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
ENST00000254928 [[27181955, 27182335], [27183281, 27183409], [27183522, 27183600], [27184956, 27185003], [27185163, 27185225], [27185391, 27185504], [27185593, 27185842], [27185981, 27186131], [27186220, 27186301], [27187448, 27188085]] [[27182052, 27182335], [27183281, 27183409], [27183522, 27183600], [27184956, 27185003], [27185163, 27185225], [27185391, 27185504], [27185593, 27185842], [27185981, 27186131], [27186220, 27186301], [27187448, 27187571]]
ENST00000412138 [[27182027, 27182335], [27183281, 27183409], [27183522, 27183703], [27184956, 27185003], [27185163, 27185225], [27185391, 27185504], [27185593, 27185793]] [[27182052, 27182335], [27183281, 27183409], [27183522, 27183627]]
ENST00000578001 [[27182046, 27182335], [27183281, 27183409], [27183522, 27183600], [27185163, 27185225], [27185391, 27185413]] None
ENST00000461894 [[27182053, 27182335], [27183281, 27183409], [27183522, 27183600], [27184956, 27185003], [27185163, 27185225], [27185391, 27185504], [27185593, 27185651], [27185981, 27186131], [27186220, 27186301], [27187448, 27188077]] [[27182053, 27182335], [27183281, 27183409], [27183522, 27183600], [27184956, 27185003], [27185163, 27185225], [27185391, 27185504], [27185593, 27185651], [27185981, 27186043]]
ENST00000580917 [[27182063, 27182335], [27183281, 27183409], [27183522, 27183600], [27184956, 27185003], [27185163, 27185225], [27185391, 27185504], [27185981, 27186131]] [[27182063, 27182335], [27183281, 27183409], [27183522, 27183600], [27184956, 27185003], [27185163, 27185225], [27185391, 27185504], [27185981, 27186131]]
ENST00000577942 [[27185039, 27185225], [27185391, 27185504], [27185593, 27185842], [27185981, 27186131]] None
ENST00000471992 [[27185055, 27185504], [27185593, 27185842], [27185981, 27186131], [27186220, 27186301], [27187448, 27188027]] None
ENST00000583487 [[27186002, 27186131], [27186220, 27186301], [27187594, 27188079]] [[27186002, 27186131], [27186220, 27186301], [27187594, 27187627]]
NM_001317985 [[27181974, 27182335], [27183281, 27183409], [27183522, 27183597], [27184956, 27185003], [27185163, 27185225], [27185391, 27185504], [27185593, 27185842], [27185981, 27186131], [27186220, 27186301], [27187448, 27188085]] [[27182052, 27182335], [27183281, 27183409], [27183522, 27183597], [27184956, 27185003], [27185163, 27185225], [27185391, 27185504], [27185593, 27185842], [27185981, 27186131], [27186220, 27186301], [27187448, 27187571]]
NM_001317986 [[27181974, 27182335], [27183281, 27183409], [27183522, 27183600], [27184956, 27185003], [27185163, 27185225], [27185391, 27185504], [27185981, 27186131], [27186220, 27186301], [27187448, 27188085]] [[27182052, 27182335], [27183281, 27183409], [27183522, 27183600], [27184956, 27185003], [27185163, 27185225], [27185391, 27185504], [27185981, 27186131], [27186220, 27186301], [27187448, 27187571]]
NR_134328 [[27181974, 27182335], [27183281, 27183409], [27183522, 27183600], [27184956, 27185003], [27185163, 27185225], [27185391, 27185504], [27185593, 27185651], [27185981, 27186131], [27186220, 27186301], [27187448, 27188085]] None
