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Series GSE113482 Query DataSets for GSE113482
Status Public on Jun 15, 2019
Title Mapping cis-regulatory chromatin contacts in neural cells links neuropsychiatric disorder risk variants to target genes [RNA-Seq]
Organism Homo sapiens
Experiment type Expression profiling by high throughput sequencing
Summary Mutations in gene regulatory elements have been associated with a wide range of complex neuropsychiatric disorders. However, due to their cell-type specificity and difficulties in characterizing their regulatory targets, the ability to identify causal genetic variants has remained limited. To address these constraints, we perform an integrative analysis of chromatin interactions, open chromatin regions and transcriptomes using promoter capture Hi-C, assay for transposase-accessible chromatin with high-throughput sequencing (ATAC-seq) and RNA sequencing, respectively, in four functionally distinct neural cell types: induced pluripotent stem cell (iPSC)-induced excitatory neurons and lower motor neurons, iPSC-derived hippocampal dentate gyrus-like neurons and primary astrocytes. We identify hundreds of thousands of long-range cis-interactions between promoters and distal promoter-interacting regions, enabling us to link regulatory elements to their target genes and reveal putative processes that are dysregulated in disease. Finally, we validate several promoter-interacting regions by using clustered regularly interspaced short palindromic repeats (CRISPR) techniques in human excitatory neurons, demonstrating that CDK5RAP3, STRAP and DRD2 are transcriptionally regulated by physically linked enhancers.
Overall design RNA-seq on iPSC-induced excitatory neurons (2 replicates), iPSC-derived hippocampal dentate gyrus (DG)-like neurons (2 replicates), iPSC-induced lower motor neurons (2 replicates), and human primary fetal astrocytes (4 replicates)

Plase note that processed data generated from multiple samples is linked to the corresponding rep1 sample records.
Contributor(s) Song M, Shen Y
Citation(s) 31367015
Submission date Apr 20, 2018
Last update date Sep 04, 2019
Contact name Yin Shen
Phone 4155023403
Organization name UCSF
Department Department of Neurology
Lab Shen Lab
Street address 513 Parnassus Ave
State/province CALIFORNIA
ZIP/Postal code 94143-0410
Country USA
Platforms (1)
GPL20301 Illumina HiSeq 4000 (Homo sapiens)
Samples (10)
GSM3106840 RNA-seq_iPSC-induced excitatory neurons_rep1
GSM3106841 RNA-seq_iPSC-induced excitatory neurons_rep2
GSM3106842 RNA-seq_human primary fetal astrocytes_rep1
This SubSeries is part of SuperSeries:
GSE113483 Mapping cis-regulatory chromatin contacts in neural cells links neuropsychiatric disorder risk variants to target genes
BioProject PRJNA451218
SRA SRP141471

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SOFT formatted family file(s) SOFTHelp
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Supplementary file Size Download File type/resource
GSE113482_RAW.tar 1.2 Gb (http)(custom) TAR (of BIGWIG, TXT)
SRA Run SelectorHelp
Raw data are available in SRA
Processed data provided as supplementary file

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