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
ENST00000309060 [[39807087, 39813841], [39830696, 39833706], [39883227, 39883275], [39897618, 39897723], [39928605, 39928718]] [[39813830, 39813841], [39830696, 39833556]]
ENST00000540170 [[39807090, 39810025], [39810694, 39813841], [39830696, 39833706], [39897629, 39897723], [39928605, 39928721]] [[39813830, 39813841], [39830696, 39833556]]
ENST00000560364 [[39810754, 39813841], [39830696, 39833706], [39897618, 39897723], [39946148, 39946242]] [[39833057, 39833556]]
ENST00000559234 [[39810754, 39813841], [39830696, 39833706], [39897618, 39897723], [39946148, 39946242]] [[39813830, 39813841], [39830696, 39833556]]
ENST00000557816 [[39813460, 39813841], [39832884, 39833706], [39867327, 39867436], [39883227, 39883275], [39897629, 39897723], [39928605, 39928727]] [[39813565, 39813841], [39832884, 39833556]]
ENST00000558993 [[39813460, 39813841], [39832884, 39833706], [39945501, 39945826]] [[39813565, 39813841], [39832884, 39833556]]
ENST00000544979 [[39813466, 39813841], [39830922, 39833706], [39842373, 39842539], [39897629, 39897723], [39900843, 39900898]] [[39813565, 39813841], [39830922, 39833556]]
ENST00000560361 [[39813466, 39813841], [39830696, 39833706], [39842373, 39842539], [39867327, 39867436], [39868237, 39868344], [39896102, 39896252], [39897629, 39897723], [39928605, 39928734]] [[39813830, 39813841], [39830696, 39833556]]
ENST00000432768 [[39813555, 39813841], [39830696, 39833706], [39897629, 39897723], [39928605, 39928766]] [[39813830, 39813841], [39830696, 39833556]]
ENST00000441102 [[39833201, 39833706], [39897629, 39897723], [39946148, 39946237]] [[39833201, 39833556]]
ENST00000373261 [[39833267, 39833706], [39897618, 39897723], [39928605, 39928718]] [[39833267, 39833556]]
ENST00000436440 [[39833287, 39833706], [39842373, 39842539], [39897629, 39897723], [39928605, 39928718]] [[39833287, 39833556]]
ENST00000436099 [[39833413, 39833706], [39867327, 39867436], [39868237, 39868344], [39897629, 39897723], [39928605, 39928714]] [[39833413, 39833556]]
ENST00000419740 [[39833417, 39833706], [39897629, 39897723], [39898050, 39898125], [39900778, 39900893]] [[39833417, 39833556]]
ENST00000487057 [[39842397, 39842539], [39896102, 39896252], [39897618, 39897723], [39928605, 39928730]] None
ENST00000421422 [[39807087, 39813841], [39829925, 39830024], [39830696, 39832681]] [[39829974, 39830024], [39830696, 39832681]]
ENST00000559436 [[39813470, 39813835], [39830922, 39831036]] [[39813565, 39813835], [39830922, 39831036]]
ENST00000561291 [[39867366, 39867436], [39868237, 39868344], [39896102, 39896252], [39897629, 39897723], [39900778, 39900885]] None
ENST00000485686 [[39897620, 39897723], [39928605, 39928757]] None
ENST00000560759 [[39897629, 39897723], [39898050, 39898125], [39900843, 39900904]] None
