Visualization of regulatory element with DNMs in transcripts



Visualization of de novo variants in transcripts


Visualization of original de novo CNV set
   There is no corresponding data published yet, we will update it when such data available.

Transcripts
Transcript ID Transcript exon region Coding exon region
ENST00000377208 [[79172496, 79176686], [79177338, 79177673]] [[79175549, 79176686], [79177338, 79177461]]
NM_006237 [[79173226, 79176686], [79177338, 79177695]] [[79175549, 79176686], [79177338, 79177461]]
Promoter
Chrom Start End Description
chr13 79177629 79177636 CAGE_peak_4_at_POU4F1_5end
chr13 79177674 79177701 CAGE_peak_1_at_POU4F1_5end
chr13 79177703 79177729 CAGE_peak_2_at_POU4F1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I078657 78657707 78660679 2.02 [{'connected_gene': 'RNF219', 'score': 550.77}, {'connected_gene': 'RBM26', 'score': 11.89}, {'connected_gene': 'ENSG00000271776', 'score': 11.79}, {'connected_gene': 'POU4F1', 'score': 7.96}, {'connected_gene': 'GC13P078744', 'score': 0.17}]
chr13 GH13I078646 78646177 78648141 0.95 [{'connected_gene': 'POU4F1', 'score': 11.12}, {'connected_gene': 'ENSG00000271776', 'score': 10.2}, {'connected_gene': 'GC13P078650', 'score': 0.77}, {'connected_gene': 'GC13M078632', 'score': 0.44}, {'connected_gene': 'RNF219', 'score': 0.39}]
chr13 GH13I078601 78601013 78604007 1.6 [{'connected_gene': 'POU4F1', 'score': 559.41}, {'connected_gene': 'RBM26', 'score': 17.83}, {'connected_gene': 'ENSG00000271776', 'score': 9.74}, {'connected_gene': 'GC13M078596', 'score': 0.77}, {'connected_gene': 'GC13M078602', 'score': 0.39}, {'connected_gene': 'RNF219-AS1', 'score': 0.03}]
chr13 GH13I078129 78129081 78134391 0.57 [{'connected_gene': 'POU4F1', 'score': 10.92}, {'connected_gene': 'EDNRB', 'score': 10.8}, {'connected_gene': 'GC13M078137', 'score': 0.44}, {'connected_gene': 'PIR49322', 'score': 0.22}, {'connected_gene': 'RNF219-AS1', 'score': 0.08}]
chr13 GH13I078608 78608801 78609916 0.96 [{'connected_gene': 'ENSG00000271776', 'score': 9.94}, {'connected_gene': 'POU4F1', 'score': 0.44}, {'connected_gene': 'GC13M078602', 'score': 0.44}, {'connected_gene': 'RNF219-AS1', 'score': 0.03}]