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
ENST00000474805 [[50570948, 50570986], [50571802, 50571899], [50594349, 50594617]] None
ENST00000478111 [[50571154, 50571267], [50571802, 50571899], [50594349, 50594617]] None
ENST00000442421 [[50570023, 50570111], [50571802, 50571899], [50575130, 50575244], [50586070, 50586463]] [[50586076, 50586463]]
ENST00000378183 [[50570638, 50570986], [50571802, 50571899], [50586070, 50586876]] [[50586076, 50586876]]
ENST00000420995 [[50571154, 50571267], [50571802, 50571899], [50586070, 50588467]] [[50586076, 50587300]]
ENST00000378182 [[50571167, 50571899], [50586070, 50592587]] [[50586076, 50587300]]
ENST00000356017 [[50571172, 50571352], [50571802, 50571899], [50575130, 50575244], [50586070, 50587316]] [[50575241, 50575244], [50586070, 50587300]]
ENST00000457662 [[50571194, 50571352], [50571802, 50571899], [50586070, 50587304]] [[50586076, 50587300]]
ENST00000298772 [[50575241, 50575244], [50586070, 50587305]] [[50575241, 50575244], [50586070, 50587300]]
NM_005798 [[50571142, 50571267], [50571802, 50571899], [50586070, 50592603]] [[50586076, 50587300]]
NM_052811 [[50571142, 50571352], [50571802, 50571899], [50586070, 50592603]] [[50586076, 50587300]]
NM_001007278 [[50571142, 50571352], [50571802, 50571899], [50575130, 50575244], [50586070, 50592603]] [[50575241, 50575244], [50586070, 50587300]]
NM_213590 [[50571142, 50571899], [50586070, 50592603]] [[50586076, 50587300]]
Promoter
Chrom Start End Description
chr13 50570019 50570028 CAGE_peak_10_at_TRIM13_5end
chr13 50570882 50570891 CAGE_peak_7_at_TRIM13_5end
chr13 50570892 50570926 CAGE_peak_3_at_TRIM13_5end
chr13 50571160 50571229 CAGE_peak_1_at_TRIM13_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I049689 49689666 49694057 1.99 [{'connected_gene': 'EBPL', 'score': 581.38}, {'connected_gene': 'SETDB2', 'score': 15.5}, {'connected_gene': 'TRIM13', 'score': 12.89}, {'connected_gene': 'KCNRG', 'score': 11.54}, {'connected_gene': 'RCBTB1', 'score': 4.68}, {'connected_gene': 'GC13P049698', 'score': 0.44}]
chr13 GH13I049856 49856871 49860394 1.13 [{'connected_gene': 'EBPL', 'score': 16.26}, {'connected_gene': 'SPRYD7', 'score': 7.86}, {'connected_gene': 'DLEU1', 'score': 6.09}, {'connected_gene': 'CTAGE10P', 'score': 5.03}, {'connected_gene': 'TRIM13', 'score': 4.52}, {'connected_gene': 'RNY4P30', 'score': 0.29}, {'connected_gene': 'KPNA3', 'score': 0.2}]
chr13 GH13I049820 49820332 49821617 0.75 [{'connected_gene': 'EBPL', 'score': 32.78}, {'connected_gene': 'KPNA3', 'score': 11.91}, {'connected_gene': 'RCBTB1', 'score': 5.09}, {'connected_gene': 'TRIM13', 'score': 4.68}, {'connected_gene': 'RNY4P30', 'score': 0.2}]
chr13 GH13I049292 49292345 49293390 0.84 [{'connected_gene': 'SETDB2', 'score': 29.13}, {'connected_gene': 'TRIM13', 'score': 10.91}, {'connected_gene': 'CDADC1', 'score': 10.63}, {'connected_gene': 'CAB39L', 'score': 4.29}, {'connected_gene': 'GC13P049296', 'score': 0.77}, {'connected_gene': 'GC13M049248', 'score': 0.26}]
