|
| Status |
Public on Dec 31, 2023 |
| Title |
SMCHD1 variants induce variegated expression in Facio Scapulo Humeral Dystophy and Bosma Arhinia and microphtalmia syndrome (ChIP-Seq). |
| Organism |
Homo sapiens |
| Experiment type |
Genome binding/occupancy profiling by high throughput sequencing
|
| Summary |
Determination of SMCHD1 epi-signature in type 2 Facio Scapulo Humeral Dystrophy (FSHD2) and Bosma Arhinia and Microphtalmia Syndrome (BAMS).
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| |
|
| Overall design |
By combining RNA Seq, DNA methylation profiling and ChIP-Seq, we showed that SMCHD1 regulates repressed chromatin but also cis-regulatory elements and enhancers. Samples are analyzed using two biological replicates
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| |
|
| Contributor(s) |
Magdinier F, Laberthonnière C, Chevalier R |
| Citation(s) |
37334829 |
| |
| Submission date |
May 20, 2021 |
| Last update date |
Apr 15, 2024 |
| Contact name |
Frederique Magdinier |
| Organization name |
Aix-Marseille Université - Marseille Medical Genetics
|
| Department |
MMG- U1251
|
| Street address |
27 Bvd Jean Moulin, Aix-Marseille Université. Faculté de Médecine. Campus La Timone
|
| City |
Marseille |
| ZIP/Postal code |
13005 |
| Country |
France |
| |
|
| Platforms (1) |
| GPL20301 |
Illumina HiSeq 4000 (Homo sapiens) |
|
| Samples (24)
|
|
| Relations |
| BioProject |
PRJNA731495 |
| SRA |
SRP320686 |
| Supplementary file |
Size |
Download |
File type/resource |
| GSE174769_RAW.tar |
4.9 Gb |
(http)(custom) |
TAR (of WIG) |
| GSE174769_rep1_BAMS_CTCF_peaks.xls.gz |
858 b |
(ftp)(http) |
XLS |
| GSE174769_rep1_BAMS_H3K4me3_peaks.xls.gz |
492.2 Kb |
(ftp)(http) |
XLS |
| GSE174769_rep1_CT_CTCF_peaks.xls.gz |
463.1 Kb |
(ftp)(http) |
XLS |
| GSE174769_rep1_CT_H3K27me3_peaks.xls.gz |
220.9 Kb |
(ftp)(http) |
XLS |
| GSE174769_rep1_CT_H3K4me3_peaks.xls.gz |
467.8 Kb |
(ftp)(http) |
XLS |
| GSE174769_rep1_FSHD2_CTCF_peaks.xls.gz |
135.0 Kb |
(ftp)(http) |
XLS |
| GSE174769_rep1_FSHD2_H3K4me3_peaks.xls.gz |
363.9 Kb |
(ftp)(http) |
XLS |
| GSE174769_rep1_nomodel_BAMS_H3K27me3_peaks.xls.gz |
110.4 Kb |
(ftp)(http) |
XLS |
| GSE174769_rep1_nomodel_FSHD2_H3K27me3_peaks.xls.gz |
43.9 Kb |
(ftp)(http) |
XLS |
| GSE174769_rep2_BAMS_CTCF_peaks.xls.gz |
392.1 Kb |
(ftp)(http) |
XLS |
| GSE174769_rep2_BAMS_H3K4me3_peaks.xls.gz |
421.1 Kb |
(ftp)(http) |
XLS |
| GSE174769_rep2_CT_CTCF_peaks.xls.gz |
397.4 Kb |
(ftp)(http) |
XLS |
| GSE174769_rep2_CT_H3K27me3_peaks.xls.gz |
201.3 Kb |
(ftp)(http) |
XLS |
| GSE174769_rep2_CT_H3K4me3_peaks.xls.gz |
484.1 Kb |
(ftp)(http) |
XLS |
| GSE174769_rep2_FSHD2_CTCF_peaks.xls.gz |
219.3 Kb |
(ftp)(http) |
XLS |
| GSE174769_rep2_FSHD2_H3K4me3_peaks.xls.gz |
513.2 Kb |
(ftp)(http) |
XLS |
| GSE174769_rep2_nomodel_BAMS_H3K27me3_peaks.xls.gz |
85.8 Kb |
(ftp)(http) |
XLS |
| GSE174769_rep2_nomodel_FSHD2_H3K27me3_peaks.xls.gz |
4.0 Kb |
(ftp)(http) |
XLS |
SRA Run Selector |
| Raw data are available in SRA |
| Processed data provided as supplementary file |
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