OR11H4

olfactory receptor family 11 subfamily H member 4, the group of Olfactory receptors, family 11

Basic information

Region (hg38): 14:20239286-20244349

Links

ENSG00000176198 ∙ NCBI:390442 ∙ ∙ HGNC:15347 ∙ Uniprot:Q8NGC9 ∙ 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 OR11H4 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR11H4 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			22	2		24
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	22	2	0

Variants in OR11H4

This is a list of pathogenic ClinVar variants found in the OR11H4 region.

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

Position	Type	Phenotype	Significance	ClinVar
14-20242838-C-A		not specified	Uncertain significance (May 30, 2024)
14-20242846-G-C		not specified	Uncertain significance (Aug 27, 2024)
14-20242867-G-A		not specified	Uncertain significance (Oct 07, 2024)
14-20242870-T-C		not specified	Uncertain significance (Jan 04, 2024)
14-20242884-G-T		not specified	Uncertain significance (Dec 03, 2024)
14-20242903-T-C		not specified	Uncertain significance (Jul 08, 2021)
14-20242938-G-T		not specified	Uncertain significance (Jan 04, 2022)
14-20243074-A-T		not specified	Uncertain significance (Aug 09, 2021)
14-20243095-A-G		not specified	Uncertain significance (Aug 08, 2022)
14-20243111-G-A		not specified	Uncertain significance (Aug 12, 2024)
14-20243156-G-T		not specified	Uncertain significance (Feb 14, 2023)
14-20243164-C-A		not specified	Uncertain significance (Apr 18, 2023)
14-20243186-G-T		not specified	Uncertain significance (Jun 24, 2022)
14-20243191-C-G		not specified	Uncertain significance (Mar 20, 2024)
14-20243192-T-A		not specified	Uncertain significance (Jun 06, 2023)
14-20243218-C-T		not specified	Uncertain significance (Apr 08, 2022)
14-20243224-A-G		not specified	Uncertain significance (Oct 26, 2022)
14-20243228-T-G		not specified	Uncertain significance (Aug 04, 2024)
14-20243291-C-T		not specified	Uncertain significance (Nov 17, 2022)
14-20243305-T-C		not specified	Uncertain significance (Oct 02, 2023)
14-20243320-C-T		not specified	Uncertain significance (Mar 28, 2024)
14-20243345-A-T		not specified	Uncertain significance (Aug 09, 2021)
14-20243365-G-C		not specified	Uncertain significance (Feb 16, 2023)
14-20243380-C-A		not specified	Uncertain significance (Jul 15, 2021)
14-20243389-G-A		not specified	Uncertain significance (Mar 25, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OR11H4	protein_coding	protein_coding	ENST00000315409	1	1082

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.72e-9	0.0328	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.22	212	168	1.26	0.00000805	2096
Missense in Polyphen		69	43.844	1.5738		672
Synonymous	-0.984	75	64.9	1.16	0.00000311	683
Loss of Function	-1.01	11	7.94	1.39	4.70e-7	103

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)

Intolerance Scores

• loftool: 0.717
• rvis_EVS: 1.06
• rvis_percentile_EVS: 91.58

Haploinsufficiency Scores

• pHI: 0.0707
• hipred: N
• hipred_score: 0.112

Essentials

• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.107

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Olfr749

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