OR51T1

protein-coding

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

Gene summary

Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]

MANE transcript

NM_001004759.3

Inheritance

—

ClinVar variants

U:64B:1

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.07

Max pathogenic AF

—

Genomic locus

chr11:4,881,819-4,882,883

External References & Databases

Ensembl (ENSG00000176900)

Transcript & Mutation Effects

hg38 • Region Span ~1.1 kb

Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to OR51T1 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 65

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001004759.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			63 clinvar	1 clinvar		64
nonsense						0
start loss			1 clinvar			1
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	64	1	0	65

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 3 of 3 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001004759.3	RefSeq	NP_001004759.2	1	MANE Select
ENST00000322049.1	Ensembl	ENSP00000322679.1	1	MANE Select
ENST00000380378.1	Ensembl	ENSP00000369738.1	1	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Olfactory transduction - Homo sapiens (human)
Olfactory receptor activity
Signaling by GPCR
Signal Transduction
Olfactory Signaling Pathway

Biological Process

G protein-coupled receptor signaling pathway
detection of chemical stimulus involved in sensory perception of smell

Molecular Function

G protein-coupled receptor activity
olfactory receptor activity

Cellular Component

plasma membrane
integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000380378
Coding exons: 1
Length: 1065
Individuals with no LoFs: 0
Homozygous LoFs: 0
Heterozygous LoFs: 0
Defined: 0
p: 0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.761	222	192	1.15	0.00000989	2315
Missense (PolyPhen)		81	73.065	1.1086		931
Synonymous	-1.56	90	73.1	1.23	0.00000372	745
Loss of Function	-0.167	7	6.54	1.07	3.64e-7	83

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0	0.0	absent
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Odorant receptor. {ECO:0000305}.;

Recessive Scores

pRec: 0.0874

Intolerance Scores

LoFtool: 0.630
RVIS EVS: -0.09
RVIS percentile EVS: 46.92

Essentials

Essential (CRISPR2): N
Indispensability pred.: N
Indispensability score: 0.0698

Gene Damage Prediction

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