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
ENST00000263640 [[158592957, 158594177], [158594951, 158595082], [158617391, 158617589], [158622432, 158622708], [158626879, 158627026], [158630599, 158630699], [158634642, 158634854], [158636848, 158637112], [158655938, 158656012], [158674896, 158675071], [158731375, 158731623]] [[158594042, 158594177], [158594951, 158595082], [158617391, 158617589], [158622432, 158622708], [158626879, 158627026], [158630599, 158630699], [158634642, 158634854], [158636848, 158637112], [158655938, 158656005]]
ENST00000409283 [[158592960, 158594177], [158594951, 158595082], [158617391, 158617589], [158622432, 158622708], [158626879, 158627026], [158630599, 158630699], [158634642, 158634854], [158636848, 158637112], [158655938, 158656012], [158663248, 158663508]] [[158594042, 158594177], [158594951, 158595082], [158617391, 158617589], [158622432, 158622708], [158626879, 158627026], [158630599, 158630699], [158634642, 158634854], [158636848, 158637112], [158655938, 158656005]]
ENST00000434821 [[158592960, 158594177], [158594951, 158595082], [158617391, 158617589], [158622432, 158622708], [158626879, 158627026], [158630599, 158630699], [158634642, 158634854], [158636848, 158637112], [158655938, 158656012], [158674896, 158675071], [158732307, 158732374]] [[158594042, 158594177], [158594951, 158595082], [158617391, 158617589], [158622432, 158622708], [158626879, 158627026], [158630599, 158630699], [158634642, 158634854], [158636848, 158637112], [158655938, 158656005]]
ENST00000410057 [[158593827, 158594177], [158594951, 158595082], [158617391, 158617589], [158622432, 158622708], [158626879, 158627026], [158630599, 158630699], [158634642, 158634854], [158636848, 158637112], [158655938, 158656012], [158674896, 158675071], [158683039, 158683158], [158694752, 158694790]] [[158594042, 158594177], [158594951, 158595082], [158617391, 158617589], [158622432, 158622708], [158626879, 158627026], [158630599, 158630699], [158634642, 158634854], [158636848, 158637112], [158655938, 158656005]]
ENST00000440523 [[158636919, 158637112], [158655938, 158656012], [158674896, 158675071], [158732046, 158732138]] [[158636919, 158637112], [158655938, 158656005]]
ENST00000539637 [[158636961, 158637112], [158655938, 158656012], [158674896, 158675071], [158683039, 158683158], [158732307, 158732352]] [[158636961, 158637112], [158655938, 158656005]]
ENST00000424669 [[158636965, 158637112], [158655938, 158656012], [158674896, 158675071], [158675914, 158676001], [158732307, 158732374]] [[158636965, 158637112], [158655938, 158656005]]
ENST00000413751 [[158655940, 158656012], [158674896, 158675071], [158683039, 158683158], [158716566, 158716691], [158732307, 158732352]] [[158655940, 158656005]]
ENST00000487456 [[158634661, 158634854], [158636848, 158637112], [158646643, 158646749]] None
ENST00000412025 [[158636917, 158637112], [158655938, 158656012], [158674896, 158675071], [158694752, 158694839]] [[158636917, 158637112], [158655938, 158656005]]
