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
ENST00000226091 [[7608519, 7609038], [7611275, 7611568], [7611752, 7611845], [7611952, 7612057], [7612484, 7614696]] [[7608916, 7609038], [7611275, 7611568], [7611752, 7611845], [7611952, 7612057], [7612484, 7612894]]
NM_001406 [[7608519, 7609038], [7611275, 7611568], [7611752, 7611845], [7611952, 7612057], [7612484, 7614693]] [[7608916, 7609038], [7611275, 7611568], [7611752, 7611845], [7611952, 7612057], [7612484, 7612894]]
Promoter
Chrom Start End Description
chr17 7608489 7608500 CAGE_peak_3_at_EFNB3_5end
chr17 7608511 7608538 CAGE_peak_1_at_EFNB3_5end
chr17 7608540 7608553 CAGE_peak_2_at_EFNB3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I007380 7380462 7381880 1.73 [{'connected_gene': 'TNK1', 'score': 556.9}, {'connected_gene': 'CHRNB1', 'score': 15.3}, {'connected_gene': 'TMEM95', 'score': 12.3}, {'connected_gene': 'KCTD11', 'score': 12.3}, {'connected_gene': 'TMEM256', 'score': 11.7}, {'connected_gene': 'NLGN2', 'score': 11.7}, {'connected_gene': 'SPEM1', 'score': 11.69}, {'connected_gene': 'SPEM2', 'score': 11.68}, {'connected_gene': 'ACAP1', 'score': 11.41}, {'connected_gene': 'ENSG00000224647', 'score': 11.02}, {'connected_gene': 'NEURL4', 'score': 11.02}, {'connected_gene': 'EIF5A', 'score': 10.95}, {'connected_gene': 'CLDN7', 'score': 10.82}, {'connected_gene': 'ENSG00000202251', 'score': 10.82}, {'connected_gene': 'YBX2', 'score': 10.78}, {'connected_gene': 'SLC2A4', 'score': 10.77}, {'connected_gene': 'TNFSF12-TNFSF13', 'score': 10.57}, {'connected_gene': 'TNFSF12', 'score': 10.57}, {'connected_gene': 'WRAP53', 'score': 10.19}, {'connected_gene': 'EFNB3', 'score': 9.46}, {'connected_gene': 'SLC16A11', 'score': 9.3}, {'connected_gene': 'PLSCR3', 'score': 0.39}]
chr17 GH17I007871 7871801 7872000 0.2 [{'connected_gene': 'SCARNA21', 'score': 11.75}, {'connected_gene': 'KDM6B', 'score': 11.34}, {'connected_gene': 'GUCY2D', 'score': 11.19}, {'connected_gene': 'ALOX15B', 'score': 10.8}, {'connected_gene': 'EFNB3', 'score': 9.92}, {'connected_gene': 'WRAP53', 'score': 9.9}, {'connected_gene': 'ENSG00000280046', 'score': 0.39}, {'connected_gene': 'GC17P007887', 'score': 0.39}, {'connected_gene': 'NAA38', 'score': 0.39}]
chr17 GH17I007613 7613113 7616010 1.99 [{'connected_gene': 'SHBG', 'score': 550.77}, {'connected_gene': 'FXR2', 'score': 550.77}, {'connected_gene': 'TNFSF12', 'score': 18.76}, {'connected_gene': 'SNORD10', 'score': 14.27}, {'connected_gene': 'SOX15', 'score': 12.97}, {'connected_gene': 'LOC100996842', 'score': 12.95}, {'connected_gene': 'MPDU1', 'score': 12.93}, {'connected_gene': 'DVL2', 'score': 12.79}, {'connected_gene': 'ATP1B2', 'score': 12.01}, {'connected_gene': 'SNORA48', 'score': 11.94}, {'connected_gene': 'PFAS', 'score': 11.88}, {'connected_gene': 'WRAP53', 'score': 11.65}, {'connected_gene': 'TP53', 'score': 11.65}, {'connected_gene': 'CTC1', 'score': 11.27}, {'connected_gene': 'EFNB3', 'score': 10.98}, {'connected_gene': 'TNFSF12-TNFSF13', 'score': 10.83}, {'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': 'PER1', 'score': 10.19}, {'connected_gene': 'ENSG00000265749', 'score': 10.0}, {'connected_gene': 'ENSG00000262089', 'score': 9.9}, {'connected_gene': 'PLSCR3', 'score': 9.87}]
