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
ENST00000236877 [[47931273, 47933722], [47935423, 47935702], [47940718, 47940818], [47941105, 47941230], [47944425, 47944443], [47944593, 47944697], [47951065, 47951488], [47960186, 47960851], [47968985, 47969676], [47975045, 47975425]] [[47933345, 47933722], [47935423, 47935702], [47940718, 47940818], [47941105, 47941230], [47944425, 47944443], [47944593, 47944697], [47951065, 47951488], [47960186, 47960851], [47968985, 47969660]]
ENST00000539381 [[47932996, 47933722], [47935423, 47935702], [47940718, 47940818], [47941105, 47941230], [47944425, 47944443], [47944593, 47944697], [47951065, 47951244], [47975045, 47975120]] [[47933345, 47933722], [47935423, 47935702], [47940718, 47940818], [47941105, 47941230], [47944425, 47944443], [47944593, 47944697], [47951065, 47951217]]
ENST00000542837 [[47933075, 47933722], [47935423, 47935702], [47940718, 47940818], [47941105, 47941230], [47944425, 47944443], [47944593, 47944697], [47951065, 47951488], [47960186, 47960851], [47975045, 47975129]] [[47933345, 47933722], [47935423, 47935702], [47940718, 47940818], [47941105, 47941230], [47944425, 47944443], [47944593, 47944697], [47951065, 47951488], [47960186, 47960794]]
ENST00000594353 [[47960769, 47960851], [47968985, 47969404], [47975045, 47975125]] [[47960769, 47960851], [47968985, 47969381]]
ENST00000597014 [[47968991, 47969456], [47975045, 47975150]] [[47968991, 47969426]]
ENST00000600576 [[47933491, 47933722], [47935423, 47935825]] None
ENST00000601757 [[47935663, 47935702], [47940718, 47940818], [47941105, 47941230], [47944425, 47944443], [47944593, 47944697], [47950690, 47950879]] None
NM_015063 [[47931278, 47933722], [47935423, 47935702], [47940718, 47940818], [47941105, 47941230], [47944425, 47944443], [47944593, 47944697], [47951065, 47951488], [47960186, 47960851], [47968985, 47969676], [47975045, 47975307]] [[47933345, 47933722], [47935423, 47935702], [47940718, 47940818], [47941105, 47941230], [47944425, 47944443], [47944593, 47944697], [47951065, 47951488], [47960186, 47960851], [47968985, 47969660]]
Promoter
Chrom Start End Description
chr19 47975106 47975136 CAGE_peak_3_at_SLC8A2_5end
chr19 47975143 47975184 CAGE_peak_1_at_SLC8A2_5end
chr19 47975384 47975411 CAGE_peak_2_at_SLC8A2_5end
chr19 47975417 47975441 CAGE_peak_4_at_SLC8A2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I047573 47573028 47573800 0.95 [{'connected_gene': 'ZNF541', 'score': 552.7}, {'connected_gene': 'SLC8A2', 'score': 1.38}, {'connected_gene': 'GC19P047588', 'score': 0.44}]
chr19 GH19I047457 47457913 47459210 0.66 [{'connected_gene': 'SLC8A2', 'score': 10.37}, {'connected_gene': 'MEIS3', 'score': 0.28}]
chr19 GH19I047471 47471497 47472600 1.68 [{'connected_gene': 'SLC8A2', 'score': 550.77}, {'connected_gene': 'ZC3H4', 'score': 24.07}, {'connected_gene': 'EHD2', 'score': 11.22}, {'connected_gene': 'BICRA', 'score': 10.96}, {'connected_gene': 'SNORD23', 'score': 10.8}, {'connected_gene': 'NOP53', 'score': 10.8}, {'connected_gene': 'GRWD1', 'score': 10.09}, {'connected_gene': 'MEIS3', 'score': 0.25}]
