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
ENST00000395715 [[116420723, 116427312], [116430557, 116430680], [116599227, 116599831], [116616099, 116617229], [116631358, 116632287], [116635827, 116635985], [116680771, 116681228]] [[116426250, 116427312], [116430557, 116430680], [116599227, 116599831], [116616099, 116617229], [116631358, 116632287], [116635827, 116635864]]
ENST00000220888 [[116424776, 116427312], [116430557, 116430680], [116599227, 116599831], [116616099, 116617229], [116631358, 116632287], [116680771, 116680929]] [[116426250, 116427312], [116430557, 116430680], [116599227, 116599831], [116616099, 116617229], [116631358, 116632285]]
ENST00000519076 [[116426041, 116427312], [116430557, 116430680], [116599227, 116599831], [116616099, 116616277], [116616877, 116617229], [116631358, 116631936], [116632074, 116632297]] [[116426250, 116427312], [116430557, 116430680], [116599227, 116599831], [116616099, 116616277], [116616877, 116617229], [116631358, 116631936], [116632074, 116632285]]
ENST00000520276 [[116426149, 116427312], [116430557, 116430680], [116599227, 116599831], [116616099, 116617229], [116631358, 116632287], [116680100, 116680234]] [[116426250, 116427312], [116430557, 116430680], [116599227, 116599831], [116616099, 116617229], [116631358, 116632287], [116680100, 116680110]]
ENST00000519674 [[116527416, 116527510], [116599227, 116599831], [116616099, 116617229], [116631358, 116632287], [116680771, 116681130]] [[116527462, 116527510], [116599227, 116599831], [116616099, 116617229], [116631358, 116632285]]
ENST00000517323 [[116599227, 116599831], [116616099, 116616277], [116616877, 116617229], [116631358, 116632287], [116680100, 116680208]] [[116599227, 116599831], [116616099, 116616277], [116616877, 116617229], [116631358, 116632287], [116680100, 116680110]]
ENST00000395713 [[116631973, 116632287], [116635827, 116635985], [116673796, 116673905]] [[116631973, 116632287], [116635827, 116635864]]
ENST00000519815 [[116632000, 116632287], [116635827, 116635985], [116681571, 116681710]] [[116632000, 116632287], [116635827, 116635864]]
ENST00000422939 [[116632139, 116632287], [116635827, 116635985], [116649460, 116649557], [116713162, 116713299], [116821858, 116821899]] [[116632139, 116632287], [116635827, 116635864]]
ENST00000451156 [[116635837, 116635985], [116680100, 116680521]] [[116635837, 116635864]]
ENST00000518018 [[116426656, 116427312], [116430557, 116430680], [116504414, 116504448]] [[116426656, 116427312], [116430557, 116430680], [116504414, 116504448]]
NM_001282902 [[116420723, 116427312], [116430557, 116430680], [116599227, 116599831], [116616099, 116617229], [116631358, 116632287], [116680100, 116680239]] [[116426250, 116427312], [116430557, 116430680], [116599227, 116599831], [116616099, 116617229], [116631358, 116632287], [116680100, 116680110]]
NM_014112 [[116420723, 116427312], [116430557, 116430680], [116599227, 116599831], [116616099, 116617229], [116631358, 116632287], [116635827, 116635985], [116680771, 116681255]] [[116426250, 116427312], [116430557, 116430680], [116599227, 116599831], [116616099, 116617229], [116631358, 116632287], [116635827, 116635864]]
NM_001282903 [[116420723, 116427312], [116430557, 116430680], [116599227, 116599831], [116616099, 116617229], [116631358, 116632287], [116635841, 116635985], [116680771, 116681255]] [[116426250, 116427312], [116430557, 116430680], [116599227, 116599831], [116616099, 116617229], [116631358, 116632287], [116635841, 116635857]]
