Hs02311560_cn

• Gene Symbol: DBN1
• Assay Reference Genome Location: Chr.5:177456649 on build GRCh38
• Cytoband: 5q35.3

Target Gene Details

• Entrez Gene ID: 1627
• Gene Name: drebrin 1
• Gene Aliases: D0S117E
• Location: Chr.5:177456612-177480368 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 18

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DBN1	NM_004395.3			NP_004386.2
	NM_080881.2			NP_543157.1
	XM_005265827.3			XP_005265884.1
	XM_006714826.2			XP_006714889.1
	XM_011534446.2			XP_011532748.1
	XM_011534447.2			XP_011532749.1
	XM_017009139.1			XP_016864628.1
	XM_017009140.1			XP_016864629.1
	AI683844.1
	AW950551.1

Target Gene Details

• Entrez Gene ID: 80758
• Gene Name: proline rich 7 (synaptic)
• Gene Aliases: -
• Location: Chr.5:177445936-177456701 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PRR7	XM_011534662.1			XP_011532964.1
	XM_011534663.2			XP_011532965.1
	XM_017009896.1			XP_016865385.1
	XM_017009897.1			XP_016865386.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv471057	Chr.5:177310308 - 177469411 on Build GRCh38	Loss	MXD3 PRR7 PFN3 LMAN2 GRK6 DBN1 SLC34A1 PRR7-AS1 RGS14 F12
nsv515805	Chr.5:177432847 - 177469411 on Build GRCh38	Loss	PRR7 GRK6 DBN1 PRR7-AS1
dgv10184n54	Chr.5:177357511 - 177469411 on Build GRCh38	Loss	PRR7 PFN3 GRK6 DBN1 SLC34A1 PRR7-AS1 RGS14 F12
nsv1161313	Chr.5:177356552 - 177463415 on Build GRCh38	Duplication	PRR7 PFN3 GRK6 DBN1 SLC34A1 PRR7-AS1 RGS14 F12
nsv1161311	Chr.5:177305104 - 177546474 on Build GRCh38	Duplication	MXD3 PRR7 DOK3 LMAN2 SLC34A1 RGS14 PRELID1 PFN3 FAM193B GRK6 PDLIM7 DDX41 DBN1 PRR7-AS1 F12

More Information

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

Panther Classification:

Molecular Function -

actin or actin-binding cytoskeletal protein, cytoskeletal protein, non-motor actin binding protein

Gene Ontology Categories:

Process(es)

actin filament organization
cell communication by chemical coupling
cell communication by electrical coupling
maintenance of protein location in cell
regulation of neuronal synaptic plasticity
regulation of dendrite development
neural precursor cell proliferation
cell-cell adhesion

Function(s)

actin binding
protein binding
profilin binding
cadherin binding involved in cell-cell adhesion