EWSR1 wt Allele

Preferred Label : EWSR1 wt Allele;

NCIt synonyms : AC002059.7; EWS; EWS RNA-Binding Protein 1 wt Allele; bK984G1.4; Ewing Sarcoma Breakpoint Region 1 Gene;

NCIt definition : Human EWSR1 wild-type allele is located in the vicinity of 22q12.2 and is approximately 32 kb in length. This allele, which encodes RNA-binding protein EWS, may play a role in transcriptional repression or post-translational modification. An exact function has not been elucidated; however, mutations of the gene are known to cause Ewing sarcoma as well as neuroectodermal and various other tumors. The most common aberration that has been identified is a t(11;22)(q24;q12) translocation.;

GenBank Accession Number : X66899;

Details

Origin ID

C51239;

UMLS CUI

C1704722;

OMIM relation
- 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]
gene_found_in_organism
- Human [NCIt concept]
gene_has_physical_location
- 22: 27988825-28021059 [NCIt concept]
gene_in_chromosomal_location
- 22q12.2 [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_is_element_in_pathway
- BARD1 Signaling Pathway [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]

Keyword's position in hierarchy(ies) :

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