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
ENST00000377102 [[80910110, 80911891], [80912867, 80913794]] [[80910892, 80911840]]
ENST00000377104 [[80910110, 80911891], [80914756, 80915086]] [[80910892, 80911840]]
ENST00000540649 [[80910892, 80911891], [80913992, 80914243]] [[80910892, 80911840]]
NM_001318537 [[80910110, 80911891], [80912867, 80913794]] [[80910892, 80911840]]
NM_001318538 [[80910110, 80911891], [80912973, 80913794]] [[80910892, 80911840]]
NM_001318536 [[80910110, 80911891], [80913992, 80914243]] [[80910892, 80911840]]
NM_005842 [[80910110, 80911891], [80914756, 80915250]] [[80910892, 80911840]]
Promoter
Chrom Start End Description
chr13 80911879 80911890 CAGE_peak_16_at_SPRY2_5end
chr13 80912979 80913003 CAGE_peak_9_at_SPRY2_5end
chr13 80913025 80913042 CAGE_peak_11_at_SPRY2_5end
chr13 80913188 80913206 CAGE_peak_12_at_SPRY2_5end
chr13 80914790 80914795 CAGE_peak_41_at_SPRY2_5end
chr13 80915059 80915080 CAGE_peak_6_at_SPRY2_5end
chr13 80915235 80915251 CAGE_peak_3_at_SPRY2_5end
chr13 80915252 80915274 CAGE_peak_1_at_SPRY2_5end
chr13 80915289 80915300 CAGE_peak_4_at_SPRY2_5end
chr13 80915409 80915418 CAGE_peak_5_at_SPRY2_5end
chr13 80915433 80915476 CAGE_peak_2_at_SPRY2_5end
chr13 80915582 80915589 CAGE_peak_15_at_SPRY2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I080334 80334726 80335800 0.83 [{'connected_gene': 'RNU6-61P', 'score': 10.86}, {'connected_gene': 'SPRY2', 'score': 0.44}, {'connected_gene': 'LOC101927238', 'score': 0.13}]
chr13 GH13I080399 80399026 80401324 0.83 [{'connected_gene': 'RNU6-61P', 'score': 11.42}, {'connected_gene': 'SPRY2', 'score': 10.94}, {'connected_gene': 'PIR34078', 'score': 0.77}, {'connected_gene': 'HNRNPA1P31', 'score': 0.08}]
chr13 GH13I080361 80361332 80362964 1.28 [{'connected_gene': 'SPRY2', 'score': 11.94}, {'connected_gene': 'RNU6-61P', 'score': 0.44}, {'connected_gene': 'LOC105370276', 'score': 0.44}]
chr13 GH13I080435 80435178 80438323 0.54 [{'connected_gene': 'SPRY2', 'score': 11.3}, {'connected_gene': 'RNU6-61P', 'score': 10.96}, {'connected_gene': 'LINC00377', 'score': 6.59}, {'connected_gene': 'PIR34078', 'score': 0.28}, {'connected_gene': 'HNRNPA1P31', 'score': 0.09}]
chr13 GH13I080373 80373742 80375498 0.31 [{'connected_gene': 'SPRY2', 'score': 11.2}, {'connected_gene': 'RNU6-61P', 'score': 0.44}, {'connected_gene': 'PIR34078', 'score': 0.34}]
chr13 GH13I079775 79775595 79776949 0.91 [{'connected_gene': 'SPRY2', 'score': 11.44}, {'connected_gene': 'GC13M079776', 'score': 0.77}, {'connected_gene': 'LINC01068', 'score': 0.08}]
chr13 GH13I079798 79798632 79799763 0.52 [{'connected_gene': 'SPRY2', 'score': 9.6}, {'connected_gene': 'LINC01038', 'score': 0.44}, {'connected_gene': 'GC13P079780', 'score': 0.37}]
chr13 GH13I079781 79781896 79784152 0.82 [{'connected_gene': 'SPRY2', 'score': 11.09}, {'connected_gene': 'GC13P079780', 'score': 0.77}, {'connected_gene': 'LINC01038', 'score': 0.34}]
chr13 GH13I080194 80194686 80194835 0.31 [{'connected_gene': 'SPRY2', 'score': 11.04}, {'connected_gene': 'LOC101927238', 'score': 0.37}, {'connected_gene': 'LOC105370275', 'score': 0.31}]
chr13 GH13I080296 80296090 80297835 0.38 [{'connected_gene': 'SPRY2', 'score': 0.26}, {'connected_gene': 'LOC101927238', 'score': 0.17}]
chr13 GH13I080336 80336109 80343841 2.57 [{'connected_gene': 'SPRY2', 'score': 550.77}, {'connected_gene': 'LOC101927238', 'score': 0.13}]
