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
ENST00000380419 [[5435060, 5436424], [5437289, 5437438], [5442806, 5443050], [5446752, 5446793]] [[5435479, 5436424], [5437289, 5437438], [5442806, 5443050], [5446752, 5446755]]
ENST00000479328 [[5435231, 5436424], [5437289, 5437438], [5442806, 5442930], [5446752, 5446791]] [[5435479, 5436424], [5437289, 5437438], [5442806, 5442930], [5446752, 5446755]]
NM_024803 [[5435060, 5436424], [5437289, 5437438], [5442806, 5443050], [5446752, 5446793]] [[5435479, 5436424], [5437289, 5437438], [5442806, 5443050], [5446752, 5446755]]
NM_001171864 [[5435060, 5436424], [5437289, 5437438], [5442806, 5442930], [5446752, 5446793]] [[5435479, 5436424], [5437289, 5437438], [5442806, 5442930], [5446752, 5446755]]
Promoter
Chrom Start End Description
chr10 5446786 5446795 CAGE_peak_1_at_TUBAL3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I005283 5283338 5285454 1.35 [{'connected_gene': 'FBXO18', 'score': 15.1}, {'connected_gene': 'LOC105376384', 'score': 14.4}, {'connected_gene': 'FAM208B', 'score': 12.05}, {'connected_gene': 'ENSG00000226647', 'score': 12.03}, {'connected_gene': 'GDI2', 'score': 11.41}, {'connected_gene': 'LINC02561', 'score': 11.07}, {'connected_gene': 'TUBAL3', 'score': 8.24}, {'connected_gene': 'RBM17', 'score': 5.58}, {'connected_gene': 'AKR1C7P', 'score': 0.77}]
chr10 GH10I004825 4825549 4827596 1.92 [{'connected_gene': 'AKR1E2', 'score': 558.14}, {'connected_gene': 'UCN3', 'score': 10.29}, {'connected_gene': 'TUBAL3', 'score': 9.7}, {'connected_gene': 'AKR1C2', 'score': 8.64}, {'connected_gene': 'GC10P004844', 'score': 0.37}]
chr10 GH10I005459 5459510 5463862 1.29 [{'connected_gene': 'TUBAL3', 'score': 15.33}, {'connected_gene': 'FBXO18', 'score': 4.8}, {'connected_gene': 'CALML5', 'score': 0.28}, {'connected_gene': 'NET1', 'score': 0.25}]
chr10 GH10I005442 5442528 5444161 0.78 [{'connected_gene': 'TUBAL3', 'score': 12.95}, {'connected_gene': 'ASB13', 'score': 10.68}, {'connected_gene': 'CALML5', 'score': 10.44}, {'connected_gene': 'ENSG00000256462', 'score': 10.34}, {'connected_gene': 'CALML3', 'score': 10.34}, {'connected_gene': 'CALML3-AS1', 'score': 10.34}, {'connected_gene': 'UCN3', 'score': 9.96}, {'connected_gene': 'NET1', 'score': 0.29}]
chr10 GH10I005433 5433829 5435147 0.86 [{'connected_gene': 'TUBAL3', 'score': 28.26}, {'connected_gene': 'UCN3', 'score': 10.13}, {'connected_gene': 'NET1', 'score': 0.34}, {'connected_gene': 'CALML5', 'score': 0.2}]
chr10 GH10I005402 5402425 5405416 1.3 [{'connected_gene': 'TUBAL3', 'score': 566.59}, {'connected_gene': 'UCN3', 'score': 5.14}]
chr10 GH10I005441 5441647 5442427 0.9 [{'connected_gene': 'ASB13', 'score': 10.68}, {'connected_gene': 'CALML5', 'score': 10.44}, {'connected_gene': 'ENSG00000256462', 'score': 10.34}, {'connected_gene': 'CALML3', 'score': 10.34}, {'connected_gene': 'CALML3-AS1', 'score': 10.34}, {'connected_gene': 'UCN3', 'score': 9.96}, {'connected_gene': 'TUBAL3', 'score': 9.89}, {'connected_gene': 'NET1', 'score': 0.31}]
