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
ENST00000371754 [[47854482, 47855837], [47858346, 47858460], [47868063, 47868159], [47869256, 47869367], [47870202, 47870348], [47871031, 47871186], [47872344, 47872484], [47873953, 47874201], [47876999, 47877114], [47879870, 47880020], [47881252, 47881401], [47882671, 47882803], [47886478, 47888287], [47892315, 47892424], [47894557, 47894963]] [[47855450, 47855837], [47858346, 47858460], [47868063, 47868159], [47869256, 47869367], [47870202, 47870348], [47871031, 47871186], [47872344, 47872484], [47873953, 47874201], [47876999, 47877114], [47879870, 47880020], [47881252, 47881401], [47882671, 47882803], [47886478, 47888287], [47892315, 47892376]]
ENST00000469991 [[47855479, 47855837], [47858346, 47858460], [47861121, 47861289]] None
ENST00000371752 [[47862433, 47866248], [47868063, 47868159], [47869256, 47869367], [47870202, 47870348], [47871031, 47871186], [47872344, 47872484], [47873953, 47874201], [47876999, 47877114], [47879870, 47880020], [47881252, 47881401], [47882671, 47882803], [47886478, 47888287], [47892315, 47892416], [47894557, 47894602]] [[47863803, 47866248], [47868063, 47868159], [47869256, 47869367], [47870202, 47870348], [47871031, 47871186], [47872344, 47872484], [47873953, 47874201], [47876999, 47877114], [47879870, 47880020], [47881252, 47881401], [47882671, 47882803], [47886478, 47888287], [47892315, 47892376]]
ENST00000396105 [[47862436, 47866248], [47868063, 47868159], [47869256, 47869367], [47870202, 47870348], [47871031, 47871186], [47872344, 47872484], [47873953, 47874201], [47876999, 47877114], [47879870, 47880020], [47881252, 47881401], [47882671, 47882803], [47886478, 47888287], [47892315, 47892424], [47894557, 47894756]] [[47863803, 47866248], [47868063, 47868159], [47869256, 47869367], [47870202, 47870348], [47871031, 47871186], [47872344, 47872484], [47873953, 47874201], [47876999, 47877114], [47879870, 47880020], [47881252, 47881401], [47882671, 47882803], [47886478, 47888287], [47892315, 47892376]]
ENST00000371744 [[47872344, 47872484], [47873953, 47874201], [47876999, 47877114], [47879870, 47880020], [47881252, 47881401], [47882671, 47882803], [47886478, 47888287], [47892315, 47892424], [47894466, 47894578]] [[47872344, 47872484], [47873953, 47874201], [47876999, 47877114], [47879870, 47880020], [47881252, 47881401], [47882671, 47882803], [47886478, 47888287], [47892315, 47892376]]
ENST00000455070 [[47872469, 47872515], [47873953, 47874201], [47876999, 47877114], [47879870, 47880020], [47881252, 47881401], [47882671, 47882803], [47886478, 47887760]] [[47872469, 47872515], [47873953, 47874201], [47876999, 47877114], [47879870, 47880020], [47881252, 47881401], [47882671, 47882803], [47886478, 47887760]]