chr19 GH19I047426 47426964 47430690 1.2 [{'connected_gene': 'SLC1A5', 'score': 22.53}, {'connected_gene': 'CCDC9', 'score': 20.92}, {'connected_gene': 'NOP53', 'score': 12.03}, {'connected_gene': 'CARD8', 'score': 10.89}, {'connected_gene': 'PRKD2', 'score': 10.48}, {'connected_gene': 'NOP53-AS1', 'score': 9.89}, {'connected_gene': 'SNORD23', 'score': 9.79}, {'connected_gene': 'PNMA8A', 'score': 4.89}, {'connected_gene': 'MEIS3', 'score': 0.44}, {'connected_gene': 'GC19P047388', 'score': 0.26}, {'connected_gene': 'SLC8A2', 'score': 0.26}]
chr19 GH19I047445 47445801 47446400 1 [{'connected_gene': 'MEIS3', 'score': 0.34}, {'connected_gene': 'SLC8A2', 'score': 0.31}, {'connected_gene': 'GC19P047388', 'score': 0.22}]
chr19 GH19I047468 47468764 47468913 0.54 [{'connected_gene': 'EHD2', 'score': 11.22}, {'connected_gene': 'SNORD23', 'score': 10.8}, {'connected_gene': 'NOP53', 'score': 10.8}, {'connected_gene': 'SLC8A2', 'score': 0.77}, {'connected_gene': 'MEIS3', 'score': 0.25}]
chr19 GH19I047469 47469064 47469093 0.6 [{'connected_gene': 'EHD2', 'score': 11.22}, {'connected_gene': 'SNORD23', 'score': 10.8}, {'connected_gene': 'NOP53', 'score': 10.8}, {'connected_gene': 'SLC8A2', 'score': 0.77}, {'connected_gene': 'MEIS3', 'score': 0.25}]
chr19 GH19I048328 48328771 48334560 2.02 [{'connected_gene': 'BICRA', 'score': 38.68}, {'connected_gene': 'GRWD1', 'score': 34.32}, {'connected_gene': 'TMEM143', 'score': 24.42}, {'connected_gene': 'SNRNP70', 'score': 23.11}, {'connected_gene': 'NOP53-AS1', 'score': 22.72}, {'connected_gene': 'CA11', 'score': 14.74}, {'connected_gene': 'NOP53', 'score': 13.39}, {'connected_gene': 'KDELR1', 'score': 12.91}, {'connected_gene': 'RPL18', 'score': 12.9}, {'connected_gene': 'ZSWIM9', 'score': 12.76}, {'connected_gene': 'SYNGR4', 'score': 12.66}, {'connected_gene': 'EMP3', 'score': 11.33}, {'connected_gene': 'RUVBL2', 'score': 11.11}, {'connected_gene': 'RASIP1', 'score': 10.93}, {'connected_gene': 'SLC8A2', 'score': 10.63}, {'connected_gene': 'CYTH2', 'score': 10.44}, {'connected_gene': 'SNORD23', 'score': 10.4}, {'connected_gene': 'HSD17B14', 'score': 10.23}, {'connected_gene': 'CCDC114', 'score': 7.78}, {'connected_gene': 'CARD8', 'score': 7.55}, {'connected_gene': 'GRIN2D', 'score': 5.47}, {'connected_gene': 'ZNF114', 'score': 4.95}, {'connected_gene': 'CARD8-AS1', 'score': 4.93}, {'connected_gene': 'IZUMO1', 'score': 1.54}]
chr19 GH19I047741 47741407 47746435 2.33 [{'connected_gene': 'NOP53', 'score': 571.96}, {'connected_gene': 'ZC3H4', 'score': 76.31}, {'connected_gene': 'BICRA', 'score': 36.48}, {'connected_gene': 'SELENOW', 'score': 29.46}, {'connected_gene': 'GRWD1', 'score': 29.02}, {'connected_gene': 'RASIP1', 'score': 18.88}, {'connected_gene': 'CA11', 'score': 14.7}, {'connected_gene': 'SNORD23', 'score': 13.27}, {'connected_gene': 'ZSWIM9', 'score': 12.71}, {'connected_gene': 'NOP53-AS1', 'score': 11.95}, {'connected_gene': 'RPL18', 'score': 11.46}, {'connected_gene': 'KDELR1', 'score': 10.95}, {'connected_gene': 'SLC8A2', 'score': 10.66}, {'connected_gene': 'CCDC9', 'score': 9.99}, {'connected_gene': 'ENSG00000268746', 'score': 9.89}, {'connected_gene': 'CARD8', 'score': 4.94}, {'connected_gene': 'GC19M047700', 'score': 0.77}, {'connected_gene': 'EHD2', 'score': 0.29}]
