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
ENST00000246069 [[17550507, 17550856], [17581382, 17581690], [17585199, 17585276], [17587681, 17590564]] [[17550853, 17550856], [17581382, 17581690], [17585199, 17585276], [17587681, 17587791]]
ENST00000474024 [[17550726, 17550856], [17572576, 17572708], [17581382, 17581690], [17585199, 17585276], [17587681, 17588887]] [[17581430, 17581690], [17585199, 17585276], [17587681, 17587791]]
ENST00000449141 [[17550734, 17550856], [17581382, 17581690], [17585199, 17585276], [17585754, 17585856], [17587681, 17587867]] [[17550853, 17550856], [17581382, 17581690], [17585199, 17585276], [17585754, 17585774]]
NM_006870 [[17550598, 17550856], [17581382, 17581690], [17585199, 17585276], [17587681, 17588652]] [[17550853, 17550856], [17581382, 17581690], [17585199, 17585276], [17587681, 17587791]]
NM_001011546 [[17550598, 17550856], [17572576, 17572708], [17581382, 17581690], [17585199, 17585276], [17587681, 17588652]] [[17581430, 17581690], [17585199, 17585276], [17587681, 17587791]]
Promoter
Chrom Start End Description
chr20 17550062 17550089 CAGE_peak_4_at_DSTN_5end
chr20 17550458 17550476 CAGE_peak_7_at_DSTN_5end
chr20 17550489 17550543 CAGE_peak_3_at_DSTN_5end
chr20 17550544 17550559 CAGE_peak_6_at_DSTN_5end
chr20 17550575 17550596 CAGE_peak_5_at_DSTN_5end
chr20 17550691 17550782 CAGE_peak_1_at_DSTN_5end
chr20 17550786 17550804 CAGE_peak_2_at_DSTN_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr20 GH20I017556 17556173 17561527 2.05 [{'connected_gene': 'BFSP1', 'score': 550.39}, {'connected_gene': 'RRBP1', 'score': 21.02}, {'connected_gene': 'DSTN', 'score': 17.49}, {'connected_gene': 'GCNT1P1', 'score': 4.62}, {'connected_gene': 'ENSG00000277373', 'score': 0.44}, {'connected_gene': 'GC20P017516', 'score': 0.26}]
chr20 GH20I017652 17652214 17652573 0.66 [{'connected_gene': 'RRBP1', 'score': 11.73}, {'connected_gene': 'BANF2', 'score': 10.79}, {'connected_gene': 'DSTN', 'score': 10.71}, {'connected_gene': 'BFSP1', 'score': 10.71}, {'connected_gene': 'RNU6-192P', 'score': 10.63}, {'connected_gene': 'PIR52551', 'score': 0.44}, {'connected_gene': 'PIR38595', 'score': 0.44}]
chr20 GH20I017654 17654473 17656695 1.04 [{'connected_gene': 'RRBP1', 'score': 12.45}, {'connected_gene': 'BANF2', 'score': 11.72}, {'connected_gene': 'RNU6-192P', 'score': 11.52}, {'connected_gene': 'DSTN', 'score': 10.7}, {'connected_gene': 'BFSP1', 'score': 10.7}, {'connected_gene': 'PIR52551', 'score': 0.77}, {'connected_gene': 'PIR38595', 'score': 0.39}]
chr20 GH20I017591 17591777 17592265 0.2 [{'connected_gene': 'RRBP1', 'score': 9.67}, {'connected_gene': 'DSTN', 'score': 9.31}, {'connected_gene': 'LOC100286962', 'score': 0.44}, {'connected_gene': 'RN7SKP69', 'score': 0.37}, {'connected_gene': 'GC20M017577', 'score': 0.37}]
chr20 GH20I017621 17621254 17622248 0.31 [{'connected_gene': 'RRBP1', 'score': 9.38}, {'connected_gene': 'DSTN', 'score': 7.34}, {'connected_gene': 'PIR41690', 'score': 0.39}, {'connected_gene': 'LOC100286962', 'score': 0.34}]
chr20 GH20I017677 17677836 17684485 2.28 [{'connected_gene': 'RRBP1', 'score': 550.77}, {'connected_gene': 'DSTN', 'score': 7.62}, {'connected_gene': 'PIR52551', 'score': 0.34}]
