EPS8L1

EPS8 like 1

Basic information

Region (hg38): 19:55072020-55087923

Links

ENSG00000131037 ∙ NCBI:54869 ∙ OMIM:614987 ∙ HGNC:21295 ∙ Uniprot:Q8TE68 ∙ 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 EPS8L1 gene.

• not_specified (158 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EPS8L1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000133180.3. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			156	1		157
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	156	2	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
EPS8L1	protein_coding	protein_coding	ENST00000201647	19	15904

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.01e-15	0.342	125667	0	81	125748	0.000322

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0327	438	440	0.996	0.0000250	4527
Missense in Polyphen		138	139.4	0.98998		1521
Synonymous	-0.531	210	200	1.05	0.0000121	1522
Loss of Function	1.42	28	37.4	0.749	0.00000179	411

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000936	0.000915
Ashkenazi Jewish	0.00	0.00
East Asian	0.000770	0.000761
Finnish	0.0000950	0.0000924
European (Non-Finnish)	0.000211	0.000202
Middle Eastern	0.000770	0.000761
South Asian	0.000533	0.000523
Other	0.000503	0.000489

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Stimulates guanine exchange activity of SOS1. May play a role in membrane ruffling and remodeling of the actin cytoskeleton. {ECO:0000269|PubMed:14565974}.

Recessive Scores

• pRec: 0.107

Intolerance Scores

• loftool: 0.915
• rvis_EVS: 0.0000761
• rvis_percentile_EVS: 53.98

Haploinsufficiency Scores

• pHI: 0.144
• hipred: N
• hipred_score: 0.279
• ghis: 0.488

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.807

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Eps8l1
• Phenotype: hearing/vestibular/ear phenotype

Gene ontology

• Biological process: Rho protein signal transduction;regulation of Rho protein signal transduction;positive regulation of ruffle assembly
• Cellular component: cytosol;plasma membrane;ruffle membrane;protein-containing complex;extracellular exosome
• Molecular function: actin binding;Rho guanyl-nucleotide exchange factor activity;protein binding;Rac guanyl-nucleotide exchange factor activity;T cell receptor binding;cadherin binding