Hs00397202_cn

• Gene Symbol: DFNA5
• Assay Reference Genome Location: Chr.7:24698633 on build GRCh38
• Cytoband: 7p15.3

Target Gene Details

• Entrez Gene ID: 1687
• Gene Name: DFNA5, deafness associated tumor suppressor
• Gene Aliases: ICERE-1
• Location: Chr.7:24698355-24758020 on Build GRCh38
• Assay Gene Location: Within Exon 11

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DFNA5	NM_001127453.1	10	1972	NP_001120925.1
	NM_001127454.1	9	1987	NP_001120926.1
	NM_004403.2	10	2217	NP_004394.1
	XM_017011802.1	9	1743	XP_016867291.1
	AF007790.2	9	1872	AAC39635.2
	AF073308.1	10	1941	AAC69324.1
	AF075171.1	2	1626	AAC69326.1
	AF131765.1	2	1628	AAD20039.1
	AJ270686.1	1	242
	AK094714.1	12	2545
	BC099911.1	10	1933
	BC125065.1
	BC125066.1
	BX647389.1	2	3904

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3612588	Chr.7:24698120 - 24699524 on Build GRCh38	Loss	DFNA5
nsv520276	Chr.7:24649588 - 25027423 on Build GRCh38	Gain	MPP6 OSBPL3 DFNA5
nsv527599	Chr.7:24591626 - 24708291 on Build GRCh38	Gain	MPP6 DFNA5

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

apoptotic process
sensory perception of sound
negative regulation of cell proliferation
inner ear receptor cell differentiation
positive regulation of intrinsic apoptotic signaling pathway