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
ENST00000251645 [[39549975, 39550421], [39551099, 39551320], [39551496, 39551622], [39551713, 39551875], [39552671, 39552828], [39553164, 39553247], [39553443, 39553844]] [[39550267, 39550421], [39551099, 39551320], [39551496, 39551622], [39551713, 39551875], [39552671, 39552828], [39553164, 39553247], [39553443, 39553791]]
NM_002277 [[39549975, 39550421], [39551099, 39551320], [39551496, 39551622], [39551713, 39551875], [39552671, 39552828], [39553164, 39553247], [39553443, 39553844]] [[39550267, 39550421], [39551099, 39551320], [39551496, 39551622], [39551713, 39551875], [39552671, 39552828], [39553164, 39553247], [39553443, 39553791]]
Promoter
Chrom Start End Description
chr17 39553443 39553452 CAGE_peak_2_at_KRT31_5end
chr17 39553812 39553817 CAGE_peak_3_at_KRT31_5end
chr17 39553852 39553863 CAGE_peak_1_at_KRT31_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
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 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 GH17I040948 40948885 40960541 1.66 [{'connected_gene': 'KRTAP3-2', 'score': 14.79}, {'connected_gene': 'KRT23', 'score': 14.29}, {'connected_gene': 'KRTAP2-1', 'score': 12.09}, {'connected_gene': 'KRT39', 'score': 11.35}, {'connected_gene': 'KRT40', 'score': 10.72}, {'connected_gene': 'KRTAP2-2', 'score': 10.64}, {'connected_gene': 'ENSG00000234477', 'score': 10.6}, {'connected_gene': 'KRTAP3-3', 'score': 10.48}, {'connected_gene': 'KRTAP1-5', 'score': 10.4}, {'connected_gene': 'KRTAP3-1', 'score': 10.15}, {'connected_gene': 'KRTAP1-4', 'score': 9.98}, {'connected_gene': 'KRTAP2-3', 'score': 9.98}, {'connected_gene': 'KRT20', 'score': 9.83}, {'connected_gene': 'KRTAP4-6', 'score': 9.53}, {'connected_gene': 'LOC100505782', 'score': 9.45}, {'connected_gene': 'KRT19', 'score': 9.43}, {'connected_gene': 'KRT15', 'score': 9.42}, {'connected_gene': 'KRT31', 'score': 9.3}, {'connected_gene': 'KRT34', 'score': 4.8}, {'connected_gene': 'KRTAP9-2', 'score': 1.36}]
chr17 GH17I040857 40857129 40857400 0.99 [{'connected_gene': 'THRA', 'score': 15.83}, {'connected_gene': 'ENSG00000259623', 'score': 12.29}, {'connected_gene': 'KRT20', 'score': 11.23}, {'connected_gene': 'KRT28', 'score': 10.63}, {'connected_gene': 'KRT222', 'score': 10.33}, {'connected_gene': 'KRTAP1-5', 'score': 9.82}, {'connected_gene': 'KRT37', 'score': 9.41}, {'connected_gene': 'KRTAP1-4', 'score': 9.23}, {'connected_gene': 'LOC100505782', 'score': 9.0}, {'connected_gene': 'KRT31', 'score': 9.0}, {'connected_gene': 'GC17P040954', 'score': 0.44}, {'connected_gene': 'ENSG00000265359', 'score': 0.44}, {'connected_gene': 'KRT12', 'score': 0.44}, {'connected_gene': 'LOC105371777', 'score': 0.44}]
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 GH17I041393 41392409 41392578 0.2 [{'connected_gene': 'KRT34', 'score': 0.44}, {'connected_gene': 'KRT31', 'score': 0.44}]
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 GH17I041397 41397090 41398204 0.7 [{'connected_gene': 'KRT31', 'score': 558.05}, {'connected_gene': 'GC17P041399', 'score': 550.77}, {'connected_gene': 'KRT38', 'score': 10.18}]
