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
ENST00000370750 [[56819772, 56820258], [56846508, 56846728], [56857175, 56857353], [56879259, 56879323], [56879930, 56880151], [56882004, 56882197], [56883218, 56883355], [56890879, 56892138]] [[56846608, 56846728], [56857175, 56857353], [56879259, 56879323], [56879930, 56879958]]
ENST00000370746 [[56820089, 56820258], [56846508, 56846728], [56857175, 56857353], [56879930, 56880151], [56882004, 56882197], [56883218, 56883355], [56890879, 56892140]] [[56846608, 56846728], [56857175, 56857353], [56879930, 56880151], [56882004, 56882197], [56883218, 56883346]]
ENST00000545789 [[56878606, 56878821], [56879259, 56879323], [56879930, 56880151], [56882004, 56882197], [56883218, 56883355], [56890879, 56892138]] [[56879319, 56879323], [56879930, 56880151], [56882004, 56882197], [56883218, 56883346]]
ENST00000370748 [[56819923, 56820258], [56846508, 56846728], [56857175, 56857353], [56872978, 56875742]] [[56846608, 56846728], [56857175, 56857353], [56872978, 56873001]]
ENST00000370745 [[56820169, 56820258], [56846508, 56846728], [56857175, 56857353], [56879259, 56879323], [56879930, 56879958]] [[56846608, 56846728], [56857175, 56857353], [56879259, 56879323], [56879930, 56879958]]
ENST00000484701 [[56878606, 56878821], [56879259, 56879323], [56879930, 56880151], [56882004, 56882197], [56883218, 56883269]] None
NM_152731 [[56819772, 56820258], [56846508, 56846728], [56857175, 56857353], [56879930, 56880151], [56882004, 56882197], [56883218, 56883355], [56890879, 56892144]] [[56846608, 56846728], [56857175, 56857353], [56879930, 56880151], [56882004, 56882197], [56883218, 56883346]]
NM_001318539 [[56819772, 56820258], [56846508, 56846728], [56857175, 56857353], [56872978, 56875744]] [[56846608, 56846728], [56857175, 56857353], [56872978, 56873001]]
Promoter
Chrom Start End Description
chr6 56819602 56819607 CAGE_peak_5_at_BEND6_5end
chr6 56819790 56819803 CAGE_peak_6_at_BEND6_5end
chr6 56819832 56819840 CAGE_peak_9_at_BEND6_5end
chr6 56819895 56819957 CAGE_peak_1_at_BEND6_5end
chr6 56820018 56820029 CAGE_peak_16_at_BEND6_5end
chr6 56820152 56820178 CAGE_peak_3_at_BEND6_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I056707 56707515 56710492 1.17 [{'connected_gene': 'DST', 'score': 22.7}, {'connected_gene': 'ZNF451', 'score': 9.97}, {'connected_gene': 'KIAA1586', 'score': 9.89}, {'connected_gene': 'BEND6', 'score': 9.79}, {'connected_gene': 'GC06M056744', 'score': 0.23}, {'connected_gene': 'GC06P056616', 'score': 0.16}]
chr6 GH06I056838 56838165 56844852 2.41 [{'connected_gene': 'DST', 'score': 550.14}, {'connected_gene': 'LOC101930010', 'score': 16.74}, {'connected_gene': 'PRIM2', 'score': 10.63}, {'connected_gene': 'BEND6', 'score': 6.64}, {'connected_gene': 'GC06P056805', 'score': 0.28}]
chr6 GH06I057045 57045975 57048001 2.28 [{'connected_gene': 'KIAA1586', 'score': 565.35}, {'connected_gene': 'GC06M057041', 'score': 550.77}, {'connected_gene': 'PRIM2', 'score': 23.33}, {'connected_gene': 'BEND6', 'score': 16.01}, {'connected_gene': 'ZNF451', 'score': 11.43}, {'connected_gene': 'LOC101927211', 'score': 10.21}, {'connected_gene': 'BAG2', 'score': 10.21}, {'connected_gene': 'ENSG00000272316', 'score': 9.69}, {'connected_gene': 'PIR59769', 'score': 0.31}]