NM_001330599 [[116420723, 116427312], [116430557, 116430680], [116599227, 116599831], [116616099, 116617229], [116631358, 116632287], [116680771, 116681255]] [[116426250, 116427312], [116430557, 116430680], [116599227, 116599831], [116616099, 116617229], [116631358, 116632285]]
Promoter
Chrom Start End Description
chr8 116504458 116504481 CAGE_peak_24_at_TRPS1_5end
chr8 116673894 116673913 CAGE_peak_12_at_TRPS1_5end
chr8 116680215 116680245 CAGE_peak_6_at_TRPS1_5end
chr8 116680833 116680881 CAGE_peak_7_at_TRPS1_5end
chr8 116681022 116681042 CAGE_peak_10_at_TRPS1_5end
chr8 116681108 116681120 CAGE_peak_9_at_TRPS1_5end
chr8 116681123 116681143 CAGE_peak_4_at_TRPS1_5end
chr8 116681150 116681164 CAGE_peak_5_at_TRPS1_5end
chr8 116681194 116681214 CAGE_peak_1_at_TRPS1_5end
chr8 116681221 116681236 CAGE_peak_3_at_TRPS1_5end
chr8 116681247 116681261 CAGE_peak_8_at_TRPS1_5end
chr8 116681275 116681290 CAGE_peak_11_at_TRPS1_5end
chr8 116681409 116681431 CAGE_peak_2_at_TRPS1_5end
chr8 116681686 116681699 CAGE_peak_23_at_TRPS1_5end
chr8 116681845 116681859 CAGE_peak_18_at_TRPS1_5end
chr8 116681878 116681893 CAGE_peak_15_at_TRPS1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I115987 115987079 115988466 0.71 [{'connected_gene': 'EIF3H', 'score': 11.67}, {'connected_gene': 'UTP23', 'score': 11.53}, {'connected_gene': 'RNA5SP276', 'score': 0.28}, {'connected_gene': 'TRPS1', 'score': 0.1}, {'connected_gene': 'LINC00536', 'score': 0.05}]
chr8 GH08I115867 115867553 115867905 0.85 [{'connected_gene': 'UTP23', 'score': 10.85}, {'connected_gene': 'TRPS1', 'score': 9.02}, {'connected_gene': 'RNA5SP276', 'score': 0.1}]
chr8 GH08I115977 115977921 115979179 1.11 [{'connected_gene': 'TRPS1', 'score': 9.26}, {'connected_gene': 'RNA5SP276', 'score': 0.26}, {'connected_gene': 'LINC00536', 'score': 0.05}]
chr8 GH08I115870 115870401 115870600 0.2 [{'connected_gene': 'TRPS1', 'score': 0.21}, {'connected_gene': 'RNA5SP276', 'score': 0.1}]
chr8 GH08I115878 115878935 115879084 0.43 [{'connected_gene': 'TRPS1', 'score': 0.2}, {'connected_gene': 'RNA5SP276', 'score': 0.11}]
chr8 GH08I115845 115845936 115847200 1.16 [{'connected_gene': 'TRPS1', 'score': 12.24}, {'connected_gene': 'RNA5SP276', 'score': 0.1}]
chr8 GH08I115838 115838119 115839074 0.7 [{'connected_gene': 'TRPS1', 'score': 0.31}, {'connected_gene': 'RNA5SP276', 'score': 0.09}]
chr8 GH08I115877 115877001 115878867 0.4 [{'connected_gene': 'TRPS1', 'score': 0.2}, {'connected_gene': 'RNA5SP276', 'score': 0.11}]
chr8 GH08I116058 116058001 116058601 1.11 [{'connected_gene': 'TRPS1', 'score': 12.95}, {'connected_gene': 'GC08P116031', 'score': 0.31}, {'connected_gene': 'GC08P116092', 'score': 0.29}, {'connected_gene': 'GC08M116001', 'score': 0.1}, {'connected_gene': 'LINC00536', 'score': 0.06}]
chr8 GH08I116036 116036365 116038942 1 [{'connected_gene': 'TRPS1', 'score': 2.7}, {'connected_gene': 'GC08P116031', 'score': 0.44}, {'connected_gene': 'GC08P116092', 'score': 0.22}, {'connected_gene': 'GC08M116001', 'score': 0.09}, {'connected_gene': 'LINC00536', 'score': 0.06}]
