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
ENST00000304385 [[153539783, 153549713], [153562079, 153562137], [153564239, 153564325], [153565566, 153565594], [153573689, 153573728], [153573818, 153574079], [153601021, 153601317]] [[153549697, 153549713], [153562079, 153562137], [153564239, 153564325], [153565566, 153565594], [153573689, 153573728], [153573818, 153574079], [153601021, 153601085]]
ENST00000510252 [[153549400, 153549713], [153562079, 153562577]] None
ENST00000504064 [[153567709, 153568144], [153573689, 153573728], [153573818, 153574079], [153601021, 153601164]] [[153568130, 153568144], [153573689, 153573728], [153573818, 153574079], [153601021, 153601085]]
NM_152680 [[153547265, 153549713], [153562079, 153562137], [153564239, 153564325], [153565566, 153565594], [153573689, 153573728], [153573818, 153574079], [153601021, 153601317]] [[153549697, 153549713], [153562079, 153562137], [153564239, 153564325], [153565566, 153565594], [153573689, 153573728], [153573818, 153574079], [153601021, 153601085]]
Promoter
Chrom Start End Description
chr4 153601083 153601094 CAGE_peak_3_at_TMEM154_5end
chr4 153601102 153601128 CAGE_peak_1_at_TMEM154_5end
chr4 153601136 153601172 CAGE_peak_2_at_TMEM154_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I152626 152626174 152628570 0.43 [{'connected_gene': 'RPS14P6', 'score': 4.7}, {'connected_gene': 'ENSG00000248571', 'score': 0.28}, {'connected_gene': 'TMEM154', 'score': 0.23}]
chr4 GH04I152633 152633589 152635287 0.89 [{'connected_gene': 'FBXW7', 'score': 11.49}, {'connected_gene': 'RPS14P6', 'score': 0.34}, {'connected_gene': 'ENSG00000248571', 'score': 0.29}, {'connected_gene': 'TMEM154', 'score': 0.25}]
chr4 GH04I152636 152636826 152638359 0.91 [{'connected_gene': 'FBXW7', 'score': 11.67}, {'connected_gene': 'RPS14P6', 'score': 0.34}, {'connected_gene': 'ENSG00000248571', 'score': 0.31}, {'connected_gene': 'TMEM154', 'score': 0.26}]
chr4 GH04I152635 152635601 152636600 0.51 [{'connected_gene': 'FBXW7', 'score': 11.48}, {'connected_gene': 'ENSG00000248571', 'score': 11.19}, {'connected_gene': 'RPS14P6', 'score': 0.34}, {'connected_gene': 'TMEM154', 'score': 0.26}]
chr4 GH04I152509 152509443 152511731 0.63 [{'connected_gene': 'FBXW7', 'score': 12.66}, {'connected_gene': 'TMEM154', 'score': 10.57}, {'connected_gene': 'MIR3140', 'score': 0.34}]
chr4 GH04I152655 152655599 152656709 0.31 [{'connected_gene': 'TMEM154', 'score': 11.5}, {'connected_gene': 'ENSG00000248571', 'score': 0.39}, {'connected_gene': 'RPS14P6', 'score': 0.26}]
chr4 GH04I152719 152719038 152721116 0.59 [{'connected_gene': 'TMEM154', 'score': 11.25}, {'connected_gene': 'ENSG00000248571', 'score': 11.19}, {'connected_gene': 'ARFIP1', 'score': 8.77}, {'connected_gene': 'GC04M152705', 'score': 0.77}, {'connected_gene': 'GC04M152749', 'score': 0.28}]
chr4 GH04I152678 152678240 152678594 0.62 [{'connected_gene': 'TMEM154', 'score': 579.07}, {'connected_gene': 'GC04P152678', 'score': 550.77}, {'connected_gene': 'LOC105377495', 'score': 550.77}, {'connected_gene': 'FBXW7', 'score': 28.91}, {'connected_gene': 'ARFIP1', 'score': 3.63}]