NM_001347667 [[158592957, 158594177], [158594951, 158595082], [158617391, 158617589], [158622432, 158622708], [158626879, 158627026], [158630599, 158630699], [158634642, 158634854], [158636848, 158637112], [158655938, 158656012], [158674896, 158675071], [158683039, 158683158], [158694752, 158694790]] [[158594042, 158594177], [158594951, 158595082], [158617391, 158617589], [158622432, 158622708], [158626879, 158627026], [158630599, 158630699], [158634642, 158634854], [158636848, 158637112], [158655938, 158656005]]
NM_001105 [[158592957, 158594177], [158594951, 158595082], [158617391, 158617589], [158622432, 158622708], [158626879, 158627026], [158630599, 158630699], [158634642, 158634854], [158636848, 158637112], [158655938, 158656012], [158674896, 158675071], [158731375, 158731623]] [[158594042, 158594177], [158594951, 158595082], [158617391, 158617589], [158622432, 158622708], [158626879, 158627026], [158630599, 158630699], [158634642, 158634854], [158636848, 158637112], [158655938, 158656005]]
NM_001347663 [[158592957, 158594177], [158594951, 158595082], [158617391, 158617589], [158622432, 158622708], [158626879, 158627026], [158630599, 158630699], [158634642, 158634854], [158636848, 158637112], [158655938, 158656012], [158674896, 158675071], [158732253, 158732374]] [[158594042, 158594177], [158594951, 158595082], [158617391, 158617589], [158622432, 158622708], [158626879, 158627026], [158630599, 158630699], [158634642, 158634854], [158636848, 158637112], [158655938, 158656005]]
NM_001347666 [[158592957, 158594177], [158594951, 158595082], [158617391, 158617589], [158622432, 158622708], [158626879, 158627026], [158630599, 158630699], [158634642, 158634854], [158636848, 158637112], [158655938, 158656012], [158674896, 158675071], [158716544, 158716691], [158732307, 158732374]] [[158594042, 158594177], [158594951, 158595082], [158617391, 158617589], [158622432, 158622708], [158626879, 158627026], [158630599, 158630699], [158634642, 158634854], [158636848, 158637112], [158655938, 158656005]]
NM_001347664 [[158592957, 158594177], [158594951, 158595082], [158617391, 158617589], [158622432, 158622708], [158626879, 158627026], [158630599, 158630699], [158634642, 158634854], [158636848, 158637112], [158655938, 158656012], [158674896, 158675071], [158683039, 158683158], [158732307, 158732374]] [[158594042, 158594177], [158594951, 158595082], [158617391, 158617589], [158622432, 158622708], [158626879, 158627026], [158630599, 158630699], [158634642, 158634854], [158636848, 158637112], [158655938, 158656005]]
NM_001347665 [[158592957, 158594177], [158594951, 158595082], [158617391, 158617589], [158622432, 158622708], [158626879, 158627026], [158630599, 158630699], [158634642, 158634854], [158636848, 158637112], [158655938, 158656012], [158674896, 158675071], [158675914, 158676001], [158732307, 158732374]] [[158594042, 158594177], [158594951, 158595082], [158617391, 158617589], [158622432, 158622708], [158626879, 158627026], [158630599, 158630699], [158634642, 158634854], [158636848, 158637112], [158655938, 158656005]]
NM_001111067 [[158592957, 158594177], [158594951, 158595082], [158617391, 158617589], [158622432, 158622708], [158626879, 158627026], [158630599, 158630699], [158634642, 158634854], [158636848, 158637112], [158655938, 158656012], [158674896, 158675071], [158732307, 158732374]] [[158594042, 158594177], [158594951, 158595082], [158617391, 158617589], [158622432, 158622708], [158626879, 158627026], [158630599, 158630699], [158634642, 158634854], [158636848, 158637112], [158655938, 158656005]]
