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
ENST00000310836 [[115519610, 115520130], [115544034, 115544858], [115585150, 115585293], [115586835, 115586912], [115589240, 115589460], [115597080, 115599380]] [[115544036, 115544858], [115585150, 115585293], [115586835, 115586912], [115589240, 115589460], [115597080, 115597444]]
ENST00000507710 [[115519925, 115520130], [115540578, 115540681], [115544034, 115544461]] [[115544036, 115544461]]
ENST00000394511 [[115543522, 115544858], [115585150, 115585293], [115586835, 115586912], [115589240, 115589460], [115597080, 115597752]] [[115544036, 115544858], [115585150, 115585293], [115586835, 115586912], [115589240, 115589460], [115597080, 115597444]]
NM_001128174 [[115519557, 115520130], [115544034, 115544858], [115585150, 115585293], [115586835, 115586912], [115589240, 115589460], [115597080, 115599381]] [[115544036, 115544858], [115585150, 115585293], [115586835, 115586912], [115589240, 115589460], [115597080, 115597444]]
NM_001322112 [[115519557, 115520130], [115540578, 115540681], [115544034, 115544858], [115585150, 115585293], [115586835, 115586912], [115589240, 115589460], [115597080, 115599381]] [[115544036, 115544858], [115585150, 115585293], [115586835, 115586912], [115589240, 115589460], [115597080, 115597444]]
NM_001322113 [[115519557, 115520213], [115544034, 115544858], [115585150, 115585293], [115586835, 115586912], [115589240, 115589460], [115597080, 115599381]] [[115544036, 115544858], [115585150, 115585293], [115586835, 115586912], [115589240, 115589460], [115597080, 115597444]]
NM_001322114 [[115520440, 115520942], [115544034, 115544858], [115585150, 115585293], [115586835, 115586912], [115589240, 115589460], [115597080, 115599381]] [[115544036, 115544858], [115585150, 115585293], [115586835, 115586912], [115589240, 115589460], [115597080, 115597444]]
NM_003360 [[115543522, 115544858], [115585150, 115585293], [115586835, 115586912], [115589240, 115589460], [115597080, 115599381]] [[115544036, 115544858], [115585150, 115585293], [115586835, 115586912], [115589240, 115589460], [115597080, 115597444]]
Promoter
Chrom Start End Description
chr4 115519490 115519496 CAGE_peak_11_at_UGT8_5end
chr4 115519550 115519571 CAGE_peak_3_at_UGT8_5end
chr4 115519577 115519631 CAGE_peak_2_at_UGT8_5end
chr4 115519723 115519752 CAGE_peak_4_at_UGT8_5end
chr4 115519778 115519787 CAGE_peak_10_at_UGT8_5end
chr4 115519868 115519882 CAGE_peak_5_at_UGT8_5end
chr4 115519894 115519983 CAGE_peak_1_at_UGT8_5end
chr4 115519998 115520008 CAGE_peak_6_at_UGT8_5end
chr4 115520059 115520073 CAGE_peak_8_at_UGT8_5end
chr4 115520084 115520095 CAGE_peak_7_at_UGT8_5end
chr4 115520096 115520107 CAGE_peak_9_at_UGT8_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I114561 114561365 114565943 0.31 [{'connected_gene': 'UGT8', 'score': 25.52}, {'connected_gene': 'MIR577', 'score': 11.13}, {'connected_gene': 'LOC105377380', 'score': 0.44}]
chr4 GH04I114686 114686956 114691050 0.2 [{'connected_gene': 'UGT8', 'score': 15.3}, {'connected_gene': 'MIR577', 'score': 11.19}, {'connected_gene': 'GC04M114714', 'score': 0.31}, {'connected_gene': 'GC04P114657', 'score': 0.29}]
chr4 GH04I114597 114597765 114604421 2.35 [{'connected_gene': 'UGT8', 'score': 577.01}, {'connected_gene': 'MIR577', 'score': 10.83}, {'connected_gene': 'GC04P114629', 'score': 0.31}]
chr4 GH04I114582 114582213 114583546 0.4 [{'connected_gene': 'UGT8', 'score': 25.85}, {'connected_gene': 'LOC105377380', 'score': 0.31}]