chr4 GH04I152679 152678599 152682833 1.58 [{'connected_gene': 'TMEM154', 'score': 558.0}, {'connected_gene': 'LOC105377495', 'score': 550.77}, {'connected_gene': 'FBXW7', 'score': 10.41}, {'connected_gene': 'GC04P152678', 'score': 0.77}, {'connected_gene': 'GC04M152687', 'score': 0.44}]
chr4 GH04I152695 152695636 152698777 1.18 [{'connected_gene': 'TMEM154', 'score': 6.41}, {'connected_gene': 'GC04M152697', 'score': 0.77}, {'connected_gene': 'PIR59421', 'score': 0.77}]
chr4 GH04I152711 152711776 152712294 0.2 [{'connected_gene': 'TMEM154', 'score': 15.83}, {'connected_gene': 'ENSG00000248571', 'score': 11.47}, {'connected_gene': 'GC04M152705', 'score': 0.77}, {'connected_gene': 'GC04M152697', 'score': 0.39}]
chr4 GH04I152707 152707676 152711181 0.89 [{'connected_gene': 'TMEM154', 'score': 17.39}, {'connected_gene': 'ENSG00000248571', 'score': 11.48}, {'connected_gene': 'GC04M152705', 'score': 0.44}, {'connected_gene': 'GC04M152697', 'score': 0.44}]
chr4 GH04I152642 152642772 152645994 1.22 [{'connected_gene': 'ENSG00000248571', 'score': 11.69}, {'connected_gene': 'RPS14P6', 'score': 0.29}, {'connected_gene': 'TMEM154', 'score': 0.28}]
chr4 GH04I152639 152639411 152641837 0.66 [{'connected_gene': 'ENSG00000248571', 'score': 11.57}, {'connected_gene': 'RPS14P6', 'score': 0.31}, {'connected_gene': 'TMEM154', 'score': 0.28}]
chr4 GH04I152662 152662084 152664612 1.29 [{'connected_gene': 'ENSG00000248571', 'score': 0.77}, {'connected_gene': 'TMEM154', 'score': 0.37}, {'connected_gene': 'RPS14P6', 'score': 0.25}]
chr4 GH04I152665 152665001 152665200 0.4 [{'connected_gene': 'ENSG00000248571', 'score': 550.77}, {'connected_gene': 'TMEM154', 'score': 0.37}, {'connected_gene': 'RPS14P6', 'score': 0.23}]
chr4 GH04I152714 152714849 152715418 0.31 [{'connected_gene': 'GC04M152705', 'score': 550.77}, {'connected_gene': 'ENSG00000248571', 'score': 11.2}, {'connected_gene': 'TMEM154', 'score': 11.06}, {'connected_gene': 'ARFIP1', 'score': 6.51}, {'connected_gene': 'GC04M152697', 'score': 0.37}]
chr4 GH04I152667 152667176 152668950 0.63 [{'connected_gene': 'ENSG00000248571', 'score': 550.77}, {'connected_gene': 'GC04P152678', 'score': 0.39}, {'connected_gene': 'TMEM154', 'score': 0.39}]
chr4 GH04I152693 152693811 152695176 0.2 [{'connected_gene': 'PIR59421', 'score': 550.77}, {'connected_gene': 'ENSG00000248571', 'score': 11.53}, {'connected_gene': 'TMEM154', 'score': 9.11}, {'connected_gene': 'GC04M152697', 'score': 0.44}]
chr4 GH04I152673 152673248 152674679 0.4 [{'connected_gene': 'GC04P152678', 'score': 0.77}, {'connected_gene': 'TMEM154', 'score': 0.44}, {'connected_gene': 'ENSG00000248571', 'score': 0.44}]
chr4 GH04I152713 152713875 152714561 0.43 [{'connected_gene': 'GC04M152705', 'score': 550.77}, {'connected_gene': 'ENSG00000248571', 'score': 11.2}, {'connected_gene': 'TMEM154', 'score': 11.06}, {'connected_gene': 'GC04M152697', 'score': 0.39}]
chr4 GH04I152700 152700169 152700666 0.92 [{'connected_gene': 'GC04M152697', 'score': 550.77}, {'connected_gene': 'TMEM154', 'score': 12.06}, {'connected_gene': 'GC04M152705', 'score': 0.37}]
chr4 GH04I152675 152675629 152676578 0.77 [{'connected_gene': 'GC04P152678', 'score': 0.77}, {'connected_gene': 'TMEM154', 'score': 0.77}, {'connected_gene': 'ENSG00000248571', 'score': 0.44}]