OR10X1

olfactory receptor family 10 subfamily X member 1, the group of Olfactory receptors, family 10

Basic information

Region (hg38): 1:158578919-158579899

Previous symbols: [ "OR10X1P" ]

Links

ENSG00000279111 ∙ NCBI:128367 ∙ ∙ HGNC:14995 ∙ Uniprot:Q8NGY0 ∙ 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 OR10X1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR10X1 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			21	1	1	23
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	21	1	2

Variants in OR10X1

This is a list of pathogenic ClinVar variants found in the OR10X1 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-158578965-T-C		not specified	Uncertain significance (Apr 30, 2024)
1-158579005-T-C		not specified	Uncertain significance (Mar 30, 2024)
1-158579008-G-A		not specified	Uncertain significance (Mar 25, 2024)
1-158579012-G-A			Benign (Apr 05, 2018)
1-158579113-C-T			Benign (May 08, 2018)
1-158579130-C-G		not specified	Uncertain significance (Dec 09, 2023)
1-158579175-A-G		not specified	Uncertain significance (Dec 27, 2023)
1-158579197-C-T		not specified	Uncertain significance (Jul 20, 2021)
1-158579248-T-C		not specified	Uncertain significance (Jan 03, 2024)
1-158579256-A-G		not specified	Uncertain significance (Dec 21, 2023)
1-158579257-T-C		not specified	Likely benign (Dec 27, 2022)
1-158579316-C-A		not specified	Uncertain significance (Mar 16, 2022)
1-158579321-G-T		not specified	Uncertain significance (Jun 06, 2023)
1-158579338-T-C		not specified	Uncertain significance (Sep 27, 2021)
1-158579350-A-C		not specified	Uncertain significance (May 23, 2024)
1-158579436-A-G		not specified	Uncertain significance (Mar 28, 2023)
1-158579488-G-A		not specified	Uncertain significance (Jun 21, 2021)
1-158579509-G-A		not specified	Uncertain significance (Aug 26, 2022)
1-158579566-C-T		not specified	Uncertain significance (Jan 26, 2023)
1-158579580-C-G		not specified	Uncertain significance (Nov 30, 2021)
1-158579642-C-A		not specified	Uncertain significance (Dec 28, 2023)
1-158579682-G-T		not specified	Uncertain significance (Nov 27, 2023)
1-158579748-T-C		not specified	Uncertain significance (Aug 16, 2022)
1-158579778-G-A		not specified	Uncertain significance (Apr 27, 2024)
1-158579780-C-G		not specified	Uncertain significance (Aug 28, 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: 0.687
• rvis_EVS: 1.51
• rvis_percentile_EVS: 95.45

Haploinsufficiency Scores

• pHI: 0.0857
• hipred: N
• hipred_score: 0.146

Essentials

• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0188

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Olfr417

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