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
ENST00000434243 [[5229330, 5229369], [5229865, 5229999], [5236893, 5236966], [5243437, 5243609], [5244650, 5244834], [5246751, 5246926], [5248837, 5248958], [5249777, 5249857]] [[5229877, 5229999], [5236893, 5236966], [5243437, 5243479]]
ENST00000256497 [[5229357, 5229999], [5236893, 5236966], [5241276, 5241380], [5243437, 5243609], [5244650, 5244834], [5246751, 5246926], [5248837, 5248958], [5249777, 5249948], [5251859, 5251933], [5252804, 5252901], [5255003, 5255207], [5257513, 5261642]] [[5229490, 5229999], [5236893, 5236966], [5241276, 5241380], [5243437, 5243609], [5244650, 5244834], [5246751, 5246926], [5248837, 5248958], [5249777, 5249948], [5251859, 5251933], [5252804, 5252901], [5255003, 5255207], [5257513, 5257603]]
ENST00000465369 [[5229404, 5229999], [5236893, 5236966], [5241276, 5241380], [5243437, 5243609], [5244650, 5244834], [5246751, 5246926], [5248837, 5248958], [5249777, 5249948], [5251859, 5251933], [5252804, 5253091]] None
ENST00000445686 [[5230033, 5230143], [5236893, 5236966], [5241276, 5241380], [5243437, 5243609], [5244650, 5244834], [5246751, 5246926], [5248837, 5248958], [5249777, 5249948], [5251859, 5251933], [5252804, 5252983]] [[5241279, 5241380], [5243437, 5243609], [5244650, 5244834], [5246751, 5246926], [5248837, 5248958], [5249777, 5249948], [5251859, 5251933], [5252804, 5252937]]
ENST00000492751 [[5236790, 5236966], [5241276, 5241380], [5243437, 5243464]] None
ENST00000443790 [[5229448, 5229999], [5231089, 5231268]] [[5229467, 5229629]]
ENST00000465187 [[5229490, 5229999], [5236893, 5236969]] None
NM_014674 [[5229358, 5229999], [5236893, 5236966], [5241276, 5241380], [5243437, 5243609], [5244650, 5244834], [5246751, 5246926], [5248837, 5248958], [5249777, 5249948], [5251859, 5251933], [5252804, 5252901], [5255003, 5255207], [5257513, 5261650]] [[5229490, 5229999], [5236893, 5236966], [5241276, 5241380], [5243437, 5243609], [5244650, 5244834], [5246751, 5246926], [5248837, 5248958], [5249777, 5249948], [5251859, 5251933], [5252804, 5252901], [5255003, 5255207], [5257513, 5257603]]
Promoter
Chrom Start End Description
chr3 5229204 5229231 CAGE_peak_6_at_EDEM1_5end
chr3 5229233 5229249 CAGE_peak_8_at_EDEM1_5end
chr3 5229271 5229278 CAGE_peak_14_at_EDEM1_5end
chr3 5229339 5229353 CAGE_peak_3_at_EDEM1_5end
chr3 5229356 5229367 CAGE_peak_5_at_EDEM1_5end
chr3 5229382 5229408 CAGE_peak_1_at_EDEM1_5end
chr3 5229410 5229426 CAGE_peak_2_at_EDEM1_5end
chr3 5229456 5229471 CAGE_peak_7_at_EDEM1_5end
chr3 5229484 5229499 CAGE_peak_4_at_EDEM1_5end
chr3 5236696 5236710 CAGE_peak_9_at_EDEM1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I005010 5010403 5014289 1.71 [{'connected_gene': 'EDEM1', 'score': 14.25}, {'connected_gene': 'BHLHE40', 'score': 13.79}, {'connected_gene': 'ARL8B', 'score': 9.96}, {'connected_gene': 'LOC105376934', 'score': 0.39}, {'connected_gene': 'BHLHE40-AS1', 'score': 0.29}]
chr3 GH03I004813 4813683 4816102 1.41 [{'connected_gene': 'EDEM1', 'score': 18.78}, {'connected_gene': 'ENSG00000235978', 'score': 18.52}, {'connected_gene': 'SETMAR', 'score': 10.79}, {'connected_gene': 'SUMF1', 'score': 10.28}, {'connected_gene': 'ITPR1', 'score': 5.11}, {'connected_gene': 'EGOT', 'score': 0.21}]
