DESCRIPTION:
A Kleefstra Syndrome patient’s known pathogenic EHMT1 genetic variant, EHMT1_c.3430C > T; p.Gln1144* (referred to as EHMT1_SNV) was introduced into iPSCs by CRISPR single base editing, followed by neuronal cell differentiation. IPSCs were induced for neural differentiation to form neural progenitor cells (NPCs). Kleefstra syndrome is caused by EHMT1 haploinsufficiency that results in partial or complete loss of EHMT1 expression. Expression was compared in NPCs between NPC_EHMT1_SNV and NPC_EHMT1_WT. 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 SRP325023. Experimental Factor Ontology EFO:EFO_0010976; KOLF2-C1.
LABEL:
Up regulated genes from NPC_EHMT1_SNV compared to NPC_EHMT1_WT
SCORE TYPE:
Effect
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