Hs03417252_cn

• Gene Symbol: OTOF
• Assay Reference Genome Location: Chr.2:26462965 on build GRCh38
• Cytoband: 2p23.3

Target Gene Details

• Entrez Gene ID: 9381
• Gene Name: otoferlin
• Gene Aliases: AUNB1, DFNB6, DFNB9, FER1L2, NSRD9
• Location: Chr.2:26457203-26558698 on Build GRCh38
• Assay Gene Location: Within Intron 41

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
OTOF	NM_001287489.1			NP_001274418.1
	NM_004802.3			NP_004793.2
	NM_194248.2			NP_919224.1
	NM_194322.2			NP_919303.1
	NM_194323.2			NP_919304.1
	XM_017005338.1			XP_016860827.1
	AF107403.1			AAD26117.1
	AF183185.1			AAG12991.1
	AF183186.1			AAG12992.1
	AF183187.1			AAG17468.1
	AK296272.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3583675	Chr.2:26440850 - 26577652 on Build GRCh38	Loss	DRC1 C2orf70 OTOF
nsv517800	Chr.2:26449146 - 26617624 on Build GRCh38	Loss	CIB4 DRC1 C2orf70 OTOF
nsv953759	Chr.2:26459433 - 26484332 on Build GRCh38	Deletion	OTOF
esv33316	Chr.2:25440017 - 26672800 on Build GRCh38	Loss	ASXL2 C2orf70 OTOF HADHA GAREM2 EPT1 KIF3C CIB4 RAB10 HADHB DRC1 DTNB ADGRF3

More Information

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

Panther Classification:

Molecular Function -

membrane trafficking regulatory protein

Gene Ontology Categories:

Process(es)

sensory perception of sound
synaptic vesicle exocytosis
membrane fusion
cochlea development

Function(s)

molecular_function
calcium ion binding
protein complex binding