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
ENST00000439456 [[180404, 180726], [225933, 226068], [255828, 255988], [282777, 282855], [283524, 283591]] [[225952, 226068], [255828, 255988], [282777, 282855], [283524, 283591]]
ENST00000381602 [[180423, 180832], [225933, 226068], [255828, 255988], [267134, 267296], [282777, 282855], [283524, 283617], [285377, 285465], [285995, 286051], [286832, 286910], [287960, 288079], [292705, 292913], [293337, 293406], [294275, 294548], [294842, 295199]] [[255832, 255988], [267134, 267296], [282777, 282855], [283524, 283617], [285377, 285465], [285995, 286051], [286832, 286910], [287960, 288079], [292705, 292913], [293337, 293406], [294275, 294548], [294842, 295049]]
ENST00000397962 [[180423, 180832], [225933, 226068], [255828, 255988], [267134, 267296], [282777, 282855], [283524, 283617], [285377, 285465], [285995, 286051], [286832, 286910], [287960, 288079], [292705, 292913], [293337, 293406], [294275, 294548], [294842, 295028], [298287, 300566]] [[225952, 226068], [255828, 255988], [267134, 267296], [282777, 282855], [283524, 283617], [285377, 285465], [285995, 286051], [286832, 286910], [287960, 288079], [292705, 292913], [293337, 293406], [294275, 294548], [294842, 295028], [298287, 298410]]
ENST00000309776 [[180423, 180832], [225933, 226068], [255828, 255988], [267134, 267296], [282777, 282855], [283524, 283617], [285377, 285465], [285995, 286051], [286832, 286910], [287960, 288079], [292705, 292913], [293337, 293406], [294275, 294548], [294842, 295028], [298287, 300566]] [[255832, 255988], [267134, 267296], [282777, 282855], [283524, 283617], [285377, 285465], [285995, 286051], [286832, 286910], [287960, 288079], [292705, 292913], [293337, 293406], [294275, 294548], [294842, 295028], [298287, 298410]]
ENST00000509513 [[180642, 180832], [225933, 226068], [255828, 255988], [267134, 267296], [282777, 282855], [283524, 283617], [285377, 285465], [285998, 286051], [286832, 286910], [287960, 288079], [292705, 292913], [293337, 293406], [294275, 294548], [294842, 295201]] [[225952, 226068], [255828, 255988], [267134, 267296], [282777, 282855], [283524, 283617], [285377, 285465], [285998, 286051], [286832, 286910], [287960, 288079], [292705, 292913], [293337, 293406], [294275, 294548], [294842, 295049]]
ENST00000397959 [[180741, 180832], [225933, 226068], [255828, 255988], [282777, 282855], [285377, 285465], [285995, 286051], [286832, 286910], [287960, 288079], [292705, 292913], [293337, 293406], [294275, 294548], [294842, 295028], [298287, 298520]] [[225952, 226068], [255828, 255988], [282777, 282855], [285377, 285465], [285995, 286051], [286832, 286910], [287960, 288079], [292705, 292913], [293337, 293406], [294275, 294548], [294842, 295028], [298287, 298410]]
ENST00000381591 [[181008, 181242], [225933, 226068], [255828, 255988], [267134, 267296], [282777, 282855], [283524, 283617], [285377, 285465], [285995, 286051], [286832, 286910], [287960, 288079], [292705, 292913], [293337, 293406], [294275, 294548], [294842, 295028], [298287, 300577]] [[225952, 226068], [255828, 255988], [267134, 267296], [282777, 282855], [283524, 283617], [285377, 285465], [285995, 286051], [286832, 286910], [287960, 288079], [292705, 292913], [293337, 293406], [294275, 294548], [294842, 295028], [298287, 298410]]
ENST00000403354 [[181423, 181499], [225933, 226068], [255828, 255988], [282777, 282855], [283524, 283617], [285377, 285465], [285995, 286051], [287960, 288079], [292705, 292913], [293337, 293406], [294275, 294548], [294842, 295028], [298287, 298410]] [[225952, 226068], [255828, 255988], [282777, 282855], [283524, 283617], [285377, 285465], [285995, 286051], [287960, 288079], [292705, 292913], [293337, 293406], [294275, 294548], [294842, 295028], [298287, 298410]]
