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
ENST00000471646 [[30692199, 30693216], [30694654, 30694696], [30695195, 30695331], [30695542, 30695628], [30700188, 30700261], [30701771, 30701832], [30702309, 30702463], [30704685, 30704803], [30705145, 30705255], [30706843, 30706929], [30721530, 30721656], [30721793, 30722314]] [[30693075, 30693216], [30694654, 30694696], [30695195, 30695331], [30695542, 30695628], [30700188, 30700261], [30701771, 30701832], [30702309, 30702463], [30704685, 30704803], [30705145, 30705255], [30706843, 30706929], [30721530, 30721656], [30721793, 30721896]]
ENST00000341843 [[30692862, 30693216], [30694654, 30694696], [30695195, 30695331], [30695542, 30695628], [30700188, 30700261], [30701771, 30701832], [30702309, 30702463], [30704685, 30704803], [30705145, 30705255], [30706843, 30706929], [30721530, 30721656], [30726004, 30726065]] [[30693075, 30693216], [30694654, 30694696], [30695195, 30695331], [30695542, 30695628], [30700188, 30700261], [30701771, 30701832], [30702309, 30702463], [30704685, 30704803], [30705145, 30705255], [30706843, 30706929], [30721530, 30721656], [30726004, 30726065]]
ENST00000452278 [[30692862, 30693216], [30694654, 30694696], [30695195, 30695331], [30695542, 30695628], [30700188, 30700261], [30701771, 30701832], [30702309, 30702463], [30704685, 30704803], [30705145, 30705255], [30706843, 30706929], [30721530, 30721656], [30726004, 30726231], [30728806, 30728900], [30739559, 30739679]] [[30726220, 30726231], [30728806, 30728900], [30739559, 30739649]]
ENST00000348438 [[30692862, 30693216], [30694654, 30694696], [30695195, 30695331], [30695542, 30695628], [30700188, 30700261], [30701771, 30701832], [30702309, 30702463], [30704685, 30704803], [30705145, 30705255], [30706843, 30706929], [30721530, 30721656], [30728806, 30728900], [30739559, 30739719]] [[30693075, 30693216], [30694654, 30694696], [30695195, 30695331], [30695542, 30695628], [30700188, 30700261], [30701771, 30701832], [30702309, 30702463], [30704685, 30704803], [30705145, 30705255], [30706843, 30706929], [30721530, 30721656], [30728806, 30728900], [30739559, 30739649]]
ENST00000506074 [[30693075, 30693216], [30694313, 30694497], [30694654, 30694696], [30695195, 30695331], [30695542, 30695628], [30700188, 30700261], [30701771, 30701832], [30702309, 30702463], [30704685, 30704803], [30705145, 30705255], [30706843, 30706929], [30721530, 30721656], [30721793, 30721896]] [[30694479, 30694497], [30694654, 30694696], [30695195, 30695331], [30695542, 30695628], [30700188, 30700261], [30701771, 30701832], [30702309, 30702463], [30704685, 30704803], [30705145, 30705255], [30706843, 30706929], [30721530, 30721656], [30721793, 30721896]]
ENST00000423776 [[30721835, 30721948], [30726004, 30726231], [30728806, 30728900], [30739559, 30739661]] [[30726220, 30726231], [30728806, 30728900], [30739559, 30739649]]
ENST00000445981 [[30721835, 30721948], [30728806, 30728900], [30739559, 30739661]] [[30721835, 30721948], [30728806, 30728900], [30739559, 30739649]]
ENST00000462882 [[30726023, 30726231], [30728429, 30728624], [30728806, 30728900], [30739559, 30739745]] None
NM_001202483 [[30691558, 30693216], [30694313, 30694424], [30694654, 30694696], [30695195, 30695331], [30695542, 30695628], [30700188, 30700261], [30701771, 30701832], [30702309, 30702463], [30704685, 30704803], [30705145, 30705255], [30706843, 30706929], [30721530, 30721656], [30721793, 30722141]] [[30694355, 30694424], [30694654, 30694696], [30695195, 30695331], [30695542, 30695628], [30700188, 30700261], [30701771, 30701832], [30702309, 30702463], [30704685, 30704803], [30705145, 30705255], [30706843, 30706929], [30721530, 30721656], [30721793, 30721896]]
