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
ENST00000328119 [[39642387, 39642823], [39643201, 39643422], [39643602, 39643728], [39643827, 39643989], [39644494, 39644651], [39644893, 39644976], [39645657, 39646116]] [[39642627, 39642823], [39643201, 39643422], [39643602, 39643728], [39643827, 39643989], [39644494, 39644651], [39644893, 39644976], [39645657, 39646116]]
ENST00000393986 [[39642387, 39642823], [39643201, 39643422], [39643602, 39643728], [39643827, 39643989], [39644494, 39644651], [39644893, 39644976], [39645657, 39645958], [39648577, 39648798]] [[39642627, 39642823], [39643201, 39643422], [39643602, 39643728], [39643827, 39643989], [39644494, 39644651], [39644893, 39644976], [39645657, 39645958], [39648577, 39648585]]
NM_003771 [[39642387, 39642823], [39643201, 39643422], [39643602, 39643728], [39643827, 39643989], [39644494, 39644651], [39644893, 39644976], [39645657, 39646116]] [[39642627, 39642823], [39643201, 39643422], [39643602, 39643728], [39643827, 39643989], [39644494, 39644651], [39644893, 39644976], [39645657, 39646116]]
Promoter
Chrom Start End Description
chr17 39646159 39646164 CAGE_peak_1_at_KRT36_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I041490 41490162 41490980 0.54 [{'connected_gene': 'KRT36', 'score': 6.51}, {'connected_gene': 'KRT38', 'score': 5.46}, {'connected_gene': 'KRT35', 'score': 0.44}]
chr17 GH17I041489 41489900 41489959 0.5 [{'connected_gene': 'KRT36', 'score': 550.77}, {'connected_gene': 'KRT35', 'score': 0.44}]
chr17 GH17I041492 41492311 41493466 0.79 [{'connected_gene': 'KRT36', 'score': 550.77}, {'connected_gene': 'KRT34', 'score': 5.5}, {'connected_gene': 'KRT38', 'score': 5.01}, {'connected_gene': 'KRT35', 'score': 0.39}]
chr17 GH17I041532 41532302 41533966 0.83 [{'connected_gene': 'KRT36', 'score': 11.1}, {'connected_gene': 'KRT14', 'score': 10.88}, {'connected_gene': 'LOC100505782', 'score': 9.78}, {'connected_gene': 'KRT31', 'score': 9.69}, {'connected_gene': 'ENSG00000234477', 'score': 9.36}, {'connected_gene': 'KRT19', 'score': 9.26}, {'connected_gene': 'LINC00974', 'score': 0.34}]
chr17 GH17I041338 41338033 41343989 0.96 [{'connected_gene': 'KRT38', 'score': 20.57}, {'connected_gene': 'KRTAP16-1', 'score': 10.63}, {'connected_gene': 'KRTAP29-1', 'score': 10.61}, {'connected_gene': 'KRT31', 'score': 10.3}, {'connected_gene': 'LOC100505782', 'score': 10.28}, {'connected_gene': 'KRTAP17-1', 'score': 10.24}, {'connected_gene': 'KRTAP9-6', 'score': 10.09}, {'connected_gene': 'KRT37', 'score': 10.04}, {'connected_gene': 'ENSG00000234477', 'score': 9.95}, {'connected_gene': 'KRT32', 'score': 9.84}, {'connected_gene': 'RNU2-32P', 'score': 9.84}, {'connected_gene': 'KRTAP1-1', 'score': 9.82}, {'connected_gene': 'KRTAP1-3', 'score': 9.82}, {'connected_gene': 'KRTAP1-4', 'score': 9.81}, {'connected_gene': 'KRT40', 'score': 9.42}, {'connected_gene': 'KRT20', 'score': 9.39}, {'connected_gene': 'KRTAP2-5P', 'score': 9.36}, {'connected_gene': 'KRTAP2-4', 'score': 9.36}, {'connected_gene': 'KRT23', 'score': 8.62}, {'connected_gene': 'KRT36', 'score': 6.02}, {'connected_gene': 'ENSG00000108516', 'score': 0.44}, {'connected_gene': 'KRT33A', 'score': 0.44}]
