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
ENST00000334574 [[83424113, 83428352], [83430853, 83431030], [83433917, 83434050], [83434649, 83434783], [83437631, 83437782], [83438501, 83438636], [83440824, 83440980], [83447517, 83447639], [83448996, 83449019], [83451546, 83451777], [83455262, 83455358], [83455503, 83456220], [83474717, 83474821]] [[83428099, 83428352], [83430853, 83431030], [83433917, 83434050], [83434649, 83434783], [83437631, 83437782], [83438501, 83438636], [83440824, 83440980], [83447517, 83447639], [83448996, 83449019], [83451546, 83451777], [83455262, 83455358], [83455503, 83456142]]
ENST00000541889 [[83428025, 83428352], [83430853, 83431030], [83433917, 83434050], [83434649, 83434783], [83437631, 83437782], [83440824, 83440980], [83447517, 83447639], [83448996, 83449019], [83451546, 83451777], [83455262, 83455358], [83455503, 83456220], [83474717, 83474806]] [[83428099, 83428352], [83430853, 83431030], [83433917, 83434050], [83434649, 83434783], [83437631, 83437782], [83440824, 83440980], [83447517, 83447639], [83448996, 83449019], [83451546, 83451777], [83455262, 83455358], [83455503, 83456142]]
ENST00000561368 [[83455839, 83456220], [83465001, 83465118], [83474717, 83474822]] [[83455839, 83456142]]
NM_001281805 [[83424116, 83428352], [83430853, 83431030], [83433917, 83434050], [83434649, 83434783], [83437631, 83437782], [83440824, 83440980], [83447517, 83447639], [83448996, 83449019], [83451546, 83451777], [83455262, 83455358], [83455503, 83456220], [83465001, 83465118], [83474717, 83474822]] [[83428099, 83428352], [83430853, 83431030], [83433917, 83434050], [83434649, 83434783], [83437631, 83437782], [83440824, 83440980], [83447517, 83447639], [83448996, 83449019], [83451546, 83451777], [83455262, 83455358], [83455503, 83456142]]
NM_001007122 [[83424116, 83428352], [83430853, 83431030], [83433917, 83434050], [83434649, 83434783], [83437631, 83437782], [83438501, 83438636], [83440824, 83440980], [83447517, 83447639], [83448996, 83449019], [83451546, 83451777], [83455262, 83455358], [83455503, 83456220], [83474717, 83474822]] [[83428099, 83428352], [83430853, 83431030], [83433917, 83434050], [83434649, 83434783], [83437631, 83437782], [83438501, 83438636], [83440824, 83440980], [83447517, 83447639], [83448996, 83449019], [83451546, 83451777], [83455262, 83455358], [83455503, 83456142]]
NM_001281806 [[83424116, 83428352], [83430853, 83431030], [83433917, 83434050], [83434649, 83434783], [83437631, 83437782], [83440824, 83440980], [83447517, 83447639], [83448996, 83449019], [83451546, 83451777], [83455262, 83455358], [83455503, 83456220], [83474717, 83474822]] [[83428099, 83428352], [83430853, 83431030], [83433917, 83434050], [83434649, 83434783], [83437631, 83437782], [83440824, 83440980], [83447517, 83447639], [83448996, 83449019], [83451546, 83451777], [83455262, 83455358], [83455503, 83456142]]
Promoter
Chrom Start End Description
chr15 83474761 83474775 CAGE_peak_2_at_FSD2_5end
chr15 83474811 83474826 CAGE_peak_1_at_FSD2_5end
chr15 83474846 83474850 CAGE_peak_3_at_FSD2_5end
