OXER1

oxoeicosanoid receptor 1, the group of Leukotriene receptors

Basic information

Region (hg38): 2:42762499-42764135

Links

ENSG00000162881 ∙ NCBI:165140 ∙ OMIM:620064 ∙ HGNC:24884 ∙ Uniprot:Q8TDS5 ∙ 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 OXER1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OXER1 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			42	5	1	48
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			3			3
Total	0	0	45	5	2

Variants in OXER1

This is a list of pathogenic ClinVar variants found in the OXER1 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-42762978-G-A		not specified	Likely benign (Mar 06, 2023)
2-42762993-T-G		not specified	Uncertain significance (Feb 22, 2023)
2-42763002-C-T		not specified	Uncertain significance (Oct 03, 2022)
2-42763003-G-A		not specified	Uncertain significance (Dec 02, 2021)
2-42763033-C-T		not specified	Uncertain significance (May 17, 2023)
2-42763036-C-T		not specified	Uncertain significance (Jun 24, 2022)
2-42763053-C-T		not specified	Uncertain significance (Jan 04, 2024)
2-42763054-G-A		not specified	Likely benign (Feb 22, 2024)
2-42763060-G-A		not specified	Uncertain significance (Jan 26, 2022)
2-42763062-G-A		not specified	Uncertain significance (Mar 06, 2023)
2-42763062-G-T		not specified	Uncertain significance (Jul 12, 2023)
2-42763077-G-A			Benign (Aug 08, 2017)
2-42763085-C-G			Likely benign (Aug 01, 2024)
2-42763093-G-T		not specified	Uncertain significance (Sep 01, 2021)
2-42763098-T-C		not specified	Likely benign (Jun 13, 2022)
2-42763180-T-G			Likely benign (Jul 05, 2018)
2-42763183-A-G		not specified	Uncertain significance (Mar 29, 2022)
2-42763234-T-C		not specified	Uncertain significance (Mar 16, 2022)
2-42763238-A-G			Benign (Aug 15, 2017)
2-42763248-C-A		not specified	Uncertain significance (May 28, 2024)
2-42763314-C-T		not specified	Uncertain significance (Dec 14, 2023)
2-42763324-C-T		not specified	Uncertain significance (Dec 13, 2021)
2-42763335-C-T		not specified	Uncertain significance (May 14, 2024)
2-42763429-G-A		not specified	Uncertain significance (Oct 06, 2021)
2-42763434-G-A		not specified	Uncertain significance (Sep 27, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OXER1	protein_coding	protein_coding	ENST00000378661	1	1760

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
7.32e-8	0.0231	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.596	289	262	1.10	0.0000163	2658
Missense in Polyphen		92	78.927	1.1656		919
Synonymous	-1.01	132	118	1.12	0.00000719	982
Loss of Function	-2.71	8	2.97	2.70	1.27e-7	34

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: Receptor for eicosanoids and polyunsaturated fatty acids such as 5-oxo-6E,8Z,11Z,14Z-eicosatetraenoic acid (5-OXO-ETE), 5(S)-hydroperoxy-6E,8Z,11Z,14Z-eicosatetraenoic acid (5(S)-HPETE) and arachidonic acid. Seems to be coupled to the G(i)/G(o), families of heteromeric G proteins. {ECO:0000269|PubMed:12065583, ECO:0000269|PubMed:12606753}.
• Pathway: Signaling by GPCR;Signal Transduction;Eicosanoid ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;G alpha (i) signalling events;GPCR downstream signalling (Consensus)

Intolerance Scores

• loftool: 0.730
• rvis_EVS: 1
• rvis_percentile_EVS: 90.77

Haploinsufficiency Scores

• pHI: 0.134
• hipred: N
• hipred_score: 0.146
• ghis: 0.484

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.171

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;adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway
• Cellular component: plasma membrane;integral component of membrane
• Molecular function: G protein-coupled receptor activity;5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding;5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding;5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding