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
ENST00000288167 [[53880606, 53880675], [53882690, 53882715], [53883681, 53883822], [53886025, 53886153], [53886897, 53887024], [53889320, 53889368], [53890870, 53891013], [53891642, 53891717], [53892745, 53892845], [53894156, 53894255], [53898772, 53899827]] [[53880615, 53880675], [53882690, 53882715], [53883681, 53883822], [53886025, 53886153], [53886897, 53887024], [53889320, 53889368], [53890870, 53891013], [53891642, 53891717], [53892745, 53892845], [53894156, 53894255], [53898772, 53899335]]
ENST00000475124 [[53880610, 53880675], [53882690, 53882715], [53883681, 53883822], [53886025, 53886153], [53886897, 53887024], [53889320, 53889368], [53890870, 53891013], [53891642, 53892845], [53894156, 53894255], [53898772, 53899615]] None
ENST00000494338 [[53880611, 53880675], [53882690, 53882715], [53883681, 53883822], [53886025, 53886153], [53886897, 53887024], [53890870, 53891013], [53891642, 53891717], [53892745, 53892845], [53894156, 53894255], [53898772, 53898918]] [[53880615, 53880675], [53882690, 53882715], [53883681, 53883822], [53886025, 53886153], [53886897, 53887024], [53890870, 53891013], [53891642, 53891717], [53892745, 53892845], [53894156, 53894255], [53898772, 53898918]]
NM_018725 [[53880576, 53880675], [53882690, 53882715], [53883681, 53883822], [53886025, 53886153], [53886897, 53887024], [53889320, 53889368], [53890870, 53891013], [53891642, 53891717], [53892745, 53892845], [53894156, 53894255], [53898772, 53899827]] [[53880615, 53880675], [53882690, 53882715], [53883681, 53883822], [53886025, 53886153], [53886897, 53887024], [53889320, 53889368], [53890870, 53891013], [53891642, 53891717], [53892745, 53892845], [53894156, 53894255], [53898772, 53899335]]
Promoter
Chrom Start End Description
chr3 53880588 53880603 CAGE_peak_1_at_IL17RB_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I053725 53725631 53725928 0.39 [{'connected_gene': 'IL17RB', 'score': 10.9}, {'connected_gene': 'ACTR8', 'score': 10.77}, {'connected_gene': 'PIR47826', 'score': 0.26}, {'connected_gene': 'GC03P053782', 'score': 0.22}, {'connected_gene': 'CACNA1D', 'score': 0.05}]
chr3 GH03I053765 53765823 53766882 0.52 [{'connected_gene': 'IL17RB', 'score': 8.92}, {'connected_gene': 'ACTR8', 'score': 4.48}, {'connected_gene': 'GC03P053782', 'score': 0.37}, {'connected_gene': 'PIR47826', 'score': 0.17}, {'connected_gene': 'CACNA1D', 'score': 0.05}]
chr3 GH03I053767 53767438 53768302 0.31 [{'connected_gene': 'IL17RB', 'score': 8.66}, {'connected_gene': 'ENSG00000271916', 'score': 5.0}, {'connected_gene': 'GC03P053782', 'score': 0.37}, {'connected_gene': 'PIR47826', 'score': 0.17}, {'connected_gene': 'CACNA1D', 'score': 0.05}]
chr3 GH03I053743 53743542 53745031 0.43 [{'connected_gene': 'IL17RB', 'score': 8.72}, {'connected_gene': 'GC03P053782', 'score': 0.28}, {'connected_gene': 'PIR47826', 'score': 0.21}, {'connected_gene': 'CACNA1D', 'score': 0.05}]
