OR11L1

olfactory receptor family 11 subfamily L member 1, the group of Olfactory receptors, family 11

Basic information

Region (hg38): 1:247840928-247841896

Links

ENSG00000197591NCBI:391189HGNC:14998Uniprot:Q8NGX0AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the OR11L1 gene.

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
clinvar
1
clinvar
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)2277469
1-247840960-A-G not specified Uncertain significance (Oct 20, 2023)3204735
1-247840971-C-T not specified Uncertain significance (Sep 20, 2023)3204734
1-247841038-G-A not specified Uncertain significance (Mar 19, 2024)3302493
1-247841073-G-C not specified Uncertain significance (Jan 26, 2022)2390888
1-247841161-C-T not specified Uncertain significance (Jun 01, 2023)2512458
1-247841178-G-T not specified Uncertain significance (Jan 09, 2024)2375924
1-247841263-A-G not specified Uncertain significance (Jul 25, 2023)2597217
1-247841281-C-T not specified Uncertain significance (Jan 04, 2022)2269177
1-247841339-C-G not specified Uncertain significance (Mar 01, 2024)3204732
1-247841344-T-G not specified Uncertain significance (Mar 27, 2023)2521566
1-247841372-G-T not specified Uncertain significance (Oct 27, 2022)2320959
1-247841484-C-T not specified Uncertain significance (Jan 02, 2024)3204731
1-247841505-C-T not specified Likely benign (Oct 20, 2021)2219475
1-247841566-C-T not specified Uncertain significance (Apr 21, 2022)2214627
1-247841584-C-T not specified Uncertain significance (Feb 14, 2023)2472238
1-247841628-T-G not specified Uncertain significance (Jul 14, 2021)3204730
1-247841736-C-A not specified Uncertain significance (Aug 23, 2021)2246592
1-247841755-C-T not specified Uncertain significance (Sep 22, 2023)3204728
1-247841758-T-C not specified Uncertain significance (Jun 10, 2024)3302494

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
OR11L1protein_codingprotein_codingENST00000355784 11056
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.05010.86800000.00
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.3481901771.070.000009372090
Missense in Polyphen6560.6171.0723760
Synonymous-0.01327473.91.000.00000397681
Loss of Function1.4437.150.4193.92e-771

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.000.00
Middle Eastern0.000.00
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

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