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
ENST00000576846 [[7529551, 7531114]] None
ENST00000269298 [[7529551, 7529932], [7530070, 7530111], [7530260, 7530362], [7530460, 7530544], [7530680, 7530732], [7530887, 7531173]] [[7529764, 7529932], [7530070, 7530111], [7530260, 7530362], [7530460, 7530544], [7530680, 7530732], [7530887, 7530953]]
ENST00000570914 [[7529554, 7529932], [7530070, 7530457]] None
ENST00000380466 [[7529554, 7529932], [7530070, 7530111], [7530260, 7530362], [7530460, 7530544], [7530680, 7530732], [7530870, 7531187]] None
ENST00000576579 [[7529555, 7529932], [7530070, 7530111], [7530680, 7530797]] None
ENST00000571074 [[7529654, 7529932], [7530070, 7530111], [7530260, 7530362], [7530460, 7530544], [7530680, 7530732], [7530874, 7531177]] [[7530685, 7530732], [7530874, 7530953]]
ENST00000575826 [[7529659, 7529932], [7530024, 7530111], [7530260, 7530362], [7530460, 7530544], [7530680, 7530732], [7530874, 7531114]] [[7530685, 7530732], [7530874, 7530953]]
ENST00000571195 [[7529683, 7529932], [7530070, 7530111], [7530460, 7530544], [7530680, 7531120]] None
ENST00000573566 [[7529705, 7529932], [7530070, 7530111], [7530460, 7530544], [7530680, 7530732], [7530887, 7531123]] [[7529764, 7529932], [7530070, 7530111], [7530460, 7530544], [7530680, 7530732], [7530887, 7530953]]
ENST00000570850 [[7529720, 7529932], [7530024, 7530111], [7530460, 7530544], [7530680, 7530732], [7530870, 7531120]] None
ENST00000576686 [[7529851, 7529932], [7530070, 7530111], [7530460, 7530544], [7530680, 7530732], [7530870, 7531194]] None
ENST00000572224 [[7530099, 7530111], [7530260, 7530362], [7530460, 7530732], [7530870, 7531153]] None
ENST00000575114 [[7530263, 7530362], [7530460, 7531164]] None
ENST00000573930 [[7530276, 7530544], [7530680, 7531123]] None
NM_001320845 [[7529551, 7529932], [7530070, 7530111], [7530260, 7530362], [7530460, 7530544], [7530680, 7530732], [7530870, 7531194]] [[7529764, 7529932], [7530070, 7530111], [7530260, 7530362], [7530460, 7530544], [7530680, 7530732], [7530870, 7531173]]
NM_001320846 [[7529551, 7529932], [7530070, 7530111], [7530460, 7530544], [7530680, 7530732], [7530870, 7531194]] [[7529764, 7529932], [7530070, 7530111], [7530460, 7530544], [7530680, 7530732], [7530870, 7531173]]
NM_133491 [[7529551, 7529932], [7530070, 7530111], [7530260, 7530362], [7530460, 7530544], [7530680, 7530732], [7530887, 7531194]] [[7529764, 7529932], [7530070, 7530111], [7530260, 7530362], [7530460, 7530544], [7530680, 7530732], [7530887, 7530953]]
NM_001320847 [[7529551, 7529932], [7530070, 7530111], [7530460, 7530544], [7530680, 7530732], [7530887, 7531194]] [[7529764, 7529932], [7530070, 7530111], [7530460, 7530544], [7530680, 7530732], [7530887, 7530953]]
Promoter
Chrom Start End Description
chr17 7531121 7531198 CAGE_peak_1_at_SAT2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I007548 7548228 7554199 2.4 [{'connected_gene': 'TNFSF12', 'score': 572.74}, {'connected_gene': 'TNFSF12-TNFSF13', 'score': 550.77}, {'connected_gene': 'GC17M007548', 'score': 550.77}, {'connected_gene': 'SAT2', 'score': 22.45}, {'connected_gene': 'CHRNB1', 'score': 18.67}, {'connected_gene': 'ATP1B2', 'score': 7.35}, {'connected_gene': 'TMEM102', 'score': 4.64}, {'connected_gene': 'CD68', 'score': 1.93}, {'connected_gene': 'ACAP1', 'score': 1.52}, {'connected_gene': 'WRAP53', 'score': 1.33}]
