EWSR1 Gene - CISMeF

Preferred Label : EWSR1 Gene;

NCIt synonyms : Ewing Sarcoma Breakpoint Region 1 Gene; EWS RNA-Binding Protein 1 Gene;

NCIt related terms : EWSR1;

CISMeF acronym : EWSR1;

NCIt definition : 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.;

Détails

Origin ID

C18322;

UMLS CUI

C0808901;

Automatic exact mappings (from CISMeF team)
- EWS RNA binding protein 1 [ORDO Gene]
- EWSR1 gene [LOINC component]
- Ews rna-binding protein 1 [OMIM gene]
HGNC gene
- EWS RNA binding protein 1 [HGNC gene]
OMIM relation
- Ews rna-binding protein 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- EWS RNA binding protein 1 [HGNC gene]
- EWSR1 gene [LOINC component]
- Ews rna-binding protein 1 [OMIM gene]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Reference Gene Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]
gene_encodes_gene_product
- RNA-Binding Protein EWS [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_involved_in_molecular_abnormality
- EWSR1 Gene Rearrangement [NCIt concept]
- EWSR1 Gene Translocation [NCIt concept]
- EWSR1-ATF1 Fusion Protein Expression [NCIt concept]
- EWSR1-CREB1 Fusion Protein Expression [NCIt concept]
- EWSR1-DDIT3 Fusion Protein Expression [NCIt concept]
- EWSR1-ERG Fusion Protein Expression [NCIt concept]
- EWSR1-ETV1 Fusion Protein Expression [NCIt concept]
- EWSR1-ETV4 Fusion Protein Expression [NCIt concept]
- EWSR1-FEV Fusion Protein Expression [NCIt concept]
- EWSR1-FLI1 Fusion Protein Expression [NCIt concept]
- EWSR1-NFATC2 Fusion Protein Expression [NCIt concept]
- EWSR1-NR4A3 Fusion Protein Expression [NCIt concept]
- EWSR1-PATZ1 Fusion Protein Expression [NCIt concept]
- EWSR1-WT1 Fusion Protein Expression [NCIt concept]
- t(11;22)(p13;q12) [NCIt concept]
- t(11;22)(q24;q12) [NCIt concept]
- t(12;22)(q13.12;q12) [NCIt concept]
- t(12;22)(q13.3;q12) [NCIt concept]
- t(12;22)(q13;q12) [NCIt concept]
- t(12;22;20)(q13;q12;q11) [NCIt concept]
- t(17;22)(q21;q12) [NCIt concept]
- t(19;22)(q13;q12) [NCIt concept]
- t(1;22)(p34;q12) [NCIt concept]
- t(1;22)(p36.1;q12) [NCIt concept]
- t(1;22)(q23;q12) [NCIt concept]
- t(21;22)(q22;q12) [NCIt concept]
- t(2;22)(q33;q12) [NCIt concept]
- t(2;22)(q34;q12) [NCIt concept]
- t(6;22)(p21;q12) [NCIt concept]
- t(9;22)(q22;q12) [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor [NCIt concept]
- Gastrointestinal Clear Cell Sarcoma/Malignant Gastrointestinal 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]
- Gastrointestinal Clear Cell Sarcoma/Malignant Gastrointestinal 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]
gene_plays_role_in_process
- Gene Regulation Process [NCIt concept]
- Ligand Binding [NCIt concept]
- RNA Binding [NCIt concept]
- RNA Transport [NCIt concept]
