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
ENST00000418691 [[27778949, 27779169], [27788136, 27788305], [27797649, 27797752], [27805452, 27805601]] [[27788143, 27788305], [27797649, 27797752], [27805452, 27805601]]
ENST00000543117 [[27778991, 27779169], [27788136, 27788305], [27797649, 27797752], [27805452, 27805640], [27809294, 27809453], [27824781, 27824930], [27825017, 27825108], [27827036, 27827222], [27831624, 27831849], [27832684, 27832831], [27833941, 27834065], [27835734, 27835838], [27839583, 27839709], [27855967, 27856013], [27856508, 27856657], [27867356, 27867439], [27868246, 27868712]] [[27788143, 27788305], [27797649, 27797752], [27805452, 27805640], [27809294, 27809453], [27824781, 27824930], [27825017, 27825108], [27827036, 27827222], [27831624, 27831849], [27832684, 27832831], [27833941, 27834065], [27835734, 27835838], [27839583, 27839709], [27855967, 27856013], [27856508, 27856657], [27867356, 27867439], [27868246, 27868448]]
ENST00000422800 [[27779220, 27779487], [27788136, 27788305], [27797649, 27797752], [27805452, 27805483]] [[27788143, 27788305], [27797649, 27797752], [27805452, 27805483]]
ENST00000265393 [[27779713, 27779888], [27788136, 27788305], [27797649, 27797752], [27805452, 27805640], [27809294, 27809453], [27824781, 27824930], [27825017, 27825108], [27827036, 27827222], [27831624, 27831849], [27832684, 27832831], [27833941, 27834065], [27835734, 27835838], [27839583, 27839709], [27855967, 27856013], [27856508, 27856657], [27867356, 27867439], [27868246, 27868500]] [[27788143, 27788305], [27797649, 27797752], [27805452, 27805640], [27809294, 27809453], [27824781, 27824930], [27825017, 27825108], [27827036, 27827222], [27831624, 27831849], [27832684, 27832831], [27833941, 27834065], [27835734, 27835838], [27839583, 27839709], [27855967, 27856013], [27856508, 27856657], [27867356, 27867439], [27868246, 27868448]]
ENST00000409980 [[27779760, 27779888], [27788136, 27788305], [27797649, 27797752], [27805452, 27805640], [27809294, 27809453], [27824781, 27824930], [27825017, 27825108], [27827036, 27827222], [27831624, 27831849], [27832684, 27832831], [27833941, 27834065], [27835734, 27835838], [27839583, 27839709], [27842727, 27842799], [27855967, 27856139], [27856508, 27856657], [27867356, 27867439], [27868246, 27868500]] [[27788143, 27788305], [27797649, 27797752], [27805452, 27805640], [27809294, 27809453], [27824781, 27824930], [27825017, 27825108], [27827036, 27827222], [27831624, 27831849], [27832684, 27832831], [27833941, 27834065], [27835734, 27835838], [27839583, 27839709], [27842727, 27842799], [27855967, 27856139], [27856508, 27856657], [27867356, 27867439], [27868246, 27868448]]
ENST00000416801 [[27779765, 27779888], [27788136, 27788305], [27797649, 27797752], [27809294, 27809453], [27824781, 27824930], [27825017, 27825108], [27827036, 27827222], [27831624, 27831849], [27832684, 27832831], [27833941, 27834065], [27835734, 27835838], [27839583, 27839709], [27855967, 27856013], [27856508, 27856657], [27867356, 27867439], [27868246, 27868483]] [[27788143, 27788305], [27797649, 27797752], [27809294, 27809305]]
ENST00000433216 [[27779765, 27779888], [27788136, 27788305], [27797649, 27797752], [27809294, 27809453], [27824781, 27824930], [27825017, 27825108], [27827036, 27827222], [27831624, 27831849], [27832684, 27832831], [27833941, 27834065], [27835734, 27835838], [27839583, 27839709], [27855967, 27856013], [27856508, 27856657], [27867356, 27867439], [27868246, 27868483]] [[27809312, 27809453], [27824781, 27824930], [27825017, 27825108], [27827036, 27827222], [27831624, 27831849], [27832684, 27832831], [27833941, 27834065], [27835734, 27835838], [27839583, 27839709], [27855967, 27856013], [27856508, 27856657], [27867356, 27867439], [27868246, 27868448]]