ENST00000381607 [[181423, 181499], [225933, 226068], [255828, 255988], [282777, 282855], [283524, 283617], [285377, 285465], [285995, 286051], [286832, 286910], [287960, 288079], [292705, 292913], [293337, 293406], [294275, 294548], [294842, 295028], [298287, 300566]] [[255832, 255988], [282777, 282855], [283524, 283617], [285377, 285465], [285995, 286051], [286832, 286910], [287960, 288079], [292705, 292913], [293337, 293406], [294275, 294548], [294842, 295028], [298287, 298410]]
ENST00000402736 [[181448, 181499], [225933, 226068], [255828, 255988], [267134, 267296], [282777, 282855], [285377, 285465], [285995, 286051], [286832, 286910], [287960, 288079], [292705, 292913], [293337, 293406], [294275, 294548], [294842, 295028], [298287, 300574]] [[225952, 226068], [255828, 255988], [267134, 267296], [282777, 282855], [285377, 285465], [285995, 286051], [286832, 286910], [287960, 288079], [292705, 292913], [293337, 293406], [294275, 294548], [294842, 295028], [298287, 298410]]
ENST00000602682 [[225929, 226068], [255828, 255988], [282777, 282855], [285377, 285465], [285995, 286051], [286832, 286910], [287960, 288079], [292705, 292913], [293337, 293406], [294275, 294548], [294842, 295028], [298287, 298520]] [[225952, 226068], [255828, 255988], [282777, 282855], [285377, 285465], [285995, 286051], [286832, 286910], [287960, 288079], [292705, 292913], [293337, 293406], [294275, 294548], [294842, 295028], [298287, 298410]]
ENST00000381604 [[225932, 226068], [243850, 243945], [255828, 255988], [267134, 267296], [282777, 282855], [283524, 283617], [285377, 285465], [285995, 286051], [286832, 286910], [287960, 288079], [292705, 292913], [293337, 293406], [294275, 294548], [294842, 295028], [298287, 299169]] [[255832, 255988], [267134, 267296], [282777, 282855], [283524, 283617], [285377, 285465], [285995, 286051], [286832, 286910], [287960, 288079], [292705, 292913], [293337, 293406], [294275, 294548], [294842, 295028], [298287, 298410]]
ENST00000397955 [[225933, 226068], [255828, 255988], [264394, 264439], [267134, 267296], [282777, 282855], [283524, 283603]] [[225952, 226068], [255828, 255988], [264394, 264439], [267134, 267296], [282777, 282855], [283524, 283603]]
ENST00000381584 [[225933, 226068], [243850, 243945], [255828, 255988], [267134, 267296], [282777, 282855], [283524, 283617], [285377, 285465], [285995, 286051], [286832, 286910], [287960, 288079], [292705, 292913], [293337, 293406], [294275, 294548], [294842, 295028], [298287, 299196]] [[243880, 243945], [255828, 255988], [267134, 267296], [282777, 282855], [283524, 283617], [285377, 285465], [285995, 286051], [286832, 286910], [287960, 288079], [292705, 292913], [293337, 293406], [294275, 294548], [294842, 295028], [298287, 298410]]
ENST00000558098 [[225952, 226068], [255828, 255988], [267134, 267296], [282777, 282855], [283524, 283617], [285377, 285465], [285995, 286051], [286832, 286910], [287960, 288079], [292705, 292913], [293337, 293406], [294275, 294548], [294842, 295201]] [[225952, 226068], [255828, 255988], [267134, 267296], [282777, 282855], [283524, 283617], [285377, 285465], [285995, 286051], [286832, 286910], [287960, 288079], [292705, 292913], [293337, 293406], [294275, 294548], [294842, 295049]]
ENST00000545619 [[255832, 255988], [282777, 282855], [283524, 283617], [285377, 285465], [285995, 286051], [287960, 288079], [292705, 292913], [293337, 293406], [294275, 294548], [294842, 295028], [298287, 298410]] [[255832, 255988], [282777, 282855], [283524, 283617], [285377, 285465], [285995, 286051], [287960, 288079], [292705, 292913], [293337, 293406], [294275, 294548], [294842, 295028], [298287, 298410]]
