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
ENST00000392052 [[40194945, 40195183], [40197236, 40197313], [40197817, 40198028], [40199836, 40200084]] [[40195168, 40195183], [40197236, 40197313], [40197817, 40198028], [40199836, 40199953]]
ENST00000360675 [[40195120, 40195183], [40196344, 40196649], [40197236, 40197313], [40197817, 40198028], [40199836, 40199953]] [[40196547, 40196649], [40197236, 40197313], [40197817, 40198028], [40199836, 40199953]]
ENST00000601802 [[40195141, 40195183], [40197817, 40198028], [40199836, 40200052]] [[40195141, 40195183], [40197817, 40198028], [40199836, 40199953]]
NM_020129 [[40194945, 40195183], [40197236, 40197313], [40197817, 40198028], [40199836, 40200088]] [[40195168, 40195183], [40197236, 40197313], [40197817, 40198028], [40199836, 40199953]]
NM_203471 [[40194945, 40195183], [40196344, 40196649], [40197236, 40197313], [40197817, 40198028], [40199836, 40200088]] [[40196547, 40196649], [40197236, 40197313], [40197817, 40198028], [40199836, 40199953]]
Promoter
Chrom Start End Description
chr19 40194964 40194986 CAGE_peak_3_at_LGALS14_5end
chr19 40194992 40195006 CAGE_peak_4_at_LGALS14_5end
chr19 40195084 40195100 CAGE_peak_2_at_LGALS14_5end
chr19 40195101 40195131 CAGE_peak_1_at_LGALS14_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I039703 39703812 39707273 1.49 [{'connected_gene': 'LGALS14', 'score': 550.77}, {'connected_gene': 'ZNF780B', 'score': 25.19}, {'connected_gene': 'HNRNPL', 'score': 12.96}, {'connected_gene': 'LGALS17A', 'score': 12.63}, {'connected_gene': 'NUMBL', 'score': 11.92}, {'connected_gene': 'CLC', 'score': 11.66}, {'connected_gene': 'AKT2', 'score': 11.07}, {'connected_gene': 'PAK4', 'score': 10.86}, {'connected_gene': 'EID2B', 'score': 10.29}, {'connected_gene': 'ENSG00000278813', 'score': 0.34}]
chr19 GH19I039708 39708039 39709750 0.74 [{'connected_gene': 'LGALS17A', 'score': 4.85}, {'connected_gene': 'LGALS14', 'score': 0.77}, {'connected_gene': 'ENSG00000278813', 'score': 0.37}]
chr19 GH19I039700 39700230 39703012 0.69 [{'connected_gene': 'CLC', 'score': 11.64}, {'connected_gene': 'EID2B', 'score': 10.3}, {'connected_gene': 'LGALS17A', 'score': 4.88}, {'connected_gene': 'ZNF780B', 'score': 4.68}, {'connected_gene': 'LGALS14', 'score': 0.77}, {'connected_gene': 'RPS29P27', 'score': 0.77}]
chr19 GH19I039699 39699157 39700042 0.2 [{'connected_gene': 'RPS29P27', 'score': 550.77}, {'connected_gene': 'CLC', 'score': 11.64}, {'connected_gene': 'EID2B', 'score': 10.3}, {'connected_gene': 'LGALS14', 'score': 0.77}]