OR10G4

olfactory receptor family 10 subfamily G member 4, the group of Olfactory receptors, family 10

Basic information

Region (hg38): 11:124012997-124018732

Links

ENSG00000254737 ∙ NCBI:390264 ∙ ∙ HGNC:14809 ∙ Uniprot:Q8NGN3 ∙ 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 OR10G4 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR10G4 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			26	3	1	30
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	26	4	1

Variants in OR10G4

This is a list of pathogenic ClinVar variants found in the OR10G4 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-124015593-G-A		not specified	Uncertain significance (Sep 04, 2024)
11-124015639-A-G		not specified	Uncertain significance (Jan 30, 2024)
11-124015643-C-A			Likely benign (Oct 01, 2024)
11-124015645-T-C			Benign (Nov 06, 2023)
11-124015675-T-G		not specified	Uncertain significance (Jul 10, 2024)
11-124015695-C-A		not specified	Uncertain significance (Aug 04, 2024)
11-124015798-C-T		not specified	Uncertain significance (Apr 04, 2023)
11-124015828-C-T		not specified	Uncertain significance (Jan 23, 2023)
11-124015830-C-G		not specified	Uncertain significance (Oct 12, 2022)
11-124015836-G-A		not specified	Uncertain significance (Sep 16, 2021)
11-124015839-A-C			Likely benign (Jul 01, 2023)
11-124015849-C-G		not specified	Uncertain significance (Feb 13, 2024)
11-124015855-A-T		not specified	Uncertain significance (Jun 28, 2022)
11-124015885-A-G		not specified	Uncertain significance (Nov 25, 2024)
11-124015923-A-G		not specified	Uncertain significance (Oct 10, 2023)
11-124015930-A-G		not specified	Uncertain significance (May 30, 2024)
11-124015953-T-A		not specified	Uncertain significance (Sep 07, 2024)
11-124015993-G-C		not specified	Uncertain significance (Aug 28, 2023)
11-124016023-G-A		not specified	Uncertain significance (Oct 22, 2021)
11-124016035-A-G		not specified	Uncertain significance (May 27, 2022)
11-124016086-A-G		not specified	Uncertain significance (Oct 28, 2024)
11-124016089-A-G		not specified	Likely benign (Sep 01, 2021)
11-124016101-A-G		not specified	Uncertain significance (Aug 01, 2024)
11-124016161-T-C		not specified	Uncertain significance (Feb 28, 2024)
11-124016182-G-A		not specified	Uncertain significance (Oct 09, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OR10G4	protein_coding	protein_coding	ENST00000320891	1	936

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000215	0.166	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.654	200	176	1.14	0.00000934	2005
Missense in Polyphen		56	56.033	0.99942		734
Synonymous	-0.863	84	74.5	1.13	0.00000449	661
Loss of Function	-0.889	6	4.07	1.48	1.74e-7	56

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: 0.0965

Intolerance Scores

• loftool: 0.454
• rvis_EVS: 2.31
• rvis_percentile_EVS: 98.35

Haploinsufficiency Scores

• pHI: 0.104
• hipred: N
• hipred_score: 0.139

Essentials

• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

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