OR4F17

olfactory receptor family 4 subfamily F member 17, the group of Olfactory receptors, family 4

Basic information

Region (hg38): 19:107104-117102

Previous symbols: [ "OR4F19", "OR4F11P", "OR4F18" ]

Links

ENSG00000176695 ∙ NCBI:81099 ∙ ∙ HGNC:15381 ∙ Uniprot:Q8NGA8 ∙ 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 OR4F17 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR4F17 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			22	2		24
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	22	2	0

Variants in OR4F17

This is a list of pathogenic ClinVar variants found in the OR4F17 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-110761-A-G		not specified	Uncertain significance (Jun 02, 2023)
19-110798-A-G		not specified	Uncertain significance (Nov 07, 2023)
19-110848-C-G		not specified	Uncertain significance (Mar 05, 2024)
19-110851-A-G		not specified	Uncertain significance (Dec 04, 2024)
19-110890-C-A		not specified	Uncertain significance (Nov 11, 2024)
19-110890-C-T		not specified	Uncertain significance (Apr 15, 2024)
19-110893-C-T		not specified	Uncertain significance (Jun 29, 2022)
19-110922-C-T		not specified	Uncertain significance (Mar 07, 2024)
19-110923-G-A		not specified	Uncertain significance (Feb 28, 2023)
19-110925-A-C		not specified	Uncertain significance (Mar 31, 2022)
19-110935-C-G		not specified	Uncertain significance (Feb 12, 2024)
19-110944-G-A		not specified	Uncertain significance (Sep 16, 2021)
19-110949-C-G		not specified	Uncertain significance (Feb 03, 2022)
19-110971-A-C		not specified	Uncertain significance (May 13, 2024)
19-111025-A-G		not specified	Uncertain significance (Jun 23, 2021)
19-111079-G-A		not specified	Uncertain significance (Sep 30, 2022)
19-111084-G-A		not specified	Uncertain significance (Jan 26, 2023)
19-111096-G-A		not specified	Uncertain significance (Sep 01, 2021)
19-111124-C-T		not specified	Uncertain significance (Nov 30, 2021)
19-111142-T-C		not specified	Uncertain significance (Jun 09, 2022)
19-111214-A-G		not specified	Uncertain significance (Dec 03, 2021)
19-111216-C-T		not specified	Uncertain significance (Nov 07, 2022)
19-111267-G-T		not specified	Uncertain significance (Jun 30, 2022)
19-111315-A-G		not specified	Uncertain significance (May 24, 2024)
19-111326-G-A		not specified	Uncertain significance (Jan 23, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OR4F17	protein_coding	protein_coding	ENST00000585993	1	4226

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.376	0.488	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.793	10	20.0	0.501	9.56e-7	1945
Missense in Polyphen		4	4.5817	0.87303		738
Synonymous	-0.120	8	7.58	1.06	3.27e-7	603
Loss of Function	0.856	0	0.853	0.00	3.57e-8	67

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)

Recessive Scores

• pRec: 0.0680

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.187
• ghis: 0.463

Essentials

• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

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;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