chr4 GH04I114596 114596085 114596234 0.51 [{'connected_gene': 'UGT8', 'score': 7.54}, {'connected_gene': 'LOC105377380', 'score': 0.26}]
chr4 GH04I114592 114592999 114594246 0.4 [{'connected_gene': 'UGT8', 'score': 26.3}, {'connected_gene': 'LOC105377380', 'score': 0.28}]
chr4 GH04I114594 114594390 114595720 0.38 [{'connected_gene': 'UGT8', 'score': 26.3}, {'connected_gene': 'LOC105377380', 'score': 0.28}]
chr4 GH04I114492 114492297 114493286 0.2 [{'connected_gene': 'UGT8', 'score': 11.96}, {'connected_gene': 'LOC105377379', 'score': 0.29}, {'connected_gene': 'LOC105377380', 'score': 0.21}]
chr4 GH04I114495 114494904 114496414 0.72 [{'connected_gene': 'UGT8', 'score': 12.0}, {'connected_gene': 'LOC105377379', 'score': 0.28}, {'connected_gene': 'LOC105377380', 'score': 0.21}]
chr4 GH04I114494 114494405 114494534 0.66 [{'connected_gene': 'UGT8', 'score': 9.68}, {'connected_gene': 'LOC105377379', 'score': 0.28}, {'connected_gene': 'LOC105377380', 'score': 0.21}]
chr4 GH04I114418 114418858 114418876 0.22 [{'connected_gene': 'UGT8', 'score': 6.42}, {'connected_gene': 'GC04M114430', 'score': 0.34}, {'connected_gene': 'LOC105377378', 'score': 0.23}]
chr4 GH04I114628 114628107 114648524 0.52 [{'connected_gene': 'UGT8', 'score': 18.61}, {'connected_gene': 'GC04P114633', 'score': 0.77}, {'connected_gene': 'GC04P114629', 'score': 0.44}, {'connected_gene': 'GC04P114658', 'score': 0.37}]
chr4 GH04I114613 114613487 114614356 0.69 [{'connected_gene': 'UGT8', 'score': 11.27}, {'connected_gene': 'GC04P114629', 'score': 0.37}]
chr4 GH04I114649 114649819 114663938 0.62 [{'connected_gene': 'MIR577', 'score': 550.77}, {'connected_gene': 'GC04P114657', 'score': 550.77}, {'connected_gene': 'GC04P114658', 'score': 550.77}, {'connected_gene': 'UGT8', 'score': 15.38}, {'connected_gene': 'GC04P114633', 'score': 0.34}, {'connected_gene': 'GC04M114714', 'score': 0.22}]
chr4 GH04I114691 114691928 114693620 0.2 [{'connected_gene': 'MIR577', 'score': 10.94}, {'connected_gene': 'UGT8', 'score': 5.91}, {'connected_gene': 'GC04M114714', 'score': 0.34}, {'connected_gene': 'GC04P114657', 'score': 0.28}]
chr4 GH04I114683 114683008 114685176 0.31 [{'connected_gene': 'MIR577', 'score': 11.21}, {'connected_gene': 'UGT8', 'score': 10.31}, {'connected_gene': 'GC04P114657', 'score': 0.31}, {'connected_gene': 'GC04M114714', 'score': 0.29}]
chr4 GH04I114696 114696665 114698690 0.2 [{'connected_gene': 'MIR577', 'score': 11.23}, {'connected_gene': 'UGT8', 'score': 10.44}, {'connected_gene': 'GC04M114714', 'score': 0.37}, {'connected_gene': 'GC04P114657', 'score': 0.26}]
chr4 GH04I114606 114606148 114607114 0.51 [{'connected_gene': 'MIR577', 'score': 10.84}, {'connected_gene': 'UGT8', 'score': 0.44}, {'connected_gene': 'GC04P114629', 'score': 0.34}]
chr4 GH04I114625 114625672 114627434 0.2 [{'connected_gene': 'MIR577', 'score': 11.16}, {'connected_gene': 'UGT8', 'score': 4.99}, {'connected_gene': 'GC04P114629', 'score': 0.77}]
chr4 GH04I114614 114614801 114616502 0.82 [{'connected_gene': 'GC04P114629', 'score': 0.39}, {'connected_gene': 'UGT8', 'score': 0.37}]
chr4 GH04I114622 114622583 114624705 0.2 [{'connected_gene': 'GC04P114629', 'score': 0.44}, {'connected_gene': 'UGT8', 'score': 0.31}]
chr4 GH04I114650 114649334 114649754 0.2 [{'connected_gene': 'GC04P114658', 'score': 0.44}, {'connected_gene': 'GC04P114633', 'score': 0.37}, {'connected_gene': 'UGT8', 'score': 0.23}]
chr4 GH04I114673 114673781 114674881 0.2 [{'connected_gene': 'GC04P114657', 'score': 0.37}, {'connected_gene': 'GC04M114714', 'score': 0.26}, {'connected_gene': 'UGT8', 'score': 0.18}]