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
ENST00000332312 [[39988605, 39991694], [39992277, 39992501], [39993674, 39993797], [39995107, 39995467]] [[39989907, 39991694], [39992277, 39992501], [39993674, 39993797], [39995107, 39995274]]
NM_052846 [[39988605, 39991694], [39992277, 39992501], [39993674, 39993797], [39995107, 39995498]] [[39989907, 39991694], [39992277, 39992501], [39993674, 39993797], [39995107, 39995274]]
Promoter
Chrom Start End Description
chr20 39995445 39995465 CAGE_peak_1_at_EMILIN3_5end
chr20 39995468 39995482 CAGE_peak_2_at_EMILIN3_5end
chr20 39995484 39995495 CAGE_peak_3_at_EMILIN3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr20 GH20I041475 41475209 41477200 1.09 [{'connected_gene': 'EMILIN3', 'score': 10.12}, {'connected_gene': 'LPIN3', 'score': 4.8}, {'connected_gene': 'ENSG00000235088', 'score': 0.39}, {'connected_gene': 'ENSG00000273951', 'score': 0.39}, {'connected_gene': 'CHD6', 'score': 0.11}]
chr20 GH20I041437 41437536 41438610 0.2 [{'connected_gene': 'EMILIN3', 'score': 10.83}, {'connected_gene': 'LPIN3', 'score': 4.56}, {'connected_gene': 'ENSG00000235088', 'score': 0.34}, {'connected_gene': 'LOC100419859', 'score': 0.22}, {'connected_gene': 'CHD6', 'score': 0.09}]
chr20 GH20I041425 41424369 41426259 0.88 [{'connected_gene': 'EMILIN3', 'score': 11.65}, {'connected_gene': 'LPIN3', 'score': 4.58}, {'connected_gene': 'ENSG00000235088', 'score': 0.28}, {'connected_gene': 'LOC100419859', 'score': 0.26}, {'connected_gene': 'CHD6', 'score': 0.08}]
chr20 GH20I041427 41427413 41429216 0.82 [{'connected_gene': 'EMILIN3', 'score': 11.02}, {'connected_gene': 'LPIN3', 'score': 4.57}, {'connected_gene': 'ENSG00000235088', 'score': 0.29}, {'connected_gene': 'LOC100419859', 'score': 0.25}, {'connected_gene': 'CHD6', 'score': 0.08}]
chr20 GH20I041395 41395104 41396806 0.76 [{'connected_gene': 'EMILIN3', 'score': 22.0}, {'connected_gene': 'LPIN3', 'score': 15.97}, {'connected_gene': 'LOC100419859', 'score': 0.39}, {'connected_gene': 'ENSG00000235088', 'score': 0.2}]
chr20 GH20I041408 41408802 41409271 0.31 [{'connected_gene': 'EMILIN3', 'score': 10.92}, {'connected_gene': 'LOC100419859', 'score': 0.31}, {'connected_gene': 'ENSG00000235088', 'score': 0.23}, {'connected_gene': 'CHD6', 'score': 0.08}]
chr20 GH20I041410 41410815 41412612 0.46 [{'connected_gene': 'EMILIN3', 'score': 11.71}, {'connected_gene': 'LOC100419859', 'score': 0.31}, {'connected_gene': 'ENSG00000235088', 'score': 0.23}, {'connected_gene': 'CHD6', 'score': 0.08}]
chr20 GH20I041436 41436430 41437474 0.38 [{'connected_gene': 'EMILIN3', 'score': 10.83}, {'connected_gene': 'ENSG00000235088', 'score': 0.34}, {'connected_gene': 'LOC100419859', 'score': 0.23}, {'connected_gene': 'CHD6', 'score': 0.09}]
chr20 GH20I041452 41452577 41454636 0.49 [{'connected_gene': 'EMILIN3', 'score': 10.58}, {'connected_gene': 'ENSG00000235088', 'score': 0.44}, {'connected_gene': 'LOC100419859', 'score': 0.19}, {'connected_gene': 'CHD6', 'score': 0.1}]