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 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 GH17I040858 40857569 40857718 0.43 [{'connected_gene': 'TMEM99', 'score': 16.67}, {'connected_gene': 'KRT20', 'score': 11.23}, {'connected_gene': 'KRT28', 'score': 9.66}, {'connected_gene': 'KRTAP1-4', 'score': 9.23}, {'connected_gene': 'KRT31', 'score': 9.0}, {'connected_gene': 'LOC100505782', 'score': 9.0}, {'connected_gene': 'GC17P040954', 'score': 0.44}, {'connected_gene': 'ENSG00000265359', 'score': 0.44}, {'connected_gene': 'KRT12', 'score': 0.44}, {'connected_gene': 'LOC105371777', 'score': 0.44}]
chr17 GH17I041084 41084101 41084160 0.73 [{'connected_gene': 'KRTAP4-7', 'score': 550.77}, {'connected_gene': 'KRTAP1-5', 'score': 11.1}, {'connected_gene': 'KRTAP1-1', 'score': 10.98}, {'connected_gene': 'KRTAP1-3', 'score': 10.97}, {'connected_gene': 'KRTAP1-4', 'score': 10.95}, {'connected_gene': 'KRTAP2-3', 'score': 10.92}, {'connected_gene': 'KRTAP4-4', 'score': 10.21}, {'connected_gene': 'KRTAP4-3', 'score': 10.2}, {'connected_gene': 'KRTAP4-5', 'score': 9.91}, {'connected_gene': 'KRT37', 'score': 9.58}, {'connected_gene': 'KRTAP3-2', 'score': 9.42}, {'connected_gene': 'KRT31', 'score': 8.78}, {'connected_gene': 'LOC100505782', 'score': 8.78}, {'connected_gene': 'GC17M041060', '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 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 GH17I041333 41333787 41335553 0.51 [{'connected_gene': 'ENSG00000108516', 'score': 550.77}, {'connected_gene': 'KRT34', 'score': 36.98}, {'connected_gene': 'KRTAP29-1', 'score': 11.12}, {'connected_gene': 'KRT31', 'score': 10.35}, {'connected_gene': 'LOC100505782', 'score': 10.35}, {'connected_gene': 'KRT37', 'score': 9.72}, {'connected_gene': 'ENSG00000234477', 'score': 9.55}, {'connected_gene': 'KRT40', 'score': 9.36}, {'connected_gene': 'KRT33A', 'score': 0.37}]
chr17 GH17I040848 40848621 40855486 1.15 [{'connected_gene': 'GC17P040954', 'score': 550.77}, {'connected_gene': 'ENSG00000265359', 'score': 550.77}, {'connected_gene': 'TMEM99', 'score': 32.44}, {'connected_gene': 'KRT20', 'score': 10.9}, {'connected_gene': 'KRT28', 'score': 10.64}, {'connected_gene': 'ENSG00000234477', 'score': 10.0}, {'connected_gene': 'KRT37', 'score': 9.65}, {'connected_gene': 'LOC100505782', 'score': 9.15}, {'connected_gene': 'KRT31', 'score': 9.15}, {'connected_gene': 'MED24', 'score': 6.06}, {'connected_gene': 'LOC105371777', 'score': 0.77}]
chr17 GH17I041336 41336169 41336318 0.31 [{'connected_gene': 'ENSG00000108516', 'score': 550.77}, {'connected_gene': 'KRTAP29-1', 'score': 10.48}, {'connected_gene': 'KRTAP16-1', 'score': 10.37}, {'connected_gene': 'KRTAP17-1', 'score': 10.27}, {'connected_gene': 'KRTAP9-6', 'score': 10.1}, {'connected_gene': 'KRT31', 'score': 10.04}, {'connected_gene': 'KRT37', 'score': 10.03}, {'connected_gene': 'LOC100505782', 'score': 10.03}, {'connected_gene': 'ENSG00000234477', 'score': 9.95}, {'connected_gene': 'KRT32', 'score': 9.83}, {'connected_gene': 'RNU2-32P', 'score': 9.83}, {'connected_gene': 'KRTAP1-1', 'score': 9.82}, {'connected_gene': 'KRTAP1-4', 'score': 9.82}, {'connected_gene': 'KRTAP1-3', 'score': 9.81}, {'connected_gene': 'KRT40', 'score': 9.42}, {'connected_gene': 'KRTAP2-5P', 'score': 9.37}, {'connected_gene': 'KRTAP2-4', 'score': 9.36}, {'connected_gene': 'KRT33A', 'score': 0.39}]

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