Hs01911846_cn

• Gene Symbol: CABP2
• Assay Reference Genome Location: Chr.11:67519856 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 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CABP2	NM_001318496.1	6	680	NP_001305425.1
	NM_016366.2	6	676	NP_057450.2
	AB593136.1	6	866
	AF169154.1	6	644	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 NUDT8 DOC2GP CDK2AP2 AIP ACY3 NDUFV1 TBX10 C11orf72 MIR6752 CABP2 FAM86C2P TMEM134 ALDH3B2 PITPNM1
dgv1977n54	Chr.11:67397024 - 67521123 on Build GRCh38	Loss	GPR152 CDK2AP2 AIP RAD9A PPP1CA RPS6KB2 CABP4 TBC1D10C CARNS1 MIR6752 CABP2 CORO1B TMEM134 PITPNM1 PTPRCAP
dgv52n111	Chr.11:67362651 - 67521123 on Build GRCh38	Deletion	GPR152 CDK2AP2 AIP RAD9A CLCF1 PPP1CA LOC100130987 RPS6KB2 CABP4 TBC1D10C CARNS1 MIR6752 CABP2 CORO1B TMEM134 PITPNM1 PTPRCAP
nsv521723	Chr.11:67408221 - 67543787 on Build GRCh38	Loss	GPR152 CDK2AP2 AIP RPS6KB2 CABP4 TBC1D10C CARNS1 MIR6752 CABP2 CORO1B TMEM134 PITPNM1 PTPRCAP
nsv527056	Chr.11:67439955 - 67526837 on Build GRCh38	Loss	CABP4 GPR152 CDK2AP2 AIP MIR6752 CABP2 CORO1B TMEM134 PITPNM1

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

signal transduction

Function(s)

calcium ion binding