chr17 GH17I041315 41315700 41315759 0.68 [{'connected_gene': 'KRTAP17-1', 'score': 550.77}, {'connected_gene': 'KRT36', 'score': 6.56}, {'connected_gene': 'TBC1D3P7', 'score': 0.44}]
chr17 GH17I041486 41486929 41487058 0.64 [{'connected_gene': 'KRT35', 'score': 0.77}, {'connected_gene': 'KRT36', 'score': 0.44}]
chr17 GH17I041377 41377204 41382734 0.76 [{'connected_gene': 'KRT34', 'score': 42.19}, {'connected_gene': 'KRT38', 'score': 19.33}, {'connected_gene': 'KRT32', 'score': 12.99}, {'connected_gene': 'KRT36', 'score': 6.64}, {'connected_gene': 'KRT33B', 'score': 0.39}]
chr17 GH17I041414 41414948 41421905 1.1 [{'connected_gene': 'KRT34', 'score': 37.98}, {'connected_gene': 'KRT32', 'score': 17.5}, {'connected_gene': 'KRT38', 'score': 8.95}, {'connected_gene': 'KRT36', 'score': 6.99}, {'connected_gene': 'KRT31', 'score': 6.63}, {'connected_gene': 'KRT37', 'score': 0.44}, {'connected_gene': 'KRT41P', 'score': 0.44}, {'connected_gene': 'LOC100505782', 'score': 0.37}]
chr17 GH17I041367 41367273 41368380 0.58 [{'connected_gene': 'KRT33B', 'score': 550.77}, {'connected_gene': 'KRT38', 'score': 10.67}, {'connected_gene': 'KRT36', 'score': 6.48}, {'connected_gene': 'KRT33A', 'score': 0.37}]
chr17 GH17I041496 41496369 41499000 1.59 [{'connected_gene': 'KRT32', 'score': 15.32}, {'connected_gene': 'KRT31', 'score': 6.26}, {'connected_gene': 'LOC100505782', 'score': 4.26}, {'connected_gene': 'ENSG00000229732', 'score': 0.77}, {'connected_gene': 'KRT36', 'score': 0.77}]
chr17 GH17I041518 41518469 41532039 2.8 [{'connected_gene': 'KRT19', 'score': 562.19}, {'connected_gene': 'KRT15', 'score': 556.16}, {'connected_gene': 'ENSG00000267758', 'score': 25.12}, {'connected_gene': 'SMARCE1', 'score': 21.17}, {'connected_gene': 'ACLY', 'score': 11.64}, {'connected_gene': 'DHX58', 'score': 11.19}, {'connected_gene': 'KRT36', 'score': 11.12}, {'connected_gene': 'ENSG00000259623', 'score': 11.03}, {'connected_gene': 'KRT14', 'score': 10.86}, {'connected_gene': 'STAT5A', 'score': 10.08}, {'connected_gene': 'LOC100505782', 'score': 9.78}, {'connected_gene': 'KRT31', 'score': 9.7}, {'connected_gene': 'ENSG00000234477', 'score': 9.36}, {'connected_gene': 'KRTAP9-2', 'score': 2.53}, {'connected_gene': 'KRTAP2-1', 'score': 2.23}, {'connected_gene': 'KRTAP2-2', 'score': 1.8}, {'connected_gene': 'KRTAP9-9', 'score': 1.75}, {'connected_gene': 'KRTAP9-1', 'score': 1.75}, {'connected_gene': 'KRTAP4-11', 'score': 1.59}, {'connected_gene': 'JUP', 'score': 1.55}]
