| Variant ID | 15015 |
|---|---|
| Entrez Gene ID | 219525 |
| Gene | OR5AK4P (GeneCards) |
| Location | hg19 11:56833622-56833622
hg38 11:57066147-57066147 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000011.9:g.56833622 C>T (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 | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2889 |
| CADD Raw score (version 1.3) | 0.303559 (Deleterious) |
| FATHMM raw prediction score | 0.10269 (Tolerated) |
| Deleterious probability by DeFine | 0.0839 (Neutral) |
| Entrez Gene ID | 219525 (NCBI Gene) |
|---|---|
| Official Gene Symbol | OR5AK4P (GeneCards) |
| Number of variants in OR5AK4P in this database | 4 (view all the variants) |
| Full name | olfactory receptor family 5 subfamily AK member 4 pseudogene |
| Band | 11q12.1 |
| Other IDs | HGNC: HGNC:15253 Ensembl: ENSG00000283307 |
| Other names | PJCG3 |
| 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 | 29217584.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |