| Variant ID | 1117 |
|---|---|
| Entrez Gene ID | 340990 |
| Gene | OTOG (GeneCards) |
| Location | hg19 11:17655705-17655705
hg38 11:17634158-17634158 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000011.9:g.17655705 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 2453 |
| Amino acid changes in protein | P > S |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.5884 |
| CADD Raw score (version 1.3) | 0.430351 (Deleterious) |
| FATHMM raw prediction score | 0.10588 (Tolerated) |
| SIFT score | 0.424 (Tolerated) |
| LRT score | 0.925 |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 1.24 (Tolerated) |
| PROVEAN score | 0.55 (Tolerated) |
| MetaSVM score | -0.967 (Tolerated) |
| MetaLR score | 0.019 (Tolerated) |
| MCAP score | 0.014 (Tolerated) |
| FitCons score | 0.554 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 1.67 |
| PhyloP score based on multiple alignment of 100 vertebrates | 2.781 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.15 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 5.021 |
| Deleterious probability by iFish2 | 0.0401 (Neutral) |
| Deleterious probability by DeFine | 0.9003 (Deleterious) |
| Entrez Gene ID | 340990 (NCBI Gene) |
|---|---|
| Official Gene Symbol | OTOG (GeneCards) |
| Number of variants in OTOG in this database | 3 (view all the variants) |
| Full name | otogelin |
| Band | 11p15.1 |
| Other IDs | Vega: OTTHUMG00000149905 OMIM: 604487 HGNC: HGNC:8516 Ensembl: ENSG00000188162 |
| Other names | OTGN, MLEMP, DFNB18B |
| Summary | The protein encoded by this gene is a component of the acellular membranes of the inner ear. Disruption of the orthologous mouse gene shows that it plays a role in auditory and vestibular functions. It is involved in fibrillar network organization, the anchoring of otoconial membranes and cupulae to the neuroepithelia, and likely in sound stimulation resistance. Mutations in this gene cause autosomal recessive nonsyndromic deafness, type 18B. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014] |
| Individual ID | 27788131.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |