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The Potential Core Role of the FN1-Hippo Signaling Axis in the Pathological Mechanism of Autism spectrum disorder

GSE317721 Homo sapiens (human) RNA-seq (gene expression) 26 samples Submitted 2026/02/01 Platform GPL24676
At a glance

RNA-seq (gene expression) · human · 26 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
26 samples: 13 × Human, ASD group, vs 13 × Human, TD group,Groups 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.
Summary (written by the submitters)
Autism Spectrum Disorder (ASD) lacks reliable biomarkers and targeted therapies. This study integrated serum transcriptomics and proteomics from 13 ASD and 13 typically developing (TD) children to elucidate core molecular mechanisms. Differential expression analysis identified 6,563 genes (94.2% upregulated) and 157 proteins (75.2% downregulated), revealing widespread post-transcriptional dysregulation in ASD.
Read the full summary ↓
Functional enrichment demonstrated abnormalities in energy metabolism, ciliary function, and chemical perception pathways. O2PLS multi-omics integration nominated FN1 as a pivotal cross-omics target, exhibiting transcriptional elevation but proteomic reduction, indicating post-transcriptional perturbation. The Hippo signaling pathway emerged as a key regulatory hub connecting omics layers, with its core components (YAP1, MST1) significantly downregulated. Validation in a valproic acid-induced SH-SY5Y neuronal model confirmed that Hippo pathway inhibition drove FN1 transcriptional upregulation and selectively induced interleukin-6 (IL-6) expression, establishing a novel Hippo-FN1-IL-6 axis. This axis mechanistically links developmental signaling defects and neuroinflammation in ASD pathogenesis. Collectively, we define post-transcriptional dysregulation as a molecular hallmark of ASD and identify the Hippo-FN1-IL-6 cascade as a central pathogenic mechanism. FN1 represents a potential diagnostic biomarker and therapeutic target, providing novel insights for ASD intervention strategies.
This dataset
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.

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 GSE317721_RAW.tar (it can run to tens of gigabytes).

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.

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 PRJNA1415094 and SRA study SRP667693. Searching any of these in the dataset finder brings you back here.

Study design
13 × Human, ASD group, vs 13 × Human, TD group,

Supports a between-group comparison across 26 samples.

How we read this: 2 replicated groups read from 26 sample titles; they account for 26 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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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.