chr17 GH17I007684 7684012 7689558 2.32 [{'connected_gene': 'WRAP53', 'score': 593.19}, {'connected_gene': 'GC17P007745', 'score': 550.77}, {'connected_gene': 'GC17P007741', 'score': 550.77}, {'connected_gene': 'TP53', 'score': 550.77}, {'connected_gene': 'ENSG00000262251', 'score': 550.77}, {'connected_gene': 'CTC1', 'score': 68.14}, {'connected_gene': 'DVL2', 'score': 66.61}, {'connected_gene': 'PFAS', 'score': 58.62}, {'connected_gene': 'SNORD10', 'score': 51.43}, {'connected_gene': 'SNORA48', 'score': 43.71}, {'connected_gene': 'MIR324', 'score': 41.98}, {'connected_gene': 'CNTROB', 'score': 41.18}, {'connected_gene': 'KDM6B', 'score': 35.18}, {'connected_gene': 'POLR2A', 'score': 32.44}, {'connected_gene': 'EIF4A1', 'score': 30.18}, {'connected_gene': 'PLSCR3', 'score': 29.12}, {'connected_gene': 'PER1', 'score': 27.85}, {'connected_gene': 'ENSG00000262089', 'score': 22.45}, {'connected_gene': 'CYB5D1', 'score': 13.13}, {'connected_gene': 'DNAH2', 'score': 12.37}, {'connected_gene': 'ATP1B2', 'score': 11.68}, {'connected_gene': 'KCTD11', 'score': 10.28}, {'connected_gene': 'GPS2', 'score': 10.16}, {'connected_gene': 'EFNB3', 'score': 10.12}, {'connected_gene': 'ENSG00000265749', 'score': 9.99}, {'connected_gene': 'ALOX15B', 'score': 9.26}]
chr17 GH17I007213 7213402 7223977 2.53 [{'connected_gene': 'DLG4', 'score': 558.48}, {'connected_gene': 'GC17P007220', 'score': 550.77}, {'connected_gene': 'ACADVL', 'score': 550.77}, {'connected_gene': 'GC17M007214', 'score': 550.77}, {'connected_gene': 'ELP5', 'score': 29.18}, {'connected_gene': 'CLDN7', 'score': 17.78}, {'connected_gene': 'LOC100996842', 'score': 9.92}, {'connected_gene': 'SLC35G6', 'score': 5.25}, {'connected_gene': 'EIF5A', 'score': 4.77}, {'connected_gene': 'WRAP53', 'score': 4.01}, {'connected_gene': 'EFNB3', 'score': 1.99}, {'connected_gene': 'NLGN2', 'score': 1.96}, {'connected_gene': 'NEURL4', 'score': 1.3}, {'connected_gene': 'MIR324', 'score': 0.77}, {'connected_gene': 'GC17M007224', 'score': 0.77}]
chr17 GH17I007383 7383642 7385013 0.96 [{'connected_gene': 'TMEM95', 'score': 12.3}, {'connected_gene': 'KCTD11', 'score': 12.29}, {'connected_gene': 'NLGN2', 'score': 11.7}, {'connected_gene': 'SPEM1', 'score': 11.69}, {'connected_gene': 'SPEM2', 'score': 11.68}, {'connected_gene': 'ACAP1', 'score': 11.4}, {'connected_gene': 'ENSG00000224647', 'score': 11.02}, {'connected_gene': 'NEURL4', 'score': 11.02}, {'connected_gene': 'EIF5A', 'score': 10.94}, {'connected_gene': 'CHRNB1', 'score': 10.91}, {'connected_gene': 'ENSG00000202251', 'score': 10.82}, {'connected_gene': 'CLDN7', 'score': 10.82}, {'connected_gene': 'YBX2', 'score': 10.78}, {'connected_gene': 'SLC2A4', 'score': 10.76}, {'connected_gene': 'TNFSF12-TNFSF13', 'score': 10.57}, {'connected_gene': 'TNFSF12', 'score': 10.57}, {'connected_gene': 'WRAP53', 'score': 10.19}, {'connected_gene': 'EFNB3', 'score': 9.46}, {'connected_gene': 'SLC16A11', 'score': 9.3}, {'connected_gene': 'TNK1', 'score': 6.15}, {'connected_gene': 'PLSCR3', 'score': 0.39}]
