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
ENST00000560035 [[34260920, 34261351], [34354843, 34354984]] [[34354918, 34354984]]
ENST00000383263 [[34261088, 34261351], [34338740, 34339072], [34354843, 34357291]] [[34354918, 34356517]]
ENST00000557872 [[34310427, 34310666], [34354843, 34357291]] [[34354918, 34356517]]
NM_001320917 [[34260514, 34261351], [34354843, 34357295]] [[34354918, 34356517]]
NM_012125 [[34261088, 34261351], [34338740, 34339072], [34354843, 34357287]] [[34354918, 34356517]]
Promoter
Chrom Start End Description
chr15 34260460 34260472 CAGE_peak_2_at_CHRM5_5end
chr15 34260686 34260710 CAGE_peak_1_at_CHRM5_5end
chr15 34260755 34260766 CAGE_peak_3_at_CHRM5_5end
chr15 34338836 34338844 CAGE_peak_4_at_CHRM5_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I034055 34055217 34057854 0.58 [{'connected_gene': 'AVEN', 'score': 12.37}, {'connected_gene': 'KATNBL1', 'score': 11.74}, {'connected_gene': 'EMC4', 'score': 10.94}, {'connected_gene': 'GC15M034069', 'score': 0.39}, {'connected_gene': 'ENSG00000259505', 'score': 0.2}, {'connected_gene': 'CHRM5', 'score': 0.17}]
chr15 GH15I034046 34046428 34049829 0.97 [{'connected_gene': 'AVEN', 'score': 16.07}, {'connected_gene': 'CHRM5', 'score': 8.86}, {'connected_gene': 'GC15M034069', 'score': 0.34}, {'connected_gene': 'ENSG00000259505', 'score': 0.22}]
chr15 GH15I034037 34037800 34040580 1.93 [{'connected_gene': 'AVEN', 'score': 564.82}, {'connected_gene': 'GC15M034069', 'score': 0.29}, {'connected_gene': 'ENSG00000259505', 'score': 0.25}, {'connected_gene': 'CHRM5', 'score': 0.19}]
chr15 GH15I033984 33984753 33986132 0.84 [{'connected_gene': 'NUTM1', 'score': 21.61}, {'connected_gene': 'CHRM5', 'score': 12.73}, {'connected_gene': 'AVEN', 'score': 11.28}, {'connected_gene': 'ENSG00000259505', 'score': 0.44}, {'connected_gene': 'ENSG00000278472', 'score': 0.39}]
chr15 GH15I034000 34000191 34000250 0.5 [{'connected_gene': 'CHRM5', 'score': 550.29}, {'connected_gene': 'AVEN', 'score': 10.85}, {'connected_gene': 'ENSG00000259505', 'score': 0.44}, {'connected_gene': 'GC15M034069', 'score': 0.2}]
chr15 GH15I033956 33956040 33956189 0.64 [{'connected_gene': 'CHRM5', 'score': 0.39}, {'connected_gene': 'GC15M033869', 'score': 0.17}, {'connected_gene': 'AVEN', 'score': 0.13}]
chr15 GH15I034011 34011229 34012257 0.2 [{'connected_gene': 'CHRM5', 'score': 8.38}, {'connected_gene': 'ENSG00000259505', 'score': 0.34}, {'connected_gene': 'GC15M034069', 'score': 0.22}, {'connected_gene': 'AVEN', 'score': 0.21}]
chr15 GH15I033957 33956520 33956669 0.57 [{'connected_gene': 'CHRM5', 'score': 0.39}, {'connected_gene': 'GC15M033869', 'score': 0.17}, {'connected_gene': 'AVEN', 'score': 0.13}]
chr15 GH15I033968 33968839 33968898 0.7 [{'connected_gene': 'CHRM5', 'score': 550.77}, {'connected_gene': 'ENSG00000278472', 'score': 0.77}, {'connected_gene': 'AVEN', 'score': 0.14}]
chr15 GH15I033976 33976417 33978229 0.2 [{'connected_gene': 'ENSG00000278472', 'score': 0.77}, {'connected_gene': 'CHRM5', 'score': 0.44}, {'connected_gene': 'ENSG00000259505', 'score': 0.39}, {'connected_gene': 'AVEN', 'score': 0.15}]
chr15 GH15I033915 33915520 33916549 0.72 [{'connected_gene': 'GC15M033869', 'score': 0.25}, {'connected_gene': 'CHRM5', 'score': 0.23}, {'connected_gene': 'AVEN', 'score': 0.1}]
chr15 GH15I033991 33991213 33992483 0.31 [{'connected_gene': 'ENSG00000259505', 'score': 550.77}, {'connected_gene': 'CHRM5', 'score': 11.44}, {'connected_gene': 'AVEN', 'score': 10.88}, {'connected_gene': 'GC15M034069', 'score': 0.18}]
chr15 GH15I033979 33979276 33980745 0.38 [{'connected_gene': 'ENSG00000278472', 'score': 0.44}, {'connected_gene': 'CHRM5', 'score': 0.39}, {'connected_gene': 'ENSG00000259505', 'score': 0.39}, {'connected_gene': 'AVEN', 'score': 0.16}]
chr15 GH15I033971 33971853 33972161 0.59 [{'connected_gene': 'ENSG00000278472', 'score': 550.77}, {'connected_gene': 'CHRM5', 'score': 6.51}, {'connected_gene': 'NUTM1', 'score': 2.54}, {'connected_gene': 'AVEN', 'score': 0.15}]