OR10C1

olfactory receptor family 10 subfamily C member 1, the group of Olfactory receptors, family 10

Basic information

Region (hg38): 6:29439305-29440977

Previous symbols: [ "OR10C2" ]

Links

ENSG00000206474 ∙ NCBI:442194 ∙ ∙ HGNC:8165 ∙ Uniprot:Q96KK4 ∙ 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 OR10C1 gene.

• Inborn genetic diseases (15 variants)
• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR10C1 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			14	1	1	16
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	14	2	1

Variants in OR10C1

This is a list of pathogenic ClinVar variants found in the OR10C1 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-29440096-C-A		not specified	Uncertain significance (Sep 21, 2023)
6-29440149-T-C		not specified	Uncertain significance (Jan 23, 2024)
6-29440163-A-G		not specified	Uncertain significance (Dec 15, 2021)
6-29440233-C-A		not specified	Uncertain significance (Apr 07, 2022)
6-29440277-C-T		not specified	Uncertain significance (Feb 05, 2024)
6-29440278-G-A		not specified	Likely benign (Jan 26, 2023)
6-29440338-C-A		not specified	Uncertain significance (Jan 18, 2023)
6-29440341-C-A		not specified	Uncertain significance (Sep 14, 2023)
6-29440352-C-T		not specified	Uncertain significance (Jan 04, 2022)
6-29440426-C-T			Likely benign (Apr 01, 2022)
6-29440485-G-T		not specified	Uncertain significance (Jan 04, 2022)
6-29440488-A-G		not specified	Uncertain significance (Sep 06, 2022)
6-29440592-C-T		not specified	Uncertain significance (Feb 12, 2024)
6-29440623-C-T		not specified	Uncertain significance (Dec 20, 2023)
6-29440671-G-A		not specified	Uncertain significance (Jan 16, 2024)
6-29440692-G-T		not specified	Uncertain significance (Mar 01, 2024)
6-29440712-C-A		not specified	Uncertain significance (Oct 05, 2023)
6-29440712-C-T		not specified	Uncertain significance (Nov 21, 2023)
6-29440728-C-G		not specified	Uncertain significance (Jul 06, 2022)
6-29440773-C-T		not specified	Uncertain significance (May 27, 2022)
6-29440826-C-A		not specified	Uncertain significance (Oct 14, 2021)
6-29440841-T-A		not specified	Uncertain significance (Feb 22, 2023)
6-29440850-G-A		not specified	Uncertain significance (Jan 04, 2022)
6-29440872-C-A		not specified	Uncertain significance (Aug 09, 2021)
6-29440875-T-A		not specified	Uncertain significance (Jun 06, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OR10C1	protein_coding	protein_coding	ENST00000444197	1	1649

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.740	0.250	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.340	170	183	0.929	0.0000120	1972
Missense in Polyphen		60	58.753	1.0212		731
Synonymous	0.560	76	82.5	0.922	0.00000533	716
Loss of Function	1.95	0	4.45	0.00	1.92e-7	55

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: 0.664
• rvis_EVS: 3.71
• rvis_percentile_EVS: 99.57

Haploinsufficiency Scores

• pHI: 0.0316
• hipred: N
• hipred_score: 0.242
• ghis: 0.394

Essentials

• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.199

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Olfr95

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