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
ENST00000543470 [[213224588, 213224851], [213244347, 213244383], [213246211, 213246328], [213251037, 213251158], [213277795, 213277911], [213290658, 213290752], [213302869, 213303232], [213341200, 213341316], [213403839, 213403887], [213405465, 213405598], [213414044, 213415640], [213415911, 213416001], [213434900, 213434983], [213436063, 213436159], [213445866, 213446127]] [[213302940, 213303232], [213341200, 213341316], [213403839, 213403887], [213405465, 213405598], [213414044, 213415640], [213415911, 213416001], [213434900, 213434983], [213436063, 213436159], [213445866, 213445977]]
ENST00000366959 [[213224596, 213224851], [213251037, 213251158], [213277795, 213277911], [213290658, 213290752], [213302869, 213303232], [213341200, 213341316], [213349742, 213349835], [213403839, 213403887], [213405465, 213405598], [213414044, 213415640], [213415911, 213416001], [213434900, 213434983], [213436063, 213436159], [213445866, 213448116]] [[213224746, 213224851], [213251037, 213251158], [213277795, 213277911], [213290658, 213290752], [213302869, 213303232], [213341200, 213341316], [213349742, 213349835], [213403839, 213403887], [213405465, 213405598], [213414044, 213415640], [213415911, 213416001], [213434900, 213434983], [213436063, 213436159], [213445866, 213445977]]
ENST00000366960 [[213224596, 213224851], [213244347, 213244383], [213251037, 213251158], [213277795, 213277911], [213290658, 213290752], [213302869, 213303232], [213341200, 213341316], [213349742, 213349835], [213403839, 213403887], [213405465, 213405598], [213414044, 213415640], [213415911, 213416001], [213434900, 213434983], [213436063, 213436159], [213445866, 213448116]] [[213224746, 213224851], [213244347, 213244383], [213251037, 213251158], [213277795, 213277911], [213290658, 213290752], [213302869, 213303232], [213341200, 213341316], [213349742, 213349835], [213403839, 213403887], [213405465, 213405598], [213414044, 213415640], [213415911, 213416001], [213434900, 213434983], [213436063, 213436159], [213445866, 213445977]]
ENST00000543354 [[213224603, 213224851], [213251037, 213251158], [213277795, 213277911], [213341200, 213341316], [213349742, 213349835], [213403839, 213403887], [213405465, 213405598], [213414044, 213416001], [213434900, 213434983], [213436063, 213436159], [213445866, 213445887]] [[213341256, 213341316], [213349742, 213349835], [213403839, 213403887], [213405465, 213405598], [213414044, 213415693]]
ENST00000490299 [[213246279, 213246328], [213251037, 213251158], [213277795, 213277911], [213302869, 213303232], [213341200, 213341316], [213349742, 213349835], [213403839, 213403887], [213405465, 213405598], [213414044, 213415640], [213415911, 213416001], [213434900, 213434983], [213436063, 213436159], [213445866, 213448116]] None
ENST00000468069 [[213302869, 213303232], [213341200, 213341316], [213349742, 213350047]] None
ENST00000491616 [[213415402, 213416001], [213434900, 213434983], [213436063, 213436159]] None
NM_001136138 [[213224574, 213224851], [213251037, 213251158], [213277795, 213277911], [213290658, 213290752], [213302869, 213303232], [213341200, 213341316], [213349742, 213349835], [213403839, 213403887], [213405465, 213405598], [213414044, 213415640], [213415911, 213416001], [213434900, 213434983], [213436063, 213436159], [213445866, 213446808]] [[213224746, 213224851], [213251037, 213251158], [213277795, 213277911], [213290658, 213290752], [213302869, 213303232], [213341200, 213341316], [213349742, 213349835], [213403839, 213403887], [213405465, 213405598], [213414044, 213415640], [213415911, 213416001], [213434900, 213434983], [213436063, 213436159], [213445866, 213445977]]
NM_001287221 [[213224574, 213224851], [213244347, 213244383], [213277795, 213277911], [213290658, 213290752], [213302869, 213303232], [213341200, 213341316], [213349742, 213349835], [213403839, 213403887], [213405465, 213405598], [213414044, 213415640], [213415911, 213416001], [213434900, 213434983], [213436063, 213436159], [213445866, 213446808]] [[213302940, 213303232], [213341200, 213341316], [213349742, 213349835], [213403839, 213403887], [213405465, 213405598], [213414044, 213415640], [213415911, 213416001], [213434900, 213434983], [213436063, 213436159], [213445866, 213445977]]
NM_001287220 [[213224574, 213224851], [213244347, 213244383], [213251037, 213251158], [213277795, 213277911], [213290658, 213290752], [213302869, 213303232], [213341200, 213341316], [213349742, 213349835], [213414044, 213415640], [213415911, 213416001], [213434900, 213434983], [213436063, 213436159], [213445866, 213446808]] [[213414214, 213415640], [213415911, 213416001], [213434900, 213434983], [213436063, 213436159], [213445866, 213445977]]
NM_012424 [[213224574, 213224851], [213244347, 213244383], [213251037, 213251158], [213277795, 213277911], [213290658, 213290752], [213302869, 213303232], [213341200, 213341316], [213349742, 213349835], [213403839, 213403887], [213405465, 213405598], [213414044, 213415640], [213415911, 213416001], [213434900, 213434983], [213436063, 213436159], [213445866, 213446808]] [[213224746, 213224851], [213244347, 213244383], [213251037, 213251158], [213277795, 213277911], [213290658, 213290752], [213302869, 213303232], [213341200, 213341316], [213349742, 213349835], [213403839, 213403887], [213405465, 213405598], [213414044, 213415640], [213415911, 213416001], [213434900, 213434983], [213436063, 213436159], [213445866, 213445977]]
NM_001287218 [[213224574, 213224851], [213244347, 213244383], [213251037, 213251158], [213277795, 213277911], [213290658, 213290752], [213299108, 213299186], [213302869, 213303232], [213341200, 213341316], [213403839, 213403887], [213405465, 213405598], [213414044, 213415640], [213415911, 213416001], [213434900, 213434983], [213436063, 213436159], [213445866, 213446808]] [[213302940, 213303232], [213341200, 213341316], [213403839, 213403887], [213405465, 213405598], [213414044, 213415640], [213415911, 213416001], [213434900, 213434983], [213436063, 213436159], [213445866, 213445977]]
NM_001287219 [[213224574, 213224851], [213244347, 213244383], [213246211, 213246328], [213251037, 213251158], [213277795, 213277911], [213290658, 213290752], [213302869, 213303232], [213341200, 213341316], [213403839, 213403887], [213405465, 213405598], [213414044, 213415640], [213415911, 213416001], [213434900, 213434983], [213436063, 213436159], [213445866, 213446808]] [[213302940, 213303232], [213341200, 213341316], [213403839, 213403887], [213405465, 213405598], [213414044, 213415640], [213415911, 213416001], [213434900, 213434983], [213436063, 213436159], [213445866, 213445977]]
