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
ENST00000452722 [[115039955, 115047312], [115049363, 115049495], [115080293, 115080377], [115085327, 115085500], [115088611, 115088711], [115099832, 115099991], [115102072, 115102210], [115109219, 115109372], [115110993, 115111140], [115374988, 115375133]] [[115047193, 115047312], [115049363, 115049495], [115080293, 115080377], [115085327, 115085500], [115088611, 115088711], [115099832, 115099991], [115102072, 115102210], [115109219, 115109372], [115110993, 115111140], [115374988, 115375112]]
ENST00000537140 [[115039955, 115040346], [115049363, 115049495], [115085327, 115085500], [115088611, 115088711], [115099832, 115099991], [115102072, 115102210], [115109219, 115109372], [115110993, 115111140], [115374988, 115375241]] None
ENST00000542447 [[115044344, 115047312], [115049363, 115049495], [115085327, 115085500], [115088611, 115088711], [115099832, 115099991], [115102072, 115102210], [115109219, 115109372], [115110993, 115111140], [115374988, 115375241]] [[115047193, 115047312], [115049363, 115049495], [115085327, 115085500], [115088611, 115088711], [115099832, 115099991], [115102072, 115102210], [115109219, 115109372], [115110993, 115111140], [115374988, 115375112]]
ENST00000537058 [[115045026, 115047312], [115049363, 115049495], [115069125, 115069158], [115080293, 115080377], [115085327, 115085500], [115088611, 115088711], [115099832, 115099991], [115102072, 115102210], [115109219, 115109372], [115110993, 115111140], [115374988, 115375133]] [[115047193, 115047312], [115049363, 115049495], [115069125, 115069158], [115080293, 115080377], [115085327, 115085500], [115088611, 115088711], [115099832, 115099991], [115102072, 115102210], [115109219, 115109372], [115110993, 115111140], [115374988, 115375112]]
ENST00000536727 [[115045026, 115047312], [115049363, 115049495], [115061607, 115061661], [115069125, 115069158], [115085327, 115085500], [115088611, 115088711], [115099832, 115099991], [115102072, 115102210], [115109219, 115109372], [115110993, 115111140], [115374988, 115375133]] [[115047193, 115047312], [115049363, 115049495], [115061607, 115061661], [115069125, 115069158], [115085327, 115085500], [115088611, 115088711], [115099832, 115099991], [115102072, 115102210], [115109219, 115109372], [115110993, 115111140], [115374988, 115375112]]
ENST00000545380 [[115046060, 115047312], [115049363, 115049495], [115085327, 115085500], [115088611, 115088711], [115099832, 115099991], [115102072, 115102210], [115109219, 115109372], [115110993, 115111140], [115374988, 115375107]] [[115047193, 115047312], [115049363, 115049495], [115085327, 115085500], [115088611, 115088711], [115099832, 115099991], [115102072, 115102210], [115109219, 115109372], [115110993, 115111140], [115374988, 115375107]]
ENST00000331581 [[115047014, 115047312], [115049363, 115049495], [115061607, 115061661], [115069125, 115069158], [115080293, 115080377], [115085327, 115085500], [115088611, 115088711], [115099832, 115099991], [115102072, 115102210], [115109219, 115109372], [115110993, 115111140], [115374988, 115375283]] [[115047193, 115047312], [115049363, 115049495], [115061607, 115061661], [115069125, 115069158], [115080293, 115080377], [115085327, 115085500], [115088611, 115088711], [115099832, 115099991], [115102072, 115102210], [115109219, 115109372], [115110993, 115111140], [115374988, 115375112]]
