LP265717-1
SF3B1 gene
Active
Descriptions
The SF3B1 gene (splicing factor 3b subunit 1) [HGNC Gene ID:10768] is located on chromosome 2q33.1. This gene encodes subunit 1 of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-mRNA upstream of the intron's branch site in a sequence independent manner and may anchor the U2 snRNP to the pre-mRNA. Splicing factor 3b is also a component of the minor U12-type spliceosome. The carboxy-terminal two-thirds of subunit 1 have 22 non-identical, tandem HEAT repeats that form rod-like, helical structures. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] [NCBI Gene ID:23451] Source: National Center for Biotechnology Information (NCBI) Gene
Next-generation sequencing (NSG) studies have identified mutations in SF3B1 in chronic lymphocytic leukemia (CLL). In CLL, SF3B1 mutation is associated with more aggressive disease, survival, and incorporated into prognostic schema to improve the prediction of disease progression. Mutations in SF3B1 are predominantly subclonal genetic events in CLL, and hence are likely later events in the progression of CLL. PMID: 23568491 Source: LOINC
Basic Part Properties
- Part Name
- SF3B1 gene
- Part Display Name
- SF3B1 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2018-01-05
- Construct for LOINC Short Name
- SF3B1 gene
LOINC Terminology Service (API) using HL7® FHIR® Get Info
Requests to this service require a free LOINC username and password. Below is a sample of the possible capabilities. See the LOINC Terminology Service documentation for more information.
- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=LP265717-1
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | SF3B1 基因 |
| it-IT | Italian (Italy) | SF3B1, gene Synonyms: Gene SF3B1 |
| nl-NL | Dutch (Netherlands) | SF3B1-gen |
| es-ES | Spanish (Spain) | Gen SF3B1 |
| el-GR | Greek (Greece) | Γονίδιο SF3B1 Synonyms: Γονίδιο SF3B1 |
LOINC Copyright
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