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
ENST00000321358 [[43148097, 43148402], [43149073, 43149137], [43159160, 43159194], [43161869, 43161959], [43162312, 43162615], [43162850, 43162933], [43166451, 43166717], [43167651, 43168020]] [[43148236, 43148402], [43149073, 43149137], [43159160, 43159194], [43161869, 43161959], [43162312, 43162615], [43162850, 43162933], [43166451, 43166686]]
ENST00000332220 [[43148110, 43148402], [43149073, 43149137], [43159160, 43159194], [43162312, 43162615], [43162850, 43162933]] [[43148236, 43148402], [43149073, 43149137], [43159160, 43159194], [43162312, 43162615], [43162850, 43162933]]
ENST00000436427 [[43148657, 43149036], [43159160, 43159194], [43161869, 43161959], [43162312, 43162615], [43162850, 43162933], [43166451, 43166717], [43167651, 43168020]] [[43148657, 43149036], [43159160, 43159194], [43161869, 43161959], [43162312, 43162615], [43162850, 43162933], [43166451, 43166686]]
ENST00000467957 [[43148826, 43149137], [43159160, 43159194], [43161869, 43161959], [43162312, 43162615], [43162850, 43162882]] None
NM_004559 [[43147905, 43148402], [43149073, 43149137], [43159160, 43159194], [43161869, 43161959], [43162312, 43162615], [43162850, 43162933], [43166451, 43166717], [43167651, 43169474]] [[43148236, 43148402], [43149073, 43149137], [43159160, 43159194], [43161869, 43161959], [43162312, 43162615], [43162850, 43162933], [43166451, 43166686]]
NR_132737 [[43148657, 43149036], [43159160, 43159194], [43161869, 43161959], [43162312, 43162615], [43162850, 43162933], [43166451, 43166717], [43167651, 43169474]] None
Promoter
Chrom Start End Description
chr1 43147814 43147820 CAGE_peak_20_at_YBX1_5end
chr1 43147829 43147842 CAGE_peak_15_at_YBX1_5end
chr1 43147846 43147862 CAGE_peak_17_at_YBX1_5end
chr1 43147867 43147894 CAGE_peak_10_at_YBX1_5end
chr1 43148029 43148040 CAGE_peak_7_at_YBX1_5end
chr1 43148059 43148108 CAGE_peak_1_at_YBX1_5end
chr1 43148244 43148275 CAGE_peak_5_at_YBX1_5end
chr1 43148625 43148710 CAGE_peak_3_at_YBX1_5end
chr1 43148716 43148756 CAGE_peak_6_at_YBX1_5end
chr1 43148792 43148849 CAGE_peak_2_at_YBX1_5end
chr1 43148855 43148908 CAGE_peak_4_at_YBX1_5end
chr1 43162358 43162369 CAGE_peak_11_at_YBX1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I042430 42430513 42432181 0.59 [{'connected_gene': 'ZMYND12', 'score': 25.89}, {'connected_gene': 'PPCS', 'score': 10.99}, {'connected_gene': 'RNU6-536P', 'score': 10.56}, {'connected_gene': 'ENSG00000236180', 'score': 10.56}, {'connected_gene': 'CCDC30', 'score': 10.4}, {'connected_gene': 'P3H1', 'score': 9.28}, {'connected_gene': 'YBX1', 'score': 8.87}, {'connected_gene': 'PIR31959', 'score': 0.39}]
