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
ENST00000336034 [[42702749, 42703981], [42713851, 42713992], [42719299, 42719404], [42720831, 42721197], [42721783, 42721821]] [[42703589, 42703981], [42713851, 42713992], [42719299, 42719404], [42720831, 42721159]]
ENST00000595337 [[42702764, 42703981], [42713851, 42713992], [42719284, 42719404], [42720831, 42721197], [42724225, 42724275]] [[42703589, 42703981], [42713851, 42713992], [42719284, 42719404], [42720831, 42721159]]
ENST00000593804 [[42702767, 42703981], [42713851, 42713992], [42719284, 42719404], [42721783, 42721894]] None
ENST00000596251 [[42703510, 42703981], [42713851, 42713992], [42719284, 42719404], [42720831, 42721197], [42721783, 42721868]] [[42703589, 42703981], [42713851, 42713992], [42719284, 42719404], [42720831, 42721159]]
ENST00000601135 [[42703616, 42703981], [42706202, 42706224], [42713851, 42713992], [42719284, 42719404], [42721783, 42721858]] None
ENST00000598415 [[42703718, 42703981], [42708613, 42708711], [42713851, 42713992], [42719284, 42719404], [42721783, 42721876]] None
ENST00000602075 [[42703745, 42703981], [42708613, 42708711], [42713851, 42713992], [42716063, 42716161], [42719284, 42719404], [42721783, 42721853]] None
ENST00000600559 [[42703754, 42703981], [42713851, 42713992], [42719299, 42719404], [42721783, 42721860]] None
ENST00000598090 [[42703944, 42703981], [42706140, 42706224], [42713851, 42713992], [42719284, 42719404], [42721783, 42721864]] None
ENST00000598727 [[42705865, 42706224], [42713851, 42713992], [42719284, 42719404], [42720831, 42721197], [42721783, 42721834]] [[42706198, 42706224], [42713851, 42713992], [42719284, 42719404], [42720831, 42721159]]
ENST00000593561 [[42706006, 42706224], [42713851, 42713992], [42719284, 42719404], [42724225, 42724292]] None
ENST00000602201 [[42706055, 42706224], [42713851, 42713992], [42719284, 42719404], [42721783, 42721909]] None
ENST00000598200 [[42719379, 42719404], [42720831, 42721197], [42721759, 42721833]] [[42719379, 42719404], [42720831, 42721159]]
NM_133328 [[42702744, 42703981], [42713851, 42713992], [42719284, 42719404], [42720831, 42721197], [42721783, 42721944]] [[42703589, 42703981], [42713851, 42713992], [42719284, 42719404], [42720831, 42721159]]
NM_001270615 [[42702744, 42703981], [42713851, 42713992], [42719299, 42719404], [42720831, 42721197], [42721783, 42721944]] [[42703589, 42703981], [42713851, 42713992], [42719299, 42719404], [42720831, 42721159]]
NR_073046 [[42702744, 42703981], [42708613, 42708711], [42713851, 42713992], [42719284, 42719404], [42721783, 42721944]] None
NR_073051 [[42702744, 42703981], [42706140, 42706224], [42713851, 42713992], [42719284, 42719404], [42721783, 42721944]] None
NR_073049 [[42702744, 42703981], [42706202, 42706224], [42713851, 42713992], [42719284, 42719404], [42721783, 42721944]] None
NR_073048 [[42702744, 42703981], [42713851, 42713992], [42719284, 42719404], [42721783, 42721944]] None
NR_073052 [[42702744, 42703981], [42719284, 42719404], [42721783, 42721944]] None
NR_073050 [[42702744, 42703981], [42713851, 42713992], [42719299, 42719404], [42721783, 42721944]] None
NM_001270614 [[42702744, 42703981], [42713851, 42713992], [42719284, 42719404], [42720831, 42721197], [42724225, 42724304]] [[42703589, 42703981], [42713851, 42713992], [42719284, 42719404], [42720831, 42721159]]
NR_073047 [[42702744, 42703981], [42713851, 42713992], [42719284, 42719404], [42724225, 42724304]] None
Promoter
Chrom Start End Description
chr19 42721785 42721796 CAGE_peak_5_at_DEDD2_5end
chr19 42721819 42721883 CAGE_peak_1_at_DEDD2_5end
chr19 42721911 42721923 CAGE_peak_3_at_DEDD2_5end
chr19 42724261 42724297 CAGE_peak_2_at_DEDD2_5end
chr19 42724302 42724313 CAGE_peak_4_at_DEDD2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I041867 41867766 41880062 2.18 [{'connected_gene': 'CD79A', 'score': 567.72}, {'connected_gene': 'ARHGEF1', 'score': 24.51}, {'connected_gene': 'ZNF526', 'score': 22.27}, {'connected_gene': 'HNRNPUL1', 'score': 18.27}, {'connected_gene': 'CCDC97', 'score': 14.25}, {'connected_gene': 'RABAC1', 'score': 13.3}, {'connected_gene': 'ZNF574', 'score': 10.73}, {'connected_gene': 'POU2F2', 'score': 5.49}, {'connected_gene': 'DEDD2', 'score': 3.47}, {'connected_gene': 'CEACAM4', 'score': 2.44}, {'connected_gene': 'CEACAM21', 'score': 1.72}, {'connected_gene': 'CEACAM3', 'score': 1.54}, {'connected_gene': 'MIR6797', 'score': 0.77}, {'connected_gene': 'RPS19', 'score': 0.39}]
chr19 GH19I041943 41943854 41947358 1.15 [{'connected_gene': 'ARHGEF1', 'score': 18.58}, {'connected_gene': 'CIC', 'score': 11.14}, {'connected_gene': 'RABAC1', 'score': 9.05}, {'connected_gene': 'DEDD2', 'score': 1.94}, {'connected_gene': 'ZNF574', 'score': 1.87}, {'connected_gene': 'LOC100505585', 'score': 0.37}]
chr19 GH19I041915 41915764 41916164 0.66 [{'connected_gene': 'ARHGEF1', 'score': 7.71}, {'connected_gene': 'CEACAMP3', 'score': 4.57}, {'connected_gene': 'DEDD2', 'score': 1.53}, {'connected_gene': 'GRIK5', 'score': 1.39}, {'connected_gene': 'ZNF574', 'score': 1.21}, {'connected_gene': 'LOC390937', 'score': 0.39}]
chr19 GH19I042196 42196389 42205218 1.37 [{'connected_gene': 'ZNF574', 'score': 27.58}, {'connected_gene': 'CCDC97', 'score': 26.25}, {'connected_gene': 'ZNF526', 'score': 19.58}, {'connected_gene': 'MEGF8', 'score': 15.52}, {'connected_gene': 'HNRNPUL1', 'score': 15.29}, {'connected_gene': 'GRIK5', 'score': 12.91}, {'connected_gene': 'GSK3A', 'score': 11.5}, {'connected_gene': 'LOC100505622', 'score': 11.29}, {'connected_gene': 'CIC', 'score': 11.28}, {'connected_gene': 'PAFAH1B3', 'score': 11.22}, {'connected_gene': 'PRR19', 'score': 11.22}, {'connected_gene': 'CNFN', 'score': 9.81}, {'connected_gene': 'POU2F2', 'score': 0.77}, {'connected_gene': 'DEDD2', 'score': 0.37}]
chr19 GH19I042120 42120313 42124348 1.19 [{'connected_gene': 'POU2F2', 'score': 11.41}, {'connected_gene': 'GSK3A', 'score': 11.22}, {'connected_gene': 'ZNF526', 'score': 11.02}, {'connected_gene': 'DEDD2', 'score': 11.02}, {'connected_gene': 'MEGF8', 'score': 10.93}, {'connected_gene': 'LOC100505622', 'score': 0.39}, {'connected_gene': 'PIR55136', 'score': 0.26}]
chr19 GH19I042118 42118049 42119445 0.2 [{'connected_gene': 'POU2F2', 'score': 11.4}, {'connected_gene': 'GSK3A', 'score': 11.22}, {'connected_gene': 'ZNF526', 'score': 11.02}, {'connected_gene': 'DEDD2', 'score': 11.02}, {'connected_gene': 'MEGF8', 'score': 10.92}, {'connected_gene': 'LOC100505622', 'score': 0.39}, {'connected_gene': 'PIR55136', 'score': 0.28}]
chr19 GH19I042110 42110307 42117436 1.31 [{'connected_gene': 'POU2F2', 'score': 11.51}, {'connected_gene': 'CIC', 'score': 11.24}, {'connected_gene': 'GSK3A', 'score': 11.22}, {'connected_gene': 'PAFAH1B3', 'score': 11.22}, {'connected_gene': 'PRR19', 'score': 11.22}, {'connected_gene': 'MEGF8', 'score': 11.02}, {'connected_gene': 'ZNF526', 'score': 11.01}, {'connected_gene': 'DEDD2', 'score': 11.01}, {'connected_gene': 'ATP1A3', 'score': 10.4}, {'connected_gene': 'CNFN', 'score': 9.9}, {'connected_gene': 'LOC100505622', 'score': 0.37}, {'connected_gene': 'PIR55136', 'score': 0.29}]
chr19 GH19I042140 42140229 42140378 0.8 [{'connected_gene': 'POU2F2', 'score': 11.16}, {'connected_gene': 'ZNF526', 'score': 10.88}, {'connected_gene': 'DEDD2', 'score': 10.88}, {'connected_gene': 'MIR4323', 'score': 0.44}, {'connected_gene': 'ENSG00000259436', 'score': 0.39}]
chr19 GH19I042127 42127899 42133923 2.63 [{'connected_gene': 'POU2F2', 'score': 555.92}, {'connected_gene': 'LOC100505622', 'score': 550.77}, {'connected_gene': 'GRIK5', 'score': 15.47}, {'connected_gene': 'MEGF8', 'score': 10.97}, {'connected_gene': 'DEDD2', 'score': 3.48}, {'connected_gene': 'ARHGEF1', 'score': 2.02}, {'connected_gene': 'MIR4323', 'score': 0.77}, {'connected_gene': 'PIR55136', 'score': 0.23}]
chr19 GH19I042176 42176001 42176200 0.54 [{'connected_gene': 'POU2F2', 'score': 12.27}, {'connected_gene': 'LOC100505622', 'score': 12.19}, {'connected_gene': 'ZNF526', 'score': 11.66}, {'connected_gene': 'DEDD2', 'score': 11.66}, {'connected_gene': 'GRIK5', 'score': 11.31}, {'connected_gene': 'ENSG00000259436', 'score': 0.34}]
chr19 GH19I042212 42212451 42214406 0.31 [{'connected_gene': 'GRIK5', 'score': 9.61}, {'connected_gene': 'DEDD2', 'score': 0.44}, {'connected_gene': 'POU2F2', 'score': 0.37}]
chr19 GH19I042205 42205945 42208888 1.56 [{'connected_gene': 'GRIK5', 'score': 12.9}, {'connected_gene': 'LOC100505622', 'score': 10.91}, {'connected_gene': 'GSK3A', 'score': 10.88}, {'connected_gene': 'DEDD2', 'score': 7.84}, {'connected_gene': 'ARHGEF1', 'score': 3.84}, {'connected_gene': 'CEACAM8', 'score': 2.07}, {'connected_gene': 'POU2F2', 'score': 2.03}, {'connected_gene': 'CEACAM3', 'score': 1.63}]
chr19 GH19I042276 42276359 42287467 2.66 [{'connected_gene': 'CIC', 'score': 551.48}, {'connected_gene': 'ZNF526', 'score': 80.03}, {'connected_gene': 'ZNF574', 'score': 64.49}, {'connected_gene': 'CCDC97', 'score': 38.66}, {'connected_gene': 'MEGF8', 'score': 24.43}, {'connected_gene': 'GRIK5', 'score': 11.55}, {'connected_gene': 'DEDD2', 'score': 9.34}, {'connected_gene': 'CEACAM8', 'score': 5.59}, {'connected_gene': 'PAFAH1B3', 'score': 5.07}, {'connected_gene': 'TMEM145', 'score': 4.31}, {'connected_gene': 'CEACAM3', 'score': 2.88}, {'connected_gene': 'PRR19', 'score': 2.58}, {'connected_gene': 'GSK3A', 'score': 2.44}, {'connected_gene': 'ARHGEF1', 'score': 1.72}, {'connected_gene': 'ATP1A3', 'score': 1.14}, {'connected_gene': 'PIR39982', 'score': 0.77}, {'connected_gene': 'GC19P042280', 'score': 0.77}, {'connected_gene': 'PIR40414', 'score': 0.77}, {'connected_gene': 'PIR46989', 'score': 0.44}]
chr19 GH19I042267 42267435 42274340 2.68 [{'connected_gene': 'CIC', 'score': 553.37}, {'connected_gene': 'PIR59110', 'score': 550.77}, {'connected_gene': 'ZNF526', 'score': 79.36}, {'connected_gene': 'ZNF574', 'score': 64.73}, {'connected_gene': 'CCDC97', 'score': 44.16}, {'connected_gene': 'DEDD2', 'score': 19.36}, {'connected_gene': 'MEGF8', 'score': 18.02}, {'connected_gene': 'CEACAM3', 'score': 15.92}, {'connected_gene': 'PRR19', 'score': 13.07}, {'connected_gene': 'PAFAH1B3', 'score': 13.07}, {'connected_gene': 'GSK3A', 'score': 12.84}, {'connected_gene': 'TMEM145', 'score': 10.12}, {'connected_gene': 'DMRTC2', 'score': 9.9}, {'connected_gene': 'LOC732229', 'score': 9.72}, {'connected_gene': 'LYPD4', 'score': 8.77}, {'connected_gene': 'LIPE', 'score': 6.93}, {'connected_gene': 'ARHGEF1', 'score': 5.82}, {'connected_gene': 'CEACAM8', 'score': 3.92}, {'connected_gene': 'ERF', 'score': 3.75}, {'connected_gene': 'POU2F2', 'score': 1.91}]
chr19 GH19I041924 41924953 41925672 0.6 [{'connected_gene': 'MEGF8', 'score': 10.31}, {'connected_gene': 'ARHGEF1', 'score': 8.13}, {'connected_gene': 'DEDD2', 'score': 1.85}, {'connected_gene': 'LOC390937', 'score': 0.77}]
chr19 GH19I041934 41934332 41936975 1.41 [{'connected_gene': 'MEGF8', 'score': 20.81}, {'connected_gene': 'ZNF526', 'score': 17.35}, {'connected_gene': 'GRIK5', 'score': 11.89}, {'connected_gene': 'HNRNPUL1', 'score': 11.42}, {'connected_gene': 'CCDC97', 'score': 10.52}, {'connected_gene': 'ZNF574', 'score': 10.05}, {'connected_gene': 'RABAC1', 'score': 9.24}, {'connected_gene': 'ARHGEF1', 'score': 6.3}, {'connected_gene': 'DEDD2', 'score': 1.62}, {'connected_gene': 'LOC100505585', 'score': 0.44}]
chr19 GH19I042215 42215791 42221439 2.31 [{'connected_gene': 'ZNF526', 'score': 561.57}, {'connected_gene': 'DEDD2', 'score': 550.77}, {'connected_gene': 'ZNF574', 'score': 33.84}, {'connected_gene': 'GSK3A', 'score': 12.68}, {'connected_gene': 'POU2F2', 'score': 12.08}, {'connected_gene': 'CIC', 'score': 10.82}]
chr19 GH19I042177 42176429 42176578 0.81 [{'connected_gene': 'ZNF526', 'score': 35.21}, {'connected_gene': 'HNRNPUL1', 'score': 17.55}, {'connected_gene': 'CCDC97', 'score': 15.08}, {'connected_gene': 'POU2F2', 'score': 12.27}, {'connected_gene': 'LOC100505622', 'score': 12.19}, {'connected_gene': 'DEDD2', 'score': 11.66}, {'connected_gene': 'ERF', 'score': 10.46}, {'connected_gene': 'ZNF574', 'score': 9.96}, {'connected_gene': 'RPS19', 'score': 9.73}, {'connected_gene': 'ENSG00000259436', 'score': 0.34}]
chr19 GH19I042178 42176589 42177526 1.4 [{'connected_gene': 'ZNF526', 'score': 57.9}, {'connected_gene': 'HNRNPUL1', 'score': 40.23}, {'connected_gene': 'CCDC97', 'score': 15.08}, {'connected_gene': 'LOC100505622', 'score': 12.19}, {'connected_gene': 'DEDD2', 'score': 11.66}, {'connected_gene': 'MEGF8', 'score': 11.09}, {'connected_gene': 'ERF', 'score': 10.46}, {'connected_gene': 'ZNF574', 'score': 9.96}, {'connected_gene': 'RPS19', 'score': 9.73}, {'connected_gene': 'POU2F2', 'score': 0.37}, {'connected_gene': 'ENSG00000259436', 'score': 0.34}]
chr19 GH19I042183 42183949 42185836 1.17 [{'connected_gene': 'LOC100505622', 'score': 11.87}, {'connected_gene': 'ZNF526', 'score': 11.45}, {'connected_gene': 'DEDD2', 'score': 11.45}, {'connected_gene': 'LIPE-AS1', 'score': 10.03}, {'connected_gene': 'LIPE', 'score': 10.02}, {'connected_gene': 'GRIK5', 'score': 9.11}, {'connected_gene': 'POU2F2', 'score': 0.39}, {'connected_gene': 'ENSG00000259436', 'score': 0.29}]
