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
ENST00000555414 [[20923349, 20923497], [20923736, 20923862], [20924072, 20924260], [20924826, 20925019], [20925149, 20925927]] [[20923804, 20923862], [20924072, 20924260], [20924826, 20925019], [20925149, 20925667]]
ENST00000216714 [[20923353, 20923553], [20923736, 20923862], [20924072, 20924260], [20924826, 20925019], [20925149, 20925926]] [[20923804, 20923862], [20924072, 20924260], [20924826, 20925019], [20925149, 20925667]]
ENST00000553681 [[20923359, 20923399], [20923736, 20923862], [20924072, 20924260], [20924826, 20925019], [20925149, 20925501]] [[20923804, 20923862], [20924072, 20924260], [20924826, 20925019], [20925149, 20925501]]
ENST00000554813 [[20923373, 20923497], [20924072, 20924260], [20924826, 20925019], [20925149, 20925298]] None
ENST00000556296 [[20923377, 20923862], [20923960, 20924046]] None
ENST00000557344 [[20923384, 20923548], [20923736, 20923862], [20924072, 20924260], [20924826, 20925019]] [[20923804, 20923862], [20924072, 20924260], [20924826, 20925019]]
ENST00000555306 [[20923384, 20923553], [20923736, 20924260], [20924826, 20925019], [20925149, 20925161]] None
ENST00000553555 [[20923384, 20923862], [20924072, 20924260], [20924826, 20925019], [20925149, 20925893]] None
ENST00000398030 [[20923384, 20923487], [20923736, 20923862], [20924072, 20924260], [20924826, 20925019], [20925149, 20925926]] [[20923804, 20923862], [20924072, 20924260], [20924826, 20925019], [20925149, 20925667]]
ENST00000554325 [[20923385, 20923553], [20923736, 20923932], [20924072, 20924260], [20924826, 20924842]] [[20923804, 20923932], [20924072, 20924094]]
ENST00000557181 [[20923385, 20923560], [20923736, 20923862], [20924072, 20924260], [20924826, 20924903]] [[20923804, 20923862], [20924072, 20924260], [20924826, 20924903]]
ENST00000555839 [[20923397, 20923553], [20923736, 20923862], [20924072, 20924260], [20924826, 20925019], [20925236, 20925525]] [[20923804, 20923862], [20924072, 20924260], [20924826, 20925019], [20925236, 20925525]]
ENST00000557159 [[20923398, 20924260], [20924826, 20925019], [20925149, 20925897]] None
ENST00000553368 [[20923403, 20923553], [20923896, 20923932], [20924072, 20924190]] [[20923925, 20923932], [20924072, 20924190]]
ENST00000556054 [[20923405, 20923587], [20923736, 20923862], [20924072, 20924260], [20924826, 20925019], [20925149, 20925233]] [[20923804, 20923862], [20924072, 20924260], [20924826, 20925019], [20925149, 20925233]]
ENST00000557054 [[20923405, 20923553], [20923736, 20923831], [20925281, 20925926]] [[20923804, 20923831], [20925281, 20925299]]
ENST00000557592 [[20923406, 20923497], [20923893, 20923932], [20924072, 20924260], [20924826, 20925019], [20925149, 20925278]] [[20923925, 20923932], [20924072, 20924260], [20924826, 20925019], [20925149, 20925278]]
ENST00000557365 [[20923415, 20923553], [20924072, 20924260], [20924826, 20925019], [20925149, 20925461]] None
