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
ENST00000397762 [[21927178, 21929462], [21930508, 21930577], [21931814, 21931926], [21936515, 21936608], [21936828, 21936911], [21943025, 21943093], [21944686, 21944758], [21944985, 21945132]] [[21929354, 21929462], [21930508, 21930577], [21931814, 21931926], [21936515, 21936608], [21936828, 21936911], [21943025, 21943093], [21944686, 21944758], [21944985, 21945031]]
ENST00000417141 [[21929356, 21929462], [21930508, 21930577], [21931814, 21931926], [21943025, 21943093], [21944686, 21944758], [21944985, 21945117]] [[21931923, 21931926], [21943025, 21943093], [21944686, 21944758], [21944985, 21945031]]
ENST00000461909 [[21929403, 21929462], [21930508, 21930577], [21931814, 21931926], [21936515, 21936608], [21936828, 21936911], [21943025, 21943093], [21944686, 21944832]] None
ENST00000475857 [[21942678, 21943093], [21944686, 21944758], [21944985, 21945119]] None
ENST00000485996 [[21944425, 21944758], [21944985, 21945095]] None
NM_001163380 [[21927178, 21929462], [21930508, 21930577], [21931814, 21931926], [21936515, 21936608], [21936828, 21936911], [21943025, 21943093], [21944686, 21944832]] [[21929354, 21929462], [21930508, 21930577], [21931814, 21931926], [21936515, 21936608], [21936828, 21936911], [21943025, 21943073]]
NM_032846 [[21927178, 21929462], [21930508, 21930577], [21931814, 21931926], [21936515, 21936608], [21936828, 21936911], [21943025, 21943093], [21944686, 21944758], [21944985, 21945132]] [[21929354, 21929462], [21930508, 21930577], [21931814, 21931926], [21936515, 21936608], [21936828, 21936911], [21943025, 21943093], [21944686, 21944758], [21944985, 21945031]]
NR_028074 [[21927178, 21929462], [21930508, 21930577], [21931814, 21931926], [21936515, 21936608], [21936828, 21936867], [21943025, 21943093], [21944686, 21944758], [21944985, 21945132]] None
Promoter
Chrom Start End Description
chr14 21944768 21944778 CAGE_peak_5_at_RAB2B_5end
chr14 21944781 21944792 CAGE_peak_4_at_RAB2B_5end
chr14 21944795 21944848 CAGE_peak_2_at_RAB2B_5end
chr14 21945033 21945056 CAGE_peak_3_at_RAB2B_5end
chr14 21945057 21945132 CAGE_peak_1_at_RAB2B_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I021475 21475633 21478499 2.08 [{'connected_gene': 'TOX4', 'score': 563.11}, {'connected_gene': 'RAB2B', 'score': 560.15}, {'connected_gene': 'METTL17', 'score': 32.52}, {'connected_gene': 'METTL3', 'score': 31.08}, {'connected_gene': 'SUPT16H', 'score': 27.8}, {'connected_gene': 'CHD8', 'score': 23.35}, {'connected_gene': 'PIR42881', 'score': 0.31}]
chr14 GH14I021495 21495542 21495651 0.52 [{'connected_gene': 'TOX4', 'score': 13.65}, {'connected_gene': 'PIR42881', 'score': 0.44}, {'connected_gene': 'RAB2B', 'score': 0.37}]
chr14 GH14I021466 21466986 21468218 0.38 [{'connected_gene': 'UBA52P2', 'score': 10.63}, {'connected_gene': 'SNORD8', 'score': 10.62}, {'connected_gene': 'SNORD9', 'score': 10.61}, {'connected_gene': 'SALL2', 'score': 10.35}, {'connected_gene': 'RAB2B', 'score': 8.47}, {'connected_gene': 'TOX4', 'score': 0.44}, {'connected_gene': 'CHD8', 'score': 0.39}]
