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Symbol EWSR1 contributors: mct - updated : 14-12-2013
HGNC name Ewing sarcoma breakpoint region 1
HGNC id 3508
corresponding disease(s) EWS , DSRCT
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral fusion translocation    
t(7;22)(p22;q12) ; see ETV1
tumoral fusion translocation    
t(21;22)(q22;q12) ; see ERG
tumoral fusion translocation    
t(12;22)(q13;q12) with malignant melanomas of soft tissues (MMST) ; see ATF1
tumoral fusion translocation    
t(11;22)(p13;q12) with desmoplastic small round cell tumor ; see DSRCT
tumoral fusion translocation    
t(9;22) (q22-q31;q12) with extraskeletal myxoid chondrosarcoma (EMC) ; see TEC
tumoral fusion translocation    
t(17;22) (q12;q12) with undifferentiated sarcoma in infancy ; see E1AF
tumoral fusion      
with DDIT3 in t(12;22), in myxoid liposarcoma
tumoral fusion      
with CREB1 in t(2;22)(q33;q12) in angiomatoid fibrous histiocytoma
tumoral fusion      
with PBX1 in (1;22)(q23;q12) in myoepithelioma
tumoral fusion      
with FLI1, t(11;22)(q24;q12) in Ewing sarcoma, cancer-specific molecule that binds to RHA essential for the function of EWS-FLI1
tumoral fusion      
wirh POU5F1 in t(6;22)(p21;q12) associated with bone and soft-tissue tumours resulting in a chimaeric molecule fusing the NTD (N-terminal domain) of the EWSR1 to the CTD (C-terminal domain) of POU5F1 embryonic gene
tumoral fusion      
t(19;22)(q13;q12) leading to the novel fusion gene EWSR1-ZNF444 in soft tissue myoepithelial carcinoma
tumoral     --over  
in liposarcoma
tumoral fusion      
with ATF1 is a novel and consistent finding in hyalinizing clear-cell carcinoma of salivary gland
tumoral fusion      
with CREB3L1, in small cell osteosarcoma
tumoral fusion      
with YY1 genes in mesothelioma with t(14;22)(q32;q12)
Susceptibility to amyotrophic lateral sclerosis (ALS)
Variant & Polymorphism other
  • three missense variants in EWSR1 in ALS patients, which were absent in a large number of healthy control individuals (pMID: 22454397)
  • Candidate gene
    Therapy target
    small molecules that disable EWS-FLI1 function with minimal toxicity, in particular sparing hematopoetic stem cells, could potentially provide a valuable adjuvant therapy for patients with Ewing sarcoma family tumors