OR10J1

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

Basic information

Region (hg38): 1:159437845-159443078

Links

ENSG00000196184 ∙ NCBI:26476 ∙ ∙ HGNC:8175 ∙ Uniprot:P30954 ∙ 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 OR10J1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR10J1 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			23			23
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	23	0	0

Variants in OR10J1

This is a list of pathogenic ClinVar variants found in the OR10J1 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-159439808-T-A		not specified	Uncertain significance (Jan 12, 2024)
1-159439859-A-G		not specified	Uncertain significance (Mar 06, 2023)
1-159439870-C-G		not specified	Uncertain significance (Jun 28, 2022)
1-159439879-G-A		not specified	Uncertain significance (Aug 02, 2021)
1-159439898-T-C		not specified	Uncertain significance (Apr 20, 2024)
1-159439940-G-A		not specified	Uncertain significance (Sep 06, 2022)
1-159440003-C-A		not specified	Uncertain significance (Sep 07, 2022)
1-159440018-T-C		not specified	Uncertain significance (Dec 16, 2021)
1-159440047-G-A		not specified	Uncertain significance (Dec 19, 2023)
1-159440092-A-G		not specified	Uncertain significance (May 03, 2023)
1-159440108-C-A		not specified	Uncertain significance (Jun 29, 2022)
1-159440125-T-C		not specified	Uncertain significance (Jan 17, 2023)
1-159440155-C-G		not specified	Uncertain significance (Jan 09, 2024)
1-159440225-T-C		not specified	Uncertain significance (Dec 13, 2023)
1-159440236-T-A		not specified	Uncertain significance (Feb 28, 2023)
1-159440332-C-T		not specified	Uncertain significance (May 14, 2024)
1-159440335-C-T		not specified	Uncertain significance (May 03, 2023)
1-159440372-A-G		not specified	Uncertain significance (Dec 21, 2022)
1-159440393-T-C		not specified	Uncertain significance (Sep 19, 2023)
1-159440421-G-A		not specified	Uncertain significance (May 04, 2022)
1-159440546-G-A		not specified	Uncertain significance (Jul 09, 2021)
1-159440552-C-T		not specified	Uncertain significance (Jun 13, 2024)
1-159440561-C-T		not specified	Uncertain significance (Aug 16, 2022)
1-159440623-A-G		not specified	Uncertain significance (Jun 24, 2022)
1-159440696-G-A		not specified	Uncertain significance (Dec 27, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OR10J1	protein_coding	protein_coding	ENST00000423932	1	1089

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
6.38e-7	0.0808	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.86	233	166	1.41	0.00000847	2082
Missense in Polyphen		70	47.508	1.4734		707
Synonymous	-2.97	95	64.6	1.47	0.00000322	675
Loss of Function	-1.03	8	5.41	1.48	3.20e-7	79

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)

Intolerance Scores

• loftool: 0.772
• rvis_EVS: 1.13
• rvis_percentile_EVS: 92.23

Haploinsufficiency Scores

• pHI: 0.115
• hipred: N
• hipred_score: 0.170

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: Olfr418

Gene ontology

• Biological process: G protein-coupled receptor signaling pathway;single fertilization;sensory perception of chemical stimulus;detection of chemical stimulus involved in sensory perception of smell
• Cellular component: plasma membrane;integral component of plasma membrane
• Molecular function: G protein-coupled receptor activity;olfactory receptor activity