| Variant ID | 11652 |
|---|---|
| Entrez Gene ID | 4986 |
| Gene | OPRK1 (GeneCards) |
| Location | hg19 8:54522539-54522539
hg38 8:53609979-53609979 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000008.10:g.54522539 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 | 146364022 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2956 |
| CADD Raw score (version 1.3) | -0.082915 (Deleterious) |
| FATHMM raw prediction score | 0.09673 (Tolerated) |
| Deleterious probability by DeFine | 0.1437 (Neutral) |
| Entrez Gene ID | 4986 (NCBI Gene) |
|---|---|
| Official Gene Symbol | OPRK1 (GeneCards) |
| Number of variants in OPRK1 in this database | 7 (view all the variants) |
| Full name | opioid receptor kappa 1 |
| Band | 8q11.23 |
| Other IDs | Vega: OTTHUMG00000164276 OMIM: 165196 HGNC: HGNC:8154 Ensembl: ENSG00000082556 |
| Other names | KOR, OPRK, KOR-1, K-OR-1 |
| Summary | This gene encodes an opioid receptor, which is a member of the 7 transmembrane-spanning G protein-coupled receptor family. It functions as a receptor for endogenous ligands, as well as a receptor for various synthetic opioids. Ligand binding results in inhibition of adenylate cyclase activity and neurotransmitter release. This opioid receptor plays a role in the perception of pain and mediating the hypolocomotor, analgesic and aversive actions of synthetic opioids. Variations in this gene have also been associated with alcohol dependence and opiate addiction. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A recent study provided evidence for translational readthrough in this gene, and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Dec 2017] |
| 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; |