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
ENST00000428221 [[11584500, 11586649], [11587752, 11587900], [11590137, 11590252], [11591776, 11591932], [11593707, 11593848], [11597304, 11597359], [11605897, 11606272]] [[11593819, 11593848], [11597304, 11597359], [11605897, 11606005]]
ENST00000381525 [[11584500, 11586649], [11587752, 11587900], [11590137, 11590252], [11591776, 11591932], [11593707, 11593924], [11597304, 11597359], [11605897, 11606275]] [[11586602, 11586649], [11587752, 11587900], [11590137, 11590252], [11591776, 11591932], [11593707, 11593924], [11597304, 11597359], [11605897, 11606005]]
ENST00000444832 [[11584500, 11586649], [11587752, 11587900], [11590137, 11590252], [11591776, 11591932], [11593707, 11593924], [11597304, 11597359], [11598406, 11598477], [11605897, 11606282]] [[11598432, 11598477], [11605897, 11606005]]
ENST00000455198 [[11585425, 11586649], [11587752, 11587900], [11590137, 11590252], [11591776, 11591932], [11593707, 11593924], [11595467, 11595600], [11597304, 11597359], [11598406, 11598477], [11605897, 11606005]] [[11598432, 11598477], [11605897, 11606005]]
ENST00000471343 [[11586322, 11586649], [11587752, 11587900], [11591327, 11591822]] None
ENST00000362009 [[11586369, 11586649], [11587752, 11587900], [11593707, 11593924], [11597304, 11597359], [11605897, 11606275]] [[11587878, 11587900], [11593707, 11593924], [11597304, 11597359], [11605897, 11606005]]
ENST00000542100 [[11586602, 11586649], [11587752, 11587900], [11590137, 11590252], [11591776, 11591932], [11593707, 11593924], [11595467, 11595600], [11597304, 11597359], [11598406, 11598477], [11605897, 11606005]] [[11586602, 11586649], [11587752, 11587900], [11590137, 11590252], [11591776, 11591932], [11593707, 11593862]]
ENST00000546212 [[11586602, 11586649], [11587752, 11587900], [11590137, 11590252], [11591776, 11591932], [11593707, 11593924], [11605897, 11606005]] [[11586602, 11586649], [11587752, 11587900], [11590137, 11590252], [11591776, 11591932], [11593707, 11593862]]
ENST00000307236 [[11586602, 11586649], [11587752, 11587900], [11590137, 11590252], [11591776, 11591932], [11593707, 11593924], [11597304, 11597359], [11598406, 11598477], [11605897, 11606005]] [[11586602, 11586649], [11587752, 11587900], [11590137, 11590252], [11591776, 11591932], [11593707, 11593924], [11597304, 11597359], [11598406, 11598418]]
ENST00000437573 [[11586602, 11586649], [11587752, 11587900], [11590137, 11590252], [11591776, 11591932], [11593707, 11593924], [11595467, 11595600], [11597304, 11597359], [11605897, 11606279]] [[11595595, 11595600], [11597304, 11597359], [11605897, 11606005]]
ENST00000421117 [[11587881, 11587900], [11590137, 11590252], [11591776, 11591932], [11593707, 11593924], [11605897, 11606297]] [[11593915, 11593924], [11605897, 11606005]]
ENST00000468775 [[11591475, 11591932], [11593707, 11593924], [11597304, 11597359], [11605897, 11606229]] None
ENST00000498701 [[11597136, 11597359], [11605897, 11606284]] None
NM_001278277 [[11584500, 11586649], [11587752, 11587900], [11590137, 11590252], [11591776, 11591932], [11593707, 11593924], [11595467, 11595600], [11597304, 11597359], [11598406, 11598477], [11605897, 11606303]] [[11586602, 11586649], [11587752, 11587900], [11590137, 11590252], [11591776, 11591932], [11593707, 11593862]]
NM_001278275 [[11584500, 11586649], [11587752, 11587900], [11590137, 11590252], [11591776, 11591932], [11593707, 11593924], [11597304, 11597359], [11598406, 11598477], [11605897, 11606303]] [[11586602, 11586649], [11587752, 11587900], [11590137, 11590252], [11591776, 11591932], [11593707, 11593924], [11597304, 11597359], [11598406, 11598418]]
NM_001278276 [[11584500, 11586649], [11587752, 11587900], [11590137, 11590252], [11591776, 11591932], [11593707, 11593924], [11595467, 11595600], [11597304, 11597359], [11605897, 11606303]] [[11586602, 11586649], [11587752, 11587900], [11590137, 11590252], [11591776, 11591932], [11593707, 11593862]]
NM_198256 [[11584500, 11586649], [11587752, 11587900], [11590137, 11590252], [11591776, 11591932], [11593707, 11593924], [11597304, 11597359], [11605897, 11606303]] [[11586602, 11586649], [11587752, 11587900], [11590137, 11590252], [11591776, 11591932], [11593707, 11593924], [11597304, 11597359], [11605897, 11606005]]
