OR14J1

olfactory receptor family 14 subfamily J member 1, the group of Olfactory receptors, family 14

Basic information

Region (hg38): 6:29301701-29313017

Previous symbols: [ "OR5U1" ]

Links

ENSG00000204695 ∙ NCBI:442191 ∙ ∙ HGNC:13971 ∙ Uniprot:Q9UGF5 ∙ 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 OR14J1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR14J1 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			12	1		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	12	1	0

Variants in OR14J1

This is a list of pathogenic ClinVar variants found in the OR14J1 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-29306726-A-G		not specified	Uncertain significance (Jan 16, 2024)
6-29306781-T-C		not specified	Uncertain significance (Jan 10, 2023)
6-29306875-G-T		not specified	Uncertain significance (Aug 02, 2023)
6-29307045-A-G		not specified	Uncertain significance (Aug 12, 2021)
6-29307300-C-A		not specified	Uncertain significance (May 18, 2022)
6-29307318-T-A		not specified	Uncertain significance (Aug 22, 2023)
6-29307341-C-T		not specified	Uncertain significance (Jun 24, 2022)
6-29307344-A-G		not specified	Uncertain significance (Nov 03, 2023)
6-29307425-G-A		not specified	Uncertain significance (Dec 12, 2023)
6-29307501-T-G		not specified	Uncertain significance (Dec 26, 2023)
6-29307540-A-G		not specified	Uncertain significance (Feb 07, 2023)
6-29307611-C-T		not specified	Likely benign (May 05, 2023)
6-29307618-A-G		not specified	Uncertain significance (Feb 22, 2023)
6-29307627-T-A		not specified	Uncertain significance (May 20, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OR14J1	protein_coding	protein_coding	ENST00000377160	1	1117

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00167	0.284	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.292	159	170	0.937	0.00000920	2081
Missense in Polyphen		44	44.537	0.98795		643
Synonymous	-0.290	68	65.0	1.05	0.00000344	692
Loss of Function	-1.77	3	1.05	2.87	4.28e-8	20

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)

Recessive Scores

• pRec: 0.0876

Intolerance Scores

• loftool: 0.799
• rvis_EVS: 0.22
• rvis_percentile_EVS: 68.13

Haploinsufficiency Scores

• pHI: 0.0628
• hipred: N
• hipred_score: 0.144

Essentials

• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.268

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Olfr125

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