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
ENST00000295206 [[119599746, 119600830], [119603881, 119605254]] [[119600513, 119600830], [119603881, 119604743]]
ENST00000546667 [[119600810, 119600830], [119601499, 119601928]] None
NM_001426 [[119599746, 119600830], [119603881, 119605759]] [[119600513, 119600830], [119603881, 119604743]]
Promoter
Chrom Start End Description
chr2 119604456 119604501 CAGE_peak_2_at_EN1_5end
chr2 119605056 119605071 CAGE_peak_10_at_EN1_5end
chr2 119605214 119605230 CAGE_peak_1_at_EN1_5end
chr2 119605233 119605245 CAGE_peak_8_at_EN1_5end
chr2 119605253 119605264 CAGE_peak_5_at_EN1_5end
chr2 119605374 119605377 CAGE_peak_7_at_EN1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I118912 118912973 118914725 0.76 [{'connected_gene': 'MARCO', 'score': 20.0}, {'connected_gene': 'EN1', 'score': 0.2}]
chr2 GH02I118910 118910061 118910080 0.22 [{'connected_gene': 'MARCO', 'score': 12.96}, {'connected_gene': 'EN1', 'score': 0.21}]
chr2 GH02I118911 118911602 118911861 0.23 [{'connected_gene': 'MARCO', 'score': 12.96}, {'connected_gene': 'EN1', 'score': 0.21}]
chr2 GH02I118903 118903662 118904068 0.42 [{'connected_gene': 'MARCO', 'score': 5.82}, {'connected_gene': 'EN1', 'score': 0.22}]
chr2 GH02I118940 118940001 118941200 0.86 [{'connected_gene': 'MARCO', 'score': 559.97}, {'connected_gene': 'DBI', 'score': 1.71}, {'connected_gene': 'EN1', 'score': 0.16}]
chr2 GH02I118881 118881645 118881734 0.8 [{'connected_gene': 'EN1', 'score': 0.29}, {'connected_gene': 'MARCO', 'score': 0.21}]
chr2 GH02I118855 118855765 118855894 0.84 [{'connected_gene': 'EN1', 'score': 0.44}, {'connected_gene': 'MARCO', 'score': 0.17}]
chr2 GH02I118846 118846800 118849567 1.78 [{'connected_gene': 'EN1', 'score': 550.77}, {'connected_gene': 'MARCO', 'score': 0.16}]
chr2 GH02I118882 118882545 118883400 0.95 [{'connected_gene': 'EN1', 'score': 0.29}, {'connected_gene': 'MARCO', 'score': 0.22}]
chr2 GH02I118842 118842082 118846474 0.79 [{'connected_gene': 'EN1', 'score': 0.77}, {'connected_gene': 'LINC01956', 'score': 0.44}]
chr2 GH02I118222 118222125 118222274 0.6 [{'connected_gene': 'EN1', 'score': 11.91}, {'connected_gene': 'LOC105373578', 'score': 0.77}, {'connected_gene': 'LOC100506797', 'score': 0.28}, {'connected_gene': 'GC02M118174', 'score': 0.05}]
chr2 GH02I118926 118926001 118926600 0.71 [{'connected_gene': 'DBI', 'score': 1.95}, {'connected_gene': 'MARCO', 'score': 0.37}, {'connected_gene': 'EN1', 'score': 0.18}]
chr2 GH02I118936 118936180 118937200 0.72 [{'connected_gene': 'DBI', 'score': 1.86}, {'connected_gene': 'MARCO', 'score': 0.44}, {'connected_gene': 'EN1', 'score': 0.17}]
chr2 GH02I118902 118902201 118903194 0.87 [{'connected_gene': 'DBI', 'score': 1.17}, {'connected_gene': 'MARCO', 'score': 0.28}, {'connected_gene': 'EN1', 'score': 0.23}]
chr2 GH02I118929 118929172 118929375 0.49 [{'connected_gene': 'DBI', 'score': 1.6}, {'connected_gene': 'MARCO', 'score': 0.39}, {'connected_gene': 'EN1', 'score': 0.18}]
chr2 GH02I118835 118835600 118835801 0.68 [{'connected_gene': 'LINC01956', 'score': 550.77}, {'connected_gene': 'EN1', 'score': 0.39}]
chr2 GH02I118925 118925598 118925808 0.47 [{'connected_gene': 'LOC105373580', 'score': 5.12}, {'connected_gene': 'DBI', 'score': 1.8}, {'connected_gene': 'MARCO', 'score': 0.37}, {'connected_gene': 'EN1', 'score': 0.18}]
chr2 GH02I118223 118223271 118226225 0.77 [{'connected_gene': 'LOC105373578', 'score': 550.77}, {'connected_gene': 'EN1', 'score': 11.91}, {'connected_gene': 'LOC105373579', 'score': 0.06}, {'connected_gene': 'GC02M118174', 'score': 0.04}]