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
ENST00000499666 [[100799492, 100803224], [100805218, 100805282], [100806698, 100806832], [100808452, 100808511], [100813156, 100813191], [100815111, 100815157], [100815491, 100815647]] [[100803150, 100803224], [100805218, 100805282], [100806698, 100806832], [100808452, 100808511], [100813156, 100813191], [100815111, 100815120]]
ENST00000226522 [[100802363, 100803224], [100805218, 100805282], [100806698, 100806811], [100808452, 100808511], [100813156, 100813191], [100815111, 100815157], [100815491, 100815533]] [[100803150, 100803224], [100805218, 100805282], [100806698, 100806811], [100808452, 100808511], [100813156, 100813191], [100815111, 100815120]]
ENST00000515100 [[100802649, 100803224], [100805218, 100805282], [100806698, 100806832], [100808452, 100808511], [100813156, 100813191], [100815491, 100815585]] None
NM_021970 [[100799494, 100803224], [100805218, 100805282], [100806698, 100806832], [100808452, 100808511], [100813156, 100813191], [100815111, 100815157], [100815491, 100815703]] [[100803150, 100803224], [100805218, 100805282], [100806698, 100806832], [100808452, 100808511], [100813156, 100813191], [100815111, 100815120]]
NM_001243736 [[100799494, 100803224], [100805218, 100805282], [100806698, 100806811], [100808452, 100808511], [100813156, 100813191], [100815111, 100815157], [100815491, 100815703]] [[100803150, 100803224], [100805218, 100805282], [100806698, 100806811], [100808452, 100808511], [100813156, 100813191], [100815111, 100815120]]
NR_024170 [[100799494, 100803224], [100805218, 100805282], [100806698, 100806832], [100808452, 100808511], [100813156, 100813191], [100815491, 100815703]] None
Promoter
Chrom Start End Description
chr4 100815525 100815622 CAGE_peak_1_at_LAMTOR3_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 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 GH04I100007 100007785 100008852 0.2 [{'connected_gene': 'LAMTOR3', 'score': 9.6}, {'connected_gene': 'LOC644721', 'score': 0.37}, {'connected_gene': 'DYNLL1P6', 'score': 0.29}, {'connected_gene': 'LOC256880', 'score': 0.22}]
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 GH04I100086 100086684 100087849 0.38 [{'connected_gene': 'LAMTOR3', 'score': 7.15}, {'connected_gene': 'DYNLL1P6', 'score': 0.25}, {'connected_gene': 'LOC101929353', 'score': 0.15}, {'connected_gene': 'LOC256880', 'score': 0.12}]
chr4 GH04I100340 100340812 100341031 0.23 [{'connected_gene': 'LAMTOR3', 'score': 3.27}, {'connected_gene': 'GC04M100396', 'score': 0.22}, {'connected_gene': 'GC04P100245', 'score': 0.15}, {'connected_gene': 'PIR53160', 'score': 0.15}]
chr4 GH04I100095 100095801 100096400 0.96 [{'connected_gene': 'DNAJB14', 'score': 7.6}, {'connected_gene': 'LAMTOR3', 'score': 7.21}, {'connected_gene': 'DYNLL1P6', 'score': 0.23}, {'connected_gene': 'LOC101929353', 'score': 0.16}, {'connected_gene': 'LOC256880', 'score': 0.11}]
chr4 GH04I100093 100093064 100094309 1.16 [{'connected_gene': 'DNAJB14', 'score': 8.83}, {'connected_gene': 'LAMTOR3', 'score': 7.29}, {'connected_gene': 'DYNLL1P6', 'score': 0.23}, {'connected_gene': 'LOC101929353', 'score': 0.15}, {'connected_gene': 'LOC256880', 'score': 0.11}]
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 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 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 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 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 GH04I099851 99851015 99852013 0.99 [{'connected_gene': 'ENSG00000279913', 'score': 0.44}, {'connected_gene': 'DAPP1', 'score': 0.29}, {'connected_gene': 'LAMTOR3', 'score': 0.26}]