- RNA-Protein Interaction [NCIt concept]
genetic_biomarker_related_to
- EWSR1 Fusion Positive [NCIt concept]
- EWSR1 Gene Rearrangements in Tissue by FISH [NCIt concept]
- EWSR1/ATF1 Fusion Gene [NCIt concept]
- EWSR1/ATF1 Fusion Gene Type 1 [NCIt concept]
- EWSR1/ATF1 Fusion Gene Type 2 [NCIt concept]
- EWSR1/ATF1 Fusion Protein [NCIt concept]
- EWSR1/ATF1 Fusion Protein Type 1 [NCIt concept]
- EWSR1/ATF1 Fusion Protein Type 2 [NCIt concept]
- EWSR1/CREB1 Fusion Gene [NCIt concept]
- EWSR1/CREB1 Fusion Protein [NCIt concept]
- EWSR1/DDIT3 Fusion Gene [NCIt concept]
- EWSR1/DDIT3 Fusion Protein [NCIt concept]
- EWSR1/ERG Fusion Gene [NCIt concept]
- EWSR1/ERG Fusion Protein [NCIt concept]
- EWSR1/ETV1 Fusion Gene [NCIt concept]
- EWSR1/ETV1 Fusion Protein [NCIt concept]
- EWSR1/ETV4 Fusion Gene [NCIt concept]
- EWSR1/ETV4 Fusion Protein [NCIt concept]
- EWSR1/FEV Fusion Gene [NCIt concept]
- EWSR1/FEV Fusion Protein [NCIt concept]
- EWSR1/FLI1 Fusion Gene [NCIt concept]
- EWSR1/FLI1 Fusion Gene Type 1 [NCIt concept]
- EWSR1/FLI1 Fusion Gene Type 2 [NCIt concept]
- EWSR1/FLI1 Fusion Protein [NCIt concept]
- EWSR1/FLI1 Fusion Protein Type 1 [NCIt concept]
- EWSR1/FLI1 Fusion Protein Type 2 [NCIt concept]
- EWSR1/KLF17 Fusion Gene [NCIt concept]
- EWSR1/NFATC2 Fusion Gene [NCIt concept]
- EWSR1/NFATC2 Fusion Protein [NCIt concept]
- EWSR1/NR4A3 Fusion Gene [NCIt concept]
- EWSR1/NR4A3 Fusion Protein [NCIt concept]
- EWSR1/PATZ1 Fusion Gene [NCIt concept]
- EWSR1/PATZ1 Fusion Gene Long A Isoform [NCIt concept]
- EWSR1/PATZ1 Fusion Gene Long B Isoform [NCIt concept]
- EWSR1/PATZ1 Fusion Gene Short Isoform [NCIt concept]
- EWSR1/PATZ1 Fusion Protein [NCIt concept]
- EWSR1/PATZ1 Fusion Protein Long A Isoform [NCIt concept]
- EWSR1/PATZ1 Fusion Protein Long B Isoform [NCIt concept]
- EWSR1/PATZ1 Fusion Protein Short Isoform [NCIt concept]
- EWSR1/PBX1 Fusion Gene [NCIt concept]
- EWSR1/PBX1 Fusion Protein [NCIt concept]
- EWSR1/PBX3 Fusion Gene [NCIt concept]
- EWSR1/POU5F1 Fusion Gene [NCIt concept]
- EWSR1/POU5F1 Fusion Protein [NCIt concept]
- EWSR1/SMAD3 Fusion Gene [NCIt concept]
- EWSR1/SMAD3 Fusion Protein [NCIt concept]
- EWSR1/SMARCA5 Fusion Gene [NCIt concept]
- EWSR1/SMARCA5 Fusion Protein [NCIt concept]
- EWSR1/SP3 Fusion Gene [NCIt concept]
- EWSR1/SP3 Fusion Protein [NCIt concept]
- EWSR1/TFCP2 Fusion Gene [NCIt concept]
- EWSR1/WT1 Fusion Gene [NCIt concept]
- EWSR1/WT1 Fusion Positive [NCIt concept]
- EWSR1/WT1 Fusion Protein [NCIt concept]
- EWSR1/ZNF444 Fusion Gene [NCIt concept]
- EWSR1/ZNF444 Fusion Protein [NCIt concept]
- FET Family Gene Translocation [NCIt concept]
- UQCRH/EWSR1 Fusion Gene [NCIt concept]

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

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