Promoter
Chrom Start End Description
chr1 213224572 213224686 CAGE_peak_1_at_RPS6KC1_5end
chr1 213224687 213224698 CAGE_peak_2_at_RPS6KC1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I213123 213123802 213125141 0.87 [{'connected_gene': 'ANGEL2', 'score': 6.83}, {'connected_gene': 'GC01P213058', 'score': 0.2}, {'connected_gene': 'RPS6KC1', 'score': 0.19}, {'connected_gene': 'GC01P213252', 'score': 0.13}]
chr1 GH01I212949 212949974 212956597 2.49 [{'connected_gene': 'VASH2', 'score': 557.12}, {'connected_gene': 'RPS6KC1', 'score': 6.01}, {'connected_gene': 'TATDN3', 'score': 4.55}, {'connected_gene': 'ANGEL2', 'score': 0.21}]
chr1 GH01I212681 212681131 212681531 0.6 [{'connected_gene': 'BATF3', 'score': 4.75}, {'connected_gene': 'ATF3', 'score': 2.66}, {'connected_gene': 'RPS6KC1', 'score': 1.35}, {'connected_gene': 'GC01P212693', 'score': 0.39}, {'connected_gene': 'LOC102723761', 'score': 0.37}]
chr1 GH01I212670 212670899 212672200 1.23 [{'connected_gene': 'BATF3', 'score': 17.99}, {'connected_gene': 'ATF3', 'score': 2.51}, {'connected_gene': 'RPS6KC1', 'score': 1.28}, {'connected_gene': 'LOC102723761', 'score': 0.44}, {'connected_gene': 'GC01P212693', 'score': 0.34}]
chr1 GH01I212682 212682038 212682183 0.5 [{'connected_gene': 'ATF3', 'score': 2.49}, {'connected_gene': 'RPS6KC1', 'score': 1.43}, {'connected_gene': 'GC01P212693', 'score': 0.39}, {'connected_gene': 'LOC102723761', 'score': 0.37}]
chr1 GH01I213050 213050183 213053260 2.07 [{'connected_gene': 'RPS6KC1', 'score': 589.57}, {'connected_gene': 'ANGEL2', 'score': 11.93}, {'connected_gene': 'PPP2R5A', 'score': 4.38}, {'connected_gene': 'GC01P213058', 'score': 0.44}]
chr1 GH01I213008 213008679 213008828 0.52 [{'connected_gene': 'RPS6KC1', 'score': 37.07}, {'connected_gene': 'VASH2', 'score': 10.56}, {'connected_gene': 'ANGEL2', 'score': 0.44}, {'connected_gene': 'GC01M213006', 'score': 0.34}]
chr1 GH01I212967 212967289 212969236 0.99 [{'connected_gene': 'RPS6KC1', 'score': 7.78}, {'connected_gene': 'VASH2', 'score': 0.29}, {'connected_gene': 'ANGEL2', 'score': 0.25}]
chr1 GH01I212977 212977359 212982937 1.49 [{'connected_gene': 'RPS6KC1', 'score': 20.86}, {'connected_gene': 'VASH2', 'score': 13.4}, {'connected_gene': 'BATF3', 'score': 12.93}, {'connected_gene': 'ANGEL2', 'score': 12.08}, {'connected_gene': 'TATDN3', 'score': 1.35}]
chr1 GH01I213320 213320261 213320484 0.4 [{'connected_gene': 'RPS6KC1', 'score': 8.29}, {'connected_gene': 'GC01P213252', 'score': 0.2}, {'connected_gene': 'GC01P213400', 'score': 0.18}]
chr1 GH01I212634 212634528 212640217 1.67 [{'connected_gene': 'LOC105372909', 'score': 550.77}, {'connected_gene': 'ATF3', 'score': 12.25}, {'connected_gene': 'BATF3', 'score': 10.81}, {'connected_gene': 'RPS6KC1', 'score': 6.5}, {'connected_gene': 'FLVCR1-AS1', 'score': 4.77}, {'connected_gene': 'TATDN3', 'score': 4.57}, {'connected_gene': 'PPP2R5A', 'score': 2.55}, {'connected_gene': 'VASH2', 'score': 2.09}, {'connected_gene': 'ENSG00000235862', 'score': 0.39}, {'connected_gene': 'LOC102723761', 'score': 0.31}]
