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
ENST00000394205 [[141178439, 141178564], [141264774, 141264862], [141300274, 141300346], [141300722, 141300806], [141302115, 141303710]] [[141264792, 141264862], [141300274, 141300346], [141300722, 141300806], [141302115, 141302258]]
ENST00000338517 [[141264596, 141264623], [141264774, 141264862], [141300274, 141300346], [141300722, 141300806], [141302115, 141303708]] [[141264792, 141264862], [141300274, 141300346], [141300722, 141300806], [141302115, 141302258]]
ENST00000394203 [[141264614, 141264862], [141300274, 141300346], [141300722, 141300806], [141302115, 141303710]] [[141264792, 141264862], [141300274, 141300346], [141300722, 141300806], [141302115, 141302258]]
ENST00000506322 [[141264754, 141264862], [141297828, 141297932], [141300274, 141300346], [141300722, 141300806], [141302115, 141302434]] [[141300324, 141300346], [141300722, 141300806], [141302115, 141302258]]
ENST00000512749 [[141294627, 141294698], [141300274, 141300346], [141300722, 141300806], [141302115, 141302729]] [[141300324, 141300346], [141300722, 141300806], [141302115, 141302258]]
ENST00000608372 [[141294663, 141294871], [141300274, 141300346], [141300722, 141300806], [141302115, 141306880]] [[141294690, 141294871], [141300274, 141300346], [141300722, 141300806], [141302115, 141302258]]
ENST00000506597 [[141294689, 141294871], [141300274, 141300346], [141302115, 141303699]] [[141294690, 141294871], [141300274, 141300346], [141302115, 141302258]]
ENST00000394201 [[141294796, 141294871], [141300274, 141300346], [141300722, 141300806], [141302115, 141303679]] [[141300324, 141300346], [141300722, 141300806], [141302115, 141302258]]
ENST00000510586 [[141294802, 141294871], [141295090, 141295470], [141300274, 141300346], [141300722, 141300806], [141302115, 141303703]] [[141300324, 141300346], [141300722, 141300806], [141302115, 141302258]]
ENST00000502535 [[141297574, 141297932], [141300274, 141300346], [141300722, 141300806], [141302115, 141302280]] [[141300324, 141300346], [141300722, 141300806], [141302115, 141302258]]
NM_032547 [[141178439, 141178564], [141264774, 141264862], [141300274, 141300346], [141300722, 141300806], [141302115, 141303710]] [[141264792, 141264862], [141300274, 141300346], [141300722, 141300806], [141302115, 141302258]]
NM_001153635 [[141264596, 141264623], [141264774, 141264862], [141300274, 141300346], [141300725, 141300806], [141302115, 141303710]] [[141264792, 141264862], [141300274, 141300346], [141300725, 141300806], [141302115, 141302258]]
NM_001153446 [[141264596, 141264623], [141264774, 141264862], [141300274, 141300346], [141300722, 141300806], [141302115, 141303710]] [[141264792, 141264862], [141300274, 141300346], [141300722, 141300806], [141302115, 141302258]]
NM_001153690 [[141264614, 141264862], [141300274, 141300346], [141302115, 141303710]] [[141264792, 141264862], [141300274, 141300346], [141302115, 141302258]]
NM_001153585 [[141264614, 141264862], [141300274, 141300346], [141300722, 141300806], [141302115, 141303710]] [[141264792, 141264862], [141300274, 141300346], [141300722, 141300806], [141302115, 141302258]]
NM_001153552 [[141294663, 141294871], [141300274, 141300346], [141302115, 141303710]] [[141294690, 141294871], [141300274, 141300346], [141302115, 141302258]]