chr17 GH17I007556 7556244 7563337 2.24 [{'connected_gene': 'TNFSF13', 'score': 555.97}, {'connected_gene': 'GC17P007747', 'score': 550.77}, {'connected_gene': 'SENP3', 'score': 550.77}, {'connected_gene': 'ENSG00000276384', 'score': 550.77}, {'connected_gene': 'SAT2', 'score': 23.08}, {'connected_gene': 'CHRNB1', 'score': 20.68}, {'connected_gene': 'TNFSF12', 'score': 11.66}, {'connected_gene': 'SNORA48', 'score': 5.15}, {'connected_gene': 'SENP3-EIF4A1', 'score': 0.77}, {'connected_gene': 'TNFSF12-TNFSF13', 'score': 0.39}]
chr17 GH17I007571 7571056 7585261 2.56 [{'connected_gene': 'SNORD10', 'score': 599.71}, {'connected_gene': 'EIF4A1', 'score': 584.56}, {'connected_gene': 'SNORA67', 'score': 550.77}, {'connected_gene': 'PIR46508', 'score': 550.77}, {'connected_gene': 'CD68', 'score': 550.77}, {'connected_gene': 'GC17P007742', 'score': 550.77}, {'connected_gene': 'GC17P007737', 'score': 550.77}, {'connected_gene': 'GC17P007739', 'score': 550.77}, {'connected_gene': 'GC17P007735', 'score': 550.77}, {'connected_gene': 'MPDU1', 'score': 550.44}, {'connected_gene': 'DVL2', 'score': 90.08}, {'connected_gene': 'PFAS', 'score': 62.14}, {'connected_gene': 'CTC1', 'score': 55.51}, {'connected_gene': 'SNORA48', 'score': 45.17}, {'connected_gene': 'CNTROB', 'score': 41.8}, {'connected_gene': 'POLR2A', 'score': 40.65}, {'connected_gene': 'ENSG00000262089', 'score': 34.89}, {'connected_gene': 'PLSCR3', 'score': 32.41}, {'connected_gene': 'PER1', 'score': 31.89}, {'connected_gene': 'ENSG00000265749', 'score': 30.9}, {'connected_gene': 'KDM6B', 'score': 26.87}, {'connected_gene': 'SAT2', 'score': 25.39}, {'connected_gene': 'GPS2', 'score': 24.16}, {'connected_gene': 'WRAP53', 'score': 24.12}, {'connected_gene': 'KCTD11', 'score': 21.1}, {'connected_gene': 'TP53', 'score': 20.21}, {'connected_gene': 'SENP3', 'score': 19.8}, {'connected_gene': 'MIR324', 'score': 19.24}, {'connected_gene': 'LOC100996842', 'score': 18.62}, {'connected_gene': 'RPL26', 'score': 13.87}, {'connected_gene': 'SHBG', 'score': 10.33}, {'connected_gene': 'CHD3', 'score': 9.91}, {'connected_gene': 'ALOX12-AS1', 'score': 9.8}, {'connected_gene': 'NEURL4', 'score': 9.7}, {'connected_gene': 'CHRNB1', 'score': 9.4}, {'connected_gene': 'TNFSF12', 'score': 9.29}, {'connected_gene': 'ATP1B2', 'score': 7.18}, {'connected_gene': 'TMEM102', 'score': 6.07}, {'connected_gene': 'TNFSF13', 'score': 5.72}, {'connected_gene': 'TMEM107', 'score': 4.84}, {'connected_gene': 'PIR59849', 'score': 0.77}, {'connected_gene': 'GC17P007729', 'score': 0.77}, {'connected_gene': 'PIR46619', 'score': 0.44}, {'connected_gene': 'GC17P007743', 'score': 0.44}, {'connected_gene': 'ENSG00000264772', 'score': 0.44}, {'connected_gene': 'SENP3-EIF4A1', 'score': 0.37}]
chr17 GH17I007474 7474332 7486846 2.66 [{'connected_gene': 'POLR2A', 'score': 630.98}, {'connected_gene': 'ZBTB4', 'score': 565.68}, {'connected_gene': 'SLC35G6', 'score': 553.06}, {'connected_gene': 'DVL2', 'score': 125.64}, {'connected_gene': 'PFAS', 'score': 84.1}, {'connected_gene': 'SNORD10', 'score': 80.83}, {'connected_gene': 'CTC1', 'score': 69.62}, {'connected_gene': 'WRAP53', 'score': 65.83}, {'connected_gene': 'SNORA48', 'score': 65.0}, {'connected_gene': 'CNTROB', 'score': 55.88}, {'connected_gene': 'PLSCR3', 'score': 50.14}, {'connected_gene': 'KCTD11', 'score': 49.66}, {'connected_gene': 'NEURL4', 'score': 49.09}, {'connected_gene': 'CHRNB1', 'score': 47.98}, {'connected_gene': 'ENSG00000262089', 'score': 43.42}, {'connected_gene': 'ENSG00000265749', 