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
ENST00000394877 [[100467865, 100470513], [100472041, 100472147], [100474941, 100475091], [100477302, 100477377], [100478501, 100478573], [100479205, 100479368], [100480310, 100480507], [100485069, 100485174]] [[100470244, 100470513], [100472041, 100472147], [100474941, 100475091], [100477302, 100477377], [100478501, 100478573], [100479205, 100479368], [100480310, 100480495]]
ENST00000273962 [[100467883, 100470513], [100472041, 100472147], [100474941, 100475091], [100477302, 100477377], [100478501, 100478573], [100479205, 100479368], [100480310, 100480507], [100484524, 100484825]] [[100470244, 100470513], [100472041, 100472147], [100474941, 100475091], [100477302, 100477377], [100478501, 100478573], [100479205, 100479368], [100480310, 100480495]]
ENST00000394876 [[100469769, 100470513], [100472041, 100472147], [100474941, 100475091], [100477302, 100477377], [100478501, 100478573], [100479205, 100479368], [100480310, 100480518], [100485069, 100485189]] [[100470244, 100470513], [100472041, 100472147], [100474941, 100475091], [100477302, 100477377], [100478501, 100478573], [100479205, 100479368], [100480310, 100480495]]
ENST00000455368 [[100474969, 100475091], [100477302, 100477377], [100478501, 100478573], [100479205, 100479368], [100480310, 100480507], [100484714, 100484887]] [[100474969, 100475091], [100477302, 100477377], [100478501, 100478573], [100479205, 100479368], [100480310, 100480495]]
ENST00000514547 [[100474987, 100475091], [100477302, 100477377], [100478501, 100478573], [100479205, 100479368], [100480310, 100480518], [100484714, 100484880]] [[100474987, 100475091], [100477302, 100477377], [100478501, 100478573], [100479205, 100479368], [100480310, 100480495]]
ENST00000515831 [[100477302, 100477377], [100478501, 100478687]] None
ENST00000507394 [[100478845, 100479368], [100480310, 100480518], [100484714, 100484829]] None
NM_152292 [[100467863, 100470513], [100472041, 100472147], [100474941, 100475091], [100477302, 100477377], [100478501, 100478573], [100479205, 100479368], [100480310, 100480507], [100484524, 100484825]] [[100470244, 100470513], [100472041, 100472147], [100474941, 100475091], [100477302, 100477377], [100478501, 100478573], [100479205, 100479368], [100480310, 100480495]]
NM_001134665 [[100467863, 100470513], [100472041, 100472147], [100474941, 100475091], [100477302, 100477377], [100478501, 100478573], [100479205, 100479368], [100480310, 100480518], [100485069, 100485214]] [[100470244, 100470513], [100472041, 100472147], [100474941, 100475091], [100477302, 100477377], [100478501, 100478573], [100479205, 100479368], [100480310, 100480495]]
NM_001134666 [[100467863, 100470513], [100472041, 100472147], [100474941, 100475091], [100477302, 100477377], [100478501, 100478573], [100479205, 100479368], [100480310, 100480507], [100485069, 100485214]] [[100470244, 100470513], [100472041, 100472147], [100474941, 100475091], [100477302, 100477377], [100478501, 100478573], [100479205, 100479368], [100480310, 100480495]]
Promoter
Chrom Start End Description
chr4 100484667 100484671 CAGE_peak_8_at_RG9MTD2_5end
chr4 100484757 100484772 CAGE_peak_4_at_RG9MTD2_5end
chr4 100484838 100484901 CAGE_peak_1_at_RG9MTD2_5end
chr4 100485143 100485182 CAGE_peak_2_at_RG9MTD2_5end