ENST00000490455 [[27779787, 27779888], [27788136, 27788305], [27797649, 27797970]] None
ENST00000396319 [[27779807, 27779888], [27788136, 27788305], [27797649, 27797752], [27805452, 27805640], [27809294, 27809453], [27824781, 27824930], [27825017, 27825108], [27827036, 27827222], [27831624, 27831849], [27832684, 27832831], [27833941, 27834065], [27835734, 27835838], [27839583, 27839709], [27855967, 27856139], [27856508, 27856657], [27867356, 27867439], [27868246, 27868880]] [[27788143, 27788305], [27797649, 27797752], [27805452, 27805640], [27809294, 27809453], [27824781, 27824930], [27825017, 27825108], [27827036, 27827222], [27831624, 27831849], [27832684, 27832831], [27833941, 27834065], [27835734, 27835838], [27839583, 27839709], [27855967, 27856139], [27856508, 27856657], [27867356, 27867439], [27868246, 27868448]]
ENST00000494033 [[27809296, 27809453], [27811545, 27812158]] None
ENST00000457186 [[27832756, 27832831], [27833941, 27834065], [27835734, 27835838], [27839583, 27839709], [27842727, 27842799], [27855967, 27856013], [27856508, 27856657], [27867356, 27867439], [27868246, 27868641]] [[27832756, 27832831], [27833941, 27834065], [27835734, 27835838], [27839583, 27839709], [27842727, 27842799], [27855967, 27856013], [27856508, 27856657], [27867356, 27867439], [27868246, 27868448]]
ENST00000488564 [[27867419, 27867439], [27868246, 27868402], [27880339, 27884183]] [[27867419, 27867439], [27868246, 27868402], [27880339, 27880592]]
ENST00000460059 [[27868318, 27868402], [27872327, 27872770]] None
NM_001206901 [[27778991, 27779169], [27788136, 27788305], [27797649, 27797752], [27805452, 27805640], [27809294, 27809453], [27824781, 27824930], [27825017, 27825108], [27827036, 27827222], [27831624, 27831849], [27832684, 27832831], [27833941, 27834065], [27835734, 27835838], [27839583, 27839709], [27855967, 27856013], [27856508, 27856657], [27867356, 27867439], [27868246, 27869386]] [[27788143, 27788305], [27797649, 27797752], [27805452, 27805640], [27809294, 27809453], [27824781, 27824930], [27825017, 27825108], [27827036, 27827222], [27831624, 27831849], [27832684, 27832831], [27833941, 27834065], [27835734, 27835838], [27839583, 27839709], [27855967, 27856013], [27856508, 27856657], [27867356, 27867439], [27868246, 27868448]]
NM_001206902 [[27779713, 27779888], [27788136, 27788305], [27797649, 27797752], [27809294, 27809453], [27824781, 27824930], [27825017, 27825108], [27827036, 27827222], [27831624, 27831849], [27832684, 27832831], [27833941, 27834065], [27835734, 27835838], [27839583, 27839709], [27855967, 27856013], [27856508, 27856657], [27867356, 27867439], [27868246, 27869386]] [[27809312, 27809453], [27824781, 27824930], [27825017, 27825108], [27827036, 27827222], [27831624, 27831849], [27832684, 27832831], [27833941, 27834065], [27835734, 27835838], [27839583, 27839709], [27855967, 27856013], [27856508, 27856657], [27867356, 27867439], [27868246, 27868448]]
NM_001079864 [[27779713, 27779888], [27788136, 27788305], [27797649, 27797752], [27805452, 27805640], [27809294, 27809453], [27824781, 27824930], [27825017, 27825108], [27827036, 27827222], [27831624, 27831849], [27832684, 27832831], [27833941, 27834065], [27835734, 27835838], [27839583, 27839709], [27855967, 27856013], [27856508, 27856657], [27867356, 27867439], [27868246, 27869386]] [[27788143, 27788305], [27797649, 27797752], [27805452, 27805640], [27809294, 27809453], [27824781, 27824930], [27825017, 27825108], [27827036, 27827222], [27831624, 27831849], [27832684, 27832831], [27833941, 27834065], [27835734, 27835838], [27839583, 27839709], [27855967, 27856013], [27856508, 27856657], [27867356, 27867439], [27868246, 27868448]]
