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
ENST00000371077 [[64669309, 64669799], [64671321, 64671403], [64672446, 64672539], [64676424, 64676522], [64680497, 64680615], [64686541, 64686590], [64698243, 64698332], [64707334, 64707416], [64726285, 64726377]] [[64669733, 64669799], [64671321, 64671403], [64672446, 64672539], [64676424, 64676522], [64680497, 64680615], [64686541, 64686590], [64698243, 64698332], [64707334, 64707416], [64726285, 64726377]]
ENST00000371076 [[64669489, 64669799], [64671321, 64671403], [64672446, 64672539], [64676424, 64676522], [64680497, 64680615], [64686541, 64686590], [64698243, 64698332], [64707334, 64707416], [64709812, 64710027]] [[64669733, 64669799], [64671321, 64671403], [64672446, 64672539], [64676424, 64676522], [64680497, 64680615], [64686541, 64686590], [64698243, 64698332], [64707334, 64707416], [64709812, 64709816]]
ENST00000608020 [[64680497, 64680615], [64686541, 64686590], [64698243, 64698332], [64707334, 64707416], [64726285, 64726377], [64732706, 64733051]] [[64680497, 64680615], [64686541, 64686590], [64698243, 64698332], [64707334, 64707416], [64726285, 64726377], [64732706, 64732891]]
ENST00000464349 [[64681135, 64681208], [64686541, 64686590], [64698243, 64698332], [64707334, 64707416], [64709812, 64710023]] None
ENST00000608956 [[64686546, 64686590], [64707334, 64707416], [64726285, 64726377], [64732706, 64732932]] [[64686546, 64686590], [64707334, 64707416], [64726285, 64726377], [64732706, 64732891]]
NM_152489 [[64669300, 64669799], [64671321, 64671403], [64672446, 64672539], [64676424, 64676522], [64680497, 64680615], [64686541, 64686590], [64698243, 64698332], [64707334, 64707416], [64709812, 64711957]] [[64669733, 64669799], [64671321, 64671403], [64672446, 64672539], [64676424, 64676522], [64680497, 64680615], [64686541, 64686590], [64698243, 64698332], [64707334, 64707416], [64709812, 64709816]]
Promoter
Chrom Start End Description
chr1 64669294 64669320 CAGE_peak_1_at_UBE2U_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I064037 64037814 64040847 1.57 [{'connected_gene': 'EFCAB7', 'score': 12.55}, {'connected_gene': 'ITGB3BP', 'score': 12.39}, {'connected_gene': 'DLEU2L', 'score': 9.77}, {'connected_gene': 'ROR1', 'score': 1.66}, {'connected_gene': 'UBE2U', 'score': 1.41}, {'connected_gene': 'LOC105378772', 'score': 0.77}, {'connected_gene': 'GC01P064043', 'score': 0.77}]
chr1 GH01I064222 64222859 64224226 0.8 [{'connected_gene': 'EFCAB7', 'score': 18.01}, {'connected_gene': 'ITGB3BP', 'score': 11.13}, {'connected_gene': 'UBE2U', 'score': 4.77}, {'connected_gene': 'GC01M064169', 'score': 0.37}, {'connected_gene': 'LOC105378773', 'score': 0.31}]
chr1 GH01I063746 63745285 63748064 1.07 [{'connected_gene': 'DLEU2L', 'score': 12.38}, {'connected_gene': 'ROR1', 'score': 12.02}, {'connected_gene': 'ITGB3BP', 'score': 10.52}, {'connected_gene': 'UBE2U', 'score': 10.05}, {'connected_gene': 'GC01M063731', 'score': 0.77}, {'connected_gene': 'GC01P063754', 'score': 0.44}]
