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
ENST00000345057 [[67188082, 67188862], [67188998, 67189197], [67189279, 67189557], [67190412, 67190571], [67193740, 67194201]] [[67188551, 67188862], [67188998, 67189197], [67189279, 67189557], [67190412, 67190563]]
ENST00000486556 [[67188101, 67188862], [67188998, 67189197], [67189279, 67190152]] [[67188551, 67188862], [67188998, 67189197], [67189279, 67189528]]
ENST00000566247 [[67188735, 67188862], [67188998, 67189321]] None
ENST00000563348 [[67189441, 67190102], [67190412, 67190584]] None
ENST00000566104 [[67189653, 67190102], [67190412, 67190571], [67193740, 67193801]] None
NM_001323552 [[67188087, 67188862], [67188998, 67189197], [67189279, 67189557], [67190412, 67190571], [67193727, 67193812]] [[67188551, 67188862], [67188998, 67189197], [67189279, 67189557], [67190412, 67190563]]
NM_003789 [[67188087, 67188862], [67188998, 67189197], [67189279, 67189557], [67190412, 67190571], [67193740, 67193812]] [[67188551, 67188862], [67188998, 67189197], [67189279, 67189557], [67190412, 67190563]]
Promoter
Chrom Start End Description
chr16 67193784 67193829 CAGE_peak_1_at_TRADD_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
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 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 GH16I066899 66899049 66902405 1.44 [{'connected_gene': 'CES2', 'score': 25.79}, {'connected_gene': 'CTCF', 'score': 21.84}, {'connected_gene': 'E2F4', 'score': 21.65}, {'connected_gene': 'FBXL8', 'score': 20.89}, {'connected_gene': 'TRADD', 'score': 20.84}, {'connected_gene': 'ZDHHC1', 'score': 17.24}, {'connected_gene': 'ENSG00000260465', 'score': 15.34}, {'connected_gene': 'RRAD', 'score': 13.38}, {'connected_gene': 'FAM96B', 'score': 12.09}, {'connected_gene': 'ENKD1', 'score': 11.9}, {'connected_gene': 'NAE1', 'score': 11.26}, {'connected_gene': 'CENPT', 'score': 11.21}, {'connected_gene': 'LINC00920', 'score': 11.1}, {'connected_gene': 'HSF4', 'score': 11.03}, {'connected_gene': 'PLEKHG4', 'score': 10.71}, {'connected_gene': 'EDC4', 'score': 10.37}, {'connected_gene': 'EXOC3L1', 'score': 9.96}, {'connected_gene': 'KIAA0895L', 'score': 9.95}, {'connected_gene': 'C16orf70', 'score': 9.85}, {'connected_gene': 'CES3', 'score': 9.35}, {'connected_gene': 'GC16P066910', 'score': 0.44}, {'connected_gene': 'GC16P066912', 'score': 0.44}, {'connected_gene': 'PIR47501', 'score': 0.44}, {'connected_gene': 'GC16P066911', 'score': 0.44}, {'connected_gene': 'GC16P066890', 'score': 0.39}]
chr16 GH16I066895 66895913 66897506 0.49 [{'connected_gene': 'CES2', 'score': 24.82}, {'connected_gene': 'CDH16', 'score': 12.67}, {'connected_gene': 'RRAD', 'score': 12.64}, {'connected_gene': 'FAM96B', 'score': 11.61}, {'connected_gene': 'TRADD', 'score': 10.89}, {'connected_gene': 'FBXL8', 'score': 10.89}, {'connected_gene': 'HSF4', 'score': 10.89}, {'connected_gene': 'GC16P066890', 'score': 0.44}, {'connected_gene': 'GC16P066910', 'score': 0.39}, {'connected_gene': 'GC16P066912', 'score': 0.39}, {'connected_gene': 'GC16P066911', 'score': 0.39}, {'connected_gene': 'PIR47501', 'score': 0.39}]
chr16 GH16I066894 66894798 66895668 1.07 [{'connected_gene': 'CES2', 'score': 24.79}, {'connected_gene': 'CDH16', 'score': 18.4}, {'connected_gene': 'RRAD', 'score': 12.62}, {'connected_gene': 'FAM96B', 'score': 11.61}, {'connected_gene': 'FBXL8', 'score': 10.89}, {'connected_gene': 'HSF4', 'score': 10.89}, {'connected_gene': 'TRADD', 'score': 10.89}, {'connected_gene': 'GC16P066890', 'score': 0.44}, {'connected_gene': 'GC16P066910', 'score': 0.39}, {'connected_gene': 'GC16P066912', 'score': 0.39}, {'connected_gene': 'GC16P066911', 'score': 0.39}, {'connected_gene': 'PIR47501', 'score': 0.39}, {'connected_gene': 'PDP2', '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 GH16I066515 66515002 66527445 1.83 [{'connected_gene': 'TK2', 'score': 31.23}, {'connected_gene': 'CKLF', 'score': 29.03}, {'connected_gene': 'ENSG00000260465', 'score': 25.76}, {'connected_gene': 'ZDHHC1', 'score': 25.27}, {'connected_gene': 'NAE1', 'score': 24.02}, {'connected_gene': 'BEAN1', 'score': 22.31}, {'connected_gene': 'CKLF-CMTM1', 'score': 13.28}, {'connected_gene': 'E2F4', 'score': 11.73}, {'connected_gene': 'CMTM2', 'score': 11.48}, {'connected_gene': 'PLEKHG4', 'score': 10.68}, {'connected_gene': 'FBXL8', 'score': 9.89}, {'connected_gene': 'TRADD', 'score': 9.83}, {'connected_gene': 'LINC00920', 'score': 6.3}, {'connected_gene': 'CMTM1', 'score': 1.32}, {'connected_gene': 'ENSG00000260851', 'score': 0.77}, {'connected_gene': 'ENSG00000261519', 'score': 0.31}]