NM_021035 [[47862436, 47866248], [47868063, 47868159], [47869256, 47869367], [47870202, 47870348], [47871031, 47871186], [47872344, 47872484], [47873953, 47874201], [47876999, 47877114], [47879870, 47880020], [47881252, 47881401], [47882671, 47882803], [47886478, 47888287], [47892315, 47892424], [47894557, 47894756]] [[47863803, 47866248], [47868063, 47868159], [47869256, 47869367], [47870202, 47870348], [47871031, 47871186], [47872344, 47872484], [47873953, 47874201], [47876999, 47877114], [47879870, 47880020], [47881252, 47881401], [47882671, 47882803], [47886478, 47888287], [47892315, 47892376]]
Promoter
Chrom Start End Description
chr20 47894569 47894799 CAGE_peak_1_at_ZNFX1_5end
chr20 47894852 47894860 CAGE_peak_25_at_ZNFX1_5end
chr20 47894936 47895010 CAGE_peak_2_at_ZNFX1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr20 GH20I049134 49134428 49134542 0.34 [{'connected_gene': 'ARPC3P1', 'score': 550.77}, {'connected_gene': 'CSE1L', 'score': 28.64}, {'connected_gene': 'DDX27', 'score': 12.88}, {'connected_gene': 'STAU1', 'score': 11.62}, {'connected_gene': 'ZNFX1', 'score': 3.02}, {'connected_gene': 'PIR47119', 'score': 0.37}]
chr20 GH20I049320 49320604 49320713 0.64 [{'connected_gene': 'SNORD12', 'score': 12.05}, {'connected_gene': 'ZNFX1', 'score': 12.04}, {'connected_gene': 'SNORD12B', 'score': 12.04}, {'connected_gene': 'LOC105372649', 'score': 0.77}, {'connected_gene': 'GC20M049341', 'score': 0.34}, {'connected_gene': 'KCNB1', 'score': 0.1}]
chr20 GH20I049724 49724388 49726399 1.43 [{'connected_gene': 'SNAI1', 'score': 18.98}, {'connected_gene': 'DDX27', 'score': 16.03}, {'connected_gene': 'SLC9A8', 'score': 12.7}, {'connected_gene': 'B4GALT5', 'score': 9.82}, {'connected_gene': 'ENSG00000232043', 'score': 9.71}, {'connected_gene': 'ZNFX1', 'score': 6.85}, {'connected_gene': 'CEBPB', 'score': 6.79}, {'connected_gene': 'KRT18P4', 'score': 4.58}, {'connected_gene': 'TMEM189', 'score': 2.26}, {'connected_gene': 'RNF114', 'score': 1.23}, {'connected_gene': 'GC20M049730', 'score': 0.77}, {'connected_gene': 'RN7SL197P', 'score': 0.77}]
chr20 GH20I049727 49726784 49728285 1.31 [{'connected_gene': 'SNAI1', 'score': 20.94}, {'connected_gene': 'SLC9A8', 'score': 15.44}, {'connected_gene': 'B4GALT5', 'score': 14.8}, {'connected_gene': 'CEBPB', 'score': 12.48}, {'connected_gene': 'ZNFX1', 'score': 11.15}, {'connected_gene': 'TMEM189', 'score': 2.27}, {'connected_gene': 'RNF114', 'score': 1.82}, {'connected_gene': 'GC20M049730', 'score': 0.77}, {'connected_gene': 'RN7SL197P', 'score': 0.44}]
chr20 GH20I049750 49750393 49751633 1.38 [{'connected_gene': 'SNAI1', 'score': 24.03}, {'connected_gene': 'SLC9A8', 'score': 23.21}, {'connected_gene': 'B4GALT5', 'score': 14.63}, {'connected_gene': 'CEBPB', 'score': 14.62}, {'connected_gene': 'ZNFX1', 'score': 11.41}, {'connected_gene': 'TMEM189', 'score': 2.38}, {'connected_gene': 'RNF114', 'score': 2.09}, {'connected_gene': 'GC20P049744', 'score': 0.44}, {'connected_gene': 'LOC105372652', 'score': 0.34}]