chr19 GH19I047225 47225267 47233495 2.37 [{'connected_gene': 'BBC3', 'score': 550.77}, {'connected_gene': 'ZC3H4', 'score': 286.1}, {'connected_gene': 'BICRA', 'score': 161.17}, {'connected_gene': 'ENSG00000268810', 'score': 144.14}, {'connected_gene': 'NOP53-AS1', 'score': 116.07}, {'connected_gene': 'CCDC9', 'score': 84.67}, {'connected_gene': 'NOP53', 'score': 66.53}, {'connected_gene': 'SNORD23', 'score': 37.42}, {'connected_gene': 'PPP5D1', 'score': 33.65}, {'connected_gene': 'ENSG00000269124', 'score': 29.52}, {'connected_gene': 'PRKD2', 'score': 27.11}, {'connected_gene': 'PNMA8A', 'score': 24.57}, {'connected_gene': 'SLC1A5', 'score': 22.8}, {'connected_gene': 'ENSG00000268746', 'score': 20.33}, {'connected_gene': 'INAFM1', 'score': 20.32}, {'connected_gene': 'LIG1', 'score': 19.63}, {'connected_gene': 'ZSWIM9', 'score': 12.69}, {'connected_gene': 'STRN4', 'score': 11.81}, {'connected_gene': 'EHD2', 'score': 10.98}, {'connected_gene': 'MEIS3', 'score': 10.91}, {'connected_gene': 'PNMA8B', 'score': 10.81}, {'connected_gene': 'SLC8A2', 'score': 10.67}, {'connected_gene': 'PPP5C', 'score': 9.99}, {'connected_gene': 'MIR3191', 'score': 0.77}, {'connected_gene': 'MIR3190', 'score': 0.77}]
chr19 GH19I047446 47446779 47448346 1.4 [{'connected_gene': 'ZC3H4', 'score': 20.02}, {'connected_gene': 'SLC8A2', 'score': 7.47}, {'connected_gene': 'MEIS3', 'score': 0.31}, {'connected_gene': 'GC19P047388', 'score': 0.22}]
chr19 GH19I047716 47716863 47721299 1.53 [{'connected_gene': 'ZC3H4', 'score': 42.08}, {'connected_gene': 'BICRA', 'score': 30.85}, {'connected_gene': 'GRWD1', 'score': 24.87}, {'connected_gene': 'NOP53', 'score': 23.16}, {'connected_gene': 'NOP53-AS1', 'score': 21.17}, {'connected_gene': 'KDELR1', 'score': 20.71}, {'connected_gene': 'RPL18', 'score': 20.35}, {'connected_gene': 'CCDC9', 'score': 12.77}, {'connected_gene': 'ENSG00000268093', 'score': 12.6}, {'connected_gene': 'ENSG00000268746', 'score': 12.35}, {'connected_gene': 'EHD2', 'score': 11.37}, {'connected_gene': 'INAFM1', 'score': 10.37}, {'connected_gene': 'SNORD23', 'score': 9.93}, {'connected_gene': 'SELENOW', 'score': 9.12}, {'connected_gene': 'SLC8A2', 'score': 3.2}, {'connected_gene': 'PLA2G4C', 'score': 2.24}, {'connected_gene': 'MEIS3', 'score': 1.19}, {'connected_gene': 'PIR33748', 'score': 0.44}, {'connected_gene': 'GC19M047700', 'score': 0.34}]
chr19 GH19I047444 47444444 47444573 0.81 [{'connected_gene': 'ZC3H4', 'score': 14.3}, {'connected_gene': 'BICRA', 'score': 10.94}, {'connected_gene': 'MEIS3', 'score': 0.34}, {'connected_gene': 'SLC8A2', 'score': 0.31}, {'connected_gene': 'GC19P047388', 'score': 0.22}]
chr19 GH19I047239 47239001 47242118 1.67 [{'connected_gene': 'ZC3H4', 'score': 87.03}, {'connected_gene': 'BICRA', 'score': 57.68}, {'connected_gene': 'ENSG00000268810', 'score': 57.66}, {'connected_gene': 'NOP53', 'score': 35.11}, {'connected_gene': 'NOP53-AS1', 'score': 32.8}, {'connected_gene': 'CCDC9', 'score': 30.33}, {'connected_gene': 'ENSG00000268746', 'score': 23.59}, {'connected_gene': 'SLC1A5', 'score': 22.62}, {'connected_gene': 'EHD2', 'score': 21.18}, {'connected_gene': 'INAFM1', 'score': 20.37}, {'connected_gene': 'STRN4', 'score': 11.81}, {'connected_gene': 'LIG1', 'score': 11.25}, {'connected_gene': 'SLC8A2', 'score': 3.72}, {'connected_gene': 'BBC3', 'score': 0.44}]
