OR4F21

olfactory receptor family 4 subfamily F member 21, the group of Olfactory receptors, family 4

Basic information

Region (hg38): 8:166086-167024

Previous symbols: [ "OR4F21P" ]

Links

ENSG00000176269 ∙ NCBI:441308 ∙ ∙ HGNC:19583 ∙ Uniprot:O95013 ∙ 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 OR4F21 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR4F21 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				1		1
missense			23	2		25
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	3	0

Variants in OR4F21

This is a list of pathogenic ClinVar variants found in the OR4F21 region.

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

Position	Type	Phenotype	Significance	ClinVar
8-166092-G-C		not specified	Uncertain significance (Oct 16, 2023)
8-166096-T-C		not specified	Uncertain significance (Jun 18, 2021)
8-166146-C-G		not specified	Uncertain significance (Nov 10, 2024)
8-166172-C-T		not specified	Uncertain significance (Jan 16, 2024)
8-166190-T-C		not specified	Uncertain significance (Feb 10, 2022)
8-166211-C-T		not specified	Uncertain significance (Jul 14, 2024)
8-166217-A-T		not specified	Uncertain significance (Dec 10, 2024)
8-166274-A-C		not specified	Uncertain significance (Dec 17, 2021)
8-166288-A-C		not specified	Uncertain significance (Apr 26, 2023)
8-166355-T-A		not specified	Uncertain significance (Oct 04, 2024)
8-166370-C-T		not specified	Likely benign (Sep 17, 2021)
8-166463-C-T		not specified	Uncertain significance (Dec 15, 2022)
8-166478-G-A		not specified	Uncertain significance (Jan 26, 2023)
8-166484-G-A		not specified	Uncertain significance (Jun 16, 2023)
8-166498-C-G		not specified	Uncertain significance (May 17, 2023)
8-166508-C-T		not specified	Uncertain significance (May 02, 2023)
8-166551-G-C		not specified	Uncertain significance (Jan 03, 2024)
8-166570-C-G		not specified	Uncertain significance (Apr 25, 2022)
8-166573-A-G		not specified	Uncertain significance (Sep 16, 2021)
8-166630-T-C		not specified	Uncertain significance (Aug 02, 2021)
8-166642-T-C		not specified	Uncertain significance (Dec 19, 2022)
8-166645-C-A		not specified	Uncertain significance (Jan 04, 2022)
8-166646-A-G		not specified	Uncertain significance (Dec 19, 2022)
8-166719-G-C		not specified	Uncertain significance (Dec 06, 2022)
8-166749-G-C		not specified	Uncertain significance (Nov 07, 2022)

GnomAD

Source: gnomAD

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)

Haploinsufficiency Scores

• pHI: 0.174
• ghis: 0.394

Essentials

• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.00200

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Olfr1303

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