OR14C36

olfactory receptor family 14 subfamily C member 36, the group of Olfactory receptors, family 14

Basic information

Region (hg38): 1:248348775-248349713

Previous symbols: [ "OR5BF1" ]

Links

ENSG00000177174 ∙ NCBI:127066 ∙ ∙ HGNC:15026 ∙ Uniprot:Q8NHC7 ∙ 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 OR14C36 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR14C36 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			11			11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	11	0	0

Variants in OR14C36

This is a list of pathogenic ClinVar variants found in the OR14C36 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-248348781-A-G		not specified	Uncertain significance (Feb 02, 2024)
1-248348859-T-G		not specified	Uncertain significance (Oct 30, 2024)
1-248348953-T-C		not specified	Uncertain significance (Nov 07, 2022)
1-248349036-A-G		not specified	Uncertain significance (Feb 22, 2023)
1-248349069-G-A		not specified	Uncertain significance (Sep 11, 2024)
1-248349082-T-G		not specified	Uncertain significance (Apr 15, 2024)
1-248349174-G-A		not specified	Uncertain significance (Mar 07, 2024)
1-248349238-G-A		not specified	Uncertain significance (Sep 26, 2024)
1-248349285-G-A		not specified	Uncertain significance (Dec 16, 2023)
1-248349313-C-T		not specified	Uncertain significance (Sep 30, 2024)
1-248349316-C-G		not specified	Uncertain significance (Dec 07, 2024)
1-248349325-A-T		not specified	Uncertain significance (Jan 29, 2024)
1-248349354-G-A		not specified	Uncertain significance (Sep 29, 2022)
1-248349367-T-C		not specified	Uncertain significance (Feb 02, 2022)
1-248349394-G-T		not specified	Uncertain significance (Oct 01, 2024)
1-248349397-G-C		not specified	Uncertain significance (Sep 17, 2021)
1-248349415-G-A		not specified	Uncertain significance (Aug 15, 2024)
1-248349436-C-T		not specified	Uncertain significance (Oct 19, 2024)
1-248349502-T-A		not specified	Uncertain significance (Aug 02, 2023)
1-248349618-C-T		not specified	Uncertain significance (Nov 09, 2024)
1-248349690-A-G		not specified	Uncertain significance (Oct 03, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OR14C36	protein_coding	protein_coding	ENST00000317861	1	939

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	0.0512	173	175	0.989	0.00000874	2044
Missense in Polyphen		32	39.865	0.8027		573
Synonymous	-0.653	76	69.1	1.10	0.00000373	656
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: 0.695
• rvis_EVS: 0.82
• rvis_percentile_EVS: 87.95

Haploinsufficiency Scores

• pHI: 0.0162
• hipred: N
• hipred_score: 0.146

Essentials

• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0000666

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Mouse Genome Informatics

• Gene name: Olfr301

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