ENST00000560456 [[39897629, 39897723], [39900566, 39900913]] None
ENST00000559028 [[39897629, 39897723], [39928605, 39928767]] None
ENST00000559296 [[39897629, 39897723], [39946148, 39946312]] None
NM_015035 [[39807088, 39813841], [39830696, 39833706], [39897629, 39897723], [39928605, 39928739]] [[39813830, 39813841], [39830696, 39833556]]
Promoter
Chrom Start End Description
chr20 39928705 39928740 CAGE_peak_11_at_ZHX3_5end
chr20 39928756 39928763 CAGE_peak_20_at_ZHX3_5end
chr20 39946279 39946356 CAGE_peak_1_at_ZHX3_5end
chr20 39946361 39946379 CAGE_peak_2_at_ZHX3_5end
chr20 39946400 39946423 CAGE_peak_3_at_ZHX3_5end
chr20 39946482 39946487 CAGE_peak_12_at_ZHX3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr20 GH20I041260 41260423 41262621 0.89 [{'connected_gene': 'LPIN3', 'score': 21.07}, {'connected_gene': 'EMILIN3', 'score': 10.54}, {'connected_gene': 'TOP1', 'score': 9.72}, {'connected_gene': 'RN7SL615P', 'score': 0.31}, {'connected_gene': 'GC20M041291', 'score': 0.31}, {'connected_gene': 'PIR61683', 'score': 0.22}, {'connected_gene': 'ZHX3', 'score': 0.22}]
chr20 GH20I041145 41145457 41160724 1.7 [{'connected_gene': 'LPIN3', 'score': 26.67}, {'connected_gene': 'EMILIN3', 'score': 10.9}, {'connected_gene': 'ZHX3', 'score': 10.63}, {'connected_gene': 'PLCG1', 'score': 9.91}, {'connected_gene': 'CHD6', 'score': 1.6}, {'connected_gene': 'MIR6871', 'score': 0.37}, {'connected_gene': 'PLCG1-AS1', 'score': 0.37}, {'connected_gene': 'GC20P041111', 'score': 0.26}]
chr20 GH20I041307 41307719 41310695 1.4 [{'connected_gene': 'LPIN3', 'score': 20.37}, {'connected_gene': 'EMILIN3', 'score': 10.47}, {'connected_gene': 'PLCG1-AS1', 'score': 10.11}, {'connected_gene': 'PLCG1', 'score': 10.11}, {'connected_gene': 'ZHX3', 'score': 0.44}, {'connected_gene': 'RN7SL615P', 'score': 0.37}, {'connected_gene': 'GC20M041291', 'score': 0.37}]
chr20 GH20I041238 41238972 41241607 0.31 [{'connected_gene': 'LPIN3', 'score': 11.67}, {'connected_gene': 'EMILIN3', 'score': 11.08}, {'connected_gene': 'PLCG1-AS1', 'score': 10.57}, {'connected_gene': 'PLCG1', 'score': 10.57}, {'connected_gene': 'PIR61683', 'score': 0.28}, {'connected_gene': 'RN7SL615P', 'score': 0.23}, {'connected_gene': 'GC20M041291', 'score': 0.23}, {'connected_gene': 'ZHX3', 'score': 0.18}]
chr20 GH20I041265 41265515 41266553 0.52 [{'connected_gene': 'LPIN3', 'score': 17.96}, {'connected_gene': 'ZHX3', 'score': 11.63}, {'connected_gene': 'EMILIN3', 'score': 10.77}, {'connected_gene': 'RN7SL615P', 'score': 0.34}, {'connected_gene': 'GC20M041291', 'score': 0.34}, {'connected_gene': 'PIR61683', 'score': 0.21}]
chr20 GH20I041231 41231323 41235252 1.54 [{'connected_gene': 'LPIN3', 'score': 23.98}, {'connected_gene': 'ZHX3', 'score': 10.79}, {'connected_gene': 'PIR61683', 'score': 0.31}, {'connected_gene': 'RN7SL615P', 'score': 0.22}, {'connected_gene': 'GC20M041291', 'score': 0.22}]