chr17 GH17I041620 41620949 41627446 1.63 [{'connected_gene': 'KRT17', 'score': 554.56}, {'connected_gene': 'GC17M041622', 'score': 550.77}, {'connected_gene': 'GC17M041625', 'score': 550.77}, {'connected_gene': 'KRT9', 'score': 16.59}, {'connected_gene': 'KRT15', 'score': 13.38}, {'connected_gene': 'KRT14', 'score': 12.71}, {'connected_gene': 'KRT19', 'score': 12.27}, {'connected_gene': 'KRT40', 'score': 9.78}, {'connected_gene': 'ENSG00000234477', 'score': 9.37}, {'connected_gene': 'KRT37', 'score': 9.35}, {'connected_gene': 'KRT16', 'score': 7.62}, {'connected_gene': 'KRT36', 'score': 5.04}, {'connected_gene': 'JUP', 'score': 4.69}, {'connected_gene': 'CNP', 'score': 4.3}, {'connected_gene': 'RAB5C', 'score': 3.96}, {'connected_gene': 'KRT13', 'score': 1.59}, {'connected_gene': 'KRT42P', 'score': 0.37}]
chr17 GH17I041578 41578874 41589513 1.95 [{'connected_gene': 'KRT14', 'score': 555.67}, {'connected_gene': 'KRT16', 'score': 13.02}, {'connected_gene': 'JUP', 'score': 6.56}, {'connected_gene': 'KRT36', 'score': 6.06}, {'connected_gene': 'KRT9', 'score': 5.75}, {'connected_gene': 'KRT15', 'score': 4.76}, {'connected_gene': 'KRT17', 'score': 4.11}, {'connected_gene': 'KRT13', 'score': 4.01}, {'connected_gene': 'KRT19', 'score': 2.88}]
chr17 GH17I041506 41506481 41506658 1.09 [{'connected_gene': 'KRT13', 'score': 552.43}, {'connected_gene': 'KRT9', 'score': 10.18}, {'connected_gene': 'KRT36', 'score': 5.63}, {'connected_gene': 'KRTAP3-1', 'score': 5.13}, {'connected_gene': 'JUP', 'score': 3.25}, {'connected_gene': 'KRT19', 'score': 2.72}, {'connected_gene': 'MIR6510', 'score': 0.39}]
chr17 GH17I041791 41791636 41796772 1.7 [{'connected_gene': 'JUP', 'score': 93.77}, {'connected_gene': 'NT5C3B', 'score': 14.29}, {'connected_gene': 'KLHL11', 'score': 11.21}, {'connected_gene': 'KRT15', 'score': 6.89}, {'connected_gene': 'ENSG00000267632', 'score': 5.1}, {'connected_gene': 'TUBG2', 'score': 4.53}, {'connected_gene': 'ACLY', 'score': 4.32}, {'connected_gene': 'KRT19', 'score': 3.99}, {'connected_gene': 'KRT16', 'score': 3.84}, {'connected_gene': 'KRT17', 'score': 3.45}, {'connected_gene': 'KRT9', 'score': 2.29}, {'connected_gene': 'KRT14', 'score': 1.77}, {'connected_gene': 'KRT36', 'score': 1.34}, {'connected_gene': 'PIR32942', 'score': 0.44}, {'connected_gene': 'PIR33798', 'score': 0.37}]
chr17 GH17I041401 41401957 41405386 1.15 [{'connected_gene': 'LOC100505782', 'score': 550.77}, {'connected_gene': 'KRT34', 'score': 38.24}, {'connected_gene': 'KRT38', 'score': 18.08}, {'connected_gene': 'ENSG00000267758', 'score': 11.28}, {'connected_gene': 'KRT36', 'score': 6.85}, {'connected_gene': 'KRT41P', 'score': 0.44}]
chr17 GH17I041307 41307526 41310034 1.24 [{'connected_gene': 'KRTAP16-1', 'score': 550.77}, {'connected_gene': 'KRT38', 'score': 9.76}, {'connected_gene': 'KRT31', 'score': 5.94}, {'connected_gene': 'KRT36', 'score': 5.77}, {'connected_gene': 'TOP2A', 'score': 5.24}, {'connected_gene': 'KRTAP29-1', 'score': 0.44}]