ENST00000535374 [[255890, 255988], [282777, 282855], [283524, 283617], [286832, 286910], [287960, 288079], [292705, 292913], [293337, 293406], [294275, 294548], [294842, 295028], [298287, 298512]] [[282810, 282855], [283524, 283617], [286832, 286910], [287960, 288079], [292705, 292913], [293337, 293406], [294275, 294548], [294842, 295028], [298287, 298410]]
ENST00000488275 [[285901, 286051], [286832, 286910], [287960, 288079], [292705, 292939]] None
ENST00000473115 [[290410, 290540], [292705, 292913], [293337, 293406], [294275, 294471]] None
NM_006624 [[180404, 180726], [225933, 226068], [255828, 255988], [267134, 267296], [282777, 282855], [283524, 283617], [285377, 285465], [285995, 286051], [286832, 286910], [287960, 288079], [292705, 292913], [293337, 293406], [294275, 294548], [294842, 295028], [298287, 300577]] [[225952, 226068], [255828, 255988], [267134, 267296], [282777, 282855], [283524, 283617], [285377, 285465], [285995, 286051], [286832, 286910], [287960, 288079], [292705, 292913], [293337, 293406], [294275, 294548], [294842, 295028], [298287, 298410]]
NM_212479 [[180423, 180832], [225933, 226068], [255828, 255988], [267134, 267296], [282777, 282855], [283524, 283617], [285377, 285465], [285998, 286051], [286832, 286910], [287960, 288079], [292705, 292913], [293337, 293406], [294275, 294548], [294842, 295730]] [[225952, 226068], [255828, 255988], [267134, 267296], [282777, 282855], [283524, 283617], [285377, 285465], [285998, 286051], [286832, 286910], [287960, 288079], [292705, 292913], [293337, 293406], [294275, 294548], [294842, 295049]]
NM_001202465 [[180423, 180832], [225933, 226068], [255828, 255988], [282777, 282855], [285377, 285465], [285995, 286051], [286832, 286910], [287960, 288079], [292705, 292913], [293337, 293406], [294275, 294548], [294842, 295028], [298287, 300577]] [[225952, 226068], [255828, 255988], [282777, 282855], [285377, 285465], [285995, 286051], [286832, 286910], [287960, 288079], [292705, 292913], [293337, 293406], [294275, 294548], [294842, 295028], [298287, 298410]]
NM_001202466 [[180423, 180832], [225933, 226068], [255828, 255988], [282777, 282855], [283524, 283617], [285377, 285465], [285998, 286051], [286832, 286910], [287960, 288079], [292705, 292913], [293337, 293406], [294275, 294548], [294842, 295028], [298287, 300577]] [[225952, 226068], [255828, 255988], [282777, 282855], [283524, 283617], [285377, 285465], [285998, 286051], [286832, 286910], [287960, 288079], [292705, 292913], [293337, 293406], [294275, 294548], [294842, 295028], [298287, 298410]]
NM_001330057 [[180423, 180832], [225933, 226068], [243850, 243945], [255828, 255988], [267134, 267296], [282777, 282855], [283524, 283617], [285377, 285465], [285995, 286051], [286832, 286910], [287960, 288079], [292705, 292913], [293337, 293406], [294275, 294548], [294842, 295028], [298287, 300577]] [[243880, 243945], [255828, 255988], [267134, 267296], [282777, 282855], [283524, 283617], [285377, 285465], [285995, 286051], [286832, 286910], [287960, 288079], [292705, 292913], [293337, 293406], [294275, 294548], [294842, 295028], [298287, 298410]]
NM_001202464 [[181423, 181499], [225933, 226068], [255828, 255988], [282777, 282855], [283524, 283617], [285377, 285465], [285995, 286051], [286832, 286910], [287960, 288079], [292705, 292913], [293337, 293406], [294275, 294548], [294842, 295028], [298287, 300577]] [[225952, 226068], [255828, 255988], [282777, 282855], [283524, 283617], [285377, 285465], [285995, 286051], [286832, 286910], [287960, 288079], [292705, 292913], [293337, 293406], [294275, 294548], [294842, 295028], [298287, 298410]]
