OR51Q1

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

Basic information

Region (hg38): 11:5422111-5423206

Links

ENSG00000167360 ∙ NCBI:390061 ∙ ∙ HGNC:14851 ∙ Uniprot:Q8NH59 ∙ 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 OR51Q1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR51Q1 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			25	1		26
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	25	1	0

Variants in OR51Q1

This is a list of pathogenic ClinVar variants found in the OR51Q1 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-5422229-A-G		not specified	Uncertain significance (Sep 01, 2021)
11-5422230-A-C		not specified	Likely benign (Sep 01, 2021)
11-5422232-G-A		not specified	Uncertain significance (Jan 16, 2024)
11-5422250-C-T		not specified	Uncertain significance (Oct 06, 2021)
11-5422297-G-A		not specified	Uncertain significance (Jan 22, 2024)
11-5422349-T-C		not specified	Uncertain significance (Dec 21, 2022)
11-5422355-G-C		not specified	Uncertain significance (Jan 26, 2022)
11-5422374-C-G		not specified	Uncertain significance (Jan 09, 2024)
11-5422379-G-A		not specified	Uncertain significance (Oct 25, 2023)
11-5422412-C-T		not specified	Uncertain significance (Sep 22, 2023)
11-5422496-G-C		not specified	Uncertain significance (Sep 25, 2024)
11-5422508-T-A		not specified	Uncertain significance (Nov 09, 2023)
11-5422529-C-T		not specified	Uncertain significance (Jan 16, 2024)
11-5422560-G-C		not specified	Uncertain significance (May 09, 2024)
11-5422570-T-A		not specified	Uncertain significance (Aug 01, 2024)
11-5422570-T-C		not specified	Likely benign (Nov 07, 2024)
11-5422607-C-G		not specified	Uncertain significance (May 16, 2023)
11-5422654-T-C		not specified	Uncertain significance (Apr 08, 2022)
11-5422658-G-T		not specified	Uncertain significance (Aug 17, 2022)
11-5422692-A-C		not specified	Uncertain significance (Sep 10, 2024)
11-5422714-C-T		not specified	Uncertain significance (Feb 03, 2022)
11-5422736-C-G		not specified	Uncertain significance (May 14, 2024)
11-5422763-G-C		not specified	Uncertain significance (Oct 12, 2022)
11-5422777-G-A		not specified	Uncertain significance (May 08, 2023)
11-5422849-G-C		not specified	Uncertain significance (May 08, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OR51Q1	protein_coding	protein_coding	ENST00000300778	1	1096

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000790	0.328	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-2.13	253	174	1.45	0.00000948	2060
Missense in Polyphen		99	63.851	1.5505		831
Synonymous	-2.20	91	67.9	1.34	0.00000361	675
Loss of Function	-0.103	6	5.73	1.05	3.33e-7	67

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)

Intolerance Scores

• loftool: 0.727
• rvis_EVS: 2.75
• rvis_percentile_EVS: 98.99

Haploinsufficiency Scores

• pHI: 0.128
• hipred: N
• hipred_score: 0.146

Essentials

• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0267

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Mouse Genome Informatics

• Gene name: Olfr638

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