NM_005702 [[27181974, 27182335], [27183281, 27183409], [27183522, 27183600], [27184956, 27185003], [27185163, 27185225], [27185391, 27185504], [27185593, 27185842], [27185981, 27186131], [27186220, 27186301], [27187448, 27188085]] [[27182052, 27182335], [27183281, 27183409], [27183522, 27183600], [27184956, 27185003], [27185163, 27185225], [27185391, 27185504], [27185593, 27185842], [27185981, 27186131], [27186220, 27186301], [27187448, 27187571]]
Promoter
Chrom Start End Description
chr17 27182021 27182055 CAGE_peak_1_at_ERAL1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I028773 28773892 28774162 0.22 [{'connected_gene': 'TRAF4', 'score': 24.32}, {'connected_gene': 'ERAL1', 'score': 12.45}, {'connected_gene': 'FAM222B', 'score': 12.45}, {'connected_gene': 'FLOT2', 'score': 11.68}, {'connected_gene': 'DHRS13', 'score': 11.56}, {'connected_gene': 'SNORD4A', 'score': 11.44}, {'connected_gene': 'SNORD42A', 'score': 11.44}, {'connected_gene': 'SNORD4B', 'score': 11.44}, {'connected_gene': 'TLCD1', 'score': 10.97}, {'connected_gene': 'NEK8', 'score': 10.97}, {'connected_gene': 'ENSG00000265840', 'score': 0.34}, {'connected_gene': 'RPL31P58', 'score': 0.31}]
chr17 GH17I028765 28764416 28767223 0.38 [{'connected_gene': 'TRAF4', 'score': 24.88}, {'connected_gene': 'PROCA1', 'score': 16.36}, {'connected_gene': 'TLCD1', 'score': 12.16}, {'connected_gene': 'NEK8', 'score': 12.16}, {'connected_gene': 'SNORD42A', 'score': 12.15}, {'connected_gene': 'SNORD4B', 'score': 12.15}, {'connected_gene': 'FAM222B', 'score': 12.0}, {'connected_gene': 'ERAL1', 'score': 12.0}, {'connected_gene': 'SNORD4A', 'score': 11.84}, {'connected_gene': 'RPL23A', 'score': 11.83}, {'connected_gene': 'SNORD42B', 'score': 11.83}, {'connected_gene': 'RAB34', 'score': 11.83}, {'connected_gene': 'FLOT2', 'score': 11.67}, {'connected_gene': 'DHRS13', 'score': 11.44}, {'connected_gene': 'PHF12', 'score': 10.21}, {'connected_gene': 'SEZ6', 'score': 10.2}, {'connected_gene': 'KIAA0100', 'score': 9.88}, {'connected_gene': 'ENSG00000265840', 'score': 0.37}, {'connected_gene': 'RPL31P58', 'score': 0.28}]
chr17 GH17I028760 28760182 28762360 1.09 [{'connected_gene': 'TRAF4', 'score': 12.59}, {'connected_gene': 'TLCD1', 'score': 12.18}, {'connected_gene': 'NEK8', 'score': 12.16}, {'connected_gene': 'SNORD42A', 'score': 12.16}, {'connected_gene': 'SNORD4B', 'score': 12.16}, {'connected_gene': 'FAM222B', 'score': 11.99}, {'connected_gene': 'ERAL1', 'score': 11.99}, {'connected_gene': 'SNORD4A', 'score': 11.86}, {'connected_gene': 'RPL23A', 'score': 11.84}, {'connected_gene': 'SNORD42B', 'score': 11.84}, {'connected_gene': 'RAB34', 'score': 11.84}, {'connected_gene': 'FLOT2', 'score': 11.43}, {'connected_gene': 'DHRS13', 'score': 11.24}, {'connected_gene': 'PROCA1', 'score': 10.81}, {'connected_gene': 'PHF12', 'score': 10.12}, {'connected_gene': 'SEZ6', 'score': 10.11}, {'connected_gene': 'KIAA0100', 'score': 9.66}, {'connected_gene': 'ENSG00000265840', 'score': 0.39}, {'connected_gene': 'RPL31P58', 'score': 0.26}]
chr17 GH17I028763 28763583 28763732 0.9 [{'connected_gene': 'TRAF4', 'score': 12.59}, {'connected_gene': 'TLCD1', 'score': 12.16}, {'connected_gene': 'NEK8', 'score': 12.16}, {'connected_gene': 'SNORD4B', 'score': 12.16}, {'connected_gene': 'SNORD42A', 'score': 12.15}, {'connected_gene': 'FAM222B', 'score': 11.99}, {'connected_gene': 'ERAL1', 'score': 11.99}, {'connected_gene': 'RPL23A', 'score': 11.84}, {'connected_gene': 'SNORD4A', 'score': 11.84}, {'connected_gene': 'SNORD42B', 'score': 11.84}, {'connected_gene': 'RAB34', 'score': 11.83}, {'connected_gene': 'FLOT2', 'score': 11.43}, {'connected_gene': 'DHRS13', 'score': 11.25}, {'connected_gene': 'PROCA1', 'score': 10.79}, {'connected_gene': 'PHF12', 'score': 10.12}, {'connected_gene': 'SEZ6', 'score': 10.11}, {'connected_gene': 'KIAA0100', 'score': 9.66}, {'connected_gene': 'ENSG00000265840', 'score': 0.39}, {'connected_gene': 'RPL31P58', 'score': 0.28}]