chr16 GH16I066547 66547754 66554347 2.3 [{'connected_gene': 'TK2', 'score': 579.97}, {'connected_gene': 'ENSG00000261519', 'score': 550.77}, {'connected_gene': 'CKLF-CMTM1', 'score': 550.77}, {'connected_gene': 'PIR51465', 'score': 550.77}, {'connected_gene': 'PIR54425', 'score': 550.77}, {'connected_gene': 'CKLF', 'score': 550.77}, {'connected_gene': 'ENSG00000275745', 'score': 550.77}, {'connected_gene': 'NAE1', 'score': 45.15}, {'connected_gene': 'ZDHHC1', 'score': 40.42}, {'connected_gene': 'BEAN1', 'score': 25.09}, {'connected_gene': 'PLEKHG4', 'score': 21.49}, {'connected_gene': 'ENSG00000260465', 'score': 19.69}, {'connected_gene': 'BEAN1-AS1', 'score': 18.47}, {'connected_gene': 'FBXL8', 'score': 18.33}, {'connected_gene': 'KIAA0895L', 'score': 14.35}, {'connected_gene': 'CMTM2', 'score': 11.56}, {'connected_gene': 'TRADD', 'score': 10.08}, {'connected_gene': 'PIR36312', 'score': 0.77}, {'connected_gene': 'GC16M066555', 'score': 0.77}]
chr16 GH16I067157 67157138 67161742 2.23 [{'connected_gene': 'FBXL8', 'score': 560.81}, {'connected_gene': 'TRADD', 'score': 550.77}, {'connected_gene': 'ENSG00000260465', 'score': 18.07}, {'connected_gene': 'CTCF', 'score': 16.55}, {'connected_gene': 'ZDHHC1', 'score': 11.67}, {'connected_gene': 'SLC12A4', 'score': 10.56}, {'connected_gene': 'ELMO3', 'score': 10.48}, {'connected_gene': 'THAP11', 'score': 10.14}, {'connected_gene': 'LRRC36', 'score': 3.99}, {'connected_gene': 'B3GNT9', '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 GH16I067154 67154427 67156351 1.1 [{'connected_gene': 'LRRC36', 'score': 9.75}, {'connected_gene': 'ENSG00000260465', 'score': 4.61}, {'connected_gene': 'TRADD', 'score': 0.77}, {'connected_gene': 'FBXL8', 'score': 0.77}, {'connected_gene': 'B3GNT9', 'score': 0.77}]
chr16 GH16I068077 68077704 68093658 2.8 [{'connected_gene': 'NFATC3', 'score': 560.39}, {'connected_gene': 'GC16M068083', 'score': 550.77}, {'connected_gene': 'PRMT7', 'score': 23.44}, {'connected_gene': 'CTCF', 'score': 20.8}, {'connected_gene': 'EDC4', 'score': 20.32}, {'connected_gene': 'TRADD', 'score': 18.05}, {'connected_gene': 'ZDHHC1', 'score': 17.91}, {'connected_gene': 'DPEP2', 'score': 15.43}, {'connected_gene': 'DUS2', 'score': 13.4}, {'connected_gene': 'E2F4', 'score': 11.72}, {'connected_gene': 'SLC7A6OS', 'score': 11.19}, {'connected_gene': 'ENSG00000212445', 'score': 10.78}, {'connected_gene': 'PLEKHG4', 'score': 10.68}, {'connected_gene': 'SLC7A6', 'score': 10.47}, {'connected_gene': 'DPEP3', 'score': 10.11}, {'connected_gene': 'ENKD1', 'score': 10.04}, {'connected_gene': 'CENPT', 'score': 10.04}, {'connected_gene': 'THAP11', 'score': 9.94}, {'connected_gene': 'PSKH1', 'score': 9.92}, {'connected_gene': 'PARD6A', 'score': 9.74}, {'connected_gene': 'ACD', 'score': 9.74}, {'connected_gene': 'TSNAXIP1', 'score': 5.71}, {'connected_gene': 'FHOD1', 'score': 4.86}, {'connected_gene': 'RANBP10', 'score': 3.91}, {'connected_gene': 'PSMB10', 'score': 3.3}, {'connected_gene': 'CARMIL2', 'score': 1.27}, {'connected_gene': 'ENSG00000201850', 'score': 0.77}, {'connected_gene': 'GC16M068090', 'score': 0.77}, {'connected_gene': 'ENSG00000261864', '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 GH16I066603 66603061 66606687 2.04 [{'connected_gene': 'CMTM3', 'score': 558.27}, {'connected_gene': 'TK2', 'score': 19.54}, {'connected_gene': 'BEAN1', 'score': 18.97}, {'connected_gene': 'ZDHHC1', 'score': 17.23}, {'connected_gene': 'ENSG00000260465', 'score': 15.37}, {'connected_gene': 'CTCF', 'score': 12.21}, {'connected_gene': 'NAE1', 'score': 11.02}, {'connected_gene': 'TRADD', 'score': 9.91}, {'connected_gene': 'FBXL8', 'score': 9.89}, {'connected_gene': 'CES2', 'score': 8.13}, {'connected_gene': 'CMTM4', 'score': 4.5}, {'connected_gene': 'PIR36038', 'score': 0.39}, {'connected_gene': 'GC16M066618', 'score': 0.39}]

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