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
ENST00000315251 [[53846361, 53852222], [53852964, 53853067], [53853558, 53853701], [53854500, 53854635], [53855673, 53855803], [53856517, 53856669], [53857332, 53858094], [53874955, 53875026], [53880109, 53880417]] [[53851803, 53852222], [53852964, 53853067], [53853558, 53853701], [53854500, 53854635], [53855673, 53855803], [53856517, 53856669], [53857332, 53858035]]
ENST00000481668 [[53857570, 53858094], [53874955, 53875026], [53878608, 53878644]] [[53857570, 53858035]]
ENST00000467802 [[53857657, 53858094], [53874955, 53875026], [53878739, 53878796]] [[53857657, 53858035]]
NM_018397 [[53850323, 53852222], [53852964, 53853067], [53853558, 53853701], [53854500, 53854635], [53855673, 53855803], [53856517, 53856669], [53857332, 53858094], [53874955, 53875026], [53880109, 53880420]] [[53851803, 53852222], [53852964, 53853067], [53853558, 53853701], [53854500, 53854635], [53855673, 53855803], [53856517, 53856669], [53857332, 53858035]]
Promoter
Chrom Start End Description
chr3 53878786 53878811 CAGE_peak_4_at_CHDH_5end
chr3 53878829 53878837 CAGE_peak_8_at_CHDH_5end
chr3 53880345 53880378 CAGE_peak_2_at_CHDH_5end
chr3 53880401 53880474 CAGE_peak_1_at_CHDH_5end
chr3 53880477 53880491 CAGE_peak_3_at_CHDH_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I053833 53833092 53834037 0.31 [{'connected_gene': 'ACTR8', 'score': 10.51}, {'connected_gene': 'CHDH', 'score': 0.39}, {'connected_gene': 'ENSG00000271916', 'score': 0.28}]
chr3 GH03I053830 53830810 53831596 0.2 [{'connected_gene': 'ACTR8', 'score': 10.49}, {'connected_gene': 'CHDH', 'score': 0.37}, {'connected_gene': 'ENSG00000271916', 'score': 0.29}]
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 GH03I053825 53825930 53826175 0.24 [{'connected_gene': 'CHDH', 'score': 3.97}, {'connected_gene': 'CACNA1D', 'score': 2.72}, {'connected_gene': 'ENSG00000271916', 'score': 0.31}]
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 GH03I053835 53835669 53836593 0.38 [{'connected_gene': 'CHDH', 'score': 0.39}, {'connected_gene': 'ENSG00000271916', 'score': 0.28}]
chr3 GH03I053804 53804145 53808023 1.08 [{'connected_gene': 'ENSG00000271916', 'score': 10.92}, {'connected_gene': 'CHDH', 'score': 5.12}, {'connected_gene': 'CACNA1D', 'score': 0.04}]
chr3 GH03I053809 53809846 53810689 0.31 [{'connected_gene': 'ENSG00000271916', 'score': 0.39}, {'connected_gene': 'CHDH', 'score': 0.28}, {'connected_gene': 'CACNA1D', 'score': 0.04}]