Aberrant splicing exonizes C9ORF72 repeat expansion in ALS/FTD
RNA-seq (gene expression) · human · 18 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
- 18 samples: 8 conditions, mostly in duplicateGroups 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
- Aberrant splicing exonizes C9orf72 repeat expansion in ALS/FTDNature neuroscience · 2025
Read the full summary ↓
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.
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.
Supplementary files
The count tables and other files the authors uploaded. Take only the samples you need, or the whole study as GSE247790_RAW.tar (it can run to tens of gigabytes).
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.
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 PRJNA1040326 and SRA study SRP471909. Searching any of these in the dataset finder brings you back here.
Supports a between-group comparison across 16 samples.
How we read this: 8 replicated groups read from 18 sample titles; they account for 16 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.
- GSM7900791 patient-derived fibroblasts, C9 NRE- nuclear input, FB485 patient-derived fibrobl…
- GSM7900792 patient-derived fibroblasts, C9 NRE- nuclear ASO captured, FB485 patient-derived fibrobl…
- GSM7900793 patient-derived fibroblasts, C9 NRE- cytoplasmic input, FB485 patient-derived fibrobl…
- GSM7900794 patient-derived fibroblasts, C9 NRE- cytoplasmic ASO captured, FB485 patient-derived fibrobl…
- GSM7900795 patient-derived fibroblasts, C9 NRE- nuclear input, FB503 patient-derived fibrobl…
- GSM7900796 patient-derived fibroblasts, C9 NRE- nuclear ASO captured, FB503 patient-derived fibrobl…
- GSM7900797 patient-derived fibroblasts, C9 NRE- cytoplasmic input, FB503 patient-derived fibrobl…
- GSM7900798 patient-derived fibroblasts, C9 NRE- cytoplasmic ASO captured, FB503 patient-derived fibrobl…
- GSM7900799 patient-derived fibroblasts, C9 NRE+ nuclear input, FB504 patient-derived fibrobl…
- GSM7900800 patient-derived fibroblasts, C9 NRE+ nuclear ASO captured, FB504 patient-derived fibrobl…
- GSM7900801 patient-derived fibroblasts, C9 NRE+ cytoplasmic input, FB504 patient-derived fibrobl…
- GSM7900802 patient-derived fibroblasts, C9 NRE+ cytoplasmic ASO captured, FB504 patient-derived fibrobl…
- GSM7900803 patient-derived fibroblasts, C9 NRE+ nuclear input, FB506 patient-derived fibrobl…
- GSM7900804 patient-derived fibroblasts, C9 NRE+ nuclear ASO captured, FB506 patient-derived fibrobl…
- GSM7900805 patient-derived fibroblasts, C9 NRE+ cytoplasmic input, FB506 patient-derived fibrobl…
- GSM7900806 patient-derived fibroblasts, C9 NRE+ cytoplasmic ASO captured, FB506 patient-derived fibrobl…
- GSM8288067 human iPSC-derived motor neurons, C9 NRE- cytoplasmic ASO captured, MN920
- GSM8288069 human iPSC-derived motor neurons, C9 NRE+ cytoplasmic ASO captured, MN307
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Metadata from NCBI GEO, cached and refreshed periodically — the NCBI page above is authoritative. Downloads link straight to NCBI/ENA; nothing is proxied through BioTransfer.