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Series GSE116986 Query DataSets for GSE116986
Status Public on Feb 26, 2019
Title De novo mutation in ELOVL1 causes ichthyosis, acanthosis nigricans, and hypomyelination with lower extremity spastic paraplegia, high frequency deafness, and tunnel vision.
Organism Homo sapiens
Experiment type Expression profiling by high throughput sequencing
Summary We have compared the transcriptome of cultured human fibroblasts from 2 patientes with a mutation in the ELOVL1 gene with the transcriptome of four healthy age-matched controls.
 
Overall design RNA-Seq transcriptome analysis of 2 patients and of 4 controls with a sequencing depth of >60 Mio reads.
Web link https://0-jmg-bmj-com.brum.beds.ac.uk/content/56/3/164
 
Contributor(s) Schuelke M
Citation(s) 30487246
Submission date Jul 12, 2018
Last update date Feb 27, 2019
Contact name Markus Schuelke
E-mail(s) markus.schuelke@charite.de
Phone ++49 30 4505 66112
Organization name Charite
Department Neuropediatrics
Lab Schuelke lab
Street address Augustenburger Platz 1
City Berlin
State/province Berlin
ZIP/Postal code 13353
Country Germany
 
Platforms (1)
GPL23227 BGISEQ-500 (Homo sapiens)
Samples (6)
GSM3266850 Patient 1
GSM3266851 Patient 2
GSM3266852 Control 1 (male)
Relations
BioProject PRJNA480790
SRA SRP153156

Download family Format
SOFT formatted family file(s) SOFTHelp
MINiML formatted family file(s) MINiMLHelp
Series Matrix File(s) TXTHelp

Supplementary file Size Download File type/resource
GSE116986_CUFFDIFF_gene_exp.diff.gz 1.9 Mb (ftp)(http) DIFF
GSE116986_CUFFDIFF_genes.count_tracking.txt.gz 1.0 Mb (ftp)(http) TXT
GSE116986_CUFFDIFF_genes.fpkm_tracking.gz 2.4 Mb (ftp)(http) FPKM_TRACKING
GSE116986_CUFFDIFF_genes.read_group_tracking.txt.gz 3.3 Mb (ftp)(http) TXT
GSE116986_CUFFNORM_genes.attr_table.txt.gz 1.5 Mb (ftp)(http) TXT
GSE116986_CUFFNORM_genes.count_table.txt.gz 789.9 Kb (ftp)(http) TXT
GSE116986_CUFFNORM_genes.fpkm_table.txt.gz 991.3 Kb (ftp)(http) TXT
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Raw data are available in SRA
Processed data are available on Series record

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