OR51E1
protein-codingolfactory receptor family 51 subfamily E member 1, the group of Olfactory receptors, family 51
Gene 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. [provided by RefSeq, Jul 2008]
- OR51E1P
- OR52A3P
- GPR164
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~12.1 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to OR51E1 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_152430.4. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 46 | 4 | 50 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 46 | 4 | 0 | 50 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_689643.2 | 1 | MANE Select | |
| Ensembl | ENSP00000380155.5 | 1 | MANE Select | |
| Ensembl | ENSP00000431593.1 | 2 | Standard | |
| Ensembl | ENSP00000811943.1 | 1 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Olfactory transduction - Homo sapiens (human)
- Olfactory receptor activity
- Signaling by GPCR
- Signal Transduction
- Olfactory Signaling Pathway
Biological Process
- G protein-coupled receptor signaling pathway
- detection of chemical stimulus involved in sensory perception of smell
Molecular Function
- G protein-coupled receptor activity
- olfactory receptor activity
Cellular Component
- plasma membrane
- integral component of membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000396952
- Coding exons
- 1
- Length
- 12069
- Individuals with no LoFs
- 125373
- Homozygous LoFs
- 2
- Heterozygous LoFs
- 364
- Defined
- 125739
- p
- 0.00146
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.238 | 183 | 192 | 0.952 | 0.0000110 | 2046 |
| Missense (PolyPhen) | 63 | 68.782 | 0.91594 | 805 | ||
| Synonymous | -0.598 | 80 | 73.5 | 1.09 | 0.00000378 | 704 |
| Loss of Function | 0.423 | 4 | 5.02 | 0.796 | 2.10e-7 | 74 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00018 | 0.00018 | rare |
| Latino/Admixed American | 0.0032 | 0.0032 | notable |
| Ashkenazi Jewish | 0.0061 | 0.0061 | notable |
| East Asian | 0.000054 | 0.000054 | rare |
| Finnish | 0.00032 | 0.00032 | rare |
| European (Non-Finnish) | 0.0014 | 0.0014 | notable |
| South Asian | 0.00033 | 0.00033 | rare |
| Other | 0.0021 | 0.0021 | notable |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Odorant receptor. {ECO:0000305}.;
Recessive Scores
- pRec
- 0.112
Intolerance Scores
- LoFtool
- 0.715
- RVIS EVS
- 0.33
- RVIS percentile EVS
- 73.41
Essentials
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.116
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |