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
ENST00000288022 [[69362523, 69363082], [69363899, 69364498]] [[69362924, 69363082], [69363899, 69364473]]
NM_022341 [[69362523, 69363082], [69363899, 69364498]] [[69362924, 69363082], [69363899, 69364473]]
Promoter
Chrom Start End Description
chr16 69364429 69364448 CAGE_peak_3_at_PDF_5end
chr16 69364449 69364465 CAGE_peak_2_at_PDF_5end
chr16 69364467 69364516 CAGE_peak_1_at_PDF_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I069756 69756674 69757597 0.66 [{'connected_gene': 'NONOP1', 'score': 550.77}, {'connected_gene': 'ENSG00000252443', 'score': 11.58}, {'connected_gene': 'NPIPB14P', 'score': 7.82}, {'connected_gene': 'LOC100506083', 'score': 5.14}, {'connected_gene': 'NOB1', 'score': 2.22}, {'connected_gene': 'PDF', 'score': 1.98}, {'connected_gene': 'NIP7', 'score': 1.56}]
chr16 GH16I069097 69097315 69098117 0.38 [{'connected_gene': 'RNU6-898P', 'score': 11.35}, {'connected_gene': 'UTP4', 'score': 10.51}, {'connected_gene': 'CHTF8', 'score': 10.51}, {'connected_gene': 'SNTB2', 'score': 10.21}, {'connected_gene': 'ENSG00000200164', 'score': 10.21}, {'connected_gene': 'PDF', 'score': 8.23}, {'connected_gene': 'CDH1', 'score': 5.93}, {'connected_gene': 'HAS3', 'score': 0.44}, {'connected_gene': 'RPS2P45', 'score': 0.21}]
chr16 GH16I069328 69328291 69331629 2.06 [{'connected_gene': 'PIR46379', 'score': 550.77}, {'connected_gene': 'PDF', 'score': 550.77}, {'connected_gene': 'UTP4', 'score': 17.55}, {'connected_gene': 'SNTB2', 'score': 12.86}, {'connected_gene': 'NIP7', 'score': 12.8}, {'connected_gene': 'TMED6', 'score': 6.71}, {'connected_gene': 'PIR53878', 'score': 0.77}, {'connected_gene': 'COG8', 'score': 0.44}]
chr16 GH16I069356 69356794 69357599 0.2 [{'connected_gene': 'ENSG00000260371', 'score': 550.77}, {'connected_gene': 'PDF', 'score': 12.41}, {'connected_gene': 'WWP2', 'score': 9.43}, {'connected_gene': 'ENSG00000252443', 'score': 9.42}, {'connected_gene': 'PIR63038', 'score': 0.44}, {'connected_gene': 'TERF2', 'score': 0.23}]
chr16 GH16I069717 69717225 69717625 0.26 [{'connected_gene': 'GC16M069712', 'score': 550.77}, {'connected_gene': 'NQO1', 'score': 8.78}, {'connected_gene': 'TERF2', 'score': 1.25}, {'connected_gene': 'PDF', 'score': 1.21}, {'connected_gene': 'ENSG00000261602', 'score': 0.44}]