EPHX4

epoxide hydrolase 4, the group of Abhydrolase domain containing

Basic information

Region (hg38): 1:92029985-92063538

Previous symbols: [ "ABHD7" ]

Links

ENSG00000172031 ∙ NCBI:253152 ∙ OMIM:617401 ∙ HGNC:23758 ∙ Uniprot:Q8IUS5 ∙ 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 EPHX4 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EPHX4 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			14			14
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	14	0	0

Variants in EPHX4

This is a list of pathogenic ClinVar variants found in the EPHX4 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-92030095-G-T		not specified	Uncertain significance (Feb 01, 2023)
1-92030167-C-T		not specified	Uncertain significance (May 24, 2023)
1-92030225-A-G		not specified	Uncertain significance (Jun 11, 2024)
1-92030248-G-A		not specified	Uncertain significance (May 20, 2024)
1-92030266-C-G		not specified	Uncertain significance (Jan 31, 2024)
1-92030278-T-A		not specified	Uncertain significance (Nov 07, 2022)
1-92042896-G-A		not specified	Uncertain significance (Jan 04, 2024)
1-92042933-A-C		not specified	Uncertain significance (Mar 03, 2022)
1-92042960-A-G		not specified	Uncertain significance (Dec 19, 2022)
1-92045555-G-T		not specified	Uncertain significance (Sep 22, 2023)
1-92045565-G-C		not specified	Uncertain significance (Feb 16, 2023)
1-92045606-G-A		not specified	Uncertain significance (May 07, 2024)
1-92050337-G-A		not specified	Uncertain significance (Feb 06, 2023)
1-92050359-A-G		not specified	Uncertain significance (Jun 07, 2023)
1-92052627-G-A		not specified	Uncertain significance (Dec 05, 2022)
1-92052637-A-G		not specified	Uncertain significance (Mar 20, 2023)
1-92063119-G-A		not specified	Uncertain significance (Jan 23, 2024)
1-92063277-A-T		not specified	Uncertain significance (Apr 23, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
EPHX4	protein_coding	protein_coding	ENST00000370383	7	33555

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000129	0.958	125719	0	29	125748	0.000115

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.06	146	187	0.782	0.00000854	2360
Missense in Polyphen		42	63.729	0.65904		826
Synonymous	1.20	55	67.5	0.814	0.00000305	684
Loss of Function	1.88	11	20.1	0.548	0.00000116	225

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000203	0.000203
Ashkenazi Jewish	0.00	0.00
East Asian	0.000165	0.000163
Finnish	0.00	0.00
European (Non-Finnish)	0.000143	0.000141
Middle Eastern	0.000165	0.000163
South Asian	0.000102	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.103

Intolerance Scores

• loftool: 0.738
• rvis_EVS: -0.49
• rvis_percentile_EVS: 22.09

Haploinsufficiency Scores

• pHI: 0.164
• hipred: Y
• hipred_score: 0.544
• ghis: 0.613

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0137

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ephx4

Gene ontology

• Cellular component: integral component of membrane
• Molecular function: hydrolase activity