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
ENST00000252137 [[19117791, 19121988], [19122572, 19122688], [19124835, 19124945], [19125727, 19125830], [19126671, 19126805], [19127124, 19127242], [19127367, 19127537], [19130050, 19130146], [19130238, 19130407], [19132018, 19132197]] [[19121708, 19121988], [19122572, 19122688], [19124835, 19124945], [19125727, 19125830], [19126671, 19126805], [19127124, 19127242], [19127367, 19127537], [19130050, 19130146], [19130238, 19130407], [19132018, 19132153]]
ENST00000434568 [[19121449, 19121988], [19122572, 19122688], [19124835, 19124945], [19125815, 19125992], [19126671, 19126805], [19127124, 19127242], [19127367, 19127537], [19130050, 19130146], [19130238, 19130407], [19132018, 19132197]] [[19125932, 19125992], [19126671, 19126805], [19127124, 19127242], [19127367, 19127537], [19130050, 19130146], [19130238, 19130407], [19132018, 19132153]]
ENST00000472073 [[19121480, 19121988], [19122572, 19122688], [19124835, 19124945], [19125727, 19125830], [19126671, 19126805], [19127124, 19127242], [19127367, 19127537], [19130050, 19130146], [19130238, 19130407], [19131569, 19132146]] None
ENST00000469466 [[19130362, 19130407], [19131636, 19132172]] None
Promoter
Chrom Start End Description
chr22 19132154 19132199 CAGE_peak_1_at_DGCR14_5end
chr22 19132209 19132218 CAGE_peak_2_at_DGCR14_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr22 GH22I019107 19107952 19112833 1.46 [{'connected_gene': 'DGCR2', 'score': 42.17}, {'connected_gene': 'DGCR11', 'score': 29.62}, {'connected_gene': 'ESS2', 'score': 22.59}, {'connected_gene': 'UFD1', 'score': 21.44}, {'connected_gene': 'RPL7AP70', 'score': 21.3}, {'connected_gene': 'DGCR8', 'score': 13.4}, {'connected_gene': 'E2F6P1', 'score': 12.82}, {'connected_gene': 'GSC2', 'score': 12.46}, {'connected_gene': 'TBX1', 'score': 11.12}, {'connected_gene': 'PIR39211', 'score': 0.44}, {'connected_gene': 'ENSG00000223461', 'score': 0.39}]
chr22 GH22I019069 19069679 19070873 0.59 [{'connected_gene': 'DGCR2', 'score': 53.3}, {'connected_gene': 'TSSK1A', 'score': 11.67}, {'connected_gene': 'ENSG00000223461', 'score': 11.67}, {'connected_gene': 'TSSK2', 'score': 11.65}, {'connected_gene': 'ESS2', 'score': 11.06}, {'connected_gene': 'DGCR5', 'score': 4.65}, {'connected_gene': 'GC22M019063', 'score': 0.44}, {'connected_gene': 'GC22P019229', 'score': 0.39}]
chr22 GH22I019072 19072982 19074928 0.6 [{'connected_gene': 'DGCR2', 'score': 48.34}, {'connected_gene': 'ENSG00000223461', 'score': 11.69}, {'connected_gene': 'TSSK1A', 'score': 11.67}, {'connected_gene': 'TSSK2', 'score': 11.66}, {'connected_gene': 'ESS2', 'score': 11.06}, {'connected_gene': 'DGCR11', 'score': 9.92}, {'connected_gene': 'CA15P1', 'score': 6.54}, {'connected_gene': 'GC22P019229', 'score': 0.39}, {'connected_gene': 'GC22M019063', 'score': 0.39}]
chr22 GH22I019071 19071695 19072870 0.38 [{'connected_gene': 'DGCR2', 'score': 34.54}, {'connected_gene': 'ENSG00000223461', 'score': 11.69}, {'connected_gene': 'TSSK1A', 'score': 11.67}, {'connected_gene': 'TSSK2', 'score': 11.66}, {'connected_gene': 'ESS2', 'score': 11.06}, {'connected_gene': 'DGCR11', 'score': 7.65}, {'connected_gene': 'GC22M019063', 'score': 0.44}, {'connected_gene': 'GC22P019229', 'score': 0.39}]
