OR4C12

olfactory receptor family 4 subfamily C member 12, the group of Olfactory receptors, family 4

Basic information

Region (hg38): 11:49981472-49982535

Links

ENSG00000221954 ∙ NCBI:283093 ∙ ∙ HGNC:15168 ∙ Uniprot:Q96R67 ∙ 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 OR4C12 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR4C12 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			17	2		19
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	17	2	0

Variants in OR4C12

This is a list of pathogenic ClinVar variants found in the OR4C12 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-49981592-C-T		not specified	Uncertain significance (Dec 28, 2022)
11-49981693-G-C		not specified	Uncertain significance (Dec 17, 2023)
11-49981708-A-G		not specified	Uncertain significance (Apr 28, 2022)
11-49981754-C-T		not specified	Uncertain significance (Nov 09, 2021)
11-49981768-A-G		not specified	Uncertain significance (Oct 05, 2022)
11-49981777-A-T		not specified	Uncertain significance (May 25, 2022)
11-49981809-C-A		not specified	Uncertain significance (Aug 21, 2023)
11-49981826-T-A		not specified	Likely benign (Aug 30, 2022)
11-49981849-A-T		not specified	Uncertain significance (Jun 28, 2022)
11-49981922-C-G		not specified	Uncertain significance (Feb 21, 2024)
11-49981945-A-G		not specified	Uncertain significance (Aug 08, 2022)
11-49981974-C-G		not specified	Uncertain significance (Dec 06, 2021)
11-49981975-A-G		not specified	Uncertain significance (Jan 09, 2024)
11-49982068-A-G		not specified	Uncertain significance (Jan 08, 2024)
11-49982206-G-A		not specified	Likely benign (Jan 09, 2024)
11-49982209-T-G		not specified	Uncertain significance (Jan 10, 2022)
11-49982245-T-C		not specified	Uncertain significance (Jan 26, 2022)
11-49982332-A-G		not specified	Uncertain significance (Mar 19, 2024)
11-49982348-C-A		not specified	Uncertain significance (Jun 02, 2024)
11-49982428-G-A		Malignant tumor of prostate	Uncertain significance (-)
11-49982472-G-T		not specified	Uncertain significance (Oct 20, 2021)
11-49982473-A-G		not specified	Uncertain significance (Apr 22, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OR4C12	protein_coding	protein_coding	ENST00000335238	1	1063

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000379	0.225	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.33	207	160	1.30	0.00000722	2025
Missense in Polyphen		74	63.32	1.1687		846
Synonymous	-0.735	67	59.8	1.12	0.00000275	635
Loss of Function	-0.522	6	4.77	1.26	1.98e-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: 0.459
• rvis_EVS: 0.35
• rvis_percentile_EVS: 74.37

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.146

Essentials

• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.00781

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Olfr1259

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