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
ENST00000265523 [[43798278, 43798333], [43810736, 43810769], [43827502, 43827624], [43830847, 43830967], [43832313, 43832411], [43840063, 43840171], [43843274, 43843446], [43846575, 43846938]] [[43810757, 43810769], [43827502, 43827624], [43830847, 43830967], [43832313, 43832411], [43840063, 43840171], [43843274, 43843446], [43846575, 43846834]]
ENST00000402924 [[43798285, 43798333], [43799615, 43799709], [43810736, 43810769], [43827502, 43827624], [43830847, 43830967], [43832313, 43832411], [43840063, 43840171], [43843274, 43843446], [43846575, 43846939]] [[43810757, 43810769], [43827502, 43827624], [43830847, 43830967], [43832313, 43832411], [43840063, 43840171], [43843274, 43843446], [43846575, 43846834]]
ENST00000424330 [[43803789, 43803904], [43810736, 43810769], [43827502, 43827624], [43830847, 43830967], [43832313, 43832366]] [[43810757, 43810769], [43827502, 43827624], [43830847, 43830967], [43832313, 43832366]]
ENST00000453612 [[43810733, 43810769], [43827502, 43827624], [43830847, 43831446]] None
ENST00000486984 [[43840007, 43840171], [43843274, 43843434]] None
NM_000712 [[43798271, 43798333], [43810736, 43810769], [43827502, 43827624], [43830847, 43830967], [43832313, 43832411], [43840063, 43840171], [43843274, 43843446], [43846575, 43846941]] [[43810757, 43810769], [43827502, 43827624], [43830847, 43830967], [43832313, 43832411], [43840063, 43840171], [43843274, 43843446], [43846575, 43846834]]
NM_001253823 [[43798271, 43798333], [43799615, 43799709], [43810736, 43810769], [43827502, 43827624], [43830847, 43830967], [43832313, 43832411], [43840063, 43840171], [43843274, 43843446], [43846575, 43846941]] [[43810757, 43810769], [43827502, 43827624], [43830847, 43830967], [43832313, 43832411], [43840063, 43840171], [43843274, 43843446], [43846575, 43846834]]
Promoter
Chrom Start End Description
chr7 43798270 43798316 CAGE_peak_1_at_BLVRA_5end
chr7 43803797 43803823 CAGE_peak_2_at_BLVRA_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I043693 43693001 43695623 1.3 [{'connected_gene': 'STK17A', 'score': 27.04}, {'connected_gene': 'BLVRA', 'score': 15.83}, {'connected_gene': 'COA1', 'score': 11.97}, {'connected_gene': 'MRPS24', 'score': 10.57}, {'connected_gene': 'LINC00957', 'score': 6.06}, {'connected_gene': 'DBNL', 'score': 1.74}, {'connected_gene': 'GC07M043624', 'score': 0.2}]
chr7 GH07I043808 43808115 43809436 0.67 [{'connected_gene': 'STK17A', 'score': 13.79}, {'connected_gene': 'BLVRA', 'score': 11.8}, {'connected_gene': 'COA1', 'score': 11.76}, {'connected_gene': 'MRPS24', 'score': 10.8}, {'connected_gene': 'PIR43622', 'score': 0.44}, {'connected_gene': 'LOC102724946', 'score': 0.29}, {'connected_gene': 'ENSG00000229497', 'score': 0.26}]
chr7 GH07I043638 43638864 43641894 1.3 [{'connected_gene': 'STK17A', 'score': 26.33}, {'connected_gene': 'BLVRA', 'score': 15.41}, {'connected_gene': 'COA1', 'score': 11.42}, {'connected_gene': 'LINC00957', 'score': 5.82}, {'connected_gene': 'GC07M043624', 'score': 0.39}]
