A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi

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.

Type: Other
Archiver: European Genome-Phenome Archive (EGA)

1 Dataset 1 Publication

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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

Publications	Citations
A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi. Stoetzel C, Bär S, De Craene JO, Scheidecker S, Etard C, Chicher J, Reck JR, Perrault I, Geoffroy V, Chennen K, Strähle U, Hammann P, Friant S, Dollfus H. Nat Commun 7: 2016 13586	40