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
ENST00000355192 [[65672422, 65672645], [65720605, 65720714], [65722305, 65722383], [65762777, 65762806], [65847507, 65847605], [65856934, 65860686]] [[65672548, 65672645], [65720605, 65720714], [65722305, 65722383], [65762777, 65762806], [65847507, 65847605], [65856934, 65857102]]
ENST00000308259 [[65672422, 65672645], [65702308, 65702435], [65720605, 65720714], [65722305, 65722383], [65762777, 65762806], [65847507, 65847605], [65856934, 65860687]] [[65702359, 65702435], [65720605, 65720714], [65722305, 65722383], [65762777, 65762806], [65847507, 65847605], [65856934, 65857102]]
ENST00000541897 [[65672448, 65672645], [65702308, 65702435], [65762777, 65762806], [65847507, 65847605], [65856934, 65856972]] [[65672548, 65672645], [65702308, 65702346]]
ENST00000540804 [[65672511, 65672645], [65720605, 65720714], [65722305, 65722383], [65762777, 65762806], [65847507, 65848041]] [[65672548, 65672645], [65720605, 65720714], [65722305, 65722383], [65762777, 65762806], [65847507, 65847677]]
ENST00000535664 [[65672521, 65672645], [65700642, 65700806], [65702308, 65702435], [65720605, 65720714], [65722305, 65722383], [65762777, 65762806], [65847507, 65847605], [65856934, 65857169]] [[65702359, 65702435], [65720605, 65720714], [65722305, 65722383], [65762777, 65762806], [65847507, 65847605], [65856934, 65857102]]
ENST00000541189 [[65672523, 65672645], [65720605, 65720714], [65722305, 65722383], [65762777, 65762806], [65847507, 65847605], [65881783, 65881875]] [[65672523, 65672645], [65720605, 65720714], [65722305, 65722383], [65762777, 65762806], [65847507, 65847605], [65881783, 65881870]]
ENST00000538045 [[65672705, 65672829], [65702308, 65702435], [65720605, 65720714], [65722305, 65722383], [65762777, 65762806], [65847507, 65847567]] [[65702359, 65702435], [65720605, 65720714], [65722305, 65722383], [65762777, 65762806], [65847507, 65847567]]
ENST00000535239 [[65672766, 65672851], [65702308, 65702435], [65720605, 65720714], [65722305, 65722383], [65762777, 65762806], [65847507, 65847605], [65856934, 65857038]] [[65702359, 65702435], [65720605, 65720714], [65722305, 65722383], [65762777, 65762806], [65847507, 65847605], [65856934, 65857038]]
ENST00000446731 [[65720654, 65720714], [65722305, 65722383], [65762777, 65762806], [65847507, 65847605], [65881783, 65882024]] [[65720654, 65720714], [65722305, 65722383], [65762777, 65762806], [65847507, 65847605], [65881783, 65881870]]
ENST00000535143 [[65737913, 65738015], [65762777, 65762806], [65847507, 65847605], [65856934, 65857124]] None
ENST00000538725 [[65672483, 65672645], [65702308, 65702435], [65709812, 65710097]] None
NM_198080 [[65672422, 65672645], [65720605, 65720714], [65722305, 65722383], [65762777, 65762806], [65847507, 65847605], [65856934, 65860687]] [[65672548, 65672645], [65720605, 65720714], [65722305, 65722383], [65762777, 65762806], [65847507, 65847605], [65856934, 65857102]]
NM_001031679 [[65672422, 65672645], [65702308, 65702435], [65720605, 65720714], [65722305, 65722383], [65762777, 65762806], [65847507, 65847605], [65856934, 65860687]] [[65702359, 65702435], [65720605, 65720714], [65722305, 65722383], [65762777, 65762806], [65847507, 65847605], [65856934, 65857102]]
NM_001193460 [[65672422, 65672645], [65700642, 65700806], [65702308, 65702435], [65720605, 65720714], [65722305, 65722383], [65762777, 65762806], [65847507, 65847605], [65856934, 65860687]] [[65702359, 65702435], [65720605, 65720714], [65722305, 65722383], [65762777, 65762806], [65847507, 65847605], [65856934, 65857102]]
