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
ENST00000521601 [[105342551, 105342665], [105343833, 105343958], [105344170, 105344192], [105393411, 105393542], [105430943, 105431140]] None
ENST00000351513 [[105391651, 105392071], [105393411, 105393542], [105405011, 105405219], [105436474, 105436617], [105440207, 105440349], [105441772, 105441929], [105456475, 105456665], [105459551, 105459731], [105463473, 105463632], [105478884, 105479281]] [[105393425, 105393542], [105405011, 105405219], [105436474, 105436617], [105440207, 105440349], [105441772, 105441929], [105456475, 105456665], [105459551, 105459731], [105463473, 105463632], [105478884, 105479148]]
ENST00000520806 [[105391662, 105392071], [105393411, 105393639]] None
ENST00000533874 [[105391718, 105392071], [105405011, 105405084]] [[105391981, 105392071], [105405011, 105405084]]
ENST00000520483 [[105392740, 105393542], [105405011, 105405219], [105430943, 105431082]] None
ENST00000521372 [[105393404, 105393542], [105405011, 105405219], [105423976, 105424043]] None
ENST00000519217 [[105441374, 105441929], [105456475, 105456596]] None
ENST00000521573 [[105456657, 105456665], [105459551, 105459731], [105478884, 105479272]] [[105456657, 105456665], [105459551, 105459731], [105478884, 105479148]]
NM_001385 [[105391651, 105392071], [105393411, 105393542], [105405011, 105405219], [105436474, 105436617], [105440207, 105440349], [105441772, 105441929], [105456475, 105456665], [105459551, 105459731], [105463473, 105463632], [105478884, 105479277]] [[105393425, 105393542], [105405011, 105405219], [105436474, 105436617], [105440207, 105440349], [105441772, 105441929], [105456475, 105456665], [105459551, 105459731], [105463473, 105463632], [105478884, 105479148]]
Promoter
Chrom Start End Description
chr8 105479270 105479289 CAGE_peak_1_at_DPYS_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I104359 104359795 104362798 1.18 [{'connected_gene': 'DCSTAMP', 'score': 60.04}, {'connected_gene': 'LRP12', 'score': 1.54}, {'connected_gene': 'GC08M104420', 'score': 0.22}, {'connected_gene': 'DPYS', 'score': 0.14}]
chr8 GH08I104336 104336616 104337480 0.99 [{'connected_gene': 'DCSTAMP', 'score': 35.71}, {'connected_gene': 'LRP12', 'score': 1.75}, {'connected_gene': 'PIR34879', 'score': 0.18}, {'connected_gene': 'DPYS', 'score': 0.12}]
chr8 GH08I104437 104437471 104437726 0.56 [{'connected_gene': 'DCSTAMP', 'score': 15.84}, {'connected_gene': 'DPYS', 'score': 10.29}, {'connected_gene': 'LOC105375692', 'score': 0.44}, {'connected_gene': 'LOC105375691', 'score': 0.31}]
chr8 GH08I104329 104329513 104331079 1.14 [{'connected_gene': 'DCSTAMP', 'score': 14.18}, {'connected_gene': 'PIR34879', 'score': 0.19}, {'connected_gene': 'DPYS', 'score': 0.12}]
chr8 GH08I104367 104367401 104367600 0.31 [{'connected_gene': 'DCSTAMP', 'score': 11.76}, {'connected_gene': 'GC08M104420', 'score': 0.23}, {'connected_gene': 'DPYS', 'score': 0.15}]
chr8 GH08I104347 104347533 104347682 0.2 [{'connected_gene': 'DCSTAMP', 'score': 0.44}, {'connected_gene': 'GC08M104420', 'score': 0.19}, {'connected_gene': 'DPYS', 'score': 0.13}]
chr8 GH08I104342 104342601 104343200 0.63 [{'connected_gene': 'DCSTAMP', 'score': 0.77}, {'connected_gene': 'GC08M104420', 'score': 0.18}, {'connected_gene': 'DPYS', 'score': 0.13}]
chr8 GH08I104417 104417038 104418429 0.97 [{'connected_gene': 'DCSTAMP', 'score': 20.35}, {'connected_gene': 'GC08M104420', 'score': 0.77}, {'connected_gene': 'DPYS', 'score': 0.25}]
chr8 GH08I104338 104338401 104339600 0.69 [{'connected_gene': 'DCSTAMP', 'score': 580.14}, {'connected_gene': 'PIR34879', 'score': 0.18}, {'connected_gene': 'DPYS', 'score': 0.13}]
chr8 GH08I104339 104339713 104339842 0.7 [{'connected_gene': 'DCSTAMP', 'score': 580.15}, {'connected_gene': 'GC08M104420', 'score': 0.18}, {'connected_gene': 'DPYS', 'score': 0.13}]
chr8 GH08I104459 104459668 104461362 0.46 [{'connected_gene': 'MIR548A3', 'score': 10.67}, {'connected_gene': 'LRP12', 'score': 4.73}, {'connected_gene': 'DPYS', 'score': 0.44}, {'connected_gene': 'LOC105375691', 'score': 0.44}, {'connected_gene': 'LOC105375692', 'score': 0.29}]
chr8 GH08I104352 104352595 104352630 0.31 [{'connected_gene': 'DPYS', 'score': 9.39}, {'connected_gene': 'DCSTAMP', 'score': 0.39}, {'connected_gene': 'GC08M104420', 'score': 0.2}]
chr8 GH08I104467 104467045 104467104 0.79 [{'connected_gene': 'DPYS', 'score': 550.77}, {'connected_gene': 'LOC105375691', 'score': 550.77}, {'connected_gene': 'ENSG00000279138', 'score': 0.39}]
chr8 GH08I104428 104428553 104428702 0.31 [{'connected_gene': 'LOC105375692', 'score': 550.77}, {'connected_gene': 'DPYS', 'score': 0.28}, {'connected_gene': 'LOC105375691', 'score': 0.28}]
chr8 GH08I104446 104446401 104447000 0.31 [{'connected_gene': 'LOC105375692', 'score': 0.37}, {'connected_gene': 'LOC105375691', 'score': 0.37}, {'connected_gene': 'DPYS', 'score': 0.34}]
chr8 GH08I104402 104400093 104400242 0.2 [{'connected_gene': 'GC08M104420', 'score': 0.34}, {'connected_gene': 'DCSTAMP', 'score': 0.21}, {'connected_gene': 'DPYS', 'score': 0.2}]
chr8 GH08I104401 104400553 104400702 0.52 [{'connected_gene': 'GC08M104420', 'score': 0.34}, {'connected_gene': 'DCSTAMP', 'score': 0.21}, {'connected_gene': 'DPYS', 'score': 0.2}]
chr8 GH08I104400 104400293 104400442 0.46 [{'connected_gene': 'GC08M104420', 'score': 0.34}, {'connected_gene': 'DCSTAMP', 'score': 0.21}, {'connected_gene': 'DPYS', 'score': 0.2}]
chr8 GH08I104411 104411680 104412635 0.72 [{'connected_gene': 'GC08M104420', 'score': 0.44}, {'connected_gene': 'DPYS', 'score': 0.23}, {'connected_gene': 'DCSTAMP', 'score': 0.19}]

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