OR51L1

olfactory receptor family 51 subfamily L member 1, the group of Olfactory receptors, family 51

Basic information

Region (hg38): 11:4994851-5005536

Links

ENSG00000176798NCBI:119682HGNC:14759Uniprot:Q8NGJ5AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the OR51L1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR51L1 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
14
clinvar
14
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 14 0 0

Variants in OR51L1

This is a list of pathogenic ClinVar variants found in the OR51L1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
11-4999019-A-C not specified Uncertain significance (Nov 14, 2023)3205840
11-4999025-A-T not specified Uncertain significance (Dec 13, 2022)2251236
11-4999122-T-A not specified Uncertain significance (Sep 19, 2022)2377845
11-4999167-A-T not specified Uncertain significance (Oct 04, 2022)2382338
11-4999275-C-G not specified Uncertain significance (May 04, 2023)2544036
11-4999298-A-C not specified Uncertain significance (Mar 12, 2024)3205839
11-4999313-T-C not specified Uncertain significance (Jul 11, 2023)2589369
11-4999364-A-G not specified Uncertain significance (Jul 06, 2021)2346606
11-4999364-A-T not specified Uncertain significance (Jun 29, 2023)2607634
11-4999404-G-A not specified Uncertain significance (Dec 14, 2023)3205841
11-4999539-T-C not specified Uncertain significance (Feb 15, 2023)2484680
11-4999787-C-A not specified Uncertain significance (Sep 06, 2022)2395636
11-4999788-A-C not specified Uncertain significance (Dec 18, 2023)3205842
11-4999913-C-G not specified Uncertain significance (Sep 13, 2023)2591346

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
OR51L1protein_codingprotein_codingENST00000321543 1948
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.0009050.58600000.00
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.1061701661.020.000008102046
Missense in Polyphen6564.2921.011854
Synonymous-1.167563.31.190.00000290681
Loss of Function0.47656.290.7953.69e-781

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
0.489
rvis_EVS
1.57
rvis_percentile_EVS
95.74

Haploinsufficiency Scores

pHI
0.0527
hipred
N
hipred_score
0.146
ghis

Essentials

essential_gene_CRISPR
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.00957

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Gene ontology

Biological process
G protein-coupled receptor signaling pathway;detection of chemical stimulus involved in sensory perception of smell
Cellular component
plasma membrane;integral component of membrane
Molecular function
G protein-coupled receptor activity;olfactory receptor activity