OR5T1

olfactory receptor family 5 subfamily T member 1, the group of Olfactory receptors, family 5

Basic information

Region (hg38): 11:56274154-56276819

Previous symbols: [ "OR5T1P" ]

Links

ENSG00000181698 ∙ NCBI:390155 ∙ ∙ HGNC:14821 ∙ Uniprot:Q8NG75 ∙ 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 OR5T1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR5T1 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			22	1		23
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	22	1	0

Variants in OR5T1

This is a list of pathogenic ClinVar variants found in the OR5T1 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-56275662-G-A		not specified	Uncertain significance (May 27, 2022)
11-56275705-A-G		not specified	Uncertain significance (Aug 30, 2021)
11-56275853-A-G		not specified	Uncertain significance (Aug 12, 2021)
11-56275882-G-A		not specified	Uncertain significance (Feb 14, 2023)
11-56275921-G-A		not specified	Uncertain significance (Oct 12, 2022)
11-56275927-T-C		not specified	Uncertain significance (Mar 31, 2024)
11-56276003-C-T		not specified	Uncertain significance (May 18, 2022)
11-56276014-C-A		not specified	Uncertain significance (Jan 11, 2023)
11-56276098-G-A		not specified	Uncertain significance (Mar 25, 2024)
11-56276138-A-G		not specified	Uncertain significance (May 08, 2023)
11-56276189-A-G		not specified	Uncertain significance (Nov 17, 2023)
11-56276202-T-A		not specified	Uncertain significance (Feb 17, 2024)
11-56276231-C-T		not specified	Uncertain significance (Oct 25, 2023)
11-56276248-A-G		not specified	Uncertain significance (Apr 07, 2023)
11-56276299-G-T		not specified	Uncertain significance (Sep 01, 2021)
11-56276305-A-G		not specified	Uncertain significance (Feb 10, 2023)
11-56276311-A-T		not specified	Uncertain significance (Oct 06, 2021)
11-56276342-T-G		not specified	Uncertain significance (Dec 21, 2022)
11-56276344-G-T		not specified	Uncertain significance (Nov 08, 2021)
11-56276365-G-A		not specified	Uncertain significance (May 09, 2022)
11-56276399-G-C		not specified	Uncertain significance (Nov 15, 2021)
11-56276447-T-A		not specified	Uncertain significance (May 27, 2022)
11-56276447-T-G		not specified	Uncertain significance (Jun 30, 2022)
11-56276477-C-T		not specified	Likely benign (Aug 10, 2021)
11-56276552-G-A		not specified	Uncertain significance (Aug 13, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OR5T1	protein_coding	protein_coding	ENST00000313033	1	1118

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.45	218	166	1.32	0.00000772	2129
Missense in Polyphen		29	30.111	0.96311		453
Synonymous	-1.83	81	62.6	1.29	0.00000302	664
Loss of Function

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish
East Asian
Finnish
European (Non-Finnish)
Middle Eastern
South Asian
Other

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: 0.825
• rvis_EVS: -0.16
• rvis_percentile_EVS: 42.06

Haploinsufficiency Scores

• pHI: 0.0685
• hipred: N
• hipred_score: 0.112
• ghis: 0.401

Essentials

• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.00193

Gene Damage Prediction

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

Gene ontology

• Biological process: synaptic transmission, dopaminergic;adenylate cyclase-modulating G protein-coupled receptor signaling pathway;adenylate cyclase-inhibiting dopamine receptor signaling pathway;regulation of dopamine secretion;response to drug;behavioral response to cocaine;detection of chemical stimulus involved in sensory perception of smell;adenylate cyclase-activating adrenergic receptor signaling pathway
• Cellular component: plasma membrane;integral component of plasma membrane
• Molecular function: dopamine neurotransmitter receptor activity, coupled via Gi/Go;adrenergic receptor activity;olfactory receptor activity;dopamine binding