chr7 GH07I043615 43615213 43615576 0.61 [{'connected_gene': 'STK17A', 'score': 20.82}, {'connected_gene': 'BLVRA', 'score': 10.35}, {'connected_gene': 'POLM', 'score': 2.65}, {'connected_gene': 'DBNL', 'score': 2.33}, {'connected_gene': 'URGCP', 'score': 1.12}, {'connected_gene': 'PIR50622', 'score': 0.77}, {'connected_gene': 'GC07P043619', 'score': 0.77}, {'connected_gene': 'PIR39554', 'score': 0.44}, {'connected_gene': 'COA1', 'score': 0.14}]
chr7 GH07I043781 43781642 43783400 1.31 [{'connected_gene': 'STK17A', 'score': 13.98}, {'connected_gene': 'BLVRA', 'score': 10.77}, {'connected_gene': 'LINC00957', 'score': 5.72}, {'connected_gene': 'UBE2D4', 'score': 4.62}, {'connected_gene': 'DBNL', 'score': 1.7}, {'connected_gene': 'ENSG00000229497', 'score': 0.37}, {'connected_gene': 'PIR43622', 'score': 0.28}, {'connected_gene': 'LOC102724946', 'score': 0.22}]
chr7 GH07I043600 43600637 43603820 0.46 [{'connected_gene': 'STK17A', 'score': 24.15}, {'connected_gene': 'BLVRA', 'score': 15.57}, {'connected_gene': 'PIR39554', 'score': 0.44}]
chr7 GH07I043593 43593801 43595200 0.69 [{'connected_gene': 'STK17A', 'score': 25.02}, {'connected_gene': 'BLVRA', 'score': 6.48}, {'connected_gene': 'PIR39554', 'score': 0.39}]
chr7 GH07I043642 43642570 43652994 1.56 [{'connected_gene': 'STK17A', 'score': 28.08}, {'connected_gene': 'COA1', 'score': 23.66}, {'connected_gene': 'BLVRA', 'score': 15.77}, {'connected_gene': 'ENSG00000241057', 'score': 4.37}, {'connected_gene': 'DBNL', 'score': 1.93}, {'connected_gene': 'POLM', 'score': 1.5}, {'connected_gene': 'GC07M043624', 'score': 0.34}]
chr7 GH07I043628 43628224 43634508 1.09 [{'connected_gene': 'STK17A', 'score': 39.46}, {'connected_gene': 'COA1', 'score': 26.32}, {'connected_gene': 'BLVRA', 'score': 15.58}, {'connected_gene': 'DBNL', 'score': 2.87}, {'connected_gene': 'POLM', 'score': 1.42}, {'connected_gene': 'GC07M043624', 'score': 0.77}]
chr7 GH07I043749 43749854 43751400 1.34 [{'connected_gene': 'STK17A', 'score': 14.63}, {'connected_gene': 'COA1', 'score': 12.5}, {'connected_gene': 'BLVRA', 'score': 10.41}, {'connected_gene': 'DBNL', 'score': 1.17}, {'connected_gene': 'PIR57316', 'score': 0.37}]
chr7 GH07I043657 43657777 43661149 1.15 [{'connected_gene': 'STK17A', 'score': 26.12}, {'connected_gene': 'COA1', 'score': 11.35}, {'connected_gene': 'BLVRA', 'score': 9.88}, {'connected_gene': 'LUARIS', 'score': 9.74}, {'connected_gene': 'GC07M043624', 'score': 0.29}]
chr7 GH07I043655 43655277 43656432 0.2 [{'connected_gene': 'STK17A', 'score': 26.28}, {'connected_gene': 'COA1', 'score': 10.94}, {'connected_gene': 'BLVRA', 'score': 6.82}, {'connected_gene': 'GC07M043624', 'score': 0.31}]
chr7 GH07I043582 43582478 43593549 2.77 [{'connected_gene': 'STK17A', 'score': 594.51}, {'connected_gene': 'COA1', 'score': 18.62}, {'connected_gene': 'DDX56', 'score': 11.66}, {'connected_gene': 'BLVRA', 'score': 7.65}, {'connected_gene': 'POLM', 'score': 5.37}, {'connected_gene': 'URGCP', 'score': 2.16}, {'connected_gene': 'PIR39554', 'score': 0.34}]