ENST00000557150 [[20923423, 20923487], [20923736, 20923932], [20924072, 20924260], [20924826, 20925019], [20925149, 20925248]] [[20923925, 20923932], [20924072, 20924260], [20924826, 20925019], [20925149, 20925248]]
ENST00000438886 [[20924165, 20924260], [20924826, 20925019], [20925218, 20925381]] [[20924165, 20924260], [20924826, 20925019], [20925218, 20925381]]
NM_080648 [[20923289, 20923487], [20923736, 20923862], [20924072, 20924260], [20924826, 20925019], [20925149, 20925931]] [[20923804, 20923862], [20924072, 20924260], [20924826, 20925019], [20925149, 20925667]]
NM_080649 [[20923289, 20923497], [20923736, 20923862], [20924072, 20924260], [20924826, 20925019], [20925149, 20925931]] [[20923804, 20923862], [20924072, 20924260], [20924826, 20925019], [20925149, 20925667]]
NM_001244249 [[20923289, 20923548], [20923736, 20923862], [20924072, 20924260], [20924826, 20925019], [20925149, 20925931]] [[20923804, 20923862], [20924072, 20924260], [20924826, 20925019], [20925149, 20925667]]
NM_001641 [[20923289, 20923553], [20923736, 20923862], [20924072, 20924260], [20924826, 20925019], [20925149, 20925931]] [[20923804, 20923862], [20924072, 20924260], [20924826, 20925019], [20925149, 20925667]]
Promoter
Chrom Start End Description
chr14 20923369 20923418 CAGE_peak_1_at_APEX1_5end
chr14 20923655 20923753 CAGE_peak_2_at_APEX1_5end
chr14 20923759 20923779 CAGE_peak_3_at_APEX1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I020489 20487482 20487631 0.31 [{'connected_gene': 'PIP4P1', 'score': 11.53}, {'connected_gene': 'APEX1', 'score': 11.25}, {'connected_gene': 'OSGEP', 'score': 11.25}, {'connected_gene': 'RNA5SP382', 'score': 11.1}, {'connected_gene': 'TEP1', 'score': 11.1}, {'connected_gene': 'ENSG00000258908', 'score': 0.39}, {'connected_gene': 'RNASE10', 'score': 0.37}]
chr14 GH14I020487 20486062 20486211 0.31 [{'connected_gene': 'PIP4P1', 'score': 11.56}, {'connected_gene': 'RNASE11', 'score': 11.47}, {'connected_gene': 'APEX1', 'score': 11.25}, {'connected_gene': 'OSGEP', 'score': 11.25}, {'connected_gene': 'RNA5SP382', 'score': 10.56}, {'connected_gene': 'TEP1', 'score': 10.56}, {'connected_gene': 'ENSG00000258908', 'score': 0.44}, {'connected_gene': 'RNASE10', 'score': 0.37}]
chr14 GH14I020459 20459546 20463381 2.3 [{'connected_gene': 'PIP4P1', 'score': 561.03}, {'connected_gene': 'SUPT16H', 'score': 34.78}, {'connected_gene': 'METTL17', 'score': 28.96}, {'connected_gene': 'TEP1', 'score': 24.99}, {'connected_gene': 'CHD8', 'score': 22.62}, {'connected_gene': 'ENSG00000258515', 'score': 13.45}, {'connected_gene': 'RNA5SP382', 'score': 11.2}, {'connected_gene': 'APEX1', 'score': 10.8}, {'connected_gene': 'ZNF219', 'score': 10.17}]
chr14 GH14I020331 20331600 20334178 2.02 [{'connected_gene': 'CCNB1IP1', 'score': 560.83}, {'connected_gene': 'HNRNPC', 'score': 15.38}, {'connected_gene': 'APEX1', 'score': 9.78}, {'connected_gene': 'ENSG00000258768', 'score': 6.4}, {'connected_gene': 'GC14M020327', 'score': 0.44}, {'connected_gene': 'SNORD126', 'score': 0.44}]