chr17 GH17I007867 7867579 7868787 0.4 [{'connected_gene': 'KDM6B', 'score': 15.94}, {'connected_gene': 'SCARNA21', 'score': 11.74}, {'connected_gene': 'GUCY2D', 'score': 11.19}, {'connected_gene': 'ALOX15B', 'score': 10.79}, {'connected_gene': 'EFNB3', 'score': 9.91}, {'connected_gene': 'WRAP53', 'score': 9.9}, {'connected_gene': 'NAA38', 'score': 7.61}, {'connected_gene': 'ENSG00000280046', 'score': 0.44}, {'connected_gene': 'GC17P007887', 'score': 0.37}]
chr17 GH17I007808 7808861 7810395 0.76 [{'connected_gene': 'EFNB3', 'score': 11.2}, {'connected_gene': 'WRAP53', 'score': 11.18}, {'connected_gene': 'GC17M007788', 'score': 0.34}, {'connected_gene': 'LOC105371516', 'score': 0.34}, {'connected_gene': 'DNAH2', 'score': 0.16}]
chr17 GH17I007703 7703244 7704274 0.73 [{'connected_gene': 'EFNB3', 'score': 560.97}, {'connected_gene': 'GC17P007745', 'score': 0.37}, {'connected_gene': 'WRAP53', 'score': 0.37}, {'connected_gene': 'GC17P007741', 'score': 0.37}]
chr17 GH17I007676 7676489 7678200 0.49 [{'connected_gene': 'EFNB3', 'score': 21.21}, {'connected_gene': 'ATP1B2', 'score': 12.06}, {'connected_gene': 'DNAH2', 'score': 11.34}, {'connected_gene': 'FXR2', 'score': 11.34}, {'connected_gene': 'WRAP53', 'score': 0.44}, {'connected_gene': 'TP53', 'score': 0.39}, {'connected_gene': 'GC17P007727', 'score': 0.34}]
chr17 GH17I007679 7679428 7680251 0.2 [{'connected_gene': 'EFNB3', 'score': 20.31}, {'connected_gene': 'ATP1B2', 'score': 11.72}, {'connected_gene': 'DNAH2', 'score': 11.12}, {'connected_gene': 'WRAP53', 'score': 0.44}, {'connected_gene': 'TP53', 'score': 0.44}, {'connected_gene': 'GC17P007727', 'score': 0.34}]
chr17 GH17I007743 7743663 7743832 0.77 [{'connected_gene': 'EFNB3', 'score': 4.86}, {'connected_gene': 'RPL29P2', 'score': 0.39}, {'connected_gene': 'DNAH2', 'score': 0.31}]
chr17 GH17I007704 7704688 7705611 1.88 [{'connected_gene': 'EFNB3', 'score': 562.32}, {'connected_gene': 'GC17P007745', 'score': 0.37}, {'connected_gene': 'GC17P007741', 'score': 0.37}]
chr17 GH17I007706 7704303 7704452 0.52 [{'connected_gene': 'EFNB3', 'score': 550.77}, {'connected_gene': 'GC17P007745', 'score': 0.37}, {'connected_gene': 'GC17P007741', 'score': 0.37}]
chr17 GH17I007705 7705703 7705706 0.6 [{'connected_gene': 'EFNB3', 'score': 550.77}, {'connected_gene': 'GC17M007714', 'score': 0.44}]
chr17 GH17I007747 7747139 7748903 0.6 [{'connected_gene': 'DNAH2', 'score': 11.44}, {'connected_gene': 'EFNB3', 'score': 11.18}, {'connected_gene': 'WRAP53', 'score': 11.12}, {'connected_gene': 'ALOX15B', 'score': 10.52}, {'connected_gene': 'TMEM88', 'score': 10.21}, {'connected_gene': 'CYB5D1', 'score': 10.21}, {'connected_gene': 'NAA38', 'score': 10.19}, {'connected_gene': 'RPL29P2', 'score': 0.44}]
chr17 GH17I007749 7749621 7751441 0.6 [{'connected_gene': 'DNAH2', 'score': 11.44}, {'connected_gene': 'EFNB3', 'score': 11.16}, {'connected_gene': 'WRAP53', 'score': 11.12}, {'connected_gene': 'ALOX15B', 'score': 10.52}, {'connected_gene': 'TMEM88', 'score': 10.22}, {'connected_gene': 'CYB5D1', 'score': 10.21}, {'connected_gene': 'NAA38', 'score': 10.19}, {'connected_gene': 'LOC100996842', 'score': 9.97}, {'connected_gene': 'RPL29P2', 'score': 0.77}]