chr20 GH20I048797 48797201 48798800 1.46 [{'connected_gene': 'PREX1', 'score': 18.3}, {'connected_gene': 'DDX27', 'score': 17.75}, {'connected_gene': 'STAU1', 'score': 4.44}, {'connected_gene': 'ZNFX1', 'score': 2.8}, {'connected_gene': 'GC20P048702', 'score': 0.15}]
chr20 GH20I048816 48816090 48829606 2.75 [{'connected_gene': 'PREX1', 'score': 591.86}, {'connected_gene': 'DDX27', 'score': 27.63}, {'connected_gene': 'ZNFX1', 'score': 14.24}, {'connected_gene': 'CSE1L', 'score': 10.89}, {'connected_gene': 'SLC9A8', 'score': 10.56}, {'connected_gene': 'STAU1', 'score': 6.57}, {'connected_gene': 'LOC105372648', 'score': 0.2}, {'connected_gene': 'GC20P048702', 'score': 0.13}]
chr20 GH20I049323 49323568 49324495 1.2 [{'connected_gene': 'ZNFX1', 'score': 16.47}, {'connected_gene': 'KCNB1', 'score': 11.25}, {'connected_gene': 'SNORD12B', 'score': 10.64}, {'connected_gene': 'SNORD12', 'score': 10.64}, {'connected_gene': 'ARFGEF2', 'score': 5.76}, {'connected_gene': 'LOC105372649', 'score': 0.44}, {'connected_gene': 'GC20M049341', 'score': 0.37}]
chr20 GH20I049275 49275356 49284553 2.87 [{'connected_gene': 'ZNFX1', 'score': 593.57}, {'connected_gene': 'SNORD12B', 'score': 587.56}, {'connected_gene': 'ZFAS1', 'score': 570.69}, {'connected_gene': 'SNORD12', 'score': 560.54}, {'connected_gene': 'GC20P049317', 'score': 550.77}, {'connected_gene': 'GC20P049320', 'score': 550.77}, {'connected_gene': 'GC20P049321', 'score': 550.77}, {'connected_gene': 'ENSG00000274760', 'score': 550.77}, {'connected_gene': 'SNORD12C', 'score': 550.77}, {'connected_gene': 'ENSG00000277967', 'score': 550.77}, {'connected_gene': 'GC20P049313', 'score': 550.77}, {'connected_gene': 'GC20P049318', 'score': 550.77}, {'connected_gene': 'GC20P049319', 'score': 550.77}, {'connected_gene': 'ENSG00000277830', 'score': 550.77}, {'connected_gene': 'DDX27', 'score': 120.35}, {'connected_gene': 'CSE1L', 'score': 43.25}, {'connected_gene': 'B4GALT5', 'score': 18.8}, {'connected_gene': 'RNF114', 'score': 14.97}, {'connected_gene': 'ARFGEF2', 'score': 12.66}, {'connected_gene': 'KRT18P4', 'score': 10.68}]
chr20 GH20I048794 48794001 48795167 1.44 [{'connected_gene': 'DDX27', 'score': 17.75}, {'connected_gene': 'PREX1', 'score': 6.48}, {'connected_gene': 'ZNFX1', 'score': 4.2}, {'connected_gene': 'STAU1', 'score': 4.06}, {'connected_gene': 'GC20P048702', 'score': 0.16}]
chr20 GH20I048781 48781378 48790020 1.64 [{'connected_gene': 'DDX27', 'score': 17.74}, {'connected_gene': 'PREX1', 'score': 14.89}, {'connected_gene': 'ZNFX1', 'score': 8.77}, {'connected_gene': 'CSE1L', 'score': 4.35}, {'connected_gene': 'GC20P048702', 'score': 0.18}]
chr20 GH20I048857 48857717 48858734 1.06 [{'connected_gene': 'DDX27', 'score': 17.75}, {'connected_gene': 'PREX1', 'score': 12.7}, {'connected_gene': 'ARFGEF2', 'score': 11.35}, {'connected_gene': 'ZNFX1', 'score': 6.67}, {'connected_gene': 'STAU1', 'score': 5.88}, {'connected_gene': 'LOC105372648', 'score': 0.31}]