NR_103490 [[11584500, 11586649], [11587752, 11587900], [11593707, 11593924], [11597304, 11597359], [11605897, 11606303]] None
NM_212540 [[11584500, 11586649], [11587752, 11587900], [11590137, 11590252], [11591776, 11591932], [11593707, 11593848], [11597304, 11597359], [11605897, 11606303]] [[11586602, 11586649], [11587752, 11587900], [11590137, 11590252], [11591776, 11591856]]
NM_001278278 [[11584500, 11586649], [11587752, 11587900], [11590137, 11590252], [11591776, 11591932], [11593707, 11593924], [11605897, 11606303]] [[11586602, 11586649], [11587752, 11587900], [11590137, 11590252], [11591776, 11591932], [11593707, 11593862]]
Promoter
Chrom Start End Description
chr2 11605966 11605981 CAGE_peak_3_at_E2F6_5end
chr2 11606283 11606289 CAGE_peak_1_at_E2F6_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I011419 11419513 11420658 0.4 [{'connected_gene': 'ROCK2', 'score': 11.61}, {'connected_gene': 'RNU6-1081P', 'score': 11.5}, {'connected_gene': 'E2F6', 'score': 7.61}, {'connected_gene': 'LOC105373429', 'score': 0.39}, {'connected_gene': 'GC02M011344', 'score': 0.39}]
chr2 GH02I011422 11422274 11423323 0.84 [{'connected_gene': 'ROCK2', 'score': 11.61}, {'connected_gene': 'RNU6-1081P', 'score': 11.5}, {'connected_gene': 'E2F6', 'score': 7.81}, {'connected_gene': 'GC02M011344', 'score': 0.39}, {'connected_gene': 'LOC105373429', 'score': 0.37}]
chr2 GH02I011696 11696268 11699872 1.49 [{'connected_gene': 'LPIN1', 'score': 19.01}, {'connected_gene': 'LOC101929752', 'score': 12.74}, {'connected_gene': 'ENSG00000230790', 'score': 12.1}, {'connected_gene': 'NTSR2', 'score': 11.51}, {'connected_gene': 'CDK8P1', 'score': 11.49}, {'connected_gene': 'E2F6', 'score': 7.52}, {'connected_gene': 'LOC100506405', 'score': 0.37}]
chr2 GH02I011742 11742241 11751635 2.83 [{'connected_gene': 'LPIN1', 'score': 572.03}, {'connected_gene': 'ENSG00000230790', 'score': 550.77}, {'connected_gene': 'LOC101929752', 'score': 11.93}, {'connected_gene': 'E2F6', 'score': 6.63}, {'connected_gene': 'GC02M011761', 'score': 0.37}]
chr2 GH02I011701 11701299 11702564 1.28 [{'connected_gene': 'LPIN1', 'score': 16.34}, {'connected_gene': 'LOC101929752', 'score': 12.77}, {'connected_gene': 'ENSG00000230790', 'score': 12.05}, {'connected_gene': 'LOC100506405', 'score': 11.22}, {'connected_gene': 'NTSR2', 'score': 11.02}, {'connected_gene': 'CDK8P1', 'score': 11.01}, {'connected_gene': 'E2F6', 'score': 6.99}]
chr2 GH02I011479 11478990 11479597 0.92 [{'connected_gene': 'LPIN1', 'score': 10.73}, {'connected_gene': 'LOC100506405', 'score': 10.73}, {'connected_gene': 'GREB1', 'score': 0.77}, {'connected_gene': 'E2F6', 'score': 0.39}]
chr2 GH02I011478 11478015 11478204 1.03 [{'connected_gene': 'LPIN1', 'score': 10.73}, {'connected_gene': 'LOC100506405', 'score': 10.73}, {'connected_gene': 'GREB1', 'score': 0.77}, {'connected_gene': 'E2F6', 'score': 0.39}]
chr2 GH02I011465 11464965 11467075 2.11 [{'connected_gene': 'E2F6', 'score': 556.53}, {'connected_gene': 'NOL10', 'score': 11.48}, {'connected_gene': 'PIR33920', 'score': 0.34}, {'connected_gene': 'GC02M011446', 'score': 0.34}]
chr2 GH02I011487 11487844 11488712 0.58 [{'connected_gene': 'E2F6', 'score': 12.77}, {'connected_gene': 'LPIN1', 'score': 9.56}, {'connected_gene': 'LOC100506405', 'score': 9.56}, {'connected_gene': 'GREB1', 'score': 0.44}, {'connected_gene': 'GC02P011518', 'score': 0.31}]
chr2 GH02I011464 11464201 11464400 0.38 [{'connected_gene': 'E2F6', 'score': 550.77}, {'connected_gene': 'PIR33920', 'score': 0.37}, {'connected_gene': 'GC02M011446', 'score': 0.37}]
chr2 GH02I011203 11203333 11204468 1.23 [{'connected_gene': 'PQLC3', 'score': 15.57}, {'connected_gene': 'E2F6', 'score': 8.65}, {'connected_gene': 'GC02P011234', 'score': 0.29}, {'connected_gene': 'ROCK2', 'score': 0.11}]
chr2 GH02I011446 11446775 11446944 0.68 [{'connected_gene': 'PIR33920', 'score': 550.77}, {'connected_gene': 'GC02M011446', 'score': 550.77}, {'connected_gene': 'ROCK2', 'score': 11.84}, {'connected_gene': 'RNU6-1081P', 'score': 11.76}, {'connected_gene': 'E2F6', 'score': 0.37}]