chr10 GH10I005411 5411938 5414122 1.97 [{'connected_gene': 'NET1', 'score': 550.77}, {'connected_gene': 'FAM208B', 'score': 20.51}, {'connected_gene': 'FBXO18', 'score': 16.19}, {'connected_gene': 'TUBAL3', 'score': 13.63}, {'connected_gene': 'LOC105376384', 'score': 12.55}, {'connected_gene': 'AKR1E2', 'score': 12.07}, {'connected_gene': 'ENSG00000226647', 'score': 11.99}, {'connected_gene': 'UCN3', 'score': 10.59}, {'connected_gene': 'CALML5', 'score': 4.82}]
chr10 GH10I005444 5444422 5451444 2.48 [{'connected_gene': 'NET1', 'score': 550.28}, {'connected_gene': 'LOC105376384', 'score': 25.59}, {'connected_gene': 'NRBF2P5', 'score': 19.97}, {'connected_gene': 'TUBAL3', 'score': 16.73}, {'connected_gene': 'GDI2', 'score': 14.11}, {'connected_gene': 'FBXO18', 'score': 13.74}, {'connected_gene': 'FAM208B', 'score': 11.89}, {'connected_gene': 'CALML5', 'score': 11.42}, {'connected_gene': 'ENSG00000256462', 'score': 11.19}, {'connected_gene': 'CALML3', 'score': 11.19}, {'connected_gene': 'CALML3-AS1', 'score': 11.19}, {'connected_gene': 'ASB13', 'score': 10.68}, {'connected_gene': 'ENSG00000226647', 'score': 9.98}, {'connected_gene': 'UCN3', 'score': 9.95}]
chr10 GH10I005474 5474278 5475407 0.66 [{'connected_gene': 'CALML5', 'score': 11.66}, {'connected_gene': 'CALML3', 'score': 11.43}, {'connected_gene': 'ENSG00000256462', 'score': 11.42}, {'connected_gene': 'CALML3-AS1', 'score': 11.42}, {'connected_gene': 'TUBAL3', 'score': 11.3}, {'connected_gene': 'ASB13', 'score': 10.41}, {'connected_gene': 'NET1', 'score': 0.21}]
chr10 GH10I005472 5472418 5472567 1.12 [{'connected_gene': 'CALML5', 'score': 11.63}, {'connected_gene': 'ENSG00000256462', 'score': 11.42}, {'connected_gene': 'CALML3', 'score': 11.42}, {'connected_gene': 'CALML3-AS1', 'score': 11.42}, {'connected_gene': 'TUBAL3', 'score': 10.04}, {'connected_gene': 'NET1', 'score': 0.22}]
chr10 GH10I005476 5476273 5481393 1.15 [{'connected_gene': 'CALML5', 'score': 18.98}, {'connected_gene': 'CALML3-AS1', 'score': 17.94}, {'connected_gene': 'ENSG00000256462', 'score': 11.46}, {'connected_gene': 'CALML3', 'score': 11.46}, {'connected_gene': 'ASB13', 'score': 10.41}, {'connected_gene': 'TUBAL3', 'score': 6.06}, {'connected_gene': 'NET1', 'score': 0.2}]
chr10 GH10I005385 5385278 5385447 0.2 [{'connected_gene': 'UCN3', 'score': 12.93}, {'connected_gene': 'TUBAL3', 'score': 0.37}]
chr10 GH10I005289 5289427 5298264 1.69 [{'connected_gene': 'LINC02561', 'score': 17.48}, {'connected_gene': 'TUBAL3', 'score': 16.61}, {'connected_gene': 'UCN3', 'score': 11.16}, {'connected_gene': 'ENSG00000239142', 'score': 11.05}, {'connected_gene': 'AKR1C3', 'score': 11.03}, {'connected_gene': 'AKR1E2', 'score': 4.94}, {'connected_gene': 'AKR1C7P', 'score': 0.44}, {'connected_gene': 'GC10M005304', 'score': 0.39}]
