{"database":"EGA","file_versions":[],"scores":null,"additional":{"omics_type":["Genomics"],"dataset_type":["Illumina HiSeq 2500;"],"full_dataset_link":["https://ega-archive.org/datasets/EGAD00001002736"],"sample_count":["4"],"description":["EGA dataset EGAD00001002736"],"repository":["EGA"],"title":["PIK3R4 (VPS15)"],"name_synonyms":["Vasp, VASP, Data Set., DmelCG15112, ENHANCER OF ATNSI ACTIVITY, MENA, NDPP1, l(2)02029, Enb, enb, ENA, Ena, CG15112, ENA/VASP"],"description_synonyms":["Bru, human being, BamF, bim, biml, Raw, BamC, bam, SCF receptor activity, VAC4, Mini Exon, Xkl-1, 2610511A05Rik, aligned, Human, BB234005, fs(3)neo61, Mutations, CG10422, KL receptor activity, Gsfsco1, Homo sapiens, scfr, Mini-Exon, p150, SCO5, bim-beta7, SCO1, Del(8)44H, DmelCG10422, Gsfsow3, SCFR, Gsfsco5, Man, SOW3, Svc, Brothers, WES, Fdc, Man (Taxonomy), HCAP, bim-beta6, Ciliopathy, W, CDLS3, VPS15, BMH, Golgi ribbon, BMH., Protein G18, Bs, 2210010O15Rik, CSPG6, Sl, BACTS2, ahl4, proto-oncogene c-Kit, Modern, Tr-kit, ham, aligned to, Brother, BOD, C85833, VPL19, PBT, ciliopathies, KIT ligand receptor activity, Cis, CIS, G18, kl1-A, bod, KIT, bimel, C730038E05Rik, GRD8, XKrk1, tyrosine-protein kinase Kit, CIS-1, pbt, c-KIT, Col4a-1, Sibling, exonic region, Mini-Exons, Exon, 9030605P22Rik, kit, alpha, CD117, Sister, human, D9Ertd418e, c-kit, BIM, C-Kit, SOCS, Bam-C, Ssm, Modern Man, BAM, Bam, xkl-1, SMC3L1, Sisters, VPS40, Suppressor of cytokine signaling, krk1"],"additional_accession":[]},"is_claimable":false,"name":"ena-DATASET-U1112-11-10-2016-17:37:16:253-103 - samples","description":"WES of human:\nA mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi\n\nWES (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).\nRaw data (BAM files) are provided:\n- II.1.aligned.sorted.dedup.realign.recal.bam\n- II.3.aligned.sorted.dedup.realign.recal.bam\n- II.5.aligned.sorted.dedup.realign.recal.bam\n- II.4.aligned.sorted.dedup.realign.recal.bam","dates":{"updated":"2017-07-26 15:39:29"},"accession":"EGAD00001002736","cross_references":{"TAXONOMY":["9606"],"EGA":["EGAC00001000552","EGAS00001002075"]}}