| Variant ID | 1488 |
|---|---|
| Entrez Gene ID | 390144 |
| Gene | OR5D16 (GeneCards) |
| Location | hg19 11:55606850-55606850
hg38 11:55839374-55839374 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | Hiseq |
| Mutation(HGVS format) | NC_000011.9:g.55606850_55606850 del (Genome Assembly: GRCh37) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NM_001005496.1 |
| mRNA length | 987 |
| Reference length | 135006516 |
| Deleterious probability by DeFine | 0.8208 (Deleterious) |
|---|
| Entrez Gene ID | 390144 (NCBI Gene) |
|---|---|
| Official Gene Symbol | OR5D16 (GeneCards) |
| Number of variants in OR5D16 in this database | 3 (view all the variants) |
| Full name | olfactory receptor family 5 subfamily D member 16 |
| Band | 11q12.1 |
| Other IDs | Vega: OTTHUMG00000154233 HGNC: HGNC:15283 Ensembl: ENSG00000205029 |
| Other names | OR11-154 |
| Summary | Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] |
| Individual ID | 28235832.04 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28235832 |
| Whose mosaic mutation | Male Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28235832 |
|---|---|
| Title | One thousand somatic SNVs per skin fibroblast cell set baseline of mosaic mutational load with patterns that suggest proliferative origin. |
| Journal | Genome Research |
| Publication date | 2017.04 |
| Disease | Autism Spectrum Disorders |
| Number of cases | Male cases: 3; cases of unknown sex: 1; |