OR8B12

olfactory receptor family 8 subfamily B member 12, the group of Olfactory receptors, family 8

Basic information

Region (hg38): 11:124539634-124545333

Links

ENSG00000170953 ∙ NCBI:219858 ∙ ∙ HGNC:15307 ∙ Uniprot:Q8NGG6 ∙ 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 OR8B12 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR8B12 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	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	15	1	0

Variants in OR8B12

This is a list of pathogenic ClinVar variants found in the OR8B12 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-124542752-C-G		not specified	Uncertain significance (Nov 10, 2022)
11-124542779-C-A		not specified	Uncertain significance (Oct 06, 2021)
11-124542884-C-T		not specified	Uncertain significance (Jan 31, 2022)
11-124542916-C-T		not specified	Uncertain significance (Jul 12, 2022)
11-124542926-G-T		not specified	Uncertain significance (Sep 14, 2023)
11-124543018-C-G		not specified	Uncertain significance (Jan 23, 2024)
11-124543163-G-T		not specified	Uncertain significance (Jan 31, 2024)
11-124543194-C-T		not specified	Uncertain significance (Jan 03, 2024)
11-124543308-G-A		not specified	Uncertain significance (Oct 05, 2023)
11-124543337-A-C		not specified	Uncertain significance (Mar 28, 2023)
11-124543357-G-A		not specified	Uncertain significance (Aug 11, 2022)
11-124543434-G-C		not specified	Uncertain significance (Dec 12, 2023)
11-124543452-A-G		not specified	Uncertain significance (Mar 21, 2022)
11-124543543-C-T		not specified	Likely benign (Jan 26, 2023)
11-124543549-C-A		not specified	Uncertain significance (Sep 06, 2022)
11-124543621-T-G		not specified	Uncertain significance (Nov 09, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OR8B12	protein_coding	protein_coding	ENST00000306842	1	998

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.260	0.647	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.205	163	171	0.956	0.00000860	2042
Missense in Polyphen		36	41.932	0.85854		610
Synonymous	-0.00525	71	70.9	1.00	0.00000388	649
Loss of Function	1.25	1	3.52	0.284	1.44e-7	60

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)

Recessive Scores

• pRec: 0.0903

Intolerance Scores

• loftool: 0.454
• rvis_EVS: 0.31
• rvis_percentile_EVS: 72.38

Haploinsufficiency Scores

• pHI: 0.123
• hipred: N
• hipred_score: 0.112

Essentials

• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0906

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Olfr876

Gene ontology

• Biological process: G protein-coupled receptor signaling pathway;sensory perception of smell;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;odorant binding