chr10 GH10I005611 5611958 5612207 0.72 [{'connected_gene': 'LOC105376383', 'score': 550.77}, {'connected_gene': 'ENSG00000256462', 'score': 11.03}, {'connected_gene': 'CALML3', 'score': 11.03}, {'connected_gene': 'CALML3-AS1', 'score': 11.03}, {'connected_gene': 'TUBAL3', 'score': 10.52}, {'connected_gene': 'CALML5', 'score': 10.2}, {'connected_gene': 'ASB13', 'score': 5.44}, {'connected_gene': 'ENSG00000228685', 'score': 0.39}]
chr10 GH10I005608 5608971 5611604 1.27 [{'connected_gene': 'LOC105376383', 'score': 550.77}, {'connected_gene': 'ENSG00000256462', 'score': 11.04}, {'connected_gene': 'CALML3-AS1', 'score': 11.04}, {'connected_gene': 'CALML3', 'score': 11.03}, {'connected_gene': 'LOC102723629', 'score': 11.02}, {'connected_gene': 'TUBAL3', 'score': 10.52}, {'connected_gene': 'CALML5', 'score': 10.2}, {'connected_gene': 'ASB13', 'score': 6.13}, {'connected_gene': 'LOC105376382', 'score': 6.03}]
chr10 GH10I005613 5613479 5616207 1.11 [{'connected_gene': 'LOC102723629', 'score': 12.62}, {'connected_gene': 'ENSG00000256462', 'score': 11.44}, {'connected_gene': 'CALML3-AS1', 'score': 11.44}, {'connected_gene': 'CALML3', 'score': 11.43}, {'connected_gene': 'CALML5', 'score': 11.01}, {'connected_gene': 'TUBAL3', 'score': 10.51}, {'connected_gene': 'ASB13', 'score': 10.37}, {'connected_gene': 'NET1', 'score': 6.29}, {'connected_gene': 'LOC105376383', 'score': 0.77}, {'connected_gene': 'ENSG00000228685', 'score': 0.39}]
chr10 GH10I005486 5486036 5490531 1.12 [{'connected_gene': 'CALML3-AS1', 'score': 17.42}, {'connected_gene': 'ENSG00000256462', 'score': 11.46}, {'connected_gene': 'CALML3', 'score': 11.46}, {'connected_gene': 'CALML5', 'score': 9.45}, {'connected_gene': 'TUBAL3', 'score': 9.28}, {'connected_gene': 'UCN3', 'score': 9.14}, {'connected_gene': 'NET1', 'score': 0.18}]
chr10 GH10I005464 5464248 5469492 1.3 [{'connected_gene': 'CALML3-AS1', 'score': 16.35}, {'connected_gene': 'TUBAL3', 'score': 12.16}, {'connected_gene': 'CALML5', 'score': 11.62}, {'connected_gene': 'ENSG00000256462', 'score': 11.41}, {'connected_gene': 'CALML3', 'score': 11.41}, {'connected_gene': 'NET1', 'score': 0.23}]
chr10 GH10I005195 5195508 5197578 1.3 [{'connected_gene': 'GC10M005190', 'score': 550.77}, {'connected_gene': 'AKR1C4', 'score': 550.77}, {'connected_gene': 'TUBAL3', 'score': 5.91}, {'connected_gene': 'RBM17', 'score': 5.86}, {'connected_gene': 'AKR1C3', 'score': 4.72}, {'connected_gene': 'ARL4AP3', 'score': 0.39}]
chr10 GH10I005604 5604725 5605816 0.38 [{'connected_gene': 'ENSG00000256462', 'score': 11.05}, {'connected_gene': 'CALML3-AS1', 'score': 11.05}, {'connected_gene': 'CALML3', 'score': 11.04}, {'connected_gene': 'TUBAL3', 'score': 10.52}, {'connected_gene': 'CALML5', 'score': 10.21}, {'connected_gene': 'LOC102723629', 'score': 7.62}, {'connected_gene': 'NET1', 'score': 5.88}, {'connected_gene': 'LOC105376383', 'score': 0.44}, {'connected_gene': 'LOC105376382', 'score': 0.44}]