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
ENST00000336617 [[51483813, 51484276], [51501542, 51501614], [51503610, 51503718], [51504818, 51504895], [51509020, 51509135], [51517456, 51517530], [51519562, 51519668], [51522122, 51522204], [51523598, 51523641], [51528040, 51528121], [51530493, 51530901]] [[51484212, 51484276], [51501542, 51501614], [51503610, 51503718], [51504818, 51504895], [51509020, 51509135], [51517456, 51517530], [51519562, 51519668], [51522122, 51522204], [51523598, 51523641], [51528040, 51528121], [51530493, 51530610]]
ENST00000422660 [[51483891, 51484276], [51501542, 51501614], [51503610, 51503718], [51504818, 51504895], [51509020, 51509135], [51517456, 51517530], [51519562, 51519668], [51522122, 51522204], [51523598, 51523641], [51544067, 51544592]] [[51484212, 51484276], [51501542, 51501614], [51503610, 51503718], [51504818, 51504895], [51509020, 51509135], [51517456, 51517530], [51519562, 51519668], [51522122, 51522204], [51523598, 51523641], [51544067, 51544100]]
ENST00000495244 [[51502497, 51502644], [51503610, 51503718], [51504818, 51504895], [51509020, 51509135], [51517456, 51517530], [51519562, 51519668], [51522122, 51522204], [51523598, 51523641], [51528040, 51528121], [51530493, 51530631]] None
ENST00000459681 [[51504249, 51504291], [51504818, 51504895]] None
ENST00000465541 [[51523617, 51523641], [51524206, 51524454], [51528040, 51528121], [51530493, 51530638]] None
NM_024570 [[51483813, 51484276], [51501542, 51501614], [51503610, 51503718], [51504818, 51504895], [51509020, 51509135], [51517456, 51517530], [51519562, 51519668], [51522122, 51522204], [51523598, 51523641], [51528040, 51528121], [51530493, 51530901]] [[51484212, 51484276], [51501542, 51501614], [51503610, 51503718], [51504818, 51504895], [51509020, 51509135], [51517456, 51517530], [51519562, 51519668], [51522122, 51522204], [51523598, 51523641], [51528040, 51528121], [51530493, 51530610]]
NM_001142279 [[51483813, 51484276], [51501542, 51501614], [51503610, 51503718], [51504818, 51504895], [51509020, 51509135], [51517456, 51517530], [51519562, 51519668], [51522122, 51522204], [51523598, 51523641], [51544067, 51544596]] [[51484212, 51484276], [51501542, 51501614], [51503610, 51503718], [51504818, 51504895], [51509020, 51509135], [51517456, 51517530], [51519562, 51519668], [51522122, 51522204], [51523598, 51523641], [51544067, 51544100]]
Promoter
Chrom Start End Description
chr13 51483881 51483935 CAGE_peak_1_at_RNASEH2B_5end
chr13 51483942 51483963 CAGE_peak_4_at_RNASEH2B_5end
chr13 51483983 51483994 CAGE_peak_5_at_RNASEH2B_5end
chr13 51484041 51484052 CAGE_peak_8_at_RNASEH2B_5end
chr13 51484119 51484151 CAGE_peak_3_at_RNASEH2B_5end