chr1 GH01I042339 42339364 42341449 0.9 [{'connected_gene': 'ZMYND12', 'score': 14.96}, {'connected_gene': 'P3H1', 'score': 10.32}, {'connected_gene': 'RNU6-536P', 'score': 10.21}, {'connected_gene': 'ENSG00000236180', 'score': 10.2}, {'connected_gene': 'PPCS', 'score': 10.08}, {'connected_gene': 'GUCA2B', 'score': 9.95}, {'connected_gene': 'PPIH', 'score': 9.53}, {'connected_gene': 'YBX1', 'score': 9.46}, {'connected_gene': 'CCDC30', 'score': 9.43}, {'connected_gene': 'ENSG00000227527', 'score': 0.77}, {'connected_gene': 'GC01M042316', 'score': 0.34}]
chr1 GH01I042419 42419186 42421801 0.74 [{'connected_gene': 'ZMYND12', 'score': 24.65}, {'connected_gene': 'SVBP', 'score': 16.83}, {'connected_gene': 'PPIH', 'score': 13.84}, {'connected_gene': 'PPCS', 'score': 10.76}, {'connected_gene': 'RNU6-536P', 'score': 10.67}, {'connected_gene': 'ENSG00000236180', 'score': 10.66}, {'connected_gene': 'CLDN19', 'score': 9.92}, {'connected_gene': 'YBX1', 'score': 9.43}, {'connected_gene': 'PIR31959', 'score': 0.77}, {'connected_gene': 'RIMKLA', 'score': 0.28}]
chr1 GH01I042440 42440030 42440219 0.64 [{'connected_gene': 'CCDC30', 'score': 11.14}, {'connected_gene': 'RNU6-536P', 'score': 10.21}, {'connected_gene': 'ENSG00000236180', 'score': 10.2}, {'connected_gene': 'PPIH', 'score': 9.78}, {'connected_gene': 'YBX1', 'score': 9.48}, {'connected_gene': 'PPCS', 'score': 0.37}, {'connected_gene': 'ZMYND12', 'score': 0.37}, {'connected_gene': 'PIR31959', 'score': 0.34}]
chr1 GH01I042737 42737143 42737800 0.63 [{'connected_gene': 'P3H1', 'score': 12.01}, {'connected_gene': 'C1orf50', 'score': 11.58}, {'connected_gene': 'YBX1', 'score': 10.31}, {'connected_gene': 'CLDN19', 'score': 0.77}, {'connected_gene': 'GC01M042732', 'score': 0.39}, {'connected_gene': 'GC01M042747', 'score': 0.39}, {'connected_gene': 'GC01P042719', 'score': 0.37}, {'connected_gene': 'GC01M042733', 'score': 0.2}]
chr1 GH01I042845 42845768 42848146 2.05 [{'connected_gene': 'ZNF691', 'score': 556.71}, {'connected_gene': 'ENSG00000228192', 'score': 550.77}, {'connected_gene': 'SZT2', 'score': 24.51}, {'connected_gene': 'FOXJ3', 'score': 22.87}, {'connected_gene': 'YBX1', 'score': 16.52}, {'connected_gene': 'CCDC30', 'score': 10.08}, {'connected_gene': 'PPIH', 'score': 9.84}, {'connected_gene': 'ERMAP', 'score': 9.78}, {'connected_gene': 'PIR46792', 'score': 0.39}]
chr1 GH01I042680 42680504 42684556 2.08 [{'connected_gene': 'YBX1', 'score': 550.77}, {'connected_gene': 'SZT2', 'score': 59.39}, {'connected_gene': 'PPIH', 'score': 38.8}, {'connected_gene': 'P3H1', 'score': 25.2}, {'connected_gene': 'SVBP', 'score': 14.71}, {'connected_gene': 'MED8', 'score': 12.56}, {'connected_gene': 'ZNF691', 'score': 11.75}, {'connected_gene': 'FOXJ3', 'score': 11.56}, {'connected_gene': 'KDM4A', 'score': 11.5}, {'connected_gene': 'HYI', 'score': 10.5}, {'connected_gene': 'CLDN19', 'score': 4.12}, {'connected_gene': 'ENSG00000234917', 'score': 0.77}, {'connected_gene': 'GC01P042719', 'score': 0.28}]
chr1 GH01I042688 42688812 42688819 0.2 [{'connected_gene': 'YBX1', 'score': 0.44}, {'connected_gene': 'GC01P042719', 'score': 0.29}]