chr7 GH07I043673 43673232 43675323 1.33 [{'connected_gene': 'STK17A', 'score': 15.16}, {'connected_gene': 'COA1', 'score': 11.11}, {'connected_gene': 'LUARIS', 'score': 10.6}, {'connected_gene': 'BLVRA', 'score': 9.9}, {'connected_gene': 'URGCP', 'score': 6.35}, {'connected_gene': 'GCK', 'score': 4.69}, {'connected_gene': 'GC07M043624', 'score': 0.25}]
chr7 GH07I043653 43653196 43654400 0.86 [{'connected_gene': 'STK17A', 'score': 26.28}, {'connected_gene': 'DDX56', 'score': 16.51}, {'connected_gene': 'BLVRA', 'score': 12.99}, {'connected_gene': 'ENSG00000228434', 'score': 11.52}, {'connected_gene': 'TMED4', 'score': 11.12}, {'connected_gene': 'COA1', 'score': 10.93}, {'connected_gene': 'SPDYE1', 'score': 9.85}, {'connected_gene': 'GC07M043624', 'score': 0.31}]
chr7 GH07I043604 43604171 43605201 0.63 [{'connected_gene': 'STK17A', 'score': 14.87}, {'connected_gene': 'DDX56', 'score': 10.51}, {'connected_gene': 'BLVRA', 'score': 6.53}, {'connected_gene': 'PIR39554', 'score': 0.77}]
chr7 GH07I043833 43833869 43835692 1.04 [{'connected_gene': 'BLVRA', 'score': 21.81}, {'connected_gene': 'STK17A', 'score': 12.47}, {'connected_gene': 'COA1', 'score': 11.3}, {'connected_gene': 'MRPS24', 'score': 10.99}, {'connected_gene': 'LOC102724946', 'score': 0.77}, {'connected_gene': 'PIR43622', 'score': 0.37}]
chr7 GH07I043762 43762801 43766172 1.64 [{'connected_gene': 'BLVRA', 'score': 560.66}, {'connected_gene': 'STK17A', 'score': 14.89}, {'connected_gene': 'COA1', 'score': 11.36}, {'connected_gene': 'ENSG00000229497', 'score': 0.77}, {'connected_gene': 'LOC102724946', 'score': 0.19}]
chr7 GH07I043757 43757968 43759828 1.93 [{'connected_gene': 'BLVRA', 'score': 564.07}, {'connected_gene': 'STK17A', 'score': 14.9}, {'connected_gene': 'ENSG00000229497', 'score': 0.44}, {'connected_gene': 'LOC102724946', 'score': 0.18}]
chr7 GH07I043577 43577206 43578094 1.08 [{'connected_gene': 'BLVRA', 'score': 11.74}, {'connected_gene': 'COA1', 'score': 10.92}, {'connected_gene': 'MRPS24', 'score': 10.56}, {'connected_gene': 'STK17A', 'score': 8.41}, {'connected_gene': 'LUARIS', 'score': 0.22}]
chr7 GH07I043791 43791733 43792401 0.38 [{'connected_gene': 'BLVRA', 'score': 18.61}, {'connected_gene': 'COA1', 'score': 11.22}, {'connected_gene': 'MRPS24', 'score': 10.83}, {'connected_gene': 'ENSG00000229497', 'score': 0.34}, {'connected_gene': 'PIR43622', 'score': 0.31}, {'connected_gene': 'LOC102724946', 'score': 0.25}]
chr7 GH07I043792 43792522 43792671 0.2 [{'connected_gene': 'BLVRA', 'score': 11.33}, {'connected_gene': 'COA1', 'score': 11.28}, {'connected_gene': 'MRPS24', 'score': 10.83}, {'connected_gene': 'ENSG00000229497', 'score': 0.31}, {'connected_gene': 'PIR43622', 'score': 0.31}, {'connected_gene': 'LOC102724946', 'score': 0.25}]
chr7 GH07I043533 43533977 43537322 0.6 [{'connected_gene': 'BLVRA', 'score': 10.25}, {'connected_gene': 'LINC00957', 'score': 4.4}, {'connected_gene': 'LUARIS', 'score': 0.39}, {'connected_gene': 'STK17A', 'score': 0.25}, {'connected_gene': 'HECW1', 'score': 0.05}]
chr7 GH07I043756 43756197 43757451 1.12 [{'connected_gene': 'BLVRA', 'score': 562.88}, {'connected_gene': 'PIR57316', 'score': 0.34}, {'connected_gene': 'LOC102724946', 'score': 0.18}]
