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
ENST00000511348 [[100869242, 100870897], [100871324, 100871512]] None
ENST00000511203 [[100869244, 100870097], [100870429, 100871456]] None
ENST00000296417 [[100869244, 100869680], [100869967, 100870097], [100870429, 100870543], [100870819, 100870897], [100871324, 100871545]] [[100869618, 100869680], [100869967, 100870097], [100870429, 100870543], [100870819, 100870897], [100871324, 100871327]]
ENST00000511319 [[100869276, 100869680], [100869967, 100870097], [100870429, 100870543], [100870819, 100871425]] None
ENST00000529158 [[100869328, 100869680], [100869967, 100870097], [100870429, 100870543], [100870819, 100870897], [100871404, 100871456]] None
ENST00000527366 [[100869934, 100870097], [100870429, 100870536], [100870819, 100870897], [100871324, 100871411]] None
NM_002106 [[100869243, 100869680], [100869967, 100870097], [100870429, 100870543], [100870819, 100870897], [100871324, 100871512]] [[100869618, 100869680], [100869967, 100870097], [100870429, 100870543], [100870819, 100870897], [100871324, 100871327]]
Promoter
Chrom Start End Description
chr4 100871420 100871440 CAGE_peak_1_at_H2AFZ_5end
chr4 100871459 100871483 CAGE_peak_2_at_H2AFZ_5end
chr4 100871500 100871501 CAGE_peak_5_at_H2AFZ_5end
chr4 100871506 100871517 CAGE_peak_3_at_H2AFZ_5end
chr4 100871692 100871697 CAGE_peak_8_at_H2AFZ_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
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 GH04I099862 99862869 99864527 0.71 [{'connected_gene': 'DNAJB14', 'score': 20.58}, {'connected_gene': 'DAPP1', 'score': 11.71}, {'connected_gene': 'LOC256880', 'score': 11.49}, {'connected_gene': 'H2AFZ', 'score': 11.49}, {'connected_gene': 'LAMTOR3', 'score': 9.89}, {'connected_gene': 'ENSG00000279913', 'score': 0.37}]
chr4 GH04I099855 99855201 99858200 1.05 [{'connected_gene': 'DNAJB14', 'score': 20.33}, {'connected_gene': 'DAPP1', 'score': 12.22}, {'connected_gene': 'LOC256880', 'score': 11.46}, {'connected_gene': 'H2AFZ', 'score': 11.46}, {'connected_gene': 'ENSG00000279913', 'score': 0.39}, {'connected_gene': 'LAMTOR3', 'score': 0.28}]
chr4 GH04I099944 99944875 99951427 2.11 [{'connected_gene': 'DNAJB14', 'score': 562.96}, {'connected_gene': 'LOC256880', 'score': 550.77}, {'connected_gene': 'H2AFZ', 'score': 550.77}, {'connected_gene': 'LAMTOR3', 'score': 10.29}, {'connected_gene': 'DAPP1', 'score': 6.41}]
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 GH04I099917 99917860 99920089 0.38 [{'connected_gene': 'DNAJB14', 'score': 24.07}, {'connected_gene': 'LOC256880', 'score': 12.63}, {'connected_gene': 'H2AFZ', 'score': 12.63}, {'connected_gene': 'DAPP1', 'score': 7.97}, {'connected_gene': 'ENSG00000279098', 'score': 0.34}, {'connected_gene': 'LAMTOR3', 'score': 0.34}]
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 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 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 GH04I099868 99868008 99868681 0.31 [{'connected_gene': 'DAPP1', 'score': 11.69}, {'connected_gene': 'DNAJB14', 'score': 11.5}, {'connected_gene': 'LOC256880', 'score': 11.5}, {'connected_gene': 'H2AFZ', 'score': 11.5}, {'connected_gene': 'ENSG00000279913', 'score': 0.34}, {'connected_gene': 'LAMTOR3', 'score': 0.31}]
chr4 GH04I099864 99864567 99865892 0.31 [{'connected_gene': 'DAPP1', 'score': 11.71}, {'connected_gene': 'LOC256880', 'score': 11.5}, {'connected_gene': 'DNAJB14', 'score': 11.5}, {'connected_gene': 'H2AFZ', 'score': 11.49}, {'connected_gene': 'ENSG00000279913', 'score': 0.34}, {'connected_gene': 'LAMTOR3', 'score': 0.31}]
chr4 GH04I099966 99966084 99966221 0.31 [{'connected_gene': 'LOC256880', 'score': 0.37}, {'connected_gene': 'H2AFZ', 'score': 0.37}, {'connected_gene': 'LOC644721', 'score': 0.31}]
chr4 GH04I099967 99967964 99969064 0.54 [{'connected_gene': 'LOC256880', 'score': 0.37}, {'connected_gene': 'H2AFZ', 'score': 0.37}, {'connected_gene': 'LOC644721', 'score': 0.34}]
chr4 GH04I100184 100184924 100185048 0.22 [{'connected_gene': 'DDIT4L', 'score': 10.96}, {'connected_gene': 'H2AFZ', 'score': 3.22}, {'connected_gene': 'LOC101929353', 'score': 0.44}, {'connected_gene': 'DYNLL1P6', 'score': 0.11}, {'connected_gene': 'LOC256880', 'score': 0.07}]