ENST00000541434 [[115085209, 115085500], [115088611, 115088711], [115099832, 115099991], [115102072, 115102210], [115109219, 115109372], [115110993, 115111140], [115374988, 115375112]] None
ENST00000543249 [[115099939, 115099991], [115102072, 115102210], [115109219, 115109372], [115110993, 115111140], [115375600, 115375675]] [[115099939, 115099991], [115102072, 115102210], [115109219, 115109372], [115110993, 115111140], [115375600, 115375675]]
ENST00000540951 [[115102159, 115102210], [115109219, 115109372], [115110993, 115111140], [115316479, 115316555], [115374988, 115375133]] [[115111136, 115111140], [115316479, 115316555], [115374988, 115375112]]
ENST00000536781 [[115269801, 115270231], [115374988, 115375133]] None
ENST00000441886 [[115061328, 115061661], [115069125, 115069158], [115078021, 115078027], [115080293, 115080377], [115085327, 115085414]] None
ENST00000545960 [[115039937, 115040346], [115049363, 115049495], [115061607, 115061661], [115069125, 115069160]] None
ENST00000546000 [[115047046, 115047312], [115049363, 115049831]] None
ENST00000543375 [[115047049, 115047312], [115049363, 115049495], [115064557, 115064830]] None
ENST00000540852 [[115047127, 115047312], [115049363, 115049495], [115061607, 115061766]] None
ENST00000540373 [[115085418, 115085500], [115088611, 115088864]] None
ENST00000542450 [[115088659, 115088711], [115099832, 115099991], [115102072, 115102210], [115109219, 115109372], [115110993, 115111140], [115111516, 115111700]] [[115088659, 115088711], [115099832, 115099991], [115102072, 115102193]]
ENST00000543540 [[115099875, 115099991], [115102072, 115102210], [115109219, 115109372], [115110993, 115111140], [115158122, 115158197]] [[115099875, 115099991], [115102072, 115102193]]
ENST00000545094 [[115099908, 115099991], [115102072, 115102210], [115109219, 115109372], [115110993, 115111140], [115127551, 115127611]] [[115099908, 115099991], [115102072, 115102210], [115109219, 115109372], [115110993, 115111140], [115127551, 115127576]]
NM_001301043 [[115044344, 115047312], [115049363, 115049495], [115061607, 115061661], [115069125, 115069158], [115080293, 115080377], [115085327, 115085500], [115088611, 115088711], [115099832, 115099991], [115102072, 115102210], [115109219, 115109372], [115110993, 115111140], [115374988, 115375241]] [[115047193, 115047312], [115049363, 115049495], [115061607, 115061661], [115069125, 115069158], [115080293, 115080377], [115085327, 115085500], [115088611, 115088711], [115099832, 115099991], [115102072, 115102210], [115109219, 115109372], [115110993, 115111140], [115374988, 115375112]]
NM_001301044 [[115044344, 115047312], [115049363, 115049495], [115069125, 115069158], [115080293, 115080377], [115085327, 115085500], [115088611, 115088711], [115099832, 115099991], [115102072, 115102210], [115109219, 115109372], [115110993, 115111140], [115374988, 115375241]] [[115047193, 115047312], [115049363, 115049495], [115069125, 115069158], [115080293, 115080377], [115085327, 115085500], [115088611, 115088711], [115099832, 115099991], [115102072, 115102210], [115109219, 115109372], [115110993, 115111140], [115374988, 115375112]]
