Mutations in unfolded protein response regulator ATF6 cause hearing and vision loss syndrome
RNA-seq (gene expression) · mouse · 11 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
- Mus musculus (mouse)
- Samples
- 11 samples: 6 × ATF6KO vs 5 × WTGroups 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
- Mutations in unfolded protein response regulator ATF6 cause hearing and vision loss syndromeThe Journal of clinical investigation · 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 GSE242321_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 PRJNA1013094 and SRA study SRP458571. Searching any of these in the dataset finder brings you back here.
Supports a between-group comparison across 11 samples.
How we read this: 2 replicated groups read from 11 sample titles; they account for 11 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.
- GSM7758090 WT1 WT
- GSM7758091 WT2 WT
- GSM7758092 WT3 WT
- GSM7758093 WT4 WT
- GSM7758094 WT5 WT
- GSM7758095 ATF6KO1 ATF6KO
- GSM7758096 ATF6KO2 ATF6KO
- GSM7758097 ATF6KO3 ATF6KO
- GSM7758098 ATF6KO4 ATF6KO
- GSM7758099 ATF6KO5 ATF6KO
- GSM7758100 ATF6KO6 ATF6KO
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- GSE269808 The antiviral nuclear body protein SP140 represses Ifnb1 transcript stabilization by the novel regulator RESIST [WT and SP140 KO RNA-seq] 12 samples shares regulator, protein
- GSE281608 CREBH Regulates Mitochondrial Unfolded Protein Response to Maintain Energy Homeostasis 6 samples shares unfolded, protein
- GSE292261 A dynamic gene regulatory code drives synaptic development of hippocampal granule cells [SS2] 576 samples shares regulator
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.