chr14 GH14I020679 20679641 20689424 2.67 [{'connected_gene': 'RNASE4', 'score': 570.03}, {'connected_gene': 'ANG', 'score': 556.76}, {'connected_gene': 'TRP-TGG3-2', 'score': 550.77}, {'connected_gene': 'TRY-GTA5-5', 'score': 550.77}, {'connected_gene': 'PIR55020', 'score': 550.77}, {'connected_gene': 'ENSG00000259171', 'score': 550.77}, {'connected_gene': 'METTL3', 'score': 44.55}, {'connected_gene': 'ENSG00000258515', 'score': 38.75}, {'connected_gene': 'SUPT16H', 'score': 36.21}, {'connected_gene': 'CHD8', 'score': 32.71}, {'connected_gene': 'PARP2', 'score': 31.86}, {'connected_gene': 'TTC5', 'score': 21.96}, {'connected_gene': 'PIP4P1', 'score': 20.78}, {'connected_gene': 'ENSG00000258768', 'score': 18.52}, {'connected_gene': 'OSGEP', 'score': 16.13}, {'connected_gene': 'PNP', 'score': 15.64}, {'connected_gene': 'LINC00641', 'score': 15.57}, {'connected_gene': 'METTL17', 'score': 15.06}, {'connected_gene': 'TEP1', 'score': 14.24}, {'connected_gene': 'ENSG00000260830', 'score': 12.65}, {'connected_gene': 'RAB2B', 'score': 10.93}, {'connected_gene': 'ENSG00000259001', 'score': 5.03}, {'connected_gene': 'ZNF219', 'score': 3.58}, {'connected_gene': 'NDRG2', 'score': 1.44}, {'connected_gene': 'ARHGEF40', 'score': 1.39}, {'connected_gene': 'GC14P020760', 'score': 0.77}, {'connected_gene': 'TRT-TGT5-1', 'score': 0.77}, {'connected_gene': 'PIR37991', 'score': 0.77}]
chr14 GH14I021486 21486406 21487183 0.31 [{'connected_gene': 'CHD8', 'score': 11.67}, {'connected_gene': 'ENSG00000257096', 'score': 11.65}, {'connected_gene': 'SALL2', 'score': 11.59}, {'connected_gene': 'UBA52P2', 'score': 9.98}, {'connected_gene': 'SNORD8', 'score': 9.98}, {'connected_gene': 'SNORD9', 'score': 9.97}, {'connected_gene': 'TOX4', 'score': 7.61}, {'connected_gene': 'RAB2B', 'score': 0.44}, {'connected_gene': 'PIR42881', 'score': 0.37}]
chr14 GH14I021454 21454547 21457467 1.55 [{'connected_gene': 'CHD8', 'score': 560.57}, {'connected_gene': 'SUPT16H', 'score': 19.91}, {'connected_gene': 'HNRNPC', 'score': 15.44}, {'connected_gene': 'PNP', 'score': 14.05}, {'connected_gene': 'METTL3', 'score': 11.13}, {'connected_gene': 'UBA52P2', 'score': 11.02}, {'connected_gene': 'SNORD8', 'score': 11.02}, {'connected_gene': 'SNORD9', 'score': 11.0}, {'connected_gene': 'ENSG00000257096', 'score': 10.6}, {'connected_gene': 'SALL2', 'score': 10.57}, {'connected_gene': 'TOX4', 'score': 8.7}, {'connected_gene': 'RAB2B', 'score': 7.69}, {'connected_gene': 'RN7SL650P', 'score': 0.31}]
chr14 GH14I021541 21541649 21542170 0.83 [{'connected_gene': 'METTL3', 'score': 51.23}, {'connected_gene': 'SUPT16H', 'score': 35.99}, {'connected_gene': 'METTL17', 'score': 33.31}, {'connected_gene': 'CHD8', 'score': 23.74}, {'connected_gene': 'SALL2', 'score': 18.0}, {'connected_gene': 'RAB2B', 'score': 11.63}, {'connected_gene': 'RBBP4P5', 'score': 0.34}]
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 GH14I021887 21887378 21888564 0.79 [{'connected_gene': 'TRAV12-2', 'score': 550.77}, {'connected_gene': 'METTL3', 'score': 36.13}, {'connected_gene': 'TRAV8-5', 'score': 29.36}, {'connected_gene': 'SUPT16H', 'score': 26.39}, {'connected_gene': 'METTL17', 'score': 21.44}, {'connected_gene': 'RAB2B', 'score': 19.95}, {'connected_gene': 'LINC00641', 'score': 15.57}, {'connected_gene': 'ENSG00000258458', 'score': 14.52}, {'connected_gene': 'MMP14', 'score': 13.08}, {'connected_gene': 'CHD8', 'score': 10.42}, {'connected_gene': 'ZNF219', 'score': 10.38}, {'connected_gene': 'TRAV8-4', 'score': 0.44}, {'connected_gene': 'TRA', 'score': 0.06}]
chr14 GH14I022280 22280576 22282170 0.72 [{'connected_gene': 'TRAV38-2DV8', 'score': 550.77}, {'connected_gene': 'CDH24', 'score': 11.04}, {'connected_gene': 'METTL3', 'score': 10.93}, {'connected_gene': 'SUPT16H', 'score': 10.63}, {'connected_gene': 'RAB2B', 'score': 9.73}, {'connected_gene': 'TRAV39', 'score': 0.34}, {'connected_gene': 'TRA', 'score': 0.03}]
