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
ENST00000261425 [[39046658, 39046716], [39064178, 39064655], [39077584, 39077767], [39082722, 39082859], [39083582, 39083779], [39088134, 39088347], [39098311, 39098498], [39104906, 39105131], [39109188, 39109351], [39114639, 39114852], [39116778, 39116950], [39122629, 39123829]] [[39064272, 39064655], [39077584, 39077767], [39082722, 39082859], [39083582, 39083779], [39088134, 39088347], [39098311, 39098498], [39104906, 39105131], [39109188, 39109351], [39114639, 39114852], [39116778, 39116950], [39122629, 39122686]]
ENST00000508137 [[39046679, 39046716], [39077584, 39077767], [39082722, 39082859], [39083582, 39083779], [39088134, 39088347], [39098311, 39098498], [39104906, 39105131], [39109188, 39109351], [39114639, 39114852], [39116778, 39116950], [39122629, 39123828]] [[39077624, 39077767], [39082722, 39082859], [39083582, 39083779], [39088134, 39088347], [39098311, 39098498], [39104906, 39105131], [39109188, 39109351], [39114639, 39114852], [39116778, 39116950], [39122629, 39122686]]
ENST00000504108 [[39063851, 39064655], [39077584, 39077767], [39082722, 39082859], [39083582, 39083779], [39088134, 39088347], [39098311, 39098498], [39104906, 39105131], [39109188, 39109351], [39114639, 39114852], [39116778, 39116950], [39122629, 39122825]] [[39064134, 39064655], [39077584, 39077767], [39082722, 39082859], [39083582, 39083779], [39088134, 39088347], [39098311, 39098498], [39104906, 39105131], [39109188, 39109351], [39114639, 39114852], [39116778, 39116950], [39122629, 39122686]]
ENST00000359687 [[39063851, 39064655], [39077584, 39077767], [39082722, 39082859], [39083582, 39083779], [39088134, 39088347], [39098311, 39098498], [39104906, 39105131], [39109188, 39109351], [39114639, 39114852], [39116778, 39116950], [39128313, 39128415]] [[39064134, 39064655], [39077584, 39077767], [39082722, 39082859], [39083582, 39083779], [39088134, 39088347], [39098311, 39098498], [39104906, 39105131], [39109188, 39109351], [39114639, 39114852], [39116778, 39116950], [39128313, 39128415]]
ENST00000381930 [[39064059, 39064655], [39077584, 39077767], [39082722, 39082859], [39083582, 39083779], [39088134, 39088347], [39098311, 39098498], [39104906, 39105131], [39109188, 39109351], [39114639, 39114852], [39116778, 39117952]] [[39064134, 39064655], [39077584, 39077767], [39082722, 39082859], [39083582, 39083779], [39088134, 39088347], [39098311, 39098498], [39104906, 39105131], [39109188, 39109351], [39114639, 39114852], [39116778, 39117013]]
ENST00000261426 [[39064059, 39064655], [39082722, 39082859], [39083582, 39083779], [39088134, 39088347], [39098311, 39098498], [39104906, 39105131], [39109188, 39109351], [39114639, 39114852], [39116778, 39116950], [39122629, 39123826]] [[39064134, 39064655], [39082722, 39082859], [39083582, 39083779], [39088134, 39088347], [39098311, 39098498], [39104906, 39105131], [39109188, 39109351], [39114639, 39114852], [39116778, 39116950], [39122629, 39122686]]
ENST00000514399 [[39064559, 39064655], [39065191, 39065417], [39077584, 39077767], [39082722, 39082802]] [[39064559, 39064655], [39065191, 39065204]]