chr3 GH03I005180 5180333 5200942 2.79 [{'connected_gene': 'EDEM1', 'score': 565.38}, {'connected_gene': 'ARL8B', 'score': 34.47}, {'connected_gene': 'BHLHE40', 'score': 5.11}, {'connected_gene': 'ENSG00000268509', 'score': 0.77}, {'connected_gene': 'ENSG00000233912', 'score': 0.77}, {'connected_gene': 'PIR54874', 'score': 0.31}]
chr3 GH03I005149 5149478 5149701 0.8 [{'connected_gene': 'EDEM1', 'score': 17.65}, {'connected_gene': 'ARL8B', 'score': 16.56}, {'connected_gene': 'ENSG00000233912', 'score': 12.16}, {'connected_gene': 'BHLHE40', 'score': 3.35}]
chr3 GH03I005125 5125581 5127650 0.85 [{'connected_gene': 'EDEM1', 'score': 18.06}, {'connected_gene': 'ARL8B', 'score': 16.56}, {'connected_gene': 'ENSG00000233912', 'score': 11.81}]
chr3 GH03I005146 5146299 5147106 0.38 [{'connected_gene': 'EDEM1', 'score': 16.34}, {'connected_gene': 'ARL8B', 'score': 15.03}, {'connected_gene': 'ENSG00000233912', 'score': 11.75}]
chr3 GH03I005157 5157201 5158400 0.63 [{'connected_gene': 'EDEM1', 'score': 16.83}, {'connected_gene': 'ARL8B', 'score': 16.17}, {'connected_gene': 'ENSG00000233912', 'score': 11.92}]
chr3 GH03I005115 5115527 5116077 1.28 [{'connected_gene': 'EDEM1', 'score': 10.1}, {'connected_gene': 'ARL8B', 'score': 0.44}, {'connected_gene': 'ENSG00000237566', 'score': 0.37}]
chr3 GH03I005663 5663700 5663918 0.27 [{'connected_gene': 'EDEM1', 'score': 2.13}, {'connected_gene': 'PIR38925', 'score': 0.34}, {'connected_gene': 'LOC105376939', 'score': 0.34}]
chr3 GH03I005207 5207484 5210735 0.31 [{'connected_gene': 'EDEM1', 'score': 6.45}, {'connected_gene': 'PIR54874', 'score': 0.44}, {'connected_gene': 'ENSG00000268509', 'score': 0.34}]
chr3 GH03I005201 5201080 5203640 0.46 [{'connected_gene': 'EDEM1', 'score': 7.37}, {'connected_gene': 'ENSG00000268509', 'score': 0.39}, {'connected_gene': 'PIR54874', 'score': 0.39}]
chr3 GH03I004975 4975578 4989942 2.75 [{'connected_gene': 'BHLHE40', 'score': 572.1}, {'connected_gene': 'EDEM1', 'score': 14.95}, {'connected_gene': 'ARL8B', 'score': 12.03}, {'connected_gene': 'ENSG00000235978', 'score': 11.71}, {'connected_gene': 'EGOT', 'score': 11.35}, {'connected_gene': 'SETMAR', 'score': 10.79}, {'connected_gene': 'ITPR1', 'score': 1.28}, {'connected_gene': 'BHLHE40-AS1', 'score': 0.77}, {'connected_gene': 'GC03M004976', 'score': 0.77}, {'connected_gene': 'LOC105376934', 'score': 0.26}]
chr3 GH03I005006 5006082 5009246 1.44 [{'connected_gene': 'BHLHE40', 'score': 3.03}, {'connected_gene': 'EDEM1', 'score': 1.41}, {'connected_gene': 'LOC105376934', 'score': 0.37}, {'connected_gene': 'BHLHE40-AS1', 'score': 0.31}]
chr3 GH03I005015 5015930 5027953 1.86 [{'connected_gene': 'BHLHE40', 'score': 18.16}, {'connected_gene': 'ARL8B', 'score': 17.3}, {'connected_gene': 'EDEM1', 'score': 7.61}, {'connected_gene': 'LOC105376934', 'score': 0.44}, {'connected_gene': 'BHLHE40-AS1', 'score': 0.26}]
chr3 GH03I004833 4833288 4836104 1.58 [{'connected_gene': 'BHLHE40', 'score': 17.68}, {'connected_gene': 'BHLHE40-AS1', 'score': 11.99}, {'connected_gene': 'ENSG00000235978', 'score': 11.6}, {'connected_gene': 'EDEM1', 'score': 1.77}, {'connected_gene': 'EGOT', 'score': 0.18}, {'connected_gene': 'ITPR1', 'score': 0.05}]
chr3 GH03I005002 5002012 5003388 1.5 [{'connected_gene': 'BHLHE40', 'score': 27.11}, {'connected_gene': 'BHLHE40-AS1', 'score': 11.96}, {'connected_gene': 'ENSG00000235978', 'score': 11.18}, {'connected_gene': 'ARL8B', 'score': 6.05}, {'connected_gene': 'EDEM1', 'score': 3.82}, {'connected_gene': 'LOC105376934', 'score': 0.34}]
