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
ENST00000314136 [[150190716, 150193063], [150195511, 150195566], [150198939, 150199127], [150201404, 150201570], [150202905, 150203028], [150204114, 150204264], [150208080, 150208504]] [[150192992, 150193063], [150195511, 150195566], [150198939, 150199127], [150201404, 150201570], [150202905, 150203028], [150204114, 150204264], [150208080, 150208134]]
ENST00000369119 [[150190854, 150193063], [150195511, 150195566], [150198939, 150199127], [150201404, 150201570], [150202905, 150203028], [150204114, 150204264], [150206926, 150207026]] [[150192992, 150193063], [150195511, 150195566], [150198939, 150199127], [150201404, 150201570], [150202905, 150203028], [150204114, 150204174]]
ENST00000369116 [[150190860, 150193063], [150195511, 150195566], [150198939, 150199127], [150201404, 150201447], [150208080, 150208460]] [[150192992, 150193063], [150195511, 150195566], [150198939, 150199127], [150201404, 150201447], [150208080, 150208134]]
ENST00000436748 [[150192573, 150193063], [150195511, 150195566], [150198939, 150199127], [150201404, 150201570], [150204114, 150204264], [150208080, 150208370]] [[150192992, 150193063], [150195511, 150195566], [150198939, 150199127], [150201404, 150201570], [150204114, 150204264], [150208080, 150208134]]
ENST00000534437 [[150192679, 150193063], [150195511, 150195620], [150198939, 150199062]] [[150192992, 150193063], [150195511, 150195620], [150198939, 150199062]]
ENST00000369114 [[150192693, 150193060], [150195511, 150195566], [150202905, 150203028], [150204114, 150204264], [150208080, 150208433]] [[150192992, 150193060], [150195511, 150195566], [150202905, 150203028], [150204114, 150204264], [150208080, 150208134]]
ENST00000369115 [[150192762, 150193063], [150195511, 150195566], [150198939, 150199127], [150201404, 150201447], [150208080, 150208177], [150208423, 150208447]] [[150192992, 150193063], [150195511, 150195566], [150198939, 150199127], [150201404, 150201447], [150208080, 150208134]]
ENST00000533654 [[150192839, 150193063], [150198939, 150199127], [150202905, 150203028], [150204114, 150204264], [150208080, 150208303]] [[150198956, 150199127], [150202905, 150203028], [150204114, 150204264], [150208080, 150208134]]
ENST00000534220 [[150198939, 150199127], [150201404, 150201477], [150208080, 150208331]] [[150198939, 150199127], [150201404, 150201477], [150208080, 150208134]]
ENST00000532744 [[150201404, 150201570], [150202905, 150203028], [150208080, 150208412]] [[150201404, 150201570], [150202905, 150203028], [150208080, 150208134]]
NM_001136479 [[150190716, 150193063], [150195511, 150195566], [150198939, 150199127], [150201404, 150201570], [150202905, 150203028], [150204114, 150204264], [150206926, 150207026]] [[150192992, 150193063], [150195511, 150195566], [150198939, 150199127], [150201404, 150201570], [150202905, 150203028], [150204114, 150204174]]
NM_030920 [[150190716, 150193063], [150195511, 150195566], [150198939, 150199127], [150201404, 150201570], [150202905, 150203028], [150204114, 150204264], [150208080, 150208504]] [[150192992, 150193063], [150195511, 150195566], [150198939, 150199127], [150201404, 150201570], [150202905, 150203028], [150204114, 150204264], [150208080, 150208134]]
