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
ENST00000554048 [[57665388, 57665850], [57666634, 57666740], [57669695, 57669841], [57670534, 57670646], [57672010, 57672165], [57678786, 57678811]] [[57665779, 57665850], [57666634, 57666740], [57669695, 57669841], [57670534, 57670646], [57672010, 57672165], [57678786, 57678811]]
NM_001012729 [[57663093, 57665850], [57666634, 57666740], [57669695, 57669841], [57670534, 57670646], [57672010, 57672165], [57678786, 57678856]] [[57665779, 57665850], [57666634, 57666740], [57669695, 57669841], [57670534, 57670646], [57672010, 57672165], [57678786, 57678811]]

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I057190 57190800 57192774 1.94 [{'connected_gene': 'ZNF264', 'score': 561.88}, {'connected_gene': 'ZNF548', 'score': 26.04}, {'connected_gene': 'ZNF417', 'score': 23.28}, {'connected_gene': 'ZNF134', 'score': 22.49}, {'connected_gene': 'ZNF274', 'score': 19.76}, {'connected_gene': 'AURKC', 'score': 18.46}, {'connected_gene': 'ZNF773', 'score': 13.17}, {'connected_gene': 'ZNF550', 'score': 11.93}, {'connected_gene': 'ZIM3', 'score': 11.16}, {'connected_gene': 'ZNF805', 'score': 11.06}, {'connected_gene': 'ZNF256', 'score': 10.33}, {'connected_gene': 'ZNF211', 'score': 10.11}, {'connected_gene': 'ZNF606', 'score': 10.11}, {'connected_gene': 'DUXA', 'score': 9.56}, {'connected_gene': 'ZNF460-AS1', 'score': 5.92}, {'connected_gene': 'PIR40321', 'score': 0.31}]
chr19 GH19I057171 57171401 57173002 0.97 [{'connected_gene': 'GC19M057103', 'score': 550.77}, {'connected_gene': 'LOC100132009', 'score': 26.51}, {'connected_gene': 'AURKC', 'score': 17.15}, {'connected_gene': 'ZNF805', 'score': 10.75}, {'connected_gene': 'DUXA', 'score': 0.77}]