chr6 GH06I056668 56668040 56674476 1.02 [{'connected_gene': 'KIAA1586', 'score': 15.0}, {'connected_gene': 'ZNF451', 'score': 13.18}, {'connected_gene': 'BEND6', 'score': 9.49}, {'connected_gene': 'DST', 'score': 9.49}, {'connected_gene': 'COL21A1', 'score': 5.03}, {'connected_gene': 'LOC101930010', 'score': 4.29}, {'connected_gene': 'GC06P056616', 'score': 0.22}, {'connected_gene': 'GC06M056744', 'score': 0.16}]
chr6 GH06I056523 56523756 56530192 1.35 [{'connected_gene': 'KIAA1586', 'score': 22.29}, {'connected_gene': 'ZNF451', 'score': 21.47}, {'connected_gene': 'BEND6', 'score': 18.79}, {'connected_gene': 'PRIM2', 'score': 10.01}, {'connected_gene': 'RAB23', 'score': 9.8}, {'connected_gene': 'GC06P056536', 'score': 0.44}, {'connected_gene': 'RCC2P7', 'score': 0.16}, {'connected_gene': 'DST', 'score': 0.04}]
chr6 GH06I057024 57024423 57024572 0.38 [{'connected_gene': 'KIAA1586', 'score': 10.99}, {'connected_gene': 'BEND6', 'score': 10.56}, {'connected_gene': 'DST', 'score': 10.56}, {'connected_gene': 'MRPL30P1', 'score': 0.77}, {'connected_gene': 'GC06P057005', 'score': 0.34}]
chr6 GH06I057312 57312174 57318533 2.54 [{'connected_gene': 'PRIM2', 'score': 586.93}, {'connected_gene': 'BEND6', 'score': 14.14}, {'connected_gene': 'LOC101927211', 'score': 10.29}, {'connected_gene': 'BAG2', 'score': 10.29}, {'connected_gene': 'DST', 'score': 10.2}, {'connected_gene': 'RAB23', 'score': 1.38}, {'connected_gene': 'GC06P057297', 'score': 0.37}, {'connected_gene': 'GC06M057367', 'score': 0.22}]
chr6 GH06I057303 57303573 57306522 0.59 [{'connected_gene': 'PRIM2', 'score': 4.65}, {'connected_gene': 'BEND6', 'score': 4.34}, {'connected_gene': 'GC06P057297', 'score': 0.44}]
chr6 GH06I057220 57220325 57223316 1.99 [{'connected_gene': 'RAB23', 'score': 550.77}, {'connected_gene': 'PRIM2', 'score': 19.38}, {'connected_gene': 'BEND6', 'score': 13.2}, {'connected_gene': 'GC06M057222', 'score': 0.26}, {'connected_gene': 'LOC101927211', 'score': 0.25}]
chr6 GH06I057028 57028235 57030430 0.6 [{'connected_gene': 'MRPL30P1', 'score': 550.77}, {'connected_gene': 'BEND6', 'score': 10.46}, {'connected_gene': 'DST', 'score': 10.46}, {'connected_gene': 'GC06P057005', 'score': 0.34}]
chr6 GH06I056765 56765782 56768543 1.27 [{'connected_gene': 'ZNF451', 'score': 75.09}, {'connected_gene': 'KIAA1586', 'score': 39.84}, {'connected_gene': 'PRIM2', 'score': 36.2}, {'connected_gene': 'LOC101927211', 'score': 21.76}, {'connected_gene': 'BEND6', 'score': 19.11}, {'connected_gene': 'LOC101930010', 'score': 14.99}, {'connected_gene': 'RAB23', 'score': 10.67}, {'connected_gene': 'DST', 'score': 9.99}, {'connected_gene': 'GC06M056744', 'score': 0.44}, {'connected_gene': 'GC06P056805', 'score': 0.28}]
