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
ENST00000346248 [[125767183, 125769855], [125771848, 125771996], [125780771, 125780928], [125798030, 125798187], [125801816, 125801963], [125804095, 125804435], [125805182, 125806240], [125851839, 125851970]] [[125769664, 125769855], [125771848, 125771996], [125780771, 125780928], [125798030, 125798187], [125801816, 125801963], [125804095, 125804435], [125805182, 125805728]]
ENST00000421115 [[125780597, 125780928], [125798030, 125798187], [125801816, 125801963], [125804095, 125804435], [125805182, 125806240], [125852984, 125853206]] [[125780597, 125780928], [125798030, 125798187], [125801816, 125801963], [125804095, 125804435], [125805182, 125805728]]
ENST00000462406 [[125805528, 125806240], [125852984, 125853098]] None
ENST00000435907 [[125767185, 125769855], [125771848, 125771996], [125780771, 125780928], [125798030, 125798187], [125801816, 125801963], [125804095, 125804435], [125805182, 125806241]] [[125769664, 125769855], [125771848, 125771996], [125780771, 125780928], [125798030, 125798187], [125801816, 125801963], [125804095, 125804435], [125805182, 125805728]]
ENST00000476765 [[125780597, 125780928], [125798030, 125798135]] None
NM_015892 [[125767181, 125769855], [125771848, 125771996], [125780771, 125780928], [125798030, 125798187], [125801816, 125801963], [125804095, 125804435], [125805182, 125806240], [125851839, 125851940]] [[125769664, 125769855], [125771848, 125771996], [125780771, 125780928], [125798030, 125798187], [125801816, 125801963], [125804095, 125804435], [125805182, 125805728]]
NM_001270764 [[125767181, 125769855], [125771848, 125771996], [125780771, 125780928], [125798030, 125798187], [125801816, 125801963], [125804095, 125804435], [125805182, 125806240], [125852984, 125853123]] [[125769664, 125769855], [125771848, 125771996], [125780771, 125780928], [125798030, 125798187], [125801816, 125801963], [125804095, 125804435], [125805182, 125805728]]
NM_014863 [[125779168, 125780928], [125798030, 125798187], [125801816, 125801963], [125804095, 125804435], [125805182, 125806240], [125851839, 125851940]] [[125780597, 125780928], [125798030, 125798187], [125801816, 125801963], [125804095, 125804435], [125805182, 125805728]]
NM_001270765 [[125779168, 125780928], [125798030, 125798187], [125801816, 125801963], [125804095, 125804435], [125805182, 125806240], [125852984, 125853123]] [[125780597, 125780928], [125798030, 125798187], [125801816, 125801963], [125804095, 125804435], [125805182, 125805728]]
Promoter
Chrom Start End Description
chr10 125805382 125805387 CAGE_peak_11_at_CHST15_5end
chr10 125851877 125851901 CAGE_peak_4_at_CHST15_5end
chr10 125851906 125851944 CAGE_peak_1_at_CHST15_5end
chr10 125851961 125851968 CAGE_peak_7_at_CHST15_5end
chr10 125852191 125852216 CAGE_peak_5_at_CHST15_5end
chr10 125852243 125852266 CAGE_peak_10_at_CHST15_5end
chr10 125853048 125853095 CAGE_peak_2_at_CHST15_5end
chr10 125853099 125853128 CAGE_peak_3_at_CHST15_5end
chr10 125853200 125853208 CAGE_peak_6_at_CHST15_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I124645 124645444 124656791 1.69 [{'connected_gene': 'FAM53B', 'score': 23.66}, {'connected_gene': 'CHST15', 'score': 21.67}, {'connected_gene': 'EEF1AKMT2', 'score': 13.37}, {'connected_gene': 'LHPP', 'score': 5.41}, {'connected_gene': 'ZRANB1', 'score': 5.32}, {'connected_gene': 'GC10M124645', 'score': 0.34}, {'connected_gene': 'PIR48648', 'score': 0.34}, {'connected_gene': 'FAM53B-AS1', 'score': 0.23}, {'connected_gene': 'ENSG00000258539', 'score': 0.11}]