chr20 GH20I017579 17579078 17579735 0.31 [{'connected_gene': 'RRBP1', 'score': 10.25}, {'connected_gene': 'RN7SKP69', 'score': 0.77}, {'connected_gene': 'GC20M017577', 'score': 0.77}, {'connected_gene': 'DSTN', 'score': 0.39}, {'connected_gene': 'LOC100286962', 'score': 0.34}]
chr20 GH20I017580 17580385 17582025 0.38 [{'connected_gene': 'RRBP1', 'score': 8.19}, {'connected_gene': 'RN7SKP69', 'score': 0.77}, {'connected_gene': 'GC20M017577', 'score': 0.77}, {'connected_gene': 'DSTN', 'score': 0.39}, {'connected_gene': 'LOC100286962', 'score': 0.37}]
chr20 GH20I017834 17834796 17837629 1.24 [{'connected_gene': 'BANF2', 'score': 10.95}, {'connected_gene': 'RRBP1', 'score': 10.38}, {'connected_gene': 'DSTN', 'score': 1.37}, {'connected_gene': 'GC20M017851', 'score': 0.37}, {'connected_gene': 'LOC105372547', 'score': 0.12}]
chr20 GH20I017630 17630237 17631668 0.2 [{'connected_gene': 'BANF2', 'score': 11.06}, {'connected_gene': 'RRBP1', 'score': 10.84}, {'connected_gene': 'DSTN', 'score': 5.09}, {'connected_gene': 'PIR41690', 'score': 0.77}, {'connected_gene': 'LOC100286962', 'score': 0.29}]
chr20 GH20I017806 17806008 17810800 1.15 [{'connected_gene': 'BANF2', 'score': 11.31}, {'connected_gene': 'RRBP1', 'score': 11.06}, {'connected_gene': 'LOC100286962', 'score': 6.31}, {'connected_gene': 'DSTN', 'score': 4.8}, {'connected_gene': 'GC20M017851', 'score': 0.26}, {'connected_gene': 'LOC105372547', 'score': 0.14}]
chr20 GH20I017573 17573835 17574512 0.2 [{'connected_gene': 'BANF2', 'score': 9.95}, {'connected_gene': 'RN7SKP69', 'score': 0.77}, {'connected_gene': 'BFSP1', 'score': 0.77}, {'connected_gene': 'GC20M017577', 'score': 0.77}, {'connected_gene': 'DSTN', 'score': 0.44}]
chr20 GH20I017566 17566971 17573517 2.24 [{'connected_gene': 'DSTN', 'score': 567.86}, {'connected_gene': 'BFSP1', 'score': 550.77}, {'connected_gene': 'RRBP1', 'score': 18.08}, {'connected_gene': 'ZNF133', 'score': 11.77}, {'connected_gene': 'POLR3F', 'score': 10.95}, {'connected_gene': 'BANF2', 'score': 10.23}, {'connected_gene': 'RN7SKP69', 'score': 0.44}, {'connected_gene': 'GC20M017577', 'score': 0.44}]
chr20 GH20I017533 17533245 17534553 0.87 [{'connected_gene': 'DSTN', 'score': 12.45}, {'connected_gene': 'BFSP1', 'score': 12.45}, {'connected_gene': 'RRBP1', 'score': 11.14}, {'connected_gene': 'BANF2', 'score': 10.18}, {'connected_gene': 'GC20P017516', 'score': 0.37}, {'connected_gene': 'ENSG00000277373', 'score': 0.29}]
chr20 GH20I017541 17541904 17544602 0.92 [{'connected_gene': 'DSTN', 'score': 12.75}, {'connected_gene': 'BFSP1', 'score': 12.75}, {'connected_gene': 'RRBP1', 'score': 10.69}, {'connected_gene': 'BANF2', 'score': 10.43}, {'connected_gene': 'ENSG00000277373', 'score': 0.34}, {'connected_gene': 'GC20P017516', 'score': 0.31}]
chr20 GH20I017538 17538391 17539118 0.74 [{'connected_gene': 'DSTN', 'score': 12.47}, {'connected_gene': 'BFSP1', 'score': 12.47}, {'connected_gene': 'RRBP1', 'score': 10.71}, {'connected_gene': 'BANF2', 'score': 10.18}, {'connected_gene': 'GC20P017516', 'score': 0.34}, {'connected_gene': 'ENSG00000277373', 'score': 0.31}]