chr15 83474864 83474869 CAGE_peak_4_at_FSD2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I082950 82950863 82953437 1.81 [{'connected_gene': 'HOMER2', 'score': 550.29}, {'connected_gene': 'FAM103A1', 'score': 38.36}, {'connected_gene': 'AP3B2', 'score': 15.44}, {'connected_gene': 'C15orf40', 'score': 10.32}, {'connected_gene': 'FSD2', 'score': 9.79}, {'connected_gene': 'GC15M082960', 'score': 0.44}, {'connected_gene': 'PIR42152', 'score': 0.29}, {'connected_gene': 'LOC105370928', 'score': 0.22}]
chr15 GH15I082852 82852612 82853979 0.74 [{'connected_gene': 'FAM103A1', 'score': 26.82}, {'connected_gene': 'C15orf40', 'score': 11.15}, {'connected_gene': 'HOMER2', 'score': 11.14}, {'connected_gene': 'FSD2', 'score': 10.51}, {'connected_gene': 'WHAMM', 'score': 9.0}, {'connected_gene': 'GC15M082841', 'score': 0.44}, {'connected_gene': 'GC15P082870', 'score': 0.37}]
chr15 GH15I082848 82848958 82851175 1.21 [{'connected_gene': 'FAM103A1', 'score': 26.82}, {'connected_gene': 'C15orf40', 'score': 21.82}, {'connected_gene': 'WHAMM', 'score': 11.97}, {'connected_gene': 'HOMER2', 'score': 11.14}, {'connected_gene': 'FSD2', 'score': 10.63}, {'connected_gene': 'EFL1', 'score': 9.85}, {'connected_gene': 'GOLGA6L9', 'score': 6.27}, {'connected_gene': 'GC15M082841', 'score': 0.77}, {'connected_gene': 'GC15P082870', 'score': 0.37}]
chr15 GH15I082763 82763183 82764491 0.77 [{'connected_gene': 'WHAMM', 'score': 27.44}, {'connected_gene': 'HDGFL3', 'score': 6.37}, {'connected_gene': 'SCARNA15', 'score': 0.44}, {'connected_gene': 'GC15P082732', 'score': 0.29}, {'connected_gene': 'FSD2', 'score': 0.26}]
chr15 GH15I082803 82803710 82813513 2.77 [{'connected_gene': 'WHAMM', 'score': 626.7}, {'connected_gene': 'FSD2', 'score': 550.77}, {'connected_gene': 'AP3B2', 'score': 26.17}, {'connected_gene': 'FAM103A1', 'score': 14.52}, {'connected_gene': 'SCARNA15', 'score': 11.34}, {'connected_gene': 'EFL1', 'score': 11.09}, {'connected_gene': 'GOLGA6L9', 'score': 9.76}, {'connected_gene': 'C15orf40', 'score': 4.53}, {'connected_gene': 'GC15M082841', 'score': 0.28}]
chr15 GH15I082749 82749202 82752469 1.57 [{'connected_gene': 'SNHG21', 'score': 550.77}, {'connected_gene': 'AP3B2', 'score': 11.43}, {'connected_gene': 'FSD2', 'score': 10.74}, {'connected_gene': 'HOMER2', 'score': 10.34}, {'connected_gene': 'C15orf40', 'score': 9.8}, {'connected_gene': 'HDGFL3', 'score': 5.93}, {'connected_gene': 'GOLGA6L10', 'score': 5.81}, {'connected_gene': 'GC15M082753', 'score': 0.77}, {'connected_gene': 'ENSG00000259442', 'score': 0.44}, {'connected_gene': 'GC15P082732', 'score': 0.37}]
chr15 GH15I082743 82743404 82743457 0.22 [{'connected_gene': 'ENSG00000259442', 'score': 550.77}, {'connected_gene': 'AP3B2', 'score': 11.74}, {'connected_gene': 'FSD2', 'score': 10.14}, {'connected_gene': 'HDGFL3', 'score': 5.99}, {'connected_gene': 'ACTG1P17', 'score': 0.77}, {'connected_gene': 'GC15P082732', 'score': 0.39}]
chr15 GH15I082741 82741396 82743274 0.31 [{'connected_gene': 'ENSG00000259442', 'score': 550.77}, {'connected_gene': 'AP3B2', 'score': 17.78}, {'connected_gene': 'FSD2', 'score': 16.44}, {'connected_gene': 'GOLGA6L9', 'score': 9.53}, {'connected_gene': 'ACTG1P17', 'score': 0.77}, {'connected_gene': 'GC15P082732', 'score': 0.44}]
chr15 GH15I083734 83734529 83734678 0.56 [{'connected_gene': 'GC15M083715', 'score': 550.77}, {'connected_gene': 'GC15M083714', 'score': 550.77}, {'connected_gene': 'FSD2', 'score': 4.28}, {'connected_gene': 'RNU6-401P', 'score': 0.37}, {'connected_gene': 'ADAMTSL3', 'score': 0.18}]