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
ENST00000394806 [[46830518, 46836982], [46858297, 46858394], [46864995, 46865074]] [[46836863, 46836982], [46858297, 46858394], [46864995, 46865061]]
ENST00000285697 [[46836005, 46836982], [46843514, 46843697], [46858297, 46858394], [46864995, 46865323]] [[46836863, 46836982], [46843514, 46843697], [46858297, 46858394], [46864995, 46865061]]
ENST00000565112 [[46836629, 46836982], [46841880, 46842046], [46843514, 46843697], [46858297, 46858394], [46864900, 46864980]] [[46841921, 46842046], [46843514, 46843697], [46858297, 46858394], [46864900, 46864980]]
ENST00000564250 [[46836914, 46836982], [46843514, 46843697], [46858297, 46858394], [46864546, 46864671]] None
NM_001001436 [[46835958, 46836982], [46843514, 46843697], [46858297, 46858394], [46864995, 46865074]] [[46836863, 46836982], [46843514, 46843697], [46858297, 46858394], [46864995, 46865061]]
Promoter
Chrom Start End Description
chr16 46865047 46865103 CAGE_peak_1_at_C16orf87_5end
chr16 46865127 46865138 CAGE_peak_4_at_C16orf87_5end
chr16 46865155 46865175 CAGE_peak_3_at_C16orf87_5end
chr16 46865190 46865197 CAGE_peak_7_at_C16orf87_5end
chr16 46865286 46865347 CAGE_peak_2_at_C16orf87_5end
chr16 46865368 46865388 CAGE_peak_5_at_C16orf87_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
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 GH16I046756 46756546 46758278 1.16 [{'connected_gene': 'SHCBP1', 'score': 14.0}, {'connected_gene': 'C16orf87', 'score': 6.53}, {'connected_gene': 'ORC6', 'score': 3.09}, {'connected_gene': 'GC16M046768', 'score': 0.37}, {'connected_gene': 'MYLK3', 'score': 0.29}, {'connected_gene': 'GC16P046705', 'score': 0.23}]
chr16 GH16I046821 46821221 46823450 0.67 [{'connected_gene': 'SHCBP1', 'score': 14.66}, {'connected_gene': 'C16orf87', 'score': 0.44}, {'connected_gene': 'GC16P046804', 'score': 0.37}]
chr16 GH16I046828 46828768 46832167 2.03 [{'connected_gene': 'C16orf87', 'score': 550.77}, {'connected_gene': 'SHCBP1', 'score': 14.44}, {'connected_gene': 'GC16P046804', 'score': 0.31}]
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 GH16I046826 46826587 46827033 0.52 [{'connected_gene': 'C16orf87', 'score': 0.77}, {'connected_gene': 'GC16P046804', 'score': 0.34}]
chr16 GH16I046829 46828001 46828200 0.38 [{'connected_gene': 'C16orf87', 'score': 0.77}, {'connected_gene': 'GC16P046804', 'score': 0.34}]
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 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}]