ENST00000515612 [[39104934, 39105131], [39109188, 39109351], [39114639, 39114852], [39116778, 39116950], [39128313, 39128477]] [[39104934, 39105131], [39109188, 39109351], [39114639, 39114852], [39116778, 39116950], [39128313, 39128415]]
NM_001171654 [[39046450, 39046716], [39077584, 39077767], [39082722, 39082859], [39083582, 39083779], [39088134, 39088347], [39098311, 39098498], [39104906, 39105131], [39109188, 39109351], [39114639, 39114852], [39116778, 39116950], [39122629, 39127853]] [[39077624, 39077767], [39082722, 39082859], [39083582, 39083779], [39088134, 39088347], [39098311, 39098498], [39104906, 39105131], [39109188, 39109351], [39114639, 39114852], [39116778, 39116950], [39122629, 39122686]]
NM_001007075 [[39046450, 39046716], [39064178, 39064655], [39077584, 39077767], [39082722, 39082859], [39083582, 39083779], [39088134, 39088347], [39098311, 39098498], [39104906, 39105131], [39109188, 39109351], [39114639, 39114852], [39116778, 39116950], [39122629, 39127853]] [[39064272, 39064655], [39077584, 39077767], [39082722, 39082859], [39083582, 39083779], [39088134, 39088347], [39098311, 39098498], [39104906, 39105131], [39109188, 39109351], [39114639, 39114852], [39116778, 39116950], [39122629, 39122686]]
NM_199039 [[39063851, 39064655], [39082722, 39082859], [39083582, 39083779], [39088134, 39088347], [39098311, 39098498], [39104906, 39105131], [39109188, 39109351], [39114639, 39114852], [39116778, 39116950], [39122629, 39127853]] [[39064134, 39064655], [39082722, 39082859], [39083582, 39083779], [39088134, 39088347], [39098311, 39098498], [39104906, 39105131], [39109188, 39109351], [39114639, 39114852], [39116778, 39116950], [39122629, 39122686]]
NM_015990 [[39063851, 39064655], [39077584, 39077767], [39082722, 39082859], [39083582, 39083779], [39088134, 39088347], [39098311, 39098498], [39104906, 39105131], [39109188, 39109351], [39114639, 39114852], [39116778, 39116950], [39122629, 39127853]] [[39064134, 39064655], [39077584, 39077767], [39082722, 39082859], [39083582, 39083779], [39088134, 39088347], [39098311, 39098498], [39104906, 39105131], [39109188, 39109351], [39114639, 39114852], [39116778, 39116950], [39122629, 39122686]]
Promoter
Chrom Start End Description
chr4 39046232 39046330 CAGE_peak_3_at_KLHL5_5end
chr4 39046399 39046478 CAGE_peak_1_at_KLHL5_5end
chr4 39046480 39046562 CAGE_peak_2_at_KLHL5_5end
chr4 39046615 39046626 CAGE_peak_5_at_KLHL5_5end
chr4 39064242 39064280 CAGE_peak_6_at_KLHL5_5end
chr4 39064313 39064326 CAGE_peak_7_at_KLHL5_5end
chr4 39064570 39064587 CAGE_peak_9_at_KLHL5_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I039014 39014490 39020682 0.49 [{'connected_gene': 'TMEM156', 'score': 14.7}, {'connected_gene': 'ENSG00000249685', 'score': 13.76}, {'connected_gene': 'KLHL5', 'score': 6.24}, {'connected_gene': 'ENSG00000249207', 'score': 5.2}, {'connected_gene': 'GC04P038912', 'score': 0.14}]
chr4 GH04I039546 39546638 39546886 0.22 [{'connected_gene': 'RPL9', 'score': 11.15}, {'connected_gene': 'SMIM14', 'score': 10.77}, {'connected_gene': 'LOC105374419', 'score': 10.77}, {'connected_gene': 'KLHL5', 'score': 1.71}, {'connected_gene': 'GC04M039547', 'score': 0.77}, {'connected_gene': 'UGDH-AS1', 'score': 0.37}, {'connected_gene': 'UGDH', 'score': 0.37}]
