OR2T27

olfactory receptor family 2 subfamily T member 27, the group of Olfactory receptors, family 2

Basic information

Region (hg38): 1:248649838-248655528

Links

ENSG00000187701 ∙ NCBI:403239 ∙ ∙ HGNC:31252 ∙ Uniprot:Q8NH04 ∙ 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 OR2T27 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR2T27 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				1		1
missense			30	2		32
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	30	3	0

Variants in OR2T27

This is a list of pathogenic ClinVar variants found in the OR2T27 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-248649977-T-A		not specified	Uncertain significance (Jun 05, 2024)
1-248649989-C-G		not specified	Uncertain significance (Nov 07, 2022)
1-248650025-G-A		not specified	Uncertain significance (Mar 01, 2023)
1-248650067-G-C		not specified	Uncertain significance (Dec 06, 2022)
1-248650078-C-A		not specified	Uncertain significance (Dec 06, 2022)
1-248650079-T-G		not specified	Uncertain significance (Dec 06, 2022)
1-248650085-G-C		not specified	Uncertain significance (Dec 06, 2022)
1-248650098-G-A		not specified	Uncertain significance (Feb 13, 2024)
1-248650110-A-G		not specified	Uncertain significance (Feb 17, 2024)
1-248650119-T-C		not specified	Uncertain significance (Jan 08, 2024)
1-248650139-C-T		not specified	Uncertain significance (Jul 12, 2023)
1-248650152-T-C		not specified	Uncertain significance (Jun 28, 2022)
1-248650165-G-A			Likely benign (Mar 01, 2022)
1-248650176-C-A		not specified	Uncertain significance (Aug 03, 2022)
1-248650181-C-T		not specified	Uncertain significance (Jul 25, 2023)
1-248650199-C-T		not specified	Uncertain significance (Dec 14, 2022)
1-248650212-C-G		not specified	Uncertain significance (Jan 17, 2024)
1-248650310-G-A		not specified	Uncertain significance (Mar 23, 2022)
1-248650355-A-T		not specified	Uncertain significance (Dec 21, 2022)
1-248650371-G-A		not specified	Uncertain significance (Mar 31, 2023)
1-248650406-G-A		not specified	Uncertain significance (Apr 10, 2023)
1-248650406-G-T		not specified	Uncertain significance (Aug 05, 2023)
1-248650410-G-A		not specified	Uncertain significance (Feb 27, 2024)
1-248650469-T-C		not specified	Likely benign (Mar 31, 2024)
1-248650472-C-T		not specified	Uncertain significance (Dec 27, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OR2T27	protein_coding	protein_coding	ENST00000344889	1	954

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000121	0.121	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.97	238	166	1.43	0.00000855	1971
Missense in Polyphen		71	47.561	1.4928		701
Synonymous	-2.24	87	64.2	1.36	0.00000345	620
Loss of Function	-1.32	6	3.38	1.77	1.42e-7	43

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: 0.973
• rvis_EVS: 0.33
• rvis_percentile_EVS: 73.54

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.139

Essentials

• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.152

Gene Damage Prediction

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

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