NM_001153663 [[141294663, 141294871], [141300274, 141300346], [141300725, 141300806], [141302115, 141303710]] [[141294690, 141294871], [141300274, 141300346], [141300725, 141300806], [141302115, 141302258]]
NM_001153484 [[141294663, 141294871], [141300274, 141300346], [141300722, 141300806], [141302115, 141303710]] [[141294690, 141294871], [141300274, 141300346], [141300722, 141300806], [141302115, 141302258]]
Promoter
Chrom Start End Description
chr4 141178456 141178472 CAGE_peak_5_at_SCOC_5end
chr4 141264748 141264760 CAGE_peak_4_at_SCOC_5end
chr4 141264761 141264778 CAGE_peak_3_at_SCOC_5end
chr4 141294769 141294821 CAGE_peak_1_at_SCOC_5end
chr4 141294822 141294849 CAGE_peak_2_at_SCOC_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I140366 140366419 140366604 0.34 [{'connected_gene': 'RPL14P3', 'score': 550.77}, {'connected_gene': 'CLGN', 'score': 10.1}, {'connected_gene': 'SCOC-AS1', 'score': 0.44}, {'connected_gene': 'NDUFB4P9', 'score': 0.23}, {'connected_gene': 'SCOC', 'score': 0.14}]
chr4 GH04I140295 140295485 140297532 1.27 [{'connected_gene': 'SCOC', 'score': 13.31}, {'connected_gene': 'UCP1', 'score': 9.47}, {'connected_gene': 'MAML3', 'score': 1.55}, {'connected_gene': 'NDUFB4P9', 'score': 0.37}, {'connected_gene': 'SCOC-AS1', 'score': 0.18}]
chr4 GH04I140286 140286359 140286834 0.45 [{'connected_gene': 'SCOC', 'score': 15.07}, {'connected_gene': 'MAML3', 'score': 1.31}, {'connected_gene': 'NDUFB4P9', 'score': 0.31}, {'connected_gene': 'SCOC-AS1', 'score': 0.17}]
chr4 GH04I139733 139733045 139737200 1.3 [{'connected_gene': 'SCOC', 'score': 11.28}, {'connected_gene': 'MAML3', 'score': 1.38}, {'connected_gene': 'GC04P139731', 'score': 0.77}, {'connected_gene': 'RN7SKP253', 'score': 0.22}, {'connected_gene': 'MGST2', 'score': 0.2}]
chr4 GH04I139856 139856802 139857622 1.04 [{'connected_gene': 'SCOC', 'score': 10.59}, {'connected_gene': 'MAML3', 'score': 4.41}, {'connected_gene': 'GC04M139789', 'score': 0.29}, {'connected_gene': 'LOC105377452', 'score': 0.19}]
chr4 GH04I140307 140307321 140310165 0.77 [{'connected_gene': 'SCOC', 'score': 11.89}, {'connected_gene': 'MAML3', 'score': 10.07}, {'connected_gene': 'LOC101927516', 'score': 9.88}, {'connected_gene': 'CLGN', 'score': 5.76}, {'connected_gene': 'NDUFB4P9', 'score': 0.44}, {'connected_gene': 'SCOC-AS1', 'score': 0.21}]
chr4 GH04I140250 140250726 140258202 2.07 [{'connected_gene': 'SCOC', 'score': 550.77}, {'connected_gene': 'MAML3', 'score': 13.72}, {'connected_gene': 'LOC101927516', 'score': 10.68}]
chr4 GH04I140186 140186327 140187596 0.52 [{'connected_gene': 'SCOC', 'score': 10.36}, {'connected_gene': 'MAML3', 'score': 0.29}]
chr4 GH04I140211 140211531 140214382 0.31 [{'connected_gene': 'SCOC', 'score': 0.26}, {'connected_gene': 'MAML3', 'score': 0.22}]
chr4 GH04I140342 140342735 140344139 1.09 [{'connected_gene': 'SCOC', 'score': 550.17}, {'connected_gene': 'CLGN', 'score': 22.94}, {'connected_gene': 'MAML3', 'score': 15.85}, {'connected_gene': 'ELMOD2', 'score': 11.6}, {'connected_gene': 'RPL14P3', 'score': 0.34}, {'connected_gene': 'SCOC-AS1', 'score': 0.31}, {'connected_gene': 'NDUFB4P9', 'score': 0.31}]
chr4 GH04I140266 140266495 140268850 0.49 [{'connected_gene': 'SCOC', 'score': 0.39}, {'connected_gene': 'NDUFB4P9', 'score': 0.25}]
chr4 GH04I140259 140259752 140261004 0.65 [{'connected_gene': 'SCOC', 'score': 0.77}, {'connected_gene': 'NDUFB4P9', 'score': 0.23}]
