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
ENST00000561924 [[67063018, 67063052], [67063629, 67063716], [67070541, 67070658], [67100584, 67100701], [67116115, 67116242], [67132612, 67132714]] [[67100602, 67100701], [67116115, 67116242], [67132612, 67132635]]
ENST00000290858 [[67063049, 67063388], [67063629, 67063716], [67070541, 67070658], [67100584, 67100701], [67116115, 67116242], [67132612, 67134961]] [[67063310, 67063388], [67063629, 67063716], [67070541, 67070658], [67100584, 67100701], [67116115, 67116242], [67132612, 67132635]]
ENST00000412916 [[67063147, 67063388], [67063629, 67063716], [67070541, 67070658], [67100584, 67100701], [67116115, 67116211], [67132612, 67134925]] [[67063310, 67063388], [67063629, 67063716], [67070541, 67070658], [67100584, 67100701], [67116115, 67116211], [67132612, 67132681]]
ENST00000565389 [[67063363, 67063388], [67063629, 67063716], [67132612, 67133346]] [[67063363, 67063388], [67063629, 67063716], [67132612, 67132681]]
ENST00000563939 [[67063854, 67064080], [67070541, 67070658], [67100584, 67100701], [67116115, 67116200]] [[67100602, 67100701], [67116115, 67116200]]
ENST00000564034 [[67063081, 67063388], [67063629, 67063716], [67100584, 67100699]] [[67063310, 67063388], [67063629, 67063716], [67100584, 67100699]]
ENST00000567947 [[67070329, 67070658], [67100584, 67100865]] None
ENST00000566281 [[67115987, 67116211], [67132612, 67132872]] None
ENST00000568858 [[67127300, 67127532], [67132612, 67133294]] None
NM_022845 [[67063049, 67063388], [67063629, 67063716], [67070541, 67070658], [67100584, 67100701], [67116115, 67116211], [67132612, 67134961]] [[67063310, 67063388], [67063629, 67063716], [67070541, 67070658], [67100584, 67100701], [67116115, 67116211], [67132612, 67132681]]
NM_001755 [[67063049, 67063388], [67063629, 67063716], [67070541, 67070658], [67100584, 67100701], [67116115, 67116242], [67132612, 67134961]] [[67063310, 67063388], [67063629, 67063716], [67070541, 67070658], [67100584, 67100701], [67116115, 67116242], [67132612, 67132635]]
Promoter
Chrom Start End Description
chr16 67062996 67063016 CAGE_peak_3_at_CBFB_5end
chr16 67063036 67063088 CAGE_peak_1_at_CBFB_5end
chr16 67063142 67063153 CAGE_peak_4_at_CBFB_5end
chr16 67063211 67063240 CAGE_peak_2_at_CBFB_5end
chr16 67063248 67063261 CAGE_peak_5_at_CBFB_5end
chr16 67063262 67063273 CAGE_peak_7_at_CBFB_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I067010 67010846 67012372 0.49 [{'connected_gene': 'ATP6V0D1', 'score': 10.17}, {'connected_gene': 'CBFB', 'score': 6.01}, {'connected_gene': 'ENSG00000260465', 'score': 5.68}, {'connected_gene': 'ENSG00000280334', 'score': 0.77}, {'connected_gene': 'GC16P067020', 'score': 0.44}]
chr16 GH16I067062 67062255 67063615 0.57 [{'connected_gene': 'ATP6V0D1', 'score': 4.54}, {'connected_gene': 'CBFB', 'score': 0.29}, {'connected_gene': 'GC16P067102', 'score': 0.28}]
