OR4C3

olfactory receptor family 4 subfamily C member 3, the group of Olfactory receptors, family 4

Basic information

Region (hg38): 11:48324920-48325955

Links

ENSG00000176547

∙ NCBI:256144 ∙ ∙ HGNC:14697 ∙ Uniprot:Q8NH37 ∙ 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 OR4C3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR4C3 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				2 clinvar		2
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	2	0

Variants in OR4C3

This is a list of pathogenic ClinVar variants found in the OR4C3 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-48325117-C-T			Likely benign (Jul 01, 2024)	3257655
11-48325591-G-A			Likely benign (Nov 01, 2024)	3067279

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OR4C3	protein_coding	protein_coding	ENST00000319856	1	1036

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.39e-10	0.00571	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-2.26	223	146	1.53	0.00000648	1947
Missense in Polyphen		71	49.713	1.4282		733
Synonymous	-3.49	92	58.2	1.58	0.00000262	621
Loss of Function	-2.74	11	4.63	2.38	1.95e-7	77

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: 0.694
rvis_EVS: -0.07
rvis_percentile_EVS: 48.69

Haploinsufficiency Scores

pHI: 0.0588
hipred: N
hipred_score: 0.170
ghis: 0.404

Essentials

essential_gene_CRISPR
essential_gene_CRISPR2: S
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.0613

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Olfr1264
Phenotype

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