U2AF1 wt Allele

Preferred Label : U2AF1 wt Allele;

NCIt synonyms : U2AF35; FP793; RNU2AF1; DKFZp313J1712; RN; U2 Small Nuclear RNA Auxiliary Factor 1 wt Allele; U2AFBP;

NCIt definition : Human U2AF1 wild-type allele is located in the vicinity of 21q22.3 and is approximately 15 kb in length. This allele, which encodes splicing factor U2AF 35 kDa subunit protein, plays a role in the mediation of messenger RNA processing. A missense mutation may be associated with myelodysplastic syndrome.;

GenBank Accession Number : BC001177;

PubMed : 22158538;

Details

Origin ID

C101114;

UMLS CUI

C3540639;

OMIM relation
- U2 small nuclear rna auxiliary factor 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_in_chromosomal_location
- 21q22.3 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Acute Myeloid Leukemia with U2AF1 Mutation [NCIt concept]
gene_is_element_in_pathway
- Shigellosis Pathway [NCIt concept]
- Spliceosome Assembly Pathway [NCIt concept]
- Spliceosome Pathway [NCIt concept]
gene_plays_role_in_process
- Intracellular Transport [NCIt concept]
- Ligand Binding [NCIt concept]
- RNA Binding [NCIt concept]
- RNA Splicing [NCIt concept]
- Transcription Termination [NCIt concept]
- Transport Process [NCIt concept]
- mRNA Export [NCIt concept]

Keyword's position in hierarchy(ies) :

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