NM_001883 [[30691558, 30693216], [30694654, 30694696], [30695195, 30695331], [30695542, 30695628], [30700188, 30700261], [30701771, 30701832], [30702309, 30702463], [30704685, 30704803], [30705145, 30705255], [30706843, 30706929], [30721530, 30721656], [30721793, 30722141]] [[30693075, 30693216], [30694654, 30694696], [30695195, 30695331], [30695542, 30695628], [30700188, 30700261], [30701771, 30701832], [30702309, 30702463], [30704685, 30704803], [30705145, 30705255], [30706843, 30706929], [30721530, 30721656], [30721793, 30721896]]
NM_001202482 [[30691558, 30693216], [30694654, 30694696], [30695195, 30695331], [30695542, 30695628], [30700188, 30700261], [30701771, 30701832], [30702309, 30702463], [30704685, 30704803], [30705145, 30705252], [30706843, 30706929], [30721530, 30721656], [30721793, 30722141]] [[30693075, 30693216], [30694654, 30694696], [30695195, 30695331], [30695542, 30695628], [30700188, 30700261], [30701771, 30701832], [30702309, 30702463], [30704685, 30704803], [30705145, 30705252], [30706843, 30706929], [30721530, 30721656], [30721793, 30721896]]
NM_001202481 [[30691558, 30693216], [30694654, 30694696], [30695195, 30695331], [30695542, 30695628], [30700188, 30700261], [30701771, 30701832], [30702309, 30702463], [30704685, 30704803], [30705145, 30705255], [30706843, 30706929], [30721530, 30721656], [30726004, 30726231], [30728806, 30728900], [30739559, 30739719]] [[30693075, 30693216], [30694654, 30694696], [30695195, 30695331], [30695542, 30695628], [30700188, 30700261], [30701771, 30701832], [30702309, 30702463], [30704685, 30704803], [30705145, 30705255], [30706843, 30706929], [30721530, 30721656], [30726004, 30726065]]
NM_001202475 [[30691558, 30693216], [30694654, 30694696], [30695195, 30695331], [30695542, 30695628], [30700188, 30700261], [30701771, 30701832], [30702309, 30702463], [30704685, 30704803], [30705145, 30705255], [30706843, 30706929], [30721530, 30721656], [30728806, 30728900], [30739559, 30739719]] [[30693075, 30693216], [30694654, 30694696], [30695195, 30695331], [30695542, 30695628], [30700188, 30700261], [30701771, 30701832], [30702309, 30702463], [30704685, 30704803], [30705145, 30705255], [30706843, 30706929], [30721530, 30721656], [30728806, 30728900], [30739559, 30739649]]
Promoter
Chrom Start End Description
chr7 30722064 30722077 CAGE_peak_2_at_CRHR2_5end
chr7 30722089 30722114 CAGE_peak_1_at_CRHR2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I030814 30814595 30817832 0.71 [{'connected_gene': 'MINDY4', 'score': 18.22}, {'connected_gene': 'ENSG00000250424', 'score': 11.28}, {'connected_gene': 'AQP1', 'score': 11.16}, {'connected_gene': 'CRHR2', 'score': 5.48}, {'connected_gene': 'ENSG00000229263', 'score': 0.39}, {'connected_gene': 'GC07M030827', 'score': 0.39}, {'connected_gene': 'INMT-MINDY4', 'score': 0.21}]
chr7 GH07I030755 30755261 30758005 0.94 [{'connected_gene': 'MINDY4', 'score': 19.7}, {'connected_gene': 'CRHR2', 'score': 11.27}, {'connected_gene': 'INMT', 'score': 9.16}, {'connected_gene': 'INMT-MINDY4', 'score': 0.77}]
chr7 GH07I030737 30737923 30739017 0.38 [{'connected_gene': 'MINDY4', 'score': 18.02}, {'connected_gene': 'CRHR2', 'score': 15.87}, {'connected_gene': 'ENSG00000223419', 'score': 0.77}, {'connected_gene': 'LOC105375219', 'score': 0.39}, {'connected_gene': 'LOC105375220', 'score': 0.26}, {'connected_gene': 'INMT', 'score': 0.26}]
