OR1N1

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

Basic information

Region (hg38): 9:122526358-122527293

Previous symbols: [ "OR1N3" ]

Links

ENSG00000171505 ∙ NCBI:138883 ∙ ∙ HGNC:8221 ∙ Uniprot:Q8NGS0 ∙ 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 OR1N1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR1N1 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 OR1N1

This is a list of pathogenic ClinVar variants found in the OR1N1 region.

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

Position	Type	Phenotype	Significance	ClinVar
9-122526362-G-A		not specified	Uncertain significance (Apr 12, 2024)
9-122526374-C-T		not specified	Uncertain significance (Jul 30, 2024)
9-122526440-G-A		not specified	Uncertain significance (May 27, 2022)
9-122526441-G-T			Uncertain significance (-)
9-122526483-C-A		not specified	Uncertain significance (Jun 22, 2023)
9-122526490-C-A		not specified	Uncertain significance (Dec 13, 2022)
9-122526507-T-C		not specified	Likely benign (Aug 10, 2021)
9-122526539-G-A		not specified	Uncertain significance (Apr 19, 2023)
9-122526540-T-G		not specified	Uncertain significance (Dec 19, 2023)
9-122526660-T-C		not specified	Uncertain significance (Jun 06, 2022)
9-122526684-C-T		not specified	Uncertain significance (Jan 06, 2023)
9-122526723-G-A		not specified	Uncertain significance (Dec 07, 2024)
9-122526806-C-T		not specified	Uncertain significance (Dec 13, 2023)
9-122526807-G-A		not specified	Uncertain significance (May 27, 2022)
9-122526811-C-T		not specified	Uncertain significance (Oct 24, 2024)
9-122526852-C-T		not specified	Uncertain significance (Aug 28, 2023)
9-122526872-A-G		not specified	Uncertain significance (Feb 06, 2023)
9-122526902-G-A		not specified	Uncertain significance (Jul 27, 2022)
9-122526918-G-A		not specified	Uncertain significance (Apr 11, 2023)
9-122526961-G-T		not specified	Uncertain significance (Dec 09, 2024)
9-122526993-A-C		not specified	Uncertain significance (May 08, 2024)
9-122527004-G-A		not specified	Uncertain significance (Aug 12, 2021)
9-122527016-G-A		not specified	Uncertain significance (Sep 14, 2022)
9-122527079-G-A		not specified	Uncertain significance (Dec 13, 2021)
9-122527100-G-T		not specified	Uncertain significance (Dec 19, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OR1N1	protein_coding	protein_coding	ENST00000304880	1	936

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	-0.364	192	178	1.08	0.00000921	2039
Missense in Polyphen		54	50.129	1.0772		627
Synonymous	0.924	62	72.0	0.861	0.00000403	648
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);GPCRs, Other;Olfactory receptor activity;Signaling by GPCR;Signal Transduction;Olfactory Signaling Pathway;G alpha (s) signalling events;GPCR downstream signalling (Consensus)

Intolerance Scores

• loftool: 0.699
• rvis_EVS: 0.49
• rvis_percentile_EVS: 79.38

Haploinsufficiency Scores

• pHI: 0.0803
• hipred: N
• hipred_score: 0.146

Essentials

• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.00447

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Olfr353

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