OR8K5

olfactory receptor family 8 subfamily K member 5, the group of Olfactory receptors, family 8

Basic information

Region (hg38): 11:56159394-56160317

Links

ENSG00000181752 ∙ NCBI:219453 ∙ ∙ HGNC:15315 ∙ Uniprot:Q8NH50 ∙ 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 OR8K5 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR8K5 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			29			29
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	29	0	0

Variants in OR8K5

This is a list of pathogenic ClinVar variants found in the OR8K5 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-56159419-G-A		not specified	Uncertain significance (Jun 04, 2024)
11-56159480-A-T		not specified	Uncertain significance (Mar 30, 2024)
11-56159482-G-A		not specified	Uncertain significance (Feb 01, 2025)
11-56159527-G-A		not specified	Uncertain significance (Feb 10, 2025)
11-56159538-C-T		not specified	Uncertain significance (Dec 13, 2023)
11-56159545-A-C		not specified	Uncertain significance (Jun 02, 2023)
11-56159545-A-G		not specified	Uncertain significance (Oct 27, 2022)
11-56159557-G-C		not specified	Uncertain significance (Sep 10, 2024)
11-56159560-C-A		not specified	Uncertain significance (Sep 20, 2023)
11-56159570-C-T		not specified	Uncertain significance (Dec 18, 2023)
11-56159576-C-A		not specified	Uncertain significance (Jul 15, 2024)
11-56159590-G-T		not specified	Uncertain significance (Nov 22, 2023)
11-56159666-A-C		not specified	Uncertain significance (Jul 09, 2021)
11-56159771-G-A		not specified	Uncertain significance (Oct 02, 2023)
11-56159783-A-G		not specified	Uncertain significance (Sep 29, 2023)
11-56159787-A-C		not specified	Uncertain significance (Jul 31, 2023)
11-56159797-A-G		not specified	Uncertain significance (Apr 04, 2024)
11-56159816-A-G		not specified	Uncertain significance (Mar 14, 2023)
11-56159879-T-C		not specified	Uncertain significance (Mar 25, 2024)
11-56159885-C-G		not specified	Uncertain significance (Jul 02, 2024)
11-56159902-C-T		not specified	Uncertain significance (Mar 17, 2023)
11-56159923-T-C		not specified	Uncertain significance (Jul 13, 2021)
11-56159951-A-G		not specified	Uncertain significance (Mar 07, 2024)
11-56159954-G-A		not specified	Uncertain significance (Jul 13, 2022)
11-56159983-A-G		not specified	Uncertain significance (Jan 18, 2025)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OR8K5	protein_coding	protein_coding	ENST00000313447	1	924

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000111	0.110	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.06	200	162	1.23	0.00000751	2025
Missense in Polyphen		45	49.219	0.91429		696
Synonymous	-0.329	64	60.7	1.05	0.00000279	615
Loss of Function	-0.733	8	6.05	1.32	4.03e-7	77

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)

Intolerance Scores

• loftool: 0.824
• rvis_EVS: 1
• rvis_percentile_EVS: 90.62

Haploinsufficiency Scores

• pHI: 0.161
• hipred: N
• hipred_score: 0.146

Essentials

• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.212

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Olfr1053

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