chr10 GH10I124635 124635728 124643335 1.56 [{'connected_gene': 'FAM53B', 'score': 27.8}, {'connected_gene': 'CHST15', 'score': 11.26}, {'connected_gene': 'ABRAXAS2', 'score': 10.64}, {'connected_gene': 'ZRANB1', 'score': 9.08}, {'connected_gene': 'EEF1AKMT2', 'score': 8.36}, {'connected_gene': 'GC10M124645', 'score': 0.39}, {'connected_gene': 'PIR48648', 'score': 0.39}, {'connected_gene': 'FAM53B-AS1', 'score': 0.21}, {'connected_gene': 'ENSG00000258539', 'score': 0.1}]
chr10 GH10I124534 124534202 124536751 1.07 [{'connected_gene': 'FAM53B', 'score': 17.51}, {'connected_gene': 'ABRAXAS2', 'score': 10.84}, {'connected_gene': 'EEF1AKMT2', 'score': 7.13}, {'connected_gene': 'LHPP', 'score': 6.94}, {'connected_gene': 'CHST15', 'score': 1.95}, {'connected_gene': 'GC10P124539', 'score': 0.77}, {'connected_gene': 'PIR39838', 'score': 0.77}, {'connected_gene': 'GC10P124510', 'score': 0.31}]
chr10 GH10I124000 124000710 124001200 0.38 [{'connected_gene': 'BUB3', 'score': 13.71}, {'connected_gene': 'CHST15', 'score': 11.53}, {'connected_gene': 'CPXM2', 'score': 4.95}, {'connected_gene': 'ENSG00000232334', 'score': 0.77}, {'connected_gene': 'YBX2P1', 'score': 0.44}]
chr10 GH10I124103 124103835 124104833 0.38 [{'connected_gene': 'BUB3', 'score': 13.71}, {'connected_gene': 'CHST15', 'score': 10.95}, {'connected_gene': 'LOC105378536', 'score': 0.25}]
chr10 GH10I123993 123993613 123998800 1.66 [{'connected_gene': 'CHST15', 'score': 79.75}, {'connected_gene': 'BUB3', 'score': 12.04}, {'connected_gene': 'EEF1AKMT2', 'score': 10.27}, {'connected_gene': 'ABRAXAS2', 'score': 10.04}, {'connected_gene': 'FAM53B', 'score': 7.44}, {'connected_gene': 'ENSG00000234677', 'score': 5.95}, {'connected_gene': 'YBX2P1', 'score': 0.77}, {'connected_gene': 'ENSG00000232334', 'score': 0.44}]
chr10 GH10I124045 124045048 124046656 0.52 [{'connected_gene': 'CHST15', 'score': 11.48}, {'connected_gene': 'BUB3', 'score': 10.44}, {'connected_gene': 'PIR49608', 'score': 0.37}, {'connected_gene': 'GC10M124074', 'score': 0.28}]
chr10 GH10I124332 124332400 124332843 0.69 [{'connected_gene': 'CHST15', 'score': 1.14}, {'connected_gene': 'OAT', 'score': 0.17}, {'connected_gene': 'LOC105378536', 'score': 0.09}]
chr10 GH10I124319 124319796 124320924 0.49 [{'connected_gene': 'CHST15', 'score': 14.96}, {'connected_gene': 'OAT', 'score': 0.15}, {'connected_gene': 'LOC105378536', 'score': 0.1}]
chr10 GH10I124284 124284929 124287121 1.43 [{'connected_gene': 'CHST15', 'score': 11.96}, {'connected_gene': 'OAT', 'score': 0.12}, {'connected_gene': 'LOC105378536', 'score': 0.12}]
chr10 GH10I124289 124289342 124291999 1.49 [{'connected_gene': 'CHST15', 'score': 1.79}, {'connected_gene': 'OAT', 'score': 0.13}, {'connected_gene': 'LOC105378536', 'score': 0.12}]
chr10 GH10I124091 124091401 124095682 2.41 [{'connected_gene': 'CHST15', 'score': 569.4}, {'connected_gene': 'EEF1AKMT2', 'score': 16.05}, {'connected_gene': 'GC10M124074', 'score': 0.44}]
chr10 GH10I124403 124403191 124404330 0.91 [{'connected_gene': 'CHST15', 'score': 10.59}, {'connected_gene': 'NKX1-2', 'score': 10.57}, {'connected_gene': 'OAT', 'score': 0.37}, {'connected_gene': 'LOC105378536', 'score': 0.07}]
