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
ENST00000575235 [[7341591, 7341849], [7344789, 7344900], [7345094, 7345198], [7345912, 7346111], [7346394, 7346650]] [[7345162, 7345198], [7345912, 7346111], [7346394, 7346465]]
ENST00000293829 [[7342345, 7343132], [7344789, 7344900], [7345094, 7345198], [7345912, 7346111], [7346394, 7348256]] [[7342939, 7343132], [7344789, 7344900], [7345094, 7345198], [7345912, 7346111], [7346394, 7346465]]
ENST00000572907 [[7343198, 7344900], [7345094, 7345198], [7345912, 7346111], [7346394, 7346747]] [[7345162, 7345198], [7345912, 7346111], [7346394, 7346465]]
ENST00000575398 [[7344060, 7344135], [7344769, 7344900], [7345094, 7345198], [7345912, 7346111], [7346394, 7346875]] [[7345162, 7345198], [7345912, 7346111], [7346394, 7346465]]
ENST00000575082 [[7344061, 7344135], [7344789, 7344900], [7345094, 7345198], [7345912, 7346111], [7346394, 7348221]] [[7345162, 7345198], [7345912, 7346111], [7346394, 7346465]]
ENST00000576328 [[7344091, 7344135], [7344789, 7344900], [7345094, 7345851]] None
NR_130156 [[7341591, 7341849], [7344789, 7344900], [7345094, 7345198], [7345912, 7346111], [7346394, 7348251]] None
NM_004112 [[7342345, 7343132], [7344789, 7344900], [7345094, 7345198], [7345912, 7346111], [7346394, 7348251]] [[7342939, 7343132], [7344789, 7344900], [7345094, 7345198], [7345912, 7346111], [7346394, 7346465]]
NM_001303460 [[7344060, 7344135], [7344769, 7344900], [7345094, 7345198], [7345912, 7346111], [7346394, 7348251]] [[7344773, 7344900], [7345094, 7345198], [7345912, 7346111], [7346394, 7346465]]
Promoter
Chrom Start End Description
chr17 7341586 7341635 CAGE_peak_1_at_FGF11_5end
chr17 7342824 7342848 CAGE_peak_3_at_FGF11_5end
chr17 7344057 7344073 CAGE_peak_5_at_FGF11_5end
chr17 7344081 7344105 CAGE_peak_2_at_FGF11_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I007401 7401720 7406531 2.02 [{'connected_gene': 'NLGN2', 'score': 559.2}, {'connected_gene': 'TMEM256', 'score': 557.42}, {'connected_gene': 'TMEM256-PLSCR3', 'score': 550.77}, {'connected_gene': 'ENSG00000262089', 'score': 14.38}, {'connected_gene': 'EIF4A1', 'score': 13.15}, {'connected_gene': 'SNORD10', 'score': 12.5}, {'connected_gene': 'SPEM2', 'score': 11.8}, {'connected_gene': 'CNTROB', 'score': 11.35}, {'connected_gene': 'POLR2A', 'score': 11.22}, {'connected_gene': 'CHRNB1', 'score': 11.18}, {'connected_gene': 'TP53', 'score': 11.06}, {'connected_gene': 'DVL2', 'score': 10.99}, {'connected_gene': 'ACAP1', 'score': 10.77}, {'connected_gene': 'ENSG00000224647', 'score': 10.76}, {'connected_gene': 'NEURL4', 'score': 10.76}, {'connected_gene': 'TMEM102', 'score': 10.75}, {'connected_gene': 'FGF11', 'score': 10.71}, {'connected_gene': 'TNFSF12-TNFSF13', 'score': 10.45}, {'connected_gene': 'TNFSF12', 'score': 10.45}, {'connected_gene': 'SNORA48', 'score': 10.27}, {'connected_gene': 'CTC1', 'score': 10.18}, {'connected_gene': 'PLSCR3', 'score': 0.44}]