chr14 GH14I020426 20426762 20429453 1.49 [{'connected_gene': 'OSGEP', 'score': 19.2}, {'connected_gene': 'PNP', 'score': 16.34}, {'connected_gene': 'PIP4P1', 'score': 14.57}, {'connected_gene': 'APEX1', 'score': 12.05}, {'connected_gene': 'RNASE11', 'score': 11.1}, {'connected_gene': 'TEP1', 'score': 7.2}, {'connected_gene': 'KLHL33', 'score': 5.76}, {'connected_gene': 'RNASE6', 'score': 1.85}, {'connected_gene': 'RNASE3', 'score': 1.39}, {'connected_gene': 'GC14P020415', 'score': 0.39}]
chr14 GH14I020453 20453599 20457486 2.12 [{'connected_gene': 'OSGEP', 'score': 609.68}, {'connected_gene': 'APEX1', 'score': 598.25}, {'connected_gene': 'SUPT16H', 'score': 100.91}, {'connected_gene': 'METTL17', 'score': 100.48}, {'connected_gene': 'ENSG00000258515', 'score': 70.52}, {'connected_gene': 'TEP1', 'score': 42.76}, {'connected_gene': 'TTC5', 'score': 20.43}, {'connected_gene': 'PIP4P1', 'score': 19.81}, {'connected_gene': 'ZNF219', 'score': 18.84}, {'connected_gene': 'PNP', 'score': 14.42}, {'connected_gene': 'ENSG00000258768', 'score': 9.8}, {'connected_gene': 'CCNB1IP1', 'score': 9.76}]
chr14 GH14I020486 20486811 20487351 0.54 [{'connected_gene': 'PNP', 'score': 15.05}, {'connected_gene': 'PIP4P1', 'score': 11.53}, {'connected_gene': 'APEX1', 'score': 11.25}, {'connected_gene': 'OSGEP', 'score': 11.25}, {'connected_gene': 'RNA5SP382', 'score': 10.24}, {'connected_gene': 'TEP1', 'score': 10.24}, {'connected_gene': 'ENSG00000258908', 'score': 0.44}, {'connected_gene': 'RNASE10', 'score': 0.37}]
chr14 GH14I020468 20468756 20474701 2.28 [{'connected_gene': 'PNP', 'score': 45.79}, {'connected_gene': 'SUPT16H', 'score': 45.06}, {'connected_gene': 'METTL17', 'score': 37.14}, {'connected_gene': 'TEP1', 'score': 33.04}, {'connected_gene': 'CHD8', 'score': 27.79}, {'connected_gene': 'APEX1', 'score': 18.05}, {'connected_gene': 'HNRNPC', 'score': 15.38}, {'connected_gene': 'ENSG00000260830', 'score': 12.65}, {'connected_gene': 'TTC5', 'score': 12.61}, {'connected_gene': 'RNASE10', 'score': 11.26}, {'connected_gene': 'RNA5SP382', 'score': 10.95}, {'connected_gene': 'CCNB1IP1', 'score': 10.48}, {'connected_gene': 'SNORD126', 'score': 10.47}, {'connected_gene': 'GC14P020476', 'score': 0.77}, {'connected_gene': 'GC14P020477', 'score': 0.77}]
chr14 GH14I021092 21092263 21110589 2.82 [{'connected_gene': 'ZNF219', 'score': 550.77}, {'connected_gene': 'TMEM253', 'score': 550.77}, {'connected_gene': 'METTL3', 'score': 57.68}, {'connected_gene': 'METTL17', 'score': 54.87}, {'connected_gene': 'SUPT16H', 'score': 48.9}, {'connected_gene': 'CHD8', 'score': 42.94}, {'connected_gene': 'TEP1', 'score': 24.51}, {'connected_gene': 'APEX1', 'score': 15.54}, {'connected_gene': 'PNP', 'score': 14.05}, {'connected_gene': 'ARHGEF40', 'score': 12.06}, {'connected_gene': 'SNORA79B', 'score': 9.89}, {'connected_gene': 'OR11H7', 'score': 4.6}, {'connected_gene': 'GC14M021101', 'score': 0.77}, {'connected_gene': 'PIR44581', 'score': 0.44}, {'connected_gene': 'ENSG00000178107', 'score': 0.44}, {'connected_gene': 'CKAP2P1', 'score': 0.39}]
