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
ENST00000244069 [[43835637, 43835770], [43836014, 43836784], [43836964, 43837327]] [[43835694, 43835770], [43836014, 43836784], [43836964, 43837327]]
ENST00000372781 [[43835637, 43835770], [43836014, 43837371], [43838241, 43838413]] [[43835694, 43835770], [43836014, 43837327]]
NM_003007 [[43835604, 43835770], [43836014, 43837371], [43838241, 43838414]] [[43835694, 43835770], [43836014, 43837327]]
Promoter
Chrom Start End Description
chr20 43835380 43835384 CAGE_peak_2_at_SEMG1_5end,CAGE_peak_3_at_SEMG2_5end
chr20 43835666 43835686 CAGE_peak_1_at_SEMG1_5end,CAGE_peak_1_at_SEMG2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr20 GH20I045206 45206985 45207044 0.5 [{'connected_gene': 'SEMG1', 'score': 550.77}, {'connected_gene': 'SLPI', 'score': 12.92}, {'connected_gene': 'SEMG2', 'score': 0.39}]
chr20 GH20I045209 45209980 45210149 0.38 [{'connected_gene': 'SEMG1', 'score': 0.77}, {'connected_gene': 'SEMG2', 'score': 0.39}]
chr20 GH20I045180 45180201 45180400 0.2 [{'connected_gene': 'LOC101929866', 'score': 550.77}, {'connected_gene': 'WFDC5', 'score': 10.81}, {'connected_gene': 'SEMG1', 'score': 0.31}]