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 GH17I007312 7312545 7316544 2.25 [{'connected_gene': 'GPS2', 'score': 555.36}, {'connected_gene': 'GC17M007314', 'score': 550.77}, {'connected_gene': 'EIF5A', 'score': 21.22}, {'connected_gene': 'ACAP1', 'score': 17.2}, {'connected_gene': 'SLC2A4', 'score': 13.0}, {'connected_gene': 'ENSG00000202251', 'score': 11.39}, {'connected_gene': 'CLDN7', 'score': 11.37}, {'connected_gene': 'ELP5', 'score': 11.05}, {'connected_gene': 'CTDNEP1', 'score': 11.05}, {'connected_gene': 'GABARAP', 'score': 10.4}, {'connected_gene': 'PHF23', 'score': 10.4}, {'connected_gene': 'DVL2', 'score': 10.39}, {'connected_gene': 'CHRNB1', 'score': 9.86}, {'connected_gene': 'TMEM102', 'score': 9.76}, {'connected_gene': 'FGF11', 'score': 9.75}, {'connected_gene': 'ENSG00000261915', 'score': 0.77}, {'connected_gene': 'NEURL4', 'score': 0.39}]
chr17 GH17I007434 7434722 7438747 2.04 [{'connected_gene': 'TMEM102', 'score': 558.31}, {'connected_gene': 'ENSG00000262624', 'score': 550.77}, {'connected_gene': 'FGF11', 'score': 550.77}, {'connected_gene': 'PFAS', 'score': 9.98}, {'connected_gene': 'SPEM3', 'score': 0.44}, {'connected_gene': 'ENSG00000262880', 'score': 0.37}]
chr17 GH17I007439 7439463 7441627 1.98 [{'connected_gene': 'FGF11', 'score': 568.68}, {'connected_gene': 'ENSG00000272884', 'score': 550.77}, {'connected_gene': 'DVL2', 'score': 52.22}, {'connected_gene': 'CTC1', 'score': 37.35}, {'connected_gene': 'PFAS', 'score': 36.6}, {'connected_gene': 'CHRNB1', 'score': 32.53}, {'connected_gene': 'SNORD10', 'score': 28.17}, {'connected_gene': 'CNTROB', 'score': 24.19}, {'connected_gene': 'SNORA48', 'score': 23.05}, {'connected_gene': 'ENSG00000262089', 'score': 22.12}, {'connected_gene': 'CYB5D1', 'score': 21.92}, {'connected_gene': 'WRAP53', 'score': 21.08}, {'connected_gene': 'KCTD11', 'score': 20.25}, {'connected_gene': 'PER1', 'score': 19.67}, {'connected_gene': 'PLSCR3', 'score': 19.43}, {'connected_gene': 'ENSG00000265749', 'score': 18.59}, {'connected_gene': 'NLGN2', 'score': 14.02}, {'connected_gene': 'KDM6B', 'score': 13.8}, {'connected_gene': 'SENP3', 'score': 12.9}, {'connected_gene': 'POLR2A', 'score': 11.72}, {'connected_gene': 'RPL26', 'score': 11.7}, {'connected_gene': 'MIR497HG', 'score': 11.53}, {'connected_gene': 'NEURL4', 'score': 11.48}, {'connected_gene': 'KIAA0753', 'score': 11.4}, {'connected_gene': 'MIR324', 'score': 11.08}, {'connected_gene': 'EIF4A1', 'score': 11.07}, {'connected_gene': 'LOC100996842', 'score': 9.98}, {'connected_gene': 'ENSG00000263301', 'score': 0.77}, {'connected_gene': 'ENSG00000262880', 'score': 0.34}]
chr17 GH17I007514 7514392 7516706 0.87 [{'connected_gene': 'FGF11', 'score': 11.02}, {'connected_gene': 'CHRNB1', 'score': 10.99}, {'connected_gene': 'SNORA48', 'score': 4.83}, {'connected_gene': 'GC17M007507', 'score': 0.44}, {'connected_gene': 'GC17M007538', 'score': 0.34}, {'connected_gene': 'ENSG00000201489', 'score': 0.34}, {'connected_gene': 'POLR2A', 'score': 0.29}]