chr7 GH07I043747 43747729 43747954 0.4 [{'connected_gene': 'BLVRA', 'score': 0.39}, {'connected_gene': 'PIR57316', 'score': 0.39}]
chr7 GH07I043635 43635185 43638637 1.28 [{'connected_gene': 'COA1', 'score': 22.54}, {'connected_gene': 'STK17A', 'score': 16.15}, {'connected_gene': 'BLVRA', 'score': 9.85}, {'connected_gene': 'POLM', 'score': 2.92}, {'connected_gene': 'DBNL', 'score': 2.32}, {'connected_gene': 'URGCP', 'score': 1.27}, {'connected_gene': 'GC07M043624', 'score': 0.44}]
chr7 GH07I043668 43668929 43670834 1.05 [{'connected_gene': 'COA1', 'score': 28.78}, {'connected_gene': 'STK17A', 'score': 14.39}, {'connected_gene': 'BLVRA', 'score': 6.9}, {'connected_gene': 'GC07M043624', 'score': 0.26}]
chr7 GH07I043796 43796298 43796300 0.34 [{'connected_gene': 'COA1', 'score': 10.13}, {'connected_gene': 'PIR43622', 'score': 0.34}, {'connected_gene': 'ENSG00000229497', 'score': 0.31}, {'connected_gene': 'BLVRA', 'score': 0.28}, {'connected_gene': 'LOC102724946', 'score': 0.26}]
chr7 GH07I043753 43753411 43753750 0.39 [{'connected_gene': 'COA1', 'score': 12.5}, {'connected_gene': 'BLVRA', 'score': 0.77}, {'connected_gene': 'PIR57316', 'score': 0.37}, {'connected_gene': 'LOC102724946', 'score': 0.17}]
chr7 GH07I043761 43761957 43762600 0.84 [{'connected_gene': 'COA1', 'score': 11.36}, {'connected_gene': 'BLVRA', 'score': 10.72}, {'connected_gene': 'ENSG00000229497', 'score': 0.44}, {'connected_gene': 'LOC102724946', 'score': 0.18}]
chr7 GH07I043671 43671122 43671351 0.4 [{'connected_gene': 'COA1', 'score': 10.89}, {'connected_gene': 'BLVRA', 'score': 9.89}, {'connected_gene': 'GC07M043624', 'score': 0.26}]
chr7 GH07I043728 43728400 43730872 2.06 [{'connected_gene': 'COA1', 'score': 566.65}, {'connected_gene': 'DDX56', 'score': 25.94}, {'connected_gene': 'POLM', 'score': 25.16}, {'connected_gene': 'ENSG00000228434', 'score': 21.91}, {'connected_gene': 'STK17A', 'score': 14.97}, {'connected_gene': 'BLVRA', 'score': 14.11}, {'connected_gene': 'SPDYE1', 'score': 12.28}, {'connected_gene': 'TMED4', 'score': 10.42}, {'connected_gene': 'LINC00957', 'score': 6.07}, {'connected_gene': 'GC07M043624', 'score': 0.15}]
chr7 GH07I043567 43567439 43574000 1.62 [{'connected_gene': 'COA1', 'score': 21.57}, {'connected_gene': 'LUARIS', 'score': 11.5}, {'connected_gene': 'BLVRA', 'score': 10.34}, {'connected_gene': 'STK17A', 'score': 7.73}, {'connected_gene': 'DBNL', 'score': 2.8}]
chr7 GH07I044038 44038922 44041187 1.46 [{'connected_gene': 'RASA4CP', 'score': 550.77}, {'connected_gene': 'LINC00957', 'score': 550.77}, {'connected_gene': 'ENSG00000241057', 'score': 21.88}, {'connected_gene': 'POLM', 'score': 13.69}, {'connected_gene': 'BLVRA', 'score': 5.13}]
chr7 GH07I043565 43565922 43566071 0.59 [{'connected_gene': 'LUARIS', 'score': 11.19}, {'connected_gene': 'BLVRA', 'score': 11.11}, {'connected_gene': 'COA1', 'score': 10.11}, {'connected_gene': 'STK17A', 'score': 0.37}, {'connected_gene': 'HECW1', 'score': 0.05}]