chr4 100485183 100485202 CAGE_peak_3_at_RG9MTD2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I100348 100348082 100349563 1.07 [{'connected_gene': 'TRMT10A', 'score': 4.88}, {'connected_gene': 'LAMTOR3', 'score': 3.76}, {'connected_gene': 'GC04M100396', 'score': 0.25}, {'connected_gene': 'GC04P100245', 'score': 0.15}, {'connected_gene': 'PIR53160', 'score': 0.15}]
chr4 GH04I099825 99824306 99824333 0.4 [{'connected_gene': 'TRMT10A', 'score': 11.03}, {'connected_gene': 'MTTP', 'score': 11.03}, {'connected_gene': 'LOC285556', 'score': 0.77}, {'connected_gene': 'DAPP1', 'score': 0.44}, {'connected_gene': 'ENSG00000279913', 'score': 0.37}]
chr4 GH04I099610 99610674 99611400 0.38 [{'connected_gene': 'TRMT10A', 'score': 23.55}, {'connected_gene': 'MTTP', 'score': 20.76}, {'connected_gene': 'LOC285556', 'score': 11.28}, {'connected_gene': 'ADH1B', 'score': 4.09}, {'connected_gene': 'ENSG00000248676', 'score': 0.39}]
chr4 GH04I099686 99686580 99687870 0.2 [{'connected_gene': 'TRMT10A', 'score': 16.2}, {'connected_gene': 'MTTP', 'score': 10.68}, {'connected_gene': 'ENSG00000248676', 'score': 0.21}, {'connected_gene': 'DAPP1', 'score': 0.13}, {'connected_gene': 'LOC285556', 'score': 0.12}]
chr4 GH04I099808 99808384 99808533 0.63 [{'connected_gene': 'TRMT10A', 'score': 11.43}, {'connected_gene': 'MTTP', 'score': 11.43}, {'connected_gene': 'DAPP1', 'score': 0.44}, {'connected_gene': 'LOC285556', 'score': 0.39}, {'connected_gene': 'ENSG00000248676', 'score': 0.09}]
chr4 GH04I099580 99580732 99581223 0.4 [{'connected_gene': 'TRMT10A', 'score': 13.27}, {'connected_gene': 'MTTP', 'score': 0.37}, {'connected_gene': 'ENSG00000248676', 'score': 0.26}]
chr4 GH04I099645 99645204 99645353 0.51 [{'connected_gene': 'TRMT10A', 'score': 5.73}, {'connected_gene': 'ENSG00000248676', 'score': 0.37}, {'connected_gene': 'LOC285556', 'score': 0.1}, {'connected_gene': 'DAPP1', 'score': 0.09}]
chr4 GH04I099642 99642442 99644196 0.69 [{'connected_gene': 'TRMT10A', 'score': 7.59}, {'connected_gene': 'ENSG00000248676', 'score': 0.37}, {'connected_gene': 'LOC285556', 'score': 0.1}, {'connected_gene': 'DAPP1', 'score': 0.09}]
chr4 GH04I099710 99710299 99712116 0.59 [{'connected_gene': 'TRMT10A', 'score': 5.66}, {'connected_gene': 'ENSG00000248676', 'score': 0.17}, {'connected_gene': 'DAPP1', 'score': 0.14}, {'connected_gene': 'LOC285556', 'score': 0.14}]
chr4 GH04I099657 99657884 99657993 0.69 [{'connected_gene': 'TRMT10A', 'score': 6.44}, {'connected_gene': 'ENSG00000248676', 'score': 0.29}, {'connected_gene': 'DAPP1', 'score': 0.1}, {'connected_gene': 'LOC285556', 'score': 0.1}]
chr4 GH04I099457 99457189 99460316 0.76 [{'connected_gene': 'TRMT10A', 'score': 4.46}, {'connected_gene': 'LOC100507053', 'score': 4.38}, {'connected_gene': 'ADH7', 'score': 0.34}, {'connected_gene': 'ENSG00000250300', 'score': 0.28}]
chr4 GH04I099829 99829998 99837548 0.46 [{'connected_gene': 'LAMTOR3', 'score': 10.57}, {'connected_gene': 'TRMT10A', 'score': 10.5}, {'connected_gene': 'MTTP', 'score': 10.5}, {'connected_gene': 'DAPP1', 'score': 8.18}, {'connected_gene': 'DNAJB14', 'score': 7.22}, {'connected_gene': 'ENSG00000279913', 'score': 0.39}, {'connected_gene': 'LOC285556', 'score': 0.39}]
chr4 GH04I099893 99893122 99895379 1.96 [{'connected_gene': 'LAMTOR3', 'score': 550.77}, {'connected_gene': 'DNAJB14', 'score': 23.39}, {'connected_gene': 'LOC256880', 'score': 12.13}, {'connected_gene': 'H2AFZ', 'score': 12.13}, {'connected_gene': 'MTTP', 'score': 9.98}, {'connected_gene': 'TRMT10A', 'score': 9.98}, {'connected_gene': 'DAPP1', 'score': 4.18}, {'connected_gene': 'ENSG00000279913', 'score': 0.23}]
