OR14A16

olfactory receptor family 14 subfamily A member 16, the group of Olfactory receptors, family 14

Basic information

Region (hg38): 1:247814660-247824119

Previous symbols: [ "OR5AT1" ]

Links

ENSG00000196772 ∙ NCBI:284532 ∙ ∙ HGNC:15022 ∙ Uniprot:Q8NHC5 ∙ 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 OR14A16 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR14A16 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 OR14A16

This is a list of pathogenic ClinVar variants found in the OR14A16 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-247814810-G-T		not specified	Uncertain significance (Mar 16, 2022)
1-247814867-C-T		not specified	Uncertain significance (Mar 31, 2024)
1-247814889-T-A		not specified	Uncertain significance (May 09, 2023)
1-247814930-A-C		not specified	Uncertain significance (Apr 20, 2023)
1-247814939-G-A		not specified	Uncertain significance (Jun 06, 2023)
1-247814946-C-G		not specified	Uncertain significance (May 18, 2022)
1-247814969-A-G		not specified	Uncertain significance (Jun 07, 2022)
1-247814973-A-T		not specified	Uncertain significance (Nov 02, 2023)
1-247815004-G-T		not specified	Uncertain significance (Dec 17, 2023)
1-247815098-A-C		not specified	Uncertain significance (Dec 11, 2023)
1-247815126-C-T		not specified	Uncertain significance (Jun 18, 2021)
1-247815134-A-T		not specified	Uncertain significance (Sep 16, 2021)
1-247815156-T-C		not specified	Uncertain significance (Sep 16, 2021)
1-247815209-T-C		not specified	Uncertain significance (Jan 03, 2024)
1-247815248-G-T		not specified	Uncertain significance (Jan 23, 2024)
1-247815260-T-A		not specified	Uncertain significance (Dec 11, 2023)
1-247815389-G-A		Malignant tumor of prostate	Uncertain significance (-)
1-247815450-C-T		not specified	Uncertain significance (May 01, 2024)
1-247815478-C-G		not specified	Uncertain significance (Dec 21, 2023)
1-247815543-T-G		not specified	Uncertain significance (Nov 14, 2023)
1-247815561-C-T		not specified	Uncertain significance (Oct 21, 2021)
1-247815583-C-G		not specified	Uncertain significance (May 10, 2022)
1-247815599-A-G		not specified	Uncertain significance (Jan 08, 2024)
1-247815600-T-C		not specified	Uncertain significance (Jun 07, 2024)
1-247815618-T-C		not specified	Uncertain significance (Apr 12, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OR14A16	protein_coding	protein_coding	ENST00000357627	1	930

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.114	159	163	0.975	0.00000773	2010
Missense in Polyphen		43	46.04	0.93397		651
Synonymous	-0.0889	65	64.1	1.01	0.00000332	637
Loss of Function

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish
East Asian
Finnish
European (Non-Finnish)
Middle Eastern
South Asian
Other

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: 0.578
• rvis_EVS: 0.64
• rvis_percentile_EVS: 83.9

Haploinsufficiency Scores

• pHI: 0.0244
• hipred: N
• hipred_score: 0.146

Essentials

• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.145

Gene Damage Prediction

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

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