chr14 GH14I020424 20424187 20425785 0.2 [{'connected_gene': 'APEX1', 'score': 11.92}, {'connected_gene': 'OSGEP', 'score': 11.92}, {'connected_gene': 'PIP4P1', 'score': 11.9}, {'connected_gene': 'PNP', 'score': 10.97}, {'connected_gene': 'RNASE11', 'score': 10.58}, {'connected_gene': 'TEP1', 'score': 7.07}, {'connected_gene': 'KLHL33', 'score': 5.59}, {'connected_gene': 'GC14P020415', 'score': 0.44}]
chr14 GH14I020819 20819910 20822472 1.25 [{'connected_gene': 'HNRNPC', 'score': 15.4}, {'connected_gene': 'EDDM3B', 'score': 11.8}, {'connected_gene': 'RNASE6', 'score': 11.13}, {'connected_gene': 'ENSG00000178107', 'score': 10.35}, {'connected_gene': 'SUPT16H', 'score': 10.28}, {'connected_gene': 'CHD8', 'score': 9.83}, {'connected_gene': 'APEX1', 'score': 9.71}, {'connected_gene': 'GC14P020814', 'score': 0.44}, {'connected_gene': 'ENSG00000259130', 'score': 0.23}]
chr14 GH14I021263 21263242 21270866 2.49 [{'connected_gene': 'HNRNPC', 'score': 566.13}, {'connected_gene': 'SUPT16H', 'score': 57.4}, {'connected_gene': 'METTL3', 'score': 52.13}, {'connected_gene': 'CHD8', 'score': 37.22}, {'connected_gene': 'METTL17', 'score': 24.53}, {'connected_gene': 'ENSG00000258515', 'score': 14.67}, {'connected_gene': 'PIP4P1', 'score': 10.82}, {'connected_gene': 'RAB2B', 'score': 10.34}, {'connected_gene': 'APEX1', 'score': 9.68}, {'connected_gene': 'TRAV8-5', 'score': 5.61}, {'connected_gene': 'TOX4', 'score': 4.47}, {'connected_gene': 'GC14P021259', 'score': 0.44}]
chr14 GH14I021381 21381781 21386117 2.1 [{'connected_gene': 'SUPT16H', 'score': 572.48}, {'connected_gene': 'ENSG00000260830', 'score': 550.77}, {'connected_gene': 'METTL17', 'score': 32.86}, {'connected_gene': 'METTL3', 'score': 28.8}, {'connected_gene': 'TEP1', 'score': 24.51}, {'connected_gene': 'CHD8', 'score': 20.16}, {'connected_gene': 'APEX1', 'score': 15.54}, {'connected_gene': 'TOX4', 'score': 8.34}, {'connected_gene': 'GC14M021386', 'score': 0.77}, {'connected_gene': 'MRPS17P6', 'score': 0.16}]
chr14 GH14I020341 20341709 20344698 2.1 [{'connected_gene': 'PARP2', 'score': 582.44}, {'connected_gene': 'RPPH1', 'score': 550.77}, {'connected_gene': 'ENSG00000259001', 'score': 550.77}, {'connected_gene': 'METTL17', 'score': 32.29}, {'connected_gene': 'ENSG00000258768', 'score': 22.92}, {'connected_gene': 'TEP1', 'score': 22.28}, {'connected_gene': 'ENSG00000258515', 'score': 21.78}, {'connected_gene': 'PIP4P1', 'score': 21.29}, {'connected_gene': 'APEX1', 'score': 17.82}, {'connected_gene': 'HNRNPC', 'score': 15.38}, {'connected_gene': 'ENSG00000254846', 'score': 0.77}, {'connected_gene': 'CCNB1IP1', 'score': 0.44}]
