 CDK2AP2 PPP1CA AIP RAD9A MIR6752 PTPRCAP PITPNM1 RPS6KB2 CARNS1 CABP4 GPR152 TBC1D10C CABP2 CORO1B
dgv52n111	Chr.11:67362651 - 67521123 on Build GRCh38	Deletion	TMEM134 CLCF1 LOC100130987 CDK2AP2 PPP1CA AIP RAD9A MIR6752 PTPRCAP PITPNM1 RPS6KB2 CARNS1 CABP4 GPR152 TBC1D10C CABP2 CORO1B
nsv521723	Chr.11:67408221 - 67543787 on Build GRCh38	Loss	TMEM134 CDK2AP2 AIP MIR6752 PTPRCAP PITPNM1 RPS6KB2 CARNS1 CABP4 GPR152 TBC1D10C CABP2 CORO1B
nsv527056	Chr.11:67439955 - 67526837 on Build GRCh38	Loss	MIR6752 TMEM134 PITPNM1 CDK2AP2 CABP4 GPR152 CABP2 AIP CORO1B

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

signal transduction

Function(s)

calcium ion binding