Study
A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi
Study ID | Alternative Stable ID | Type |
---|---|---|
EGAS00001002075 | Other |
Study Description
VPS15 is known as a VPS34-associated protein that functions in intracellular trafficking and autophagy. Here the authors identify a role for VPS15 in cilopathy and ciliary phenotypes, and show that it interacts with GM130 and functions in IFT20-dependent cis-Golgi to cilium trafficking.
Study Datasets 1 dataset.
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Dataset ID | Description | Technology | Samples |
---|---|---|---|
EGAD00001002736 |
WES of human:
A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi
WES (Agilent SureSelect All Exon XT2 50 Mb kit) has been realized on three affected siblings (II.1, II.3, II.5) and one healthy sister (II.4).
Raw data (BAM files) are provided:
- II.1.aligned.sorted.dedup.realign.recal.bam
- II.3.aligned.sorted.dedup.realign.recal.bam
- II.5.aligned.sorted.dedup.realign.recal.bam
- II.4.aligned.sorted.dedup.realign.recal.bam
|
Illumina HiSeq 2500 | 4 |
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