OR4C16

olfactory receptor family 4 subfamily C member 16, the group of Olfactory receptors, family 4

Basic information

Region (hg38): 11:55572128-55573060

Links

ENSG00000279514 ∙ NCBI:219428 ∙ ∙ HGNC:15172 ∙ Uniprot:Q8NGL9 ∙ 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 OR4C16 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR4C16 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			43	1		44
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	43	1	0

Variants in OR4C16

This is a list of pathogenic ClinVar variants found in the OR4C16 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-55572146-G-A		not specified	Uncertain significance (Feb 14, 2023)
11-55572150-C-T		not specified	Uncertain significance (Aug 08, 2023)
11-55572153-A-G		not specified	Uncertain significance (Feb 21, 2024)
11-55572167-G-A		not specified	Uncertain significance (Jul 25, 2023)
11-55572210-T-A		not specified	Uncertain significance (May 31, 2023)
11-55572218-C-T		not specified	Uncertain significance (May 08, 2023)
11-55572219-G-T		not specified	Likely benign (Jul 14, 2021)
11-55572233-A-G		not specified	Uncertain significance (Aug 02, 2021)
11-55572258-T-G		not specified	Uncertain significance (Sep 29, 2022)
11-55572275-A-G		not specified	Uncertain significance (Jan 04, 2024)
11-55572293-C-T		not specified	Uncertain significance (Apr 07, 2022)
11-55572305-T-C		not specified	Uncertain significance (Nov 02, 2023)
11-55572312-T-C		not specified	Uncertain significance (May 05, 2023)
11-55572313-C-G		not specified	Uncertain significance (May 24, 2024)
11-55572374-G-A		not specified	Uncertain significance (Jul 20, 2021)
11-55572389-A-G		not specified	Uncertain significance (Jun 07, 2023)
11-55572402-T-G		not specified	Uncertain significance (Nov 29, 2021)
11-55572404-A-C		not specified	Uncertain significance (Dec 17, 2023)
11-55572409-G-C		not specified	Uncertain significance (Oct 26, 2022)
11-55572432-C-A		not specified	Uncertain significance (Jan 10, 2022)
11-55572447-G-A		not specified	Uncertain significance (Sep 29, 2022)
11-55572456-T-C		not specified	Uncertain significance (Dec 09, 2023)
11-55572514-C-G		not specified	Uncertain significance (Feb 15, 2023)
11-55572520-G-A		not specified	Uncertain significance (Aug 19, 2023)
11-55572580-T-G		not specified	Uncertain significance (Feb 07, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Odorant receptor. {ECO:0000305}.
• Pathway: Olfactory transduction - Homo sapiens (human);Signaling by GPCR;Signal Transduction;Olfactory Signaling Pathway;G alpha (s) signalling events;GPCR downstream signalling (Consensus)

Intolerance Scores

• loftool: 0.838
• rvis_EVS: 2.47
• rvis_percentile_EVS: 98.62

Haploinsufficiency Scores

• pHI: 0.0741

Essentials

• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.00000651

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Olfr1209

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