chr17 GH17I029743 29743911 29745752 1.4 [{'connected_gene': 'GOSR1', 'score': 103.41}, {'connected_gene': 'LRRC37BP1', 'score': 84.65}, {'connected_gene': 'SH3GL1P2', 'score': 57.87}, {'connected_gene': 'SUZ12P1', 'score': 46.3}, {'connected_gene': 'SMURF2P1', 'score': 41.45}, {'connected_gene': 'CORO6', 'score': 35.46}, {'connected_gene': 'NUFIP2', 'score': 23.59}, {'connected_gene': 'TBC1D29', 'score': 14.6}, {'connected_gene': 'ENSG00000264290', 'score': 14.19}, {'connected_gene': 'LOC101927018', 'score': 13.53}, {'connected_gene': 'PHF12', 'score': 13.06}, {'connected_gene': 'ANKRD13B', 'score': 13.01}, {'connected_gene': 'NSRP1', 'score': 12.57}, {'connected_gene': 'ENSG00000265908', 'score': 11.37}, {'connected_gene': 'RNU6-920P', 'score': 10.89}, {'connected_gene': 'ERAL1', 'score': 9.94}, {'connected_gene': 'TAOK1', 'score': 9.71}, {'connected_gene': 'ENSG00000239129', 'score': 9.12}, {'connected_gene': 'ENSG00000263657', 'score': 0.37}, {'connected_gene': 'RPL21P123', 'score': 0.31}, {'connected_gene': 'SSH2', 'score': 0.09}]
chr17 GH17I028807 28807015 28813863 2.47 [{'connected_gene': 'FAM222B', 'score': 562.25}, {'connected_gene': 'TRAF4', 'score': 25.05}, {'connected_gene': 'LOC101927018', 'score': 12.46}, {'connected_gene': 'ERAL1', 'score': 12.25}, {'connected_gene': 'FLOT2', 'score': 11.49}, {'connected_gene': 'DHRS13', 'score': 11.35}, {'connected_gene': 'TLCD1', 'score': 11.04}, {'connected_gene': 'NEK8', 'score': 11.04}, {'connected_gene': 'SNORD42A', 'score': 11.03}, {'connected_gene': 'SNORD4B', 'score': 11.03}, {'connected_gene': 'SNORD4A', 'score': 10.69}, {'connected_gene': 'SNORD42B', 'score': 10.69}, {'connected_gene': 'RPL23A', 'score': 10.68}, {'connected_gene': 'RAB34', 'score': 10.68}, {'connected_gene': 'SUPT6H', 'score': 10.44}, {'connected_gene': 'KIAA0100', 'score': 10.1}, {'connected_gene': 'PROCA1', 'score': 10.05}, {'connected_gene': 'GC17P028803', 'score': 0.44}, {'connected_gene': 'GC17P028835', 'score': 0.34}]
chr17 GH17I029041 29041683 29044306 1.87 [{'connected_gene': 'PIPOX', 'score': 550.16}, {'connected_gene': 'ENSG00000264044', 'score': 39.36}, {'connected_gene': 'TIAF1', 'score': 21.15}, {'connected_gene': 'SUPT6H', 'score': 19.29}, {'connected_gene': 'PHF12', 'score': 11.96}, {'connected_gene': 'MYO18A', 'score': 11.75}, {'connected_gene': 'SEZ6', 'score': 11.6}, {'connected_gene': 'SGK494', 'score': 11.21}, {'connected_gene': 'TMEM199', 'score': 10.5}, {'connected_gene': 'ERAL1', 'score': 9.89}, {'connected_gene': 'ERVE-1', 'score': 4.05}, {'connected_gene': 'NDUFS5P7', 'score': 0.34}, {'connected_gene': 'GC17M029118', 'score': 0.07}]
