| Variant ID | 5668 |
|---|---|
| Entrez Gene ID | 131149 |
| Gene | OTOL1 (GeneCards) |
| Location | hg19 3:161940936-161940936
hg38 3:162223148-162223148 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000003.11:g.161940936 G>A (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.4027 |
| CADD Raw score (version 1.3) | -0.155316 (Deleterious) |
| FATHMM raw prediction score | 0.05327 (Tolerated) |
| Deleterious probability by DeFine | 0.1083 (Neutral) |
| Entrez Gene ID | 131149 (NCBI Gene) |
|---|---|
| Official Gene Symbol | OTOL1 (GeneCards) |
| Number of variants in OTOL1 in this database | 33 (view all the variants) |
| Full name | otolin 1 |
| Band | 3q26.1 |
| Other IDs | Vega: OTTHUMG00000159074 HGNC: HGNC:34071 Ensembl: ENSG00000182447 |
| Other names | C1QTNF15, C1QTNF16 |
| Summary | This gene encodes a secreted glycoprotein with a C-terminal complement Cq1-like globular domain that belongs to the C1q/tumor necrosis factor-related protein (CTRP) family. The encoded protein is expressed in the inner ear and forms a multimeric complex called the otoconia, together with cerebellin-1 and otoconin-90, as part of the otoconial membrane. It contains extensive posttranslational modifications including hydroxylated prolines and glycosylated lysines. Naturally occurring mutations in this gene are associated with abnormal otoconia formation and balance deficits resulting from vestibular dysfunction. [provided by RefSeq, Jul 2017] |
| Individual ID | 29217584.16 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |