OR1K1

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

Basic information

Region (hg38): 9:122800123-122801073

Links

ENSG00000165204 ∙ ∙ ∙ HGNC:8212 ∙ Uniprot:Q8NGR3 ∙ 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 OR1K1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR1K1 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			24			24
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	24	1	0

Variants in OR1K1

This is a list of pathogenic ClinVar variants found in the OR1K1 region.

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

Position	Type	Phenotype	Significance	ClinVar
9-122800155-C-G		not specified	Uncertain significance (Feb 07, 2023)
9-122800176-G-A			Likely benign (Jun 01, 2022)
9-122800199-G-A		not specified	Uncertain significance (Jan 17, 2024)
9-122800219-T-G		not specified	Uncertain significance (Apr 25, 2023)
9-122800258-A-G		not specified	Uncertain significance (Sep 12, 2023)
9-122800302-G-A		not specified	Uncertain significance (Feb 01, 2023)
9-122800346-C-T		not specified	Uncertain significance (Oct 10, 2023)
9-122800351-G-A		not specified	Uncertain significance (Dec 09, 2023)
9-122800535-C-T		not specified	Uncertain significance (Apr 07, 2023)
9-122800537-C-T		not specified	Uncertain significance (May 24, 2023)
9-122800558-G-A		not specified	Uncertain significance (Aug 02, 2023)
9-122800612-A-G		not specified	Uncertain significance (Mar 17, 2023)
9-122800619-G-A		not specified	Likely benign (May 10, 2024)
9-122800727-C-A		not specified	Uncertain significance (Jul 26, 2022)
9-122800729-G-A		not specified	Uncertain significance (May 31, 2024)
9-122800750-A-T		not specified	Uncertain significance (Dec 13, 2023)
9-122800771-G-A		not specified	Uncertain significance (Apr 25, 2022)
9-122800828-C-G		not specified	Uncertain significance (Oct 25, 2022)
9-122800921-C-A		not specified	Uncertain significance (Feb 28, 2024)
9-122800921-C-T		not specified	Uncertain significance (Jul 19, 2023)
9-122800924-G-A		not specified	Uncertain significance (Mar 11, 2022)
9-122800940-G-C		not specified	Uncertain significance (Jul 19, 2022)
9-122800945-G-C		not specified	Uncertain significance (Oct 14, 2021)
9-122800973-C-T		not specified	Uncertain significance (Oct 26, 2022)
9-122800999-C-T		not specified	Uncertain significance (Oct 20, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OR1K1	protein_coding	protein_coding	ENST00000277309	1	1026

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00107	0.623	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0150	190	189	1.00	0.0000111	2001
Missense in Polyphen		46	50.502	0.91086		636
Synonymous	-0.692	95	86.8	1.09	0.00000527	726
Loss of Function	0.569	5	6.57	0.761	3.66e-7	74

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: 0.629
• rvis_EVS: -0.24
• rvis_percentile_EVS: 36.17

Haploinsufficiency Scores

• pHI: 0.0208
• hipred: N
• hipred_score: 0.146
• ghis: 0.422

Essentials

• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.128

Gene Damage Prediction

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

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