OR6C6

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

Basic information

Region (hg38): 12:55293987-55296569

Links

ENSG00000188324 ∙ NCBI:283365 ∙ ∙ HGNC:31293 ∙ Uniprot:A6NF89 ∙ 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 OR6C6 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR6C6 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			15	2		17
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	15	2	0

Variants in OR6C6

This is a list of pathogenic ClinVar variants found in the OR6C6 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-55294302-T-C		not specified	Uncertain significance (Nov 18, 2022)
12-55294357-G-C		not specified	Uncertain significance (Nov 08, 2022)
12-55294514-G-C		not specified	Likely benign (Jan 26, 2023)
12-55294542-G-T		not specified	Uncertain significance (Sep 27, 2022)
12-55294742-A-G		not specified	Uncertain significance (Nov 18, 2022)
12-55294869-C-T		not specified	Likely benign (Jun 22, 2021)
12-55294958-T-A		not specified	Uncertain significance (Jan 19, 2022)
12-55295013-C-G		not specified	Uncertain significance (Sep 13, 2023)
12-55295027-A-T		not specified	Uncertain significance (May 08, 2024)
12-55295045-T-C		not specified	Uncertain significance (Nov 06, 2023)
12-55295079-G-A		not specified	Uncertain significance (May 06, 2022)
12-55295082-G-A		not specified	Uncertain significance (Jul 12, 2022)
12-55295109-T-A		not specified	Uncertain significance (May 20, 2024)
12-55295126-C-G		not specified	Uncertain significance (Aug 30, 2021)
12-55295127-T-G		not specified	Uncertain significance (Jan 31, 2024)
12-55295154-G-C		not specified	Uncertain significance (Jan 26, 2023)
12-55295159-A-G		not specified	Uncertain significance (Jun 03, 2024)
12-55295160-T-C		not specified	Uncertain significance (Mar 27, 2023)
12-55295183-T-A		not specified	Uncertain significance (Apr 23, 2024)
12-55295184-C-T		not specified	Likely benign (Mar 28, 2024)
12-55295193-C-T		not specified	Uncertain significance (Apr 12, 2022)
12-55295198-A-C		not specified	Uncertain significance (Sep 14, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OR6C6	protein_coding	protein_coding	ENST00000358433	1	945

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0222	0.776	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.907	196	163	1.20	0.00000770	2050
Missense in Polyphen		46	37.073	1.2408		567
Synonymous	0.278	59	61.8	0.955	0.00000292	631
Loss of Function	0.919	3	5.28	0.568	2.17e-7	82

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: 0.865
• rvis_EVS: 1.73
• rvis_percentile_EVS: 96.56

Haploinsufficiency Scores

• pHI: 0.100
• hipred: N
• hipred_score: 0.146

Essentials

• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0675

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Olfr804

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