chr1 GH01I063793 63793775 63796003 1 [{'connected_gene': 'ROR1', 'score': 12.0}, {'connected_gene': 'UBE2U', 'score': 10.5}, {'connected_gene': 'GC01M063770', 'score': 0.77}, {'connected_gene': 'GC01P063805', 'score': 0.39}]
chr1 GH01I064342 64342460 64345521 1.1 [{'connected_gene': 'ITGB3BP', 'score': 33.56}, {'connected_gene': 'EFCAB7', 'score': 20.72}, {'connected_gene': 'LINC01359', 'score': 13.3}, {'connected_gene': 'ALG6', 'score': 10.6}, {'connected_gene': 'UBE2U', 'score': 4.77}, {'connected_gene': 'GC01P064331', 'score': 0.39}, {'connected_gene': 'LOC105378774', 'score': 0.31}]
chr1 GH01I063661 63661041 63664558 1.09 [{'connected_gene': 'ITGB3BP', 'score': 15.93}, {'connected_gene': 'UBE2U', 'score': 10.24}, {'connected_gene': 'DOCK7', 'score': 9.76}, {'connected_gene': 'ROR1', 'score': 5.85}, {'connected_gene': 'LOC105378771', 'score': 0.44}, {'connected_gene': 'RN7SL130P', 'score': 0.44}]
chr1 GH01I064183 64183214 64184707 1.07 [{'connected_gene': 'UBE2U', 'score': 23.56}, {'connected_gene': 'ITGB3BP', 'score': 20.32}, {'connected_gene': 'EFCAB7', 'score': 12.1}, {'connected_gene': 'JAK1', 'score': 11.76}, {'connected_gene': 'LINC01359', 'score': 11.0}, {'connected_gene': 'SLC2A3P2', 'score': 10.73}, {'connected_gene': 'GC01P064179', 'score': 0.77}, {'connected_gene': 'GC01M064169', 'score': 0.22}]
chr1 GH01I064245 64245401 64246000 0.79 [{'connected_gene': 'UBE2U', 'score': 11.02}, {'connected_gene': 'ITGB3BP', 'score': 10.47}, {'connected_gene': 'PGM1', 'score': 10.47}, {'connected_gene': 'GC01M064169', 'score': 0.44}, {'connected_gene': 'GC01M064282', 'score': 0.28}]
chr1 GH01I064243 64243201 64244166 0.76 [{'connected_gene': 'UBE2U', 'score': 15.64}, {'connected_gene': 'ITGB3BP', 'score': 10.47}, {'connected_gene': 'GC01M064169', 'score': 0.77}, {'connected_gene': 'GC01M064282', 'score': 0.26}]
chr1 GH01I064211 64211481 64212656 0.2 [{'connected_gene': 'UBE2U', 'score': 7.28}, {'connected_gene': 'LOC105378773', 'score': 0.37}, {'connected_gene': 'GC01M064169', 'score': 0.31}]
chr1 GH01I064231 64231278 64231327 0.75 [{'connected_gene': 'UBE2U', 'score': 12.26}, {'connected_gene': 'GC01M064169', 'score': 0.44}, {'connected_gene': 'LOC105378773', 'score': 0.28}]
chr1 GH01I064203 64203659 64203718 0.5 [{'connected_gene': 'UBE2U', 'score': 550.37}, {'connected_gene': 'LOC105378773', 'score': 0.44}, {'connected_gene': 'GC01M064169', 'score': 0.28}]
chr1 GH01I063860 63860917 63861632 0.38 [{'connected_gene': 'UBE2U', 'score': 9.71}, {'connected_gene': 'GC01M063862', 'score': 0.44}, {'connected_gene': 'CFL1P3', 'score': 0.37}, {'connected_gene': 'ROR1', 'score': 0.17}]
chr1 GH01I063859 63859601 63859800 0.2 [{'connected_gene': 'UBE2U', 'score': 9.71}, {'connected_gene': 'GC01M063862', 'score': 0.44}, {'connected_gene': 'CFL1P3', 'score': 0.37}, {'connected_gene': 'ROR1', 'score': 0.17}]