Promoter
Chrom Start End Description
chr2 158695099 158695146 CAGE_peak_6_at_ACVR1_5end
chr2 158732340 158732403 CAGE_peak_3_at_ACVR1_5end
chr2 158732561 158732631 CAGE_peak_1_at_ACVR1_5end
chr2 158732811 158732865 CAGE_peak_2_at_ACVR1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I157410 157410825 157422524 1.58 [{'connected_gene': 'CYTIP', 'score': 33.86}, {'connected_gene': 'ACVR1', 'score': 13.57}, {'connected_gene': 'FAM133DP', 'score': 12.33}, {'connected_gene': 'ERMN', 'score': 11.09}, {'connected_gene': 'GPD2', 'score': 4.14}, {'connected_gene': 'LOC105373711', 'score': 0.39}, {'connected_gene': 'GC02M157436', 'score': 0.29}]
chr2 GH02I157463 157463385 157464928 0.94 [{'connected_gene': 'CYTIP', 'score': 14.31}, {'connected_gene': 'ERMN', 'score': 10.69}, {'connected_gene': 'ACVR1', 'score': 1.15}, {'connected_gene': 'GC02M157436', 'score': 0.37}]
chr2 GH02I157847 157847154 157849274 0.2 [{'connected_gene': 'ACVR1', 'score': 11.73}, {'connected_gene': 'PKP4', 'score': 4.26}, {'connected_gene': 'GC02P157838', 'score': 0.44}, {'connected_gene': 'GC02P157874', 'score': 0.31}]
chr2 GH02I157782 157782200 157788521 1.38 [{'connected_gene': 'ACVR1', 'score': 12.14}, {'connected_gene': 'RNU6-932P', 'score': 11.26}, {'connected_gene': 'CCDC148', 'score': 4.99}, {'connected_gene': 'GC02M157769', 'score': 0.39}, {'connected_gene': 'GC02P157838', 'score': 0.23}]
chr2 GH02I158012 158010649 158012149 0.67 [{'connected_gene': 'ACVR1', 'score': 11.32}, {'connected_gene': 'RNU6-932P', 'score': 0.31}, {'connected_gene': 'GC02M157986', 'score': 0.31}, {'connected_gene': 'PTP4A1P1', 'score': 0.23}, {'connected_gene': 'UPP2', 'score': 0.12}]
chr2 GH02I158008 158008850 158010013 0.79 [{'connected_gene': 'ACVR1', 'score': 11.66}, {'connected_gene': 'RNU6-932P', 'score': 11.64}, {'connected_gene': 'GC02M157986', 'score': 0.34}, {'connected_gene': 'PTP4A1P1', 'score': 0.22}, {'connected_gene': 'UPP2', 'score': 0.12}]
chr2 GH02I158011 158010429 158010558 0.71 [{'connected_gene': 'ACVR1', 'score': 11.32}, {'connected_gene': 'RNU6-932P', 'score': 0.34}, {'connected_gene': 'GC02M157986', 'score': 0.34}, {'connected_gene': 'PTP4A1P1', 'score': 0.22}, {'connected_gene': 'UPP2', 'score': 0.12}]
chr2 GH02I158010 158010569 158010578 0.69 [{'connected_gene': 'ACVR1', 'score': 11.32}, {'connected_gene': 'RNU6-932P', 'score': 0.34}, {'connected_gene': 'GC02M157986', 'score': 0.34}, {'connected_gene': 'PTP4A1P1', 'score': 0.23}, {'connected_gene': 'UPP2', 'score': 0.12}]
chr2 GH02I157830 157830002 157833414 1.41 [{'connected_gene': 'ACVR1', 'score': 2.83}, {'connected_gene': 'GC02P157838', 'score': 0.44}, {'connected_gene': 'GC02M157769', 'score': 0.21}]
chr2 GH02I157855 157855025 157857106 1.36 [{'connected_gene': 'ACVR1', 'score': 3.2}, {'connected_gene': 'GC02P157874', 'score': 0.37}, {'connected_gene': 'GC02P157838', 'score': 0.37}]
chr2 GH02I157862 157862979 157863369 0.22 [{'connected_gene': 'ACVR1', 'score': 1.81}, {'connected_gene': 'GC02P157874', 'score': 0.39}, {'connected_gene': 'GC02P157838', 'score': 0.34}]
