OR9I1

olfactory receptor family 9 subfamily I member 1, the group of Olfactory receptors, family 9

Basic information

Region (hg38): 11:58116741-58125530

Links

ENSG00000172377 ∙ NCBI:219954 ∙ ∙ HGNC:14718 ∙ Uniprot:Q8NGQ6 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• Tourette syndrome (No Known Disease Relationship), mode of inheritance: Unknown

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the OR9I1 gene.

• Inborn genetic diseases (13 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR9I1 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			13			13
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	13	0	0

Variants in OR9I1

This is a list of pathogenic ClinVar variants found in the OR9I1 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-58118547-C-T		not specified	Uncertain significance (Jul 09, 2021)
11-58118556-C-T		not specified	Uncertain significance (Feb 15, 2023)
11-58118561-T-C		not specified	Uncertain significance (Apr 19, 2023)
11-58118625-C-T		not specified	Uncertain significance (Oct 20, 2023)
11-58118634-C-T		not specified	Uncertain significance (Apr 06, 2022)
11-58118697-G-T		not specified	Uncertain significance (Oct 27, 2022)
11-58118741-G-T		not specified	Uncertain significance (Oct 05, 2022)
11-58118795-G-A		not specified	Uncertain significance (Nov 27, 2023)
11-58118841-A-G		not specified	Uncertain significance (Jun 29, 2023)
11-58118926-T-G		not specified	Uncertain significance (Aug 08, 2022)
11-58118969-C-T		not specified	Uncertain significance (Aug 08, 2022)
11-58118982-C-T		not specified	Uncertain significance (Jan 08, 2024)
11-58118993-C-T		not specified	Uncertain significance (Oct 02, 2023)
11-58119002-G-A		not specified	Uncertain significance (Apr 28, 2022)
11-58119005-C-G		not specified	Uncertain significance (Jun 23, 2021)
11-58119150-C-T		not specified	Uncertain significance (Dec 14, 2023)
11-58119152-G-A		not specified	Uncertain significance (Aug 26, 2022)
11-58119165-A-G		not specified	Uncertain significance (Jan 09, 2024)
11-58119207-G-C		not specified	Uncertain significance (Dec 20, 2023)
11-58119219-C-T		not specified	Uncertain significance (Mar 01, 2023)
11-58119227-T-C			Uncertain significance (-)
11-58119366-G-A		not specified	Uncertain significance (Jan 04, 2022)
11-58119371-A-G		not specified	Uncertain significance (Dec 30, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OR9I1	protein_coding	protein_coding	ENST00000302610	1	945

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.378	0.581	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.519	189	170	1.11	0.00000819	2045
Missense in Polyphen		45	54.831	0.8207		762
Synonymous	-0.762	80	71.8	1.11	0.00000376	665
Loss of Function	1.61	1	4.81	0.208	1.97e-7	80

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)

Recessive Scores

• pRec: 0.0959

Intolerance Scores

• loftool: 0.432
• rvis_EVS: 0.31
• rvis_percentile_EVS: 72.38

Haploinsufficiency Scores

• pHI: 0.0628
• hipred: N
• hipred_score: 0.203

Essentials

• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.238

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Olfr1505

Gene ontology

• Biological process: G protein-coupled receptor signaling pathway;sensory perception of smell;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;odorant binding