NM_014333 [[115044344, 115047312], [115049363, 115049495], [115080293, 115080377], [115085327, 115085500], [115088611, 115088711], [115099832, 115099991], [115102072, 115102210], [115109219, 115109372], [115110993, 115111140], [115374988, 115375241]] [[115047193, 115047312], [115049363, 115049495], [115080293, 115080377], [115085327, 115085500], [115088611, 115088711], [115099832, 115099991], [115102072, 115102210], [115109219, 115109372], [115110993, 115111140], [115374988, 115375112]]
NM_001301045 [[115044344, 115047312], [115049363, 115049495], [115061607, 115061661], [115069125, 115069158], [115085327, 115085500], [115088611, 115088711], [115099832, 115099991], [115102072, 115102210], [115109219, 115109372], [115110993, 115111140], [115374988, 115375241]] [[115047193, 115047312], [115049363, 115049495], [115061607, 115061661], [115069125, 115069158], [115085327, 115085500], [115088611, 115088711], [115099832, 115099991], [115102072, 115102210], [115109219, 115109372], [115110993, 115111140], [115374988, 115375112]]
NM_001098517 [[115044344, 115047312], [115049363, 115049495], [115085327, 115085500], [115088611, 115088711], [115099832, 115099991], [115102072, 115102210], [115109219, 115109372], [115110993, 115111140], [115374988, 115375241]] [[115047193, 115047312], [115049363, 115049495], [115085327, 115085500], [115088611, 115088711], [115099832, 115099991], [115102072, 115102210], [115109219, 115109372], [115110993, 115111140], [115374988, 115375112]]
Promoter
Chrom Start End Description
chr11 115046088 115046095 CAGE_peak_2_at_CADM1_5end
chr11 115064585 115064607 CAGE_peak_13_at_CADM1_5end
chr11 115064814 115064839 CAGE_peak_4_at_CADM1_5end
chr11 115064845 115064863 CAGE_peak_6_at_CADM1_5end
chr11 115127626 115127645 CAGE_peak_5_at_CADM1_5end
chr11 115158193 115158232 CAGE_peak_15_at_CADM1_5end
chr11 115375126 115375140 CAGE_peak_1_at_CADM1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I115488 115488135 115489913 0.78 [{'connected_gene': 'NXPE4', 'score': 4.79}, {'connected_gene': 'CADM1', 'score': 0.37}, {'connected_gene': 'GC11P115411', 'score': 0.18}]
chr11 GH11I115500 115500705 115505572 2.2 [{'connected_gene': 'CADM1', 'score': 553.46}, {'connected_gene': 'NXPE4', 'score': 4.48}, {'connected_gene': 'GC11P115411', 'score': 0.16}]
chr11 GH11I115548 115548713 115549400 1 [{'connected_gene': 'CADM1', 'score': 11.11}, {'connected_gene': 'FTLP7', 'score': 0.44}, {'connected_gene': 'RPL12P46', 'score': 0.31}]
chr11 GH11I115527 115527474 115528721 0.38 [{'connected_gene': 'CADM1', 'score': 11.76}, {'connected_gene': 'ENSG00000256281', 'score': 0.77}, {'connected_gene': 'LOC105369511', 'score': 0.44}]
chr11 GH11I115194 115194066 115194783 0.46 [{'connected_gene': 'CADM1', 'score': 11.75}, {'connected_gene': 'RBM7', 'score': 4.33}, {'connected_gene': 'GC11P115179', 'score': 0.39}, {'connected_gene': 'PIR31191', 'score': 0.28}]
chr11 GH11I115139 115139909 115140220 0.25 [{'connected_gene': 'CADM1', 'score': 12.58}, {'connected_gene': 'PIR51300', 'score': 0.77}, {'connected_gene': 'GC11M115143', 'score': 0.77}, {'connected_gene': 'ENSG00000252870', 'score': 0.39}]
