Dataset Information


Transcription profiling by high throughput sequencing of HNRNPC knockdown and control HeLa cells

ABSTRACT: We performed RNA-seq experiments on two replicate samples from each HNRNPC knockdown (KD1 and KD2) As well as from control HeLa cells. Library preparation was preformed according to mRNA Sequencing Sample Preparation Guide (Illumina, Part # 1004898 REV. D). Reagents were taken from the Illumina sample preparation kit (Illumina, CAT # RS-930-1001). Knockdown and control samples were sequenced together in one flowcell on one and two lanes, respectively.

INSTRUMENT(S): Illumina Genome Analyzer II

ORGANISM(S): Homo sapiens  

SUBMITTER: Julian Konig  

PROVIDER: E-MTAB-1147 | ArrayExpress | 2013-01-31



Dataset's files

Action DRS
E-MTAB-1147.README.txt Txt
E-MTAB-1147.idf.txt Idf
E-MTAB-1147.sdrf.txt Txt
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A novel human-specific splice isoform alters the critical C-terminus of Survival Motor Neuron protein.

Seo Joonbae J   Singh Natalia N NN   Ottesen Eric W EW   Lee Brian M BM   Singh Ravindra N RN  

Scientific reports 20160802

Spinal muscular atrophy (SMA), a leading genetic disease of children and infants, is caused by mutations or deletions of Survival Motor Neuron 1 (SMN1) gene. SMN2, a nearly identical copy of SMN1, fails to compensate for the loss of SMN1 due to skipping of exon 7. SMN2 predominantly produces SMNΔ7, an unstable protein. Here we report exon 6B, a novel exon, generated by exonization of an intronic Alu-like sequence of SMN. We validate the expression of exon 6B-containing transcripts SMN6B and SMN6  ...[more]

Publication: 1/2

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