chr14 GH14I020657 20657201 20658253 1.2 [{'connected_gene': 'TRY-GTA4-1', 'score': 550.77}, {'connected_gene': 'METTL3', 'score': 77.67}, {'connected_gene': 'SUPT16H', 'score': 63.34}, {'connected_gene': 'METTL17', 'score': 47.65}, {'connected_gene': 'ENSG00000258515', 'score': 44.33}, {'connected_gene': 'PARP2', 'score': 35.88}, {'connected_gene': 'TTC5', 'score': 33.01}, {'connected_gene': 'CHD8', 'score': 29.8}, {'connected_gene': 'RAB2B', 'score': 28.62}, {'connected_gene': 'ENSG00000258768', 'score': 28.21}, {'connected_gene': 'OSGEP', 'score': 22.97}, {'connected_gene': 'TEP1', 'score': 22.29}, {'connected_gene': 'PIP4P1', 'score': 19.79}, {'connected_gene': 'LINC00641', 'score': 15.57}, {'connected_gene': 'ENSG00000260830', 'score': 12.65}, {'connected_gene': 'ANG', 'score': 11.61}, {'connected_gene': 'CCNB1IP1', 'score': 10.82}, {'connected_gene': 'SNORA79B', 'score': 10.05}, {'connected_gene': 'APEX1', 'score': 9.77}, {'connected_gene': 'TRY-GTA7-1', 'score': 0.77}]
chr14 GH14I020612 20612050 20615363 1.3 [{'connected_gene': 'TRP-AGG2-6', 'score': 550.77}, {'connected_gene': 'TRT-TGT3-1', 'score': 550.77}, {'connected_gene': 'GC14M020645', 'score': 550.77}, {'connected_gene': 'ENSG00000258515', 'score': 41.93}, {'connected_gene': 'METTL3', 'score': 38.68}, {'connected_gene': 'SUPT16H', 'score': 31.99}, {'connected_gene': 'PARP2', 'score': 31.87}, {'connected_gene': 'ENSG00000258768', 'score': 27.76}, {'connected_gene': 'CHD8', 'score': 25.02}, {'connected_gene': 'OSGEP', 'score': 24.4}, {'connected_gene': 'TTC5', 'score': 21.97}, {'connected_gene': 'PIP4P1', 'score': 19.86}, {'connected_gene': 'METTL17', 'score': 16.21}, {'connected_gene': 'ENSG00000260830', 'score': 12.65}, {'connected_gene': 'RAB2B', 'score': 10.93}, {'connected_gene': 'APEX1', 'score': 9.73}]
chr14 GH14I020475 20475936 20479318 1.24 [{'connected_gene': 'GC14P020476', 'score': 550.77}, {'connected_gene': 'GC14P020477', 'score': 550.77}, {'connected_gene': 'ENSG00000258908', 'score': 550.77}, {'connected_gene': 'RNASE10', 'score': 12.08}, {'connected_gene': 'APEX1', 'score': 11.61}, {'connected_gene': 'OSGEP', 'score': 11.61}, {'connected_gene': 'RNA5SP382', 'score': 11.3}, {'connected_gene': 'TEP1', 'score': 11.3}, {'connected_gene': 'RNASE11', 'score': 11.05}, {'connected_gene': 'PNP', 'score': 10.8}]
chr14 GH14I020622 20622801 20626696 1.24 [{'connected_gene': 'GC14P020627', 'score': 550.77}, {'connected_gene': 'TRL-TAG2-1', 'score': 550.77}, {'connected_gene': 'PIR59363', 'score': 550.77}, {'connected_gene': 'METTL3', 'score': 88.47}, {'connected_gene': 'SUPT16H', 'score': 70.11}, {'connected_gene': 'METTL17', 'score': 61.1}, {'connected_gene': 'ENSG00000258515', 'score': 58.38}, {'connected_gene': 'CHD8', 'score': 55.58}, {'connected_gene': 'PARP2', 'score': 44.51}, {'connected_gene': 'TEP1', 'score': 44.16}, {'connected_gene': 'ENSG00000258768', 'score': 30.24}, {'connected_gene': 'OSGEP', 'score': 24.71}, {'connected_gene': 'APEX1', 'score': 21.77}, {'connected_gene': 'PIP4P1', 'score': 19.85}, {'connected_gene': 'TOX4', 'score': 13.64}, {'connected_gene': 'SALL2', 'score': 12.58}, {'connected_gene': 'ANG', 'score': 12.21}, {'connected_gene': 'TTC5', 'score': 11.2}, {'connected_gene': 'HNRNPC', 'score': 10.97}, {'connected_gene': 'SNORA79B', 'score': 10.05}, {'connected_gene': 'RPS26P9', 'score': 0.44}]

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