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
ENST00000425792 [[23244510, 23244753], [23250182, 23250366], [23258752, 23258803], [23541098, 23541231], [23574044, 23574192], [23631224, 23631713]] [[23250190, 23250366], [23258752, 23258803], [23541098, 23541231], [23574044, 23574192], [23631224, 23631322]]
ENST00000452894 [[23244590, 23244753], [23250182, 23250366], [23258752, 23258803], [23365005, 23365077], [23541098, 23541231], [23574044, 23574106]] [[23250190, 23250366], [23258752, 23258803], [23365005, 23365077], [23541098, 23541231], [23574044, 23574106]]
ENST00000335798 [[23244652, 23244753], [23250182, 23250366], [23258752, 23258803], [23574044, 23574192], [23631224, 23632070]] [[23250190, 23250366], [23258752, 23258803], [23574044, 23574096]]
ENST00000396703 [[23244783, 23244955], [23250182, 23250366], [23258752, 23258803], [23541098, 23541231], [23574044, 23574192], [23631224, 23633284]] [[23250190, 23250366], [23258752, 23258803], [23541098, 23541231], [23574044, 23574192], [23631224, 23631322]]
ENST00000427371 [[23244820, 23244955], [23250182, 23250366], [23258752, 23258803], [23312440, 23312649]] [[23250190, 23250366], [23258752, 23258803], [23312440, 23312483]]
NM_152653 [[23244783, 23244955], [23250182, 23250366], [23258752, 23258803], [23541098, 23541231], [23574044, 23574192], [23631224, 23632296]] [[23250190, 23250366], [23258752, 23258803], [23541098, 23541231], [23574044, 23574192], [23631224, 23631322]]
Promoter
Chrom Start End Description
chr3 23244513 23244528 CAGE_peak_4_at_UBE2E2_5end
chr3 23244579 23244630 CAGE_peak_1_at_UBE2E2_5end
chr3 23244641 23244683 CAGE_peak_2_at_UBE2E2_5end
chr3 23244780 23244837 CAGE_peak_3_at_UBE2E2_5end
chr3 23244863 23244880 CAGE_peak_5_at_UBE2E2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I023440 23440801 23441000 0.2 [{'connected_gene': 'UBE2E2', 'score': 5.47}, {'connected_gene': 'LOC105376991', 'score': 0.34}, {'connected_gene': 'GC03M023442', 'score': 0.31}]
chr3 GH03I023202 23202294 23204801 1.93 [{'connected_gene': 'UBE2E2', 'score': 557.12}, {'connected_gene': 'UBE2E2-AS1', 'score': 550.77}, {'connected_gene': 'HMGB1P5', 'score': 5.01}, {'connected_gene': 'PIR45638', 'score': 0.2}]
chr3 GH03I023159 23159599 23160650 1.12 [{'connected_gene': 'UBE2E2', 'score': 17.88}, {'connected_gene': 'UBE2E2-AS1', 'score': 11.64}, {'connected_gene': 'PIR39843', 'score': 0.39}, {'connected_gene': 'RPL24P7', 'score': 0.31}]
chr3 GH03I023162 23162970 23163119 0.43 [{'connected_gene': 'UBE2E2', 'score': 11.01}, {'connected_gene': 'UBE2E2-AS1', 'score': 11.0}, {'connected_gene': 'PIR39843', 'score': 0.44}, {'connected_gene': 'RPL24P7', 'score': 0.31}]
chr3 GH03I023254 23254601 23255000 0.43 [{'connected_gene': 'UBE2E2', 'score': 5.03}, {'connected_gene': 'UBE2E2-AS1', 'score': 4.42}, {'connected_gene': 'PIR45638', 'score': 0.37}, {'connected_gene': 'GC03M023245', 'score': 0.34}]
chr3 GH03I023074 23074606 23076298 0.43 [{'connected_gene': 'UBE2E2', 'score': 8.48}, {'connected_gene': 'RPL24P7', 'score': 0.22}, {'connected_gene': 'SALL4P5', 'score': 0.17}]
chr3 GH03I023113 23113896 23114159 0.98 [{'connected_gene': 'UBE2E2', 'score': 2.4}, {'connected_gene': 'RPL24P7', 'score': 0.34}, {'connected_gene': 'SALL4P5', 'score': 0.13}]
chr3 GH03I023070 23070810 23072800 0.69 [{'connected_gene': 'UBE2E2', 'score': 6.98}, {'connected_gene': 'RPL24P7', 'score': 0.21}, {'connected_gene': 'SALL4P5', 'score': 0.18}]
chr3 GH03I023128 23128891 23130599 0.68 [{'connected_gene': 'UBE2E2', 'score': 6.12}, {'connected_gene': 'RPL24P7', 'score': 0.77}, {'connected_gene': 'SALL4P5', 'score': 0.12}]
chr3 GH03I022980 22980352 22981775 0.52 [{'connected_gene': 'UBE2E2', 'score': 9.63}, {'connected_gene': 'SALL4P5', 'score': 0.44}, {'connected_gene': 'RANP7', 'score': 0.18}]