chr16 GH16I067054 67054943 67056777 1.06 [{'connected_gene': 'ATP6V0D1', 'score': 4.84}, {'connected_gene': 'ENSG00000260465', 'score': 4.51}, {'connected_gene': 'CBFB', 'score': 0.31}, {'connected_gene': 'GC16P067102', 'score': 0.25}]
chr16 GH16I067114 67114403 67117604 1.41 [{'connected_gene': 'ATP6V0D1', 'score': 12.65}, {'connected_gene': 'C16orf70', 'score': 5.69}, {'connected_gene': 'ENSG00000260465', 'score': 5.65}, {'connected_gene': 'CBFB', 'score': 5.0}, {'connected_gene': 'KIAA0895L', 'score': 4.08}, {'connected_gene': 'RIPOR1', 'score': 2.25}, {'connected_gene': 'LRRC29', 'score': 1.9}, {'connected_gene': 'FHOD1', 'score': 1.33}, {'connected_gene': 'PIR51258', 'score': 0.29}]
chr16 GH16I067022 67022363 67023378 0.59 [{'connected_gene': 'ATP6V0D1', 'score': 7.56}, {'connected_gene': 'RN7SL543P', 'score': 0.77}, {'connected_gene': 'CBFB', 'score': 0.44}]
chr16 GH16I066871 66871289 66876391 1.89 [{'connected_gene': 'NAE1', 'score': 550.77}, {'connected_gene': 'CES2', 'score': 24.74}, {'connected_gene': 'E2F4', 'score': 16.72}, {'connected_gene': 'CA7', 'score': 15.97}, {'connected_gene': 'PLEKHG4', 'score': 12.66}, {'connected_gene': 'ZDHHC1', 'score': 12.48}, {'connected_gene': 'ENSG00000260465', 'score': 11.29}, {'connected_gene': 'FAM96B', 'score': 10.87}, {'connected_gene': 'FBXL8', 'score': 10.25}, {'connected_gene': 'CTCF', 'score': 10.19}, {'connected_gene': 'TRADD', 'score': 10.12}, {'connected_gene': 'FHOD1', 'score': 7.82}, {'connected_gene': 'B3GNT9', 'score': 7.27}, {'connected_gene': 'LINC00920', 'score': 5.85}, {'connected_gene': 'CDH16', 'score': 5.19}, {'connected_gene': 'TERB1', 'score': 4.89}, {'connected_gene': 'PDP2', 'score': 3.26}, {'connected_gene': 'CMTM4', 'score': 3.03}, {'connected_gene': 'CES4A', 'score': 2.92}, {'connected_gene': 'DYNC1LI2', 'score': 2.27}, {'connected_gene': 'SLC9A5', 'score': 2.14}, {'connected_gene': 'CES3', 'score': 2.09}, {'connected_gene': 'KIAA0895L', 'score': 1.66}, {'connected_gene': 'CBFB', 'score': 1.19}]
chr16 GH16I067310 67310692 67313591 1.46 [{'connected_gene': 'NAE1', 'score': 40.27}, {'connected_gene': 'ZDHHC1', 'score': 21.05}, {'connected_gene': 'PLEKHG4', 'score': 17.39}, {'connected_gene': 'ENSG00000260465', 'score': 16.3}, {'connected_gene': 'ACD', 'score': 12.64}, {'connected_gene': 'KIAA0895L', 'score': 12.07}, {'connected_gene': 'PRMT7', 'score': 11.28}, {'connected_gene': 'CENPT', 'score': 10.81}, {'connected_gene': 'EDC4', 'score': 10.01}, {'connected_gene': 'RRAD', 'score': 4.23}, {'connected_gene': 'ATP6V0D1', 'score': 4.08}, {'connected_gene': 'FHOD1', 'score': 2.62}, {'connected_gene': 'CBFB', 'score': 2.05}, {'connected_gene': 'RIPOR1', 'score': 1.9}, {'connected_gene': 'PIR41644', 'score': 0.44}, {'connected_gene': 'PIR58758', 'score': 0.39}, {'connected_gene': 'KCTD19', 'score': 0.39}]
