OR10G7

olfactory receptor family 10 subfamily G member 7, the group of Olfactory receptors, family 10

Basic information

Region (hg38): 11:124036013-124041325

Links

ENSG00000182634 ∙ NCBI:390265 ∙ ∙ HGNC:14842 ∙ Uniprot:Q8NGN6 ∙ 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 OR10G7 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR10G7 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			29			29
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	29	1	0

Variants in OR10G7

This is a list of pathogenic ClinVar variants found in the OR10G7 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-124038112-G-A		not specified	Uncertain significance (Dec 19, 2022)
11-124038125-C-T		not specified	Uncertain significance (Feb 05, 2024)
11-124038151-G-T		not specified	Uncertain significance (May 27, 2022)
11-124038176-T-C		not specified	Uncertain significance (Feb 05, 2024)
11-124038209-C-T		not specified	Uncertain significance (Jan 25, 2023)
11-124038268-A-G		not specified	Uncertain significance (Sep 17, 2021)
11-124038282-A-C		not specified	Uncertain significance (Sep 01, 2021)
11-124038287-T-C		not specified	Uncertain significance (Mar 02, 2023)
11-124038304-C-T		not specified	Uncertain significance (Oct 26, 2021)
11-124038326-G-A		not specified	Uncertain significance (Mar 02, 2023)
11-124038338-A-G		not specified	Uncertain significance (Oct 13, 2023)
11-124038346-G-A		not specified	Uncertain significance (Feb 23, 2023)
11-124038394-C-T		not specified	Uncertain significance (Mar 06, 2023)
11-124038399-A-G			Likely benign (Jul 01, 2023)
11-124038401-T-C		not specified	Uncertain significance (Oct 26, 2022)
11-124038404-C-A		not specified	Uncertain significance (Oct 26, 2022)
11-124038404-C-G		not specified	Uncertain significance (Dec 06, 2021)
11-124038509-A-T		not specified	Uncertain significance (Nov 07, 2022)
11-124038532-A-G		not specified	Uncertain significance (Dec 28, 2022)
11-124038558-C-A		not specified	Uncertain significance (Mar 07, 2023)
11-124038589-C-G		not specified	Uncertain significance (Sep 16, 2021)
11-124038735-C-A		not specified	Uncertain significance (Nov 03, 2022)
11-124038836-G-T		not specified	Uncertain significance (Aug 18, 2021)
11-124038838-G-T		not specified	Uncertain significance (Feb 23, 2023)
11-124038881-G-C		not specified	Uncertain significance (Dec 30, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OR10G7	protein_coding	protein_coding	ENST00000330487	1	945

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000294	0.361	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.31	221	172	1.28	0.00000953	1978
Missense in Polyphen		68	54.618	1.245		735
Synonymous	-1.18	95	81.4	1.17	0.00000533	683
Loss of Function	-0.184	5	4.58	1.09	1.98e-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: 0.0892

Intolerance Scores

• loftool: 0.766
• rvis_EVS: 1.77
• rvis_percentile_EVS: 96.82

Haploinsufficiency Scores

• pHI: 0.0674
• hipred: N
• hipred_score: 0.139

Essentials

• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0202

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Olfr978

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