Skip to main content
Fig. 5 | Clinical Epigenetics

Fig. 5

From: Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile

Fig. 5

DMRs enrichment for 15 chromatin states in 127 reference epigenomes in DYT28. Boxplots display enrichment scores (GIGGLE combo scores) distribution for 15 chromatin states as defined by the NIH Roadmap Epigenomics project. The active states (associated with expressed genes) consist of active transcription start site (TSS) proximal promoter states (Active TSS and Flanking Active TSS), a transcribed state at the 5′ and 3′ end of genes showing both promoter and enhancer signatures (Transcription at 5' and 3'), actively transcribed states (Strong Transcription and Weak Transcription), enhancer states (Enhancers and Genic Enhancers) and a state associated with zinc finger protein genes (ZNF genes and repeats). The inactive states consist of constitutive heterochromatin, bivalent regulatory states (Bivalent poised TSS, Flanking bivalent TSS enhancers and Bivalent enhancers), repressed PolyComb states (Repressed PolyComb and Weak Repressed PolyComb) and a quiescent state

Back to article page

Clinical Epigenetics

ISSN: 1868-7083

Contact us