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
ENST00000261745 [[112464499, 112467457], [112471036, 112471183], [112477032, 112477143], [112478284, 112478382], [112479842, 112479908], [112480891, 112481015], [112481428, 112481672], [112485468, 112485594], [112486095, 112486247], [112491361, 112491461], [112492191, 112492372], [112498073, 112498163], [112498984, 112499192], [112506683, 112506796], [112509698, 112509868], [112512478, 112512568], [112513481, 112513593], [112515991, 112516070], [112516437, 112516545], [112518863, 112518938], [112525486, 112525605], [112528529, 112528668], [112530854, 112530940], [112546519, 112546826]] [[112467334, 112467457], [112471036, 112471183], [112477032, 112477143], [112478284, 112478382], [112479842, 112479908], [112480891, 112481015], [112481428, 112481672], [112485468, 112485594], [112486095, 112486247], [112491361, 112491461], [112492191, 112492372], [112498073, 112498163], [112498984, 112499192], [112506683, 112506796], [112509698, 112509868], [112512478, 112512568], [112513481, 112513593], [112515991, 112516070], [112516437, 112516545], [112518863, 112518938], [112525486, 112525605], [112528529, 112528668], [112530854, 112530940], [112546519, 112546577]]
ENST00000552527 [[112465591, 112467457], [112471036, 112471183], [112477032, 112478382], [112479842, 112479908], [112480891, 112481015], [112481428, 112481672], [112485468, 112485594], [112486095, 112486247], [112491361, 112491461], [112492191, 112492372], [112498073, 112498163], [112498984, 112499192], [112506683, 112506796], [112509698, 112509868], [112512478, 112512568], [112513481, 112513593], [112515991, 112516070], [112516437, 112516545], [112518863, 112518938], [112525486, 112525605], [112528529, 112528668], [112530854, 112530940], [112546519, 112546589]] None
ENST00000548181 [[112467190, 112467457], [112471036, 112473209]] None
ENST00000549711 [[112467353, 112467457], [112471036, 112471183], [112477032, 112477143], [112478284, 112478382], [112479842, 112479908], [112480891, 112481015], [112481428, 112481672], [112485468, 112485594], [112486095, 112486247], [112487286, 112487415], [112491361, 112491461], [112492191, 112492372], [112498073, 112498163], [112498984, 112499192], [112506683, 112506796], [112509698, 112509868], [112512478, 112512568], [112513481, 112513593], [112515991, 112516070], [112516437, 112516545], [112518863, 112518938], [112528529, 112528668], [112530854, 112530940], [112546519, 112546600]] [[112518918, 112518938], [112528529, 112528668], [112530854, 112530940], [112546519, 112546577]]
ENST00000550701 [[112477065, 112477143], [112478284, 112478382], [112479842, 112480115]] None
ENST00000551858 [[112477073, 112477143], [112478284, 112478382], [112479842, 112479908], [112480891, 112481015], [112481428, 112481672], [112485468, 112485594], [112486095, 112486247], [112491361, 112491461], [112492191, 112492372], [112498073, 112498163], [112498984, 112499192], [112506683, 112506796], [112509698, 112509868], [112512478, 112512568], [112513481, 112513593], [112515991, 112516070], [112516437, 112516545], [112518863, 112518938], [112525486, 112525605], [112528529, 112528668], [112530854, 112530940], [112535044, 112535245], [112546519, 112546583]] [[112535189, 112535245], [112546519, 112546577]]
ENST00000547133 [[112516485, 112516545], [112518863, 112518938], [112525486, 112525605], [112528529, 112528668], [112546519, 112546547]] [[112516485, 112516545], [112518863, 112518938], [112525486, 112525605], [112528529, 112528668], [112546519, 112546547]]