chr1 GH01I042687 42686490 42686639 0.73 [{'connected_gene': 'YBX1', 'score': 0.77}, {'connected_gene': 'GC01P042719', 'score': 0.29}]
chr1 GH01I042929 42929870 42948855 1.79 [{'connected_gene': 'SLC2A1-AS1', 'score': 41.65}, {'connected_gene': 'HYI', 'score': 13.36}, {'connected_gene': 'SZT2', 'score': 12.58}, {'connected_gene': 'ARTN', 'score': 12.4}, {'connected_gene': 'RNU6-880P', 'score': 11.5}, {'connected_gene': 'FOXJ3', 'score': 10.04}, {'connected_gene': 'C1orf210', 'score': 6.68}, {'connected_gene': 'ERMAP', 'score': 3.31}, {'connected_gene': 'CCDC30', 'score': 3.18}, {'connected_gene': 'YBX1', 'score': 1.86}, {'connected_gene': 'SVBP', 'score': 1.77}, {'connected_gene': 'SLC2A1', 'score': 1.53}, {'connected_gene': 'ENSG00000284138', 'score': 0.39}, {'connected_gene': 'ATP6V1E1P1', 'score': 0.28}]
chr1 GH01I042686 42686830 42686979 0.65 [{'connected_gene': 'SVBP', 'score': 14.81}, {'connected_gene': 'YBX1', 'score': 0.77}, {'connected_gene': 'GC01P042719', 'score': 0.29}]
chr1 GH01I042598 42598054 42598425 0.34 [{'connected_gene': 'SVBP', 'score': 18.89}, {'connected_gene': 'RNU6-536P', 'score': 11.11}, {'connected_gene': 'ENSG00000236180', 'score': 11.11}, {'connected_gene': 'PPIH', 'score': 10.57}, {'connected_gene': 'P3H1', 'score': 10.28}, {'connected_gene': 'YBX1', 'score': 10.05}, {'connected_gene': 'CLDN19', 'score': 10.01}, {'connected_gene': 'CCDC30', 'score': 1.9}, {'connected_gene': 'RIMKLA', 'score': 1.23}, {'connected_gene': 'GC01M042626', 'score': 0.29}]
chr1 GH01I042689 42689711 42694665 0.72 [{'connected_gene': 'SVBP', 'score': 13.78}, {'connected_gene': 'PPIH', 'score': 13.51}, {'connected_gene': 'C1orf50', 'score': 9.99}, {'connected_gene': 'ZMYND12', 'score': 7.0}, {'connected_gene': 'YBX1', 'score': 0.44}, {'connected_gene': 'GC01P042719', 'score': 0.31}]
chr1 GH01I042222 42222189 42222919 0.82 [{'connected_gene': 'GUCA2B', 'score': 11.04}, {'connected_gene': 'PPCS', 'score': 9.99}, {'connected_gene': 'ZMYND12', 'score': 9.99}, {'connected_gene': 'YBX1', 'score': 9.22}, {'connected_gene': 'GC01P042164', 'score': 0.22}, {'connected_gene': 'GC01M042279', 'score': 0.22}, {'connected_gene': 'PIR49391', 'score': 0.22}, {'connected_gene': 'FOXJ3', 'score': 0.14}]
chr1 GH01I042333 42333201 42337730 2.14 [{'connected_gene': 'FOXJ3', 'score': 568.35}, {'connected_gene': 'GC01P042336', 'score': 550.77}, {'connected_gene': 'GC01P042337', 'score': 550.77}, {'connected_gene': 'CCDC30', 'score': 30.13}, {'connected_gene': 'P3H1', 'score': 20.52}, {'connected_gene': 'PPIH', 'score': 19.45}, {'connected_gene': 'CLDN19', 'score': 10.41}, {'connected_gene': 'GUCA2B', 'score': 10.34}, {'connected_gene': 'RNU6-536P', 'score': 9.85}, {'connected_gene': 'ENSG00000236180', 'score': 9.85}, {'connected_gene': 'LOC105378683', 'score': 9.73}, {'connected_gene': 'YBX1', 'score': 9.5}, {'connected_gene': 'EDN2', 'score': 4.3}, {'connected_gene': 'ENSG00000227527', 'score': 0.77}, {'connected_gene': 'GC01M042316', 'score': 0.31}, {'connected_gene': 'GC01M042279', 'score': 0.22}, {'connected_gene': 'PIR49391', 'score': 0.22}]