chr19 GH19I041800 41800801 41803124 1.31 [{'connected_gene': 'LOC100422623', 'score': 550.77}, {'connected_gene': 'GC19M041795', 'score': 550.77}, {'connected_gene': 'CEACAM3', 'score': 28.0}, {'connected_gene': 'CEACAM4', 'score': 27.06}, {'connected_gene': 'DMRTC2', 'score': 25.09}, {'connected_gene': 'DEDD2', 'score': 17.06}, {'connected_gene': 'LYPD4', 'score': 11.72}, {'connected_gene': 'CEACAM6', 'score': 11.55}, {'connected_gene': 'CEACAM21', 'score': 5.86}, {'connected_gene': 'TMEM91', 'score': 5.71}, {'connected_gene': 'B9D2', 'score': 3.27}, {'connected_gene': 'TGFB1', 'score': 2.79}, {'connected_gene': 'ARHGEF1', 'score': 2.05}, {'connected_gene': 'ERF', 'score': 1.83}]
chr19 GH19I041804 41804308 41804674 0.48 [{'connected_gene': 'LOC100422623', 'score': 550.77}, {'connected_gene': 'GC19P041806', 'score': 550.77}, {'connected_gene': 'DMRTC2', 'score': 25.78}, {'connected_gene': 'CEACAM3', 'score': 25.31}, {'connected_gene': 'CEACAM4', 'score': 22.54}, {'connected_gene': 'DEDD2', 'score': 15.55}, {'connected_gene': 'LYPD4', 'score': 11.66}, {'connected_gene': 'TMEM91', 'score': 5.55}, {'connected_gene': 'CEACAM21', 'score': 4.85}, {'connected_gene': 'B9D2', 'score': 3.54}, {'connected_gene': 'TGFB1', 'score': 3.43}, {'connected_gene': 'ARHGEF1', 'score': 2.29}, {'connected_gene': 'ERF', 'score': 1.71}, {'connected_gene': 'CCDC97', 'score': 1.14}]
chr19 GH19I042150 42150505 42150772 0.54 [{'connected_gene': 'ENSG00000259436', 'score': 550.77}, {'connected_gene': 'POU2F2', 'score': 12.14}, {'connected_gene': 'GRIK5', 'score': 12.1}, {'connected_gene': 'ZNF526', 'score': 11.1}, {'connected_gene': 'DEDD2', 'score': 11.1}, {'connected_gene': 'ATP1A3', 'score': 10.35}, {'connected_gene': 'MEGF8', 'score': 10.16}, {'connected_gene': 'TMEM145', 'score': 1.74}, {'connected_gene': 'MIR4323', 'score': 0.37}]
chr19 GH19I042151 42151052 42151554 0.31 [{'connected_gene': 'ENSG00000259436', 'score': 550.77}, {'connected_gene': 'GRIK5', 'score': 15.46}, {'connected_gene': 'POU2F2', 'score': 12.14}, {'connected_gene': 'ZNF526', 'score': 11.1}, {'connected_gene': 'DEDD2', 'score': 11.1}, {'connected_gene': 'ATP1A3', 'score': 10.35}, {'connected_gene': 'MEGF8', 'score': 10.16}, {'connected_gene': 'MIR4323', 'score': 0.37}]
chr19 GH19I042460 42460462 42460848 0.22 [{'connected_gene': 'PIR51613', 'score': 550.77}, {'connected_gene': 'CXCL17', 'score': 8.89}, {'connected_gene': 'CEACAM8', 'score': 3.23}, {'connected_gene': 'DEDD2', 'score': 3.03}, {'connected_gene': 'LIPE-AS1', 'score': 0.21}]
chr19 GH19I041798 41797201 41799741 0.99 [{'connected_gene': 'GC19M041795', 'score': 550.77}, {'connected_gene': 'CEACAM4', 'score': 26.95}, {'connected_gene': 'CEACAM3', 'score': 24.73}, {'connected_gene': 'DEDD2', 'score': 17.13}, {'connected_gene': 'DMRTC2', 'score': 11.7}, {'connected_gene': 'LYPD4', 'score': 11.7}, {'connected_gene': 'CEACAM6', 'score': 11.57}, {'connected_gene': 'TMEM91', 'score': 5.76}, {'connected_gene': 'CEACAM21', 'score': 5.52}, {'connected_gene': 'PCAT19', 'score': 4.67}, {'connected_gene': 'B9D2', 'score': 3.35}, {'connected_gene': 'TGFB1', 'score': 2.87}, {'connected_gene': 'ARHGEF1', 'score': 2.28}, {'connected_gene': 'ERF', 'score': 1.75}]

© 2018 bmi.sjtu.edu.cn. All rights reserved.
浙ICP备18030141号.