chr4 GH04I039024 39024944 39029280 1.2 [{'connected_gene': 'WDR19', 'score': 19.4}, {'connected_gene': 'TMEM156', 'score': 14.78}, {'connected_gene': 'ENSG00000249685', 'score': 14.34}, {'connected_gene': 'PDS5A', 'score': 14.26}, {'connected_gene': 'KLHL5', 'score': 4.53}, {'connected_gene': 'GC04P038912', 'score': 0.14}]
chr4 GH04I039181 39181484 39183801 1.5 [{'connected_gene': 'WDR19', 'score': 556.26}, {'connected_gene': 'ENSG00000249685', 'score': 8.83}, {'connected_gene': 'KLHL5', 'score': 5.11}, {'connected_gene': 'RNU6-32P', 'score': 0.13}, {'connected_gene': 'GC04P038912', 'score': 0.06}]
chr4 GH04I038661 38661400 38676314 2.61 [{'connected_gene': 'KLF3', 'score': 565.01}, {'connected_gene': 'KLF3-AS1', 'score': 29.14}, {'connected_gene': 'ENSG00000271958', 'score': 13.56}, {'connected_gene': 'RFC1', 'score': 11.52}, {'connected_gene': 'HNRNPRP3', 'score': 10.47}, {'connected_gene': 'PGM2', 'score': 10.36}, {'connected_gene': 'KLHL5', 'score': 6.14}, {'connected_gene': 'TLR6', 'score': 3.31}, {'connected_gene': 'TLR1', 'score': 3.15}, {'connected_gene': 'LOC105374413', 'score': 0.18}]
chr4 GH04I038941 38941262 38944160 0.63 [{'connected_gene': 'KLHL5', 'score': 11.16}, {'connected_gene': 'FAM114A1', 'score': 5.02}, {'connected_gene': 'GC04P038912', 'score': 0.29}, {'connected_gene': 'TMEM156', 'score': 0.16}]
chr4 GH04I039062 39062302 39062361 0.73 [{'connected_gene': 'KLHL5', 'score': 550.37}, {'connected_gene': 'ENSG00000249207', 'score': 11.23}, {'connected_gene': 'ENSG00000249685', 'score': 11.21}, {'connected_gene': 'FAM114A1', 'score': 10.3}, {'connected_gene': 'MIR574', 'score': 10.3}, {'connected_gene': 'TLR6', 'score': 10.3}, {'connected_gene': 'TLR1', 'score': 10.3}, {'connected_gene': 'LOC105374418', 'score': 0.28}, {'connected_gene': 'GC04P038912', 'score': 0.11}]
chr4 GH04I038983 38983942 38986697 1.15 [{'connected_gene': 'KLHL5', 'score': 16.92}, {'connected_gene': 'TMEM156', 'score': 12.34}, {'connected_gene': 'ENSG00000249685', 'score': 11.05}, {'connected_gene': 'ENSG00000249207', 'score': 11.05}, {'connected_gene': 'FAM114A1', 'score': 10.17}, {'connected_gene': 'MIR574', 'score': 10.17}, {'connected_gene': 'RNU6-32P', 'score': 9.52}, {'connected_gene': 'RFC1', 'score': 9.51}, {'connected_gene': 'RPL9', 'score': 6.26}, {'connected_gene': 'GC04P038912', 'score': 0.19}]
chr4 GH04I039040 39040539 39048600 2.68 [{'connected_gene': 'KLHL5', 'score': 561.36}, {'connected_gene': 'ENSG00000249685', 'score': 17.23}, {'connected_gene': 'TMEM156', 'score': 6.28}, {'connected_gene': 'TLR1', 'score': 2.79}, {'connected_gene': 'TLR6', 'score': 2.52}, {'connected_gene': 'KLF3', 'score': 2.1}, {'connected_gene': 'GC04P038912', 'score': 0.12}]
chr4 GH04I038989 38989787 38990891 0.63 [{'connected_gene': 'KLHL5', 'score': 16.8}, {'connected_gene': 'ENSG00000249685', 'score': 15.5}, {'connected_gene': 'TMEM156', 'score': 12.35}, {'connected_gene': 'ENSG00000249207', 'score': 11.05}, {'connected_gene': 'MIR574', 'score': 9.88}, {'connected_gene': 'FAM114A1', 'score': 9.88}, {'connected_gene': 'GC04P038912', 'score': 0.18}]