chr16 GH16I066977 66977600 66978001 1.36 [{'connected_gene': 'CES2', 'score': 19.71}, {'connected_gene': 'ELMO3', 'score': 14.55}, {'connected_gene': 'CBFB', 'score': 11.33}, {'connected_gene': 'B3GNT9', 'score': 11.21}, {'connected_gene': 'FBXL8', 'score': 11.14}, {'connected_gene': 'TRADD', 'score': 11.14}, {'connected_gene': 'HSF4', 'score': 11.13}, {'connected_gene': 'C16orf70', 'score': 10.91}, {'connected_gene': 'RRAD', 'score': 10.75}, {'connected_gene': 'CDH16', 'score': 10.74}, {'connected_gene': 'MIR328', 'score': 10.64}, {'connected_gene': 'KIAA0895L', 'score': 10.38}, {'connected_gene': 'E2F4', 'score': 10.38}, {'connected_gene': 'EXOC3L1', 'score': 10.38}, {'connected_gene': 'TMEM208', 'score': 9.63}, {'connected_gene': 'LRRC29', 'score': 9.63}, {'connected_gene': 'CES4A', 'score': 0.39}, {'connected_gene': 'CES3', 'score': 0.37}]
chr16 GH16I067137 67137718 67137867 0.46 [{'connected_gene': 'TRADD', 'score': 11.96}, {'connected_gene': 'FBXL8', 'score': 11.96}, {'connected_gene': 'HSF4', 'score': 11.93}, {'connected_gene': 'NOL3', 'score': 11.47}, {'connected_gene': 'CBFB', 'score': 10.66}, {'connected_gene': 'KIAA0895L', 'score': 10.47}, {'connected_gene': 'EXOC3L1', 'score': 10.46}, {'connected_gene': 'E2F4', 'score': 10.46}, {'connected_gene': 'CES2', 'score': 10.37}, {'connected_gene': 'CDH16', 'score': 10.02}, {'connected_gene': 'RRAD', 'score': 10.02}, {'connected_gene': 'PIR51258', 'score': 0.39}, {'connected_gene': 'C16orf70', 'score': 0.31}]
chr16 GH16I067092 67092318 67092507 0.38 [{'connected_gene': 'CBFB', 'score': 12.07}, {'connected_gene': 'KIAA0895L', 'score': 10.49}, {'connected_gene': 'EXOC3L1', 'score': 10.49}, {'connected_gene': 'E2F4', 'score': 10.49}, {'connected_gene': 'MIR328', 'score': 10.4}, {'connected_gene': 'ELMO3', 'score': 10.4}, {'connected_gene': 'GC16P067102', 'score': 0.39}]
chr16 GH16I067027 67027987 67030995 2.27 [{'connected_gene': 'CBFB', 'score': 550.77}, {'connected_gene': 'ENSG00000260465', 'score': 18.14}, {'connected_gene': 'E2F4', 'score': 17.03}, {'connected_gene': 'CTCF', 'score': 14.8}, {'connected_gene': 'FBXL8', 'score': 13.05}, {'connected_gene': 'ENSG00000270165', 'score': 11.86}, {'connected_gene': 'C16orf70', 'score': 11.14}, {'connected_gene': 'EDC4', 'score': 11.09}, {'connected_gene': 'B3GNT9', 'score': 11.08}, {'connected_gene': 'RANBP10', 'score': 10.26}, {'connected_gene': 'ELMO3', 'score': 7.92}, {'connected_gene': 'ATP6V0D1', 'score': 4.59}, {'connected_gene': 'RIPOR1', 'score': 3.74}, {'connected_gene': 'GC16P067102', 'score': 0.19}]
chr16 GH16I067041 67041098 67041247 0.31 [{'connected_gene': 'CBFB', 'score': 0.39}, {'connected_gene': 'GC16P067102', 'score': 0.21}]
chr16 GH16I067052 67052570 67054767 0.79 [{'connected_gene': 'ELMO3', 'score': 16.72}, {'connected_gene': 'CBFB', 'score': 12.48}, {'connected_gene': 'C16orf70', 'score': 11.47}, {'connected_gene': 'MIR328', 'score': 10.53}, {'connected_gene': 'ATP6V0D1', 'score': 7.39}, {'connected_gene': 'ENSG00000260465', 'score': 5.68}, {'connected_gene': 'GC16P067102', 'score': 0.25}]