'score': 42.99}, {'connected_gene': 'EIF4A1', 'score': 42.36}, {'connected_gene': 'KDM6B', 'score': 37.52}, {'connected_gene': 'RPL26', 'score': 33.14}, {'connected_gene': 'NLGN2', 'score': 32.71}, {'connected_gene': 'MIR324', 'score': 31.14}, {'connected_gene': 'PER1', 'score': 29.03}, {'connected_gene': 'CD68', 'score': 26.74}, {'connected_gene': 'FGF11', 'score': 25.73}, {'connected_gene': 'SENP3', 'score': 21.76}, {'connected_gene': 'TP53', 'score': 20.26}, {'connected_gene': 'ACAP1', 'score': 14.21}, {'connected_gene': 'EIF5A', 'score': 12.8}, {'connected_gene': 'TNFSF12', 'score': 12.69}, {'connected_gene': 'TMEM102', 'score': 11.75}, {'connected_gene': 'SPEM2', 'score': 11.55}, {'connected_gene': 'SPEM1', 'score': 11.54}, {'connected_gene': 'MPDU1', 'score': 10.98}, {'connected_gene': 'TMEM256', 'score': 10.98}, {'connected_gene': 'TMEM95', 'score': 10.94}, {'connected_gene': 'TNFSF12-TNFSF13', 'score': 10.74}, {'connected_gene': 'ENSG00000224647', 'score': 10.64}, {'connected_gene': 'MIR497HG', 'score': 10.56}, {'connected_gene': 'SLC25A35', 'score': 10.45}, {'connected_gene': 'HES7', 'score': 10.18}, {'connected_gene': 'SCARNA21', 'score': 10.11}, {'connected_gene': 'LOC100996842', 'score': 10.02}, {'connected_gene': 'GPS2', 'score': 10.01}, {'connected_gene': 'ALOX12-AS1', 'score': 9.81}, {'connected_gene': 'CHD3', 'score': 9.59}, {'connected_gene': 'TNK1', 'score': 6.83}, {'connected_gene': 'GABARAP', 'score': 5.15}, {'connected_gene': 'RNASEK', 'score': 4.12}, {'connected_gene': 'SAT2', 'score': 4.0}, {'connected_gene': 'SOX15', 'score': 1.65}, {'connected_gene': 'C17orf49', 'score': 1.61}, {'connected_gene': 'CLEC10A', 'score': 1.25}, {'connected_gene': 'PIR47282', 'score': 0.77}]
chr17 GH17I007644 7644860 7645036 0.44 [{'connected_gene': 'ATP1B2', 'score': 558.32}, {'connected_gene': 'WRAP53', 'score': 25.04}, {'connected_gene': 'SAT2', 'score': 3.62}, {'connected_gene': 'CD68', 'score': 3.23}, {'connected_gene': 'GABARAP', 'score': 1.91}, {'connected_gene': 'POLR2A', 'score': 1.54}, {'connected_gene': 'GC17P007715', 'score': 0.39}]
chr17 GH17I007833 7833490 7845968 2.75 [{'connected_gene': 'KDM6B', 'score': 607.82}, {'connected_gene': 'DVL2', 'score': 134.07}, {'connected_gene': 'PFAS', 'score': 118.39}, {'connected_gene': 'CTC1', 'score': 98.91}, {'connected_gene': 'WRAP53', 'score': 84.56}, {'connected_gene': 'CNTROB', 'score': 79.82}, {'connected_gene': 'POLR2A', 'score': 71.55}, {'connected_gene': 'SNORD10', 'score': 67.27}, {'connected_gene': 'SNORA48', 'score': 56.96}, {'connected_gene': 'PER1', 'score': 54.84}, {'connected_gene': 'ENSG00000262089', 'score': 51.89}, {'connected_gene': 'ENSG00000265749', 'score': 48.67}, {'connected_gene': 'NLGN2', 'score': 48.64}, {'connected_gene': 'PLSCR3', 'score': 48.19}, {'connected_gene': 'RPL26', 'score': 31.22}, {'connected_gene': 'MIR324', 'score': 30.44}, {'connected_gene': 'EIF4A1', 'score': 29.27}, {'connected_gene': 'KCTD11', 'score': 29.11}, {'connected_gene': 'SLC25A35', 'score': 27.33}, {'connected_gene': 'CYB5D1', 'score': 20.91}, {'connected_gene': 'ZBTB4', 'score': 20.37}, {'connected_gene': 'MIR497HG', 'score': 20.32}, {'connected_gene': 'SENP3', 'score': 19.49}, {'connected_gene': 'NEURL4', 'score': 19.19}, {'connected_gene': 'LOC100996842', 'score': 18.24}, {'connected_gene': 'GPS2', 'score': 15.79}, {'connected_gene': 'ATP1B2', 'score': 14.31}, {'connected_gene': 'CD68', 'score': 