chr20 GH20I041320 41320523 41323149 0.8 [{'connected_gene': 'LPIN3', 'score': 12.41}, {'connected_gene': 'ZHX3', 'score': 0.77}, {'connected_gene': 'ADI1P1', 'score': 0.44}]
chr20 GH20I041219 41219202 41220441 0.2 [{'connected_gene': 'LPIN3', 'score': 8.63}, {'connected_gene': 'PIR61683', 'score': 0.37}, {'connected_gene': 'RN7SL615P', 'score': 0.19}, {'connected_gene': 'GC20M041291', 'score': 0.19}, {'connected_gene': 'ZHX3', 'score': 0.15}]
chr20 GH20I041241 41241774 41243468 0.62 [{'connected_gene': 'LPIN3', 'score': 12.5}, {'connected_gene': 'PIR61683', 'score': 0.28}, {'connected_gene': 'RN7SL615P', 'score': 0.25}, {'connected_gene': 'GC20M041291', 'score': 0.25}, {'connected_gene': 'ZHX3', 'score': 0.18}]
chr20 GH20I041251 41251705 41252780 0.31 [{'connected_gene': 'LPIN3', 'score': 6.32}, {'connected_gene': 'RN7SL615P', 'score': 0.28}, {'connected_gene': 'GC20M041291', 'score': 0.28}, {'connected_gene': 'PIR61683', 'score': 0.25}, {'connected_gene': 'ZHX3', 'score': 0.2}]
chr20 GH20I041246 41246450 41251692 1.5 [{'connected_gene': 'LPIN3', 'score': 9.02}, {'connected_gene': 'PIR61683', 'score': 0.26}, {'connected_gene': 'RN7SL615P', 'score': 0.26}, {'connected_gene': 'GC20M041291', 'score': 0.26}, {'connected_gene': 'ZHX3', 'score': 0.2}]
chr20 GH20I041280 41280001 41280200 0.63 [{'connected_gene': 'LPIN3', 'score': 15.66}, {'connected_gene': 'RN7SL615P', 'score': 0.39}, {'connected_gene': 'GC20M041291', 'score': 0.39}, {'connected_gene': 'ZHX3', 'score': 0.28}, {'connected_gene': 'PIR61683', 'score': 0.18}]
chr20 GH20I041218 41218143 41219094 0.4 [{'connected_gene': 'LPIN3', 'score': 14.93}, {'connected_gene': 'PIR61683', 'score': 0.39}, {'connected_gene': 'RN7SL615P', 'score': 0.19}, {'connected_gene': 'GC20M041291', 'score': 0.19}, {'connected_gene': 'ZHX3', 'score': 0.15}]
chr20 GH20I041212 41212331 41215263 0.6 [{'connected_gene': 'LPIN3', 'score': 18.81}, {'connected_gene': 'PLCG1-AS1', 'score': 10.57}, {'connected_gene': 'PLCG1', 'score': 10.57}, {'connected_gene': 'EMILIN3', 'score': 10.35}, {'connected_gene': 'ZHX3', 'score': 10.3}, {'connected_gene': 'PIR61683', 'score': 0.44}, {'connected_gene': 'RN7SL615P', 'score': 0.18}, {'connected_gene': 'GC20M041291', 'score': 0.18}]
chr20 GH20I041171 41171646 41179509 1.18 [{'connected_gene': 'LPIN3', 'score': 17.62}, {'connected_gene': 'PLCG1-AS1', 'score': 11.79}, {'connected_gene': 'PLCG1', 'score': 11.79}, {'connected_gene': 'EMILIN3', 'score': 11.48}, {'connected_gene': 'ZHX3', 'score': 10.93}, {'connected_gene': 'PIR61254', 'score': 0.77}, {'connected_gene': 'MIR6871', 'score': 0.44}]