chr13 GH13I050395 50395901 50396594 0.43 [{'connected_gene': 'SETDB2', 'score': 15.46}, {'connected_gene': 'TRIM13', 'score': 12.88}, {'connected_gene': 'SERPINE3', 'score': 12.2}, {'connected_gene': 'RPL34P26', 'score': 11.87}, {'connected_gene': 'KCNRG', 'score': 11.53}, {'connected_gene': 'GC13P050401', 'score': 0.77}, {'connected_gene': 'GC13P050390', 'score': 0.44}, {'connected_gene': 'DLEU1', 'score': 0.06}]
chr13 GH13I049847 49847601 49848579 1.11 [{'connected_gene': 'SETDB2', 'score': 15.01}, {'connected_gene': 'TRIM13', 'score': 10.03}, {'connected_gene': 'DLEU1', 'score': 6.25}, {'connected_gene': 'EBPL', 'score': 5.04}, {'connected_gene': 'RNY4P30', 'score': 0.26}, {'connected_gene': 'KPNA3', 'score': 0.22}]
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 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 GH13I049934 49934830 49940676 2.25 [{'connected_gene': 'SPRYD7', 'score': 550.22}, {'connected_gene': 'TRIM13', 'score': 25.97}, {'connected_gene': 'KCNRG', 'score': 15.58}, {'connected_gene': 'SETDB2', 'score': 13.34}, {'connected_gene': 'EBPL', 'score': 9.84}, {'connected_gene': 'DLEU1', 'score': 7.65}, {'connected_gene': 'CTAGE10P', 'score': 6.9}, {'connected_gene': 'GC13P049951', 'score': 0.39}, {'connected_gene': 'GC13M049909', 'score': 0.31}, {'connected_gene': 'RNY4P9', 'score': 0.31}]
chr13 GH13I049494 49494389 49500998 2.39 [{'connected_gene': 'PHF11', 'score': 564.24}, {'connected_gene': 'SETDB2', 'score': 27.92}, {'connected_gene': 'TRIM13', 'score': 12.87}, {'connected_gene': 'KCNRG', 'score': 11.51}, {'connected_gene': 'EBPL', 'score': 10.61}, {'connected_gene': 'ARL11', 'score': 5.5}, {'connected_gene': 'RCBTB1', 'score': 0.17}, {'connected_gene': 'GC13P049390', 'score': 0.14}]
chr13 GH13I050023 50023340 50023674 0.31 [{'connected_gene': 'MIR16-1', 'score': 12.01}, {'connected_gene': 'TRIM13', 'score': 1.65}, {'connected_gene': 'RCBTB1', 'score': 1.24}, {'connected_gene': 'KCNRG', 'score': 0.44}, {'connected_gene': 'GC13M050020', 'score': 0.39}, {'connected_gene': 'DLEU2', 'score': 0.15}]
chr13 GH13I049219 49219711 49221452 1.41 [{'connected_gene': 'MLNR', 'score': 550.77}, {'connected_gene': 'SETDB2', 'score': 15.51}, {'connected_gene': 'TRIM13', 'score': 12.86}, {'connected_gene': 'KCNRG', 'score': 11.51}, {'connected_gene': 'PPP1R26P1', 'score': 10.66}, {'connected_gene': 'FNDC3A', 'score': 4.94}, {'connected_gene': 'THAP12P10', 'score': 0.39}, {'connected_gene': 'LOC105370203', 'score': 0.31}]
chr13 GH13I050016 50016545 50016554 0.46 [{'connected_gene': 'KCNRG', 'score': 550.77}, {'connected_gene': 'MIR16-1', 'score': 11.65}, {'connected_gene': 'GC13M050020', 'score': 0.37}, {'connected_gene': 'TRIM13', 'score': 0.34}, {'connected_gene': 'DLEU2', 'score': 0.14}]
chr13 GH13I050017 50015302 50016094 0.79 [{'connected_gene': 'KCNRG', 'score': 550.77}, {'connected_gene': 'MIR16-1', 'score': 11.65}, {'connected_gene': 'TRIM13', 'score': 0.37}, {'connected_gene': 'GC13M050020', 'score': 0.37}, {'connected_gene': 'DLEU2', 'score': 0.14}]