chr20 GH20I048830 48830913 48833135 1.62 [{'connected_gene': 'DDX27', 'score': 42.03}, {'connected_gene': 'ZNFX1', 'score': 13.07}, {'connected_gene': 'PREX1', 'score': 12.33}, {'connected_gene': 'ARFGEF2', 'score': 11.22}, {'connected_gene': 'CSE1L', 'score': 10.89}, {'connected_gene': 'LOC105372648', 'score': 0.22}]
chr20 GH20I049288 49285984 49286133 0.49 [{'connected_gene': 'DDX27', 'score': 17.22}, {'connected_gene': 'ZNFX1', 'score': 12.67}, {'connected_gene': 'SNORD12B', 'score': 11.48}, {'connected_gene': 'ZFAS1', 'score': 0.44}, {'connected_gene': 'SNORD12', 'score': 0.44}, {'connected_gene': 'LOC105372649', 'score': 0.29}]
chr20 GH20I049286 49286284 49286433 0.54 [{'connected_gene': 'DDX27', 'score': 17.22}, {'connected_gene': 'ZNFX1', 'score': 12.67}, {'connected_gene': 'SNORD12B', 'score': 11.48}, {'connected_gene': 'ZFAS1', 'score': 7.41}, {'connected_gene': 'SNORD12', 'score': 0.44}, {'connected_gene': 'LOC105372649', 'score': 0.29}]
chr20 GH20I049290 49290032 49291310 0.77 [{'connected_gene': 'DDX27', 'score': 31.31}, {'connected_gene': 'CSE1L', 'score': 25.58}, {'connected_gene': 'ZNFX1', 'score': 12.63}, {'connected_gene': 'SNORD12B', 'score': 11.44}, {'connected_gene': 'SNORD12', 'score': 0.44}, {'connected_gene': 'ZFAS1', 'score': 0.39}, {'connected_gene': 'LOC105372649', 'score': 0.31}]
chr20 GH20I049287 49286493 49289653 0.94 [{'connected_gene': 'DDX27', 'score': 46.58}, {'connected_gene': 'SNORD12B', 'score': 19.67}, {'connected_gene': 'ZNFX1', 'score': 12.67}, {'connected_gene': 'CSE1L', 'score': 12.63}, {'connected_gene': 'KRT18P4', 'score': 10.68}, {'connected_gene': 'ZFAS1', 'score': 10.65}, {'connected_gene': 'SNORD12', 'score': 0.44}, {'connected_gene': 'LOC105372649', 'score': 0.29}]
chr20 GH20I049269 49269820 49270999 0.43 [{'connected_gene': 'ZFAS1', 'score': 12.08}, {'connected_gene': 'STAU1', 'score': 10.97}, {'connected_gene': 'ZNFX1', 'score': 0.44}, {'connected_gene': 'PIR47156', 'score': 0.44}]
chr20 GH20I049671 49671293 49682991 1.98 [{'connected_gene': 'SLC9A8', 'score': 33.55}, {'connected_gene': 'B4GALT5', 'score': 32.46}, {'connected_gene': 'RNF114', 'score': 16.05}, {'connected_gene': 'ZNFX1', 'score': 14.35}, {'connected_gene': 'RNU6-919P', 'score': 11.05}, {'connected_gene': 'SNAI1', 'score': 10.86}, {'connected_gene': 'DDX27', 'score': 10.51}, {'connected_gene': 'TMEM189', 'score': 2.53}, {'connected_gene': 'GC20M049705', 'score': 0.29}, {'connected_gene': 'GC20M049629', 'score': 0.25}]
chr20 GH20I049698 49698002 49703800 1.67 [{'connected_gene': 'SLC9A8', 'score': 28.56}, {'connected_gene': 'SNAI1', 'score': 22.05}, {'connected_gene': 'B4GALT5', 'score': 21.39}, {'connected_gene': 'ZNFX1', 'score': 15.08}, {'connected_gene': 'CEBPB', 'score': 11.15}, {'connected_gene': 'TMEM189', 'score': 2.95}, {'connected_gene': 'RNF114', 'score': 1.87}, {'connected_gene': 'GC20M049705', 'score': 0.44}, {'connected_gene': 'GC20M049629', 'score': 0.2}]
