OR1J4

olfactory receptor family 1 subfamily J member 4, the group of Olfactory receptors, family 1

Basic information

Region (hg38): 9:122519141-122520082

Links

ENSG00000239590 ∙ NCBI:26219 ∙ ∙ HGNC:8211 ∙ Uniprot:Q8NGS1 ∙ 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 OR1J4 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR1J4 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			19	2		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	19	2	0

Variants in OR1J4

This is a list of pathogenic ClinVar variants found in the OR1J4 region.

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

Position	Type	Phenotype	Significance	ClinVar
9-122519148-G-A		not specified	Uncertain significance (Nov 24, 2024)
9-122519163-G-C		not specified	Uncertain significance (Dec 13, 2022)
9-122519168-T-G		not specified	Uncertain significance (Sep 09, 2024)
9-122519184-T-A		not specified	Uncertain significance (Dec 30, 2023)
9-122519238-G-A		not specified	Uncertain significance (Dec 02, 2022)
9-122519259-T-G		not specified	Uncertain significance (Jun 17, 2024)
9-122519289-G-A		not specified	Uncertain significance (Aug 20, 2024)
9-122519300-C-A		not specified	Likely benign (Jul 11, 2023)
9-122519310-C-A		not specified	Uncertain significance (Dec 11, 2023)
9-122519351-A-G		not specified	Likely benign (May 14, 2024)
9-122519379-A-G		not specified	Uncertain significance (Jul 13, 2021)
9-122519438-C-A		not specified	Uncertain significance (Jun 23, 2023)
9-122519444-T-C		not specified	Uncertain significance (Dec 20, 2023)
9-122519456-T-A		not specified	Uncertain significance (Jun 21, 2022)
9-122519492-A-G		not specified	Uncertain significance (Aug 02, 2023)
9-122519505-G-A		not specified	Uncertain significance (Jan 06, 2023)
9-122519513-G-A		not specified	Uncertain significance (Aug 28, 2024)
9-122519532-G-A		not specified	Likely benign (Oct 27, 2021)
9-122519541-C-G		not specified	Uncertain significance (Dec 14, 2021)
9-122519569-A-C		not specified	Uncertain significance (Aug 01, 2024)
9-122519573-G-A		not specified	Uncertain significance (Jul 05, 2023)
9-122519664-C-G		not specified	Uncertain significance (Jan 25, 2023)
9-122519667-A-G		not specified	Uncertain significance (Jun 17, 2024)
9-122519688-C-T		not specified	Uncertain significance (Dec 20, 2022)
9-122519697-A-G		not specified	Uncertain significance (Aug 04, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OR1J4	protein_coding	protein_coding	ENST00000340750	1	942

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0798	0.766	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0908	166	163	1.02	0.00000795	2034
Missense in Polyphen		34	42.812	0.79416		594
Synonymous	0.377	65	69.0	0.942	0.00000330	678
Loss of Function	1.03	2	4.32	0.463	1.84e-7	61

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: 0.680
• rvis_EVS: -0.38
• rvis_percentile_EVS: 27.69

Haploinsufficiency Scores

• pHI: 0.0962
• hipred: N
• hipred_score: 0.144
• ghis: 0.479

Essentials

• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.115

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Olfr350

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