OR1L6

olfactory receptor family 1 subfamily L member 6, the group of Olfactory receptors, family 1

Basic information

Region (hg38): 9:122742303-122750783

Previous symbols: [ "OR1L7" ]

Links

ENSG00000171459 ∙ NCBI:392390 ∙ ∙ HGNC:8218 ∙ Uniprot:Q8NGR2 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the OR1L6 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR1L6 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			19	1		20
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	19	1	0

Variants in OR1L6

This is a list of pathogenic ClinVar variants found in the OR1L6 region.

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

Position	Type	Phenotype	Significance	ClinVar
9-122750083-T-G		not specified	Uncertain significance (Jul 13, 2022)
9-122750121-G-A		not specified	Uncertain significance (Feb 05, 2024)
9-122750145-G-T		not specified	Uncertain significance (May 21, 2024)
9-122750170-T-C		not specified	Uncertain significance (May 09, 2024)
9-122750194-T-G		not specified	Uncertain significance (Mar 24, 2023)
9-122750242-A-C		not specified	Uncertain significance (Jun 11, 2021)
9-122750242-A-G		not specified	Uncertain significance (Sep 14, 2023)
9-122750251-T-C		not specified	Uncertain significance (Nov 08, 2022)
9-122750317-C-G		not specified	Uncertain significance (Aug 16, 2022)
9-122750326-G-A		not specified	Uncertain significance (May 23, 2023)
9-122750328-G-A		not specified	Uncertain significance (Jun 30, 2022)
9-122750343-C-T		not specified	Uncertain significance (Sep 14, 2023)
9-122750424-A-G		not specified	Uncertain significance (Mar 23, 2022)
9-122750454-G-A		not specified	Uncertain significance (Jul 14, 2022)
9-122750466-G-A		not specified	Uncertain significance (Aug 30, 2021)
9-122750515-T-C		not specified	Uncertain significance (Jun 05, 2024)
9-122750536-C-T		not specified	Uncertain significance (Apr 04, 2024)
9-122750608-G-A		not specified	Uncertain significance (Feb 17, 2024)
9-122750611-G-A		not specified	Uncertain significance (Feb 28, 2023)
9-122750613-A-G		not specified	Likely benign (Oct 20, 2021)
9-122750629-T-G		not specified	Uncertain significance (Oct 25, 2022)
9-122750736-G-T		not specified	Uncertain significance (May 05, 2023)
9-122750773-T-G		not specified	Uncertain significance (Aug 13, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OR1L6	protein_coding	protein_coding	ENST00000304720	1	1044

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000300	0.199	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.530	186	167	1.12	0.00000852	2029
Missense in Polyphen		74	66.679	1.1098		870
Synonymous	0.307	64	67.2	0.952	0.00000338	649
Loss of Function	-0.666	6	4.48	1.34	1.89e-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: 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)

Recessive Scores

• pRec: 0.0817

Intolerance Scores

• loftool: 0.725
• rvis_EVS: 0.99
• rvis_percentile_EVS: 90.56

Haploinsufficiency Scores

• pHI: 0.162
• hipred: N
• hipred_score: 0.112

Essentials

• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.00207

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

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