chr16 GH16I066924 66924769 66929174 2.38 [{'connected_gene': 'RRAD', 'score': 558.09}, {'connected_gene': 'LRRC29', 'score': 5.52}, {'connected_gene': 'ACD', 'score': 4.29}, {'connected_gene': 'PLEKHG4', 'score': 3.55}, {'connected_gene': 'CBFB', 'score': 2.06}, {'connected_gene': 'FHOD1', 'score': 2.01}, {'connected_gene': 'FAM96B', 'score': 0.44}]
chr16 GH16I066879 66879769 66881775 2.06 [{'connected_gene': 'PDP2', 'score': 550.77}, {'connected_gene': 'CES2', 'score': 24.24}, {'connected_gene': 'EDC4', 'score': 20.65}, {'connected_gene': 'CTCF', 'score': 16.53}, {'connected_gene': 'ENSG00000260465', 'score': 14.13}, {'connected_gene': 'CDH16', 'score': 12.08}, {'connected_gene': 'RRAD', 'score': 12.07}, {'connected_gene': 'NAE1', 'score': 11.67}, {'connected_gene': 'ZDHHC1', 'score': 11.63}, {'connected_gene': 'FAM96B', 'score': 11.25}, {'connected_gene': 'ACD', 'score': 11.07}, {'connected_gene': 'CENPT', 'score': 10.84}, {'connected_gene': 'CA7', 'score': 10.7}, {'connected_gene': 'E2F4', 'score': 10.48}, {'connected_gene': 'B3GNT9', 'score': 10.15}, {'connected_gene': 'THAP11', 'score': 10.14}, {'connected_gene': 'FBXL8', 'score': 10.1}, {'connected_gene': 'CBFB', 'score': 9.51}, {'connected_gene': 'CES3', 'score': 9.42}, {'connected_gene': 'TK2', 'score': 3.95}, {'connected_gene': 'GC16P066890', 'score': 0.44}]
chr16 GH16I066984 66984819 66985072 0.53 [{'connected_gene': 'FBXL8', 'score': 2.7}, {'connected_gene': 'CES4A', 'score': 2.55}, {'connected_gene': 'CMTM3', 'score': 1.84}, {'connected_gene': 'CBFB', 'score': 1.82}, {'connected_gene': 'TRADD', 'score': 1.71}, {'connected_gene': 'CKLF', 'score': 1.34}, {'connected_gene': 'CES3', 'score': 0.34}]
chr16 GH16I067417 67417668 67417963 0.48 [{'connected_gene': 'ZDHHC1', 'score': 550.77}, {'connected_gene': 'PLEKHG4', 'score': 3.7}, {'connected_gene': 'RRAD', 'score': 2.93}, {'connected_gene': 'RIPOR1', 'score': 1.73}, {'connected_gene': 'CBFB', 'score': 1.67}, {'connected_gene': 'FHOD1', 'score': 1.55}, {'connected_gene': 'HSD11B2', 'score': 0.39}]
chr16 GH16I067013 67013068 67015301 1.54 [{'connected_gene': 'EDC4', 'score': 20.33}, {'connected_gene': 'ACD', 'score': 12.71}, {'connected_gene': 'NAE1', 'score': 11.34}, {'connected_gene': 'CENPT', 'score': 10.84}, {'connected_gene': 'THAP11', 'score': 10.68}, {'connected_gene': 'CBFB', 'score': 5.39}, {'connected_gene': 'ATP6V0D1', 'score': 3.9}, {'connected_gene': 'RIPOR1', 'score': 3.73}, {'connected_gene': 'CES4A', 'score': 1.82}, {'connected_gene': 'FBXL8', 'score': 1.36}, {'connected_gene': 'ENSG00000280334', 'score': 0.77}, {'connected_gene': 'GC16P067020', 'score': 0.44}]