chr6 GH06I056717 56717145 56718453 0.59 [{'connected_gene': 'ZNF451', 'score': 21.86}, {'connected_gene': 'KIAA1586', 'score': 21.49}, {'connected_gene': 'LOC101927211', 'score': 12.7}, {'connected_gene': 'BEND6', 'score': 10.1}, {'connected_gene': 'PRIM2', 'score': 9.79}, {'connected_gene': 'LOC101930010', 'score': 9.57}, {'connected_gene': 'GC06M056744', 'score': 0.26}, {'connected_gene': 'GC06P056616', 'score': 0.15}, {'connected_gene': 'DST', 'score': 0.07}]
chr6 GH06I056513 56513536 56516154 0.84 [{'connected_gene': 'ZNF451', 'score': 39.58}, {'connected_gene': 'KIAA1586', 'score': 20.24}, {'connected_gene': 'LOC101927211', 'score': 19.67}, {'connected_gene': 'BEND6', 'score': 18.79}, {'connected_gene': 'GC06P056536', 'score': 0.34}, {'connected_gene': 'RCC2P7', 'score': 0.18}, {'connected_gene': 'DST', 'score': 0.05}]
chr6 GH06I057089 57089002 57091401 2.29 [{'connected_gene': 'ZNF451', 'score': 550.77}, {'connected_gene': 'GC06M057088', 'score': 550.77}, {'connected_gene': 'BEND6', 'score': 20.23}, {'connected_gene': 'KIAA1586', 'score': 16.7}, {'connected_gene': 'PRIM2', 'score': 13.76}]
chr6 GH06I056901 56901736 56903440 1.02 [{'connected_gene': 'BEND6', 'score': 45.87}, {'connected_gene': 'DST', 'score': 12.67}, {'connected_gene': 'BAG2', 'score': 10.0}, {'connected_gene': 'LOC101927211', 'score': 10.0}, {'connected_gene': 'GC06M056915', 'score': 0.37}, {'connected_gene': 'GC06P056873', 'score': 0.29}]
chr6 GH06I056889 56889293 56892751 1.21 [{'connected_gene': 'BEND6', 'score': 15.97}, {'connected_gene': 'DST', 'score': 11.29}, {'connected_gene': 'KIAA1586', 'score': 10.32}, {'connected_gene': 'GC06P056873', 'score': 0.37}, {'connected_gene': 'GC06M056915', 'score': 0.31}]
chr6 GH06I056904 56904243 56905292 0.98 [{'connected_gene': 'BEND6', 'score': 51.05}, {'connected_gene': 'DST', 'score': 12.68}, {'connected_gene': 'LOC101927211', 'score': 10.0}, {'connected_gene': 'BAG2', 'score': 10.0}, {'connected_gene': 'GC06M056915', 'score': 0.39}, {'connected_gene': 'GC06P056873', 'score': 0.29}]
chr6 GH06I056876 56876083 56876292 1.01 [{'connected_gene': 'BEND6', 'score': 10.68}, {'connected_gene': 'DST', 'score': 10.68}, {'connected_gene': 'GC06P056873', 'score': 0.77}, {'connected_gene': 'GC06M056915', 'score': 0.26}]
chr6 GH06I056934 56934598 56935656 0.31 [{'connected_gene': 'BEND6', 'score': 35.32}, {'connected_gene': 'PIR47456', 'score': 0.44}, {'connected_gene': 'GC06M056941', 'score': 0.44}, {'connected_gene': 'GC06M056915', 'score': 0.37}, {'connected_gene': 'DST', 'score': 0.37}]
chr6 GH06I056910 56910964 56912841 0.63 [{'connected_gene': 'BEND6', 'score': 29.47}, {'connected_gene': 'GC06M056915', 'score': 0.44}, {'connected_gene': 'GC06P056873', 'score': 0.26}, {'connected_gene': 'DST', 'score': 0.26}]
chr6 GH06I056952 56952979 56956220 2.26 [{'connected_gene': 'BEND6', 'score': 600.62}, {'connected_gene': 'GC06M056952', 'score': 550.77}, {'connected_gene': 'DST', 'score': 550.77}]
chr6 GH06I056949 56949603 56950417 0.63 [{'connected_gene': 'BEND6', 'score': 40.78}, {'connected_gene': 'KIAA1586', 'score': 9.75}, {'connected_gene': 'RNU6-626P', 'score': 0.77}, {'connected_gene': 'GC06M056952', 'score': 0.77}, {'connected_gene': 'DST', 'score': 0.77}]