chr13 51484154 51484216 CAGE_peak_2_at_RNASEH2B_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I050115 50115335 50115839 0.38 [{'connected_gene': 'SETDB2', 'score': 15.46}, {'connected_gene': 'TRIM13', 'score': 12.96}, {'connected_gene': 'DLEU1', 'score': 12.37}, {'connected_gene': 'KCNRG', 'score': 11.63}, {'connected_gene': 'RNASEH2B-AS1', 'score': 10.89}, {'connected_gene': 'RNASEH2B', 'score': 10.89}, {'connected_gene': 'KPNA3', 'score': 9.26}, {'connected_gene': 'ENSG00000273541', 'score': 0.39}, {'connected_gene': 'DLEU2', 'score': 0.39}]
chr13 GH13I050207 50207899 50210141 1.37 [{'connected_gene': 'SETDB2', 'score': 14.99}, {'connected_gene': 'RPL34P26', 'score': 10.57}, {'connected_gene': 'RNASEH2B', 'score': 10.28}, {'connected_gene': 'TRIM13', 'score': 10.0}, {'connected_gene': 'DLEU7', 'score': 9.63}, {'connected_gene': 'EBPL', 'score': 4.16}, {'connected_gene': 'GC13P050221', 'score': 0.39}, {'connected_gene': 'GC13P050185', 'score': 0.34}, {'connected_gene': 'DLEU1', 'score': 0.13}]
chr13 GH13I051600 51600201 51600800 0.51 [{'connected_gene': 'DHRS12', 'score': 10.75}, {'connected_gene': 'ENSG00000231856', 'score': 10.75}, {'connected_gene': 'RNASEH2B', 'score': 4.53}, {'connected_gene': 'ATP5PBP1', 'score': 0.77}, {'connected_gene': 'WDFY2', 'score': 0.37}, {'connected_gene': 'PIR45932', 'score': 0.1}]
chr13 GH13I050945 50945439 50947536 0.43 [{'connected_gene': 'RNASEH2B', 'score': 5.28}, {'connected_gene': 'INTS6', 'score': 4.64}, {'connected_gene': 'GC13M050955', 'score': 0.44}, {'connected_gene': 'GC13M050954', 'score': 0.44}, {'connected_gene': 'GC13P050938', 'score': 0.44}]
chr13 GH13I050876 50876990 50878106 0.2 [{'connected_gene': 'RNASEH2B', 'score': 22.4}, {'connected_gene': 'DLEU7', 'score': 12.18}, {'connected_gene': 'RNASEH2B-AS1', 'score': 11.7}, {'connected_gene': 'DLEU7-AS1', 'score': 11.06}, {'connected_gene': 'INTS6', 'score': 4.76}, {'connected_gene': 'GC13P050857', 'score': 0.34}]
chr13 GH13I050880 50880647 50881293 0.2 [{'connected_gene': 'RNASEH2B', 'score': 17.07}, {'connected_gene': 'DLEU7', 'score': 11.49}, {'connected_gene': 'RNASEH2B-AS1', 'score': 11.24}, {'connected_gene': 'DLEU7-AS1', 'score': 10.46}, {'connected_gene': 'GC13P050857', 'score': 0.34}]
chr13 GH13I050897 50897823 50898699 0.38 [{'connected_gene': 'RNASEH2B', 'score': 24.15}, {'connected_gene': 'DLEU7', 'score': 10.87}, {'connected_gene': 'DLEU7-AS1', 'score': 10.3}, {'connected_gene': 'KCNRG', 'score': 9.36}, {'connected_gene': 'RNASEH2B-AS1', 'score': 0.39}, {'connected_gene': 'GC13P050857', 'score': 0.26}]
chr13 GH13I050901 50901334 50904937 0.2 [{'connected_gene': 'RNASEH2B', 'score': 37.58}, {'connected_gene': 'DLEU7', 'score': 10.74}, {'connected_gene': 'DLEU7-AS1', 'score': 10.29}, {'connected_gene': 'RNASEH2B-AS1', 'score': 0.44}, {'connected_gene': 'GC13P050857', 'score': 0.25}]
