EPS8L1

protein-coding

EPS8 like 1

Gene summary

This gene encodes a protein that is related to epidermal growth factor receptor pathway substrate 8 (EPS8), a substrate for the epidermal growth factor receptor. The function of this protein is unknown. At least two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

MANE transcript

NM_133180.3

Inheritance

—

ClinVar variants

U:172B:3

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.75

Max pathogenic AF

—

Genomic locus

chr19:55,072,020-55,087,923

External References & Databases

Ensembl (ENSG00000131037)

Transcript & Mutation Effects

hg38 • Region Span ~15.9 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to EPS8L1 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 170

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_133180.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar	1 clinvar		2
missense			169 clinvar	2 clinvar		171
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	172	3	0	175

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 35 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_133180.3	RefSeq	NP_573441.2	19	MANE Select
ENST00000201647.11	Ensembl	ENSP00000201647.5	19	MANE Select
NM_017729.4	RefSeq	NP_060199.3	15	Standard
ENST00000245618.5	Ensembl	ENSP00000245618.4	15	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

Rho protein signal transduction
regulation of Rho protein signal transduction
positive regulation of ruffle assembly

Molecular Function

actin binding
Rho guanyl-nucleotide exchange factor activity
protein binding
Rac guanyl-nucleotide exchange factor activity
T cell receptor binding

Cellular Component

cytosol
plasma membrane
ruffle membrane
protein-containing complex
extracellular exosome

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000201647
Coding exons: 19
Length: 15904
Individuals with no LoFs: 125667
Homozygous LoFs: 0
Heterozygous LoFs: 81
Defined: 125748
p: 0.000322

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.0327	438	440	0.996	0.0000250	4527
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00039	0.00037	rare
Latino/Admixed American	0.00055	0.00049	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00077	0.00076	rare
Finnish	0.000095	0.000092	rare
European (Non-Finnish)	0.00021	0.00020	rare
South Asian	0.00053	0.00052	rare
Other	0.00050	0.00049	rare

dbNSFP Gene Annotations

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

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.807

Gene Damage Prediction

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