chr6 GH06I056957 56957987 56960004 0.74 [{'connected_gene': 'BEND6', 'score': 48.59}, {'connected_gene': 'KIAA1586', 'score': 10.33}, {'connected_gene': 'OSTCP6', 'score': 0.37}]
chr6 GH06I057310 57310223 57310352 0.2 [{'connected_gene': 'BEND6', 'score': 4.23}, {'connected_gene': 'PRIM2', 'score': 0.77}, {'connected_gene': 'GC06P057297', 'score': 0.39}]
chr6 GH06I057216 57216801 57217000 0.52 [{'connected_gene': 'BEND6', 'score': 14.74}, {'connected_gene': 'RAB23', 'score': 0.44}, {'connected_gene': 'LOC101927211', 'score': 0.26}]
chr6 GH06I056516 56516525 56520641 0.76 [{'connected_gene': 'BEND6', 'score': 18.79}, {'connected_gene': 'GC06P056536', 'score': 0.37}, {'connected_gene': 'RCC2P7', 'score': 0.17}, {'connected_gene': 'DST', 'score': 0.05}]
chr6 GH06I056960 56960023 56960212 0.69 [{'connected_gene': 'BEND6', 'score': 0.44}, {'connected_gene': 'OSTCP6', 'score': 0.37}]
chr6 GH06I056740 56740189 56743277 1.3 [{'connected_gene': 'LOC101930010', 'score': 10.47}, {'connected_gene': 'BEND6', 'score': 3.96}, {'connected_gene': 'GC06M056744', 'score': 0.34}, {'connected_gene': 'GC06P056616', 'score': 0.13}, {'connected_gene': 'DST', 'score': 0.08}]
chr6 GH06I056866 56866323 56870435 1.25 [{'connected_gene': 'LOC101930010', 'score': 17.36}, {'connected_gene': 'BEND6', 'score': 15.27}, {'connected_gene': 'LOC101927211', 'score': 9.41}, {'connected_gene': 'BAG2', 'score': 9.41}, {'connected_gene': 'RPL17P26', 'score': 0.77}, {'connected_gene': 'DST', 'score': 0.17}]
chr6 GH06I057261 57261755 57264265 0.92 [{'connected_gene': 'LOC100506188', 'score': 550.77}, {'connected_gene': 'GC06M057222', 'score': 550.77}, {'connected_gene': 'BAG2', 'score': 16.14}, {'connected_gene': 'LOC101927211', 'score': 10.71}, {'connected_gene': 'BEND6', 'score': 4.65}, {'connected_gene': 'GC06P057245', 'score': 0.37}]
chr6 GH06I057013 57013523 57013712 0.66 [{'connected_gene': 'GC06P057005', 'score': 0.44}, {'connected_gene': 'MRPL30P1', 'score': 0.37}, {'connected_gene': 'BEND6', 'score': 0.22}]
chr6 GH06I057241 57241902 57243634 1.26 [{'connected_gene': 'GC06M057241', 'score': 550.77}, {'connected_gene': 'ZNF451', 'score': 19.8}, {'connected_gene': 'PRIM2', 'score': 16.04}, {'connected_gene': 'BAG2', 'score': 15.67}, {'connected_gene': 'GUSBP4', 'score': 12.23}, {'connected_gene': 'ENSG00000272316', 'score': 10.64}, {'connected_gene': 'KIAA1586', 'score': 9.92}, {'connected_gene': 'LOC101927211', 'score': 9.78}, {'connected_gene': 'BEND6', 'score': 5.89}, {'connected_gene': 'GC06P057245', 'score': 0.77}, {'connected_gene': 'GC06M057222', 'score': 0.34}]
chr6 GH06I056937 56937645 56939608 1.19 [{'connected_gene': 'PIR47456', 'score': 550.77}, {'connected_gene': 'GC06M056941', 'score': 550.77}, {'connected_gene': 'BEND6', 'score': 31.48}, {'connected_gene': 'GC06M056915', 'score': 0.37}, {'connected_gene': 'DST', 'score': 0.37}]

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