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
ENST00000306730 [[34158427, 34158929], [34159695, 34160056], [34163135, 34163231], [34168125, 34168196], [34295232, 34295410], [34330980, 34331377]] [[34158813, 34158929], [34159695, 34160056], [34163135, 34163231], [34168125, 34168196], [34295232, 34295410], [34330980, 34331247]]
ENST00000560649 [[34158907, 34158929], [34159695, 34159791], [34163135, 34163231], [34168125, 34168195]] [[34159779, 34159791], [34163135, 34163231], [34168125, 34168195]]
ENST00000558136 [[34159973, 34160056], [34163135, 34163231], [34168125, 34168196], [34175852, 34175937], [34177821, 34177939]] None
NM_020371 [[34158427, 34158929], [34159695, 34160056], [34163135, 34163231], [34168125, 34168196], [34295232, 34295410], [34330980, 34331303]] [[34158813, 34158929], [34159695, 34160056], [34163135, 34163231], [34168125, 34168196], [34295232, 34295410], [34330980, 34331247]]
Promoter
Chrom Start End Description
chr15 34331243 34331429 CAGE_peak_1_at_AVEN_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I034116 34116344 34120149 0.49 [{'connected_gene': 'KATNBL1', 'score': 11.13}, {'connected_gene': 'AVEN', 'score': 10.61}, {'connected_gene': 'PGBD4', 'score': 5.69}, {'connected_gene': 'PIR44117', 'score': 0.39}]
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 GH15I034182 34182478 34183993 0.6 [{'connected_gene': 'NOP10', 'score': 17.71}, {'connected_gene': 'KATNBL1', 'score': 17.47}, {'connected_gene': 'AVEN', 'score': 10.79}, {'connected_gene': 'PIR44117', 'score': 0.18}]
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 GH15I034100 34100408 34103037 2.05 [{'connected_gene': 'PGBD4', 'score': 557.14}, {'connected_gene': 'EMC7', 'score': 550.77}, {'connected_gene': 'AVEN', 'score': 20.26}, {'connected_gene': 'KATNBL1', 'score': 11.05}, {'connected_gene': 'HNRNPLP2', 'score': 11.04}, {'connected_gene': 'EMC4', 'score': 10.73}, {'connected_gene': 'RPL32P2', 'score': 0.37}]
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 GH15I033866 33866440 33866689 0.59 [{'connected_gene': 'LOC101929988', 'score': 550.77}, {'connected_gene': 'ENSG00000259287', 'score': 550.77}, {'connected_gene': 'GC15M033869', 'score': 0.77}, {'connected_gene': 'AVEN', 'score': 0.08}]
chr15 GH15I033867 33866200 33866369 0.52 [{'connected_gene': 'LOC101929988', 'score': 550.77}, {'connected_gene': 'ENSG00000259287', 'score': 550.77}, {'connected_gene': 'GC15M033869', 'score': 0.77}, {'connected_gene': 'AVEN', 'score': 0.08}]
chr15 GH15I033720 33720500 33723138 0.94 [{'connected_gene': 'GC15P033723', 'score': 550.77}, {'connected_gene': 'ENSG00000200008', 'score': 550.77}, {'connected_gene': 'RYR3', 'score': 10.24}, {'connected_gene': 'LOC101928134', 'score': 6.51}, {'connected_gene': 'AVEN', 'score': 4.38}, {'connected_gene': 'C1QBPP3', 'score': 0.31}]
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}]