chr4 GH04I099870 99870296 99872782 0.31 [{'connected_gene': 'LAMTOR3', 'score': 22.02}, {'connected_gene': 'DAPP1', 'score': 19.55}, {'connected_gene': 'TRMT10A', 'score': 10.34}, {'connected_gene': 'MTTP', 'score': 10.34}, {'connected_gene': 'DNAJB14', 'score': 9.1}, {'connected_gene': 'ENSG00000279913', 'score': 0.31}]
chr4 GH04I099827 99827064 99828974 0.77 [{'connected_gene': 'DNAJB14', 'score': 10.68}, {'connected_gene': 'LOC256880', 'score': 10.68}, {'connected_gene': 'H2AFZ', 'score': 10.68}, {'connected_gene': 'MTTP', 'score': 10.28}, {'connected_gene': 'TRMT10A', 'score': 10.28}, {'connected_gene': 'LAMTOR3', 'score': 9.71}, {'connected_gene': 'DAPP1', 'score': 8.89}, {'connected_gene': 'LOC100507053', 'score': 5.45}, {'connected_gene': 'LOC285556', 'score': 0.44}, {'connected_gene': 'ENSG00000279913', 'score': 0.37}]
chr4 GH04I099539 99539292 99541131 0.2 [{'connected_gene': 'MTTP', 'score': 28.91}, {'connected_gene': 'TRMT10A', 'score': 11.78}, {'connected_gene': 'C4orf17', 'score': 10.77}, {'connected_gene': 'ADH1B', 'score': 4.1}]
chr4 GH04I099714 99714821 99717715 0.46 [{'connected_gene': 'MTTP', 'score': 18.55}, {'connected_gene': 'TRMT10A', 'score': 16.62}, {'connected_gene': 'ENSG00000248676', 'score': 0.16}, {'connected_gene': 'DAPP1', 'score': 0.15}, {'connected_gene': 'LOC285556', 'score': 0.14}]
chr4 GH04I099721 99721969 99724584 1.03 [{'connected_gene': 'MTTP', 'score': 14.24}, {'connected_gene': 'TRMT10A', 'score': 10.2}, {'connected_gene': 'DAPP1', 'score': 0.16}, {'connected_gene': 'ENSG00000248676', 'score': 0.15}, {'connected_gene': 'LOC285556', 'score': 0.15}]
chr4 GH04I099810 99810416 99810693 0.22 [{'connected_gene': 'MTTP', 'score': 10.88}, {'connected_gene': 'TRMT10A', 'score': 10.88}, {'connected_gene': 'LOC256880', 'score': 10.5}, {'connected_gene': 'H2AFZ', 'score': 10.5}, {'connected_gene': 'DNAJB14', 'score': 10.5}, {'connected_gene': 'DAPP1', 'score': 8.77}, {'connected_gene': 'LOC285556', 'score': 0.39}, {'connected_gene': 'ENSG00000248676', 'score': 0.09}]
chr4 GH04I099811 99811904 99812013 0.59 [{'connected_gene': 'MTTP', 'score': 10.88}, {'connected_gene': 'TRMT10A', 'score': 10.88}, {'connected_gene': 'LOC256880', 'score': 10.5}, {'connected_gene': 'H2AFZ', 'score': 10.5}, {'connected_gene': 'DNAJB14', 'score': 10.5}, {'connected_gene': 'DAPP1', 'score': 0.77}, {'connected_gene': 'LOC285556', 'score': 0.39}, {'connected_gene': 'ENSG00000248676', 'score': 0.09}]
chr4 GH04I099571 99571429 99580447 1.58 [{'connected_gene': 'MTTP', 'score': 570.7}, {'connected_gene': 'TRMT10A', 'score': 8.18}, {'connected_gene': 'LOC100507053', 'score': 4.38}, {'connected_gene': 'ADH1B', 'score': 4.1}, {'connected_gene': 'ENSG00000248676', 'score': 0.25}]
chr4 GH04I099582 99582000 99588698 0.83 [{'connected_gene': 'MTTP', 'score': 17.47}, {'connected_gene': 'TRMT10A', 'score': 12.01}, {'connected_gene': 'LOC100507053', 'score': 4.38}, {'connected_gene': 'ADH1B', 'score': 4.1}, {'connected_gene': 'ENSG00000248676', 'score': 0.26}]
chr4 GH04I099562 99562319 99565734 2.07 [{'connected_gene': 'MTTP', 'score': 573.3}, {'connected_gene': 'TRMT10A', 'score': 563.67}]