chr22 GH22I019143 19143430 19145377 2.06 [{'connected_gene': 'ESS2', 'score': 573.93}, {'connected_gene': 'DGCR8', 'score': 24.09}, {'connected_gene': 'TRMT2A', 'score': 23.83}, {'connected_gene': 'RPL8P5', 'score': 20.06}, {'connected_gene': 'RPL7AP70', 'score': 19.84}, {'connected_gene': 'ENSG00000273300', 'score': 14.75}, {'connected_gene': 'LINC01311', 'score': 12.33}, {'connected_gene': 'ENSG00000223461', 'score': 12.05}, {'connected_gene': 'DGCR2', 'score': 12.05}, {'connected_gene': 'UFD1', 'score': 11.72}, {'connected_gene': 'GC22P019233', 'score': 0.39}, {'connected_gene': 'GC22P019228', 'score': 0.39}]
chr22 GH22I019289 19289300 19293053 2.49 [{'connected_gene': 'CLTCL1', 'score': 572.95}, {'connected_gene': 'LOC105372859', 'score': 550.77}, {'connected_gene': 'SLC25A1', 'score': 10.91}, {'connected_gene': 'TRMT2A', 'score': 10.43}, {'connected_gene': 'ESS2', 'score': 10.37}, {'connected_gene': 'LINC01311', 'score': 10.31}, {'connected_gene': 'GC22M019285', 'score': 0.44}]
chr22 GH22I019477 19477337 19481163 2.29 [{'connected_gene': 'UFD1', 'score': 607.1}, {'connected_gene': 'CDC45', 'score': 550.77}, {'connected_gene': 'DGCR8', 'score': 45.33}, {'connected_gene': 'TRMT2A', 'score': 44.12}, {'connected_gene': 'RPL7AP70', 'score': 43.51}, {'connected_gene': 'DGCR11', 'score': 41.18}, {'connected_gene': 'ENSG00000273300', 'score': 34.41}, {'connected_gene': 'RPL8P5', 'score': 21.4}, {'connected_gene': 'LINC01311', 'score': 19.53}, {'connected_gene': 'RANBP1', 'score': 19.36}, {'connected_gene': 'LOC100420177', 'score': 13.69}, {'connected_gene': 'ZDHHC8', 'score': 13.49}, {'connected_gene': 'LOC105372860', 'score': 12.45}, {'connected_gene': 'CLTCL1', 'score': 11.23}, {'connected_gene': 'ESS2', 'score': 10.17}, {'connected_gene': 'ENSG00000273212', 'score': 0.34}]
chr22 GH22I019418 19418015 19424192 1.73 [{'connected_gene': 'UFD1', 'score': 46.48}, {'connected_gene': 'TRMT2A', 'score': 37.33}, {'connected_gene': 'DGCR8', 'score': 35.63}, {'connected_gene': 'RPL7AP70', 'score': 31.21}, {'connected_gene': 'DGCR11', 'score': 21.83}, {'connected_gene': 'RPL8P5', 'score': 20.08}, {'connected_gene': 'ENSG00000273300', 'score': 14.99}, {'connected_gene': 'LINC01311', 'score': 12.08}, {'connected_gene': 'RANBP1', 'score': 10.48}, {'connected_gene': 'ESS2', 'score': 10.18}, {'connected_gene': 'CLTCL1', 'score': 8.77}, {'connected_gene': 'HIRA', 'score': 1.79}, {'connected_gene': 'MRPL40', 'score': 0.39}, {'connected_gene': 'C22orf39', 'score': 0.31}, {'connected_gene': 'RN7SL168P', 'score': 0.22}]
chr22 GH22I019909 19909411 19910542 1.41 [{'connected_gene': 'RPL7AP70', 'score': 39.51}, {'connected_gene': 'ENSG00000273300', 'score': 36.7}, {'connected_gene': 'TRMT2A', 'score': 35.05}, {'connected_gene': 'MED15', 'score': 24.2}, {'connected_gene': 'DGCR8', 'score': 21.12}, {'connected_gene': 'RPL8P5', 'score': 20.5}, {'connected_gene': 'DGCR11', 'score': 13.62}, {'connected_gene': 'SCARF2', 'score': 12.21}, {'connected_gene': 'ABHD17AP4', 'score': 11.71}, {'connected_gene': 'UFD1', 'score': 11.7}, {'connected_gene': 'ESS2', 'score': 11.47}, {'connected_gene': 'RANBP1', 'score': 10.44}, {'connected_gene': 'COMT', 'score': 5.1}, {'connected_gene': 'PIR37139', 'score': 0.31}, {'connected_gene': 'TXNRD2', 'score': 0.29}]