chr13 GH13I050865 50865858 50868258 0.59 [{'connected_gene': 'RNASEH2B', 'score': 34.19}, {'connected_gene': 'RNASEH2B-AS1', 'score': 15.12}, {'connected_gene': 'SERPINE3', 'score': 10.97}, {'connected_gene': 'RPS4XP16', 'score': 10.14}, {'connected_gene': 'GC13P050857', 'score': 0.44}]
chr13 GH13I050885 50885117 50886268 0.2 [{'connected_gene': 'RNASEH2B', 'score': 28.7}, {'connected_gene': 'RNASEH2B-AS1', 'score': 11.6}, {'connected_gene': 'DLEU7', 'score': 11.23}, {'connected_gene': 'INTS6', 'score': 5.52}, {'connected_gene': 'GC13P050857', 'score': 0.31}]
chr13 GH13I050908 50908109 50918118 2.69 [{'connected_gene': 'RNASEH2B', 'score': 617.54}, {'connected_gene': 'RNASEH2B-AS1', 'score': 27.57}, {'connected_gene': 'DLEU7-AS1', 'score': 10.78}, {'connected_gene': 'DLEU7', 'score': 10.69}, {'connected_gene': 'KCNRG', 'score': 10.44}, {'connected_gene': 'SERPINE3', 'score': 10.23}, {'connected_gene': 'TRIM13', 'score': 10.11}, {'connected_gene': 'RPS4XP16', 'score': 9.93}, {'connected_gene': 'INTS6', 'score': 4.74}, {'connected_gene': 'GC13M050919', 'score': 0.39}]
chr13 GH13I050940 50940915 50942517 0.52 [{'connected_gene': 'RNASEH2B', 'score': 44.42}, {'connected_gene': 'RNASEH2B-AS1', 'score': 27.14}, {'connected_gene': 'GC13P050938', 'score': 0.77}, {'connected_gene': 'GC13M050955', 'score': 0.39}, {'connected_gene': 'GC13M050954', 'score': 0.39}]
chr13 GH13I050930 50929380 50930273 0.38 [{'connected_gene': 'RNASEH2B', 'score': 6.6}, {'connected_gene': 'GC13M050919', 'score': 0.77}, {'connected_gene': 'GC13P050938', 'score': 0.44}]
chr13 GH13I051315 51315058 51316354 0.82 [{'connected_gene': 'ALG11', 'score': 35.64}, {'connected_gene': 'INTS6', 'score': 18.61}, {'connected_gene': 'SERPINE3', 'score': 12.26}, {'connected_gene': 'UTP14C', 'score': 11.4}, {'connected_gene': 'FAM124A', 'score': 11.15}, {'connected_gene': 'RNASEH2B', 'score': 10.3}, {'connected_gene': 'GC13P051260', 'score': 0.23}]
chr13 GH13I050051 50051775 50057026 0.57 [{'connected_gene': 'KCNRG', 'score': 12.81}, {'connected_gene': 'DLEU1', 'score': 11.83}, {'connected_gene': 'EBPL', 'score': 8.5}, {'connected_gene': 'TRIM13', 'score': 4.47}, {'connected_gene': 'RNASEH2B', 'score': 4.23}, {'connected_gene': 'GC13M050053', 'score': 0.77}, {'connected_gene': 'ENSG00000273612', 'score': 0.39}, {'connected_gene': 'DLEU2', 'score': 0.19}]
chr13 GH13I050918 50918601 50919000 0.4 [{'connected_gene': 'KCNRG', 'score': 10.61}, {'connected_gene': 'RNASEH2B-AS1', 'score': 0.44}, {'connected_gene': 'RNASEH2B', 'score': 0.44}, {'connected_gene': 'GC13M050919', 'score': 0.44}]
chr13 GH13I050919 50919401 50919800 0.58 [{'connected_gene': 'KCNRG', 'score': 10.61}, {'connected_gene': 'RNASEH2B-AS1', 'score': 0.44}, {'connected_gene': 'RNASEH2B', 'score': 0.44}, {'connected_gene': 'GC13M050919', 'score': 0.44}]
chr13 GH13I050920 50920001 50920400 0.4 [{'connected_gene': 'KCNRG', 'score': 10.61}, {'connected_gene': 'RNASEH2B-AS1', 'score': 0.44}, {'connected_gene': 'GC13M050919', 'score': 0.44}, {'connected_gene': 'RNASEH2B', 'score': 0.39}]