chr17 GH17I041499 41499613 41500932 1.52 [{'connected_gene': 'ENSG00000229732', 'score': 550.77}, {'connected_gene': 'KRTAP2-1', 'score': 7.15}, {'connected_gene': 'KRTAP9-2', 'score': 5.39}, {'connected_gene': 'KRT38', 'score': 5.38}, {'connected_gene': 'KRTAP2-2', 'score': 5.25}, {'connected_gene': 'KRTAP9-1', 'score': 5.17}, {'connected_gene': 'KRTAP9-9', 'score': 4.78}, {'connected_gene': 'KRT34', 'score': 4.16}, {'connected_gene': 'KRT37', 'score': 2.64}, {'connected_gene': 'KRTAP2-4', 'score': 1.58}, {'connected_gene': 'KRT36', 'score': 0.44}]
chr17 GH17I041534 41534567 41539918 1.26 [{'connected_gene': 'ENSG00000267758', 'score': 13.96}, {'connected_gene': 'SMARCE1', 'score': 12.9}, {'connected_gene': 'KRT36', 'score': 10.58}, {'connected_gene': 'STAT5A', 'score': 10.55}, {'connected_gene': 'KRT35', 'score': 10.53}, {'connected_gene': 'GHDC', 'score': 10.37}, {'connected_gene': 'NAGLU', 'score': 10.16}, {'connected_gene': 'KRT31', 'score': 9.85}, {'connected_gene': 'LOC100505782', 'score': 9.85}, {'connected_gene': 'KRT19', 'score': 6.56}, {'connected_gene': 'KRTAP2-1', 'score': 6.27}, {'connected_gene': 'KRTAP2-2', 'score': 4.82}, {'connected_gene': 'KRTAP9-1', 'score': 4.79}, {'connected_gene': 'KRTAP9-2', 'score': 4.34}, {'connected_gene': 'KRTAP9-9', 'score': 4.24}, {'connected_gene': 'KRT37', 'score': 1.9}, {'connected_gene': 'LINC00974', 'score': 0.37}]
chr17 GH17I041649 41649756 41659535 1.64 [{'connected_gene': 'ENSG00000267758', 'score': 25.24}, {'connected_gene': 'JUP', 'score': 20.78}, {'connected_gene': 'HSD17B1', 'score': 20.59}, {'connected_gene': 'DHX58', 'score': 19.59}, {'connected_gene': 'GHDC', 'score': 19.26}, {'connected_gene': 'ENSG00000259623', 'score': 16.31}, {'connected_gene': 'KRT14', 'score': 16.17}, {'connected_gene': 'CNP', 'score': 13.3}, {'connected_gene': 'PSMC3IP', 'score': 13.05}, {'connected_gene': 'RETREG3', 'score': 12.93}, {'connected_gene': 'KRT37', 'score': 11.39}, {'connected_gene': 'HSD17B1P1', 'score': 11.02}, {'connected_gene': 'NT5C3B', 'score': 10.96}, {'connected_gene': 'STAT5A', 'score': 10.55}, {'connected_gene': 'COASY', 'score': 10.46}, {'connected_gene': 'NAGLU', 'score': 10.16}, {'connected_gene': 'KAT2A', 'score': 9.79}, {'connected_gene': 'ENSG00000236194', 'score': 6.49}, {'connected_gene': 'KRT17', 'score': 6.03}, {'connected_gene': 'KRT16', 'score': 5.84}, {'connected_gene': 'HAP1', 'score': 5.52}, {'connected_gene': 'KRT42P', 'score': 5.49}, {'connected_gene': 'C17orf113', 'score': 5.42}, {'connected_gene': 'KRT19', 'score': 4.84}, {'connected_gene': 'KRT15', 'score': 2.41}, {'connected_gene': 'KRT9', 'score': 2.02}, {'connected_gene': 'KRT36', 'score': 1.7}, {'connected_gene': 'ENSG00000278954', 'score': 0.39}]

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