Omics · study · 2026
Effect of SRSF2-P95H mutation on mRNA splicing in primary human hematopoietic stem cells (HSPCs).
Listed in NCBI GEO
SRSF2 is a component of the splicing machinery that binds to exonic splicing enhancers (ESE), thus playing an important role in regulation of exon inclusion and exon skipping events during splicing.
Description
Mutations in SRSF2 change the binding affinity to specific ESE sequences and thereby lead to missplicing of pre-mRNAs from a plethora of genes. Mutations in SRSF2 occur in several myeloid hematologic malignancies of stem cell origin (CMML, AML) and also in individuals with clonal hematopoiesis.
To prospectively analyze splicing alterations induced by SRSF2 mutations, we introduced heterozygous SRSF2-P95H mutations in primary CD34+ HSPCs using CRISPR/Cas9 and rAAV6-mediated knock-in and subjected these cells to bulk RNA sequencing.
Links
Get the data
- GEO FTP directory ftp.ncbi.nlm.nih.gov/geo/series/GSE304nnn/GSE304636 ↗
download · from NCBI GEO
Where it is published
- GEO accession page ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE304636 ↗
landing page · from NCBI GEO
Documentation and papers
- PRJNA1301961 ncbi.nlm.nih.gov/bioproject/PRJNA1301961 ↗
project · from NCBI GEO
- PubMed 42736327 pubmed.ncbi.nlm.nih.gov/42736327 ↗
publication · from NCBI GEO
Topics
- Stated by source
- Expression profiling by high throughput sequencing · Homo sapiens
- From keywords
- Life Sciences
- Inferred from text
- RNA sequencing 75% · Sequencing 75%
Provenance · 1 source records, 9 field assertions
| Source | Key | Last seen | Raw |
|---|---|---|---|
| NCBI GEO | GSE304636 | 13 d ago | JSON v1 |
| Field | Assertion | Extractor | Evidence |
|---|---|---|---|
| access_level | source · NCBI GEO | connector:ncbi_geo@1.0.0 | |
| concepts[field].local:field:life-sciences | mapping · NCBI GEO | connector:ncbi_geo@1.0.0 | |
| concepts[method].geo_series_type:expression-profiling-by-high-throughput-sequencing | source · NCBI GEO | connector:ncbi_geo@1.0.0 | /gdstype |
| concepts[modality].local:modality:rna-seq | enrichment · NCBI GEO | keyword-concept-rules@1.0.0 | title+description (75%) |
| concepts[modality].local:modality:sequencing | enrichment · NCBI GEO | keyword-concept-rules@1.0.0 | title+description (75%) |
| concepts[organism].NCBITaxon:9606 | source · NCBI GEO | connector:ncbi_geo@1.0.0 | /taxon |
| description | source · NCBI GEO | connector:ncbi_geo@1.0.0 | /summary |
| publication_date | source · NCBI GEO | connector:ncbi_geo@1.0.0 | |
| title | source · NCBI GEO | connector:ncbi_geo@1.0.0 | /title |