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
ENST00000246646 [[39592697, 39593793], [39594344, 39594565], [39594742, 39594868], [39594948, 39595110], [39595454, 39595611], [39596412, 39596495], [39596681, 39597173]] [[39593663, 39593793], [39594344, 39594565], [39594742, 39594868], [39594948, 39595110], [39595454, 39595611], [39596412, 39596495], [39596681, 39597173]]
NM_006771 [[39592620, 39593793], [39594344, 39594565], [39594742, 39594868], [39594948, 39595110], [39595454, 39595611], [39596412, 39596495], [39596681, 39597596]] [[39593663, 39593793], [39594344, 39594565], [39594742, 39594868], [39594948, 39595110], [39595454, 39595611], [39596412, 39596495], [39596681, 39597173]]

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 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 GH17I041424 41424575 41424634 0.5 [{'connected_gene': 'KRT37', 'score': 550.77}, {'connected_gene': 'KRT38', 'score': 0.37}, {'connected_gene': 'LOC100505782', 'score': 0.34}]
chr17 GH17I041440 41440906 41440965 0.5 [{'connected_gene': 'KRT38', 'score': 550.77}, {'connected_gene': 'KRT37', 'score': 0.37}]
chr17 GH17I041183 41182629 41182778 0.59 [{'connected_gene': 'KRT38', 'score': 8.48}, {'connected_gene': 'KRTAP4-2', 'score': 0.77}, {'connected_gene': 'GC17M041182', 'score': 0.77}, {'connected_gene': 'KRTAP4-1', 'score': 0.77}]
chr17 GH17I041391 41391597 41392379 0.31 [{'connected_gene': 'KRT38', 'score': 9.26}, {'connected_gene': 'TOP2A', 'score': 4.12}, {'connected_gene': 'KRT34', 'score': 0.44}, {'connected_gene': 'KRT31', 'score': 0.44}]
chr17 GH17I041392 41392746 41392947 0.2 [{'connected_gene': 'KRT38', 'score': 7.86}, {'connected_gene': 'KRT31', 'score': 0.77}, {'connected_gene': 'KRT34', 'score': 0.44}]
chr17 GH17I041347 41347923 41348925 0.51 [{'connected_gene': 'KRT38', 'score': 9.18}, {'connected_gene': 'KRT31', 'score': 5.88}, {'connected_gene': 'KRT33A', 'score': 0.77}, {'connected_gene': 'ENSG00000108516', 'score': 0.39}]
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 GH17I041446 41446969 41447118 0.31 [{'connected_gene': 'KRT38', 'score': 7.41}, {'connected_gene': 'KRT43P', 'score': 0.44}]
chr17 GH17I041178 41178203 41179116 0.88 [{'connected_gene': 'KRTAP4-2', 'score': 550.77}, {'connected_gene': 'KRT38', 'score': 8.65}, {'connected_gene': 'KRTAP4-1', 'score': 0.44}]
chr17 GH17I041352 41352992 41353325 0.66 [{'connected_gene': 'KRTAP2-1', 'score': 12.89}, {'connected_gene': 'KRTAP9-1', 'score': 9.33}, {'connected_gene': 'KRTAP2-2', 'score': 9.26}, {'connected_gene': 'KRTAP9-2', 'score': 8.89}, {'connected_gene': 'KRTAP9-9', 'score': 8.32}, {'connected_gene': 'KRT37', 'score': 4.16}, {'connected_gene': 'KRT40', 'score': 2.89}, {'connected_gene': 'KRTAP2-4', 'score': 1.96}, {'connected_gene': 'KRT35', 'score': 1.57}, {'connected_gene': 'KRT38', 'score': 1.52}, {'connected_gene': 'KRT33A', 'score': 0.77}, {'connected_gene': 'KRT33B', 'score': 0.37}]