ENST00000548627 [[112528115, 112528668], [112546519, 112546574]] None
NM_024953 [[112464492, 112467457], [112471036, 112471183], [112477032, 112477143], [112478284, 112478382], [112479842, 112479908], [112480891, 112481015], [112481428, 112481672], [112485468, 112485594], [112486095, 112486247], [112491361, 112491461], [112492191, 112492372], [112498073, 112498163], [112498984, 112499192], [112506683, 112506796], [112509698, 112509868], [112512478, 112512568], [112513481, 112513593], [112515991, 112516070], [112516437, 112516545], [112518863, 112518938], [112525486, 112525605], [112528529, 112528668], [112530854, 112530940], [112546519, 112546635]] [[112467334, 112467457], [112471036, 112471183], [112477032, 112477143], [112478284, 112478382], [112479842, 112479908], [112480891, 112481015], [112481428, 112481672], [112485468, 112485594], [112486095, 112486247], [112491361, 112491461], [112492191, 112492372], [112498073, 112498163], [112498984, 112499192], [112506683, 112506796], [112509698, 112509868], [112512478, 112512568], [112513481, 112513593], [112515991, 112516070], [112516437, 112516545], [112518863, 112518938], [112525486, 112525605], [112528529, 112528668], [112530854, 112530940], [112546519, 112546577]]
Promoter
Chrom Start End Description
chr12 112546577 112546607 CAGE_peak_1_at_NAA25_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I112141 112141490 112142616 0.31 [{'connected_gene': 'TMEM116', 'score': 26.92}, {'connected_gene': 'NAA25', 'score': 13.17}, {'connected_gene': 'GC12P112151', 'score': 0.44}, {'connected_gene': 'TRAFD1', 'score': 0.37}]
chr12 GH12I112025 112025229 112027229 0.57 [{'connected_gene': 'TMEM116', 'score': 27.59}, {'connected_gene': 'ALDH2', 'score': 13.29}, {'connected_gene': 'ADAM1A', 'score': 5.49}, {'connected_gene': 'ENSG00000274227', 'score': 0.44}, {'connected_gene': 'MIR3657', 'score': 0.39}, {'connected_gene': 'NAA25', 'score': 0.18}]
chr12 GH12I112011 112011401 112015726 2.33 [{'connected_gene': 'TMEM116', 'score': 577.97}, {'connected_gene': 'ERP29', 'score': 550.77}, {'connected_gene': 'RPL6', 'score': 20.27}, {'connected_gene': 'HSPA8P14', 'score': 19.78}, {'connected_gene': 'MAPKAPK5', 'score': 14.65}, {'connected_gene': 'HECTD4', 'score': 12.1}, {'connected_gene': 'ADAM1A', 'score': 11.52}, {'connected_gene': 'NAA25', 'score': 11.04}, {'connected_gene': 'TRAFD1', 'score': 10.07}, {'connected_gene': 'RPS2P41', 'score': 9.87}, {'connected_gene': 'GC12P112008', 'score': 0.77}, {'connected_gene': 'ENSG00000274227', 'score': 0.44}]
chr12 GH12I112095 112095504 112097900 1.45 [{'connected_gene': 'TMEM116', 'score': 5.29}, {'connected_gene': 'TRAFD1', 'score': 4.86}, {'connected_gene': 'ALDH2', 'score': 1.46}, {'connected_gene': 'NAA25', 'score': 0.39}, {'connected_gene': 'ENSG00000200688', 'score': 0.31}]
chr12 GH12I112152 112152144 112155002 0.43 [{'connected_gene': 'ADAM1A', 'score': 25.77}, {'connected_gene': 'ATXN2', 'score': 15.3}, {'connected_gene': 'NAA25', 'score': 11.73}, {'connected_gene': 'HECTD4', 'score': 10.23}, {'connected_gene': 'ALDH2', 'score': 9.93}, {'connected_gene': 'TMEM116', 'score': 5.23}, {'connected_gene': 'ENSG00000200135', 'score': 0.77}, {'connected_gene': 'MIR6861', 'score': 0.44}, {'connected_gene': 'TRAFD1', 'score': 0.31}]
