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
ENST00000367592 [[143771943, 143772252], [143784052, 143784134], [143789258, 143789302], [143792097, 143792222], [143792519, 143792586], [143792693, 143792748], [143793296, 143793398]] [[143772179, 143772252], [143784052, 143784134], [143789258, 143789302], [143792097, 143792222], [143792519, 143792586], [143792693, 143792748], [143793296, 143793398]]
ENST00000367591 [[143772116, 143772252], [143780221, 143780353], [143784052, 143784134], [143789258, 143789302], [143792097, 143792222], [143792519, 143792586], [143792693, 143792748], [143793296, 143793465], [143795922, 143795993], [143800212, 143800335], [143806288, 143806385], [143810279, 143811147]] [[143772179, 143772252], [143780221, 143780353], [143784052, 143784134], [143789258, 143789302], [143792097, 143792222], [143792519, 143792586], [143792693, 143792748], [143793296, 143793465], [143795922, 143795993], [143800212, 143800335], [143806288, 143806385], [143810279, 143810363]]
ENST00000585848 [[143806208, 143806385], [143810279, 143810510]] None
NM_003630 [[143771917, 143772252], [143780221, 143780353], [143784052, 143784134], [143789258, 143789302], [143792097, 143792222], [143792519, 143792586], [143792693, 143792748], [143793296, 143793465], [143795922, 143795993], [143800212, 143800335], [143806288, 143806385], [143810279, 143811753]] [[143772179, 143772252], [143780221, 143780353], [143784052, 143784134], [143789258, 143789302], [143792097, 143792222], [143792519, 143792586], [143792693, 143792748], [143793296, 143793465], [143795922, 143795993], [143800212, 143800335], [143806288, 143806385], [143810279, 143810363]]
Promoter
Chrom Start End Description
chr6 143771914 143771927 CAGE_peak_4_at_PEX3_5end
chr6 143771934 143771948 CAGE_peak_2_at_PEX3_5end
chr6 143771966 143772029 CAGE_peak_1_at_PEX3_5end
chr6 143772033 143772058 CAGE_peak_3_at_PEX3_5end
chr6 143772060 143772071 CAGE_peak_5_at_PEX3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I143288 143288037 143289537 0.2 [{'connected_gene': 'PEX3', 'score': 4.58}, {'connected_gene': 'ENSG00000217495', 'score': 0.39}, {'connected_gene': 'ENSG00000225752', 'score': 0.09}, {'connected_gene': 'AIG1', 'score': 0.07}]
chr6 GH06I143449 143449189 143452223 2.42 [{'connected_gene': 'ADAT2', 'score': 623.45}, {'connected_gene': 'PEX3', 'score': 555.92}, {'connected_gene': 'RNA5SP221', 'score': 550.77}, {'connected_gene': 'LTV1', 'score': 98.85}, {'connected_gene': 'ENSG00000270890', 'score': 61.94}, {'connected_gene': 'VDAC1P8', 'score': 42.01}, {'connected_gene': 'PLAGL1', 'score': 30.51}, {'connected_gene': 'TUBB8P2', 'score': 27.4}]
chr6 GH06I142819 142818797 142823485 1.53 [{'connected_gene': 'VDAC1P8', 'score': 20.66}, {'connected_gene': 'ADAT2', 'score': 13.04}, {'connected_gene': 'PEX3', 'score': 9.67}, {'connected_gene': 'ADGRG6', 'score': 4.52}, {'connected_gene': 'HIVEP2', 'score': 4.47}, {'connected_gene': 'ENSG00000237851', 'score': 0.29}, {'connected_gene': 'LOC105369170', 'score': 0.14}]