OR51B4

olfactory receptor family 51 subfamily B member 4, the group of Olfactory receptors, family 51

Basic information

Region (hg38): 11:5301013-5301946

Links

ENSG00000183251 ∙ NCBI:79339 ∙ ∙ HGNC:14708 ∙ Uniprot:Q9Y5P0 ∙ 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 OR51B4 gene.

• Inborn genetic diseases (19 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR51B4 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	2		19
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	2	0

Variants in OR51B4

This is a list of pathogenic ClinVar variants found in the OR51B4 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-5301105-G-C		not specified	Uncertain significance (Mar 11, 2022)
11-5301136-T-C		not specified	Uncertain significance (Apr 07, 2023)
11-5301226-G-A		not specified	Uncertain significance (Sep 07, 2022)
11-5301243-A-G		not specified	Uncertain significance (Jan 09, 2024)
11-5301273-A-G		not specified	Uncertain significance (Jul 09, 2021)
11-5301279-A-T		not specified	Uncertain significance (Sep 16, 2021)
11-5301293-G-C		not specified	Uncertain significance (Sep 13, 2023)
11-5301327-T-C		not specified	Uncertain significance (Jun 05, 2023)
11-5301378-G-A		not specified	Uncertain significance (Jun 29, 2023)
11-5301380-G-C		not specified	Uncertain significance (Nov 03, 2023)
11-5301413-A-T		not specified	Uncertain significance (Jan 30, 2024)
11-5301442-G-A		not specified	Uncertain significance (Dec 19, 2022)
11-5301525-A-G		not specified	Uncertain significance (Aug 12, 2021)
11-5301526-T-C		not specified	Likely benign (Aug 02, 2021)
11-5301597-T-C		not specified	Uncertain significance (Dec 15, 2023)
11-5301601-C-T		not specified	Uncertain significance (Mar 25, 2022)
11-5301615-A-C		not specified	Uncertain significance (Nov 09, 2023)
11-5301624-T-G		not specified	Uncertain significance (Jun 03, 2022)
11-5301673-G-T		not specified	Uncertain significance (Dec 11, 2023)
11-5301678-A-G		not specified	Uncertain significance (May 01, 2022)
11-5301726-G-A		not specified	Uncertain significance (Apr 12, 2022)
11-5301734-C-G		not specified	Uncertain significance (Mar 28, 2023)
11-5301747-G-A		not specified	Uncertain significance (Nov 29, 2023)
11-5301753-G-A		not specified	Uncertain significance (Dec 01, 2022)
11-5301876-C-T		not specified	Uncertain significance (Feb 07, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OR51B4	protein_coding	protein_coding	ENST00000380224	1	983

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000695	0.529	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.631	195	172	1.14	0.00000845	2035
Missense in Polyphen		50	38.453	1.3003		543
Synonymous	-0.0466	65	64.5	1.01	0.00000316	641
Loss of Function	0.328	5	5.86	0.854	3.29e-7	77

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: 0.778
• rvis_EVS: 1.93
• rvis_percentile_EVS: 97.47

Haploinsufficiency Scores

• pHI: 0.109
• hipred: N
• hipred_score: 0.146

Essentials

• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 8.02e-7

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Olfr66

Gene ontology

• Biological process: G protein-coupled receptor signaling pathway;sensory perception of smell;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