chr20 GH20I041229 41228965 41229763 0.63 [{'connected_gene': 'LPIN3', 'score': 11.28}, {'connected_gene': 'PLCG1-AS1', 'score': 10.63}, {'connected_gene': 'PLCG1', 'score': 10.63}, {'connected_gene': 'EMILIN3', 'score': 10.33}, {'connected_gene': 'PIR61683', 'score': 0.34}, {'connected_gene': 'RN7SL615P', 'score': 0.21}, {'connected_gene': 'GC20M041291', 'score': 0.21}, {'connected_gene': 'ZHX3', 'score': 0.17}]
chr20 GH20I041228 41228490 41228819 0.2 [{'connected_gene': 'LPIN3', 'score': 11.28}, {'connected_gene': 'PLCG1-AS1', 'score': 10.63}, {'connected_gene': 'PLCG1', 'score': 10.63}, {'connected_gene': 'EMILIN3', 'score': 10.33}, {'connected_gene': 'PIR61683', 'score': 0.34}, {'connected_gene': 'RN7SL615P', 'score': 0.21}, {'connected_gene': 'GC20M041291', 'score': 0.21}, {'connected_gene': 'ZHX3', 'score': 0.17}]
chr20 GH20I041226 41226551 41227624 0.31 [{'connected_gene': 'LPIN3', 'score': 28.39}, {'connected_gene': 'PLCG1-AS1', 'score': 10.64}, {'connected_gene': 'PLCG1', 'score': 10.63}, {'connected_gene': 'EMILIN3', 'score': 10.33}, {'connected_gene': 'PIR61683', 'score': 0.34}, {'connected_gene': 'RN7SL615P', 'score': 0.21}, {'connected_gene': 'GC20M041291', 'score': 0.21}, {'connected_gene': 'ZHX3', 'score': 0.16}]
chr20 GH20I041224 41224132 41225074 0.38 [{'connected_gene': 'LPIN3', 'score': 11.27}, {'connected_gene': 'PLCG1-AS1', 'score': 10.64}, {'connected_gene': 'PLCG1', 'score': 10.64}, {'connected_gene': 'EMILIN3', 'score': 10.32}, {'connected_gene': 'PIR61683', 'score': 0.37}, {'connected_gene': 'RN7SL615P', 'score': 0.2}, {'connected_gene': 'GC20M041291', 'score': 0.2}, {'connected_gene': 'ZHX3', 'score': 0.16}]
chr20 GH20I041222 41222944 41223738 0.2 [{'connected_gene': 'LPIN3', 'score': 11.27}, {'connected_gene': 'PLCG1-AS1', 'score': 10.64}, {'connected_gene': 'PLCG1', 'score': 10.64}, {'connected_gene': 'ZHX3', 'score': 10.35}, {'connected_gene': 'EMILIN3', 'score': 10.32}, {'connected_gene': 'PIR61683', 'score': 0.37}, {'connected_gene': 'RN7SL615P', 'score': 0.2}, {'connected_gene': 'GC20M041291', 'score': 0.2}]
chr20 GH20I041237 41237778 41238585 0.31 [{'connected_gene': 'LPIN3', 'score': 11.01}, {'connected_gene': 'PLCG1-AS1', 'score': 10.84}, {'connected_gene': 'PLCG1', 'score': 10.84}, {'connected_gene': 'ZHX3', 'score': 10.71}, {'connected_gene': 'EMILIN3', 'score': 10.6}, {'connected_gene': 'PIR61683', 'score': 0.29}, {'connected_gene': 'RN7SL615P', 'score': 0.23}, {'connected_gene': 'GC20M041291', 'score': 0.23}]
chr20 GH20I041191 41191640 41193050 0.2 [{'connected_gene': 'LPIN3', 'score': 14.07}, {'connected_gene': 'PLCG1-AS1', 'score': 10.78}, {'connected_gene': 'PLCG1', 'score': 10.77}, {'connected_gene': 'RPL23AP81', 'score': 0.77}, {'connected_gene': 'GC20M041258', 'score': 0.44}, {'connected_gene': 'PIR47682', 'score': 0.44}, {'connected_gene': 'ZHX3', 'score': 0.13}]