NM_001202467 [[225933, 226068], [255828, 255988], [282777, 282855], [283524, 283617], [285377, 285465], [285995, 286051], [286832, 286910], [287960, 288079], [292705, 292913], [293337, 293406], [294275, 294548], [294842, 295730]] [[225952, 226068], [255828, 255988], [282777, 282855], [283524, 283617], [285377, 285465], [285995, 286051], [286832, 286910], [287960, 288079], [292705, 292913], [293337, 293406], [294275, 294548], [294842, 295049]]
NM_001202468 [[225933, 226068], [255828, 255988], [267134, 267296], [282777, 282855], [283524, 283617], [285377, 285465], [285995, 286051], [286832, 286910], [287960, 288079], [292705, 292913], [293337, 293406], [294275, 294548], [294842, 295730]] [[225952, 226068], [255828, 255988], [267134, 267296], [282777, 282855], [283524, 283617], [285377, 285465], [285995, 286051], [286832, 286910], [287960, 288079], [292705, 292913], [293337, 293406], [294275, 294548], [294842, 295049]]
Promoter
Chrom Start End Description
chr10 180364 180371 CAGE_peak_22_at_ZMYND11_5end
chr10 180416 180429 CAGE_peak_9_at_ZMYND11_5end
chr10 180713 180764 CAGE_peak_5_at_ZMYND11_5end
chr10 180799 180811 CAGE_peak_10_at_ZMYND11_5end
chr10 180856 180973 CAGE_peak_2_at_ZMYND11_5end
chr10 180987 181004 CAGE_peak_7_at_ZMYND11_5end
chr10 181370 181417 CAGE_peak_1_at_ZMYND11_5end
chr10 181418 181446 CAGE_peak_4_at_ZMYND11_5end
chr10 181453 181472 CAGE_peak_3_at_ZMYND11_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I000087 87035 87733 0.75 [{'connected_gene': 'IL9RP2', 'score': 550.77}, {'connected_gene': 'ZMYND11', 'score': 15.68}, {'connected_gene': 'TUBB8', 'score': 9.71}, {'connected_gene': 'PIR51131', 'score': 0.31}]
chr10 GH10I000076 76002 77000 0.81 [{'connected_gene': 'TUBB8', 'score': 571.31}, {'connected_gene': 'GC10M000074', 'score': 550.77}, {'connected_gene': 'ZMYND11', 'score': 4.69}, {'connected_gene': 'IL9RP2', 'score': 0.44}]
chr10 GH10I000127 127601 128358 0.83 [{'connected_gene': 'TUBB8', 'score': 4.79}, {'connected_gene': 'PIR54862', 'score': 0.44}, {'connected_gene': 'ZMYND11', 'score': 0.44}]
chr10 GH10I000509 509998 511938 1.53 [{'connected_gene': 'GTPBP4', 'score': 10.66}, {'connected_gene': 'DIP2C', 'score': 7.84}, {'connected_gene': 'ZMYND11', 'score': 1.64}, {'connected_gene': 'PIR53292', 'score': 0.34}, {'connected_gene': 'ENSG00000233021', 'score': 0.19}]
chr10 GH10I000983 983379 990178 2.07 [{'connected_gene': 'LARP4B', 'score': 570.59}, {'connected_gene': 'GTPBP4', 'score': 564.93}, {'connected_gene': 'LOC107984285', 'score': 550.77}, {'connected_gene': 'DIP2C', 'score': 14.09}, {'connected_gene': 'ZMYND11', 'score': 12.82}, {'connected_gene': 'LOC101927762', 'score': 11.48}, {'connected_gene': 'WDR37', 'score': 6.32}, {'connected_gene': 'PIR35547', 'score': 0.39}]
chr10 GH10I000454 454481 456200 1.08 [{'connected_gene': 'DIP2C', 'score': 6.41}, {'connected_gene': 'ZMYND11', 'score': 1.26}, {'connected_gene': 'ENSG00000233021', 'score': 0.37}, {'connected_gene': 'PIR53292', 'score': 0.18}]
chr10 GH10I000518 518461 518821 0.42 [{'connected_gene': 'DIP2C', 'score': 10.89}, {'connected_gene': 'ENSG00000233021', 'score': 10.3}, {'connected_gene': 'ZMYND11', 'score': 1.38}, {'connected_gene': 'PIR53292', 'score': 0.37}]
chr10 GH10I000296 296761 298774 1.09 [{'connected_gene': 'LOC107984285', 'score': 19.28}, {'connected_gene': 'ZMYND11', 'score': 13.95}, {'connected_gene': 'DIP2C', 'score': 13.15}, {'connected_gene': 'PIR61626', 'score': 0.77}, {'connected_gene': 'PIR51140', 'score': 0.39}]