chr10 GH10I124339 124339120 124342484 1.33 [{'connected_gene': 'CHST15', 'score': 15.75}, {'connected_gene': 'GPR26', 'score': 6.2}, {'connected_gene': 'FAM53B', 'score': 1.23}, {'connected_gene': 'OAT', 'score': 0.18}, {'connected_gene': 'LOC105378536', 'score': 0.09}]
chr10 GH10I124342 124342492 124342641 0.2 [{'connected_gene': 'CHST15', 'score': 10.43}, {'connected_gene': 'GPR26', 'score': 5.1}, {'connected_gene': 'OAT', 'score': 0.18}, {'connected_gene': 'LOC105378536', 'score': 0.08}]
chr10 GH10I124323 124323256 124323419 0.87 [{'connected_gene': 'CHST15', 'score': 11.3}, {'connected_gene': 'ABRAXAS2', 'score': 1.98}, {'connected_gene': 'OAT', 'score': 0.15}, {'connected_gene': 'LOC105378536', 'score': 0.09}]
chr10 GH10I124271 124271761 124271993 0.32 [{'connected_gene': 'CHST15', 'score': 1.77}, {'connected_gene': 'LOC105378536', 'score': 0.13}, {'connected_gene': 'OAT', 'score': 0.11}]
chr10 GH10I124266 124266374 124266713 0.41 [{'connected_gene': 'CHST15', 'score': 12.63}, {'connected_gene': 'LOC105378536', 'score': 0.13}, {'connected_gene': 'OAT', 'score': 0.1}]
chr10 GH10I124280 124280032 124280300 0.28 [{'connected_gene': 'CHST15', 'score': 11.86}, {'connected_gene': 'LOC105378536', 'score': 0.13}, {'connected_gene': 'OAT', 'score': 0.12}]
chr10 GH10I124096 124096901 124098328 0.43 [{'connected_gene': 'CHST15', 'score': 9.31}, {'connected_gene': 'LOC105378536', 'score': 0.23}]
chr10 GH10I124100 124100621 124100949 0.24 [{'connected_gene': 'CHST15', 'score': 8.86}, {'connected_gene': 'LOC105378536', 'score': 0.23}]
chr10 GH10I124099 124099697 124099957 0.52 [{'connected_gene': 'CHST15', 'score': 6.92}, {'connected_gene': 'LOC105378536', 'score': 0.23}]
chr10 GH10I124119 124119202 124120599 0.2 [{'connected_gene': 'CHST15', 'score': 0.31}, {'connected_gene': 'LOC105378536', 'score': 0.29}]
chr10 GH10I124105 124105045 124107664 1.2 [{'connected_gene': 'CHST15', 'score': 14.55}, {'connected_gene': 'LOC105378536', 'score': 0.26}]
chr10 GH10I123429 123429471 123430559 0.8 [{'connected_gene': 'CHST15', 'score': 4.95}, {'connected_gene': 'ENSG00000225152', 'score': 0.77}, {'connected_gene': 'LOC105378531', 'score': 0.18}, {'connected_gene': 'GC10M123502', 'score': 0.18}]
chr10 GH10I124047 124047901 124050294 1.06 [{'connected_gene': 'CHST15', 'score': 19.47}, {'connected_gene': 'PIR49608', 'score': 0.37}, {'connected_gene': 'GC10M124074', 'score': 0.28}]
chr10 GH10I124082 124082165 124083013 0.38 [{'connected_gene': 'CHST15', 'score': 6.72}, {'connected_gene': 'GC10M124074', 'score': 0.77}, {'connected_gene': 'PIR49608', 'score': 0.23}]
chr10 GH10I124035 124035002 124037200 1.7 [{'connected_gene': 'CHST15', 'score': 58.33}, {'connected_gene': 'PIR49608', 'score': 0.44}, {'connected_gene': 'GC10M124074', 'score': 0.25}]
chr10 GH10I124032 124032886 124034800 1.14 [{'connected_gene': 'CHST15', 'score': 16.98}, {'connected_gene': 'PIR49608', 'score': 0.77}, {'connected_gene': 'GC10M124074', 'score': 0.23}]
chr10 GH10I124042 124042277 124044909 1.32 [{'connected_gene': 'CHST15', 'score': 20.16}, {'connected_gene': 'PIR49608', 'score': 0.39}, {'connected_gene': 'GC10M124074', 'score': 0.26}]
chr10 GH10I124040 124039785 124039834 0.58 [{'connected_gene': 'CHST15', 'score': 11.71}, {'connected_gene': 'PIR49608', 'score': 0.44}, {'connected_gene': 'GC10M124074', 'score': 0.25}]