chr2 GH02I157874 157874279 157877340 2.03 [{'connected_gene': 'UPP2', 'score': 550.77}, {'connected_gene': 'GC02P157885', 'score': 550.77}, {'connected_gene': 'GC02P157874', 'score': 550.77}, {'connected_gene': 'ACVR1', 'score': 550.77}, {'connected_gene': 'LOC105373714', 'score': 550.77}, {'connected_gene': 'ENSG00000270557', 'score': 550.77}]
chr2 GH02I157896 157896964 157900773 1.67 [{'connected_gene': 'UPP2', 'score': 550.34}, {'connected_gene': 'FAM133DP', 'score': 13.49}, {'connected_gene': 'ACVR1', 'score': 12.41}, {'connected_gene': 'RNU6-932P', 'score': 11.41}, {'connected_gene': 'RNU6-436P', 'score': 0.39}, {'connected_gene': 'LOC105373714', 'score': 0.34}, {'connected_gene': 'ENSG00000270557', 'score': 0.34}]
chr2 GH02I157750 157750863 157752315 0.86 [{'connected_gene': 'LOC105373713', 'score': 0.37}, {'connected_gene': 'GC02M157769', 'score': 0.34}, {'connected_gene': 'ACVR1', 'score': 0.13}]
chr2 GH02I157737 157737262 157739377 0.43 [{'connected_gene': 'LOC105373713', 'score': 0.77}, {'connected_gene': 'GC02M157769', 'score': 0.29}, {'connected_gene': 'ACVR1', 'score': 0.12}]
chr2 GH02I157747 157747636 157748781 0.63 [{'connected_gene': 'LOC105373713', 'score': 0.39}, {'connected_gene': 'GC02M157769', 'score': 0.34}, {'connected_gene': 'ACVR1', 'score': 0.13}]
chr2 GH02I157746 157746369 157746518 0.46 [{'connected_gene': 'LOC105373713', 'score': 0.39}, {'connected_gene': 'GC02M157769', 'score': 0.31}, {'connected_gene': 'ACVR1', 'score': 0.13}]
chr2 GH02I157836 157836036 157842635 1.76 [{'connected_gene': 'GC02P157838', 'score': 550.77}, {'connected_gene': 'ACVR1', 'score': 12.02}, {'connected_gene': 'PKP4', 'score': 5.49}, {'connected_gene': 'GC02P157874', 'score': 0.28}]
chr2 GH02I157788 157788777 157791801 0.83 [{'connected_gene': 'GC02M157769', 'score': 0.37}, {'connected_gene': 'GC02P157838', 'score': 0.25}, {'connected_gene': 'ACVR1', 'score': 0.17}]
chr2 GH02I157808 157808258 157810520 0.82 [{'connected_gene': 'GC02P157838', 'score': 0.31}, {'connected_gene': 'GC02M157769', 'score': 0.28}, {'connected_gene': 'ACVR1', 'score': 0.2}]
chr2 GH02I157825 157825029 157826794 1.13 [{'connected_gene': 'GC02P157838', 'score': 0.39}, {'connected_gene': 'ACVR1', 'score': 0.25}, {'connected_gene': 'GC02M157769', 'score': 0.23}]
chr2 GH02I157857 157857155 157858576 0.49 [{'connected_gene': 'GC02P157874', 'score': 0.37}, {'connected_gene': 'ACVR1', 'score': 0.37}, {'connected_gene': 'GC02P157838', 'score': 0.37}]
chr2 GH02I157866 157866186 157866938 0.56 [{'connected_gene': 'GC02P157874', 'score': 0.44}, {'connected_gene': 'ACVR1', 'score': 0.44}, {'connected_gene': 'GC02P157838', 'score': 0.31}]
chr2 GH02I157792 157792201 157793521 1.03 [{'connected_gene': 'GC02M157769', 'score': 0.34}, {'connected_gene': 'GC02P157838', 'score': 0.25}, {'connected_gene': 'ACVR1', 'score': 0.18}]
chr2 GH02I157759 157759709 157760338 0.38 [{'connected_gene': 'GC02M157769', 'score': 0.39}, {'connected_gene': 'LOC105373713', 'score': 0.34}, {'connected_gene': 'ACVR1', 'score': 0.13}]
chr2 GH02I157761 157761649 157761798 0.43 [{'connected_gene': 'GC02M157769', 'score': 0.44}, {'connected_gene': 'LOC105373713', 'score': 0.31}, {'connected_gene': 'ACVR1', 'score': 0.14}]

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