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
ENST00000202816 [[13694968, 13695814], [13698014, 13698161], [13699554, 13699631], [13709024, 13709112], [13714367, 13714489], [13740338, 13740500], [13747423, 13747571], [13750552, 13750667], [13751976, 13752129], [13753160, 13753261], [13755802, 13755916], [13756518, 13756916], [13763149, 13763829], [13765467, 13765532]] [[13695520, 13695814], [13698014, 13698161], [13699554, 13699631], [13709024, 13709112], [13714367, 13714489], [13740338, 13740500], [13747423, 13747571], [13750552, 13750667], [13751976, 13752129], [13753160, 13753261], [13755802, 13755916], [13756518, 13756916], [13763149, 13763786]]
NM_016649 [[13694968, 13695814], [13698014, 13698161], [13699554, 13699631], [13709024, 13709112], [13714367, 13714489], [13740338, 13740500], [13747423, 13747571], [13750552, 13750667], [13751976, 13752129], [13753160, 13753261], [13755802, 13755916], [13756518, 13756916], [13763149, 13763829], [13765467, 13765532]] [[13695520, 13695814], [13698014, 13698161], [13699554, 13699631], [13709024, 13709112], [13714367, 13714489], [13740338, 13740500], [13747423, 13747571], [13750552, 13750667], [13751976, 13752129], [13753160, 13753261], [13755802, 13755916], [13756518, 13756916], [13763149, 13763786]]
NM_001276380 [[13694968, 13695814], [13698014, 13698161], [13699554, 13699631], [13709024, 13709112], [13714367, 13714489], [13740338, 13740500], [13747423, 13747571], [13750552, 13750667], [13751976, 13752129], [13753160, 13753261], [13755802, 13755916], [13756518, 13756916], [13763149, 13763829], [13765525, 13765579]] [[13695520, 13695814], [13698014, 13698161], [13699554, 13699631], [13709024, 13709112], [13714367, 13714489], [13740338, 13740500], [13747423, 13747571], [13750552, 13750667], [13751976, 13752129], [13753160, 13753261], [13755802, 13755916], [13756518, 13756916], [13763149, 13763786]]
Promoter
Chrom Start End Description
chr20 13763567 13763598 CAGE_peak_3_at_ESF1_5end
chr20 13765507 13765517 CAGE_peak_5_at_ESF1_5end
chr20 13765526 13765578 CAGE_peak_1_at_ESF1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr20 GH20I013735 13735894 13738218 0.2 [{'connected_gene': 'NDUFAF5', 'score': 29.76}, {'connected_gene': 'ESF1', 'score': 11.74}, {'connected_gene': 'GC20M013782', 'score': 0.25}, {'connected_gene': 'TASP1', 'score': 0.15}]
chr20 GH20I013777 13777188 13777600 0.84 [{'connected_gene': 'NDUFAF5', 'score': 9.3}, {'connected_gene': 'ESF1', 'score': 0.44}, {'connected_gene': 'GC20M013782', 'score': 0.44}, {'connected_gene': 'TASP1', 'score': 0.12}]
chr20 GH20I013783 13783386 13786921 2.09 [{'connected_gene': 'NDUFAF5', 'score': 560.46}, {'connected_gene': 'ESF1', 'score': 550.77}, {'connected_gene': 'GC20M013782', 'score': 550.77}, {'connected_gene': 'GC20P013817', 'score': 0.29}]
chr20 GH20I013784 13783184 13783243 0.5 [{'connected_gene': 'ESF1', 'score': 550.77}, {'connected_gene': 'NDUFAF5', 'score': 550.77}, {'connected_gene': 'GC20M013782', 'score': 550.77}]
chr20 GH20I013725 13725105 13725376 0.41 [{'connected_gene': 'ESF1', 'score': 0.22}, {'connected_gene': 'GC20M013782', 'score': 0.22}, {'connected_gene': 'TASP1', 'score': 0.17}]
chr20 GH20I013335 13335798 13337876 1 [{'connected_gene': 'ESF1', 'score': 1.22}, {'connected_gene': 'ENSG00000278153', 'score': 0.29}, {'connected_gene': 'ENSG00000225956', 'score': 0.16}]
chr20 GH20I013753 13753727 13754078 0.34 [{'connected_gene': 'GC20M013782', 'score': 0.31}, {'connected_gene': 'ESF1', 'score': 0.29}, {'connected_gene': 'TASP1', 'score': 0.14}]