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
ENST00000358545 [[43136871, 43137099], [43140756, 43140898], [43145715, 43145874], [43155261, 43155429], [43174887, 43174933], [43175018, 43175117], [43180632, 43181310]] [[43155261, 43155429], [43174887, 43174933], [43175018, 43175117], [43180632, 43181054]]
ENST00000405262 [[43140752, 43140898], [43145715, 43145874], [43155261, 43155429], [43174887, 43174933], [43175018, 43175117], [43180632, 43182149]] [[43155261, 43155429], [43174887, 43174933], [43175018, 43175117], [43180632, 43181054]]
ENST00000239849 [[43148288, 43148658], [43155261, 43155429], [43174887, 43174933], [43175018, 43175117], [43180632, 43182144]] [[43148439, 43148658], [43155261, 43155429], [43174887, 43174933], [43175018, 43175117], [43180632, 43181054]]
ENST00000398795 [[43148290, 43148658], [43155261, 43155429], [43174887, 43174933], [43175018, 43175117], [43180632, 43182149]] [[43155261, 43155429], [43174887, 43174933], [43175018, 43175117], [43180632, 43181054]]
ENST00000544862 [[43148359, 43148388], [43148604, 43148658], [43155261, 43155429], [43174887, 43174933], [43175018, 43175117], [43180632, 43181054]] [[43155261, 43155429], [43174887, 43174933], [43175018, 43175117], [43180632, 43181054]]
NM_033012 [[43136871, 43137099], [43140756, 43140898], [43145715, 43145874], [43155261, 43155429], [43174887, 43174933], [43175018, 43175117], [43180632, 43182149]] [[43155261, 43155429], [43174887, 43174933], [43175018, 43175117], [43180632, 43181054]]
NM_003701 [[43148290, 43148658], [43155261, 43155429], [43174887, 43174933], [43175018, 43175117], [43180632, 43182149]] [[43148439, 43148658], [43155261, 43155429], [43174887, 43174933], [43175018, 43175117], [43180632, 43181054]]
Promoter
Chrom Start End Description
chr13 43148281 43148293 CAGE_peak_1_at_TNFSF11_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I042387 42387029 42389379 0.38 [{'connected_gene': 'TNFSF11', 'score': 10.2}, {'connected_gene': 'GC13M042401', 'score': 0.39}, {'connected_gene': 'FABP3P2', 'score': 0.37}, {'connected_gene': 'LINC02341', 'score': 0.25}]
chr13 GH13I042396 42396489 42396774 0.85 [{'connected_gene': 'TNFSF11', 'score': 9.19}, {'connected_gene': 'DGKH', 'score': 2.62}, {'connected_gene': 'AKAP11', 'score': 2.49}, {'connected_gene': 'GC13M042401', 'score': 0.44}, {'connected_gene': 'FABP3P2', 'score': 0.31}, {'connected_gene': 'LINC02341', 'score': 0.22}]
chr13 GH13I042377 42377227 42379296 1.02 [{'connected_gene': 'TNFSF11', 'score': 9.97}, {'connected_gene': 'AKAP11', 'score': 4.77}, {'connected_gene': 'FABP3P2', 'score': 0.44}, {'connected_gene': 'GC13M042401', 'score': 0.34}, {'connected_gene': 'LINC02341', 'score': 0.28}]
chr13 GH13I042391 42391750 42396200 1.39 [{'connected_gene': 'TNFSF11', 'score': 9.92}, {'connected_gene': 'AKAP11', 'score': 6.29}, {'connected_gene': 'DGKH', 'score': 2.02}, {'connected_gene': 'GC13M042401', 'score': 0.44}, {'connected_gene': 'FABP3P2', 'score': 0.34}, {'connected_gene': 'LINC02341', 'score': 0.23}]
chr13 GH13I042354 42354097 42356676 1.25 [{'connected_gene': 'TNFSF11', 'score': 16.61}, {'connected_gene': 'AKAP11', 'score': 15.34}, {'connected_gene': 'DGKH', 'score': 1.9}, {'connected_gene': 'VWA8', 'score': 1.24}, {'connected_gene': 'FABP3P2', 'score': 0.39}, {'connected_gene': 'LINC02341', 'score': 0.37}]
chr13 GH13I042597 42597345 42597364 0.22 [{'connected_gene': 'TNFSF11', 'score': 2.26}, {'connected_gene': 'AKAP11', 'score': 1.29}, {'connected_gene': 'DGKH', 'score': 1.27}, {'connected_gene': 'GC13P042584', 'score': 0.39}, {'connected_gene': 'GC13M042780', 'score': 0.09}]