NM_001193461 [[65672766, 65672851], [65702308, 65702435], [65720605, 65720714], [65722305, 65722383], [65762777, 65762806], [65847507, 65847605], [65856934, 65860687]] [[65702359, 65702435], [65720605, 65720714], [65722305, 65722383], [65762777, 65762806], [65847507, 65847605], [65856934, 65857102]]
Promoter
Chrom Start End Description
chr12 65672321 65672354 CAGE_peak_2_at_MSRB3_5end
chr12 65672443 65672553 CAGE_peak_1_at_MSRB3_5end
chr12 65672702 65672744 CAGE_peak_3_at_MSRB3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I065763 65763612 65766580 0.43 [{'connected_gene': 'HMGA2', 'score': 11.17}, {'connected_gene': 'RPSAP52', 'score': 11.16}, {'connected_gene': 'MSRB3', 'score': 10.08}, {'connected_gene': 'ENSG00000250280', 'score': 10.08}, {'connected_gene': 'GC12P065791', 'score': 0.31}, {'connected_gene': 'GC12M065700', 'score': 0.21}]
chr12 GH12I065277 65277800 65281072 1.91 [{'connected_gene': 'MSRB3', 'score': 550.77}, {'connected_gene': 'LEMD3', 'score': 13.65}, {'connected_gene': 'ENSG00000250280', 'score': 0.77}, {'connected_gene': 'GC12P065270', 'score': 0.44}]
chr12 GH12I065300 65300901 65301050 0.67 [{'connected_gene': 'MSRB3', 'score': 11.01}, {'connected_gene': 'ENSG00000250280', 'score': 0.37}, {'connected_gene': 'GC12P065325', 'score': 0.34}]
chr12 GH12I065284 65284973 65285032 0.5 [{'connected_gene': 'MSRB3', 'score': 550.44}, {'connected_gene': 'ENSG00000250280', 'score': 0.77}, {'connected_gene': 'GC12P065270', 'score': 0.39}, {'connected_gene': 'GC12P065325', 'score': 0.26}]
chr12 GH12I065168 65168527 65172401 2.3 [{'connected_gene': 'LEMD3', 'score': 570.42}, {'connected_gene': 'ENSG00000276853', 'score': 550.77}, {'connected_gene': 'ENSG00000250280', 'score': 21.17}, {'connected_gene': 'TBK1', 'score': 20.73}, {'connected_gene': 'MSRB3', 'score': 10.89}]
chr12 GH12I065194 65194868 65199470 0.54 [{'connected_gene': 'LEMD3', 'score': 21.24}, {'connected_gene': 'ENSG00000250280', 'score': 11.27}, {'connected_gene': 'MSRB3', 'score': 11.27}, {'connected_gene': 'LLPH', 'score': 4.71}, {'connected_gene': 'GC12P065213', 'score': 0.37}, {'connected_gene': 'ENSG00000276853', 'score': 0.31}]
chr12 GH12I065322 65322943 65323625 0.31 [{'connected_gene': 'LEMD3', 'score': 14.4}, {'connected_gene': 'GC12P065325', 'score': 0.77}, {'connected_gene': 'ENSG00000250280', 'score': 0.26}, {'connected_gene': 'MSRB3', 'score': 0.26}]
chr12 GH12I065463 65463136 65465677 0.63 [{'connected_gene': 'LEMD3', 'score': 11.94}, {'connected_gene': 'LOC105369809', 'score': 0.44}, {'connected_gene': 'KRT18P60', 'score': 0.26}, {'connected_gene': 'MSRB3', 'score': 0.09}]
chr12 GH12I065429 65429311 65432979 0.69 [{'connected_gene': 'LEMD3', 'score': 4.18}, {'connected_gene': 'KRT18P60', 'score': 0.39}, {'connected_gene': 'LOC105369809', 'score': 0.26}, {'connected_gene': 'MSRB3', 'score': 0.1}]
chr12 GH12I065474 65474153 65475472 0.43 [{'connected_gene': 'LOC105369809', 'score': 550.77}, {'connected_gene': 'GC12M065495', 'score': 0.34}, {'connected_gene': 'LOC105369187', 'score': 0.1}, {'connected_gene': 'LOC100507065', 'score': 0.1}, {'connected_gene': 'MSRB3', 'score': 0.08}]
chr12 GH12I065448 65448822 65450071 0.46 [{'connected_gene': 'LOC105369809', 'score': 0.34}, {'connected_gene': 'KRT18P60', 'score': 0.31}, {'connected_gene': 'MSRB3', 'score': 0.09}]
chr12 GH12I065456 65456130 65456996 0.2 [{'connected_gene': 'LOC105369809', 'score': 0.37}, {'connected_gene': 'KRT18P60', 'score': 0.28}, {'connected_gene': 'MSRB3', 'score': 0.1}]
chr12 GH12I065459 65459620 65460633 0.2 [{'connected_gene': 'LOC105369809', 'score': 0.39}, {'connected_gene': 'KRT18P60', 'score': 0.26}, {'connected_gene': 'MSRB3', 'score': 0.09}]