chr4 GH04I038994 38994285 38998654 0.52 [{'connected_gene': 'KLHL5', 'score': 17.76}, {'connected_gene': 'ENSG00000249685', 'score': 16.5}, {'connected_gene': 'TMEM156', 'score': 13.19}, {'connected_gene': 'ENSG00000249207', 'score': 11.45}, {'connected_gene': 'MIR574', 'score': 11.11}, {'connected_gene': 'FAM114A1', 'score': 11.11}, {'connected_gene': 'GC04P038912', 'score': 0.18}]
chr4 GH04I038958 38958269 38959356 0.66 [{'connected_gene': 'KLHL5', 'score': 12.03}, {'connected_gene': 'ENSG00000249207', 'score': 11.27}, {'connected_gene': 'ENSG00000249685', 'score': 11.26}, {'connected_gene': 'GC04P038912', 'score': 0.25}, {'connected_gene': 'TMEM156', 'score': 0.19}]
chr4 GH04I039007 39007927 39009883 0.2 [{'connected_gene': 'KLHL5', 'score': 12.71}, {'connected_gene': 'TMEM156', 'score': 0.34}, {'connected_gene': 'GC04P038912', 'score': 0.15}]
chr4 GH04I038980 38980689 38982248 0.86 [{'connected_gene': 'KLHL5', 'score': 15.52}, {'connected_gene': 'ENSG00000249207', 'score': 10.8}, {'connected_gene': 'ENSG00000249685', 'score': 10.79}, {'connected_gene': 'MIR574', 'score': 9.89}, {'connected_gene': 'FAM114A1', 'score': 9.89}, {'connected_gene': 'TMEM156', 'score': 0.23}, {'connected_gene': 'GC04P038912', 'score': 0.2}]
chr4 GH04I039003 39003341 39006212 0.2 [{'connected_gene': 'KLHL5', 'score': 17.57}, {'connected_gene': 'ENSG00000249685', 'score': 5.39}, {'connected_gene': 'RPL9', 'score': 5.18}, {'connected_gene': 'TMEM156', 'score': 0.31}, {'connected_gene': 'GC04P038912', 'score': 0.16}]
chr4 GH04I038999 38999235 39000740 0.31 [{'connected_gene': 'KLHL5', 'score': 16.71}, {'connected_gene': 'ENSG00000249207', 'score': 11.08}, {'connected_gene': 'ENSG00000249685', 'score': 11.07}, {'connected_gene': 'RPL9', 'score': 5.63}, {'connected_gene': 'KLB', 'score': 4.69}, {'connected_gene': 'TMEM156', 'score': 0.29}, {'connected_gene': 'GC04P038912', 'score': 0.17}]
chr4 GH04I038948 38948071 38950044 1.2 [{'connected_gene': 'KLHL5', 'score': 10.82}, {'connected_gene': 'KLB', 'score': 10.29}, {'connected_gene': 'RNU6-887P', 'score': 10.29}, {'connected_gene': 'KLF3', 'score': 4.75}, {'connected_gene': 'GC04P038912', 'score': 0.28}, {'connected_gene': 'TMEM156', 'score': 0.18}]
chr4 GH04I039048 39048801 39049000 0.4 [{'connected_gene': 'KLHL5', 'score': 0.77}, {'connected_gene': 'LOC105374418', 'score': 0.23}, {'connected_gene': 'GC04P038912', 'score': 0.12}]
chr4 GH04I038210 38210401 38212200 0.77 [{'connected_gene': 'KLHL5', 'score': 4.49}, {'connected_gene': 'GC04P038187', 'score': 0.31}, {'connected_gene': 'PIR31939', 'score': 0.31}, {'connected_gene': 'GC04P038183', 'score': 0.31}, {'connected_gene': 'GC04P038184', 'score': 0.31}, {'connected_gene': 'GC04P038188', 'score': 0.31}, {'connected_gene': 'LOC105374408', 'score': 0.29}]
chr4 GH04I038209 38209469 38210287 0.59 [{'connected_gene': 'KLHL5', 'score': 5.19}, {'connected_gene': 'GC04P038187', 'score': 0.31}, {'connected_gene': 'PIR31939', 'score': 0.31}, {'connected_gene': 'GC04P038183', 'score': 0.31}, {'connected_gene': 'GC04P038184', 'score': 0.31}, {'connected_gene': 'GC04P038188', 'score': 0.31}, {'connected_gene': 'LOC105374408', 'score': 0.29}]