chr22 GH22I019169 19169089 19180296 2.51 [{'connected_gene': 'SLC25A1', 'score': 592.36}, {'connected_gene': 'CLTCL1', 'score': 19.87}, {'connected_gene': 'GSC2', 'score': 14.0}, {'connected_gene': 'ESS2', 'score': 13.97}, {'connected_gene': 'TSSK2', 'score': 11.98}, {'connected_gene': 'TSSK1A', 'score': 11.97}, {'connected_gene': 'ENSG00000223461', 'score': 11.95}, {'connected_gene': 'DGCR2', 'score': 11.95}, {'connected_gene': 'UFD1', 'score': 11.72}, {'connected_gene': 'RPL7AP70', 'score': 9.88}, {'connected_gene': 'LINC01311', 'score': 0.77}]
chr22 GH22I019429 19429413 19434134 2.33 [{'connected_gene': 'MRPL40', 'score': 559.28}, {'connected_gene': 'HIRA', 'score': 550.37}, {'connected_gene': 'UFD1', 'score': 34.74}, {'connected_gene': 'LINC01311', 'score': 21.39}, {'connected_gene': 'TRMT2A', 'score': 20.68}, {'connected_gene': 'RPL7AP70', 'score': 19.87}, {'connected_gene': 'DGCR8', 'score': 18.5}, {'connected_gene': 'ENSG00000273300', 'score': 15.03}, {'connected_gene': 'RTL10', 'score': 11.79}, {'connected_gene': 'RPL8P5', 'score': 10.98}, {'connected_gene': 'ENSG00000273343', 'score': 10.49}, {'connected_gene': 'ESS2', 'score': 10.32}, {'connected_gene': 'CLTCL1', 'score': 10.09}, {'connected_gene': 'ZNF74', 'score': 10.08}, {'connected_gene': 'C22orf39', 'score': 0.37}, {'connected_gene': 'RN7SL168P', 'score': 0.2}]
chr22 GH22I018937 18937464 18937983 0.31 [{'connected_gene': 'PRODH', 'score': 559.33}, {'connected_gene': 'ENSG00000284294', 'score': 550.77}, {'connected_gene': 'ESS2', 'score': 5.67}, {'connected_gene': 'GC22P018966', 'score': 0.44}, {'connected_gene': 'ENSG00000283809', 'score': 0.29}]
chr22 GH22I019579 19579001 19580643 1.13 [{'connected_gene': 'DGCR8', 'score': 25.99}, {'connected_gene': 'TRMT2A', 'score': 24.41}, {'connected_gene': 'CLDN5', 'score': 14.67}, {'connected_gene': 'MED15', 'score': 11.89}, {'connected_gene': 'DGCR11', 'score': 11.59}, {'connected_gene': 'UFD1', 'score': 10.59}, {'connected_gene': 'CDC45', 'score': 10.59}, {'connected_gene': 'RANBP1', 'score': 10.49}, {'connected_gene': 'LINC01311', 'score': 10.43}, {'connected_gene': 'LOC100420177', 'score': 10.26}, {'connected_gene': 'ESS2', 'score': 10.16}, {'connected_gene': 'E2F6P1', 'score': 9.97}, {'connected_gene': 'ZDHHC8', 'score': 9.88}, {'connected_gene': 'LINC00895', 'score': 0.39}, {'connected_gene': 'GC22P019632', 'score': 0.23}]
chr22 GH22I019994 19994901 20001527 1.31 [{'connected_gene': 'ARVCF', 'score': 16.79}, {'connected_gene': 'TRMT2A', 'score': 15.5}, {'connected_gene': 'DGCR8', 'score': 13.55}, {'connected_gene': 'MED15', 'score': 11.91}, {'connected_gene': 'ABHD17AP4', 'score': 11.71}, {'connected_gene': 'UFD1', 'score': 11.69}, {'connected_gene': 'DGCR11', 'score': 11.59}, {'connected_gene': 'LZTR1', 'score': 10.77}, {'connected_gene': 'RANBP1', 'score': 10.59}, {'connected_gene': 'ESS2', 'score': 10.14}, {'connected_gene': 'RPL7AP70', 'score': 9.93}, {'connected_gene': 'COMT', 'score': 5.94}, {'connected_gene': 'GC22M019988', 'score': 0.39}]
chr22 GH22I020114 20114959 20119532 2.32 [{'connected_gene': 'TRMT2A', 'score': 581.22}, {'connected_gene': 'RANBP1', 'score': 561.23}, {'connected_gene': 'MED15', 'score': 37.69}, {'connected_gene': 'RPL7AP70', 'score': 28.93}, {'connected_gene': 'LZTR1', 'score': 28.54}, {'connected_gene': 'ZDHHC8', 'score': 21.61}, {'connected_gene': 'UFD1', 'score': 19.85}, {'connected_gene': 'DGCR8', 'score': 13.65}, {'connected_gene': 'SCARF2', 'score': 13.58}, {'connected_gene': 'THAP7', 'score': 11.21}, {'connected_gene': 'LOC100420177', 'score': 11.02}, {'connected_gene': 'THAP7-AS1', 'score': 10.69}, {'connected_gene': 'ENSG00000273300', 'score': 10.61}, {'connected_gene': 'ESS2', 'score': 10.14}, {'connected_gene': 'CCDC188', 'score': 9.7}, {'connected_gene': 'ARVCF', 'score': 4.55}]