chr20 GH20I041292 41292908 41294524 0.63 [{'connected_gene': 'ZHX3', 'score': 11.74}, {'connected_gene': 'LPIN3', 'score': 11.13}, {'connected_gene': 'EMILIN3', 'score': 10.27}, {'connected_gene': 'PLCG1-AS1', 'score': 10.18}, {'connected_gene': 'PLCG1', 'score': 10.18}, {'connected_gene': 'RN7SL615P', 'score': 0.77}, {'connected_gene': 'GC20M041291', 'score': 0.77}]
chr20 GH20I041300 41300061 41300210 0.7 [{'connected_gene': 'ZHX3', 'score': 550.37}, {'connected_gene': 'LPIN3', 'score': 11.25}, {'connected_gene': 'TOP1', 'score': 9.83}, {'connected_gene': 'RN7SL615P', 'score': 0.44}, {'connected_gene': 'GC20M041291', 'score': 0.44}]
chr20 GH20I041313 41313939 41319868 1.75 [{'connected_gene': 'ZHX3', 'score': 550.77}, {'connected_gene': 'PLCG1', 'score': 30.65}, {'connected_gene': 'CHD6', 'score': 22.56}, {'connected_gene': 'LPIN3', 'score': 20.36}, {'connected_gene': 'PLCG1-AS1', 'score': 10.21}, {'connected_gene': 'TOP1', 'score': 10.03}, {'connected_gene': 'RN7SL615P', 'score': 0.31}, {'connected_gene': 'GC20M041291', 'score': 0.31}]
chr20 GH20I041221 41221671 41221925 0.4 [{'connected_gene': 'ZHX3', 'score': 10.63}, {'connected_gene': 'PIR61683', 'score': 0.37}, {'connected_gene': 'RN7SL615P', 'score': 0.2}, {'connected_gene': 'GC20M041291', 'score': 0.2}]
chr20 GH20I040489 40489561 40490862 0.83 [{'connected_gene': 'ZHX3', 'score': 4.72}, {'connected_gene': 'LOC105372618', 'score': 0.34}, {'connected_gene': 'LOC102724968', 'score': 0.13}]
chr20 GH20I041286 41286650 41288291 0.54 [{'connected_gene': 'ZHX3', 'score': 11.99}, {'connected_gene': 'PLCG1-AS1', 'score': 11.1}, {'connected_gene': 'PLCG1', 'score': 11.1}, {'connected_gene': 'EMILIN3', 'score': 10.65}, {'connected_gene': 'LPIN3', 'score': 6.38}, {'connected_gene': 'RN7SL615P', 'score': 0.77}, {'connected_gene': 'GC20M041291', 'score': 0.77}, {'connected_gene': 'PIR61683', 'score': 0.18}]
chr20 GH20I041274 41274980 41277183 0.86 [{'connected_gene': 'RN7SL615P', 'score': 0.39}, {'connected_gene': 'GC20M041291', 'score': 0.39}, {'connected_gene': 'ZHX3', 'score': 0.26}, {'connected_gene': 'PIR61683', 'score': 0.19}]
chr20 GH20I041170 41170807 41171131 0.2 [{'connected_gene': 'MIR6871', 'score': 550.77}, {'connected_gene': 'PLCG1-AS1', 'score': 11.81}, {'connected_gene': 'PLCG1', 'score': 11.81}, {'connected_gene': 'LPIN3', 'score': 11.52}, {'connected_gene': 'EMILIN3', 'score': 11.48}, {'connected_gene': 'ZHX3', 'score': 10.93}, {'connected_gene': 'PIR61254', 'score': 0.44}]
chr20 GH20I041200 41200921 41201070 0.4 [{'connected_gene': 'PLCG1-AS1', 'score': 10.4}, {'connected_gene': 'PLCG1', 'score': 10.4}, {'connected_gene': 'PIR61683', 'score': 0.77}, {'connected_gene': 'ENSG00000272407', 'score': 0.77}, {'connected_gene': 'ZHX3', 'score': 0.13}]