chr12 GH12I065471 65471611 65473329 0.31 [{'connected_gene': 'LOC105369809', 'score': 550.77}, {'connected_gene': 'KRT18P60', 'score': 0.23}, {'connected_gene': 'LOC105369187', 'score': 0.1}, {'connected_gene': 'LOC100507065', 'score': 0.1}, {'connected_gene': 'MSRB3', 'score': 0.08}]
chr12 GH12I065410 65410401 65410601 0.6 [{'connected_gene': 'KRT18P60', 'score': 0.44}, {'connected_gene': 'GC12P065388', 'score': 0.34}, {'connected_gene': 'MSRB3', 'score': 0.12}]
chr12 GH12I065425 65425770 65426870 0.2 [{'connected_gene': 'KRT18P60', 'score': 0.44}, {'connected_gene': 'LOC105369809', 'score': 0.25}, {'connected_gene': 'MSRB3', 'score': 0.11}]
chr12 GH12I065305 65305756 65309263 0.97 [{'connected_gene': 'ENSG00000250280', 'score': 10.99}, {'connected_gene': 'MSRB3', 'score': 10.99}, {'connected_gene': 'HMGA2', 'score': 10.89}, {'connected_gene': 'RPSAP52', 'score': 10.89}, {'connected_gene': 'LEMD3', 'score': 9.03}, {'connected_gene': 'GC12P065325', 'score': 0.37}]
chr12 GH12I066052 66052997 66053371 0.55 [{'connected_gene': 'ENSG00000250280', 'score': 10.15}, {'connected_gene': 'MSRB3', 'score': 10.15}, {'connected_gene': 'HMGA2', 'score': 9.81}, {'connected_gene': 'RPSAP52', 'score': 9.81}, {'connected_gene': 'LLPH-AS1', 'score': 4.4}, {'connected_gene': 'RNA5SP362', 'score': 0.39}, {'connected_gene': 'RPL21P18', 'score': 0.37}]
chr12 GH12I065232 65232621 65232770 0.46 [{'connected_gene': 'ENSG00000250280', 'score': 11.12}, {'connected_gene': 'MSRB3', 'score': 11.12}, {'connected_gene': 'RNU6-166P', 'score': 9.97}, {'connected_gene': 'GC12P065235', 'score': 0.77}, {'connected_gene': 'GC12P065213', 'score': 0.37}, {'connected_gene': 'LEMD3', 'score': 0.21}]
chr12 GH12I065334 65334074 65336413 1.07 [{'connected_gene': 'GC12P065338', 'score': 0.77}, {'connected_gene': 'GC12P065325', 'score': 0.44}, {'connected_gene': 'MSRB3', 'score': 0.22}]
chr12 GH12I065324 65324095 65324318 0.4 [{'connected_gene': 'GC12P065325', 'score': 550.77}, {'connected_gene': 'ENSG00000250280', 'score': 0.26}, {'connected_gene': 'MSRB3', 'score': 0.25}]
chr12 GH12I065313 65313861 65314010 0.56 [{'connected_gene': 'GC12P065325', 'score': 0.39}, {'connected_gene': 'ENSG00000250280', 'score': 0.29}, {'connected_gene': 'MSRB3', 'score': 0.28}]
chr12 GH12I065326 65326723 65328570 1.14 [{'connected_gene': 'GC12P065325', 'score': 550.77}, {'connected_gene': 'LEMD3', 'score': 41.87}, {'connected_gene': 'LOC100420899', 'score': 35.33}, {'connected_gene': 'LINC02389', 'score': 9.71}, {'connected_gene': 'GC12P065338', 'score': 0.39}, {'connected_gene': 'MSRB3', 'score': 0.25}]
chr12 GH12I065487 65487000 65489659 0.43 [{'connected_gene': 'GC12M065495', 'score': 0.44}, {'connected_gene': 'LOC105369809', 'score': 0.39}, {'connected_gene': 'LOC105369187', 'score': 0.1}, {'connected_gene': 'LOC100507065', 'score': 0.1}, {'connected_gene': 'MSRB3', 'score': 0.08}]
chr12 GH12I065392 65392601 65392750 0.2 [{'connected_gene': 'GC12P065388', 'score': 0.77}, {'connected_gene': 'KRT18P60', 'score': 0.31}, {'connected_gene': 'MSRB3', 'score': 0.14}]
chr12 GH12I065391 65391536 65392583 0.2 [{'connected_gene': 'GC12P065388', 'score': 0.77}, {'connected_gene': 'KRT18P60', 'score': 0.31}, {'connected_gene': 'MSRB3', 'score': 0.14}]
chr12 GH12I066047 66047144 66051154 1.16 [{'connected_gene': 'ENSG00000256083', 'score': 10.68}, {'connected_gene': 'LOC100129940', 'score': 10.33}, {'connected_gene': 'MSRB3', 'score': 10.15}, {'connected_gene': 'ENSG00000250280', 'score': 10.15}, {'connected_gene': 'HMGA2', 'score': 9.81}, {'connected_gene': 'RPSAP52', 'score': 9.81}, {'connected_gene': 'LLPH-AS1', 'score': 4.39}, {'connected_gene': 'RPL21P18', 'score': 0.39}, {'connected_gene': 'RNA5SP362', 'score': 0.37}]