chr17 GH17I007412 7412963 7414053 0.49 [{'connected_gene': 'FGF11', 'score': 12.21}, {'connected_gene': 'CHRNB1', 'score': 12.16}, {'connected_gene': 'TMEM95', 'score': 11.34}, {'connected_gene': 'ACAP1', 'score': 10.75}, {'connected_gene': 'ENSG00000202251', 'score': 10.49}, {'connected_gene': 'CLDN7', 'score': 10.49}, {'connected_gene': 'TNFSF12-TNFSF13', 'score': 10.31}, {'connected_gene': 'TNFSF12', 'score': 10.31}, {'connected_gene': 'ENSG00000224647', 'score': 9.94}, {'connected_gene': 'NEURL4', 'score': 9.94}, {'connected_gene': 'DNAH2', 'score': 9.3}, {'connected_gene': 'GC17M007407', 'score': 0.77}, {'connected_gene': 'NLGN2', 'score': 0.44}, {'connected_gene': 'ENSG00000262880', 'score': 0.44}]
chr17 GH17I007470 7470649 7471317 0.43 [{'connected_gene': 'FGF11', 'score': 26.07}, {'connected_gene': 'CHRNB1', 'score': 12.12}, {'connected_gene': 'TMEM102', 'score': 11.78}, {'connected_gene': 'SPEM2', 'score': 11.57}, {'connected_gene': 'SPEM1', 'score': 11.56}, {'connected_gene': 'TNFSF12-TNFSF13', 'score': 11.2}, {'connected_gene': 'TNFSF12', 'score': 11.2}, {'connected_gene': 'TMEM256', 'score': 11.08}, {'connected_gene': 'NLGN2', 'score': 11.08}, {'connected_gene': 'PLSCR3', 'score': 11.06}, {'connected_gene': 'ACAP1', 'score': 10.76}, {'connected_gene': 'EIF5A', 'score': 10.38}, {'connected_gene': 'PIR45545', 'score': 0.44}, {'connected_gene': 'PIR47282', 'score': 0.44}, {'connected_gene': 'GC17M007464', 'score': 0.44}, {'connected_gene': 'ZBTB4', 'score': 0.39}]
chr17 GH17I007400 7400822 7400931 0.2 [{'connected_gene': 'SPEM2', 'score': 11.8}, {'connected_gene': 'CHRNB1', 'score': 11.18}, {'connected_gene': 'ACAP1', 'score': 10.77}, {'connected_gene': 'ENSG00000224647', 'score': 10.76}, {'connected_gene': 'NEURL4', 'score': 10.76}, {'connected_gene': 'TMEM102', 'score': 10.72}, {'connected_gene': 'FGF11', 'score': 10.69}, {'connected_gene': 'TNFSF12-TNFSF13', 'score': 10.46}, {'connected_gene': 'TNFSF12', 'score': 10.46}, {'connected_gene': 'TMEM256-PLSCR3', 'score': 0.77}, {'connected_gene': 'PLSCR3', 'score': 0.44}]
chr17 GH17I007465 7465945 7468109 1.14 [{'connected_gene': 'CHRNB1', 'score': 25.17}, {'connected_gene': 'FGF11', 'score': 24.07}, {'connected_gene': 'TMEM102', 'score': 11.89}, {'connected_gene': 'SPEM2', 'score': 11.38}, {'connected_gene': 'SPEM1', 'score': 11.37}, {'connected_gene': 'TNFSF12-TNFSF13', 'score': 11.19}, {'connected_gene': 'TNFSF12', 'score': 11.19}, {'connected_gene': 'TMEM256', 'score': 11.09}, {'connected_gene': 'NLGN2', 'score': 11.09}, {'connected_gene': 'PLSCR3', 'score': 11.07}, {'connected_gene': 'PIR45545', 'score': 0.77}, {'connected_gene': 'GC17M007464', 'score': 0.77}, {'connected_gene': 'PIR47282', 'score': 0.44}, {'connected_gene': 'ZBTB4', 'score': 0.37}]