chr1 GH01I064262 64262792 64264156 0.54 [{'connected_gene': 'UBE2U', 'score': 4.78}, {'connected_gene': 'GC01M064282', 'score': 0.34}, {'connected_gene': 'GC01M064169', 'score': 0.34}]
chr1 GH01I064269 64269258 64269407 0.71 [{'connected_gene': 'UBE2U', 'score': 15.4}, {'connected_gene': 'GC01M064282', 'score': 0.37}, {'connected_gene': 'GC01M064169', 'score': 0.29}]
chr1 GH01I064186 64186355 64187146 0.52 [{'connected_gene': 'UBE2U', 'score': 573.87}, {'connected_gene': 'GC01P064179', 'score': 0.44}, {'connected_gene': 'GC01M064169', 'score': 0.23}]
chr1 GH01I064194 64194972 64195725 0.49 [{'connected_gene': 'LOC105378773', 'score': 550.77}, {'connected_gene': 'UBE2U', 'score': 12.08}, {'connected_gene': 'GC01M064169', 'score': 0.26}]
chr1 GH01I064035 64035094 64035504 0.28 [{'connected_gene': 'LOC105378772', 'score': 550.77}, {'connected_gene': 'UBE2U', 'score': 63.33}, {'connected_gene': 'ROR1', 'score': 10.22}, {'connected_gene': 'GC01P064043', 'score': 0.44}]
chr1 GH01I064171 64171120 64173943 1.13 [{'connected_gene': 'ROR1-AS1', 'score': 550.77}, {'connected_gene': 'EFCAB7', 'score': 38.21}, {'connected_gene': 'DLEU2L', 'score': 32.45}, {'connected_gene': 'ITGB3BP', 'score': 31.42}, {'connected_gene': 'UBE2U', 'score': 15.42}, {'connected_gene': 'ENSG00000272506', 'score': 13.21}, {'connected_gene': 'LINC01359', 'score': 10.67}, {'connected_gene': 'ALG6', 'score': 10.6}, {'connected_gene': 'GC01P064179', 'score': 0.44}, {'connected_gene': 'GC01M064169', 'score': 0.2}, {'connected_gene': 'ROR1', 'score': 0.05}]
chr1 GH01I064136 64136370 64139506 0.82 [{'connected_gene': 'ROR1-AS1', 'score': 11.12}, {'connected_gene': 'UBE2U', 'score': 10.98}, {'connected_gene': 'ROR1', 'score': 10.68}, {'connected_gene': 'GC01P064135', 'score': 0.77}, {'connected_gene': 'GC01M064149', 'score': 0.31}]
chr1 GH01I064165 64164278 64164487 0.54 [{'connected_gene': 'GC01M064149', 'score': 550.77}, {'connected_gene': 'ITGB3BP', 'score': 11.14}, {'connected_gene': 'LINC01359', 'score': 10.67}, {'connected_gene': 'UBE2U', 'score': 5.02}, {'connected_gene': 'ROR1-AS1', 'score': 0.44}, {'connected_gene': 'ROR1', 'score': 0.05}]
chr1 GH01I064132 64132718 64134054 0.43 [{'connected_gene': 'GC01P064135', 'score': 550.77}, {'connected_gene': 'UBE2U', 'score': 10.81}, {'connected_gene': 'ROR1', 'score': 10.48}, {'connected_gene': 'ROR1-AS1', 'score': 0.28}, {'connected_gene': 'GC01M064067', 'score': 0.2}, {'connected_gene': 'ENSG00000200508', 'score': 0.2}]
chr1 GH01I064163 64163499 64164042 0.46 [{'connected_gene': 'GC01M064149', 'score': 550.77}, {'connected_gene': 'UBE2U', 'score': 4.95}, {'connected_gene': 'ROR1-AS1', 'score': 0.44}, {'connected_gene': 'ROR1', 'score': 0.05}]
chr1 GH01I064160 64160945 64162061 0.2 [{'connected_gene': 'GC01M064149', 'score': 550.77}, {'connected_gene': 'UBE2U', 'score': 26.03}, {'connected_gene': 'ROR1-AS1', 'score': 0.44}, {'connected_gene': 'GC01P064135', 'score': 0.31}, {'connected_gene': 'ROR1', 'score': 0.05}]