NM_006024 [[27779713, 27779888], [27788136, 27788305], [27797649, 27797752], [27805452, 27805640], [27809294, 27809453], [27824781, 27824930], [27825017, 27825108], [27827036, 27827222], [27831624, 27831849], [27832684, 27832831], [27833941, 27834065], [27835734, 27835838], [27839583, 27839709], [27855967, 27856139], [27856508, 27856657], [27867356, 27867439], [27868246, 27869386]] [[27788143, 27788305], [27797649, 27797752], [27805452, 27805640], [27809294, 27809453], [27824781, 27824930], [27825017, 27825108], [27827036, 27827222], [27831624, 27831849], [27832684, 27832831], [27833941, 27834065], [27835734, 27835838], [27839583, 27839709], [27855967, 27856139], [27856508, 27856657], [27867356, 27867439], [27868246, 27868448]]
Promoter
Chrom Start End Description
chr7 27779729 27779819 CAGE_peak_1_at_TAX1BP1_5end
chr7 27788205 27788255 CAGE_peak_2_at_TAX1BP1_5end
chr7 27835758 27835772 CAGE_peak_3_at_TAX1BP1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I027837 27837348 27837645 0.22 [{'connected_gene': 'CREB5', 'score': 1.4}, {'connected_gene': 'GC07M027840', 'score': 0.44}, {'connected_gene': 'GC07P027829', 'score': 0.44}, {'connected_gene': 'TAX1BP1', 'score': 0.15}, {'connected_gene': 'JAZF1', 'score': 0.05}]
chr7 GH07I027909 27909915 27911544 0.72 [{'connected_gene': 'TAX1BP1', 'score': 4.25}, {'connected_gene': 'PIR39851', 'score': 0.31}, {'connected_gene': 'PIR54187', 'score': 0.13}, {'connected_gene': 'JAZF1', 'score': 0.06}]
chr7 GH07I027900 27900476 27902743 1.15 [{'connected_gene': 'TAX1BP1', 'score': 4.68}, {'connected_gene': 'PIR39851', 'score': 0.37}, {'connected_gene': 'PIR54187', 'score': 0.13}, {'connected_gene': 'JAZF1', 'score': 0.06}]
chr7 GH07I027951 27951757 27953384 0.2 [{'connected_gene': 'TAX1BP1', 'score': 5.13}, {'connected_gene': 'PIR39851', 'score': 0.2}, {'connected_gene': 'PIR54187', 'score': 0.18}, {'connected_gene': 'JAZF1', 'score': 0.07}]
chr7 GH07I027872 27872005 27875689 0.69 [{'connected_gene': 'TAX1BP1', 'score': 10.03}, {'connected_gene': 'HIBADH', 'score': 5.15}, {'connected_gene': 'GC07P027880', 'score': 0.44}, {'connected_gene': 'GC07M027840', 'score': 0.31}, {'connected_gene': 'JAZF1', 'score': 0.06}]
chr7 GH07I027736 27736956 27741863 2.05 [{'connected_gene': 'TAX1BP1', 'score': 562.46}, {'connected_gene': 'LOC105375210', 'score': 550.77}, {'connected_gene': 'HIBADH', 'score': 18.92}, {'connected_gene': 'LOC442292', 'score': 4.27}]
chr7 GH07I027346 27346505 27348268 1.4 [{'connected_gene': 'TAX1BP1', 'score': 4.45}, {'connected_gene': 'LOC105375207', 'score': 0.39}, {'connected_gene': 'HNRNPA1P73', 'score': 0.37}]
chr7 GH07I027606 27605604 27608344 1.51 [{'connected_gene': 'HIBADH', 'score': 16.4}, {'connected_gene': 'TAX1BP1', 'score': 8.91}, {'connected_gene': 'TSL', 'score': 0.44}, {'connected_gene': 'PIR36003', 'score': 0.18}]
chr7 GH07I027693 27693601 27694189 1.08 [{'connected_gene': 'HIBADH', 'score': 11.44}, {'connected_gene': 'TAX1BP1', 'score': 0.25}, {'connected_gene': 'LOC105375211', 'score': 0.25}]
chr7 GH07I027709 27709192 27710232 0.74 [{'connected_gene': 'HIBADH', 'score': 9.04}, {'connected_gene': 'TAX1BP1', 'score': 0.31}, {'connected_gene': 'LOC105375211', 'score': 0.21}]
chr7 GH07I027714 27714341 27715782 0.6 [{'connected_gene': 'HIBADH', 'score': 19.66}, {'connected_gene': 'TAX1BP1', 'score': 18.46}, {'connected_gene': 'LOC105375210', 'score': 11.78}, {'connected_gene': 'LOC442292', 'score': 5.12}, {'connected_gene': 'LOC105375211', 'score': 0.2}]