chr3 GH03I005051 5051371 5056599 1.5 [{'connected_gene': 'BHLHE40', 'score': 20.84}, {'connected_gene': 'BHLHE40-AS1', 'score': 12.22}, {'connected_gene': 'ENSG00000235978', 'score': 11.03}, {'connected_gene': 'EGOT', 'score': 10.97}, {'connected_gene': 'ARL8B', 'score': 7.19}, {'connected_gene': 'EDEM1', 'score': 5.5}, {'connected_gene': 'GC03M005068', 'score': 0.37}, {'connected_gene': 'LOC105376934', 'score': 0.31}]
chr3 GH03I005136 5136212 5141212 1.66 [{'connected_gene': 'ARL8B', 'score': 33.7}, {'connected_gene': 'EDEM1', 'score': 21.47}, {'connected_gene': 'ENSG00000233912', 'score': 12.65}, {'connected_gene': 'BHLHE40', 'score': 6.96}]
chr3 GH03I005143 5143401 5143840 0.77 [{'connected_gene': 'ARL8B', 'score': 21.96}, {'connected_gene': 'EDEM1', 'score': 16.78}, {'connected_gene': 'ENSG00000233912', 'score': 12.14}, {'connected_gene': 'BHLHE40', 'score': 5.11}]
chr3 GH03I004824 4824109 4829676 1.67 [{'connected_gene': 'ARL8B', 'score': 20.44}, {'connected_gene': 'EDEM1', 'score': 14.35}, {'connected_gene': 'SETMAR', 'score': 10.79}, {'connected_gene': 'ENSG00000235978', 'score': 7.63}, {'connected_gene': 'BHLHE40', 'score': 6.97}, {'connected_gene': 'ITPR1', 'score': 6.22}, {'connected_gene': 'EGOT', 'score': 0.18}]
chr3 GH03I004993 4993074 4997383 1.74 [{'connected_gene': 'ARL8B', 'score': 16.95}, {'connected_gene': 'EDEM1', 'score': 14.05}, {'connected_gene': 'ENSG00000235978', 'score': 11.51}, {'connected_gene': 'SETMAR', 'score': 10.79}, {'connected_gene': 'SUMF1', 'score': 10.26}, {'connected_gene': 'BHLHE40', 'score': 7.81}, {'connected_gene': 'BHLHE40-AS1', 'score': 0.37}, {'connected_gene': 'LOC105376934', 'score': 0.29}]
chr3 GH03I005121 5121636 5125321 2.3 [{'connected_gene': 'ARL8B', 'score': 562.52}, {'connected_gene': 'EDEM1', 'score': 16.96}, {'connected_gene': 'ENSG00000233912', 'score': 11.81}, {'connected_gene': 'SETMAR', 'score': 10.79}]
chr3 GH03I005220 5219795 5223175 0.57 [{'connected_gene': 'ARL8B', 'score': 7.78}, {'connected_gene': 'PIR54874', 'score': 0.44}, {'connected_gene': 'GC03P005243', 'score': 0.34}, {'connected_gene': 'EDEM1', 'score': 0.29}]
chr3 GH03I005151 5151475 5153118 0.59 [{'connected_gene': 'ARL8B', 'score': 16.71}, {'connected_gene': 'ENSG00000233912', 'score': 11.89}, {'connected_gene': 'EDEM1', 'score': 11.89}]
chr3 GH03I005133 5133601 5134400 0.69 [{'connected_gene': 'ARL8B', 'score': 21.96}, {'connected_gene': 'EDEM1', 'score': 5.18}, {'connected_gene': 'ENSG00000233912', 'score': 0.23}]
chr3 GH03I005144 5144001 5145599 1.04 [{'connected_gene': 'ARL8B', 'score': 15.64}, {'connected_gene': 'ENSG00000233912', 'score': 12.14}, {'connected_gene': 'EDEM1', 'score': 12.14}]
chr3 GH03I005154 5154369 5156126 0.46 [{'connected_gene': 'ARL8B', 'score': 20.19}, {'connected_gene': 'EDEM1', 'score': 16.81}, {'connected_gene': 'ENSG00000233912', 'score': 11.9}]
chr3 GH03I004990 4990089 4990446 0.87 [{'connected_gene': 'ARL8B', 'score': 16.42}, {'connected_gene': 'ENSG00000235978', 'score': 10.82}, {'connected_gene': 'BHLHE40', 'score': 7.14}, {'connected_gene': 'EDEM1', 'score': 5.31}, {'connected_gene': 'BHLHE40-AS1', 'score': 0.39}, {'connected_gene': 'LOC105376934', 'score': 0.28}]