chr13 GH13I051233 51233412 51235221 0.31 [{'connected_gene': 'FAM124A', 'score': 10.92}, {'connected_gene': 'RNASEH2B', 'score': 4.28}, {'connected_gene': 'GC13P051237', 'score': 0.77}]
chr13 GH13I050592 50592464 50596833 1.43 [{'connected_gene': 'DLEU7', 'score': 10.5}, {'connected_gene': 'EBPL', 'score': 4.78}, {'connected_gene': 'RNASEH2B', 'score': 4.56}, {'connected_gene': 'GC13P050590', 'score': 0.44}, {'connected_gene': 'GC13P050648', 'score': 0.23}, {'connected_gene': 'DLEU1', 'score': 0.03}]
chr13 GH13I050864 50864538 50865596 0.2 [{'connected_gene': 'DLEU7', 'score': 5.13}, {'connected_gene': 'GC13P050857', 'score': 0.44}, {'connected_gene': 'RNASEH2B', 'score': 0.26}, {'connected_gene': 'RNASEH2B-AS1', 'score': 0.25}]
chr13 GH13I050905 50905111 50906294 0.2 [{'connected_gene': 'DLEU7', 'score': 10.73}, {'connected_gene': 'DLEU7-AS1', 'score': 10.29}, {'connected_gene': 'RNASEH2B', 'score': 0.77}, {'connected_gene': 'RNASEH2B-AS1', 'score': 0.44}, {'connected_gene': 'GC13P050857', 'score': 0.25}]
chr13 GH13I050121 50121689 50131823 2.28 [{'connected_gene': 'DLEU2', 'score': 555.7}, {'connected_gene': 'ENSG00000274270', 'score': 550.77}, {'connected_gene': 'SETDB2', 'score': 51.06}, {'connected_gene': 'TRIM13', 'score': 34.63}, {'connected_gene': 'KCNRG', 'score': 26.25}, {'connected_gene': 'DLEU1', 'score': 25.23}, {'connected_gene': 'RNASEH2B-AS1', 'score': 23.01}, {'connected_gene': 'CTAGE10P', 'score': 13.18}, {'connected_gene': 'RNASEH2B', 'score': 11.42}, {'connected_gene': 'EBPL', 'score': 9.37}, {'connected_gene': 'ARL11', 'score': 1.93}, {'connected_gene': 'ST13P4', 'score': 0.25}]
chr13 GH13I050111 50111060 50113155 0.38 [{'connected_gene': 'DLEU1', 'score': 12.57}, {'connected_gene': 'KCNRG', 'score': 11.52}, {'connected_gene': 'RNASEH2B-AS1', 'score': 10.89}, {'connected_gene': 'RNASEH2B', 'score': 10.89}, {'connected_gene': 'DLEU7-AS1', 'score': 10.23}, {'connected_gene': 'DLEU7', 'score': 9.7}, {'connected_gene': 'KPNA3', 'score': 9.26}, {'connected_gene': 'EBPL', 'score': 8.4}, {'connected_gene': 'ENSG00000273541', 'score': 0.44}, {'connected_gene': 'DLEU2', 'score': 0.39}]
chr13 GH13I050116 50116201 50116814 0.83 [{'connected_gene': 'DLEU1', 'score': 13.09}, {'connected_gene': 'RNASEH2B-AS1', 'score': 11.35}, {'connected_gene': 'RNASEH2B', 'score': 11.35}, {'connected_gene': 'KCNRG', 'score': 10.86}, {'connected_gene': 'DLEU2', 'score': 0.44}, {'connected_gene': 'ENSG00000273541', 'score': 0.39}]
chr13 GH13I050117 50117001 50117400 0.4 [{'connected_gene': 'DLEU1', 'score': 13.08}, {'connected_gene': 'RNASEH2B-AS1', 'score': 11.35}, {'connected_gene': 'RNASEH2B', 'score': 11.35}, {'connected_gene': 'KCNRG', 'score': 10.86}, {'connected_gene': 'DLEU2', 'score': 0.44}, {'connected_gene': 'ENSG00000273541', 'score': 0.39}]