chr20 GH20I041197 41197958 41198305 0.24 [{'connected_gene': 'RPL23AP81', 'score': 550.77}, {'connected_gene': 'ENSG00000272407', 'score': 550.77}, {'connected_gene': 'LPIN3', 'score': 17.43}, {'connected_gene': 'PLCG1', 'score': 10.4}, {'connected_gene': 'PLCG1-AS1', 'score': 10.4}, {'connected_gene': 'CHD6', 'score': 1.25}, {'connected_gene': 'PIR61683', 'score': 0.44}, {'connected_gene': 'ZHX3', 'score': 0.13}]
chr20 GH20I041328 41328513 41330896 1.59 [{'connected_gene': 'ADI1P1', 'score': 550.77}, {'connected_gene': 'LPIN3', 'score': 14.9}, {'connected_gene': 'CHD6', 'score': 12.0}, {'connected_gene': 'ZHX3', 'score': 0.39}]
chr20 GH20I041183 41183148 41186895 0.38 [{'connected_gene': 'PIR57021', 'score': 550.77}, {'connected_gene': 'GC20M041258', 'score': 550.77}, {'connected_gene': 'PIR47682', 'score': 550.77}, {'connected_gene': 'PIR41187', 'score': 550.77}, {'connected_gene': 'LPIN3', 'score': 23.52}, {'connected_gene': 'EMILIN3', 'score': 16.35}, {'connected_gene': 'PLCG1', 'score': 11.37}, {'connected_gene': 'PLCG1-AS1', 'score': 11.37}, {'connected_gene': 'ZHX3', 'score': 0.12}]
chr20 GH20I041179 41179834 41183093 0.43 [{'connected_gene': 'PIR57021', 'score': 550.77}, {'connected_gene': 'PIR55574', 'score': 550.77}, {'connected_gene': 'PIR44752', 'score': 550.77}, {'connected_gene': 'PIR43920', 'score': 550.77}, {'connected_gene': 'PIR42334', 'score': 550.77}, {'connected_gene': 'GC20M041260', 'score': 550.77}, {'connected_gene': 'PIR40270', 'score': 550.77}, {'connected_gene': 'PIR56631', 'score': 550.77}, {'connected_gene': 'PIR47071', 'score': 550.77}, {'connected_gene': 'PIR33260', 'score': 550.77}, {'connected_gene': 'PIR60798', 'score': 550.77}, {'connected_gene': 'GC20M041249', 'score': 550.77}, {'connected_gene': 'PIR34265', 'score': 550.77}, {'connected_gene': 'PIR44484', 'score': 550.77}, {'connected_gene': 'PIR41187', 'score': 550.77}, {'connected_gene': 'GC20M041256', 'score': 550.77}, {'connected_gene': 'GC20M041255', 'score': 550.77}, {'connected_gene': 'LPIN3', 'score': 24.91}, {'connected_gene': 'PLCG1', 'score': 11.77}, {'connected_gene': 'PLCG1-AS1', 'score': 11.77}, {'connected_gene': 'EMILIN3', 'score': 11.48}, {'connected_gene': 'ZHX3', 'score': 10.94}]
chr20 GH20I041217 41217484 41218078 0.31 [{'connected_gene': 'PIR61683', 'score': 0.39}, {'connected_gene': 'RN7SL615P', 'score': 0.19}, {'connected_gene': 'GC20M041291', 'score': 0.19}, {'connected_gene': 'ZHX3', 'score': 0.15}]
chr20 GH20I041244 41244350 41246159 0.99 [{'connected_gene': 'PIR61683', 'score': 0.26}, {'connected_gene': 'RN7SL615P', 'score': 0.25}, {'connected_gene': 'GC20M041291', 'score': 0.25}, {'connected_gene': 'ZHX3', 'score': 0.19}]
chr20 GH20I041205 41205598 41205941 0.2 [{'connected_gene': 'PIR61683', 'score': 550.77}, {'connected_gene': 'RN7SL615P', 'score': 0.18}, {'connected_gene': 'GC20M041291', 'score': 0.18}, {'connected_gene': 'ZHX3', 'score': 0.14}]