OR6K6

olfactory receptor family 6 subfamily K member 6, the group of Olfactory receptors, family 6

Basic information

Region (hg38): 1:158754719-158755891

Links

ENSG00000180433 ∙ NCBI:128371 ∙ ∙ HGNC:15033 ∙ Uniprot:Q8NGW6 ∙ 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 OR6K6 gene.

• Inborn genetic diseases (12 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR6K6 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			12			12
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	12	0	0

Variants in OR6K6

This is a list of pathogenic ClinVar variants found in the OR6K6 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-158754923-G-A		not specified	Uncertain significance (Dec 09, 2023)
1-158754930-G-A		not specified	Uncertain significance (Mar 01, 2024)
1-158754958-C-T		not specified	Uncertain significance (Sep 27, 2021)
1-158754984-A-G		not specified	Uncertain significance (Oct 10, 2023)
1-158755005-G-A		not specified	Uncertain significance (Nov 21, 2023)
1-158755065-C-A		not specified	Uncertain significance (Jun 22, 2023)
1-158755095-C-G		not specified	Uncertain significance (Apr 06, 2022)
1-158755129-C-A		not specified	Uncertain significance (Dec 04, 2023)
1-158755195-T-G		not specified	Uncertain significance (Feb 10, 2022)
1-158755251-A-G		not specified	Uncertain significance (Jun 27, 2022)
1-158755269-A-G		not specified	Uncertain significance (Sep 14, 2022)
1-158755324-T-G		not specified	Uncertain significance (Oct 16, 2023)
1-158755329-C-G		not specified	Uncertain significance (May 18, 2023)
1-158755341-T-A		not specified	Uncertain significance (Jul 19, 2022)
1-158755516-T-C		not specified	Uncertain significance (Jul 26, 2021)
1-158755554-C-T		not specified	Uncertain significance (Dec 09, 2023)
1-158755557-A-G		not specified	Uncertain significance (Mar 08, 2024)
1-158755570-T-G		not specified	Uncertain significance (Aug 12, 2021)
1-158755785-A-G		not specified	Uncertain significance (Oct 22, 2021)
1-158755828-C-A		not specified	Uncertain significance (Dec 03, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OR6K6	protein_coding	protein_coding	ENST00000368144	1	1172

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000919	0.589	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.342	193	180	1.07	0.00000851	2254
Missense in Polyphen		45	43.021	1.046		594
Synonymous	-1.11	79	67.4	1.17	0.00000331	694
Loss of Function	0.485	5	6.31	0.792	2.64e-7	90

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)

Recessive Scores

• pRec: 0.0643

Intolerance Scores

• loftool: 0.740
• rvis_EVS: 2.69
• rvis_percentile_EVS: 98.87

Haploinsufficiency Scores

• pHI: 0.0387
• hipred: N
• hipred_score: 0.123

Essentials

• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0000383

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Olfr231

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