chr4 GH04I038855 38855317 38859275 2.52 [{'connected_gene': 'TLR6', 'score': 596.44}, {'connected_gene': 'TLR1', 'score': 578.57}, {'connected_gene': 'FAM114A1', 'score': 9.34}, {'connected_gene': 'KLF3', 'score': 8.63}, {'connected_gene': 'KLHL5', 'score': 1.36}]
chr4 GH04I039035 39035394 39038656 1.12 [{'connected_gene': 'ENSG00000249685', 'score': 15.43}, {'connected_gene': 'TMEM156', 'score': 14.76}, {'connected_gene': 'ENSG00000249207', 'score': 6.34}, {'connected_gene': 'WDR19', 'score': 4.87}, {'connected_gene': 'KLHL5', 'score': 0.44}, {'connected_gene': 'GC04P038912', 'score': 0.13}]
chr4 GH04I038988 38988409 38989697 0.63 [{'connected_gene': 'ENSG00000249685', 'score': 15.28}, {'connected_gene': 'TMEM156', 'score': 12.35}, {'connected_gene': 'KLHL5', 'score': 11.41}, {'connected_gene': 'ENSG00000249207', 'score': 11.05}, {'connected_gene': 'MIR574', 'score': 9.88}, {'connected_gene': 'FAM114A1', 'score': 9.88}, {'connected_gene': 'GC04P038912', 'score': 0.18}]
chr4 GH04I039134 39134669 39135799 1.06 [{'connected_gene': 'ENSG00000249685', 'score': 550.77}, {'connected_gene': 'RFC1', 'score': 20.58}, {'connected_gene': 'PDS5A', 'score': 16.01}, {'connected_gene': 'ZBTB12BP', 'score': 12.8}, {'connected_gene': 'RNU6-32P', 'score': 10.59}, {'connected_gene': 'N4BP2', 'score': 10.38}, {'connected_gene': 'FAM114A1', 'score': 10.21}, {'connected_gene': 'MIR574', 'score': 10.21}, {'connected_gene': 'TLR1', 'score': 9.86}, {'connected_gene': 'TLR6', 'score': 9.86}, {'connected_gene': 'WDR19', 'score': 9.54}, {'connected_gene': 'KLHL5', 'score': 5.79}, {'connected_gene': 'GC04P038912', 'score': 0.07}]
chr4 GH04I039063 39062478 39063000 0.46 [{'connected_gene': 'ENSG00000249207', 'score': 11.23}, {'connected_gene': 'ENSG00000249685', 'score': 11.21}, {'connected_gene': 'KLHL5', 'score': 10.46}, {'connected_gene': 'MIR574', 'score': 10.3}, {'connected_gene': 'FAM114A1', 'score': 10.3}, {'connected_gene': 'TLR1', 'score': 10.3}, {'connected_gene': 'TLR6', 'score': 10.3}, {'connected_gene': 'LOC105374418', 'score': 0.28}, {'connected_gene': 'GC04P038912', 'score': 0.1}]
chr4 GH04I039285 39285041 39285857 0.49 [{'connected_gene': 'ENSG00000249685', 'score': 18.04}, {'connected_gene': 'ENSG00000249207', 'score': 10.24}, {'connected_gene': 'KLHL5', 'score': 9.77}, {'connected_gene': 'WDR19', 'score': 6.46}, {'connected_gene': 'RNU6-32P', 'score': 0.39}, {'connected_gene': 'GC04P038912', 'score': 0.05}]
chr4 GH04I039049 39049861 39055614 0.6 [{'connected_gene': 'ENSG00000249685', 'score': 26.82}, {'connected_gene': 'PDS5A', 'score': 16.01}, {'connected_gene': 'ZBTB12BP', 'score': 12.8}, {'connected_gene': 'KLHL5', 'score': 11.05}, {'connected_gene': 'ENSG00000249207', 'score': 10.69}, {'connected_gene': 'MIR574', 'score': 10.23}, {'connected_gene': 'FAM114A1', 'score': 10.23}, {'connected_gene': 'TLR1', 'score': 10.12}, {'connected_gene': 'TLR6', 'score': 10.12}, {'connected_gene': 'RFC1', 'score': 10.07}, {'connected_gene': 'RPL9', 'score': 7.25}, {'connected_gene': 'LOC105374418', 'score': 0.25}, {'connected_gene': 'GC04P038912', 'score': 0.11}]

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