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
ENST00000231461 [[100142638, 100147833], [100191806, 100192100], [100222046, 100222304], [100231357, 100231489], [100238546, 100238970]] [[100147550, 100147833], [100191806, 100192100], [100222046, 100222304], [100231357, 100231489], [100238546, 100238659]]
ENST00000451528 [[100221014, 100222304], [100231357, 100231489], [100238546, 100238918]] [[100222042, 100222304], [100231357, 100231489], [100238546, 100238659]]
ENST00000507360 [[100222055, 100222304], [100226276, 100226586]] None
ENST00000523381 [[100231365, 100231489], [100236018, 100236167], [100238546, 100238928]] [[100236139, 100236167], [100238546, 100238659]]
NM_005668 [[100142638, 100147833], [100191806, 100192100], [100222046, 100222304], [100231357, 100231489], [100238546, 100238989]] [[100147550, 100147833], [100191806, 100192100], [100222046, 100222304], [100231357, 100231489], [100238546, 100238659]]
NM_175052 [[100221014, 100222304], [100231357, 100231489], [100238546, 100238989]] [[100222042, 100222304], [100231357, 100231489], [100238546, 100238659]]
Promoter
Chrom Start End Description
chr5 100238875 100238882 CAGE_peak_3_at_ST8SIA4_5end
chr5 100238920 100238949 CAGE_peak_2_at_ST8SIA4_5end
chr5 100238956 100238994 CAGE_peak_1_at_ST8SIA4_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I101423 101423932 101426181 0.43 [{'connected_gene': 'ST8SIA4', 'score': 3.93}, {'connected_gene': 'GTF3AP4', 'score': 0.1}, {'connected_gene': 'RN7SL802P', 'score': 0.1}]
chr5 GH05I100811 100811371 100816833 0.31 [{'connected_gene': 'ST8SIA4', 'score': 6.76}, {'connected_gene': 'MIR548P', 'score': 0.77}, {'connected_gene': 'RN7SKP62', 'score': 0.18}]
chr5 GH05I100777 100775830 100776095 0.28 [{'connected_gene': 'ST8SIA4', 'score': 18.27}, {'connected_gene': 'MIR548P', 'score': 11.82}, {'connected_gene': 'RN7SKP62', 'score': 0.26}]
chr5 GH05I100852 100852407 100855468 1.2 [{'connected_gene': 'ST8SIA4', 'score': 6.48}, {'connected_gene': 'GC05M100870', 'score': 0.37}, {'connected_gene': 'MIR548P', 'score': 0.28}]
chr5 GH05I100822 100822338 100823745 0.65 [{'connected_gene': 'ST8SIA4', 'score': 6.33}, {'connected_gene': 'MIR548P', 'score': 0.44}, {'connected_gene': 'GC05M100870', 'score': 0.25}]
chr5 GH05I100864 100864892 100866054 0.31 [{'connected_gene': 'ST8SIA4', 'score': 6.51}, {'connected_gene': 'GC05M100870', 'score': 0.44}, {'connected_gene': 'MIR548P', 'score': 0.25}]
chr5 GH05I100825 100825527 100829281 1.5 [{'connected_gene': 'ST8SIA4', 'score': 8.67}, {'connected_gene': 'MIR548P', 'score': 0.39}, {'connected_gene': 'GC05M100870', 'score': 0.26}]
chr5 GH05I100897 100897667 100905825 2.46 [{'connected_gene': 'ST8SIA4', 'score': 558.34}, {'connected_gene': 'GC05M100870', 'score': 0.31}]
chr5 GH05I100898 100897001 100897200 0.4 [{'connected_gene': 'ST8SIA4', 'score': 0.44}, {'connected_gene': 'GC05M100870', 'score': 0.31}]
chr5 GH05I100894 100894895 100896133 0.38 [{'connected_gene': 'ST8SIA4', 'score': 6.37}, {'connected_gene': 'GC05M100870', 'score': 0.34}]
chr5 GH05I100893 100893546 100894847 0.2 [{'connected_gene': 'ST8SIA4', 'score': 6.59}, {'connected_gene': 'GC05M100870', 'score': 0.34}]
chr5 GH05I100776 100776402 100778649 1.35 [{'connected_gene': 'MIR548P', 'score': 11.52}, {'connected_gene': 'ST8SIA4', 'score': 7.69}, {'connected_gene': 'RN7SKP62', 'score': 0.26}]
chr5 GH05I100790 100790202 100790626 0.69 [{'connected_gene': 'MIR548P', 'score': 11.29}, {'connected_gene': 'ST8SIA4', 'score': 7.27}, {'connected_gene': 'RN7SKP62', 'score': 0.22}]
chr5 GH05I100779 100779402 100781138 1.22 [{'connected_gene': 'MIR548P', 'score': 11.33}, {'connected_gene': 'ST8SIA4', 'score': 6.35}, {'connected_gene': 'RN7SKP62', 'score': 0.25}]
chr5 GH05I100775 100775001 100775200 0.57 [{'connected_gene': 'MIR548P', 'score': 11.82}, {'connected_gene': 'ST8SIA4', 'score': 11.69}, {'connected_gene': 'RN7SKP62', 'score': 0.26}]
chr5 GH05I100840 100840072 100843046 1.48 [{'connected_gene': 'MIR548P', 'score': 12.19}, {'connected_gene': 'ST8SIA4', 'score': 8.56}, {'connected_gene': 'GC05M100870', 'score': 0.29}]
chr5 GH05I100888 100888243 100891861 1.43 [{'connected_gene': 'MIR548P', 'score': 11.08}, {'connected_gene': 'ST8SIA4', 'score': 4.85}, {'connected_gene': 'GC05M100870', 'score': 0.37}]
chr5 GH05I100877 100877376 100877536 0.67 [{'connected_gene': 'MIR548P', 'score': 11.16}, {'connected_gene': 'ST8SIA4', 'score': 3.85}, {'connected_gene': 'GC05M100870', 'score': 0.44}]
chr5 GH05I100837 100837695 100838610 0.74 [{'connected_gene': 'MIR548P', 'score': 12.19}, {'connected_gene': 'ST8SIA4', 'score': 6.44}, {'connected_gene': 'GC05M100870', 'score': 0.29}]
chr5 GH05I100886 100886028 100886958 0.38 [{'connected_gene': 'MIR548P', 'score': 11.1}, {'connected_gene': 'GC05M100870', 'score': 0.39}, {'connected_gene': 'ST8SIA4', 'score': 0.37}]
chr5 GH05I100884 100884032 100885262 0.31 [{'connected_gene': 'MIR548P', 'score': 11.1}, {'connected_gene': 'ST8SIA4', 'score': 6.25}, {'connected_gene': 'GC05M100870', 'score': 0.39}]
chr5 GH05I100845 100845925 100848208 0.78 [{'connected_gene': 'MIR548P', 'score': 10.94}, {'connected_gene': 'ST8SIA4', 'score': 6.45}, {'connected_gene': 'GC05M100870', 'score': 0.34}]
chr5 GH05I100872 100872517 100872626 0.4 [{'connected_gene': 'GC05M100870', 'score': 550.77}, {'connected_gene': 'ST8SIA4', 'score': 0.29}]

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