chr13 GH13I042524 42524264 42525986 0.94 [{'connected_gene': 'TNFSF11', 'score': 16.93}, {'connected_gene': 'AKAP11', 'score': 6.17}, {'connected_gene': 'DGKH', 'score': 1.43}, {'connected_gene': 'GC13M042451', 'score': 0.21}]
chr13 GH13I042411 42411256 42414720 0.76 [{'connected_gene': 'TNFSF11', 'score': 14.16}, {'connected_gene': 'AKAP11', 'score': 9.07}, {'connected_gene': 'GC13M042417', 'score': 0.44}, {'connected_gene': 'GC13M042401', 'score': 0.39}, {'connected_gene': 'LINC02341', 'score': 0.19}]
chr13 GH13I042405 42405330 42406885 1.23 [{'connected_gene': 'TNFSF11', 'score': 17.63}, {'connected_gene': 'AKAP11', 'score': 3.11}, {'connected_gene': 'GC13M042401', 'score': 0.77}, {'connected_gene': 'GC13M042417', 'score': 0.39}, {'connected_gene': 'LINC02341', 'score': 0.2}]
chr13 GH13I042548 42548023 42550199 1.29 [{'connected_gene': 'TNFSF11', 'score': 6.79}, {'connected_gene': 'AKAP11', 'score': 3.39}, {'connected_gene': 'GC13M042451', 'score': 0.17}]
chr13 GH13I042486 42486124 42488195 0.91 [{'connected_gene': 'TNFSF11', 'score': 6.31}, {'connected_gene': 'AKAP11', 'score': 5.02}, {'connected_gene': 'GC13M042451', 'score': 0.31}]
chr13 GH13I042591 42591742 42595514 1.36 [{'connected_gene': 'TNFSF11', 'score': 11.0}, {'connected_gene': 'GC13P042584', 'score': 0.44}, {'connected_gene': 'GC13M042780', 'score': 0.09}]
chr13 GH13I042573 42573836 42575600 1.62 [{'connected_gene': 'TNFSF11', 'score': 550.39}, {'connected_gene': 'GC13P042584', 'score': 0.44}]
chr13 GH13I042532 42532601 42533000 0.87 [{'connected_gene': 'TNFSF11', 'score': 0.31}, {'connected_gene': 'GC13M042451', 'score': 0.19}]
chr13 GH13I042494 42494975 42496074 0.68 [{'connected_gene': 'TNFSF11', 'score': 10.65}, {'connected_gene': 'GC13M042451', 'score': 0.29}]
chr13 GH13I042567 42567917 42568689 0.31 [{'connected_gene': 'TNFSF11', 'score': 0.44}, {'connected_gene': 'GC13P042584', 'score': 0.37}]
chr13 GH13I042553 42553385 42554367 0.57 [{'connected_gene': 'TNFSF11', 'score': 0.44}, {'connected_gene': 'GC13M042451', 'score': 0.16}]
chr13 GH13I042367 42367941 42368009 0.48 [{'connected_gene': 'FABP3P2', 'score': 550.77}, {'connected_gene': 'AKAP11', 'score': 2.24}, {'connected_gene': 'TNFSF11', 'score': 2.13}, {'connected_gene': 'LINC02341', 'score': 0.31}]
chr13 GH13I042806 42806928 42809385 0.56 [{'connected_gene': 'FAM216B', 'score': 11.76}, {'connected_gene': 'TNFSF11', 'score': 9.53}, {'connected_gene': 'LINC01050', 'score': 6.17}]
chr13 GH13I042379 42379985 42381354 1.23 [{'connected_gene': 'AKAP11', 'score': 6.49}, {'connected_gene': 'TNFSF11', 'score': 5.27}, {'connected_gene': 'DGKH', 'score': 1.77}, {'connected_gene': 'FABP3P2', 'score': 0.39}, {'connected_gene': 'GC13M042401', 'score': 0.34}, {'connected_gene': 'LINC02341', 'score': 0.26}]
chr13 GH13I042497 42497254 42498448 0.74 [{'connected_gene': 'AKAP11', 'score': 8.08}, {'connected_gene': 'GC13M042451', 'score': 0.28}, {'connected_gene': 'TNFSF11', 'score': 0.21}]
chr13 GH13I042270 42270583 42276969 2.54 [{'connected_gene': 'AKAP11', 'score': 569.51}, {'connected_gene': 'NAA16', 'score': 17.69}, {'connected_gene': 'TNFSF11', 'score': 3.47}, {'connected_gene': 'DGKH', 'score': 1.35}, {'connected_gene': 'GC13M042285', 'score': 0.22}]
chr13 GH13I042401 42401985 42403594 0.63 [{'connected_gene': 'GC13M042401', 'score': 550.77}, {'connected_gene': 'TNFSF11', 'score': 10.47}, {'connected_gene': 'AKAP11', 'score': 4.42}, {'connected_gene': 'GC13M042417', 'score': 0.37}, {'connected_gene': 'LINC02341', 'score': 0.21}]
chr13 GH13I043043 43043135 43046399 1.23 [{'connected_gene': 'GC13M043046', 'score': 550.77}, {'connected_gene': 'GC13P043043', 'score': 550.77}, {'connected_gene': 'DNAJC15', 'score': 43.98}, {'connected_gene': 'EPSTI1', 'score': 16.35}, {'connected_gene': 'TNFSF11', 'score': 1.37}]