chr19 GH19I047436 47436724 47436893 0.81 [{'connected_gene': 'ZC3H4', 'score': 19.7}, {'connected_gene': 'BICRA', 'score': 17.15}, {'connected_gene': 'NOP53-AS1', 'score': 12.09}, {'connected_gene': 'MEIS3', 'score': 0.39}, {'connected_gene': 'SLC8A2', 'score': 0.28}, {'connected_gene': 'GC19P047388', 'score': 0.25}]
chr19 GH19I048062 48061563 48062713 0.46 [{'connected_gene': 'PLA2G4C-AS1', 'score': 550.77}, {'connected_gene': 'SLC8A2', 'score': 5.74}, {'connected_gene': 'PLA2G4C', 'score': 0.25}]
chr19 GH19I046600 46600083 46604706 2.33 [{'connected_gene': 'PPP5D1', 'score': 565.51}, {'connected_gene': 'CALM3', 'score': 556.9}, {'connected_gene': 'ENSG00000268423', 'score': 550.77}, {'connected_gene': 'GC19M046598', 'score': 550.77}, {'connected_gene': 'ZC3H4', 'score': 65.44}, {'connected_gene': 'ENSG00000268810', 'score': 43.08}, {'connected_gene': 'CCDC61', 'score': 40.01}, {'connected_gene': 'ENSG00000269148', 'score': 36.1}, {'connected_gene': 'FBXO46', 'score': 30.44}, {'connected_gene': 'CCDC9', 'score': 22.26}, {'connected_gene': 'IRF2BP1', 'score': 21.24}, {'connected_gene': 'PNMA8A', 'score': 14.67}, {'connected_gene': 'DM1-AS', 'score': 13.24}, {'connected_gene': 'GNG8', 'score': 12.29}, {'connected_gene': 'SLC1A5', 'score': 12.06}, {'connected_gene': 'INAFM1', 'score': 11.49}, {'connected_gene': 'PNMA8B', 'score': 10.93}, {'connected_gene': 'ENSG00000269124', 'score': 10.85}, {'connected_gene': 'SLC8A2', 'score': 10.63}, {'connected_gene': 'SAE1', 'score': 10.42}, {'connected_gene': 'QPCTL', 'score': 10.41}, {'connected_gene': 'ENSG00000259605', 'score': 10.18}, {'connected_gene': 'PRKD2', 'score': 10.14}, {'connected_gene': 'NOVA2', 'score': 9.82}, {'connected_gene': 'SNRPD2', 'score': 9.67}, {'connected_gene': 'ENSG00000269292', 'score': 0.44}]
chr19 GH19I047479 47479401 47481106 0.87 [{'connected_gene': 'NAPA-AS1', 'score': 0.77}, {'connected_gene': 'KPTN', 'score': 0.44}, {'connected_gene': 'SLC8A2', 'score': 0.44}]
chr19 GH19I047774 47774069 47774366 1.03 [{'connected_gene': 'GC19P047775', 'score': 550.77}, {'connected_gene': 'PLA2G4C', 'score': 4.88}, {'connected_gene': 'SLC8A2', 'score': 2.98}, {'connected_gene': 'NOP53-AS1', 'score': 0.44}]
chr19 GH19I047489 47489882 47491435 0.81 [{'connected_gene': 'ENSG00000279861', 'score': 550.77}, {'connected_gene': 'ZC3H4', 'score': 14.97}, {'connected_gene': 'PPP5D1', 'score': 14.76}, {'connected_gene': 'BICRA', 'score': 13.04}, {'connected_gene': 'ZSWIM9', 'score': 12.7}, {'connected_gene': 'NAPA', 'score': 12.61}, {'connected_gene': 'SLC1A5', 'score': 12.57}, {'connected_gene': 'SLC8A2', 'score': 10.97}, {'connected_gene': 'PNMA8B', 'score': 10.81}, {'connected_gene': 'GRWD1', 'score': 10.76}, {'connected_gene': 'CCDC9', 'score': 10.12}, {'connected_gene': 'ZNF541', 'score': 5.45}, {'connected_gene': 'TMEM143', 'score': 5.36}, {'connected_gene': 'NAPA-AS1', 'score': 0.44}]

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