Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 9381
MIM: 603681
HGNC: 8515
Ensembl: ENSG00000115155
Variants:
dbSNP: 9381
ClinVar: 9381
TCGA: ENSG00000115155
COSMIC: OTOF
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38811176 | 2024 | [The updates of the ACMG variant interpretation guidelines affect the pathogenicity determination of OTOF gene variations in patients with auditory neuropathy]. | 0 |
| 38811176 | 2024 | [The updates of the ACMG variant interpretation guidelines affect the pathogenicity determination of OTOF gene variations in patients with auditory neuropathy]. | 0 |
| 36383253 | 2023 | Hearing of Otof-deficient mice restored by trans-splicing of N- and C-terminal otoferlin. | 20 |
| 36988134 | 2023 | Intronic OTOF mutation causes an atypical splicing defect resulting in auditory neuropathy spectrum disorder. | 0 |
| 37189200 | 2023 | Loss-of-function mutations in MYO15A and OTOF cause non-syndromic hearing loss in two Yemeni families. | 2 |
| 38139069 | 2023 | Predicting the Impact of OTOF Gene Missense Variants on Auditory Neuropathy Spectrum Disorder. | 0 |
| 36383253 | 2023 | Hearing of Otof-deficient mice restored by trans-splicing of N- and C-terminal otoferlin. | 20 |
| 36988134 | 2023 | Intronic OTOF mutation causes an atypical splicing defect resulting in auditory neuropathy spectrum disorder. | 0 |
| 37189200 | 2023 | Loss-of-function mutations in MYO15A and OTOF cause non-syndromic hearing loss in two Yemeni families. | 2 |
| 38139069 | 2023 | Predicting the Impact of OTOF Gene Missense Variants on Auditory Neuropathy Spectrum Disorder. | 0 |
| 34424407 | 2022 | The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter study. | 9 |
| 34536124 | 2022 | Detailed clinical features and genotype-phenotype correlation in an OTOF-related hearing loss cohort in Japan. | 4 |
| 35862790 | 2022 | Membrane Protein OTOF Is a Type I Interferon-Induced Entry Inhibitor of HIV-1 in Macrophages. | 4 |
| 34424407 | 2022 | The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter study. | 9 |
| 34536124 | 2022 | Detailed clinical features and genotype-phenotype correlation in an OTOF-related hearing loss cohort in Japan. | 4 |
Citation
Dessen P
OTOF (otoferlin)
Atlas Genet Cytogenet Oncol Haematol. 2016-10-01
Online version: http://atlasgeneticsoncology.org/gene/56122/otof-(otoferlin)
