| Variant ID | 1100 |
|---|---|
| Entrez Gene ID | 4988 |
| Gene | OPRM1 (GeneCards) |
| Location | hg19 6:154412943-154412943
hg38 6:154091808-154091808 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000006.11:g.154412943 G>A (Genome Assembly: hg19) |
| 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 | NA |
| mRNA length | NA |
| Reference length | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.3042 |
| CADD Raw score (version 1.3) | 0.04097 (Deleterious) |
| FATHMM raw prediction score | 0.18532 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| FitCons score | 0.061 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | -1.36 |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.013 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 0.414 |
| Deleterious probability by DeFine | 0.7407 (Deleterious) |
| Entrez Gene ID | 4988 (NCBI Gene) |
|---|---|
| Official Gene Symbol | OPRM1 (GeneCards) |
| Number of variants in OPRM1 in this database | 1 (view all the variants) |
| Full name | opioid receptor mu 1 |
| Band | 6q25.2 |
| Other IDs | Vega: OTTHUMG00000015870 OMIM: 600018 HGNC: HGNC:8156 Ensembl: ENSG00000112038 |
| Other names | MOP, MOR, LMOR, MOR1, OPRM, M-OR-1 |
| Summary | This gene encodes one of at least three opioid receptors in humans; the mu opioid receptor (MOR). The MOR is the principal target of endogenous opioid peptides and opioid analgesic agents such as beta-endorphin and enkephalins. The MOR also has an important role in dependence to other drugs of abuse, such as nicotine, cocaine, and alcohol via its modulation of the dopamine system. The NM_001008503.2:c.118A>G allele has been associated with opioid and alcohol addiction and variations in pain sensitivity but evidence for it having a causal role is conflicting. Multiple transcript variants encoding different isoforms have been found for this gene. Though the canonical MOR belongs to the superfamily of 7-transmembrane-spanning G-protein-coupled receptors some isoforms of this gene have only 6 transmembrane domains. [provided by RefSeq, Oct 2013] |
| 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; |