chr4 GH04I099561 99561001 99561600 1.03 [{'connected_gene': 'MTTP', 'score': 17.9}, {'connected_gene': 'LOC100507053', 'score': 4.38}, {'connected_gene': 'TRMT10A', 'score': 0.77}, {'connected_gene': 'C4orf17', 'score': 0.23}]
chr4 GH04I099824 99824442 99826151 0.58 [{'connected_gene': 'H2AFZ', 'score': 11.29}, {'connected_gene': 'LOC256880', 'score': 11.28}, {'connected_gene': 'DNAJB14', 'score': 11.28}, {'connected_gene': 'MTTP', 'score': 11.03}, {'connected_gene': 'TRMT10A', 'score': 11.03}, {'connected_gene': 'LAMTOR3', 'score': 9.2}, {'connected_gene': 'DAPP1', 'score': 8.93}, {'connected_gene': 'LOC285556', 'score': 0.77}, {'connected_gene': 'ENSG00000279913', 'score': 0.37}]
chr4 GH04I099819 99819836 99823026 1.3 [{'connected_gene': 'LOC285556', 'score': 550.77}, {'connected_gene': 'DNAJB14', 'score': 17.2}, {'connected_gene': 'TRMT10A', 'score': 13.12}, {'connected_gene': 'DAPP1', 'score': 12.77}, {'connected_gene': 'H2AFZ', 'score': 12.4}, {'connected_gene': 'MTTP', 'score': 11.03}, {'connected_gene': 'LOC256880', 'score': 10.59}, {'connected_gene': 'LAMTOR3', 'score': 10.53}, {'connected_gene': 'DDIT4L', 'score': 2.39}]
chr4 GH04I099845 99845009 99848258 1.49 [{'connected_gene': 'DAPP1', 'score': 22.91}, {'connected_gene': 'TRMT10A', 'score': 12.23}, {'connected_gene': 'MTTP', 'score': 10.58}, {'connected_gene': 'LAMTOR3', 'score': 10.0}, {'connected_gene': 'DNAJB14', 'score': 8.06}, {'connected_gene': 'ENSG00000279913', 'score': 0.77}]
chr4 GH04I099841 99841284 99841580 0.65 [{'connected_gene': 'DAPP1', 'score': 32.52}, {'connected_gene': 'TRMT10A', 'score': 11.75}, {'connected_gene': 'MTTP', 'score': 10.34}, {'connected_gene': 'LAMTOR3', 'score': 2.64}, {'connected_gene': 'ENSG00000279913', 'score': 0.77}, {'connected_gene': 'LOC285556', 'score': 0.37}]
chr4 GH04I099860 99860583 99860891 0.6 [{'connected_gene': 'DAPP1', 'score': 15.82}, {'connected_gene': 'TRMT10A', 'score': 12.8}, {'connected_gene': 'MTTP', 'score': 10.94}, {'connected_gene': 'LAMTOR3', 'score': 9.88}, {'connected_gene': 'ADH7', 'score': 5.31}, {'connected_gene': 'ENSG00000279913', 'score': 0.37}]
chr4 GH04I099814 99814898 99818958 2.23 [{'connected_gene': 'DAPP1', 'score': 564.34}, {'connected_gene': 'TRMT10A', 'score': 12.27}, {'connected_gene': 'MTTP', 'score': 10.72}, {'connected_gene': 'DNAJB14', 'score': 10.59}, {'connected_gene': 'LOC256880', 'score': 10.58}, {'connected_gene': 'H2AFZ', 'score': 10.58}, {'connected_gene': 'LAMTOR3', 'score': 6.71}, {'connected_gene': 'LOC285556', 'score': 0.44}]
chr4 GH04I099838 99838291 99839489 0.2 [{'connected_gene': 'DAPP1', 'score': 11.65}, {'connected_gene': 'MTTP', 'score': 10.34}, {'connected_gene': 'TRMT10A', 'score': 10.34}, {'connected_gene': 'LAMTOR3', 'score': 10.04}, {'connected_gene': 'DNAJB14', 'score': 9.5}, {'connected_gene': 'ENSG00000279913', 'score': 0.44}, {'connected_gene': 'LOC285556', 'score': 0.37}]
chr4 GH04I099648 99648227 99656543 0.97 [{'connected_gene': 'ENSG00000248676', 'score': 10.73}, {'connected_gene': 'TRMT10A', 'score': 9.8}, {'connected_gene': 'MTTP', 'score': 6.98}, {'connected_gene': 'LOC285556', 'score': 0.1}, {'connected_gene': 'DAPP1', 'score': 0.1}]
chr4 GH04I099842 99842034 99843311 1.18 [{'connected_gene': 'ENSG00000279913', 'score': 550.77}, {'connected_gene': 'DAPP1', 'score': 11.68}, {'connected_gene': 'TRMT10A', 'score': 10.34}, {'connected_gene': 'MTTP', 'score': 10.34}, {'connected_gene': 'DNAJB14', 'score': 9.29}, {'connected_gene': 'LOC285556', 'score': 0.34}]