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WDFY3 loss-of-function leads to increased proliferation and altered differentiation of neuronal cells underlying the haploinsufficient human phenotype

GSE271636 Homo sapiens (human) RNA-seq (gene expression) 10 samples Submitted 2025/12/31 Platform GPL24676
At a glance

RNA-seq (gene expression) · human · 10 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
10 samples: 4 × Undifferentiated SH-SY5Y Neuronal Cell line, p8, DLD vs 2 × Undifferentiated SH-SY5Y Neuronal Cell line, p9, DLD vs 2 × Undifferentiated SH-SY5Y Neuronal Cell line, p11, DLDGroups 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)
Neurodevelopmental disorders (NDD) are poorly understood, and late diagnosis and interventions result in a high burden for the society and health system. WD Repeat and FYVE Domain Containing 3 (WDFY3) encodes for the autophagy adaptor protein ALFY. Loss-of-function (lof) variants in WDFY3 result in a monogenic condition characterized by mild to moderate developmental delay, neuropsychiatric disorders, and altered brain size. We present a comprehensive description of lof WDFY3-associated phenotypes in the largest cohort of patients to date (n = 26).
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 GSE271636_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 PRJNA1132536 and SRA study SRP518303. Searching any of these in the dataset finder brings you back here.

Study design
4 × Undifferentiated SH-SY5Y Neuronal Cell line, p8, DLD vs 2 × Undifferentiated SH-SY5Y Neuronal Cell line, p9, DLD vs 2 × Undifferentiated SH-SY5Y Neuronal Cell line, p11, DLD

Supports a between-group comparison across 8 samples.

How we read this: 3 replicated groups read from 10 sample titles; they account for 8 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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