chr20 GH20I041409 41408541 41408710 0.38 [{'connected_gene': 'EMILIN3', 'score': 10.92}, {'connected_gene': 'LOC100419859', 'score': 0.31}, {'connected_gene': 'ENSG00000235088', 'score': 0.23}, {'connected_gene': 'CHD6', 'score': 0.08}]
chr20 GH20I041424 41424183 41424290 0.56 [{'connected_gene': 'EMILIN3', 'score': 11.65}, {'connected_gene': 'ENSG00000235088', 'score': 0.28}, {'connected_gene': 'LOC100419859', 'score': 0.26}, {'connected_gene': 'CHD6', 'score': 0.08}]
chr20 GH20I041386 41386440 41388181 0.56 [{'connected_gene': 'EMILIN3', 'score': 8.28}, {'connected_gene': 'LOC100419859', 'score': 0.77}, {'connected_gene': 'ENSG00000235088', 'score': 0.19}]
chr20 GH20I041392 41392043 41394271 0.76 [{'connected_gene': 'EMILIN3', 'score': 8.22}, {'connected_gene': 'LOC100419859', 'score': 0.39}, {'connected_gene': 'ENSG00000235088', 'score': 0.2}]
chr20 GH20I041581 41581373 41581734 0.22 [{'connected_gene': 'CHD6', 'score': 11.3}, {'connected_gene': 'EMILIN3', 'score': 5.31}, {'connected_gene': 'RPL12P11', 'score': 0.29}]
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 GH20I041397 41397958 41399830 0.57 [{'connected_gene': 'LPIN3', 'score': 15.92}, {'connected_gene': 'EMILIN3', 'score': 12.7}, {'connected_gene': 'LOC100419859', 'score': 0.37}, {'connected_gene': 'ENSG00000235088', 'score': 0.21}]
chr20 GH20I041360 41360639 41362063 0.46 [{'connected_gene': 'LPIN3', 'score': 7.57}, {'connected_gene': 'EMILIN3', 'score': 5.83}]
chr20 GH20I041339 41339427 41343707 2.05 [{'connected_gene': 'LPIN3', 'score': 569.74}, {'connected_gene': 'EMILIN3', 'score': 0.31}]
chr20 GH20I041347 41347941 41348090 0.2 [{'connected_gene': 'LPIN3', 'score': 0.44}, {'connected_gene': 'EMILIN3', 'score': 0.37}]
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 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 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 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 GH20I041001 41001403 41010474 1.81 [{'connected_gene': 'LOC105372621', 'score': 550.77}, {'connected_gene': 'CHD6', 'score': 30.75}, {'connected_gene': 'PLCG1', 'score': 20.08}, {'connected_gene': 'MAFB', 'score': 18.53}, {'connected_gene': 'TOP1', 'score': 17.45}, {'connected_gene': 'PLCG1-AS1', 'score': 10.25}, {'connected_gene': 'LPIN3', 'score': 6.05}, {'connected_gene': 'EMILIN3', 'score': 4.49}, {'connected_gene': 'GC20M041019', 'score': 0.39}, {'connected_gene': 'LOC100128988', 'score': 0.31}]
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 GH20I041382 41382861 41383625 0.2 [{'connected_gene': 'LOC100419859', 'score': 550.77}, {'connected_gene': 'LPIN3', 'score': 6.47}, {'connected_gene': 'EMILIN3', 'score': 5.56}, {'connected_gene': 'ENSG00000235088', 'score': 0.18}]
chr20 GH20I041367 41366808 41366867 0.73 [{'connected_gene': 'GC20P041372', 'score': 550.77}, {'connected_gene': 'EMILIN3', 'score': 550.77}, {'connected_gene': 'LPIN3', 'score': 0.31}]
chr20 GH20I041366 41366400 41366801 0.76 [{'connected_gene': 'GC20P041372', 'score': 550.77}, {'connected_gene': 'EMILIN3', 'score': 550.77}, {'connected_gene': 'LPIN3', 'score': 0.31}]
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}]

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