chr13 GH13I050119 50119365 50120384 0.76 [{'connected_gene': 'DLEU1', 'score': 21.46}, {'connected_gene': 'RNASEH2B-AS1', 'score': 11.35}, {'connected_gene': 'RNASEH2B', 'score': 11.35}, {'connected_gene': 'KCNRG', 'score': 10.86}, {'connected_gene': 'DLEU2', 'score': 0.44}, {'connected_gene': 'ENSG00000273541', 'score': 0.37}]
chr13 GH13I049995 49995318 49999686 2.01 [{'connected_gene': 'TRIM13', 'score': 560.54}, {'connected_gene': 'SPRYD7', 'score': 556.41}, {'connected_gene': 'MIR3613', 'score': 550.77}, {'connected_gene': 'DLEU1', 'score': 10.07}, {'connected_gene': 'EBPL', 'score': 8.41}, {'connected_gene': 'CTAGE10P', 'score': 5.97}, {'connected_gene': 'RNASEH2B', 'score': 4.09}, {'connected_gene': 'KCNRG', 'score': 0.37}, {'connected_gene': 'DLEU2', 'score': 0.13}]
chr13 GH13I049976 49976281 49976934 0.88 [{'connected_gene': 'RNASEH2B-AS1', 'score': 10.78}, {'connected_gene': 'RNASEH2B', 'score': 10.78}, {'connected_gene': 'GC13P049980', 'score': 0.77}, {'connected_gene': 'SPRYD7', 'score': 0.37}, {'connected_gene': 'GC13P049955', 'score': 0.34}]
chr13 GH13I050882 50882801 50883400 0.2 [{'connected_gene': 'RNASEH2B-AS1', 'score': 12.13}, {'connected_gene': 'RNASEH2B', 'score': 12.13}, {'connected_gene': 'DLEU7', 'score': 10.97}, {'connected_gene': 'INTS6', 'score': 5.81}, {'connected_gene': 'GC13P050857', 'score': 0.31}]
chr13 GH13I050890 50890601 50895468 1.41 [{'connected_gene': 'RNASEH2B-AS1', 'score': 18.3}, {'connected_gene': 'RNASEH2B', 'score': 14.72}, {'connected_gene': 'DLEU7', 'score': 11.25}, {'connected_gene': 'DLEU7-AS1', 'score': 11.04}, {'connected_gene': 'KCNRG', 'score': 10.1}, {'connected_gene': 'GC13P050857', 'score': 0.28}]
chr13 GH13I050899 50899633 50901046 0.31 [{'connected_gene': 'RNASEH2B-AS1', 'score': 20.06}, {'connected_gene': 'RNASEH2B', 'score': 17.97}, {'connected_gene': 'DLEU7', 'score': 10.74}, {'connected_gene': 'DLEU7-AS1', 'score': 10.3}, {'connected_gene': 'GC13P050857', 'score': 0.26}]
chr13 GH13I050799 50799874 50802094 0.89 [{'connected_gene': 'RNASEH2B-AS1', 'score': 11.37}, {'connected_gene': 'RNASEH2B', 'score': 11.37}, {'connected_gene': 'DLEU7', 'score': 10.87}, {'connected_gene': 'RPL34P26', 'score': 10.02}, {'connected_gene': 'DLEU7-AS1', 'score': 0.44}, {'connected_gene': 'GC13P050723', 'score': 0.18}]
chr13 GH13I050132 50132565 50132876 0.83 [{'connected_gene': 'RNASEH2B-AS1', 'score': 11.42}, {'connected_gene': 'RNASEH2B', 'score': 11.42}, {'connected_gene': 'ENSG00000274270', 'score': 0.44}, {'connected_gene': 'ST13P4', 'score': 0.28}, {'connected_gene': 'DLEU1', 'score': 0.23}]
chr13 GH13I050133 50132165 50132254 0.63 [{'connected_gene': 'RNASEH2B-AS1', 'score': 11.42}, {'connected_gene': 'RNASEH2B', 'score': 11.42}, {'connected_gene': 'ENSG00000274270', 'score': 0.44}, {'connected_gene': 'ST13P4', 'score': 0.28}, {'connected_gene': 'DLEU1', 'score': 0.23}]