chr17 GH17I041058 41058207 41063886 1.75 [{'connected_gene': 'KRTAP2-3', 'score': 555.41}, {'connected_gene': 'KRTAP1-3', 'score': 11.81}, {'connected_gene': 'KRTAP1-4', 'score': 11.79}, {'connected_gene': 'KRTAP1-5', 'score': 11.08}, {'connected_gene': 'KRT38', 'score': 4.76}, {'connected_gene': 'KRT27', 'score': 4.31}, {'connected_gene': 'KRTAP2-4', 'score': 0.77}, {'connected_gene': 'GC17M041060', 'score': 0.39}]
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 GH17I041397 41397090 41398204 0.7 [{'connected_gene': 'KRT31', 'score': 558.05}, {'connected_gene': 'GC17P041399', 'score': 550.77}, {'connected_gene': 'KRT38', 'score': 10.18}]
chr17 GH17I040908 40908603 40917347 1.68 [{'connected_gene': 'KRT23', 'score': 18.92}, {'connected_gene': 'KRTAP3-2', 'score': 15.5}, {'connected_gene': 'MSL1', 'score': 11.03}, {'connected_gene': 'KRT20', 'score': 10.7}, {'connected_gene': 'TMEM99', 'score': 10.03}, {'connected_gene': 'KRT37', 'score': 9.73}, {'connected_gene': 'KRT28', 'score': 9.65}, {'connected_gene': 'KRT40', 'score': 9.55}, {'connected_gene': 'LOC100505782', 'score': 9.3}, {'connected_gene': 'KRT31', 'score': 9.29}, {'connected_gene': 'KRT38', 'score': 9.04}, {'connected_gene': 'KRT19', 'score': 4.71}, {'connected_gene': 'KRTAP1-5', 'score': 3.88}, {'connected_gene': 'KRTAP1-1', 'score': 3.26}, {'connected_gene': 'IGFBP4', 'score': 1.73}, {'connected_gene': 'GC17P040955', 'score': 0.44}, {'connected_gene': 'LOC105371777', 'score': 0.21}]
chr17 GH17I040900 40900290 40905306 1.42 [{'connected_gene': 'KRT23', 'score': 14.48}, {'connected_gene': 'SNORD124', 'score': 12.38}, {'connected_gene': 'KRT12', 'score': 10.98}, {'connected_gene': 'TMEM99', 'score': 10.06}, {'connected_gene': 'KRT28', 'score': 9.87}, {'connected_gene': 'KRTAP3-2', 'score': 9.77}, {'connected_gene': 'KRT40', 'score': 9.73}, {'connected_gene': 'KRT37', 'score': 9.68}, {'connected_gene': 'KRT38', 'score': 9.3}, {'connected_gene': 'KRT26', 'score': 9.14}, {'connected_gene': 'KRTAP3-1', 'score': 8.61}, {'connected_gene': 'GC17P040955', 'score': 0.37}, {'connected_gene': 'KRT20', 'score': 0.37}, {'connected_gene': 'LOC105371777', 'score': 0.23}]
chr17 GH17I041322 41322238 41323078 0.64 [{'connected_gene': 'TBC1D3P7', 'score': 550.77}, {'connected_gene': 'KRT38', 'score': 11.17}, {'connected_gene': 'KRTAP17-1', 'score': 0.44}]
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 GH17I041184 41184901 41184960 0.61 [{'connected_gene': 'GC17M041182', 'score': 550.77}, {'connected_gene': 'KRTAP4-1', 'score': 550.77}, {'connected_gene': 'KRT38', 'score': 7.33}, {'connected_gene': 'KRTAP4-2', 'score': 0.44}]
chr17 GH17I041557 41557145 41557543 0.22 [{'connected_gene': 'GC17M041544', 'score': 550.77}, {'connected_gene': 'KRTAP9-2', 'score': 21.61}, {'connected_gene': 'KRTAP9-1', 'score': 12.68}, {'connected_gene': 'KRTAP9-9', 'score': 11.79}, {'connected_gene': 'KRT16', 'score': 7.03}, {'connected_gene': 'KRT37', 'score': 4.05}, {'connected_gene': 'KRTAP2-4', 'score': 2.3}, {'connected_gene': 'KRT38', 'score': 2.26}, {'connected_gene': 'KRT35', 'score': 1.97}, {'connected_gene': 'KRT9', 'score': 0.39}]
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}]