chr7 GH07I027689 27689762 27689851 0.57 [{'connected_gene': 'HIBADH', 'score': 12.24}, {'connected_gene': 'TAX1BP1', 'score': 11.68}, {'connected_gene': 'LOC105375210', 'score': 11.67}, {'connected_gene': 'LOC105375211', 'score': 0.26}]
chr7 GH07I027515 27515657 27516734 0.38 [{'connected_gene': 'HIBADH', 'score': 16.61}, {'connected_gene': 'TAX1BP1', 'score': 8.67}, {'connected_gene': 'PIR36003', 'score': 0.39}, {'connected_gene': 'GC07P027503', 'score': 0.39}]
chr7 GH07I027712 27712143 27713387 0.62 [{'connected_gene': 'HIBADH', 'score': 11.82}, {'connected_gene': 'HOXA1', 'score': 4.36}, {'connected_gene': 'TAX1BP1', 'score': 0.31}, {'connected_gene': 'LOC105375211', 'score': 0.2}]
chr7 GH07I027784 27784400 27784800 0.96 [{'connected_gene': 'HIBADH', 'score': 11.07}, {'connected_gene': 'HOXA11-AS', 'score': 10.23}, {'connected_gene': 'HOXA10', 'score': 10.23}, {'connected_gene': 'HOXA9', 'score': 10.23}, {'connected_gene': 'HOXA11', 'score': 10.23}, {'connected_gene': 'HOTTIP', 'score': 10.2}, {'connected_gene': 'HOXA13', 'score': 10.2}, {'connected_gene': 'ENSG00000253508', 'score': 10.2}, {'connected_gene': 'GC07M027748', 'score': 0.29}, {'connected_gene': 'GC07P027829', 'score': 0.26}, {'connected_gene': 'TAX1BP1', 'score': 0.25}]
chr7 GH07I027676 27676604 27680022 1.33 [{'connected_gene': 'HIBADH', 'score': 13.55}, {'connected_gene': 'LOC105375210', 'score': 10.89}, {'connected_gene': 'TAX1BP1', 'score': 10.89}, {'connected_gene': 'LOC105375211', 'score': 0.29}]
chr7 GH07I027697 27697463 27699081 0.79 [{'connected_gene': 'HIBADH', 'score': 20.85}, {'connected_gene': 'LOC105375210', 'score': 11.66}, {'connected_gene': 'TAX1BP1', 'score': 11.66}, {'connected_gene': 'LOC105375211', 'score': 0.23}]
chr7 GH07I027744 27744568 27747146 1.12 [{'connected_gene': 'HIBADH', 'score': 7.82}, {'connected_gene': 'LOC105375210', 'score': 0.44}, {'connected_gene': 'TAX1BP1', 'score': 0.44}, {'connected_gene': 'GC07M027748', 'score': 0.44}]
chr7 GH07I027734 27734291 27736506 0.98 [{'connected_gene': 'HIBADH', 'score': 8.61}, {'connected_gene': 'LOC105375210', 'score': 0.77}, {'connected_gene': 'TAX1BP1', 'score': 0.77}]
chr7 GH07I027942 27942847 27945872 0.49 [{'connected_gene': 'HIBADH', 'score': 9.97}, {'connected_gene': 'ENSG00000253508', 'score': 9.65}, {'connected_gene': 'HOTTIP', 'score': 9.65}, {'connected_gene': 'HOXA13', 'score': 9.65}, {'connected_gene': 'TAX1BP1', 'score': 5.14}, {'connected_gene': 'PIR39851', 'score': 0.22}, {'connected_gene': 'PIR54187', 'score': 0.17}, {'connected_gene': 'JAZF1', 'score': 0.07}]
chr7 GH07I027349 27349618 27350391 0.57 [{'connected_gene': 'EVX1-AS', 'score': 10.52}, {'connected_gene': 'ENSG00000253308', 'score': 10.51}, {'connected_gene': 'EVX1', 'score': 10.51}, {'connected_gene': 'TAX1BP1', 'score': 4.64}, {'connected_gene': 'LOC105375207', 'score': 0.39}, {'connected_gene': 'HNRNPA1P73', 'score': 0.34}]
chr7 GH07I027835 27834066 27834709 0.31 [{'connected_gene': 'GC07P027829', 'score': 0.44}, {'connected_gene': 'GC07M027840', 'score': 0.39}, {'connected_gene': 'TAX1BP1', 'score': 0.15}, {'connected_gene': 'JAZF1', 'score': 0.05}]
chr7 GH07I027834 27834978 27836114 0.38 [{'connected_gene': 'GC07P027829', 'score': 0.44}, {'connected_gene': 'GC07M027840', 'score': 0.39}, {'connected_gene': 'TAX1BP1', 'score': 0.15}, {'connected_gene': 'JAZF1', 'score': 0.05}]
chr7 GH07I027814 27814182 27814331 0.2 [{'connected_gene': 'GC07P027829', 'score': 0.39}, {'connected_gene': 'GC07M027748', 'score': 0.21}, {'connected_gene': 'TAX1BP1', 'score': 0.19}]
chr7 GH07I027763 27763962 27764934 0.54 [{'connected_gene': 'GC07M027748', 'score': 0.39}, {'connected_gene': 'TAX1BP1', 'score': 0.31}, {'connected_gene': 'GC07P027829', 'score': 0.21}]