GEO series

Thyroid cancer-associated EZH1 Q571R mutation drives chromatin compaction and H3K27me3 invasion into active chromatin

GSE294325 Homo sapiens (human) RNA-seq (gene expression) 18 samples Submitted 2026/07/03 Platform GPL24676

At a glance

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)
Topic: Thyroid cancerThis series is part of our curated briefing on it.
Samples: 18 samples: 6 conditions, mostly in triplicateGroups 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)

Dysregulation of Polycomb Repressive Complex 2 (PRC2) contributes to cancer. Of its catalytic subunits, Enhancer of Zeste (EZH) 1 and EZH2, EZH2 mutations are extensively studied, but the role of EZH1 in cancer remains largely unexplored. Here, we investigate the thyroid cancer-associated EZH1 Q571R mutation and uncover a mechanism that extends beyond catalytic gain of function.

Read the full summary ↓

Using biochemical, single-molecule, epigenomic, and transcriptomic analyses, we demonstrated that EZH1 Q571R significantly enhances chromatin compaction and stimulates PRC2-EZH1 catalytic activity, thereby rewiring PRC2 chromatin interactions. This altered engagement enables PRC2 activity within H3K36me2-marked chromatin typically refractory to H3K27 methylation, leading to widespread epigenetic and transcriptional reprogramming. Notably, enhanced chromatin compaction is observed with EZH1 Q571R but not with the corresponding EZH2 Q570R mutation, indicating an EZH1-specific mechanism. Functionally, EZH1 Q571R accelerated tumor growth in vivo and induced pronounced micronuclei formation ex vivo, reflecting aberrant chromatin compaction and genome instability. Together, our study demonstrates that EZH1 Q571R promotes a permissive epigenomic landscape for the progression of follicular thyroid cancer.

This dataset

Open GSE294325 in finder → Find more human RNA-seq datasets → Thyroid cancer landscape →

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 GSE294325_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 PRJNA1249028 and SRA study SRP578011. Searching any of these in the dataset finder brings you back here.

NCBI GEO page ↗

Study design

6 conditions, mostly in triplicate

Nthy, EZH1 WT, RNA, ×3 Nthy, EZH1 Q571R, RNA, ×3 Nty, EZH1 Y727D, RNA, ×3 Nty, EZH1 Q571R;Y727D, RNA, ×3 Nthy, EZH2 WT, RNA, ×3 Nthy, EZH2 Q570R, RNA, ×3

Supports a between-group comparison across 18 samples.

How we read this: 6 replicated groups read from 18 sample titles; they account for 18 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

GSM8902399 Nthy, EZH1 WT, RNA, rep1 Nthy, EZH1 WT, RNA,
GSM8902400 Nthy, EZH1 WT, RNA, rep2 Nthy, EZH1 WT, RNA,
GSM8902401 Nthy, EZH1 WT, RNA, rep3 Nthy, EZH1 WT, RNA,
GSM8902402 Nthy, EZH1 Q571R, RNA, rep1 Nthy, EZH1 Q571R, RNA,
GSM8902403 Nthy, EZH1 Q571R, RNA, rep2 Nthy, EZH1 Q571R, RNA,
GSM8902404 Nthy, EZH1 Q571R, RNA, rep3 Nthy, EZH1 Q571R, RNA,
GSM9381432 Nty, EZH1 Y727D, RNA, rep1 Nty, EZH1 Y727D, RNA,
GSM9381433 Nty, EZH1 Y727D, RNA, rep2 Nty, EZH1 Y727D, RNA,
GSM9381434 Nty, EZH1 Y727D, RNA, rep3 Nty, EZH1 Y727D, RNA,
GSM9381435 Nty, EZH1 Q571R;Y727D, RNA, rep1 Nty, EZH1 Q571R;Y727D, …
GSM9381436 Nty, EZH1 Q571R;Y727D, RNA, rep2 Nty, EZH1 Q571R;Y727D, …
GSM9381437 Nty, EZH1 Q571R;Y727D, RNA, rep3 Nty, EZH1 Q571R;Y727D, …
GSM9381438 Nthy, EZH2 WT, RNA, rep1 Nthy, EZH2 WT, RNA,
GSM9381439 Nthy, EZH2 WT, RNA, rep2 Nthy, EZH2 WT, RNA,
GSM9381440 Nthy, EZH2 WT, RNA, rep3 Nthy, EZH2 WT, RNA,
GSM9381441 Nthy, EZH2 Q570R, RNA, rep1 Nthy, EZH2 Q570R, RNA,
GSM9381442 Nthy, EZH2 Q570R, RNA, rep2 Nthy, EZH2 Q570R, RNA,
GSM9381443 Nthy, EZH2 Q570R, RNA, rep3 Nthy, EZH2 Q570R, RNA,

More Thyroid cancer datasets

GSE294323 Thyroid cancer-associated EZH1 Q571R mutation drives chromatin compaction and H3K27me3 invasion into active chromatin 18 samples same disease briefing · shares h3k27me3, q571r, ezh1, cancer-associated, compaction, chromatin, mutation, invasion
GSE294321 Thyroid cancer-associated EZH1 Q571R mutation drives chromatin compaction and H3K27me3 invasion into active chromatin 16 samples same disease briefing · shares h3k27me3, q571r, ezh1, cancer-associated, compaction, chromatin, mutation, invasion
GSE294320 Thyroid cancer-associated EZH1 Q571R mutation drives chromatin compaction and H3K27me3 invasion into active chromatin 12 samples same disease briefing · shares h3k27me3, q571r, ezh1, cancer-associated, compaction, chromatin, mutation, invasion
GSE244824 NSUN2 regulates thyroid cancer-associated alternative splicing switches 8 samples same disease briefing · shares cancer-associated
GSE317520 Mitochondrial DNA Mutations Drive Tumor Heterogeneity in Papillary Thyroid Carcinoma 92 samples same disease briefing · shares mutation
GSE310793 PRECISE: A prognostic thyroid follicular-cell derived gene signature for papillary thyroid carcinoma 109 samples same disease briefing
GSE165724 Transcriptome analysis discloses dysregulated genes in normal appearing tumor-adjacent thyroid tissues from patients with papillary thyroid carcinoma 74 samples same disease briefing
GSE223765 Mitochondrial SHMT2 is a crucial therapeutic target in dedifferentiated thyroid cancer (2nd study) 65 samples same disease briefing

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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.