chr4 GH04I139738 139738552 139742085 1.14 [{'connected_gene': 'SCOC', 'score': 11.28}, {'connected_gene': 'GC04P139731', 'score': 0.44}, {'connected_gene': 'RN7SKP253', 'score': 0.23}, {'connected_gene': 'MGST2', 'score': 0.19}, {'connected_gene': 'MAML3', 'score': 0.05}]
chr4 GH04I139690 139690721 139693142 1.1 [{'connected_gene': 'SCOC', 'score': 10.08}, {'connected_gene': 'RN7SKP237', 'score': 0.44}, {'connected_gene': 'GC04M139686', 'score': 0.44}, {'connected_gene': 'H3F3AP6', 'score': 0.44}, {'connected_gene': 'MGST2', 'score': 0.31}]
chr4 GH04I139876 139876601 139876800 0.43 [{'connected_gene': 'SCOC', 'score': 10.27}, {'connected_gene': 'LOC105377452', 'score': 0.23}, {'connected_gene': 'GC04M139789', 'score': 0.23}, {'connected_gene': 'MAML3', 'score': 0.06}]
chr4 GH04I139956 139956801 139957000 0.43 [{'connected_gene': 'SCOC', 'score': 10.86}, {'connected_gene': 'GC04M139976', 'score': 0.34}, {'connected_gene': 'LOC105377452', 'score': 0.31}, {'connected_gene': 'MAML3', 'score': 0.08}]
chr4 GH04I139943 139943227 139943834 0.43 [{'connected_gene': 'SCOC', 'score': 9.98}, {'connected_gene': 'LOC105377452', 'score': 0.39}, {'connected_gene': 'GC04M139976', 'score': 0.28}, {'connected_gene': 'MAML3', 'score': 0.08}]
chr4 GH04I139912 139912257 139914921 0.88 [{'connected_gene': 'SCOC', 'score': 10.9}, {'connected_gene': 'LOC105377452', 'score': 0.37}, {'connected_gene': 'GC04M139789', 'score': 0.17}, {'connected_gene': 'MAML3', 'score': 0.07}]
chr4 GH04I139875 139875283 139875852 0.54 [{'connected_gene': 'SCOC', 'score': 10.27}, {'connected_gene': 'GC04M139789', 'score': 0.25}, {'connected_gene': 'LOC105377452', 'score': 0.23}, {'connected_gene': 'MAML3', 'score': 0.06}]
chr4 GH04I140130 140130173 140131233 0.74 [{'connected_gene': 'SCOC', 'score': 10.04}, {'connected_gene': 'LOC101927516', 'score': 0.77}, {'connected_gene': 'GC04M140150', 'score': 0.34}, {'connected_gene': 'MAML3', 'score': 0.34}]
chr4 GH04I140219 140219167 140219621 0.2 [{'connected_gene': 'SCOC', 'score': 10.85}, {'connected_gene': 'LOC101927516', 'score': 10.33}, {'connected_gene': 'MAML3', 'score': 0.2}]
chr4 GH04I140109 140109691 140110007 0.72 [{'connected_gene': 'SCOC', 'score': 10.36}, {'connected_gene': 'LOC101927516', 'score': 0.37}, {'connected_gene': 'MAML3', 'score': 0.26}, {'connected_gene': 'GC04M140002', 'score': 0.15}]
chr4 GH04I140222 140222508 140224242 0.43 [{'connected_gene': 'SCOC', 'score': 11.34}, {'connected_gene': 'LOC101927516', 'score': 10.43}, {'connected_gene': 'CLGN', 'score': 4.34}, {'connected_gene': 'MAML3', 'score': 0.2}]
chr4 GH04I139871 139871602 139873963 1.15 [{'connected_gene': 'MAML3', 'score': 29.25}, {'connected_gene': 'SCOC', 'score': 10.54}, {'connected_gene': 'GC04M139789', 'score': 0.25}, {'connected_gene': 'LOC105377452', 'score': 0.22}]
chr4 GH04I140233 140233414 140234825 0.63 [{'connected_gene': 'MAML3', 'score': 12.18}, {'connected_gene': 'SCOC', 'score': 11.61}, {'connected_gene': 'LOC101927516', 'score': 10.8}]
chr4 GH04I140157 140157751 140158314 0.43 [{'connected_gene': 'MAML3', 'score': 0.77}, {'connected_gene': 'SCOC', 'score': 0.15}]
chr4 GH04I140155 140155907 140157202 0.99 [{'connected_gene': 'MAML3', 'score': 4.78}, {'connected_gene': 'SCOC', 'score': 0.15}]
chr4 GH04I140158 140158401 140158800 1.03 [{'connected_gene': 'MAML3', 'score': 0.77}, {'connected_gene': 'SCOC', 'score': 0.15}]
