OTOF
  • 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
OTOF (HGNC:8515) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
otoferlin
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
DFNB9
Alias symbols
FER1L2, DFNB6
%HI
29.35(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.02(Read more about gnomAD LOEUF score)
Cytoband
2p23.3
Genomic Coordinates
GRCh37/hg19: chr2:26680071-26781624 NCBI Ensembl UCSC
GRCh38/hg38: chr2:26457203-26558756 NCBI Ensembl UCSC
MANE Select Transcript
NM_194248.3 ENST00000272371.7 (Read more about MANE Select)
MANE Plus Clinical Transcript(s)
NM_194323.3 ENST00000339598.8 (Read more about MANE Plus Clinical)
Function
Key calcium ion sensor involved in the Ca(2+)-triggered synaptic vesicle-plasma membrane fusion and in the control of neurotransmitter release at these output synapses. Interacts in a calcium-dependent manner to the presynaptic SNARE proteins at ribbon synapses of cochlear inner hair cells (IHCs) to trigger exocytosis of neurotransmitter. Also essential to synaptic exocytosis in immature outer hair cells (OHCs). May also play a role within the recycling of endosomes (By similarity). {ECO:0000250... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-29855
ClinGen Curation ID:
CCID:007602
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
Not Yet Evaluated
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • autosomal recessive nonsyndromic hearing loss 9 Monarch
HI Evidence Comments:
Variation in OTOF has been reported in individuals with ARNSHL that is typically prelingual or congenital deafness; furthermore, the overall evidence that OTOF, when altered, causes ARNSHL has been expert reviewed by the ClinGen Hearing Loss Working Group and classified as DEFINITIVE.

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000002.11) (NC_000002.12)