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
ENST00000424486 [[53796987, 53798496], [53799979, 53800217]] [[53798026, 53798431]]
ENST00000575734 [[53797278, 53798496], [53799979, 53800090], [53805161, 53805343], [53809031, 53809482]] [[53798026, 53798431]]
ENST00000571679 [[53798043, 53798496], [53798892, 53799159]] [[53798043, 53798431]]
ENST00000575685 [[53798823, 53799179], [53799979, 53800090], [53800286, 53800385]] None
ENST00000570586 [[53798861, 53799179], [53799973, 53800225]] None
ENST00000575806 [[53799916, 53800090], [53805161, 53805343], [53809031, 53809245]] None
NM_018286 [[53796987, 53798496], [53799979, 53800225]] [[53798026, 53798431]]
NM_001099640 [[53796987, 53798496], [53799979, 53800090], [53805161, 53805343], [53809031, 53809482]] [[53798026, 53798431]]
Promoter
Chrom Start End Description
chr17 53800009 53800012 CAGE_peak_11_at_TMEM100_5end
chr17 53800218 53800231 CAGE_peak_1_at_TMEM100_5end
chr17 53809214 53809228 CAGE_peak_5_at_TMEM100_5end
chr17 53809233 53809251 CAGE_peak_3_at_TMEM100_5end
chr17 53809295 53809312 CAGE_peak_4_at_TMEM100_5end
chr17 53809407 53809415 CAGE_peak_6_at_TMEM100_5end
chr17 53809436 53809455 CAGE_peak_2_at_TMEM100_5end
chr17 53809473 53809480 CAGE_peak_10_at_TMEM100_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I055815 55815553 55818450 0.96 [{'connected_gene': 'TMEM100', 'score': 10.47}, {'connected_gene': 'PCTP', 'score': 7.17}, {'connected_gene': 'GC17P055809', 'score': 0.44}, {'connected_gene': 'GC17P055843', 'score': 0.31}]
chr17 GH17I055763 55763801 55764574 0.82 [{'connected_gene': 'TMEM100', 'score': 11.65}, {'connected_gene': 'PCTP', 'score': 10.15}, {'connected_gene': 'GC17P055774', 'score': 0.39}]
chr17 GH17I055760 55760801 55761000 0.43 [{'connected_gene': 'TMEM100', 'score': 11.51}, {'connected_gene': 'PCTP', 'score': 0.44}, {'connected_gene': 'GC17P055774', 'score': 0.39}]
chr17 GH17I055768 55768302 55770509 0.87 [{'connected_gene': 'TMEM100', 'score': 12.13}, {'connected_gene': 'PCTP', 'score': 8.1}, {'connected_gene': 'GC17P055774', 'score': 0.77}]
chr17 GH17I055575 55575520 55578145 1.08 [{'connected_gene': 'TMEM100', 'score': 10.61}, {'connected_gene': 'LOC102724732', 'score': 0.39}, {'connected_gene': 'LOC100418888', 'score': 0.37}, {'connected_gene': 'ENSG00000236319', 'score': 0.37}]
chr17 GH17I055584 55584001 55584201 0.73 [{'connected_gene': 'TMEM100', 'score': 10.26}, {'connected_gene': 'LOC102724732', 'score': 0.44}, {'connected_gene': 'LOC100418888', 'score': 0.34}, {'connected_gene': 'ENSG00000236319', 'score': 0.34}]
chr17 GH17I055609 55609179 55610854 0.66 [{'connected_gene': 'TMEM100', 'score': 10.29}, {'connected_gene': 'LOC101927389', 'score': 0.77}, {'connected_gene': 'LOC102724732', 'score': 0.34}]
chr17 GH17I055668 55668020 55669179 0.38 [{'connected_gene': 'TMEM100', 'score': 11.07}, {'connected_gene': 'GC17M055683', 'score': 0.39}, {'connected_gene': 'LOC101927389', 'score': 0.22}]
chr17 GH17I055674 55674001 55674401 0.6 [{'connected_gene': 'TMEM100', 'score': 11.29}, {'connected_gene': 'GC17M055683', 'score': 0.44}, {'connected_gene': 'LOC101927389', 'score': 0.21}]
chr17 GH17I055672 55672201 55673201 0.66 [{'connected_gene': 'TMEM100', 'score': 11.29}, {'connected_gene': 'GC17M055683', 'score': 0.44}, {'connected_gene': 'LOC101927389', 'score': 0.22}]
chr17 GH17I055706 55706440 55707609 0.63 [{'connected_gene': 'TMEM100', 'score': 12.91}, {'connected_gene': 'PIR59591', 'score': 0.77}, {'connected_gene': 'GC17M055704', 'score': 0.77}]
chr17 GH17I055692 55692815 55693853 1.09 [{'connected_gene': 'TMEM100', 'score': 11.38}, {'connected_gene': 'GC17M055693', 'score': 0.44}, {'connected_gene': 'GC17M055683', 'score': 0.39}]
chr17 GH17I055690 55690240 55690349 0.63 [{'connected_gene': 'TMEM100', 'score': 11.36}, {'connected_gene': 'GC17M055693', 'score': 0.44}, {'connected_gene': 'GC17M055683', 'score': 0.44}]
chr17 GH17I055730 55730931 55732973 1.79 [{'connected_gene': 'TMEM100', 'score': 550.77}, {'connected_gene': 'GC17P055722', 'score': 0.44}, {'connected_gene': 'GC17M055731', 'score': 0.44}]
chr17 GH17I055733 55733080 55733229 0.8 [{'connected_gene': 'TMEM100', 'score': 550.77}, {'connected_gene': 'GC17M055731', 'score': 0.77}]
chr17 GH17I055725 55725381 55725757 1.57 [{'connected_gene': 'TMEM100', 'score': 550.44}, {'connected_gene': 'GC17P055722', 'score': 0.77}]
chr17 GH17I055514 55514120 55514289 0.83 [{'connected_gene': 'MMD', 'score': 11.6}, {'connected_gene': 'TMEM100', 'score': 10.47}, {'connected_gene': 'SMIM36', 'score': 0.77}, {'connected_gene': 'GARSP1', 'score': 0.28}, {'connected_gene': 'LOC105371833', 'score': 0.25}]
chr17 GH17I055701 55701354 55703280 0.46 [{'connected_gene': 'PIR59591', 'score': 550.77}, {'connected_gene': 'TMEM100', 'score': 12.08}, {'connected_gene': 'COX11', 'score': 4.79}, {'connected_gene': 'GC17M055693', 'score': 0.77}]
chr17 GH17I055726 55726295 55726937 1 [{'connected_gene': 'GC17P055722', 'score': 0.77}, {'connected_gene': 'TMEM100', 'score': 0.44}]
chr17 GH17I055708 55708846 55711922 0.54 [{'connected_gene': 'GC17M055704', 'score': 550.77}, {'connected_gene': 'TMEM100', 'score': 12.93}, {'connected_gene': 'PIR59591', 'score': 0.44}]
chr17 GH17I055722 55722318 55723498 2.04 [{'connected_gene': 'GC17P055722', 'score': 550.77}, {'connected_gene': 'TMEM100', 'score': 550.44}, {'connected_gene': 'GC17M055704', 'score': 0.39}]