chr17 GH17I028915 28915835 28917945 0.64 [{'connected_gene': 'ERAL1', 'score': 12.41}, {'connected_gene': 'FAM222B', 'score': 12.41}, {'connected_gene': 'PHF12', 'score': 11.17}, {'connected_gene': 'SEZ6', 'score': 11.04}, {'connected_gene': 'SNORD42A', 'score': 11.0}, {'connected_gene': 'SNORD4B', 'score': 11.0}, {'connected_gene': 'SNORD4A', 'score': 10.6}, {'connected_gene': 'RPL23A', 'score': 10.6}, {'connected_gene': 'SNORD42B', 'score': 10.6}, {'connected_gene': 'RAB34', 'score': 10.6}, {'connected_gene': 'TRAF4', 'score': 3.88}, {'connected_gene': 'LOC101927018', 'score': 0.44}, {'connected_gene': 'DHRS13', 'score': 0.39}]
chr17 GH17I028911 28911693 28912957 1.1 [{'connected_gene': 'ERAL1', 'score': 12.42}, {'connected_gene': 'FAM222B', 'score': 12.42}, {'connected_gene': 'SNORD42A', 'score': 11.3}, {'connected_gene': 'SNORD4A', 'score': 10.71}, {'connected_gene': 'RPL23A', 'score': 10.6}, {'connected_gene': 'SNORD42B', 'score': 10.6}, {'connected_gene': 'RAB34', 'score': 10.6}, {'connected_gene': 'DHRS13', 'score': 0.44}, {'connected_gene': 'LOC101927018', 'score': 0.39}, {'connected_gene': 'PHF12', 'score': 0.28}]
chr17 GH17I028914 28914743 28914852 0.59 [{'connected_gene': 'ERAL1', 'score': 12.42}, {'connected_gene': 'FAM222B', 'score': 12.42}, {'connected_gene': 'SNORD42A', 'score': 11.0}, {'connected_gene': 'SNORD4A', 'score': 10.6}, {'connected_gene': 'SNORD42B', 'score': 10.6}, {'connected_gene': 'RPL23A', 'score': 10.6}, {'connected_gene': 'RAB34', 'score': 10.6}, {'connected_gene': 'LOC101927018', 'score': 0.39}, {'connected_gene': 'DHRS13', 'score': 0.39}, {'connected_gene': 'PHF12', 'score': 0.28}]
chr17 GH17I028854 28854199 28855917 2.06 [{'connected_gene': 'ERAL1', 'score': 550.77}, {'connected_gene': 'FAM222B', 'score': 550.77}, {'connected_gene': 'FLOT2', 'score': 11.88}, {'connected_gene': 'DHRS13', 'score': 11.41}, {'connected_gene': 'SNORD4A', 'score': 10.74}, {'connected_gene': 'SNORD42A', 'score': 10.74}, {'connected_gene': 'SNORD4B', 'score': 10.73}, {'connected_gene': 'PROCA1', 'score': 9.17}]
chr17 GH17I028918 28918964 28919458 0.2 [{'connected_gene': 'FLOT2', 'score': 12.11}, {'connected_gene': 'ERAL1', 'score': 12.03}, {'connected_gene': 'FAM222B', 'score': 12.03}, {'connected_gene': 'PHF12', 'score': 11.17}, {'connected_gene': 'SEZ6', 'score': 11.04}, {'connected_gene': 'RPL23A', 'score': 10.59}, {'connected_gene': 'SNORD4A', 'score': 10.59}, {'connected_gene': 'SNORD42B', 'score': 10.59}, {'connected_gene': 'SNORD42A', 'score': 10.59}, {'connected_gene': 'RAB34', 'score': 10.59}, {'connected_gene': 'SNORD4B', 'score': 10.43}, {'connected_gene': 'LOC101927018', 'score': 0.44}, {'connected_gene': 'DHRS13', 'score': 0.37}]
chr17 GH17I028921 28921608 28922639 0.2 [{'connected_gene': 'FLOT2', 'score': 12.11}, {'connected_gene': 'ERAL1', 'score': 12.02}, {'connected_gene': 'FAM222B', 'score': 12.02}, {'connected_gene': 'PHF12', 'score': 11.8}, {'connected_gene': 'SEZ6', 'score': 11.67}, {'connected_gene': 'SNORD4A', 'score': 10.91}, {'connected_gene': 'SNORD42A', 'score': 10.91}, {'connected_gene': 'SNORD4B', 'score': 10.91}, {'connected_gene': 'RPL23A', 'score': 10.75}, {'connected_gene': 'SNORD42B', 'score': 10.75}, {'connected_gene': 'RAB34', 'score': 10.75}, {'connected_gene': 'LOC101927018', 'score': 0.77}, {'connected_gene': 'DHRS13', 'score': 0.37}]