chr13 GH13I050536 50536265 50536434 0.38 [{'connected_gene': 'RNASEH2B-AS1', 'score': 10.22}, {'connected_gene': 'RNASEH2B', 'score': 10.22}, {'connected_gene': 'GC13P050529', 'score': 0.44}, {'connected_gene': 'GC13P050590', 'score': 0.23}, {'connected_gene': 'DLEU1', 'score': 0.05}]
chr13 GH13I050809 50809863 50811965 0.89 [{'connected_gene': 'RNASEH2B-AS1', 'score': 15.48}, {'connected_gene': 'DLEU7', 'score': 11.65}, {'connected_gene': 'RNASEH2B', 'score': 11.12}, {'connected_gene': 'GC13P050809', 'score': 0.77}, {'connected_gene': 'GC13M050813', 'score': 0.77}, {'connected_gene': 'RNA5SP28', 'score': 0.77}, {'connected_gene': 'DLEU7-AS1', 'score': 0.77}]
chr13 GH13I050542 50542968 50544844 0.66 [{'connected_gene': 'RPL34P26', 'score': 10.86}, {'connected_gene': 'RNASEH2B-AS1', 'score': 10.22}, {'connected_gene': 'RNASEH2B', 'score': 10.22}, {'connected_gene': 'KCNRG', 'score': 10.1}, {'connected_gene': 'DLEU7-AS1', 'score': 10.05}, {'connected_gene': 'GC13P050529', 'score': 0.37}, {'connected_gene': 'GC13P050590', 'score': 0.25}, {'connected_gene': 'DLEU1', 'score': 0.04}]
chr13 GH13I050926 50926823 50928597 0.2 [{'connected_gene': 'GC13M050919', 'score': 550.77}, {'connected_gene': 'GC13P050938', 'score': 0.44}, {'connected_gene': 'RNASEH2B', 'score': 0.37}]
chr13 GH13I050929 50929000 50929201 0.66 [{'connected_gene': 'GC13M050919', 'score': 0.77}, {'connected_gene': 'GC13P050938', 'score': 0.44}, {'connected_gene': 'RNASEH2B', 'score': 0.37}]
chr13 GH13I050934 50934072 50934165 0.42 [{'connected_gene': 'GC13P050938', 'score': 0.77}, {'connected_gene': 'GC13M050919', 'score': 0.44}, {'connected_gene': 'RNASEH2B', 'score': 0.34}]
chr13 GH13I050526 50526224 50531228 1.31 [{'connected_gene': 'GC13P050529', 'score': 550.77}, {'connected_gene': 'DLEU1-AS1', 'score': 550.77}, {'connected_gene': 'GC13P050527', 'score': 550.77}, {'connected_gene': 'GC13P050528', 'score': 550.77}, {'connected_gene': 'RPL34P26', 'score': 10.98}, {'connected_gene': 'SERPINE3', 'score': 10.74}, {'connected_gene': 'KCNRG', 'score': 10.53}, {'connected_gene': 'RNASEH2B-AS1', 'score': 10.22}, {'connected_gene': 'RNASEH2B', 'score': 10.22}, {'connected_gene': 'DLEU7', 'score': 9.53}, {'connected_gene': 'EBPL', 'score': 4.29}, {'connected_gene': 'GC13P050590', 'score': 0.21}, {'connected_gene': 'DLEU1', 'score': 0.05}]
chr13 GH13I050812 50812175 50812658 0.46 [{'connected_gene': 'GC13M050813', 'score': 550.77}, {'connected_gene': 'RNA5SP28', 'score': 550.77}, {'connected_gene': 'DLEU7', 'score': 11.65}, {'connected_gene': 'RNASEH2B-AS1', 'score': 11.12}, {'connected_gene': 'RNASEH2B', 'score': 11.12}, {'connected_gene': 'GC13P050809', 'score': 0.77}, {'connected_gene': 'DLEU7-AS1', 'score': 0.77}]

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