OR10H1

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

Basic information

Region (hg38): 19:15804549-15815664

Links

ENSG00000186723 ∙ NCBI:26539 ∙ ∙ HGNC:8172 ∙ Uniprot:Q9Y4A9 ∙ 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 OR10H1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR10H1 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				7	6	13
missense			20	3	5	28
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	20	10	11

Variants in OR10H1

This is a list of pathogenic ClinVar variants found in the OR10H1 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-15807198-C-A			Benign (Jun 21, 2018)
19-15807280-T-C		not specified	Uncertain significance (Dec 11, 2023)
19-15807287-C-T		not specified	Uncertain significance (Oct 16, 2023)
19-15807302-G-A		not specified	Uncertain significance (Jun 17, 2024)
19-15807334-C-T		not specified	Uncertain significance (Jan 23, 2023)
19-15807362-T-C		not specified	Uncertain significance (Feb 23, 2023)
19-15807367-G-T			Benign (Dec 31, 2019)
19-15807421-G-A		not specified	Likely benign (Jun 09, 2022)
19-15807446-T-G		not specified	Uncertain significance (Feb 10, 2022)
19-15807465-G-A			Benign (Dec 31, 2019)
19-15807514-T-A		not specified	Uncertain significance (Apr 08, 2022)
19-15807538-G-T		not specified	Uncertain significance (Jul 11, 2023)
19-15807539-C-T			Benign (Dec 31, 2019)
19-15807562-A-G		not specified	Uncertain significance (Aug 14, 2023)
19-15807575-T-C		not specified	Uncertain significance (Feb 15, 2023)
19-15807580-A-G		not specified	Likely benign (Sep 13, 2023)
19-15807602-C-T		not specified	Uncertain significance (Apr 07, 2022)
19-15807607-A-C		not specified	Uncertain significance (Jun 10, 2022)
19-15807624-C-A			Benign (Dec 31, 2019)
19-15807631-A-C		not specified	Uncertain significance (Aug 04, 2021)
19-15807638-C-A		not specified	Uncertain significance (Jul 10, 2023)
19-15807638-C-G		not specified	Uncertain significance (Nov 23, 2021)
19-15807646-C-T		not specified	Uncertain significance (Feb 14, 2023)
19-15807658-C-G		not specified	Uncertain significance (Jul 14, 2023)
19-15807673-C-T			Benign (Jun 21, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OR10H1	protein_coding	protein_coding	ENST00000334920	1	1120

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000547	0.273	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0578	202	200	1.01	0.0000122	2063
Missense in Polyphen		37	51.466	0.71892		661
Synonymous	-0.771	100	90.7	1.10	0.00000618	675
Loss of Function	-0.307	6	5.24	1.14	2.23e-7	65

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: 0.0950

Intolerance Scores

• loftool: 0.479
• rvis_EVS: 0.58
• rvis_percentile_EVS: 82.17

Haploinsufficiency Scores

• pHI: 0.154
• hipred: N
• hipred_score: 0.255
• ghis: 0.411

Essentials

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

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Olfr55

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