chr10 GH10I124026 124026605 124027880 0.4 [{'connected_gene': 'CHST15', 'score': 11.88}, {'connected_gene': 'PIR49608', 'score': 0.77}, {'connected_gene': 'ENSG00000232334', 'score': 0.34}]
chr10 GH10I124054 124054001 124054274 0.86 [{'connected_gene': 'CHST15', 'score': 12.26}, {'connected_gene': 'PIR49608', 'score': 0.34}, {'connected_gene': 'GC10M124074', 'score': 0.29}]
chr10 GH10I124013 124013474 124014639 0.31 [{'connected_gene': 'CHST15', 'score': 16.01}, {'connected_gene': 'ENSG00000232334', 'score': 0.44}, {'connected_gene': 'PIR49608', 'score': 0.37}]
chr10 GH10I124039 124039685 124039760 0.58 [{'connected_gene': 'CHST15', 'score': 11.71}, {'connected_gene': 'PIR49608', 'score': 0.44}, {'connected_gene': 'GC10M124074', 'score': 0.25}]
chr10 GH10I124041 124040201 124040869 0.88 [{'connected_gene': 'CHST15', 'score': 46.44}, {'connected_gene': 'PIR49608', 'score': 0.39}, {'connected_gene': 'GC10M124074', 'score': 0.26}]
chr10 GH10I124074 124074163 124076433 0.94 [{'connected_gene': 'CHST15', 'score': 6.93}, {'connected_gene': 'GC10M124074', 'score': 0.44}, {'connected_gene': 'PIR49608', 'score': 0.26}]
chr10 GH10I124008 124008299 124011134 0.72 [{'connected_gene': 'CHST15', 'score': 25.9}, {'connected_gene': 'ENSG00000232334', 'score': 0.77}, {'connected_gene': 'PIR49608', 'score': 0.34}]
chr10 GH10I124079 124079347 124080810 0.63 [{'connected_gene': 'CHST15', 'score': 6.2}, {'connected_gene': 'GC10M124074', 'score': 0.77}, {'connected_gene': 'PIR49608', 'score': 0.25}]
chr10 GH10I124062 124062168 124067999 1.26 [{'connected_gene': 'CHST15', 'score': 19.9}, {'connected_gene': 'GC10M124074', 'score': 0.37}, {'connected_gene': 'PIR49608', 'score': 0.29}]
chr10 GH10I124072 124072001 124072400 0.63 [{'connected_gene': 'CHST15', 'score': 12.42}, {'connected_gene': 'GC10M124074', 'score': 0.39}, {'connected_gene': 'PIR49608', 'score': 0.26}]
chr10 GH10I124037 124037308 124038676 0.4 [{'connected_gene': 'CHST15', 'score': 12.16}, {'connected_gene': 'PIR49608', 'score': 0.44}, {'connected_gene': 'GC10M124074', 'score': 0.25}]
chr10 GH10I124068 124068889 124070116 0.4 [{'connected_gene': 'CHST15', 'score': 19.11}, {'connected_gene': 'GC10M124074', 'score': 0.37}, {'connected_gene': 'PIR49608', 'score': 0.28}]
chr10 GH10I124089 124089601 124089800 0.4 [{'connected_gene': 'CHST15', 'score': 6.69}, {'connected_gene': 'GC10M124074', 'score': 0.77}]
chr10 GH10I124088 124088145 124089000 1.09 [{'connected_gene': 'CHST15', 'score': 9.64}, {'connected_gene': 'GC10M124074', 'score': 0.77}]
chr10 GH10I124388 124388524 124389800 1.04 [{'connected_gene': 'OAT', 'score': 17.98}, {'connected_gene': 'CHST15', 'score': 10.73}, {'connected_gene': 'LOC105378536', 'score': 0.07}]
chr10 GH10I124354 124354267 124355761 1.15 [{'connected_gene': 'EEF1AKMT2', 'score': 10.28}, {'connected_gene': 'CHST15', 'score': 6.0}, {'connected_gene': 'OAT', 'score': 5.78}, {'connected_gene': 'LOC105378536', 'score': 0.08}]
chr10 GH10I124077 124077142 124078940 0.57 [{'connected_gene': 'EEF1AKMT2', 'score': 16.06}, {'connected_gene': 'CHST15', 'score': 6.87}, {'connected_gene': 'GC10M124074', 'score': 0.44}, {'connected_gene': 'PIR49608', 'score': 0.25}]
