Topological domains of the rearranged region

On the top is the heatmap of Hi-C contact matrix, with deeper colors for larger contact values. The bold red bar represents the CR region. The DI(directionality index), HS(HMM state) and TB(TAD boundary) help us to determine TAD boundaries. E(Enhancer) reprents the number of basepairs corresponding to strong enhancers in 10 kb bins. The me1(H3K4me1) and ac(H3K27ac) ChIP-seq data help to determin enhancers. The Gene row contains gene information, such as gene names and strand information.

Disease name Gene name CR type Genome loci PubMed ID SI Score P-value
Acrocallosal syndrome (Polydactyly Type 1) IHH Duplication chr2: 219,876,448 - 220,786,974 22234151 0 1

3D model of the rearranged region

The red region in the model corresponds to the CR region(bold red bar) indicated below the TAD image. The start and end positions correspond to chromosomal boundaries in the TAD image.