chr1 GH01I042308 42308997 42309130 0.23 [{'connected_gene': 'RNU6-536P', 'score': 10.44}, {'connected_gene': 'ENSG00000236180', 'score': 10.44}, {'connected_gene': 'YBX1', 'score': 9.39}, {'connected_gene': 'PPIH', 'score': 9.12}, {'connected_gene': 'FOXJ3', 'score': 7.38}, {'connected_gene': 'RIMKLA', 'score': 1.7}, {'connected_gene': 'CCDC30', 'score': 1.67}, {'connected_gene': 'ZMYND12', 'score': 1.19}, {'connected_gene': 'GC01M042279', 'score': 0.29}, {'connected_gene': 'PIR49391', 'score': 0.29}]
chr1 GH01I042484 42484332 42485139 0.46 [{'connected_gene': 'PPIH', 'score': 25.76}, {'connected_gene': 'ZMYND12', 'score': 21.8}, {'connected_gene': 'CCDC30', 'score': 15.02}, {'connected_gene': 'PPCS', 'score': 10.9}, {'connected_gene': 'RNU6-536P', 'score': 10.86}, {'connected_gene': 'ENSG00000236180', 'score': 10.85}, {'connected_gene': 'CLDN19', 'score': 9.5}, {'connected_gene': 'YBX1', 'score': 9.35}, {'connected_gene': 'RPS3AP11', 'score': 0.44}]
chr1 GH01I042735 42735510 42735659 0.31 [{'connected_gene': 'PPIH', 'score': 16.22}, {'connected_gene': 'P3H1', 'score': 11.99}, {'connected_gene': 'C1orf50', 'score': 11.56}, {'connected_gene': 'YBX1', 'score': 10.32}, {'connected_gene': 'CLDN19', 'score': 0.77}, {'connected_gene': 'GC01M042732', 'score': 0.39}, {'connected_gene': 'GC01M042747', 'score': 0.39}, {'connected_gene': 'GC01P042719', 'score': 0.37}, {'connected_gene': 'GC01M042733', 'score': 0.19}]
chr1 GH01I042784 42784682 42785800 0.66 [{'connected_gene': 'TMEM269', 'score': 550.77}, {'connected_gene': 'LOC105378683', 'score': 550.77}, {'connected_gene': 'SVBP', 'score': 38.22}, {'connected_gene': 'ZMYND12', 'score': 25.46}, {'connected_gene': 'CFAP57', 'score': 16.3}, {'connected_gene': 'YBX1', 'score': 4.7}, {'connected_gene': 'ENSG00000283580', 'score': 0.37}, {'connected_gene': 'GC01M042733', 'score': 0.34}]
chr1 GH01I042806 42806881 42808076 0.38 [{'connected_gene': 'GC01M042733', 'score': 550.77}, {'connected_gene': 'P3H1', 'score': 11.33}, {'connected_gene': 'ZNF691', 'score': 10.47}, {'connected_gene': 'ENSG00000228192', 'score': 10.47}, {'connected_gene': 'YBX1', 'score': 9.56}, {'connected_gene': 'SVBP', 'score': 5.16}, {'connected_gene': 'ERMAP', 'score': 0.44}, {'connected_gene': 'TMEM269', 'score': 0.34}]
chr1 GH01I042720 42720718 42721460 0.43 [{'connected_gene': 'GC01P042719', 'score': 550.77}, {'connected_gene': 'P3H1', 'score': 18.47}, {'connected_gene': 'PPIH', 'score': 10.93}, {'connected_gene': 'YBX1', 'score': 10.78}, {'connected_gene': 'CLDN19', 'score': 0.37}]
chr1 GH01I042678 42678972 42680264 0.49 [{'connected_gene': 'ENSG00000234917', 'score': 550.77}, {'connected_gene': 'SVBP', 'score': 14.81}, {'connected_gene': 'PPIH', 'score': 4.6}, {'connected_gene': 'YBX1', 'score': 0.77}]