chr20 GH20I017536 17536621 17537525 1.33 [{'connected_gene': 'DSTN', 'score': 12.47}, {'connected_gene': 'BFSP1', 'score': 12.47}, {'connected_gene': 'RRBP1', 'score': 10.71}, {'connected_gene': 'POLR3F', 'score': 10.36}, {'connected_gene': 'BANF2', 'score': 10.18}, {'connected_gene': 'GC20P017516', 'score': 0.34}, {'connected_gene': 'ENSG00000277373', 'score': 0.31}]
chr20 GH20I017592 17592630 17593319 0.2 [{'connected_gene': 'DSTN', 'score': 11.35}, {'connected_gene': 'BFSP1', 'score': 11.35}, {'connected_gene': 'RRBP1', 'score': 9.94}, {'connected_gene': 'LOC100286962', 'score': 0.44}, {'connected_gene': 'RN7SKP69', 'score': 0.37}, {'connected_gene': 'GC20M017577', 'score': 0.37}]
chr20 GH20I017605 17605036 17605919 1.1 [{'connected_gene': 'DSTN', 'score': 11.91}, {'connected_gene': 'BFSP1', 'score': 11.91}, {'connected_gene': 'RRBP1', 'score': 10.31}, {'connected_gene': 'LOC100286962', 'score': 0.44}, {'connected_gene': 'PIR41690', 'score': 0.31}]
chr20 GH20I017601 17601932 17602548 0.2 [{'connected_gene': 'DSTN', 'score': 11.92}, {'connected_gene': 'BFSP1', 'score': 11.92}, {'connected_gene': 'RRBP1', 'score': 10.3}, {'connected_gene': 'LOC100286962', 'score': 0.77}, {'connected_gene': 'PIR41690', 'score': 0.29}]
chr20 GH20I017602 17602596 17602745 0.2 [{'connected_gene': 'DSTN', 'score': 11.92}, {'connected_gene': 'BFSP1', 'score': 11.92}, {'connected_gene': 'RRBP1', 'score': 10.31}, {'connected_gene': 'LOC100286962', 'score': 0.77}, {'connected_gene': 'PIR41690', 'score': 0.29}]
chr20 GH20I017649 17649655 17651889 0.83 [{'connected_gene': 'DSTN', 'score': 18.49}, {'connected_gene': 'RRBP1', 'score': 11.71}, {'connected_gene': 'BANF2', 'score': 10.79}, {'connected_gene': 'BFSP1', 'score': 10.71}, {'connected_gene': 'RNU6-192P', 'score': 10.63}, {'connected_gene': 'PIR52551', 'score': 0.44}, {'connected_gene': 'PIR38595', 'score': 0.44}]
chr20 GH20I017684 17684506 17685232 0.91 [{'connected_gene': 'DSTN', 'score': 11.57}, {'connected_gene': 'RRBP1', 'score': 0.77}, {'connected_gene': 'BANF2', 'score': 0.44}]
chr20 GH20I017586 17586002 17586938 0.31 [{'connected_gene': 'DSTN', 'score': 11.78}, {'connected_gene': 'RRBP1', 'score': 10.47}, {'connected_gene': 'RN7SKP69', 'score': 0.44}, {'connected_gene': 'GC20M017577', 'score': 0.44}, {'connected_gene': 'LOC100286962', 'score': 0.39}]
chr20 GH20I017588 17588672 17589728 0.43 [{'connected_gene': 'DSTN', 'score': 21.73}, {'connected_gene': 'RRBP1', 'score': 10.47}, {'connected_gene': 'RN7SKP69', 'score': 0.39}, {'connected_gene': 'LOC100286962', 'score': 0.39}, {'connected_gene': 'GC20M017577', 'score': 0.39}]
chr20 GH20I017589 17588066 17588612 0.2 [{'connected_gene': 'DSTN', 'score': 11.57}, {'connected_gene': 'RRBP1', 'score': 10.47}, {'connected_gene': 'RN7SKP69', 'score': 0.39}, {'connected_gene': 'LOC100286962', 'score': 0.39}, {'connected_gene': 'GC20M017577', 'score': 0.39}]
chr20 GH20I017609 17609337 17616365 1.41 [{'connected_gene': 'DSTN', 'score': 17.08}, {'connected_gene': 'RRBP1', 'score': 15.15}, {'connected_gene': 'LOC100286962', 'score': 0.39}, {'connected_gene': 'PIR41690', 'score': 0.34}]
