EWSR1/ETV4 Fusion Gene

Preferred Label : EWSR1/ETV4 Fusion Gene;

NCIt synonyms : EWS Protein/E1A Enhancer Binding Protein Chimera Gene; EWS-E1AF Fusion Gene; ETV4/EWS Fusion Gene; EWS/ETV4 Fusion Gene; EWSR1-ETV4 Fusion Gene; ETV4/EWSR1 Fusion Gene; EWSR1::ETV4 Fusion Gene;

NCIt related terms : EWSR1-ETV4;

NCIt definition : A fusion gene ( 2.1 kb) that results from a chromosomal translocation t(17;22)(q21;q12) which fuses the first seven exons of the EWSR1 gene to the last 6 exons of the ETV4 gene. This rearrangement is associated with Ewing sarcoma.;

GenBank Accession Number : U35622;

Détails

Origin ID

C99262;

UMLS CUI

C3274643;

Automatic exact mappings (from CISMeF team)
- Ets variant transcription factor 4 [OMIM gene]
- Ews rna-binding protein 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- EWS Authorized Value Terminology [NCIt concept]
- EWS Molecular Analysis Table [NCIt concept]
gene_encodes_gene_product
- EWSR1/ETV4 Fusion Protein [NCIt concept]
gene_has_abnormality
- ETS Family Gene Rearrangement [NCIt concept]
- FET Family Gene Translocation [NCIt concept]
- t(17;22)(q21;q12) [NCIt concept]
gene_involved_in_molecular_abnormality
- EWSR1-ETV4 Fusion Protein Expression [NCIt concept]
- t(17;22)(q21;q12) [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor [NCIt concept]
gene_mapped_to_disease
- Adamantinoma-Like Ewing Sarcoma [NCIt concept]
- Askin Tumor [NCIt concept]
- Atypical Ewing Sarcoma [NCIt concept]
- Central Nervous System Ewing Sarcoma [NCIt concept]
- Central Nervous System Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor [NCIt concept]
- Childhood Ewing Sarcoma [NCIt concept]
- Childhood Kidney Ewing Sarcoma [NCIt concept]
- Ewing Sarcoma [NCIt concept]
- Ewing Sarcoma of Bone [NCIt concept]
- Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor [NCIt concept]
- Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor of Bone [NCIt concept]
- Extraskeletal Ewing Sarcoma [NCIt concept]
- Extraskeletal Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor [NCIt concept]
- Head and Neck Adamantinoma-Like Ewing Sarcoma [NCIt concept]
- Head and Neck Ewing Sarcoma [NCIt concept]
- Kidney Ewing Sarcoma [NCIt concept]
- Localized Askin Tumor [NCIt concept]
- Localized Bone Ewing Sarcoma [NCIt concept]
- Localized Ewing Sarcoma [NCIt concept]
- Localized Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor [NCIt concept]
- Localized Extraskeletal Ewing Sarcoma [NCIt concept]
- Localized Peripheral Primitive Neuroectodermal Tumor [NCIt concept]
- Localized Peripheral Primitive Neuroectodermal Tumor of Bone [NCIt concept]
- Locally Advanced Ewing Sarcoma [NCIt concept]
- Lung Ewing Sarcoma [NCIt concept]
- Major Salivary Gland Adamantinoma-Like Ewing Sarcoma [NCIt concept]
- Metastatic Bone Ewing Sarcoma [NCIt concept]
- Metastatic Ewing Sarcoma [NCIt concept]
- Metastatic Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor [NCIt concept]
- Metastatic Extraskeletal Ewing Sarcoma [NCIt concept]
- Metastatic Peripheral Primitive Neuroectodermal Tumor of Bone [NCIt concept]
- Pancreatic Adamantinoma-Like Ewing Sarcoma [NCIt concept]
- Parotid Gland Adamantinoma-Like Ewing Sarcoma [NCIt concept]
- Peripheral Primitive Neuroectodermal Tumor [NCIt concept]
- Peripheral Primitive Neuroectodermal Tumor of Bone [NCIt concept]
- Peripheral Primitive Neuroectodermal Tumor of Kidney [NCIt concept]
- Peripheral Primitive Neuroectodermal Tumor of Soft Tissues [NCIt concept]
- Recurrent Askin Tumor [NCIt concept]
- Recurrent Bone Ewing Sarcoma [NCIt concept]
- Recurrent Ewing Sarcoma [NCIt concept]
- Recurrent Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor [NCIt concept]
- Recurrent Extraskeletal Ewing Sarcoma [NCIt concept]
- Recurrent Peripheral Primitive Neuroectodermal Tumor [NCIt concept]
- Recurrent Peripheral Primitive Neuroectodermal Tumor of Bone [NCIt concept]
- Refractory Ewing Sarcoma [NCIt concept]
- Refractory Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor [NCIt concept]
- Refractory Peripheral Primitive Neuroectodermal Tumor [NCIt concept]
- Sinonasal Ewing Sarcoma [NCIt concept]
- Skin Ewing Sarcoma [NCIt concept]
- Unresectable Ewing Sarcoma [NCIt concept]
- Vulvar Ewing Sarcoma [NCIt concept]
related_to_genetic_biomarker
- ETV4 Gene [NCIt concept]
- EWSR1 Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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