chr16 GH16I066967 66967523 66967582 0.5 [{'connected_gene': 'CES3', 'score': 550.44}, {'connected_gene': 'TRADD', 'score': 11.69}, {'connected_gene': 'FBXL8', 'score': 11.69}, {'connected_gene': 'HSF4', 'score': 11.69}, {'connected_gene': 'CES2', 'score': 11.63}, {'connected_gene': 'RRAD', 'score': 11.6}, {'connected_gene': 'CDH16', 'score': 11.58}, {'connected_gene': 'FAM96B', 'score': 11.48}, {'connected_gene': 'B3GNT9', 'score': 11.34}, {'connected_gene': 'CBFB', 'score': 11.31}, {'connected_gene': 'MIR328', 'score': 11.22}, {'connected_gene': 'ELMO3', 'score': 11.22}, {'connected_gene': 'KIAA0895L', 'score': 11.15}, {'connected_gene': 'EXOC3L1', 'score': 11.15}, {'connected_gene': 'E2F4', 'score': 11.15}, {'connected_gene': 'C16orf70', 'score': 10.62}, {'connected_gene': 'CES4A', 'score': 0.34}]
chr16 GH16I066961 66961801 66962200 0.46 [{'connected_gene': 'CES3', 'score': 550.77}, {'connected_gene': 'FBXL8', 'score': 11.69}, {'connected_gene': 'TRADD', 'score': 11.69}, {'connected_gene': 'HSF4', 'score': 11.69}, {'connected_gene': 'CES2', 'score': 11.65}, {'connected_gene': 'RRAD', 'score': 11.61}, {'connected_gene': 'CDH16', 'score': 11.6}, {'connected_gene': 'FAM96B', 'score': 11.5}, {'connected_gene': 'B3GNT9', 'score': 11.34}, {'connected_gene': 'CBFB', 'score': 11.31}, {'connected_gene': 'MIR328', 'score': 11.22}, {'connected_gene': 'ELMO3', 'score': 11.22}, {'connected_gene': 'EXOC3L1', 'score': 11.15}, {'connected_gene': 'KIAA0895L', 'score': 11.15}, {'connected_gene': 'E2F4', 'score': 11.15}, {'connected_gene': 'C16orf70', 'score': 10.62}, {'connected_gene': 'ENSG00000265408', 'score': 0.37}, {'connected_gene': 'CES4A', 'score': 0.31}]
chr16 GH16I066960 66960618 66961622 1.62 [{'connected_gene': 'CES3', 'score': 550.77}, {'connected_gene': 'FBXL8', 'score': 11.69}, {'connected_gene': 'TRADD', 'score': 11.69}, {'connected_gene': 'HSF4', 'score': 11.69}, {'connected_gene': 'CES2', 'score': 11.65}, {'connected_gene': 'RRAD', 'score': 11.61}, {'connected_gene': 'CDH16', 'score': 11.6}, {'connected_gene': 'FAM96B', 'score': 11.5}, {'connected_gene': 'B3GNT9', 'score': 11.34}, {'connected_gene': 'CBFB', 'score': 11.31}, {'connected_gene': 'MIR328', 'score': 11.22}, {'connected_gene': 'ELMO3', 'score': 11.22}, {'connected_gene': 'EXOC3L1', 'score': 11.15}, {'connected_gene': 'KIAA0895L', 'score': 11.15}, {'connected_gene': 'E2F4', 'score': 11.15}, {'connected_gene': 'C16orf70', 'score': 10.62}, {'connected_gene': 'GC16M066947', 'score': 0.77}, {'connected_gene': 'ENSG00000265408', 'score': 0.37}]
chr16 GH16I067017 67017800 67018401 1.38 [{'connected_gene': 'GC16P067020', 'score': 550.77}, {'connected_gene': 'RN7SL543P', 'score': 550.77}, {'connected_gene': 'ELMO3', 'score': 8.87}, {'connected_gene': 'ENSG00000260465', 'score': 5.68}, {'connected_gene': 'CBFB', 'score': 5.37}, {'connected_gene': 'ENSG00000280334', 'score': 0.44}]

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