chr7 GH07I043553 43553687 43554791 0.88 [{'connected_gene': 'LUARIS', 'score': 12.03}, {'connected_gene': 'BLVRA', 'score': 10.53}, {'connected_gene': 'COA1', 'score': 7.61}, {'connected_gene': 'STK17A', 'score': 0.31}, {'connected_gene': 'HECW1', 'score': 0.04}]
chr7 GH07I043520 43520629 43521657 0.2 [{'connected_gene': 'LUARIS', 'score': 550.77}, {'connected_gene': 'BLVRA', 'score': 5.06}, {'connected_gene': 'RASA4CP', 'score': 4.81}, {'connected_gene': 'GC07P043445', 'score': 0.18}, {'connected_gene': 'HECW1', 'score': 0.05}]
chr7 GH07I043521 43521869 43523113 0.51 [{'connected_gene': 'LUARIS', 'score': 550.77}, {'connected_gene': 'BLVRA', 'score': 4.36}, {'connected_gene': 'GC07P043445', 'score': 0.18}, {'connected_gene': 'HECW1', 'score': 0.05}]
chr7 GH07I043620 43618216 43618486 0.71 [{'connected_gene': 'PIR50622', 'score': 550.77}, {'connected_gene': 'GC07P043619', 'score': 550.77}, {'connected_gene': 'STK17A', 'score': 14.82}, {'connected_gene': 'BLVRA', 'score': 8.74}, {'connected_gene': 'URGCP', 'score': 1.55}, {'connected_gene': 'POLM', 'score': 1.41}, {'connected_gene': 'PIR39554', 'score': 0.39}, {'connected_gene': 'COA1', 'score': 0.14}]
chr7 GH07I043768 43768416 43769937 0.93 [{'connected_gene': 'ENSG00000229497', 'score': 550.77}, {'connected_gene': 'STK17A', 'score': 14.89}, {'connected_gene': 'BLVRA', 'score': 0.39}, {'connected_gene': 'PIR43622', 'score': 0.25}, {'connected_gene': 'LOC102724946', 'score': 0.2}]
chr7 GH07I043619 43619216 43627941 1.2 [{'connected_gene': 'PIR42681', 'score': 550.77}, {'connected_gene': 'STK17A', 'score': 18.34}, {'connected_gene': 'COA1', 'score': 15.92}, {'connected_gene': 'MRPL32', 'score': 11.34}, {'connected_gene': 'DDX56', 'score': 11.04}, {'connected_gene': 'BLVRA', 'score': 9.55}, {'connected_gene': 'POLM', 'score': 6.59}, {'connected_gene': 'DBNL', 'score': 2.49}, {'connected_gene': 'GC07P043619', 'score': 0.77}, {'connected_gene': 'GC07M043624', 'score': 0.77}, {'connected_gene': 'PIR50622', 'score': 0.77}]
chr7 GH07I043734 43734388 43736794 1.17 [{'connected_gene': 'PIR57316', 'score': 550.77}, {'connected_gene': 'BLVRA', 'score': 28.92}, {'connected_gene': 'COA1', 'score': 16.29}, {'connected_gene': 'STK17A', 'score': 14.89}, {'connected_gene': 'DDX56', 'score': 12.78}, {'connected_gene': 'TMED4', 'score': 12.35}, {'connected_gene': 'MRPL32', 'score': 10.38}, {'connected_gene': 'LINC00957', 'score': 6.08}]
chr7 GH07I043766 43766447 43766821 0.86 [{'connected_gene': 'ENSG00000229497', 'score': 550.77}, {'connected_gene': 'BLVRA', 'score': 0.44}, {'connected_gene': 'LOC102724946', 'score': 0.19}]
chr7 GH07I043784 43784347 43786191 0.91 [{'connected_gene': 'ENSG00000229497', 'score': 0.37}, {'connected_gene': 'BLVRA', 'score': 0.31}, {'connected_gene': 'PIR43622', 'score': 0.29}, {'connected_gene': 'LOC102724946', 'score': 0.23}]
chr7 GH07I043779 43779542 43779691 0.71 [{'connected_gene': 'ENSG00000229497', 'score': 0.39}, {'connected_gene': 'BLVRA', 'score': 0.34}, {'connected_gene': 'PIR43622', 'score': 0.28}, {'connected_gene': 'LOC102724946', 'score': 0.22}]

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