chr22 GH22I019629 19629998 19630187 0.95 [{'connected_gene': 'TRMT2A', 'score': 25.59}, {'connected_gene': 'DGCR8', 'score': 22.19}, {'connected_gene': 'MED15', 'score': 21.41}, {'connected_gene': 'ENSG00000273300', 'score': 14.79}, {'connected_gene': 'CLDN5', 'score': 12.14}, {'connected_gene': 'UFD1', 'score': 12.08}, {'connected_gene': 'CDC45', 'score': 12.08}, {'connected_gene': 'RPL7AP70', 'score': 11.76}, {'connected_gene': 'DGCR11', 'score': 11.59}, {'connected_gene': 'RPL8P5', 'score': 11.0}, {'connected_gene': 'RANBP1', 'score': 10.5}, {'connected_gene': 'ESS2', 'score': 10.16}, {'connected_gene': 'GC22P019632', 'score': 0.77}, {'connected_gene': 'LINC00895', 'score': 0.21}]
chr22 GH22I019131 19131259 19131318 0.73 [{'connected_gene': 'TSSK2', 'score': 550.77}, {'connected_gene': 'GC22P019233', 'score': 0.77}, {'connected_gene': 'GC22P019228', 'score': 0.77}, {'connected_gene': 'ESS2', 'score': 0.39}]
chr22 GH22I019937 19937489 19938799 0.98 [{'connected_gene': 'COMT', 'score': 15.27}, {'connected_gene': 'TRMT2A', 'score': 14.26}, {'connected_gene': 'ESS2', 'score': 11.47}, {'connected_gene': 'RANBP1', 'score': 10.45}, {'connected_gene': 'ARVCF', 'score': 6.86}, {'connected_gene': 'PIR37139', 'score': 0.77}, {'connected_gene': 'TXNRD2', 'score': 0.77}]
chr22 GH22I020084 20084198 20085647 1.17 [{'connected_gene': 'MIR3618', 'score': 550.77}, {'connected_gene': 'MIR1306', 'score': 550.77}, {'connected_gene': 'DGCR8', 'score': 54.24}, {'connected_gene': 'TRMT2A', 'score': 46.35}, {'connected_gene': 'LZTR1', 'score': 44.78}, {'connected_gene': 'MED15', 'score': 35.28}, {'connected_gene': 'LINC01311', 'score': 34.53}, {'connected_gene': 'LOC100420177', 'score': 32.73}, {'connected_gene': 'RPL7AP70', 'score': 31.22}, {'connected_gene': 'UFD1', 'score': 21.42}, {'connected_gene': 'RPL8P5', 'score': 20.12}, {'connected_gene': 'ENSG00000273300', 'score': 14.72}, {'connected_gene': 'KLHL22', 'score': 12.76}, {'connected_gene': 'THAP7', 'score': 11.21}, {'connected_gene': 'RANBP1', 'score': 10.75}, {'connected_gene': 'ENSG00000273343', 'score': 10.54}, {'connected_gene': 'ESS2', 'score': 10.14}, {'connected_gene': 'ZNF74', 'score': 10.12}, {'connected_gene': 'ZDHHC8', 'score': 7.22}, {'connected_gene': 'CCDC188', 'score': 5.31}]
chr22 GH22I019184 19184392 19185993 0.6 [{'connected_gene': 'PIR41749', 'score': 550.77}, {'connected_gene': 'SLC25A1', 'score': 42.07}, {'connected_gene': 'CLTCL1', 'score': 19.83}, {'connected_gene': 'ESS2', 'score': 11.62}]
chr22 GH22I019985 19985785 19987882 1.65 [{'connected_gene': 'GC22M019988', 'score': 550.77}, {'connected_gene': 'TRMT2A', 'score': 37.42}, {'connected_gene': 'DGCR8', 'score': 35.76}, {'connected_gene': 'LZTR1', 'score': 35.19}, {'connected_gene': 'MED15', 'score': 21.41}, {'connected_gene': 'RPL8P5', 'score': 20.19}, {'connected_gene': 'ARVCF', 'score': 16.25}, {'connected_gene': 'ENSG00000273300', 'score': 14.72}, {'connected_gene': 'LOC100420177', 'score': 14.31}, {'connected_gene': 'LINC01311', 'score': 12.04}, {'connected_gene': 'RPL7AP70', 'score': 11.75}, {'connected_gene': 'DGCR11', 'score': 11.59}, {'connected_gene': 'RANBP1', 'score': 10.59}, {'connected_gene': 'ESS2', 'score': 10.14}]

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