chr8 GH08I116056 116056967 116057600 0.91 [{'connected_gene': 'TRPS1', 'score': 13.35}, {'connected_gene': 'GC08P116031', 'score': 0.31}, {'connected_gene': 'GC08P116092', 'score': 0.28}, {'connected_gene': 'GC08M116001', 'score': 0.1}, {'connected_gene': 'LINC00536', 'score': 0.06}]
chr8 GH08I115426 115426907 115431394 1.69 [{'connected_gene': 'TRPS1', 'score': 5.9}, {'connected_gene': 'GC08M115411', 'score': 0.37}, {'connected_gene': 'GC08P115500', 'score': 0.19}]
chr8 GH08I115493 115493925 115496055 1.08 [{'connected_gene': 'TRPS1', 'score': 1.63}, {'connected_gene': 'GC08P115500', 'score': 0.44}, {'connected_gene': 'GC08M115411', 'score': 0.18}]
chr8 GH08I115217 115217899 115219732 1.2 [{'connected_gene': 'TRPS1', 'score': 4.95}, {'connected_gene': 'GC08M115212', 'score': 0.37}, {'connected_gene': 'GC08P115098', 'score': 0.13}]
chr8 GH08I115647 115647801 115650611 1.59 [{'connected_gene': 'TRPS1', 'score': 1.93}, {'connected_gene': 'GC08M115568', 'score': 0.18}, {'connected_gene': 'GC08P115738', 'score': 0.17}]
chr8 GH08I115661 115661492 115669966 2.63 [{'connected_gene': 'TRPS1', 'score': 565.26}, {'connected_gene': 'GC08P115738', 'score': 0.19}, {'connected_gene': 'GC08M115568', 'score': 0.15}]
chr8 GH08I115774 115774735 115774924 0.74 [{'connected_gene': 'TRPS1', 'score': 0.29}, {'connected_gene': 'GC08P115738', 'score': 0.28}]
chr8 GH08I115969 115969656 115969785 0.52 [{'connected_gene': 'RNA5SP276', 'score': 0.23}, {'connected_gene': 'TRPS1', 'score': 0.1}, {'connected_gene': 'LINC00536', 'score': 0.05}]
chr8 GH08I115447 115447913 115453341 1.88 [{'connected_gene': 'ENSG00000227170', 'score': 10.19}, {'connected_gene': 'TRPS1', 'score': 3.35}, {'connected_gene': 'GC08M115411', 'score': 0.28}, {'connected_gene': 'GC08P115500', 'score': 0.25}]
chr8 GH08I115743 115743806 115744104 0.22 [{'connected_gene': 'GC08P115738', 'score': 0.44}, {'connected_gene': 'TRPS1', 'score': 0.2}]
chr8 GH08I115467 115467505 115468655 0.86 [{'connected_gene': 'ENSG00000227170', 'score': 11.61}, {'connected_gene': 'GC08P115500', 'score': 0.29}, {'connected_gene': 'GC08M115411', 'score': 0.22}, {'connected_gene': 'TRPS1', 'score': 0.05}]
chr8 GH08I115506 115506922 115507975 0.54 [{'connected_gene': 'ENSG00000227170', 'score': 0.77}, {'connected_gene': 'GC08P115500', 'score': 0.44}, {'connected_gene': 'TRPS1', 'score': 0.06}]
chr8 GH08I115421 115421634 115422166 0.51 [{'connected_gene': 'GC08M115411', 'score': 0.44}, {'connected_gene': 'GC08P115500', 'score': 0.18}, {'connected_gene': 'TRPS1', 'score': 0.05}]
chr8 GH08I115417 115417373 115420458 1.88 [{'connected_gene': 'GC08M115411', 'score': 0.44}, {'connected_gene': 'GC08P115500', 'score': 0.18}, {'connected_gene': 'TRPS1', 'score': 0.05}]
chr8 GH08I115568 115568801 115569200 0.43 [{'connected_gene': 'GC08M115568', 'score': 550.77}, {'connected_gene': 'ENSG00000227170', 'score': 0.22}, {'connected_gene': 'TRPS1', 'score': 0.07}]
chr8 GH08I115435 115435613 115436596 0.63 [{'connected_gene': 'GC08M115411', 'score': 0.34}, {'connected_gene': 'GC08P115500', 'score': 0.21}, {'connected_gene': 'TRPS1', 'score': 0.05}]
chr8 GH08I115575 115575514 115578200 0.83 [{'connected_gene': 'GC08M115568', 'score': 0.44}, {'connected_gene': 'GC08P115738', 'score': 0.1}, {'connected_gene': 'TRPS1', 'score': 0.07}]
chr8 GH08I115457 115457664 115458599 0.89 [{'connected_gene': 'ENSG00000227170', 'score': 11.08}, {'connected_gene': 'GC08P115500', 'score': 0.26}, {'connected_gene': 'GC08M115411', 'score': 0.25}, {'connected_gene': 'TRPS1', 'score': 0.05}]