chr3 GH03I053772 53772613 53774410 1.15 [{'connected_gene': 'IL17RB', 'score': 7.92}, {'connected_gene': 'GC03P053782', 'score': 0.44}, {'connected_gene': 'PIR47826', 'score': 0.16}, {'connected_gene': 'CACNA1D', 'score': 0.04}]
chr3 GH03I053768 53768835 53769881 0.52 [{'connected_gene': 'IL17RB', 'score': 5.46}, {'connected_gene': 'GC03P053782', 'score': 0.39}, {'connected_gene': 'PIR47826', 'score': 0.17}, {'connected_gene': 'CACNA1D', 'score': 0.04}]
chr3 GH03I053747 53747975 53750825 1.15 [{'connected_gene': 'IL17RB', 'score': 9.12}, {'connected_gene': 'SELENOK', 'score': 2.88}, {'connected_gene': 'DCP1A', 'score': 2.03}, {'connected_gene': 'GC03P053782', 'score': 0.29}, {'connected_gene': 'PIR47826', 'score': 0.2}, {'connected_gene': 'CACNA1D', 'score': 0.05}]
chr3 GH03I054322 54322073 54323063 0.74 [{'connected_gene': 'IL17RB', 'score': 5.83}, {'connected_gene': 'PIR51414', 'score': 0.1}, {'connected_gene': 'CACNA2D3', 'score': 0.08}]
chr3 GH03I053776 53776932 53777918 0.38 [{'connected_gene': 'IL17RB', 'score': 17.78}, {'connected_gene': 'CHDH', 'score': 10.6}, {'connected_gene': 'GC03P053782', 'score': 0.44}, {'connected_gene': 'PIR47826', 'score': 0.15}, {'connected_gene': 'CACNA1D', 'score': 0.05}]
chr3 GH03I053837 53837939 53838997 0.2 [{'connected_gene': 'IL17RB', 'score': 24.38}, {'connected_gene': 'CHDH', 'score': 0.44}, {'connected_gene': 'ENSG00000271916', 'score': 0.26}]
chr3 GH03I053820 53820900 53822443 0.51 [{'connected_gene': 'IL17RB', 'score': 26.69}, {'connected_gene': 'CHDH', 'score': 11.98}, {'connected_gene': 'ENSG00000271916', 'score': 0.34}]
chr3 GH03I053841 53841135 53847118 2.65 [{'connected_gene': 'IL17RB', 'score': 580.34}, {'connected_gene': 'CHDH', 'score': 557.04}, {'connected_gene': 'ENSG00000271916', 'score': 0.25}]
chr3 GH03I053795 53795314 53795403 0.2 [{'connected_gene': 'CHDH', 'score': 11.32}, {'connected_gene': 'IL17RB', 'score': 11.32}, {'connected_gene': 'ENSG00000271916', 'score': 6.49}, {'connected_gene': 'GC03P053782', 'score': 0.39}, {'connected_gene': 'CACNA1D', 'score': 0.04}]
chr3 GH03I053794 53794666 53795280 0.43 [{'connected_gene': 'CHDH', 'score': 11.32}, {'connected_gene': 'IL17RB', 'score': 11.32}, {'connected_gene': 'ENSG00000271916', 'score': 0.77}, {'connected_gene': 'GC03P053782', 'score': 0.39}, {'connected_gene': 'CACNA1D', 'score': 0.04}]
chr3 GH03I053775 53775682 53776865 0.52 [{'connected_gene': 'CHDH', 'score': 10.61}, {'connected_gene': 'IL17RB', 'score': 10.61}, {'connected_gene': 'GC03P053782', 'score': 0.44}, {'connected_gene': 'PIR47826', 'score': 0.15}, {'connected_gene': 'CACNA1D', 'score': 0.05}]
chr3 GH03I053824 53824501 53825447 0.2 [{'connected_gene': 'CHDH', 'score': 11.98}, {'connected_gene': 'IL17RB', 'score': 11.98}, {'connected_gene': 'ENSG00000271916', 'score': 8.0}]
chr3 GH03I053783 53783792 53784812 0.2 [{'connected_gene': 'GC03P053782', 'score': 550.77}, {'connected_gene': 'IL17RB', 'score': 4.7}, {'connected_gene': 'ENSG00000271916', 'score': 0.39}, {'connected_gene': 'CACNA1D', 'score': 0.05}]