OR11H6

olfactory receptor family 11 subfamily H member 6, the group of Olfactory receptors, family 11

Basic information

Region (hg38): 14:20223710-20224702

Links

ENSG00000176219 ∙ NCBI:122748 ∙ ∙ HGNC:15349 ∙ Uniprot:Q8NGC7 ∙ 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 OR11H6 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR11H6 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			20	1		21
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	1	0

Variants in OR11H6

This is a list of pathogenic ClinVar variants found in the OR11H6 region.

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

Position	Type	Phenotype	Significance	ClinVar
14-20223784-T-A		not specified	Uncertain significance (Oct 27, 2022)
14-20223867-A-C		not specified	Uncertain significance (Dec 28, 2023)
14-20223917-G-A		not specified	Uncertain significance (Jun 11, 2021)
14-20223939-T-A		not specified	Uncertain significance (Jun 18, 2021)
14-20223962-G-C		not specified	Uncertain significance (Feb 05, 2024)
14-20223973-G-C		not specified	Uncertain significance (Jun 18, 2021)
14-20224049-G-A		not specified	Uncertain significance (Jun 11, 2021)
14-20224072-C-A		not specified	Uncertain significance (Oct 24, 2023)
14-20224128-G-A		not specified	Uncertain significance (Jul 19, 2022)
14-20224188-T-C		not specified	Uncertain significance (Aug 10, 2021)
14-20224244-G-T		not specified	Uncertain significance (Oct 18, 2021)
14-20224295-G-T		not specified	Uncertain significance (Dec 06, 2023)
14-20224307-G-A		not specified	Uncertain significance (Dec 02, 2022)
14-20224340-C-T		not specified	Uncertain significance (May 23, 2023)
14-20224344-C-T		not specified	Uncertain significance (Sep 17, 2021)
14-20224409-G-A		not specified	Uncertain significance (Jan 10, 2023)
14-20224424-G-A		not specified	Uncertain significance (Jan 26, 2023)
14-20224434-C-G		not specified	Uncertain significance (Jun 05, 2024)
14-20224455-G-A		not specified	Uncertain significance (Jun 04, 2024)
14-20224490-T-A		not specified	Uncertain significance (May 05, 2023)
14-20224503-T-C		not specified	Uncertain significance (Sep 20, 2023)
14-20224583-A-G		not specified	Likely benign (Sep 28, 2022)
14-20224590-T-C		not specified	Uncertain significance (May 30, 2024)
14-20224595-T-C		not specified	Uncertain significance (Jan 10, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OR11H6	protein_coding	protein_coding	ENST00000315519	1	1174

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00104	0.617	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0354	174	173	1.01	0.00000801	2137
Missense in Polyphen		47	46.244	1.0163		667
Synonymous	0.442	62	66.6	0.931	0.00000298	708
Loss of Function	0.555	5	6.53	0.766	3.18e-7	93

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: 0.765
• rvis_EVS: 2.02
• rvis_percentile_EVS: 97.71

Haploinsufficiency Scores

• pHI: 0.0848
• hipred: N
• hipred_score: 0.131

Essentials

• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0655

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Olfr745

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