chr4 GH04I140189 140189047 140189156 0.52 [{'connected_gene': 'MAML3', 'score': 0.29}, {'connected_gene': 'SCOC', 'score': 0.2}]
chr4 GH04I140236 140236524 140239677 1.2 [{'connected_gene': 'MAML3', 'score': 12.78}, {'connected_gene': 'RNF150', 'score': 10.35}, {'connected_gene': 'SCOC', 'score': 0.37}]
chr4 GH04I140242 140242225 140244702 1.27 [{'connected_gene': 'MAML3', 'score': 15.65}, {'connected_gene': 'LOC101927516', 'score': 10.71}, {'connected_gene': 'SCOC', 'score': 0.39}]
chr4 GH04I140058 140058725 140059844 0.71 [{'connected_gene': 'MAML3', 'score': 11.51}, {'connected_gene': 'LOC101927516', 'score': 11.23}, {'connected_gene': 'SCOC', 'score': 10.73}, {'connected_gene': 'GC04M140002', 'score': 0.23}]
chr4 GH04I140362 140362418 140364227 0.83 [{'connected_gene': 'CLGN', 'score': 18.69}, {'connected_gene': 'UCP1', 'score': 10.13}, {'connected_gene': 'RPL14P3', 'score': 0.77}, {'connected_gene': 'SCOC-AS1', 'score': 0.39}, {'connected_gene': 'NDUFB4P9', 'score': 0.25}, {'connected_gene': 'SCOC', 'score': 0.14}]
chr4 GH04I140345 140345985 140347135 0.38 [{'connected_gene': 'CLGN', 'score': 12.75}, {'connected_gene': 'RPL14P3', 'score': 0.34}, {'connected_gene': 'SCOC-AS1', 'score': 0.31}, {'connected_gene': 'NDUFB4P9', 'score': 0.29}, {'connected_gene': 'SCOC', 'score': 0.17}]
chr4 GH04I140359 140359927 140360076 0.72 [{'connected_gene': 'CLGN', 'score': 11.24}, {'connected_gene': 'MAML3', 'score': 10.17}, {'connected_gene': 'UCP1', 'score': 10.13}, {'connected_gene': 'RPL14P3', 'score': 0.44}, {'connected_gene': 'SCOC-AS1', 'score': 0.39}, {'connected_gene': 'NDUFB4P9', 'score': 0.25}, {'connected_gene': 'SCOC', 'score': 0.15}]
chr4 GH04I140360 140360167 140360316 0.69 [{'connected_gene': 'CLGN', 'score': 11.24}, {'connected_gene': 'MAML3', 'score': 10.17}, {'connected_gene': 'UCP1', 'score': 10.13}, {'connected_gene': 'RPL14P3', 'score': 0.44}, {'connected_gene': 'SCOC-AS1', 'score': 0.39}, {'connected_gene': 'NDUFB4P9', 'score': 0.25}, {'connected_gene': 'SCOC', 'score': 0.15}]
chr4 GH04I140331 140331401 140331600 0.31 [{'connected_gene': 'CLGN', 'score': 9.66}, {'connected_gene': 'NDUFB4P9', 'score': 0.37}, {'connected_gene': 'RPL14P3', 'score': 0.28}, {'connected_gene': 'SCOC-AS1', 'score': 0.26}, {'connected_gene': 'SCOC', 'score': 0.19}]
chr4 GH04I140300 140300367 140300556 0.62 [{'connected_gene': 'NDUFB4P9', 'score': 0.39}, {'connected_gene': 'SCOC', 'score': 0.26}, {'connected_gene': 'SCOC-AS1', 'score': 0.19}]
chr4 GH04I139798 139798587 139798736 0.2 [{'connected_gene': 'LOC105377453', 'score': 550.77}, {'connected_gene': 'SCOC', 'score': 10.71}, {'connected_gene': 'GC04M139789', 'score': 0.31}, {'connected_gene': 'MAML3', 'score': 0.05}]
chr4 GH04I140028 140028240 140029498 0.31 [{'connected_gene': 'LOC101927516', 'score': 11.22}, {'connected_gene': 'SCOC', 'score': 10.42}, {'connected_gene': 'MAML3', 'score': 5.45}, {'connected_gene': 'GC04M140002', 'score': 0.34}]
chr4 GH04I140162 140162478 140163858 0.69 [{'connected_gene': 'LOC101927516', 'score': 11.17}, {'connected_gene': 'SCOC', 'score': 10.56}, {'connected_gene': 'MAML3', 'score': 0.44}]
chr4 GH04I140372 140372528 140374732 1.49 [{'connected_gene': 'SCOC-AS1', 'score': 550.77}, {'connected_gene': 'CLGN', 'score': 19.45}, {'connected_gene': 'UCP1', 'score': 10.57}, {'connected_gene': 'SCOC', 'score': 0.13}]

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