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 GH13I050015 50015121 50015180 0.61 [{'connected_gene': 'KCNRG', 'score': 550.77}, {'connected_gene': 'TRIM13', 'score': 0.37}, {'connected_gene': 'MIR3613', 'score': 0.37}, {'connected_gene': 'DLEU2', 'score': 0.14}]
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 GH13I049371 49371985 49372194 0.76 [{'connected_gene': 'TRIM13', 'score': 10.98}, {'connected_gene': 'SETDB2', 'score': 10.23}, {'connected_gene': 'KCNRG', 'score': 10.18}, {'connected_gene': 'GC13P049390', 'score': 0.37}, {'connected_gene': 'CAB39L', 'score': 0.19}, {'connected_gene': 'GC13P049296', 'score': 0.18}]
chr13 GH13I049300 49300785 49301800 1.05 [{'connected_gene': 'TRIM13', 'score': 10.91}, {'connected_gene': 'SETDB2', 'score': 10.19}, {'connected_gene': 'GC13P049296', 'score': 0.77}, {'connected_gene': 'GC13P049390', 'score': 0.17}]
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 GH13I049927 49927584 49928330 0.2 [{'connected_gene': 'TRIM13', 'score': 9.92}, {'connected_gene': 'RNY4P9', 'score': 0.37}, {'connected_gene': 'GC13M049909', 'score': 0.37}, {'connected_gene': 'GC13P049951', 'score': 0.34}, {'connected_gene': 'SPRYD7', 'score': 0.2}]
chr13 GH13I050140 50140601 50142600 0.97 [{'connected_gene': 'RPL34P26', 'score': 10.47}, {'connected_gene': 'EBPL', 'score': 8.2}, {'connected_gene': 'DLEU1', 'score': 5.45}, {'connected_gene': 'TRIM13', 'score': 4.32}, {'connected_gene': 'ENSG00000274270', 'score': 0.37}, {'connected_gene': 'ST13P4', 'score': 0.29}]
chr13 GH13I049981 49981571 49981725 0.22 [{'connected_gene': 'GC13P049980', 'score': 550.77}, {'connected_gene': 'KCNRG', 'score': 11.34}, {'connected_gene': 'SPRYD7', 'score': 0.39}, {'connected_gene': 'TRIM13', 'score': 0.39}]
chr13 GH13I049951 49951446 49955979 0.6 [{'connected_gene': 'GC13P049953', 'score': 550.77}, {'connected_gene': 'GC13P049954', 'score': 550.77}, {'connected_gene': 'GC13P049951', 'score': 550.77}, {'connected_gene': 'GC13P049955', 'score': 550.77}, {'connected_gene': 'DLEU1', 'score': 11.55}, {'connected_gene': 'TRIM13', 'score': 10.27}, {'connected_gene': 'KPNA3', 'score': 10.2}, {'connected_gene': 'EBPL', 'score': 8.47}, {'connected_gene': 'SPRYD7', 'score': 0.26}]
chr13 GH13I050075 50075404 50084477 1.77 [{'connected_gene': 'ENSG00000275559', 'score': 550.77}, {'connected_gene': 'TRIM13', 'score': 19.45}, {'connected_gene': 'SETDB2', 'score': 18.14}, {'connected_gene': 'CTAGE10P', 'score': 13.33}, {'connected_gene': 'DLEU1', 'score': 13.16}, {'connected_gene': 'KCNRG', 'score': 11.3}, {'connected_gene': 'EBPL', 'score': 10.69}, {'connected_gene': 'ENSG00000277752', 'score': 0.77}, {'connected_gene': 'GC13P050084', 'score': 0.77}, {'connected_gene': 'ENSG00000276089', 'score': 0.77}, {'connected_gene': 'GC13P050070', 'score': 0.39}, {'connected_gene': 'DLEU2', 'score': 0.25}]