EPS8L3

EPS8 like 3

Basic information

Region (hg38): 1:109750080-109764027

Links

ENSG00000198758 ∙ NCBI:79574 ∙ OMIM:614989 ∙ HGNC:21297 ∙ Uniprot:Q8TE67 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• Marie Unna hereditary hypotrichosis (Supportive), mode of inheritance: AD

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Hypotrichosis 5	AD	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Dermatologic	15347323; 23099647

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the EPS8L3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EPS8L3 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				2	1	3
missense			38	5	2	45
nonsense			1			1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	39	7	3

Variants in EPS8L3

This is a list of pathogenic ClinVar variants found in the EPS8L3 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-109750748-C-T		not specified	Likely benign (Apr 07, 2022)
1-109750764-C-T		EPS8L3-related disorder	Likely benign (Nov 05, 2018)
1-109750781-G-A		not specified	Uncertain significance (Jun 29, 2023)
1-109751321-C-T		EPS8L3-related disorder	Likely benign (May 01, 2024)
1-109751325-C-A		not specified	Uncertain significance (Apr 19, 2023)
1-109751343-C-T		not specified	Uncertain significance (May 17, 2023)
1-109751655-C-T		not specified	Uncertain significance (Aug 03, 2022)
1-109751774-G-A			Benign (Jan 02, 2018)
1-109752020-G-T		not specified	Uncertain significance (Feb 06, 2023)
1-109752029-C-T		not specified	Likely benign (Feb 26, 2024)
1-109752051-C-T		not specified	Uncertain significance (Feb 28, 2024)
1-109752071-A-G		not specified	Uncertain significance (Jul 11, 2023)
1-109752095-C-A		not specified	Uncertain significance (Feb 28, 2023)
1-109752103-C-T			Likely benign (Mar 01, 2023)
1-109753152-A-C			Uncertain significance (Jun 01, 2024)
1-109757054-G-T		not specified	Uncertain significance (Jun 16, 2023)
1-109757055-G-T		not specified	Uncertain significance (Oct 06, 2021)
1-109757060-T-C		not specified	Uncertain significance (Mar 14, 2023)
1-109757155-C-G		not specified	Uncertain significance (Jan 09, 2024)
1-109757496-G-T		not specified	Uncertain significance (Apr 26, 2023)
1-109757851-G-A		not specified	Uncertain significance (Jun 28, 2022)
1-109757860-A-G		not specified	Uncertain significance (Apr 04, 2023)
1-109757947-C-T		not specified	Uncertain significance (Feb 28, 2023)
1-109758046-G-A		not specified	Uncertain significance (Jun 26, 2023)
1-109758336-C-G		not specified	Uncertain significance (Nov 20, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
EPS8L3	protein_coding	protein_coding	ENST00000369805	18	13948

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
9.24e-14	0.870	125585	0	163	125748	0.000648

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0944	335	340	0.986	0.0000191	3828
Missense in Polyphen		103	110.21	0.93455		1382
Synonymous	0.00277	137	137	1.00	0.00000759	1185
Loss of Function	1.99	27	40.7	0.663	0.00000226	402

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000414	0.000413
Ashkenazi Jewish	0.000199	0.000198
East Asian	0.000545	0.000544
Finnish	0.00337	0.00338
European (Non-Finnish)	0.000517	0.000510
Middle Eastern	0.000545	0.000544
South Asian	0.0000981	0.0000980
Other	0.000816	0.000815

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0889

Intolerance Scores

• loftool: 0.946
• rvis_EVS: 0.87
• rvis_percentile_EVS: 88.85

Haploinsufficiency Scores

• pHI: 0.0795
• hipred: N
• hipred_score: 0.270

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.525

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Mouse Genome Informatics

• Gene name: Eps8l3
• Phenotype: homeostasis/metabolism phenotype; craniofacial phenotype; hematopoietic system phenotype; skeleton phenotype

Gene ontology

• Biological process: Rho protein signal transduction;regulation of Rho protein signal transduction;regulation of hair cycle;positive regulation of ruffle assembly
• Cellular component: cytoplasm;plasma membrane;ruffle membrane
• Molecular function: actin binding;protein binding;Rac guanyl-nucleotide exchange factor activity;actin filament binding