chr10 GH10I000088 88421 88570 0.59 [{'connected_gene': 'ZMYND11', 'score': 11.17}, {'connected_gene': 'IL9RP2', 'score': 0.77}, {'connected_gene': 'PIR51131', 'score': 0.31}]
chr10 GH10I000287 287940 289373 0.6 [{'connected_gene': 'ZMYND11', 'score': 9.92}, {'connected_gene': 'PIR61626', 'score': 0.44}, {'connected_gene': 'RNA5SP298', 'score': 0.44}, {'connected_gene': 'DIP2C', 'score': 0.05}]
chr10 GH10I000289 289787 290783 0.4 [{'connected_gene': 'ZMYND11', 'score': 9.92}, {'connected_gene': 'PIR61626', 'score': 0.44}, {'connected_gene': 'RNA5SP298', 'score': 0.44}, {'connected_gene': 'DIP2C', 'score': 0.05}]
chr10 GH10I000286 286805 287663 0.2 [{'connected_gene': 'ZMYND11', 'score': 9.92}, {'connected_gene': 'PIR61626', 'score': 0.44}, {'connected_gene': 'RNA5SP298', 'score': 0.44}, {'connected_gene': 'DIP2C', 'score': 0.05}]
chr10 GH10I000665 665449 666753 1.12 [{'connected_gene': 'LOC105376339', 'score': 550.77}, {'connected_gene': 'DIP2C', 'score': 21.37}, {'connected_gene': 'ZMYND11', 'score': 13.88}, {'connected_gene': 'LOC101930421', 'score': 11.34}, {'connected_gene': 'LOC107984285', 'score': 10.53}, {'connected_gene': 'PRR26', 'score': 0.37}]
chr10 GH10I000385 385700 386068 0.22 [{'connected_gene': 'ENSG00000233021', 'score': 10.62}, {'connected_gene': 'TUBB8', 'score': 1.85}, {'connected_gene': 'DIP2C', 'score': 1.63}, {'connected_gene': 'ZMYND11', 'score': 1.34}, {'connected_gene': 'GC10P000404', 'score': 0.37}, {'connected_gene': 'GC10P000361', 'score': 0.34}]
chr10 GH10I000469 469784 471191 0.65 [{'connected_gene': 'ENSG00000233021', 'score': 11.57}, {'connected_gene': 'TUBB8', 'score': 5.88}, {'connected_gene': 'ZMYND11', 'score': 2.68}, {'connected_gene': 'DIP2C', 'score': 2.26}, {'connected_gene': 'PIR53292', 'score': 0.21}]
chr10 GH10I000632 632693 640743 0.6 [{'connected_gene': 'PIR41309', 'score': 550.77}, {'connected_gene': 'DIP2C', 'score': 23.29}, {'connected_gene': 'ZMYND11', 'score': 11.0}, {'connected_gene': 'TUBB8', 'score': 4.66}, {'connected_gene': 'LOC101930421', 'score': 0.39}]
chr10 GH10I000132 132483 137668 1.96 [{'connected_gene': 'GC10P000136', 'score': 550.77}, {'connected_gene': 'ZMYND11', 'score': 550.77}, {'connected_gene': 'TUBB8', 'score': 7.23}]
chr10 GH10I000921 921306 922612 0.85 [{'connected_gene': 'GC10P000921', 'score': 550.77}, {'connected_gene': 'ZMYND11', 'score': 30.17}, {'connected_gene': 'DIP2C', 'score': 22.02}, {'connected_gene': 'LARP4B', 'score': 12.26}, {'connected_gene': 'GTPBP4', 'score': 11.48}, {'connected_gene': 'LOC107984285', 'score': 9.91}, {'connected_gene': 'LOC101930421', 'score': 9.74}, {'connected_gene': 'LOC101927762', 'score': 0.39}]
chr10 GH10I000253 253390 253625 0.4 [{'connected_gene': 'PIR61472', 'score': 0.34}, {'connected_gene': 'GC10M000206', 'score': 0.26}, {'connected_gene': 'ZMYND11', 'score': 0.13}]
chr10 GH10I000179 179994 180053 0.5 [{'connected_gene': 'PIR57941', 'score': 550.77}, {'connected_gene': 'ZMYND11', 'score': 550.25}, {'connected_gene': 'PIR54803', 'score': 0.34}]
chr10 GH10I000254 254174 254613 0.4 [{'connected_gene': 'PIR61472', 'score': 0.34}, {'connected_gene': 'GC10M000206', 'score': 0.26}, {'connected_gene': 'ZMYND11', 'score': 0.13}]
chr10 GH10I000191 191301 192648 0.57 [{'connected_gene': 'PIR43286', 'score': 0.39}, {'connected_gene': 'PIR57941', 'score': 0.39}, {'connected_gene': 'ZMYND11', 'score': 0.22}]
chr10 GH10I000252 252870 253234 0.4 [{'connected_gene': 'PIR61472', 'score': 0.34}, {'connected_gene': 'GC10M000206', 'score': 0.26}, {'connected_gene': 'ZMYND11', 'score': 0.13}]