• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
EPS8 (HGNC:3420) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
epidermal growth factor receptor pathway substrate 8
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
No aliases found
%HI
19.96(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.97(Read more about gnomAD pLI score)
LOEUF
0.31(Read more about gnomAD LOEUF score)
Cytoband
12p12.3
Genomic Coordinates
GRCh37/hg19: chr12:15773068-15942322 NCBI Ensembl UCSC
GRCh38/hg38: chr12:15620134-15789388 NCBI Ensembl UCSC
MANE Select Transcript
NM_004447.6 ENST00000281172.10 (Read more about MANE Select)
Function
Signaling adapter that controls various cellular protrusions by regulating actin cytoskeleton dynamics and architecture. Depending on its association with other signal transducers, can regulate different processes. Together with SOS1 and ABI1, forms a trimeric complex that participates in transduction of signals from Ras to Rac by activating the Rac-specific guanine nucleotide exchange factor (GEF) activity. Acts as a direct regulator of actin dynamics by binding actin filaments and has both bar... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-26171
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
02/07/2018

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • Deafness, Autosomal recessive 102 Monarch
HI Evidence:
  • PUBMED: 24741995
    Behlouli et al. 2014 studied a consanguineous Algerian family with 2 affecteds having congenital sensorineural hearing loss. GJB2, OTOF and MYO15A were excluded as the cause of hearing loss. Whole exome sequencing was performed and revealed a homozygous nonsense c.88C>T, p.Gln30X variant in the EPS8 gene. The variant was not present in 120 Algerian controls. Evidence for pathogenicity of this variant came from Manor et al. 2011 and Zambini et al. 2011 mice models.
  • PUBMED: 27344577
    Yan et al. 2016 studied 342 GJB2 variant-negative families and found a family of Tunisian decent with prelingual hearing loss and a homozygous c.115delA p.Thr39GlnfsX32 variant in EPS8.
HI Evidence Comments:
Only two variants, both loss of function and both homozygous, have been reported in the EPS8 gene (Yan et al. 2016, Behlouli et al. 2014). The overall evidence that EPS8, when altered, causes autosomal recessive nonsyndromic hearing loss has been Expert reviewed as Moderate by the ClinGen Hearing Loss Gene Curation Working Group. Based on the lack of autosomal dominant loss of function variants reported in this gene, it receives a haploinsufficiency score of 30: Gene associated with autosomal recessive phenotype.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000012.11) (NC_000012.12)