chr20 GH20I049710 49710831 49711713 1.16 [{'connected_gene': 'SLC9A8', 'score': 28.44}, {'connected_gene': 'SNAI1', 'score': 24.22}, {'connected_gene': 'B4GALT5', 'score': 22.94}, {'connected_gene': 'ZNFX1', 'score': 14.96}, {'connected_gene': 'CEBPB', 'score': 11.5}, {'connected_gene': 'TMEM189', 'score': 3.3}, {'connected_gene': 'RNF114', 'score': 1.77}, {'connected_gene': 'GC20M049705', 'score': 0.77}]
chr20 GH20I049717 49717344 49718724 1.57 [{'connected_gene': 'SLC9A8', 'score': 19.67}, {'connected_gene': 'SNAI1', 'score': 19.05}, {'connected_gene': 'B4GALT5', 'score': 18.16}, {'connected_gene': 'CEBPB', 'score': 11.77}, {'connected_gene': 'ZNFX1', 'score': 9.82}, {'connected_gene': 'TMEM189', 'score': 2.5}, {'connected_gene': 'RNF114', 'score': 1.66}, {'connected_gene': 'RN7SL197P', 'score': 0.77}]
chr20 GH20I049762 49762884 49777613 1.89 [{'connected_gene': 'SLC9A8', 'score': 36.94}, {'connected_gene': 'SNAI1', 'score': 16.2}, {'connected_gene': 'DDX27', 'score': 15.45}, {'connected_gene': 'B4GALT5', 'score': 15.03}, {'connected_gene': 'CEBPB', 'score': 14.07}, {'connected_gene': 'RNU6-919P', 'score': 13.52}, {'connected_gene': 'ZNFX1', 'score': 12.72}, {'connected_gene': 'ARFGEF2', 'score': 10.45}, {'connected_gene': 'KCNB1', 'score': 10.03}, {'connected_gene': 'KRT18P4', 'score': 9.87}, {'connected_gene': 'RNF114', 'score': 2.19}, {'connected_gene': 'TMEM189', 'score': 2.01}, {'connected_gene': 'LOC105372652', 'score': 0.44}, {'connected_gene': 'GC20P049744', 'score': 0.31}]
chr20 GH20I049696 49696492 49697799 1.24 [{'connected_gene': 'SLC9A8', 'score': 24.42}, {'connected_gene': 'ZNFX1', 'score': 13.28}, {'connected_gene': 'B4GALT5', 'score': 11.82}, {'connected_gene': 'RNU6-919P', 'score': 11.25}, {'connected_gene': 'SNAI1', 'score': 9.6}, {'connected_gene': 'CEBPB', 'score': 6.99}, {'connected_gene': 'TMEM189', 'score': 2.07}, {'connected_gene': 'GC20M049705', 'score': 0.39}, {'connected_gene': 'GC20M049629', 'score': 0.2}]
chr20 GH20I049694 49694201 49695329 1.38 [{'connected_gene': 'SLC9A8', 'score': 18.76}, {'connected_gene': 'RNU6-919P', 'score': 10.87}, {'connected_gene': 'ZNFX1', 'score': 10.8}, {'connected_gene': 'B4GALT5', 'score': 8.07}, {'connected_gene': 'CEBPB', 'score': 3.56}, {'connected_gene': 'SNAI1', 'score': 2.9}, {'connected_gene': 'TMEM189', 'score': 1.34}, {'connected_gene': 'GC20M049705', 'score': 0.39}, {'connected_gene': 'GC20M049629', 'score': 0.21}]
chr20 GH20I049166 49166171 49168573 1.08 [{'connected_gene': 'CSE1L', 'score': 28.25}, {'connected_gene': 'PREX1', 'score': 5.24}, {'connected_gene': 'ZNFX1', 'score': 1.57}, {'connected_gene': 'PIR47119', 'score': 0.37}, {'connected_gene': 'STAU1', 'score': 0.34}]