chr8 GH08I115585 115585001 115585600 0.56 [{'connected_gene': 'GC08M115568', 'score': 0.37}, {'connected_gene': 'GC08P115738', 'score': 0.1}, {'connected_gene': 'TRPS1', 'score': 0.07}]
chr8 GH08I115660 115660794 115660943 0.86 [{'connected_gene': 'GC08P115738', 'score': 0.18}, {'connected_gene': 'GC08M115568', 'score': 0.16}, {'connected_gene': 'TRPS1', 'score': 0.11}]
chr8 GH08I115562 115562629 115564949 0.49 [{'connected_gene': 'GC08M115568', 'score': 0.44}, {'connected_gene': 'ENSG00000227170', 'score': 0.23}, {'connected_gene': 'TRPS1', 'score': 0.07}]
chr8 GH08I115422 115422645 115425048 0.31 [{'connected_gene': 'GC08M115411', 'score': 0.39}, {'connected_gene': 'GC08P115500', 'score': 0.18}, {'connected_gene': 'TRPS1', 'score': 0.05}]
chr8 GH08I115656 115656826 115658792 0.82 [{'connected_gene': 'GC08P115738', 'score': 0.18}, {'connected_gene': 'GC08M115568', 'score': 0.17}, {'connected_gene': 'TRPS1', 'score': 0.1}]
chr8 GH08I115621 115621214 115621323 0.2 [{'connected_gene': 'GC08M115568', 'score': 0.23}, {'connected_gene': 'GC08P115738', 'score': 0.13}, {'connected_gene': 'TRPS1', 'score': 0.09}]
chr8 GH08I115581 115581801 115582800 0.2 [{'connected_gene': 'GC08M115568', 'score': 0.39}, {'connected_gene': 'GC08P115738', 'score': 0.1}, {'connected_gene': 'TRPS1', 'score': 0.07}]
chr8 GH08I115583 115583601 115584200 0.2 [{'connected_gene': 'GC08M115568', 'score': 0.39}, {'connected_gene': 'GC08P115738', 'score': 0.1}, {'connected_gene': 'TRPS1', 'score': 0.07}]
chr8 GH08I115412 115412340 115412674 0.4 [{'connected_gene': 'GC08M115411', 'score': 550.77}, {'connected_gene': 'GC08P115500', 'score': 0.17}, {'connected_gene': 'TRPS1', 'score': 0.05}]
chr8 GH08I115464 115464014 115465515 0.98 [{'connected_gene': 'ENSG00000227170', 'score': 11.41}, {'connected_gene': 'GC08P115500', 'score': 0.28}, {'connected_gene': 'GC08M115411', 'score': 0.23}, {'connected_gene': 'TRPS1', 'score': 0.05}]
chr8 GH08I115587 115587014 115587163 0.49 [{'connected_gene': 'GC08M115568', 'score': 0.37}, {'connected_gene': 'GC08P115738', 'score': 0.1}, {'connected_gene': 'TRPS1', 'score': 0.07}]
chr8 GH08I115446 115446401 115446600 0.51 [{'connected_gene': 'ENSG00000227170', 'score': 10.72}, {'connected_gene': 'GC08M115411', 'score': 0.29}, {'connected_gene': 'GC08P115500', 'score': 0.23}, {'connected_gene': 'TRPS1', 'score': 0.05}]
chr8 GH08I115682 115682554 115683420 0.95 [{'connected_gene': 'GC08P115738', 'score': 0.22}, {'connected_gene': 'GC08M115568', 'score': 0.14}, {'connected_gene': 'TRPS1', 'score': 0.13}]
chr8 GH08I115439 115439351 115440644 0.83 [{'connected_gene': 'GC08M115411', 'score': 0.31}, {'connected_gene': 'GC08P115500', 'score': 0.21}, {'connected_gene': 'TRPS1', 'score': 0.05}]
chr8 GH08I115466 115466574 115466723 0.43 [{'connected_gene': 'ENSG00000227170', 'score': 10.52}, {'connected_gene': 'GC08P115500', 'score': 0.29}, {'connected_gene': 'GC08M115411', 'score': 0.23}, {'connected_gene': 'TRPS1', 'score': 0.05}]
chr8 GH08I115448 115447001 115447200 0.51 [{'connected_gene': 'ENSG00000227170', 'score': 10.72}, {'connected_gene': 'GC08M115411', 'score': 0.29}, {'connected_gene': 'GC08P115500', 'score': 0.23}, {'connected_gene': 'TRPS1', 'score': 0.05}]

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