SF3B1 wt Allele

Preferred Label : SF3B1 wt Allele;

NCIt synonyms : PRPF10; SAP155; Pre-mRNA Processing 10 Gene; SF3b155; Spliceosome-Associated Protein, 155-kD Gene; Hsh155; PRP10; Splicing Factor 3b, Subunit 1 Gene; SF3B, 155-kD Subunit Gene; MDS; Splicing Factor 3b Subunit 1 wt Allele; Splicing Factor 3b, Subunit 1, 155kDa Gene;

NCIt definition : Human SF3B1 wild-type allele is located in the vicinity of 2q33.1 and is approximately 43 kb in length. This allele, which encodes splicing factor 3B subunit 1 protein, plays a role in the regulation of mRNA processing.;

GenBank Accession Number : AF054284;

Details

Origin ID

C98285;

UMLS CUI

C3273937;

OMIM relation
- Splicing factor 3b, subunit 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
- 2q33.1 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Acute Myeloid Leukemia with SF3B1 Mutation [NCIt concept]
- Myelodysplastic Syndrome with Mutated SF3B1 [NCIt concept]
- Myelodysplastic/Myeloproliferative Neoplasm with SF3B1 Mutation and Thrombocytosis [NCIt concept]
gene_is_element_in_pathway
- Spliceosome Pathway [NCIt concept]
gene_plays_role_in_process
- RNA Splicing [NCIt concept]

Keyword's position in hierarchy(ies) :

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