chr11 GH11I115954 115954690 115954915 0.22 [{'connected_gene': 'CADM1', 'score': 1.97}, {'connected_gene': 'ENSG00000239600', 'score': 0.77}, {'connected_gene': 'GC11P116053', 'score': 0.15}]
chr11 GH11I115164 115164361 115165411 0.46 [{'connected_gene': 'CADM1', 'score': 12.72}, {'connected_gene': 'GC11P115179', 'score': 0.39}, {'connected_gene': 'GC11P115149', 'score': 0.37}]
chr11 GH11I115218 115218974 115220191 0.4 [{'connected_gene': 'CADM1', 'score': 20.68}, {'connected_gene': 'PIR31191', 'score': 0.39}, {'connected_gene': 'GC11P115179', 'score': 0.28}]
chr11 GH11I115206 115206889 115208347 0.75 [{'connected_gene': 'CADM1', 'score': 41.59}, {'connected_gene': 'PIR31191', 'score': 0.34}, {'connected_gene': 'GC11P115179', 'score': 0.31}]
chr11 GH11I115226 115226297 115228228 0.72 [{'connected_gene': 'CADM1', 'score': 19.97}, {'connected_gene': 'PIR31191', 'score': 0.77}, {'connected_gene': 'GC11P115179', 'score': 0.25}]
chr11 GH11I115621 115621973 115623789 0.92 [{'connected_gene': 'CADM1', 'score': 12.19}, {'connected_gene': 'ENSG00000239153', 'score': 0.77}, {'connected_gene': 'ENSG00000255689', 'score': 0.26}]
chr11 GH11I115166 115166933 115169825 0.62 [{'connected_gene': 'CADM1', 'score': 19.06}, {'connected_gene': 'GC11P115179', 'score': 0.39}, {'connected_gene': 'GC11P115149', 'score': 0.34}]
chr11 GH11I115220 115220434 115223794 1.41 [{'connected_gene': 'CADM1', 'score': 20.69}, {'connected_gene': 'PIR31191', 'score': 0.44}, {'connected_gene': 'GC11P115179', 'score': 0.26}]
chr11 GH11I115463 115463907 115464333 0.38 [{'connected_gene': 'CADM1', 'score': 0.26}, {'connected_gene': 'GC11P115411', 'score': 0.23}]
chr11 GH11I115489 115489955 115490338 0.24 [{'connected_gene': 'CADM1', 'score': 4.75}, {'connected_gene': 'GC11P115411', 'score': 0.18}]
chr11 GH11I115471 115471522 115471651 0.71 [{'connected_gene': 'CADM1', 'score': 11.21}, {'connected_gene': 'GC11P115411', 'score': 0.21}]
chr11 GH11I115480 115480287 115481634 0.31 [{'connected_gene': 'CADM1', 'score': 12.02}, {'connected_gene': 'GC11P115411', 'score': 0.2}]
chr11 GH11I115459 115459458 115460126 0.31 [{'connected_gene': 'CADM1', 'score': 0.25}, {'connected_gene': 'GC11P115411', 'score': 0.25}]
chr11 GH11I115324 115324682 115324871 0.63 [{'connected_gene': 'LOC105369509', 'score': 0.44}, {'connected_gene': 'GC11P115292', 'score': 0.29}, {'connected_gene': 'CADM1', 'score': 0.09}]
chr11 GH11I115421 115421622 115422391 0.62 [{'connected_gene': 'LOC105369507', 'score': 11.71}, {'connected_gene': 'GC11P115411', 'score': 0.39}, {'connected_gene': 'CADM1', 'score': 0.18}]
chr11 GH11I115396 115396643 115396792 0.56 [{'connected_gene': 'LOC105369507', 'score': 550.77}, {'connected_gene': 'ENSG00000255580', 'score': 0.29}, {'connected_gene': 'CADM1', 'score': 0.14}]
chr11 GH11I115200 115200618 115202101 0.72 [{'connected_gene': 'RBM7', 'score': 4.76}, {'connected_gene': 'GC11P115179', 'score': 0.34}, {'connected_gene': 'PIR31191', 'score': 0.29}, {'connected_gene': 'CADM1', 'score': 0.06}]
chr11 GH11I115248 115247671 115247690 0.2 [{'connected_gene': 'GC11P115247', 'score': 550.77}, {'connected_gene': 'GC11P115277', 'score': 0.31}, {'connected_gene': 'CADM1', 'score': 0.07}]
