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
ENST00000230050 [[133135579, 133135752], [133135870, 133135921], [133136110, 133136227], [133137599, 133137702], [133138098, 133138200], [133138618, 133138703]] [[133135907, 133135921], [133136110, 133136227], [133137599, 133137702], [133138098, 133138200], [133138618, 133138681]]
ENST00000484616 [[133135707, 133135752], [133135870, 133135921], [133136110, 133136363], [133137599, 133137702], [133138098, 133138200], [133138618, 133138703]] None
NM_001016 [[133135707, 133135752], [133135870, 133135921], [133136110, 133136227], [133137599, 133137702], [133138098, 133138200], [133138618, 133138703]] [[133135907, 133135921], [133136110, 133136227], [133137599, 133137702], [133138098, 133138200], [133138618, 133138681]]
Promoter
Chrom Start End Description
chr6 133135704 133135711 CAGE_peak_1_at_RPS12_5end
chr6 133136126 133136157 CAGE_peak_1_at_SNORD101_5end,CAGE_peak_2_at_RPS12_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I132812 132812151 132817010 2.37 [{'connected_gene': 'RPS12', 'score': 577.57}, {'connected_gene': 'GC06P132818', 'score': 550.77}, {'connected_gene': 'SNORD101', 'score': 550.77}, {'connected_gene': 'SNORA33', 'score': 25.23}, {'connected_gene': 'SLC18B1', 'score': 24.57}, {'connected_gene': 'VNN1', 'score': 7.01}, {'connected_gene': 'GC06P132821', 'score': 0.77}, {'connected_gene': 'PIR38370', 'score': 0.77}, {'connected_gene': 'SNORD100', 'score': 0.77}]
chr6 GH06I132820 132820601 132821530 0.85 [{'connected_gene': 'SLC18B1', 'score': 24.41}, {'connected_gene': 'RPS12', 'score': 10.67}, {'connected_gene': 'SNORA33', 'score': 0.77}, {'connected_gene': 'HMGB1P13', 'score': 0.25}]
chr6 GH06I132669 132669828 132674050 0.92 [{'connected_gene': 'ENSG00000234484', 'score': 11.9}, {'connected_gene': 'VNN2', 'score': 11.64}, {'connected_gene': 'VNN3', 'score': 11.28}, {'connected_gene': 'SNORA33', 'score': 11.27}, {'connected_gene': 'RPS12', 'score': 11.27}, {'connected_gene': 'SNORD101', 'score': 11.27}, {'connected_gene': 'SNORD100', 'score': 11.27}, {'connected_gene': 'SLC18B1', 'score': 10.68}, {'connected_gene': 'VNN1', 'score': 7.83}, {'connected_gene': 'HLFP1', 'score': 0.77}, {'connected_gene': 'TAAR1', 'score': 0.31}]