OR11L1
Basic information
Region (hg38): 1:247840928-247841896
Links
Phenotypes
GenCC
Source:
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 OR11L1 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 | 0 | |||||
missense | 17 | 18 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 17 | 1 | 0 |
Variants in OR11L1
This is a list of pathogenic ClinVar variants found in the OR11L1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
1-247840938-A-G | not specified | Uncertain significance (Feb 17, 2022) | ||
1-247840960-A-G | not specified | Uncertain significance (Oct 20, 2023) | ||
1-247840971-C-T | not specified | Uncertain significance (Sep 20, 2023) | ||
1-247841038-G-A | not specified | Uncertain significance (Mar 19, 2024) | ||
1-247841073-G-C | not specified | Uncertain significance (Jan 26, 2022) | ||
1-247841161-C-T | not specified | Uncertain significance (Jun 01, 2023) | ||
1-247841178-G-T | not specified | Uncertain significance (Jan 09, 2024) | ||
1-247841263-A-G | not specified | Uncertain significance (Jul 25, 2023) | ||
1-247841281-C-T | not specified | Uncertain significance (Jan 04, 2022) | ||
1-247841339-C-G | not specified | Uncertain significance (Mar 01, 2024) | ||
1-247841344-T-G | not specified | Uncertain significance (Mar 27, 2023) | ||
1-247841372-G-T | not specified | Uncertain significance (Oct 27, 2022) | ||
1-247841484-C-T | not specified | Uncertain significance (Jan 02, 2024) | ||
1-247841505-C-T | not specified | Likely benign (Oct 20, 2021) | ||
1-247841566-C-T | not specified | Uncertain significance (Apr 21, 2022) | ||
1-247841584-C-T | not specified | Uncertain significance (Feb 14, 2023) | ||
1-247841628-T-G | not specified | Uncertain significance (Jul 14, 2021) | ||
1-247841736-C-A | not specified | Uncertain significance (Aug 23, 2021) | ||
1-247841755-C-T | not specified | Uncertain significance (Sep 22, 2023) | ||
1-247841758-T-C | not specified | Uncertain significance (Jun 10, 2024) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
OR11L1 | protein_coding | protein_coding | ENST00000355784 | 1 | 1056 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.0501 | 0.868 | 0 | 0 | 0 | 0 | 0.00 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | -0.348 | 190 | 177 | 1.07 | 0.00000937 | 2090 |
Missense in Polyphen | 65 | 60.617 | 1.0723 | 760 | ||
Synonymous | -0.0132 | 74 | 73.9 | 1.00 | 0.00000397 | 681 |
Loss of Function | 1.44 | 3 | 7.15 | 0.419 | 3.92e-7 | 71 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.00 | 0.00 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.00 | 0.00 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.00 | 0.00 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.00 | 0.00 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Odorant receptor. {ECO:0000305}.;
- Pathway
- Olfactory transduction - Homo sapiens (human);Olfactory receptor activity;Signaling by GPCR;Signal Transduction;Olfactory Signaling Pathway;G alpha (s) signalling events;GPCR downstream signalling
(Consensus)
Intolerance Scores
- loftool
- 0.615
- rvis_EVS
- 1.02
- rvis_percentile_EVS
- 90.98
Haploinsufficiency Scores
- pHI
- 0.0713
- hipred
- N
- hipred_score
- 0.170
- ghis
Essentials
- essential_gene_CRISPR
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.132
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Olfr323
- Phenotype
Gene ontology
- Biological process
- G protein-coupled receptor signaling pathway;sensory perception of smell;biological_process;detection of chemical stimulus involved in sensory perception of smell
- Cellular component
- plasma membrane;integral component of membrane;extracellular exosome
- Molecular function
- molecular_function;G protein-coupled receptor activity;olfactory receptor activity;odorant binding