chr17 GH17I007716 7716157 7718252 2.04 [{'connected_gene': 'DNAH2', 'score': 550.77}, {'connected_gene': 'DVL2', 'score': 70.93}, {'connected_gene': 'SNORD10', 'score': 60.78}, {'connected_gene': 'CTC1', 'score': 59.94}, {'connected_gene': 'CNTROB', 'score': 57.01}, {'connected_gene': 'SNORA48', 'score': 52.38}, {'connected_gene': 'WRAP53', 'score': 50.5}, {'connected_gene': 'PFAS', 'score': 48.46}, {'connected_gene': 'POLR2A', 'score': 39.47}, {'connected_gene': 'ENSG00000265749', 'score': 38.68}, {'connected_gene': 'ENSG00000262089', 'score': 32.12}, {'connected_gene': 'PLSCR3', 'score': 30.75}, {'connected_gene': 'KCTD11', 'score': 29.12}, {'connected_gene': 'KDM6B', 'score': 23.05}, {'connected_gene': 'EIF4A1', 'score': 21.3}, {'connected_gene': 'PER1', 'score': 20.97}, {'connected_gene': 'MIR324', 'score': 19.85}, {'connected_gene': 'NEURL4', 'score': 19.49}, {'connected_gene': 'EFNB3', 'score': 18.96}, {'connected_gene': 'SLC25A35', 'score': 18.74}, {'connected_gene': 'RPL26', 'score': 13.87}, {'connected_gene': 'TP53', 'score': 11.21}, {'connected_gene': 'SENP3', 'score': 10.65}, {'connected_gene': 'NLGN2', 'score': 10.25}, {'connected_gene': 'SCARNA21', 'score': 10.15}, {'connected_gene': 'LOC100996842', 'score': 9.99}, {'connected_gene': 'CHD3', 'score': 9.95}, {'connected_gene': 'ALOX12-AS1', 'score': 9.8}, {'connected_gene': 'TNFSF12', 'score': 4.79}, {'connected_gene': 'GC17M007714', 'score': 0.44}]
chr17 GH17I007754 7754139 7754347 0.24 [{'connected_gene': 'RPL29P2', 'score': 550.77}, {'connected_gene': 'WRAP53', 'score': 15.47}, {'connected_gene': 'SLC35G6', 'score': 12.16}, {'connected_gene': 'DNAH2', 'score': 11.42}, {'connected_gene': 'EFNB3', 'score': 11.16}, {'connected_gene': 'ALOX15B', 'score': 10.52}, {'connected_gene': 'TMEM88', 'score': 10.22}, {'connected_gene': 'CYB5D1', 'score': 10.22}, {'connected_gene': 'NAA38', 'score': 10.19}, {'connected_gene': 'NLGN2', 'score': 2.69}, {'connected_gene': 'GC17M007753', 'score': 0.77}]
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 GH17I007773 7773910 7775126 0.87 [{'connected_gene': 'GC17M007773', 'score': 550.77}, {'connected_gene': 'NEURL4', 'score': 19.21}, {'connected_gene': 'DNAH2', 'score': 11.35}, {'connected_gene': 'SENP3', 'score': 11.29}, {'connected_gene': 'EFNB3', 'score': 11.12}, {'connected_gene': 'WRAP53', 'score': 11.08}, {'connected_gene': 'ATP1B2', 'score': 10.59}, {'connected_gene': 'ALOX15B', 'score': 10.45}, {'connected_gene': 'GC17M007753', 'score': 0.37}]
chr17 GH17I007755 7754854 7755807 0.46 [{'connected_gene': 'GC17M007753', 'score': 550.77}, {'connected_gene': 'RPL29P2', 'score': 550.77}, {'connected_gene': 'DNAH2', 'score': 11.8}, {'connected_gene': 'ATP1B2', 'score': 10.81}, {'connected_gene': 'ALOX15B', 'score': 10.64}, {'connected_gene': 'EFNB3', 'score': 10.38}, {'connected_gene': 'WRAP53', 'score': 10.35}, {'connected_gene': 'GUCY2D', 'score': 9.92}, {'connected_gene': 'CNTROB', 'score': 9.63}, {'connected_gene': 'TRAPPC1', 'score': 9.63}, {'connected_gene': 'KCNAB3', 'score': 9.62}, {'connected_gene': 'CHRNB1', 'score': 5.62}]

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