chr12 GH12I111331 111331277 111331426 0.6 [{'connected_gene': 'MAPKAPK5', 'score': 16.23}, {'connected_gene': 'NAA25', 'score': 13.25}, {'connected_gene': 'FAM109A', 'score': 4.2}, {'connected_gene': 'RNA5SP373', 'score': 0.44}, {'connected_gene': 'LOC105369983', 'score': 0.39}, {'connected_gene': 'GC12M111219', 'score': 0.28}, {'connected_gene': 'CUX2', 'score': 0.06}]
chr12 GH12I111903 111903904 111904247 0.27 [{'connected_gene': 'MAPKAPK5', 'score': 13.88}, {'connected_gene': 'MAPKAPK5-AS1', 'score': 12.1}, {'connected_gene': 'ATXN2', 'score': 3.12}, {'connected_gene': 'NAA25', 'score': 1.97}, {'connected_gene': 'HECTD4', 'score': 1.54}, {'connected_gene': 'BRAP', 'score': 1.52}, {'connected_gene': 'TMEM116', 'score': 1.36}, {'connected_gene': 'PIR61051', 'score': 0.77}, {'connected_gene': 'GC12P111923', 'score': 0.37}]
chr12 GH12I112106 112106498 112111097 2.23 [{'connected_gene': 'NAA25', 'score': 550.77}, {'connected_gene': 'GC12P112109', 'score': 550.77}, {'connected_gene': 'TMEM116', 'score': 26.93}, {'connected_gene': 'ADAM1A', 'score': 6.08}, {'connected_gene': 'ENSG00000200688', 'score': 0.28}]
chr12 GH12I112134 112134752 112135823 0.43 [{'connected_gene': 'NAA25', 'score': 12.51}, {'connected_gene': 'ERP29', 'score': 10.65}, {'connected_gene': 'TMEM116', 'score': 10.65}, {'connected_gene': 'ADAM1A', 'score': 5.59}, {'connected_gene': 'TRAFD1', 'score': 0.44}, {'connected_gene': 'GC12P112151', 'score': 0.39}]
chr12 GH12I112140 112140401 112140800 0.43 [{'connected_gene': 'NAA25', 'score': 13.17}, {'connected_gene': 'GC12P112151', 'score': 0.44}, {'connected_gene': 'TRAFD1', 'score': 0.37}]
chr12 GH12I112105 112105085 112105923 0.2 [{'connected_gene': 'NAA25', 'score': 0.77}, {'connected_gene': 'ENSG00000200688', 'score': 0.28}]
chr12 GH12I112407 112407240 112410226 2.28 [{'connected_gene': 'RPL6', 'score': 572.02}, {'connected_gene': 'ADAM1A', 'score': 30.79}, {'connected_gene': 'MAPKAPK5', 'score': 25.9}, {'connected_gene': 'SLC8B1', 'score': 20.09}, {'connected_gene': 'NAA25', 'score': 13.64}, {'connected_gene': 'RPS2P41', 'score': 9.78}, {'connected_gene': 'TMEM116', 'score': 5.17}, {'connected_gene': 'PTPN11', 'score': 0.44}, {'connected_gene': 'GC12M112409', 'score': 0.39}, {'connected_gene': 'HECTD4', 'score': 0.31}]
chr12 GH12I112386 112386692 112388000 1.19 [{'connected_gene': 'HECTD4', 'score': 17.57}, {'connected_gene': 'ATXN2', 'score': 14.12}, {'connected_gene': 'ADAM1A', 'score': 12.54}, {'connected_gene': 'NAA25', 'score': 10.85}, {'connected_gene': 'GC12P112372', 'score': 0.37}, {'connected_gene': 'PTPN11', 'score': 0.29}]
chr12 GH12I112124 112124662 112132060 2.45 [{'connected_gene': 'TRAFD1', 'score': 550.77}, {'connected_gene': 'TMEM116', 'score': 37.45}, {'connected_gene': 'MAPKAPK5', 'score': 15.99}, {'connected_gene': 'BRAP', 'score': 14.97}, {'connected_gene': 'ADAM1A', 'score': 11.4}, {'connected_gene': 'NAA25', 'score': 10.7}, {'connected_gene': 'ERP29', 'score': 10.66}, {'connected_gene': 'GC12P112151', 'score': 0.34}]
chr12 GH12I112160 112160391 112164592 0.49 [{'connected_gene': 'MIR6861', 'score': 550.77}, {'connected_gene': 'TMEM116', 'score': 37.34}, {'connected_gene': 'ADAM1A', 'score': 19.97}, {'connected_gene': 'TRAFD1', 'score': 11.85}, {'connected_gene': 'NAA25', 'score': 11.8}, {'connected_gene': 'ALDH2', 'score': 11.42}, {'connected_gene': 'ERP29', 'score': 10.54}, {'connected_gene': 'ENSG00000200135', 'score': 0.39}, {'connected_gene': 'HECTD4', 'score': 0.08}]
chr12 GH12I112084 112084077 112084206 0.89 [{'connected_gene': 'ENSG00000200688', 'score': 0.37}, {'connected_gene': 'NAA25', 'score': 0.34}]

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