Terminology Service for NFDI4Health
EWSR1 Gene
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http://purl.obolibrary.org/obo/NCIT_C18322
This gene may play a role in post-transcriptional regulation; however the function remains to be elucidated. Mutations in the gene result in Ewing sarcoma and other tumors. [ ]
Term info
Label
EWSR1 Gene
Synonyms
- EWS RNA-Binding Protein 1 Gene
- EWSR1
- EWSR1 Gene
- Ewing Sarcoma Breakpoint Region 1 Gene
Subsets
NCIT_C116977, NCIT_C142801, NCIT_C142800, NCIT_C142799
Contributing Source
CTRP
Display Name
EWSR1 Gene
HGNC ID
HGNC:3508
Legacy Concept Name
EWSR1_Gene
Maps To
EWSR1
OMIM Number
133450
Preferred Name
EWSR1 Gene
Semantic Type
Gene or Genome
UMLS CUI
C0808901
code
C18322
Term relations
Subclass of:
- Ligand Binding Protein Gene
- Gene_Plays_Role_In_Process some Gene Regulation Process
- Gene_Plays_Role_In_Process some RNA Transport
- Gene_Plays_Role_In_Process some RNA-Protein Interaction
- Gene_Involved_In_Pathogenesis_Of_Disease some Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
Related from:
Molecular_Abnormality_Involves_Gene
- EWSR1-DDIT3 Fusion Protein Expression
- t(11;22)(q24;q12)
- EWSR1-CREB1 Fusion Protein Expression
- t(11;22)(p13;q12)
- t(17;22)(q21;q12)
- t(21;22)(q22;q12)
- t(12;22)(p13;q11)
- EWSR1-PATZ1 Fusion Protein Expression
- EWSR1-FEV Fusion Protein Expression
- t(2;22)(q33;q12)
- EWSR1-ERG Fusion Protein Expression
- EWSR1-ETV1 Fusion Protein Expression
- EWSR1-NR4A3 Fusion Protein Expression
- EWSR1-ETV4 Fusion Protein Expression
- EWSR1-ATF1 Fusion Protein Expression
- EWSR1-WT1 Fusion Protein Expression
- EWSR1-FLI1 Fusion Protein Expression
- EWSR1 Gene Translocation