OPRK1
opioid receptor kappa 1, the group of Opioid receptors
Basic information
Region (hg38): 8:53225724-53251637
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the OPRK1 gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
| Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
|---|---|---|---|---|---|---|
| synonymous | 4 | |||||
| missense | 14 | 16 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 1 | |||||
| Total | 0 | 0 | 15 | 2 | 4 |
Variants in OPRK1
This is a list of pathogenic ClinVar variants found in the OPRK1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 8-53229320-C-T | Benign (Aug 16, 2018) | |||
| 8-53229425-G-A | not specified | Uncertain significance (Oct 26, 2022) | ||
| 8-53229442-A-G | not specified | Uncertain significance (Jan 29, 2024) | ||
| 8-53229481-T-C | not specified | Uncertain significance (Jul 11, 2022) | ||
| 8-53229492-G-A | Benign (Aug 16, 2018) | |||
| 8-53229529-T-C | not specified | Uncertain significance (Jun 07, 2023) | ||
| 8-53229588-G-A | Benign (Apr 19, 2018) | |||
| 8-53229675-G-A | Likely benign (May 17, 2018) | |||
| 8-53229717-G-C | not specified | Uncertain significance (Jul 27, 2021) | ||
| 8-53234771-T-C | Benign (Jul 13, 2018) | |||
| 8-53234959-A-G | not specified | Uncertain significance (Jan 03, 2022) | ||
| 8-53235074-A-G | not specified | Uncertain significance (Dec 03, 2021) | ||
| 8-53235109-T-C | not specified | Uncertain significance (May 27, 2022) | ||
| 8-53250820-C-G | not specified | Uncertain significance (Sep 20, 2023) | ||
| 8-53250894-C-G | not specified | Uncertain significance (Jul 14, 2023) | ||
| 8-53250921-G-A | Likely benign (Jun 19, 2018) | |||
| 8-53250943-C-A | not specified | Uncertain significance (Jul 13, 2021) | ||
| 8-53250967-G-C | not specified | Uncertain significance (Mar 03, 2022) | ||
| 8-53250989-C-G | not specified | Uncertain significance (Sep 16, 2021) | ||
| 8-53251000-C-T | not specified | Uncertain significance (Aug 08, 2023) | ||
| 8-53251003-G-A | not specified | Uncertain significance (May 25, 2022) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| OPRK1 | protein_coding | protein_coding | ENST00000265572 | 3 | 25974 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.0000406 | 0.638 | 125653 | 0 | 95 | 125748 | 0.000378 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.464 | 216 | 236 | 0.915 | 0.0000133 | 2506 |
| Missense in Polyphen | 99 | 122.32 | 0.80936 | 1327 | ||
| Synonymous | -0.680 | 102 | 93.6 | 1.09 | 0.00000517 | 771 |
| Loss of Function | 0.836 | 8 | 11.0 | 0.728 | 5.57e-7 | 122 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000467 | 0.000467 |
| Ashkenazi Jewish | 0.0000994 | 0.0000992 |
| East Asian | 0.0000555 | 0.0000544 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.000627 | 0.000624 |
| Middle Eastern | 0.0000555 | 0.0000544 |
| South Asian | 0.000164 | 0.000163 |
| Other | 0.000326 | 0.000326 |
dbNSFP
Source:
- Function
- FUNCTION: G-protein coupled opioid receptor that functions as receptor for endogenous alpha-neoendorphins and dynorphins, but has low affinity for beta-endorphins. Also functions as receptor for various synthetic opioids and for the psychoactive diterpene salvinorin A. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Signaling leads to the inhibition of adenylate cyclase activity. Inhibits neurotransmitter release by reducing calcium ion currents and increasing potassium ion conductance. Plays a role in the perception of pain. Plays a role in mediating reduced physical activity upon treatment with synthetic opioids. Plays a role in the regulation of salivation in response to synthetic opioids. May play a role in arousal and regulation of autonomic and neuroendocrine functions. {ECO:0000269|PubMed:12004055, ECO:0000269|PubMed:22437504, ECO:0000269|PubMed:7624359, ECO:0000269|PubMed:8060324}.;
- Pathway
- Neuroactive ligand-receptor interaction - Homo sapiens (human);Nalbuphine Action Pathway;Peptide GPCRs;Chemical Compounds to monitor Proteins;MECP2 and Associated Rett Syndrome;GPCRs, Class A Rhodopsin-like;Signaling by GPCR;Signal Transduction;repression of pain sensation by the transcriptional regulator dream;Peptide ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;G alpha (i) signalling events;GPCR downstream signalling
(Consensus)
Recessive Scores
- pRec
- 0.244
Intolerance Scores
- loftool
- 0.560
- rvis_EVS
- -0.29
- rvis_percentile_EVS
- 33.2
Haploinsufficiency Scores
- pHI
- 0.148
- hipred
- Y
- hipred_score
- 0.766
- ghis
- 0.538
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.781
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Oprk1
- Phenotype
- reproductive system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); digestive/alimentary phenotype; endocrine/exocrine gland phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); homeostasis/metabolism phenotype;
Gene ontology
- Biological process
- immune response;G protein-coupled receptor signaling pathway;adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway;phospholipase C-activating G protein-coupled receptor signaling pathway;neuropeptide signaling pathway;chemical synaptic transmission;sensory perception;locomotory behavior;response to radiation;sensory perception of pain;adenylate cyclase-inhibiting opioid receptor signaling pathway;response to insulin;positive regulation of dopamine secretion;negative regulation of luteinizing hormone secretion;opioid receptor signaling pathway;positive regulation of locomotion;maternal behavior;eating behavior;response to morphine;response to estrogen;estrous cycle;response to ethanol;regulation of saliva secretion;behavioral response to cocaine;sensory perception of temperature stimulus;defense response to virus;regulation of sensory perception of pain;cellular response to lipopolysaccharide;cellular response to glucose stimulus;positive regulation of p38MAPK cascade;positive regulation of potassium ion transmembrane transport;response to acrylamide;positive regulation of eating behavior;conditioned place preference
- Cellular component
- nucleus;cytosol;plasma membrane;integral component of plasma membrane;integral component of membrane;integral component of synaptic vesicle membrane;dendrite;perikaryon;axon terminus;integral component of postsynaptic membrane;integral component of presynaptic membrane
- Molecular function
- G protein-coupled receptor activity;opioid receptor activity;protein binding;receptor serine/threonine kinase binding;dynorphin receptor activity;peptide binding;neuropeptide binding