chr20 GH20I017665 17665940 17666912 0.51 [{'connected_gene': 'DSTN', 'score': 7.32}, {'connected_gene': 'PIR52551', 'score': 0.44}, {'connected_gene': 'RRBP1', 'score': 0.37}]
chr20 GH20I017645 17645876 17647384 0.86 [{'connected_gene': 'DSTN', 'score': 15.2}, {'connected_gene': 'PIR38595', 'score': 0.77}, {'connected_gene': 'PIR52551', 'score': 0.39}, {'connected_gene': 'RRBP1', 'score': 0.28}]
chr20 GH20I017647 17647576 17649445 1.02 [{'connected_gene': 'DSTN', 'score': 15.36}, {'connected_gene': 'PIR38595', 'score': 0.44}, {'connected_gene': 'PIR52551', 'score': 0.39}, {'connected_gene': 'RRBP1', 'score': 0.29}]
chr20 GH20I017638 17638704 17639380 0.2 [{'connected_gene': 'DSTN', 'score': 5.24}, {'connected_gene': 'GC20P017643', 'score': 0.77}, {'connected_gene': 'PIR41690', 'score': 0.44}, {'connected_gene': 'RRBP1', 'score': 0.26}]
chr20 GH20I017670 17670436 17673450 0.46 [{'connected_gene': 'DSTN', 'score': 8.52}, {'connected_gene': 'PIR52551', 'score': 0.39}, {'connected_gene': 'RRBP1', 'score': 0.39}]
chr20 GH20I017688 17688785 17689516 0.2 [{'connected_gene': 'DSTN', 'score': 7.69}, {'connected_gene': 'BANF2', 'score': 0.77}, {'connected_gene': 'RRBP1', 'score': 0.44}]
chr20 GH20I017593 17593526 17595660 1.13 [{'connected_gene': 'DSTN', 'score': 23.89}, {'connected_gene': 'POLR3F', 'score': 14.39}, {'connected_gene': 'BFSP1', 'score': 12.27}, {'connected_gene': 'ZNF133', 'score': 10.69}, {'connected_gene': 'RRBP1', 'score': 9.94}, {'connected_gene': 'LOC100286962', 'score': 0.44}, {'connected_gene': 'RN7SKP69', 'score': 0.37}, {'connected_gene': 'GC20M017577', 'score': 0.37}]
chr20 GH20I017576 17576509 17576812 0.28 [{'connected_gene': 'RN7SKP69', 'score': 550.77}, {'connected_gene': 'GC20M017577', 'score': 550.77}, {'connected_gene': 'RRBP1', 'score': 10.25}, {'connected_gene': 'DSTN', 'score': 0.44}, {'connected_gene': 'LOC100286962', 'score': 0.34}]
chr20 GH20I017581 17579736 17579885 0.51 [{'connected_gene': 'RN7SKP69', 'score': 0.77}, {'connected_gene': 'GC20M017577', 'score': 0.77}, {'connected_gene': 'DSTN', 'score': 0.39}, {'connected_gene': 'LOC100286962', 'score': 0.37}]
chr20 GH20I017599 17599087 17599947 0.43 [{'connected_gene': 'LOC100286962', 'score': 550.77}, {'connected_gene': 'ZNF133', 'score': 18.45}, {'connected_gene': 'RRBP1', 'score': 9.9}, {'connected_gene': 'RN7SKP69', 'score': 0.34}, {'connected_gene': 'GC20M017577', 'score': 0.34}, {'connected_gene': 'DSTN', 'score': 0.29}]
chr20 GH20I017610 17609076 17609225 0.2 [{'connected_gene': 'LOC100286962', 'score': 0.44}, {'connected_gene': 'PIR41690', 'score': 0.34}, {'connected_gene': 'DSTN', 'score': 0.28}]
chr20 GH20I017659 17659390 17664875 1.25 [{'connected_gene': 'PIR52551', 'score': 550.77}, {'connected_gene': 'RRBP1', 'score': 12.48}, {'connected_gene': 'BANF2', 'score': 11.73}, {'connected_gene': 'DSTN', 'score': 9.75}]
chr20 GH20I017564 17564716 17566074 0.38 [{'connected_gene': 'ENSG00000277373', 'score': 550.77}, {'connected_gene': 'DSTN', 'score': 17.86}, {'connected_gene': 'RRBP1', 'score': 10.06}, {'connected_gene': 'BFSP1', 'score': 0.77}, {'connected_gene': 'GC20P017516', 'score': 0.25}]

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