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
ENST00000299138 [[46690053, 46694563], [46695629, 46695773], [46696154, 46696394], [46696894, 46697074], [46702841, 46702964], [46705616, 46705772], [46706176, 46706384], [46708225, 46708374], [46708475, 46708572], [46710494, 46710604], [46711226, 46711310], [46712854, 46713068], [46714582, 46714765], [46715288, 46715412], [46715990, 46716087], [46717419, 46717518], [46723042, 46723104]] [[46694383, 46694563], [46695629, 46695773], [46696154, 46696394], [46696894, 46697074], [46702841, 46702964], [46705616, 46705772], [46706176, 46706384], [46708225, 46708374], [46708475, 46708572], [46710494, 46710604], [46711226, 46711310], [46712854, 46713068], [46714582, 46714765], [46715288, 46715412], [46715990, 46716087], [46717419, 46717518], [46723042, 46723045]]
ENST00000568784 [[46693588, 46694563], [46695629, 46695773], [46696154, 46696394], [46696894, 46697074], [46702841, 46702964], [46705616, 46705772], [46706176, 46706384], [46708225, 46708374], [46708475, 46708572], [46710494, 46710604], [46711226, 46711310], [46712854, 46713068], [46714582, 46714765], [46715288, 46715412], [46715990, 46716087], [46717419, 46717518], [46722225, 46723059]] [[46722898, 46723045]]
ENST00000562420 [[46695738, 46695773], [46696154, 46696394], [46696894, 46697074], [46702841, 46703126]] None
ENST00000568642 [[46706329, 46706384], [46708475, 46708572], [46710494, 46710604], [46711226, 46711310], [46712854, 46712955]] None
ENST00000569950 [[46710416, 46710604], [46711226, 46711310], [46712854, 46713068], [46714582, 46714765], [46715288, 46715432], [46717419, 46717518], [46723246, 46723430]] None
ENST00000565228 [[46710489, 46710604], [46711226, 46711598]] None
ENST00000563884 [[46714586, 46714765], [46715288, 46715868]] None
ENST00000568612 [[46714598, 46714765], [46715288, 46715412], [46715990, 46716087], [46716389, 46716578], [46717419, 46717518], [46723042, 46723063]] [[46716554, 46716578], [46717419, 46717518], [46723042, 46723045]]
ENST00000561713 [[46715290, 46715412], [46715990, 46716087], [46716389, 46716596], [46717419, 46717518], [46723042, 46723106]] [[46716554, 46716596], [46717419, 46717518], [46723042, 46723045]]
ENST00000568191 [[46715667, 46716087], [46717419, 46717519]] None
ENST00000563984 [[46716793, 46717518], [46723042, 46723092]] None
NM_018206 [[46691890, 46694563], [46695629, 46695773], [46696154, 46696394], [46696894, 46697074], [46702841, 46702964], [46705616, 46705772], [46706176, 46706384], [46708225, 46708374], [46708475, 46708572], [46710494, 46710604], [46711226, 46711310], [46712854, 46713068], [46714582, 46714765], [46715288, 46715412], [46715990, 46716087], [46717419, 46717518], [46723042, 46723144]] [[46694383, 46694563], [46695629, 46695773], [46696154, 46696394], [46696894, 46697074], [46702841, 46702964], [46705616, 46705772], [46706176, 46706384], [46708225, 46708374], [46708475, 46708572], [46710494, 46710604], [46711226, 46711310], [46712854, 46713068], [46714582, 46714765], [46715288, 46715412], [46715990, 46716087], [46717419, 46717518], [46723042, 46723045]]
Promoter
Chrom Start End Description
chr16 46722530 46722554 CAGE_peak_6_at_VPS35_5end
chr16 46723066 46723121 CAGE_peak_1_at_VPS35_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I046746 46746478 46750226 1.76 [{'connected_gene': 'MYLK3', 'score': 566.38}, {'connected_gene': 'SHCBP1', 'score': 13.34}, {'connected_gene': 'ORC6', 'score': 11.25}, {'connected_gene': 'VPS35', 'score': 11.25}, {'connected_gene': 'GPT2', 'score': 3.82}, {'connected_gene': 'GC16M046768', 'score': 0.31}, {'connected_gene': 'GC16P046705', 'score': 0.26}]
