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					GeneSet Title
	Tier IV	Human		316 Genes	GS407278 Down regulated genes from primary human dermal fibroblast from patients with AGO2 mutations and affects on neurological development
					LABEL: Down regulated genes from fibrolbasts of AGO2 mutation patients compared to age-matched individuals DESCRIPTION: ARGONAUTE-2 (AGO2) and associated miRNAs form the RNA-induced silencing complex (RISC), that targets mRNAs for translational silencing and degradation, as part of the RNA interference pathway. RNA sequencing was performed of primary dermal fibroblasts obtained from two patients bearing the p.L192P (cases 2 and 3) and one patient with the p.A367P mutation (case 14). The researchers compared the expression patterns of the protein coding transcripts to fibroblasts from age-matched individuals, who were either unaffected or bear a causative mutation unrelated to AGO2. Expression values were calculated by the method detailed in 'HBA-DEALS: accurate and simultaneous identification of differential expression and splicing using hierarchical Bayesian analysis' (Genome Biol. 2020, PMID: 32660516), and log base 2 of the fold change are presented with a FDR of <0.05. Down regulated genes were annotated as Ensembl gene ids. SRA Study id SRP233483. Cell Line Ontology CLO:0037302; Primary Human Dermal Fibroblasts.
	Tier IV	Human		550 Genes	GS407279 Up regulated genes from primary human dermal fibroblast from patients with AGO2 mutations and affects on neurological development
					LABEL: Up regulated genes from fibrolbasts of AGO2 mutation patients compared to age-matched individuals DESCRIPTION: ARGONAUTE-2 (AGO2) and associated miRNAs form the RNA-induced silencing complex (RISC), that targets mRNAs for translational silencing and degradation, as part of the RNA interference pathway. RNA sequencing was performed of primary dermal fibroblasts obtained from two patients bearing the p.L192P (cases 2 and 3) and one patient with the p.A367P mutation (case 14). The researchers compared the expression patterns of the protein coding transcripts to fibroblasts from age-matched individuals, who were either unaffected or bear a causative mutation unrelated to AGO2. Expression values were calculated by the method detailed in 'HBA-DEALS: accurate and simultaneous identification of differential expression and splicing using hierarchical Bayesian analysis' (Genome Biol. 2020, PMID: 32660516), and log base 2 of the fold change are presented with a FDR of <0.05. Up regulated genes were annotated as Ensembl gene ids. SRA Study id SRP233483. Cell Line Ontology CLO:0037302; Primary Human Dermal Fibroblasts.

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Supported by NIH R01 AA18776 jointly funded by NIAAA and NIDA, and JAX Center for Precision Genetics NIH U54 OD 020351