14.09}, {'connected_gene': 'DLG4', 'score': 13.31}, {'connected_gene': 'VAMP2', 'score': 13.2}, {'connected_gene': 'TP53', 'score': 11.01}, {'connected_gene': 'SCARNA21', 'score': 10.27}, {'connected_gene': 'HES7', 'score': 10.21}, {'connected_gene': 'CHD3', 'score': 10.09}, {'connected_gene': 'ALOX12-AS1', 'score': 9.8}, {'connected_gene': 'NAA38', 'score': 8.35}, {'connected_gene': 'BORCS6', 'score': 5.96}, {'connected_gene': 'ACAP1', 'score': 5.09}, {'connected_gene': 'SAT2', 'score': 2.64}, {'connected_gene': 'TNFSF12', 'score': 2.48}, {'connected_gene': 'GC17P007843', 'score': 0.77}, {'connected_gene': 'LOC105371516', 'score': 0.44}, {'connected_gene': 'DNAH2', 'score': 0.13}]
chr17 GH17I007625 7625302 7631144 2.01 [{'connected_gene': 'SAT2', 'score': 576.35}, {'connected_gene': 'GC17P007740', 'score': 550.77}, {'connected_gene': 'GC17P007715', 'score': 550.77}, {'connected_gene': 'GC17P007716', 'score': 550.77}, {'connected_gene': 'SHBG', 'score': 550.39}, {'connected_gene': 'CHRNB1', 'score': 14.78}, {'connected_gene': 'DVL2', 'score': 12.53}, {'connected_gene': 'WRAP53', 'score': 11.68}, {'connected_gene': 'TP53', 'score': 11.68}, {'connected_gene': 'EFNB3', 'score': 11.0}, {'connected_gene': 'SENP3', 'score': 10.79}, {'connected_gene': 'DNAH2', 'score': 10.59}, {'connected_gene': 'CNTROB', 'score': 10.31}, {'connected_gene': 'TRAPPC1', 'score': 10.31}, {'connected_gene': 'KCNAB3', 'score': 10.31}, {'connected_gene': 'TNFSF12', 'score': 9.24}, {'connected_gene': 'FGF11', 'score': 5.93}, {'connected_gene': 'TMEM107', 'score': 4.9}]
chr17 GH17I007130 7130223 7134200 1.63 [{'connected_gene': 'LOC105371512', 'score': 550.77}, {'connected_gene': 'CLEC10A', 'score': 15.47}, {'connected_gene': 'SLC16A11', 'score': 12.71}, {'connected_gene': 'ASGR1', 'score': 11.18}, {'connected_gene': 'BCL6B', 'score': 10.91}, {'connected_gene': 'EIF5A', 'score': 9.21}, {'connected_gene': 'RPL7AP64', 'score': 8.8}, {'connected_gene': 'TRAPPC1', 'score': 4.56}, {'connected_gene': 'CD68', 'score': 4.49}, {'connected_gene': 'GABARAP', 'score': 3.39}, {'connected_gene': 'SAT2', 'score': 2.95}, {'connected_gene': 'TNFSF12', 'score': 2.28}, {'connected_gene': 'XAF1', 'score': 1.96}, {'connected_gene': 'POLR2A', 'score': 1.87}, {'connected_gene': 'RNASEK', 'score': 1.72}, {'connected_gene': 'ACAP1', 'score': 1.35}]
chr17 GH17I007586 7586460 7592159 1.72 [{'connected_gene': 'GC17M007593', 'score': 550.77}, {'connected_gene': 'SOX15', 'score': 550.77}, {'connected_gene': 'SAT2', 'score': 25.47}, {'connected_gene': 'TNFSF12', 'score': 10.04}, {'connected_gene': 'CHRNB1', 'score': 6.05}, {'connected_gene': 'ATP1B2', 'score': 5.26}, {'connected_gene': 'LOC100996842', 'score': 0.77}, {'connected_gene': 'MPDU1', 'score': 0.44}, {'connected_gene': 'FXR2', 'score': 0.31}]
chr17 GH17I007656 7656272 7658175 0.57 [{'connected_gene': 'GC17P007727', 'score': 550.77}, {'connected_gene': 'DVL2', 'score': 16.46}, {'connected_gene': 'PFAS', 'score': 16.39}, {'connected_gene': 'CYB5D1', 'score': 13.12}, {'connected_gene': 'CNTROB', 'score': 12.65}, {'connected_gene': 'SAT2', 'score': 11.69}, {'connected_gene': 'WRAP53', 'score': 10.37}, {'connected_gene': 'CTC1', 'score': 10.2}, {'connected_gene': 'CD68', 'score': 6.93}, {'connected_gene': 'ATP1B2', 'score': 6.28}, {'connected_gene': 'TNFSF12', 'score': 5.89}, {'connected_gene': 'CHRNB1', 'score': 5.86}]

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