chr17 GH17I007472 7472001 7472200 0.4 [{'connected_gene': 'CHRNB1', 'score': 12.12}, {'connected_gene': 'FGF11', 'score': 11.81}, {'connected_gene': 'TMEM102', 'score': 11.78}, {'connected_gene': 'SPEM2', 'score': 11.57}, {'connected_gene': 'SPEM1', 'score': 11.56}, {'connected_gene': 'TMEM256', 'score': 11.0}, {'connected_gene': 'NLGN2', 'score': 11.0}, {'connected_gene': 'PLSCR3', 'score': 10.98}, {'connected_gene': 'TNFSF12-TNFSF13', 'score': 10.72}, {'connected_gene': 'TNFSF12', 'score': 10.72}, {'connected_gene': 'ACAP1', 'score': 10.66}, {'connected_gene': 'EIF5A', 'score': 10.07}, {'connected_gene': 'PIR47282', 'score': 0.77}, {'connected_gene': 'PIR45545', 'score': 0.44}, {'connected_gene': 'GC17M007464', 'score': 0.44}, {'connected_gene': 'ZBTB4', 'score': 0.39}]
chr17 GH17I007454 7454962 7456999 1.63 [{'connected_gene': 'CHRNB1', 'score': 39.91}, {'connected_gene': 'FGF11', 'score': 16.3}, {'connected_gene': 'SPEM2', 'score': 11.4}, {'connected_gene': 'SPEM1', 'score': 11.38}, {'connected_gene': 'TNFSF12-TNFSF13', 'score': 10.81}, {'connected_gene': 'TNFSF12', 'score': 10.81}, {'connected_gene': 'TMEM256', 'score': 10.79}, {'connected_gene': 'NLGN2', 'score': 10.79}, {'connected_gene': 'PLSCR3', 'score': 10.77}, {'connected_gene': 'ACAP1', 'score': 10.41}, {'connected_gene': 'PIR46408', 'score': 0.44}]
chr17 GH17I007442 7442992 7446371 1.92 [{'connected_gene': 'CHRNB1', 'score': 588.9}, {'connected_gene': 'ENSG00000263301', 'score': 550.77}, {'connected_gene': 'FGF11', 'score': 0.44}, {'connected_gene': 'ENSG00000272884', 'score': 0.44}, {'connected_gene': 'ENSG00000262880', 'score': 0.34}]
chr17 GH17I007399 7399762 7400603 0.38 [{'connected_gene': 'CHRNB1', 'score': 16.21}, {'connected_gene': 'SPEM2', 'score': 11.8}, {'connected_gene': 'SPEM1', 'score': 11.8}, {'connected_gene': 'ACAP1', 'score': 10.77}, {'connected_gene': 'ENSG00000224647', 'score': 10.77}, {'connected_gene': 'NEURL4', 'score': 10.76}, {'connected_gene': 'TMEM102', 'score': 10.72}, {'connected_gene': 'FGF11', 'score': 10.69}, {'connected_gene': 'TNFSF12-TNFSF13', 'score': 10.46}, {'connected_gene': 'TNFSF12', 'score': 10.46}, {'connected_gene': 'NLGN2', 'score': 8.73}, {'connected_gene': 'TMEM256-PLSCR3', 'score': 0.77}, {'connected_gene': 'PLSCR3', 'score': 0.44}]
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 GH17I007461 7461362 7461531 0.43 [{'connected_gene': 'PIR46408', 'score': 550.77}, {'connected_gene': 'ZBTB4', 'score': 13.16}, {'connected_gene': 'POLR2A', 'score': 13.16}, {'connected_gene': 'FGF11', 'score': 11.94}, {'connected_gene': 'TMEM102', 'score': 11.9}, {'connected_gene': 'SPEM2', 'score': 11.38}, {'connected_gene': 'SPEM1', 'score': 11.37}, {'connected_gene': 'TNFSF12-TNFSF13', 'score': 10.82}, {'connected_gene': 'TNFSF12', 'score': 10.82}, {'connected_gene': 'TMEM256', 'score': 10.78}, {'connected_gene': 'NLGN2', 'score': 10.78}, {'connected_gene': 'PLSCR3', 'score': 10.76}, {'connected_gene': 'ACAP1', 'score': 10.65}, {'connected_gene': 'CHRNB1', 'score': 0.37}]
chr17 GH17I007438 7438935 7438994 0.61 [{'connected_gene': 'ENSG00000262624', 'score': 550.77}, {'connected_gene': 'FGF11', 'score': 550.77}, {'connected_gene': 'ENSG00000272884', 'score': 550.77}, {'connected_gene': 'CHRNB1', 'score': 32.87}, {'connected_gene': 'ENSG00000262880', 'score': 0.37}]

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