chr20 GH20I048928 48928635 48931240 1.38 [{'connected_gene': 'CSE1L', 'score': 11.09}, {'connected_gene': 'PREX1', 'score': 10.94}, {'connected_gene': 'DDX27', 'score': 10.52}, {'connected_gene': 'ARFGEF2', 'score': 9.65}, {'connected_gene': 'ZNFX1', 'score': 1.19}, {'connected_gene': 'GC20P048935', 'score': 0.44}]
chr20 GH20I049236 49236972 49238346 0.31 [{'connected_gene': 'CSE1L', 'score': 12.64}, {'connected_gene': 'ZNFX1', 'score': 12.19}, {'connected_gene': 'SNORD12C', 'score': 12.19}, {'connected_gene': 'ZFAS1', 'score': 12.19}, {'connected_gene': 'SNORD12', 'score': 12.19}, {'connected_gene': 'SNORD12B', 'score': 12.19}, {'connected_gene': 'STAU1', 'score': 10.72}, {'connected_gene': 'PIR41098', 'score': 0.44}, {'connected_gene': 'DDX27', 'score': 0.37}]
chr20 GH20I049267 49267098 49269103 0.92 [{'connected_gene': 'CSE1L', 'score': 36.97}, {'connected_gene': 'DDX27', 'score': 12.51}, {'connected_gene': 'STAU1', 'score': 10.98}, {'connected_gene': 'ZFAS1', 'score': 10.64}, {'connected_gene': 'RNF114', 'score': 9.83}, {'connected_gene': 'PIR47156', 'score': 0.44}, {'connected_gene': 'ZNFX1', 'score': 0.39}]
chr20 GH20I049045 49045359 49048356 2.09 [{'connected_gene': 'CSE1L', 'score': 598.94}, {'connected_gene': 'CSE1L-AS1', 'score': 550.77}, {'connected_gene': 'DDX27', 'score': 36.84}, {'connected_gene': 'RNF114', 'score': 12.34}, {'connected_gene': 'SNORD12B', 'score': 11.29}, {'connected_gene': 'ZNFX1', 'score': 11.12}, {'connected_gene': 'ZFAS1', 'score': 10.21}, {'connected_gene': 'ARFGEF2', 'score': 10.04}, {'connected_gene': 'SNORD12', 'score': 9.84}, {'connected_gene': 'GC20P049089', 'score': 0.26}]
chr20 GH20I048845 48845104 48847347 1.41 [{'connected_gene': 'ARFGEF2', 'score': 11.53}, {'connected_gene': 'PREX1', 'score': 9.17}, {'connected_gene': 'STAU1', 'score': 4.77}, {'connected_gene': 'ZNFX1', 'score': 2.15}, {'connected_gene': 'LOC105372648', 'score': 0.26}]
chr20 GH20I050026 50026736 50032012 1.62 [{'connected_gene': 'LOC105372654', 'score': 550.77}, {'connected_gene': 'DDX27', 'score': 32.14}, {'connected_gene': 'ADNP', 'score': 23.6}, {'connected_gene': 'ENSG00000232043', 'score': 21.79}, {'connected_gene': 'DPM1', 'score': 20.55}, {'connected_gene': 'PSMD10P1', 'score': 18.97}, {'connected_gene': 'PTPN1', 'score': 16.44}, {'connected_gene': 'ZNFX1', 'score': 11.07}, {'connected_gene': 'SNAI1', 'score': 10.88}, {'connected_gene': 'SPATA2', 'score': 10.31}, {'connected_gene': 'CEBPB', 'score': 8.68}, {'connected_gene': 'SLC9A8', 'score': 4.88}, {'connected_gene': 'B4GALT5', 'score': 3.41}, {'connected_gene': 'TMEM189', 'score': 2.16}]
chr20 GH20I049246 49246564 49246753 0.79 [{'connected_gene': 'PIR41098', 'score': 550.77}, {'connected_gene': 'ZNFX1', 'score': 11.5}, {'connected_gene': 'SNORD12B', 'score': 11.5}, {'connected_gene': 'SNORD12', 'score': 11.5}, {'connected_gene': 'STAU1', 'score': 10.73}, {'connected_gene': 'ZFAS1', 'score': 7.41}, {'connected_gene': 'DDX27', 'score': 0.31}]

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