chr17 GH17I028857 28857862 28859543 0.59 [{'connected_gene': 'FLOT2', 'score': 12.4}, {'connected_gene': 'DHRS13', 'score': 11.68}, {'connected_gene': 'SNORD4A', 'score': 10.74}, {'connected_gene': 'SNORD42A', 'score': 10.74}, {'connected_gene': 'SNORD4B', 'score': 10.73}, {'connected_gene': 'TRAF4', 'score': 10.47}, {'connected_gene': 'KIAA0100', 'score': 9.55}, {'connected_gene': 'ERAL1', 'score': 0.77}, {'connected_gene': 'GC17P028862', 'score': 0.77}, {'connected_gene': 'FAM222B', 'score': 0.77}]
chr17 GH17I028767 28767569 28768607 0.2 [{'connected_gene': 'PROCA1', 'score': 13.91}, {'connected_gene': 'TRAF4', 'score': 12.11}, {'connected_gene': 'FLOT2', 'score': 11.68}, {'connected_gene': 'SNORD42A', 'score': 11.47}, {'connected_gene': 'SNORD4B', 'score': 11.47}, {'connected_gene': 'ERAL1', 'score': 11.47}, {'connected_gene': 'FAM222B', 'score': 11.47}, {'connected_gene': 'SNORD4A', 'score': 11.46}, {'connected_gene': 'DHRS13', 'score': 11.44}, {'connected_gene': 'TLCD1', 'score': 10.99}, {'connected_gene': 'NEK8', 'score': 10.99}, {'connected_gene': 'ENSG00000265840', 'score': 0.37}, {'connected_gene': 'RPL31P58', 'score': 0.29}]
chr17 GH17I028764 28763823 28764012 0.98 [{'connected_gene': 'TLCD1', 'score': 12.16}, {'connected_gene': 'NEK8', 'score': 12.16}, {'connected_gene': 'SNORD42A', 'score': 12.15}, {'connected_gene': 'SNORD4B', 'score': 12.15}, {'connected_gene': 'FAM222B', 'score': 11.99}, {'connected_gene': 'ERAL1', 'score': 11.99}, {'connected_gene': 'RPL23A', 'score': 11.84}, {'connected_gene': 'SNORD4A', 'score': 11.84}, {'connected_gene': 'SNORD42B', 'score': 11.84}, {'connected_gene': 'RAB34', 'score': 11.83}, {'connected_gene': 'FLOT2', 'score': 11.43}, {'connected_gene': 'DHRS13', 'score': 11.25}, {'connected_gene': 'PROCA1', 'score': 10.79}, {'connected_gene': 'PHF12', 'score': 10.12}, {'connected_gene': 'SEZ6', 'score': 10.11}, {'connected_gene': 'KIAA0100', 'score': 9.66}, {'connected_gene': 'ENSG00000265840', 'score': 0.39}, {'connected_gene': 'RPL31P58', 'score': 0.28}]
chr17 GH17I028923 28923680 28928446 1.56 [{'connected_gene': 'LOC101927018', 'score': 550.77}, {'connected_gene': 'PHF12', 'score': 15.47}, {'connected_gene': 'FLOT2', 'score': 13.3}, {'connected_gene': 'DHRS13', 'score': 12.48}, {'connected_gene': 'FAM222B', 'score': 11.82}, {'connected_gene': 'ERAL1', 'score': 11.82}, {'connected_gene': 'SEZ6', 'score': 11.67}, {'connected_gene': 'SUPT6H', 'score': 11.35}, {'connected_gene': 'NUFIP2', 'score': 11.09}, {'connected_gene': 'SNORD4A', 'score': 10.91}, {'connected_gene': 'SNORD42A', 'score': 10.91}, {'connected_gene': 'SNORD4B', 'score': 10.91}, {'connected_gene': 'ENSG00000264044', 'score': 9.77}, {'connected_gene': 'ENSG00000264577', 'score': 9.73}, {'connected_gene': 'PROCA1', 'score': 7.03}, {'connected_gene': 'ANKRD13B', 'score': 4.53}, {'connected_gene': 'NEK8', 'score': 3.23}, {'connected_gene': 'UNC119', 'score': 1.71}, {'connected_gene': 'SDF2', 'score': 1.21}]
chr17 GH17I028802 28802079 28802427 0.63 [{'connected_gene': 'GC17P028803', 'score': 550.77}, {'connected_gene': 'RPL31P58', 'score': 550.77}, {'connected_gene': 'TRAF4', 'score': 23.61}, {'connected_gene': 'ERAL1', 'score': 11.89}, {'connected_gene': 'FAM222B', 'score': 11.89}, {'connected_gene': 'FLOT2', 'score': 11.26}, {'connected_gene': 'PROCA1', 'score': 11.24}, {'connected_gene': 'DHRS13', 'score': 11.08}, {'connected_gene': 'ENSG00000265840', 'score': 0.23}]

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