chr11 GH11I115255 115255609 115258116 0.83 [{'connected_gene': 'GC11P115247', 'score': 0.44}, {'connected_gene': 'GC11P115277', 'score': 0.34}, {'connected_gene': 'CADM1', 'score': 0.07}]
chr11 GH11I115260 115260878 115261877 0.2 [{'connected_gene': 'GC11P115247', 'score': 0.39}, {'connected_gene': 'GC11P115277', 'score': 0.37}, {'connected_gene': 'CADM1', 'score': 0.07}]
chr11 GH11I115261 115261989 115266960 0.38 [{'connected_gene': 'GC11P115277', 'score': 0.39}, {'connected_gene': 'GC11P115247', 'score': 0.37}, {'connected_gene': 'CADM1', 'score': 0.07}]
chr11 GH11I115289 115289985 115292032 0.49 [{'connected_gene': 'GC11P115292', 'score': 550.77}, {'connected_gene': 'GC11P115277', 'score': 0.39}, {'connected_gene': 'CADM1', 'score': 0.08}]
chr11 GH11I115247 115247541 115247630 0.2 [{'connected_gene': 'GC11P115247', 'score': 550.77}, {'connected_gene': 'GC11P115277', 'score': 0.31}, {'connected_gene': 'CADM1', 'score': 0.07}]
chr11 GH11I115217 115217981 115218130 0.63 [{'connected_gene': 'PIR31191', 'score': 0.39}, {'connected_gene': 'GC11P115179', 'score': 0.28}, {'connected_gene': 'CADM1', 'score': 0.06}]
chr11 GH11I115267 115267712 115269093 0.31 [{'connected_gene': 'GC11P115277', 'score': 0.44}, {'connected_gene': 'GC11P115247', 'score': 0.34}, {'connected_gene': 'CADM1', 'score': 0.07}]
chr11 GH11I115279 115279762 115281458 0.68 [{'connected_gene': 'GC11P115277', 'score': 0.77}, {'connected_gene': 'GC11P115292', 'score': 0.39}, {'connected_gene': 'CADM1', 'score': 0.07}]
chr11 GH11I115179 115179626 115179908 0.69 [{'connected_gene': 'GC11P115179', 'score': 550.77}, {'connected_gene': 'PIR31191', 'score': 0.23}, {'connected_gene': 'CADM1', 'score': 0.05}]
chr11 GH11I115198 115198381 115198631 0.86 [{'connected_gene': 'GC11P115179', 'score': 0.37}, {'connected_gene': 'PIR31191', 'score': 0.29}, {'connected_gene': 'CADM1', 'score': 0.06}]
chr11 GH11I115147 115147245 115147576 0.49 [{'connected_gene': 'GC11P115148', 'score': 550.77}, {'connected_gene': 'GC11M115146', 'score': 550.77}, {'connected_gene': 'GC11P115147', 'score': 550.77}, {'connected_gene': 'GC11P115149', 'score': 550.77}, {'connected_gene': 'CADM1', 'score': 8.89}]
chr11 GH11I115185 115185027 115186509 0.31 [{'connected_gene': 'GC11P115179', 'score': 0.44}, {'connected_gene': 'PIR31191', 'score': 0.25}, {'connected_gene': 'CADM1', 'score': 0.06}]
chr11 GH11I115180 115179930 115180150 0.66 [{'connected_gene': 'GC11P115179', 'score': 550.77}, {'connected_gene': 'PIR31191', 'score': 0.23}, {'connected_gene': 'CADM1', 'score': 0.05}]
chr11 GH11I115407 115407843 115410342 0.9 [{'connected_gene': 'GC11P115411', 'score': 550.77}, {'connected_gene': 'LOC105369509', 'score': 7.0}, {'connected_gene': 'LOC105369507', 'score': 0.39}, {'connected_gene': 'CADM1', 'score': 0.15}]
chr11 GH11I115377 115377963 115378052 0.83 [{'connected_gene': 'ENSG00000255580', 'score': 0.39}, {'connected_gene': 'LOC105369507', 'score': 0.37}, {'connected_gene': 'CADM1', 'score': 0.13}]
chr11 GH11I115376 115376939 115377163 0.51 [{'connected_gene': 'ENSG00000255580', 'score': 0.39}, {'connected_gene': 'LOC105369507', 'score': 0.37}, {'connected_gene': 'CADM1', 'score': 0.13}]

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