chr3 GH03I004717 4717913 4723599 1.66 [{'connected_gene': 'ARL8B', 'score': 21.69}, {'connected_gene': 'BHLHE40', 'score': 17.82}, {'connected_gene': 'EGOT', 'score': 12.77}, {'connected_gene': 'BHLHE40-AS1', 'score': 12.0}, {'connected_gene': 'ENSG00000235978', 'score': 11.99}, {'connected_gene': 'EDEM1', 'score': 5.84}, {'connected_gene': 'ENSG00000275981', 'score': 0.31}, {'connected_gene': 'LOC105376933', 'score': 0.12}, {'connected_gene': 'ITPR1', 'score': 0.07}]
chr3 GH03I004738 4738778 4743730 1.82 [{'connected_gene': 'ARL8B', 'score': 18.09}, {'connected_gene': 'ENSG00000235978', 'score': 11.09}, {'connected_gene': 'SETMAR', 'score': 10.81}, {'connected_gene': 'BHLHE40', 'score': 6.99}, {'connected_gene': 'EDEM1', 'score': 6.76}, {'connected_gene': 'ITPR1', 'score': 1.95}, {'connected_gene': 'ENSG00000275981', 'score': 0.44}, {'connected_gene': 'LOC105376933', 'score': 0.1}]
chr3 GH03I004866 4866161 4870138 1.79 [{'connected_gene': 'ARL8B', 'score': 28.36}, {'connected_gene': 'EGOT', 'score': 10.82}, {'connected_gene': 'BHLHE40', 'score': 9.83}, {'connected_gene': 'EDEM1', 'score': 7.22}, {'connected_gene': 'ITPR1', 'score': 1.54}, {'connected_gene': 'ENSG00000235978', 'score': 0.37}]
chr3 GH03I004474 4474001 4475664 1.38 [{'connected_gene': 'ITPR1', 'score': 15.98}, {'connected_gene': 'EDEM1', 'score': 9.94}, {'connected_gene': 'SUMF1', 'score': 0.44}, {'connected_gene': 'ITPR1-AS1', 'score': 0.37}]
chr3 GH03I004491 4491665 4496656 2.3 [{'connected_gene': 'ITPR1', 'score': 569.6}, {'connected_gene': 'ITPR1-AS1', 'score': 550.77}, {'connected_gene': 'SUMF1', 'score': 22.08}, {'connected_gene': 'SETMAR', 'score': 20.04}, {'connected_gene': 'EDEM1', 'score': 10.54}, {'connected_gene': 'LOC105376933', 'score': 0.16}]
chr3 GH03I005213 5213298 5214047 0.66 [{'connected_gene': 'PIR54874', 'score': 0.77}, {'connected_gene': 'ENSG00000268509', 'score': 0.31}, {'connected_gene': 'EDEM1', 'score': 0.31}]
chr3 GH03I005218 5218420 5218893 0.76 [{'connected_gene': 'PIR54874', 'score': 0.77}, {'connected_gene': 'GC03P005243', 'score': 0.34}, {'connected_gene': 'EDEM1', 'score': 0.29}]
chr3 GH03I005204 5204893 5206271 0.95 [{'connected_gene': 'PIR54874', 'score': 0.39}, {'connected_gene': 'ENSG00000268509', 'score': 0.37}, {'connected_gene': 'EDEM1', 'score': 0.37}]
chr3 GH03I005219 5219023 5219552 0.43 [{'connected_gene': 'PIR54874', 'score': 0.77}, {'connected_gene': 'GC03P005243', 'score': 0.34}, {'connected_gene': 'EDEM1', 'score': 0.29}]
chr3 GH03I005215 5213096 5213245 0.58 [{'connected_gene': 'PIR54874', 'score': 0.77}, {'connected_gene': 'ENSG00000268509', 'score': 0.34}, {'connected_gene': 'EDEM1', 'score': 0.31}]
chr3 GH03I005214 5214155 5217747 0.31 [{'connected_gene': 'PIR54874', 'score': 550.77}, {'connected_gene': 'ARL8B', 'score': 11.19}, {'connected_gene': 'EDEM1', 'score': 10.73}, {'connected_gene': 'GC03P005243', 'score': 0.31}]
chr3 GH03I004748 4748160 4754562 1.66 [{'connected_gene': 'ENSG00000275981', 'score': 550.77}, {'connected_gene': 'EGOT', 'score': 550.77}, {'connected_gene': 'ENSG00000235978', 'score': 10.87}, {'connected_gene': 'BHLHE40', 'score': 2.88}, {'connected_gene': 'EDEM1', 'score': 1.65}, {'connected_gene': 'ITPR1', 'score': 0.07}]

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