chr1 GH01I212683 212682368 212684000 1.23 [{'connected_gene': 'RPL21P28', 'score': 10.08}, {'connected_gene': 'ATF3', 'score': 9.94}, {'connected_gene': 'RPS6KC1', 'score': 7.5}, {'connected_gene': 'BATF3', 'score': 6.26}, {'connected_gene': 'SPATA45', 'score': 5.34}, {'connected_gene': 'TATDN3', 'score': 4.38}, {'connected_gene': 'GC01P212693', 'score': 0.44}, {'connected_gene': 'LOC102723761', 'score': 0.37}]
chr1 GH01I213324 213324769 213328047 1.9 [{'connected_gene': 'ENSG00000260805', 'score': 10.29}, {'connected_gene': 'RPS6KC1', 'score': 1.93}, {'connected_gene': 'GC01P213400', 'score': 0.19}, {'connected_gene': 'GC01P213252', 'score': 0.19}]
chr1 GH01I213249 213249886 213251073 0.2 [{'connected_gene': 'GC01P213252', 'score': 550.77}, {'connected_gene': 'GC01P213058', 'score': 0.08}, {'connected_gene': 'RPS6KC1', 'score': 0.08}]
chr1 GH01I213136 213136378 213136525 0.38 [{'connected_gene': 'GC01P213058', 'score': 0.18}, {'connected_gene': 'RPS6KC1', 'score': 0.17}, {'connected_gene': 'GC01P213252', 'score': 0.13}]
chr1 GH01I213138 213138088 213139607 0.7 [{'connected_gene': 'GC01P213058', 'score': 0.18}, {'connected_gene': 'RPS6KC1', 'score': 0.17}, {'connected_gene': 'GC01P213252', 'score': 0.14}]
chr1 GH01I213260 213260798 213260927 0.74 [{'connected_gene': 'GC01P213252', 'score': 0.44}, {'connected_gene': 'GC01P213400', 'score': 0.12}, {'connected_gene': 'RPS6KC1', 'score': 0.08}]
chr1 GH01I213070 213070348 213070954 0.98 [{'connected_gene': 'GC01P213058', 'score': 0.39}, {'connected_gene': 'RPS6KC1', 'score': 0.37}, {'connected_gene': 'GC01P213252', 'score': 0.09}]
chr1 GH01I213201 213201362 213202032 0.2 [{'connected_gene': 'GC01P213252', 'score': 0.23}, {'connected_gene': 'GC01P213058', 'score': 0.11}, {'connected_gene': 'RPS6KC1', 'score': 0.1}]
chr1 GH01I213242 213242299 213242689 0.4 [{'connected_gene': 'GC01P213252', 'score': 0.44}, {'connected_gene': 'GC01P213058', 'score': 0.09}, {'connected_gene': 'RPS6KC1', 'score': 0.08}]
chr1 GH01I213224 213224969 213225306 0.4 [{'connected_gene': 'GC01P213252', 'score': 0.31}, {'connected_gene': 'GC01P213058', 'score': 0.1}, {'connected_gene': 'RPS6KC1', 'score': 0.09}]
chr1 GH01I213176 213176313 213176633 0.66 [{'connected_gene': 'GC01P213252', 'score': 0.18}, {'connected_gene': 'RPS6KC1', 'score': 0.13}, {'connected_gene': 'GC01P213058', 'score': 0.13}]
chr1 GH01I213159 213159437 213159720 0.4 [{'connected_gene': 'GC01P213252', 'score': 0.16}, {'connected_gene': 'GC01P213058', 'score': 0.15}, {'connected_gene': 'RPS6KC1', 'score': 0.14}]
chr1 GH01I212664 212664839 212669048 2.01 [{'connected_gene': 'ENSG00000237980', 'score': 550.77}, {'connected_gene': 'LOC102723761', 'score': 550.77}, {'connected_gene': 'FAM71A', 'score': 11.15}, {'connected_gene': 'DTL', 'score': 9.89}, {'connected_gene': 'SPATA45', 'score': 8.99}, {'connected_gene': 'PPP2R5A', 'score': 6.03}, {'connected_gene': 'ATF3', 'score': 6.0}, {'connected_gene': 'BATF3', 'score': 5.17}, {'connected_gene': 'ANGEL2', 'score': 4.61}, {'connected_gene': 'RPS6KC1', 'score': 2.72}, {'connected_gene': 'GC01P212693', 'score': 0.31}]