chr13 GH13I080276 80276117 80277296 1.01 [{'connected_gene': 'SPRY2', 'score': 0.21}, {'connected_gene': 'LOC101927238', 'score': 0.2}]
chr13 GH13I080297 80297898 80298081 0.2 [{'connected_gene': 'SPRY2', 'score': 0.26}, {'connected_gene': 'LOC101927238', 'score': 0.17}]
chr13 GH13I080239 80239706 80239855 0.38 [{'connected_gene': 'SPRY2', 'score': 11.04}, {'connected_gene': 'LOC101927238', 'score': 0.31}]
chr13 GH13I080234 80234928 80236355 1.17 [{'connected_gene': 'SPRY2', 'score': 11.06}, {'connected_gene': 'LOC101927238', 'score': 0.34}]
chr13 GH13I080054 80054810 80055290 0.49 [{'connected_gene': 'SPRY2', 'score': 10.52}, {'connected_gene': 'LOC101927216', 'score': 0.34}, {'connected_gene': 'LINC01080', 'score': 0.26}]
chr13 GH13I080050 80050400 80050601 0.51 [{'connected_gene': 'SPRY2', 'score': 10.52}, {'connected_gene': 'LOC101927216', 'score': 0.34}, {'connected_gene': 'LINC01080', 'score': 0.28}]
chr13 GH13I079866 79866941 79870600 0.73 [{'connected_gene': 'SPRY2', 'score': 10.04}, {'connected_gene': 'LINC00382', 'score': 0.77}, {'connected_gene': 'LINC01038', 'score': 0.21}]
chr13 GH13I080019 80019770 80020606 0.43 [{'connected_gene': 'SPRY2', 'score': 10.48}, {'connected_gene': 'LINC01080', 'score': 0.44}, {'connected_gene': 'LOC101927216', 'score': 0.22}]
chr13 GH13I080021 80021570 80023779 0.38 [{'connected_gene': 'SPRY2', 'score': 10.48}, {'connected_gene': 'LINC01080', 'score': 0.39}, {'connected_gene': 'LOC101927216', 'score': 0.23}]
chr13 GH13I080630 80630209 80631701 0.46 [{'connected_gene': 'SPRY2', 'score': 5.13}, {'connected_gene': 'HNRNPA1P31', 'score': 0.39}, {'connected_gene': 'PWWP2AP1', 'score': 0.34}]
chr13 GH13I080453 80453747 80455075 0.74 [{'connected_gene': 'SPRY2', 'score': 11.14}, {'connected_gene': 'PIR34078', 'score': 0.22}, {'connected_gene': 'HNRNPA1P31', 'score': 0.1}]
chr13 GH13I080605 80605173 80606853 0.31 [{'connected_gene': 'SPRY2', 'score': 4.81}, {'connected_gene': 'HNRNPA1P31', 'score': 0.39}, {'connected_gene': 'PIR34078', 'score': 0.08}]
chr13 GH13I080599 80599546 80599695 0.31 [{'connected_gene': 'SPRY2', 'score': 10.44}, {'connected_gene': 'HNRNPA1P31', 'score': 0.34}, {'connected_gene': 'PIR34078', 'score': 0.08}]
chr13 GH13I080477 80477435 80478477 0.67 [{'connected_gene': 'SPRY2', 'score': 9.81}, {'connected_gene': 'PIR34078', 'score': 0.18}, {'connected_gene': 'HNRNPA1P31', 'score': 0.11}]
chr13 GH13I080684 80684227 80685231 0.52 [{'connected_gene': 'SPRY2', 'score': 9.54}, {'connected_gene': 'GC13P080701', 'score': 0.37}, {'connected_gene': 'PWWP2AP1', 'score': 0.31}]
chr13 GH13I080217 80217253 80218789 0.69 [{'connected_gene': 'LOC101927238', 'score': 0.44}, {'connected_gene': 'SPRY2', 'score': 0.13}]
chr13 GH13I080250 80250056 80250724 0.49 [{'connected_gene': 'LOC101927238', 'score': 0.28}, {'connected_gene': 'SPRY2', 'score': 0.16}]
chr13 GH13I080214 80214439 80215451 0.49 [{'connected_gene': 'LOC101927238', 'score': 0.77}, {'connected_gene': 'SPRY2', 'score': 0.13}]
chr13 GH13I080258 80258866 80259548 0.52 [{'connected_gene': 'LOC101927238', 'score': 0.25}, {'connected_gene': 'SPRY2', 'score': 0.18}]
chr13 GH13I080215 80215526 80215675 0.31 [{'connected_gene': 'LOC101927238', 'score': 0.77}, {'connected_gene': 'SPRY2', 'score': 0.13}]
chr13 GH13I079779 79779408 79780990 0.79 [{'connected_gene': 'GC13M079776', 'score': 550.77}, {'connected_gene': 'GC13P079780', 'score': 550.77}, {'connected_gene': 'SPRY2', 'score': 11.09}, {'connected_gene': 'RBM26-AS1', 'score': 4.98}]