chr16 GH16I046735 46735361 46738937 0.38 [{'connected_gene': 'MYLK3', 'score': 12.11}, {'connected_gene': 'ORC6', 'score': 11.52}, {'connected_gene': 'VPS35', 'score': 11.52}, {'connected_gene': 'SHCBP1', 'score': 11.3}, {'connected_gene': 'GPT2', 'score': 3.81}, {'connected_gene': 'GC16P046705', 'score': 0.29}, {'connected_gene': 'GC16M046768', 'score': 0.28}]
chr16 GH16I046711 46711201 46711800 0.92 [{'connected_gene': 'MYLK3', 'score': 11.96}, {'connected_gene': 'ORC6', 'score': 11.52}, {'connected_gene': 'VPS35', 'score': 11.52}, {'connected_gene': 'GC16P046705', 'score': 0.44}, {'connected_gene': 'GC16M046768', 'score': 0.21}]
chr16 GH16I046710 46710514 46711065 0.2 [{'connected_gene': 'MYLK3', 'score': 11.96}, {'connected_gene': 'ORC6', 'score': 11.52}, {'connected_gene': 'VPS35', 'score': 11.52}, {'connected_gene': 'GC16P046705', 'score': 0.44}, {'connected_gene': 'GC16M046768', 'score': 0.21}]
chr16 GH16I046836 46836801 46837400 0.46 [{'connected_gene': 'GPT2', 'score': 11.47}, {'connected_gene': 'ORC6', 'score': 11.11}, {'connected_gene': 'VPS35', 'score': 11.11}, {'connected_gene': 'MYLK3', 'score': 10.6}, {'connected_gene': 'C16orf87', 'score': 0.44}, {'connected_gene': 'CKBP1', 'score': 0.44}]
chr16 GH16I046727 46727729 46734556 0.38 [{'connected_gene': 'SHCBP1', 'score': 12.95}, {'connected_gene': 'MYLK3', 'score': 12.1}, {'connected_gene': 'ORC6', 'score': 11.54}, {'connected_gene': 'VPS35', 'score': 11.54}, {'connected_gene': 'ANKRD26P1', 'score': 5.55}, {'connected_gene': 'C16orf87', 'score': 4.23}, {'connected_gene': 'GC16P046705', 'score': 0.31}, {'connected_gene': 'GC16M046768', 'score': 0.26}]
chr16 GH16I046832 46832869 46833018 0.71 [{'connected_gene': 'C16orf87', 'score': 550.77}, {'connected_gene': 'ORC6', 'score': 11.11}, {'connected_gene': 'VPS35', 'score': 11.11}, {'connected_gene': 'GPT2', 'score': 11.06}, {'connected_gene': 'CKBP1', 'score': 0.39}]
chr16 GH16I046686 46686163 46691941 2.06 [{'connected_gene': 'ORC6', 'score': 550.77}, {'connected_gene': 'VPS35', 'score': 550.77}, {'connected_gene': 'GPT2', 'score': 13.88}, {'connected_gene': 'SHCBP1', 'score': 12.64}, {'connected_gene': 'ENSG00000261131', 'score': 12.39}, {'connected_gene': 'MYLK3', 'score': 10.89}, {'connected_gene': 'ANKRD26P1', 'score': 5.78}, {'connected_gene': 'ENSG00000280376', 'score': 0.37}]
chr16 GH16I046809 46809601 46810200 0.38 [{'connected_gene': 'ORC6', 'score': 11.03}, {'connected_gene': 'VPS35', 'score': 11.03}, {'connected_gene': 'GPT2', 'score': 10.27}, {'connected_gene': 'GC16P046804', 'score': 0.44}, {'connected_gene': 'C16orf87', 'score': 0.34}]
chr16 GH16I046611 46611987 46612899 0.43 [{'connected_gene': 'ORC6', 'score': 11.27}, {'connected_gene': 'VPS35', 'score': 11.27}, {'connected_gene': 'SHCBP1', 'score': 0.39}, {'connected_gene': 'GC16P046596', 'score': 0.37}, {'connected_gene': 'GC16P046597', 'score': 0.37}]
chr16 GH16I046658 46658513 46660013 0.83 [{'connected_gene': 'ORC6', 'score': 11.87}, {'connected_gene': 'VPS35', 'score': 11.87}, {'connected_gene': 'ENSG00000261131', 'score': 0.77}, {'connected_gene': 'PIR53331', 'score': 0.44}]
chr16 GH16I046843 46843923 46845162 0.38 [{'connected_gene': 'CKBP1', 'score': 550.77}, {'connected_gene': 'GPT2', 'score': 12.1}, {'connected_gene': 'ORC6', 'score': 11.23}, {'connected_gene': 'VPS35', 'score': 11.23}, {'connected_gene': 'MYLK3', 'score': 10.91}, {'connected_gene': 'C16orf87', 'score': 0.39}]
chr16 GH16I046673 46673489 46673658 0.79 [{'connected_gene': 'ENSG00000280376', 'score': 550.77}, {'connected_gene': 'ENSG00000261131', 'score': 0.39}, {'connected_gene': 'VPS35', 'score': 0.37}]