chr14 GH14I020609 20608942 20610757 1.57 [{'connected_gene': 'RNASE11', 'score': 550.77}, {'connected_gene': 'ENSG00000259060', 'score': 550.77}, {'connected_gene': 'TRL-AAG2-3', 'score': 550.77}, {'connected_gene': 'TRP-AGG2-5', 'score': 550.77}, {'connected_gene': 'PARP2', 'score': 31.87}, {'connected_gene': 'SUPT16H', 'score': 31.81}, {'connected_gene': 'METTL3', 'score': 26.36}, {'connected_gene': 'TTC5', 'score': 21.97}, {'connected_gene': 'ENSG00000258515', 'score': 21.74}, {'connected_gene': 'CHD8', 'score': 20.56}, {'connected_gene': 'PIP4P1', 'score': 19.86}, {'connected_gene': 'ENSG00000258768', 'score': 18.52}, {'connected_gene': 'LINC00641', 'score': 15.57}, {'connected_gene': 'ENSG00000260830', 'score': 12.65}, {'connected_gene': 'OSGEP', 'score': 12.55}, {'connected_gene': 'METTL17', 'score': 11.27}, {'connected_gene': 'RAB2B', 'score': 10.93}, {'connected_gene': 'CCNB1IP1', 'score': 10.83}]
chr14 GH14I020662 20662801 20664600 1.25 [{'connected_gene': 'TRY-GTA5-4', 'score': 550.77}, {'connected_gene': 'PARP2', 'score': 41.16}, {'connected_gene': 'ENSG00000258515', 'score': 30.49}, {'connected_gene': 'SUPT16H', 'score': 27.05}, {'connected_gene': 'TTC5', 'score': 21.96}, {'connected_gene': 'PIP4P1', 'score': 19.83}, {'connected_gene': 'ENSG00000258768', 'score': 18.52}, {'connected_gene': 'METTL3', 'score': 14.14}, {'connected_gene': 'ENSG00000260830', 'score': 12.65}, {'connected_gene': 'OSGEP', 'score': 12.52}, {'connected_gene': 'CHD8', 'score': 12.3}, {'connected_gene': 'OR6S1', 'score': 12.09}, {'connected_gene': 'RAB2B', 'score': 10.93}, {'connected_gene': 'RNASE4', 'score': 6.58}, {'connected_gene': 'GC14M020668', 'score': 0.77}]
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 GH14I021496 21496262 21496960 0.2 [{'connected_gene': 'PIR42881', 'score': 0.44}, {'connected_gene': 'RAB2B', 'score': 0.37}, {'connected_gene': 'TOX4', 'score': 0.34}]
chr14 GH14I020665 20665542 20665691 0.8 [{'connected_gene': 'ENSG00000258768', 'score': 12.95}, {'connected_gene': 'RAB2B', 'score': 12.54}, {'connected_gene': 'ENSG00000258515', 'score': 12.05}, {'connected_gene': 'OSGEP', 'score': 12.02}, {'connected_gene': 'TTC5', 'score': 11.2}, {'connected_gene': 'SUPT16H', 'score': 10.72}, {'connected_gene': 'TRY-GTA5-4', 'score': 0.77}, {'connected_gene': 'GC14M020668', 'score': 0.77}]
chr14 GH14I021498 21498451 21499286 0.7 [{'connected_gene': 'ENSG00000257096', 'score': 11.7}, {'connected_gene': 'SALL2', 'score': 11.64}, {'connected_gene': 'TOX4', 'score': 9.49}, {'connected_gene': 'PIR42881', 'score': 0.77}, {'connected_gene': 'METTL3', 'score': 0.39}, {'connected_gene': 'RAB2B', 'score': 0.34}]
chr14 GH14I020827 20827612 20828438 0.67 [{'connected_gene': 'ENSG00000258515', 'score': 33.37}, {'connected_gene': 'SUPT16H', 'score': 29.6}, {'connected_gene': 'METTL3', 'score': 27.62}, {'connected_gene': 'METTL17', 'score': 21.06}, {'connected_gene': 'RAB2B', 'score': 20.62}, {'connected_gene': 'ENSG00000258768', 'score': 12.93}, {'connected_gene': 'RNASE1', 'score': 12.01}, {'connected_gene': 'OSGEP', 'score': 11.99}, {'connected_gene': 'TTC5', 'score': 11.17}, {'connected_gene': 'EDDM3A', 'score': 10.98}, {'connected_gene': 'EDDM3B', 'score': 10.87}, {'connected_gene': 'ENSG00000178107', 'score': 10.35}, {'connected_gene': 'GC14P020814', 'score': 0.39}, {'connected_gene': 'ENSG00000259130', 'score': 0.25}]

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