OR1F1

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

Basic information

Region (hg38): 16:3188204-3224779

Previous symbols: [ "OR1F4", "OR1F6", "OR1F7", "OR1F8", "OR1F9", "OR1F5", "OR1F10", "OR1F13P" ]

Links

ENSG00000168124 ∙ NCBI:4992 ∙ OMIM:603232 ∙ HGNC:8194 ∙ Uniprot:O43749 ∙ 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 OR1F1 gene.

• Inborn genetic diseases (27 variants)
• not provided (3 variants)
• Hirschsprung disease, susceptibility to, 1 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR1F1 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			16	3	3	22
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			9			9
Total	0	0	25	3	3

Variants in OR1F1

This is a list of pathogenic ClinVar variants found in the OR1F1 region.

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

Position	Type	Phenotype	Significance	ClinVar
16-3204264-G-C		not specified	Uncertain significance (Feb 05, 2024)
16-3204280-T-C		not specified	Uncertain significance (Oct 22, 2021)
16-3204293-G-A		Hirschsprung disease, susceptibility to, 1	Likely benign (-)
16-3204296-T-A		not specified	Uncertain significance (Jun 02, 2023)
16-3204372-C-A		not specified	Uncertain significance (Feb 06, 2023)
16-3204399-A-G		not specified	Uncertain significance (Mar 28, 2024)
16-3204406-T-C		not specified	Likely benign (May 15, 2024)
16-3204412-C-T		not specified	Uncertain significance (Apr 12, 2024)
16-3204424-T-C			Benign (Aug 02, 2017)
16-3204445-T-C		not specified	Uncertain significance (Aug 12, 2021)
16-3204478-G-A		not specified	Likely benign (Dec 16, 2021)
16-3204488-T-G		not specified	Uncertain significance (Oct 06, 2022)
16-3204497-A-G		not specified	Uncertain significance (Apr 19, 2024)
16-3204502-A-G		not specified	Uncertain significance (Mar 13, 2023)
16-3204523-T-A		not specified	Uncertain significance (Nov 07, 2023)
16-3204569-T-G		not specified	Uncertain significance (Jul 05, 2023)
16-3204575-T-A		not specified	Uncertain significance (Feb 15, 2023)
16-3204586-C-A		not specified	Uncertain significance (Mar 28, 2024)
16-3204611-A-G			Benign (Dec 04, 2017)
16-3204622-G-A			Benign (Dec 04, 2017)
16-3204646-G-A		not specified	Likely benign (Oct 06, 2022)
16-3204797-T-C		not specified	Uncertain significance (Sep 28, 2021)
16-3204830-A-G		not specified	Uncertain significance (Jan 09, 2024)
16-3204911-C-A		not specified	Uncertain significance (May 18, 2022)
16-3204976-C-T		not specified	Uncertain significance (Jan 19, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OR1F1	protein_coding	protein_coding	ENST00000304646	1	942

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000356	0.114	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-2.46	248	160	1.55	0.00000794	2045
Missense in Polyphen		42	33.528	1.2527		532
Synonymous	-1.91	91	70.6	1.29	0.00000387	661
Loss of Function	-0.992	7	4.68	1.49	2.02e-7	60

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);GPCRs, Other;Olfactory receptor activity;GPCRs, Class A Rhodopsin-like;Signaling by GPCR;Signal Transduction;Olfactory Signaling Pathway;G alpha (s) signalling events;GPCR downstream signalling (Consensus)

Recessive Scores

• pRec: 0.0952

Intolerance Scores

• loftool: 0.623
• rvis_EVS: 1.75
• rvis_percentile_EVS: 96.7

Haploinsufficiency Scores

• pHI: 0.178
• hipred: N
• hipred_score: 0.146

Essentials

• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0545

Gene Damage Prediction

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

Gene ontology

• Biological process: signal transduction;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