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
ENST00000422424 [[66965958, 66966203], [66966682, 66966728], [66967516, 66967642], [66967889, 66967969], [66968125, 66968303]] [[66966105, 66966203], [66966682, 66966728], [66967516, 66967642], [66967889, 66967969], [66968125, 66968267]]
ENST00000568572 [[66965967, 66966104], [66966174, 66966203], [66966682, 66966728], [66967516, 66967642], [66967889, 66967969], [66968125, 66968153]] [[66966092, 66966104], [66966174, 66966203], [66966682, 66966728], [66967516, 66967642], [66967889, 66967969], [66968125, 66968153]]
ENST00000562362 [[66965968, 66966203], [66966682, 66966728], [66967516, 66967642], [66967889, 66968069], [66968159, 66968285]] [[66968066, 66968069], [66968159, 66968267]]
ENST00000567511 [[66965969, 66966203], [66966383, 66966453], [66966682, 66966728], [66967516, 66967642], [66967889, 66967969], [66968125, 66968265]] [[66966181, 66966203], [66966383, 66966453], [66966682, 66966728], [66967516, 66967642], [66967889, 66967969], [66968125, 66968265]]
ENST00000563490 [[66966088, 66966203], [66966682, 66966728], [66967516, 66967642], [66967889, 66968320]] None
ENST00000569299 [[66967371, 66967642], [66967889, 66968326]] None
NR_024525 [[66965957, 66966203], [66966682, 66966728], [66967516, 66967642], [66967889, 66968326]] None
NM_016062 [[66965957, 66966203], [66966682, 66966728], [66967516, 66967642], [66967889, 66967969], [66968125, 66968326]] [[66966105, 66966203], [66966682, 66966728], [66967516, 66967642], [66967889, 66967969], [66968125, 66968267]]
NR_046109 [[66965957, 66966203], [66966682, 66966728], [66967516, 66967642], [66967889, 66968069], [66968159, 66968326]] None
Promoter
Chrom Start End Description
chr16 66968055 66968079 CAGE_peak_3_at_FAM96B_5end
chr16 66968272 66968323 CAGE_peak_1_at_FAM96B_5end
chr16 66968326 66968337 CAGE_peak_2_at_FAM96B_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 GH16I066902 66902498 66906583 1.98 [{'connected_gene': 'CES2', 'score': 24.81}, {'connected_gene': 'KIAA0895L', 'score': 21.58}, {'connected_gene': 'E2F4', 'score': 20.35}, {'connected_gene': 'NAE1', 'score': 18.67}, {'connected_gene': 'RRAD', 'score': 15.37}, {'connected_gene': 'FAM96B', 'score': 12.11}, {'connected_gene': 'EDC4', 'score': 12.01}, {'connected_gene': 'CENPT', 'score': 11.33}, {'connected_gene': 'CTCF', 'score': 11.02}, {'connected_gene': 'EXOC3L1', 'score': 9.96}, {'connected_gene': 'C16orf70', 'score': 9.85}, {'connected_gene': 'CES3', 'score': 9.5}, {'connected_gene': 'LINC00920', 'score': 6.03}, {'connected_gene': 'ELMO3', 'score': 5.94}, {'connected_gene': 'BEAN1', 'score': 4.82}, {'connected_gene': 'NOL3', 'score': 1.61}, {'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': 0.37}]
chr16 GH16I066932 66932798 66937804 2.28 [{'connected_gene': 'CES2', 'score': 560.52}, {'connected_gene': 'FAM96B', 'score': 550.77}, {'connected_gene': 'NAE1', 'score': 16.61}, {'connected_gene': 'CES3', 'score': 11.84}, {'connected_gene': 'ENSG00000265408', 'score': 0.44}]
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 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 GH16I066877 66877801 66878400 0.94 [{'connected_gene': 'PDP2', 'score': 550.77}, {'connected_gene': 'CA7', 'score': 11.9}, {'connected_gene': 'CES2', 'score': 11.32}, {'connected_gene': 'FAM96B', 'score': 10.89}, {'connected_gene': 'NAE1', 'score': 0.77}]
chr16 GH16I067841 67841264 67848714 2.12 [{'connected_gene': 'THAP11', 'score': 568.89}, {'connected_gene': 'NUTF2', 'score': 550.77}, {'connected_gene': 'ZDHHC1', 'score': 39.59}, {'connected_gene': 'ENKD1', 'score': 29.28}, {'connected_gene': 'NAE1', 'score': 28.36}, {'connected_gene': 'EDC4', 'score': 21.74}, {'connected_gene': 'RANBP10', 'score': 21.3}, {'connected_gene': 'ZFP90', 'score': 20.83}, {'connected_gene': 'CTCF', 'score': 19.79}, {'connected_gene': 'ENSG00000262514', 'score': 12.11}, {'connected_gene': 'ENSG00000263276', 'score': 11.79}, {'connected_gene': 'DUS2', 'score': 11.17}, {'connected_gene': 'ACD', 'score': 11.13}, {'connected_gene': 'CENPT', 'score': 10.74}, {'connected_gene': 'NFATC3', 'score': 10.5}, {'connected_gene': 'SLC7A6OS', 'score': 10.09}, {'connected_gene': 'FBXL8', 'score': 9.8}, {'connected_gene': 'PRMT7', 'score': 9.77}, {'connected_gene': 'DPEP2', 'score': 7.3}, {'connected_gene': 'HSD11B2', 'score': 4.78}, {'connected_gene': 'FAM96B', 'score': 4.55}, {'connected_gene': 'GC16P067843', 'score': 0.77}]
chr16 GH16I066929 66929818 66930993 1.24 [{'connected_gene': 'FAM96B', 'score': 0.77}, {'connected_gene': 'RRAD', 'score': 0.77}]
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}]

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