chr3 GH03I023041 23041711 23043413 0.2 [{'connected_gene': 'UBE2E2', 'score': 9.29}, {'connected_gene': 'SALL4P5', 'score': 0.23}, {'connected_gene': 'RPL24P7', 'score': 0.16}]
chr3 GH03I023035 23035766 23037692 0.87 [{'connected_gene': 'UBE2E2', 'score': 9.74}, {'connected_gene': 'SALL4P5', 'score': 0.25}, {'connected_gene': 'RPL24P7', 'score': 0.15}]
chr3 GH03I023567 23567373 23568637 0.72 [{'connected_gene': 'UBE2E2', 'score': 7.04}, {'connected_gene': 'PIR46278', 'score': 0.26}, {'connected_gene': 'GC03P023480', 'score': 0.17}]
chr3 GH03I023566 23566747 23567088 0.2 [{'connected_gene': 'UBE2E2', 'score': 5.2}, {'connected_gene': 'PIR46278', 'score': 0.26}, {'connected_gene': 'GC03P023480', 'score': 0.17}]
chr3 GH03I023312 23312423 23314046 0.2 [{'connected_gene': 'UBE2E2', 'score': 6.63}, {'connected_gene': 'GC03M023245', 'score': 0.28}, {'connected_gene': 'ENSG00000228171', 'score': 0.18}]
chr3 GH03I023599 23599497 23601996 0.67 [{'connected_gene': 'UBE2E2', 'score': 7.47}, {'connected_gene': 'PIR46278', 'score': 0.44}, {'connected_gene': 'GC03P023480', 'score': 0.13}]
chr3 GH03I023441 23440401 23440600 0.31 [{'connected_gene': 'LOC105376991', 'score': 0.34}, {'connected_gene': 'GC03M023442', 'score': 0.31}, {'connected_gene': 'UBE2E2', 'score': 0.07}]
chr3 GH03I023580 23580490 23580659 0.7 [{'connected_gene': 'UBE2E1-AS1', 'score': 9.97}, {'connected_gene': 'UBE2E1', 'score': 9.97}, {'connected_gene': 'PIR46278', 'score': 0.31}, {'connected_gene': 'GC03P023480', 'score': 0.15}, {'connected_gene': 'UBE2E2', 'score': 0.05}]
chr3 GH03I023164 23164987 23165008 0.26 [{'connected_gene': 'UBE2E2-AS1', 'score': 11.49}, {'connected_gene': 'UBE2E2', 'score': 11.49}, {'connected_gene': 'PIR39843', 'score': 0.44}, {'connected_gene': 'RPL24P7', 'score': 0.29}]
chr3 GH03I023263 23263484 23265311 0.43 [{'connected_gene': 'UBE2E2-AS1', 'score': 15.84}, {'connected_gene': 'UBE2E2', 'score': 11.07}, {'connected_gene': 'PIR45638', 'score': 0.44}, {'connected_gene': 'GC03M023245', 'score': 0.39}]
chr3 GH03I023220 23220801 23222200 0.63 [{'connected_gene': 'UBE2E2-AS1', 'score': 0.37}, {'connected_gene': 'UBE2E2', 'score': 0.37}, {'connected_gene': 'PIR45638', 'score': 0.25}]
chr3 GH03I023219 23219092 23220036 0.69 [{'connected_gene': 'UBE2E2-AS1', 'score': 0.37}, {'connected_gene': 'UBE2E2', 'score': 0.37}, {'connected_gene': 'PIR45638', 'score': 0.23}]
chr3 GH03I022713 22713996 22714179 0.85 [{'connected_gene': 'ENSG00000234723', 'score': 16.1}, {'connected_gene': 'UBE2E2', 'score': 1.29}, {'connected_gene': 'GC03P022706', 'score': 0.44}, {'connected_gene': 'LOC100421669', 'score': 0.15}]
chr3 GH03I023389 23389772 23389988 0.35 [{'connected_gene': 'ENSG00000228171', 'score': 550.77}, {'connected_gene': 'GC03M023245', 'score': 0.14}, {'connected_gene': 'UBE2E2', 'score': 0.09}]
chr3 GH03I023348 23348344 23348707 0.25 [{'connected_gene': 'ENSG00000228171', 'score': 0.26}, {'connected_gene': 'GC03M023245', 'score': 0.19}, {'connected_gene': 'UBE2E2', 'score': 0.11}]
chr3 GH03I023390 23389210 23389359 0.43 [{'connected_gene': 'ENSG00000228171', 'score': 550.77}, {'connected_gene': 'GC03M023245', 'score': 0.14}, {'connected_gene': 'UBE2E2', 'score': 0.09}]
chr3 GH03I023324 23324390 23325809 0.88 [{'connected_gene': 'GC03M023245', 'score': 0.25}, {'connected_gene': 'ENSG00000228171', 'score': 0.21}, {'connected_gene': 'UBE2E2', 'score': 0.13}]
chr3 GH03I023590 23590659 23590759 0.65 [{'connected_gene': 'PIR46278', 'score': 0.37}, {'connected_gene': 'GC03P023480', 'score': 0.14}, {'connected_gene': 'UBE2E2', 'score': 0.05}]
chr3 GH03I023341 23341201 23342000 0.43 [{'connected_gene': 'ENSG00000228171', 'score': 0.25}, {'connected_gene': 'GC03M023245', 'score': 0.21}, {'connected_gene': 'UBE2E2', 'score': 0.12}]
chr3 GH03I023501 23501590 23501739 0.49 [{'connected_gene': 'GC03P023480', 'score': 0.34}, {'connected_gene': 'PIR46278', 'score': 0.14}, {'connected_gene': 'UBE2E2', 'score': 0.06}]