OR9G1

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

Basic information

Region (hg38): 11:56699095-56703884

Previous symbols: [ "OR9G5" ]

Links

ENSG00000174914 ∙ NCBI:390174 ∙ ∙ HGNC:15319 ∙ Uniprot:Q8NH87 ∙ 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 OR9G1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR9G1 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				1		1
missense			14	2		16
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	14	3	0

Variants in OR9G1

This is a list of pathogenic ClinVar variants found in the OR9G1 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-56699609-T-C		not specified	Likely benign (Apr 02, 2020)
11-56700484-G-A		not specified	Uncertain significance (Jan 09, 2024)
11-56700674-G-T		not specified	Uncertain significance (Oct 04, 2022)
11-56700697-G-T		not specified	Uncertain significance (Nov 20, 2023)
11-56700796-A-G		not specified	Uncertain significance (Jun 22, 2024)
11-56700810-A-G			Likely benign (Sep 01, 2022)
11-56700847-A-G		not specified	Uncertain significance (Sep 22, 2023)
11-56700883-A-G		not specified	Uncertain significance (Jan 29, 2024)
11-56700893-G-A		not specified	Likely benign (Sep 22, 2022)
11-56700916-T-C		not specified	Uncertain significance (Nov 09, 2023)
11-56700922-G-C		not specified	Uncertain significance (Jan 04, 2022)
11-56700947-C-A		not specified	Uncertain significance (Jun 05, 2024)
11-56701001-A-G		not specified	Uncertain significance (Aug 17, 2022)
11-56701015-G-A		not specified	Likely benign (Aug 16, 2021)
11-56701030-G-A		not specified	Uncertain significance (Mar 22, 2023)
11-56701045-A-G		not specified	Uncertain significance (Dec 06, 2022)
11-56701053-C-A			Likely benign (Jun 01, 2024)
11-56701064-G-A		not specified	Uncertain significance (Apr 15, 2024)
11-56701158-C-G		not specified	Uncertain significance (Jul 25, 2023)
11-56701162-G-C		not specified	Uncertain significance (May 02, 2024)
11-56701165-C-G		not specified	Uncertain significance (Mar 07, 2024)
11-56701234-A-G		not specified	Uncertain significance (Feb 28, 2024)
11-56701298-T-C		not specified	Uncertain significance (Sep 22, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OR9G1	protein_coding	protein_coding	ENST00000312153	1	918

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000448	0.439	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.64	190	136	1.40	0.00000678	1828
Missense in Polyphen		46	34.671	1.3268		535
Synonymous	-2.34	84	60.8	1.38	0.00000341	575
Loss of Function	0.0734	5	5.18	0.965	2.24e-7	86

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: 0.0930

Intolerance Scores

• loftool: 0.708
• rvis_EVS: 1.24
• rvis_percentile_EVS: 93.39

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.146

Essentials

• essential_gene_CRISPR2: N
• 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	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Olfr1014

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