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Deregulated megakaryocytic maturation, mitochondrial function and inflammatory signalling in CYCS(c.292T>C)-related thrombocytopenia

GSE290319 Homo sapiens (human) RNA-seq (gene expression) 13 samples Submitted 2026/01/08 Platform GPL24676
At a glance

RNA-seq (gene expression) · human · 13 samples

What it is
RNA-seq (gene expression)Gene activity measured by sequencing. The summary does not mention single-cell work, so this is most likely bulk: one average per sample, the usual starting point for comparing groups.
Organism
Homo sapiens (human)
Samples
13 samples: 5 × Dami cells_heterozygous mutant CYCS_Mutant biol vs 4 × Dami cells_WT_Control biol vs 4 × Dami cells_homozygous mutant CYCS_Mutant biolGroups are read from the sample names, not from the paper. Check the list below.
Data you can get
A processed table (series matrix) and supplementary files from NCBI; the raw sequencing reads from ENA. Which of these hold counts depends on the study, so check the file list.
Paper
Deregulated megakaryocytic maturation, mitochondrial function and inflammatory signalling in CYCS(c.292T>C)-related thrombocytopeniaBritish journal of haematology · 2026
Summary (written by the submitters)
The human CYCS gene encodes for Cytochrome C, a mitochondrial protein with important cellular functions, including apoptosis and energy production. CYCS variants have been linked to CYCS-related thrombocytopenia, a mild autosomal dominant type of inherited thrombocytopenia. Here we report a novel heterozygous variant of the CYCS gene, c.292T>C, p.(Tyr98His) in a Greek family with thrombocytopenia.
Read the full summary ↓
The functional role of the novel variant has been examined in several cellular processes to delineate the mechanisms underlying the thrombocytopenic phenotype of the patients. In megakaryocytes, the novel variant has been associated with irregular apoptosis, ATP production, superoxidase activity and maturation. Transcriptomic data have validated the deregulation of these cellular processes and have provided information about the effect of the variant on Tumor Necrosis Factor A (TNFA) signaling. TNFA via Nuclear Factor Kappa B (NFKB) pathway has been positively enriched in megakaryocytes carrying the variant, possibly triggering the observed deregulation of apoptosis and differentiation. This study has provided insights on the novel CYCS variant revealing a connection to the thrombocytopenic phenotype through deregulated apoptosis, energy production, differentiation and TNFA via NFKB signaling in megakaryocytes, providing future opportunities to therapeutically target the deregulated pathways in CYCS-related thrombocytopenias.
Published in
Deregulated megakaryocytic maturation, mitochondrial function and inflammatory signalling in CYCS(c.292T>C)-related thrombocytopenia
Giavi K, Fasouli ES, Glentis S et al. · British journal of haematology 2026 · PMID 41496716 · doi:10.1111/bjh.70305
This dataset
Open GSE290319 in finder → Find more human RNA-seq datasets →
Download · which file do I need?

Direct links to NCBI and ENA, no account and no request form. Pick by what you want to do: take the small processed table to look, the supplementary files to re-analyse, or the original raw data to start over.

1 · Just have a look

Processed table

The series matrix: one table of values per sample as the submitters processed it. The smallest download, and it opens in Excel or R. Start here to see what the data look like.

Series matrix ↓
2 · Re-analyse it

Supplementary files

The count tables and other files the authors uploaded. Take only the samples you need, or the whole study as GSE290319_RAW.tar (it can run to tens of gigabytes).

All supplementary files ↗ Whole study · RAW.tar ↓
3 · Start from the raw reads

Raw sequencing reads

The original FASTQ files, straight from the sequencer, held at ENA. Large, and you align them yourself, so only choose this if you need to re-process the study from scratch.

Raw reads on ENA ↗

What the files usually look like: For RNA-seq the counts are usually a table among the supplementary files (look for 'counts', 'expression', 'FPKM' or 'TPM' in the file name). The series matrix of a sequencing study is sometimes nearly empty.

Also filed as BioProject PRJNA1227478 and SRA study SRP565914. Searching any of these in the dataset finder brings you back here.

NCBI GEO page ↗ Paper (PMID 41496716) ↗
Study design
5 × Dami cells_heterozygous mutant CYCS_Mutant biol vs 4 × Dami cells_WT_Control biol vs 4 × Dami cells_homozygous mutant CYCS_Mutant biol

Supports a case/control comparison: 9 samples read as cases, 4 as controls.

How we read this: 3 replicated groups read from 13 sample titles; they account for 13 of them. These groups are guessed from the sample names, not taken from the paper, so check them against the sample list below before relying on them.

Samples in this study
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