chr10 GH10I124307 124305652 124306166 0.99 [{'connected_gene': 'EEF1AKMT2', 'score': 11.54}, {'connected_gene': 'CTBP2', 'score': 10.81}, {'connected_gene': 'ABRAXAS2', 'score': 1.66}, {'connected_gene': 'CHST15', 'score': 1.36}, {'connected_gene': 'OAT', 'score': 0.14}, {'connected_gene': 'LOC105378536', 'score': 0.1}]
chr10 GH10I124424 124424954 124426391 0.74 [{'connected_gene': 'NKX1-2', 'score': 12.39}, {'connected_gene': 'CHST15', 'score': 9.76}, {'connected_gene': 'FAM53B', 'score': 9.11}, {'connected_gene': 'OAT', 'score': 0.44}, {'connected_gene': 'OATP1', 'score': 0.37}]
chr10 GH10I124427 124427377 124430433 0.85 [{'connected_gene': 'NKX1-2', 'score': 13.05}, {'connected_gene': 'CHST15', 'score': 9.76}, {'connected_gene': 'FAM53B', 'score': 9.11}, {'connected_gene': 'OAT', 'score': 0.44}, {'connected_gene': 'OATP1', 'score': 0.37}]
chr10 GH10I124406 124406765 124408457 0.31 [{'connected_gene': 'NKX1-2', 'score': 11.09}, {'connected_gene': 'CHST15', 'score': 10.59}, {'connected_gene': 'FAM53B', 'score': 10.11}, {'connected_gene': 'OAT', 'score': 7.58}, {'connected_gene': 'LOC105378536', 'score': 0.07}]
chr10 GH10I124305 124305195 124305453 0.66 [{'connected_gene': 'ABRAXAS2', 'score': 2.12}, {'connected_gene': 'CHST15', 'score': 1.6}, {'connected_gene': 'OAT', 'score': 0.14}, {'connected_gene': 'LOC105378536', 'score': 0.1}]
chr10 GH10I123963 123963892 123964048 0.25 [{'connected_gene': 'CPXM2', 'score': 12.03}, {'connected_gene': 'YBX2P1', 'score': 0.31}, {'connected_gene': 'CHST15', 'score': 0.13}]
chr10 GH10I124144 124144201 124145999 0.2 [{'connected_gene': 'LOC105378536', 'score': 0.44}, {'connected_gene': 'CHST15', 'score': 0.23}]
chr10 GH10I124138 124138400 124138601 0.2 [{'connected_gene': 'LOC105378536', 'score': 0.39}, {'connected_gene': 'CHST15', 'score': 0.26}]
chr10 GH10I124125 124125800 124126000 0.2 [{'connected_gene': 'LOC105378536', 'score': 0.31}, {'connected_gene': 'CHST15', 'score': 0.29}]
chr10 GH10I123972 123972585 123972734 0.52 [{'connected_gene': 'YBX2P1', 'score': 0.37}, {'connected_gene': 'CPXM2', 'score': 0.29}, {'connected_gene': 'CHST15', 'score': 0.13}]
chr10 GH10I123967 123967725 123967954 0.64 [{'connected_gene': 'YBX2P1', 'score': 0.34}, {'connected_gene': 'CPXM2', 'score': 0.31}, {'connected_gene': 'CHST15', 'score': 0.13}]
chr10 GH10I124005 124004725 124004874 0.88 [{'connected_gene': 'ENSG00000232334', 'score': 550.77}, {'connected_gene': 'CHST15', 'score': 11.54}, {'connected_gene': 'YBX2P1', 'score': 0.39}]
chr10 GH10I124019 124019830 124022097 0.49 [{'connected_gene': 'PIR49608', 'score': 0.44}, {'connected_gene': 'ENSG00000232334', 'score': 0.37}, {'connected_gene': 'CHST15', 'score': 0.19}]
chr10 GH10I124030 124030611 124032827 0.31 [{'connected_gene': 'PIR49608', 'score': 550.77}, {'connected_gene': 'CHST15', 'score': 11.29}, {'connected_gene': 'GC10M124074', 'score': 0.23}]
chr10 GH10I124004 124004951 124005733 0.83 [{'connected_gene': 'ENSG00000232334', 'score': 550.77}, {'connected_gene': 'CHST15', 'score': 11.54}, {'connected_gene': 'PIR49608', 'score': 0.31}]
chr10 GH10I124083 124083740 124085200 0.89 [{'connected_gene': 'GC10M124074', 'score': 550.77}, {'connected_gene': 'NKX1-2', 'score': 9.05}, {'connected_gene': 'CHST15', 'score': 7.75}, {'connected_gene': 'PIR49608', 'score': 0.23}]
chr10 GH10I124085 124085462 124086600 0.71 [{'connected_gene': 'GC10M124074', 'score': 550.77}, {'connected_gene': 'NKX1-2', 'score': 9.05}, {'connected_gene': 'CHST15', 'score': 0.44}]