UBTF Exon 13 Tandem Duplication

Preferred Label : UBTF Exon 13 Tandem Duplication;

NCIt synonyms : Upstream Binding Transcription Factor Exon 13 Tandem Duplication; UBF2 Exon 13 Tandem Duplication; UBF Exon 13 Tandem Duplication; UBF1 Exon 13 Tandem Duplication; NOR-90 Exon 13 Tandem Duplication; UBTF Exon 13 Tandem Duplication Mutation; UBTF Exon 13 Internal Tandem Duplication; UBTF Exon 13 TD; UBTF Exon 13 ITD;

NCIt definition : A molecular abnormality characterized by tandem duplications within the UBTF gene including, but not limited to, sequences within exon 13. These rearrangements encode duplications of leucine-rich sequences of the high mobility group domain 4 of the nucleolar transcription factor 1 protein, which may promote cellular transformation and is associated with pediatric acute myeloid leukemia.;

NCI Metathesaurus CUI : CL1778760;

PubMed : 35176137; 37085611;

Details

Origin ID

C186608;

UMLS CUI

C5670658;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
cytogenetic_abnormality_involves_chromosome
- Human Chromosome 17 [NCIt concept]
molecular_abnormality_involves_gene
- UBTF Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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