chr7 GH07I030740 30740400 30740754 0.96 [{'connected_gene': 'MINDY4', 'score': 19.3}, {'connected_gene': 'CRHR2', 'score': 11.55}, {'connected_gene': 'ENSG00000223419', 'score': 0.77}, {'connected_gene': 'LOC105375219', 'score': 0.39}, {'connected_gene': 'LOC105375220', 'score': 0.26}, {'connected_gene': 'INMT', 'score': 0.26}]
chr7 GH07I030693 30693819 30695420 0.52 [{'connected_gene': 'MINDY4', 'score': 9.9}, {'connected_gene': 'INMT', 'score': 0.77}, {'connected_gene': 'GC07P030686', 'score': 0.44}, {'connected_gene': 'CRHR2', 'score': 0.44}]
chr7 GH07I030993 30993701 30994081 0.71 [{'connected_gene': 'CRHR2', 'score': 2.22}, {'connected_gene': 'MINDY4', 'score': 1.24}, {'connected_gene': 'LOC105375221', 'score': 0.44}, {'connected_gene': 'LOC105375222', 'score': 0.39}]
chr7 GH07I030767 30767019 30768399 0.31 [{'connected_gene': 'CRHR2', 'score': 10.35}, {'connected_gene': 'INMT', 'score': 5.5}, {'connected_gene': 'MINDY4', 'score': 0.77}, {'connected_gene': 'INMT-MINDY4', 'score': 0.37}]
chr7 GH07I030700 30700265 30700414 0.31 [{'connected_gene': 'CRHR2', 'score': 550.77}, {'connected_gene': 'LOC105375220', 'score': 0.77}, {'connected_gene': 'INMT', 'score': 0.77}, {'connected_gene': 'LOC105375219', 'score': 0.31}]
chr7 GH07I030681 30681153 30683097 1.22 [{'connected_gene': 'CRHR2', 'score': 550.37}, {'connected_gene': 'ENSG00000244480', 'score': 4.6}, {'connected_gene': 'GC07P030686', 'score': 0.77}, {'connected_gene': 'PIR57163', 'score': 0.18}]
chr7 GH07I030748 30748269 30754061 1.5 [{'connected_gene': 'INMT', 'score': 559.27}, {'connected_gene': 'INMT-MINDY4', 'score': 550.77}, {'connected_gene': 'MINDY4', 'score': 28.58}, {'connected_gene': 'CRHR2', 'score': 10.67}, {'connected_gene': 'ENSG00000244480', 'score': 4.68}, {'connected_gene': 'ENSG00000223419', 'score': 0.44}, {'connected_gene': 'LOC105375220', 'score': 0.23}]
chr7 GH07I030726 30726391 30728203 1.04 [{'connected_gene': 'LOC105375219', 'score': 550.77}, {'connected_gene': 'CRHR2', 'score': 27.64}, {'connected_gene': 'ENSG00000264520', 'score': 22.61}, {'connected_gene': 'PLEKHA8', 'score': 21.81}, {'connected_gene': 'FKBP14', 'score': 13.07}, {'connected_gene': 'ENSG00000226874', 'score': 9.78}, {'connected_gene': 'ENSG00000223419', 'score': 0.37}, {'connected_gene': 'LOC105375220', 'score': 0.31}, {'connected_gene': 'INMT', 'score': 0.31}]
chr7 GH07I030593 30593344 30598963 2.31 [{'connected_gene': 'ENSG00000196295', 'score': 622.52}, {'connected_gene': 'GARS', 'score': 550.77}, {'connected_gene': 'GC07M030589', 'score': 550.77}, {'connected_gene': 'ZNRF2P2', 'score': 15.84}, {'connected_gene': 'ENSG00000244480', 'score': 13.74}, {'connected_gene': 'FKBP14', 'score': 13.06}, {'connected_gene': 'ENSG00000264520', 'score': 11.01}, {'connected_gene': 'PLEKHA8', 'score': 10.34}, {'connected_gene': 'CRHR2', 'score': 5.01}, {'connected_gene': 'PIR57163', 'score': 0.77}]
chr7 GH07I030688 30688386 30689457 0.38 [{'connected_gene': 'ENSG00000196295', 'score': 15.18}, {'connected_gene': 'CRHR2', 'score': 4.98}, {'connected_gene': 'ENSG00000244480', 'score': 4.58}, {'connected_gene': 'ENSG00000226874', 'score': 4.45}, {'connected_gene': 'GC07P030686', 'score': 0.77}, {'connected_gene': 'INMT', 'score': 0.44}]
chr7 GH07I030851 30851520 30853763 0.6 [{'connected_gene': 'ENSG00000250424', 'score': 550.77}, {'connected_gene': 'INMT', 'score': 4.6}, {'connected_gene': 'CRHR2', 'score': 4.42}, {'connected_gene': 'PIR34848', 'score': 0.28}, {'connected_gene': 'MINDY4', 'score': 0.18}, {'connected_gene': 'INMT-MINDY4', 'score': 0.15}]