OR10H3

olfactory receptor family 10 subfamily H member 3, the group of Olfactory receptors, family 10

Basic information

Region (hg38): 19:15737985-15742343

Links

ENSG00000171936 ∙ NCBI:26532 ∙ ∙ HGNC:8174 ∙ Uniprot:O60404 ∙ 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 OR10H3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR10H3 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			27	3		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	27	3	0

Variants in OR10H3

This is a list of pathogenic ClinVar variants found in the OR10H3 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-15741519-A-C		not specified	Uncertain significance (Sep 25, 2023)
19-15741552-C-T		not specified	Uncertain significance (Dec 15, 2022)
19-15741567-C-G		not specified	Uncertain significance (Aug 28, 2024)
19-15741619-T-C		not specified	Uncertain significance (Apr 12, 2023)
19-15741628-C-A		not specified	Uncertain significance (Feb 23, 2023)
19-15741628-C-T		not specified	Uncertain significance (Jan 09, 2024)
19-15741634-G-A		not specified	Uncertain significance (Aug 01, 2024)
19-15741657-A-G		not specified	Uncertain significance (Apr 06, 2024)
19-15741664-G-A		not specified	Likely benign (Jan 09, 2024)
19-15741691-T-A		not specified	Uncertain significance (Nov 21, 2024)
19-15741810-C-T		not specified	Uncertain significance (Mar 25, 2024)
19-15741811-G-T		not specified	Uncertain significance (Jan 08, 2024)
19-15741849-G-A		not specified	Uncertain significance (Mar 01, 2024)
19-15741853-C-G		not specified	Uncertain significance (Dec 14, 2023)
19-15741874-C-A		not specified	Uncertain significance (Oct 29, 2024)
19-15741894-A-G		not specified	Uncertain significance (Mar 15, 2024)
19-15741904-G-A		not specified	Uncertain significance (Aug 20, 2024)
19-15741939-C-T		not specified	Uncertain significance (Apr 22, 2022)
19-15741946-T-C		not specified	Uncertain significance (Oct 05, 2023)
19-15741958-C-T		not specified	Uncertain significance (Nov 28, 2023)
19-15741967-G-A		not specified	Likely benign (Feb 10, 2023)
19-15741987-A-G		not specified	Uncertain significance (Nov 08, 2022)
19-15742063-T-C		not specified	Uncertain significance (Dec 02, 2022)
19-15742084-C-T		not specified	Uncertain significance (Jul 30, 2024)
19-15742099-G-A		not specified	Uncertain significance (Aug 05, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OR10H3	protein_coding	protein_coding	ENST00000305892	1	951

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00217	0.323	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.548	183	163	1.12	0.00000825	2088
Missense in Polyphen		44	39.633	1.1102		589
Synonymous	-0.891	70	61.1	1.15	0.00000293	648
Loss of Function	-1.25	3	1.40	2.15	6.05e-8	17

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;GPCRs, Class A Rhodopsin-like;Signaling by GPCR;Signal Transduction;Olfactory Signaling Pathway;G alpha (s) signalling events;GPCR downstream signalling (Consensus)

Recessive Scores

• pRec: 0.0828

Intolerance Scores

• loftool: 0.668
• rvis_EVS: 1.42
• rvis_percentile_EVS: 94.89

Haploinsufficiency Scores

• pHI: 0.0309
• hipred: N
• hipred_score: 0.112

Essentials

• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 3.75e-8

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Olfr63

Gene ontology

• Biological process: G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger;chemical synaptic transmission;detection of chemical stimulus involved in sensory perception of smell;G protein-coupled serotonin receptor signaling pathway
• Cellular component: plasma membrane;integral component of plasma membrane;dendrite
• Molecular function: G protein-coupled receptor activity;olfactory receptor activity;G protein-coupled serotonin receptor activity;neurotransmitter receptor activity