NM_001280559 [[150190716, 150193060], [150195511, 150195566], [150198939, 150199127], [150201404, 150201570], [150202905, 150203028], [150204114, 150204264], [150208080, 150208504]] [[150192992, 150193060], [150195511, 150195566], [150198939, 150199127], [150201404, 150201570], [150202905, 150203028], [150204114, 150204264], [150208080, 150208134]]
NM_001280560 [[150190716, 150193063], [150198939, 150199127], [150202905, 150203028], [150204114, 150204264], [150208080, 150208504]] [[150198956, 150199127], [150202905, 150203028], [150204114, 150204264], [150208080, 150208134]]
NM_001136478 [[150190716, 150193063], [150195511, 150195566], [150198939, 150199127], [150201404, 150201570], [150204114, 150204264], [150208080, 150208504]] [[150192992, 150193063], [150195511, 150195566], [150198939, 150199127], [150201404, 150201570], [150204114, 150204264], [150208080, 150208134]]
Promoter
Chrom Start End Description
chr1 150192499 150192512 CAGE_peak_3_at_ANP32E_5end
chr1 150207017 150207032 CAGE_peak_9_at_ANP32E_5end
chr1 150208291 150208309 CAGE_peak_6_at_ANP32E_5end
chr1 150208320 150208338 CAGE_peak_4_at_ANP32E_5end
chr1 150208343 150208360 CAGE_peak_5_at_ANP32E_5end
chr1 150208363 150208386 CAGE_peak_2_at_ANP32E_5end
chr1 150208451 150208467 CAGE_peak_1_at_ANP32E_5end
chr1 150208486 150208497 CAGE_peak_8_at_ANP32E_5end
chr1 150208498 150208509 CAGE_peak_7_at_ANP32E_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I150609 150609002 150616482 1.83 [{'connected_gene': 'HORMAD1', 'score': 49.09}, {'connected_gene': 'MCL1', 'score': 33.69}, {'connected_gene': 'PRPF3', 'score': 24.61}, {'connected_gene': 'ARNT', 'score': 23.3}, {'connected_gene': 'GOLPH3L', 'score': 22.43}, {'connected_gene': 'CTSS', 'score': 20.84}, {'connected_gene': 'GABPB2', 'score': 16.48}, {'connected_gene': 'PI4KB', 'score': 14.26}, {'connected_gene': 'PIP5K1A', 'score': 11.91}, {'connected_gene': 'UBE2D3P3', 'score': 11.72}, {'connected_gene': 'SETDB1', 'score': 11.71}, {'connected_gene': 'CDC42SE1', 'score': 11.64}, {'connected_gene': 'POGZ', 'score': 11.59}, {'connected_gene': 'RPRD2', 'score': 11.48}, {'connected_gene': 'CTSK', 'score': 10.48}, {'connected_gene': 'PLEKHO1', 'score': 7.03}, {'connected_gene': 'C1orf54', 'score': 5.78}, {'connected_gene': 'MINDY1', 'score': 3.36}, {'connected_gene': 'ANP32E', 'score': 2.27}, {'connected_gene': 'ENSG00000276103', 'score': 0.77}, {'connected_gene': 'ENSA', 'score': 0.37}]
chr1 GH01I150618 150618944 150626492 1.75 [{'connected_gene': 'HORMAD1', 'score': 25.54}, {'connected_gene': 'MCL1', 'score': 15.3}, {'connected_gene': 'GOLPH3L', 'score': 13.71}, {'connected_gene': 'ARNT', 'score': 13.06}, {'connected_gene': 'CTSS', 'score': 6.91}, {'connected_gene': 'C1orf54', 'score': 6.85}, {'connected_gene': 'PRPF3', 'score': 4.84}, {'connected_gene': 'PLEKHO1', 'score': 4.66}, {'connected_gene': 'CDC42SE1', 'score': 3.49}, {'connected_gene': 'MINDY1', 'score': 2.25}, {'connected_gene': 'ANP32E', 'score': 1.46}, {'connected_gene': 'ENSA', 'score': 0.44}, {'connected_gene': 'ENSG00000276103', 'score': 0.39}]
chr1 GH01I150231 150231918 150231977 0.5 [{'connected_gene': 'ANP32E', 'score': 550.77}, {'connected_gene': 'GC01P150214', 'score': 0.37}]
chr1 GH01I150008 150008770 150011646 2.62 [{'connected_gene': 'OTUD7B', 'score': 553.09}, {'connected_gene': 'PRPF3', 'score': 24.87}, {'connected_gene': 'SETDB1', 'score': 23.77}, {'connected_gene': 'MTMR11', 'score': 18.5}, {'connected_gene': 'ARNT', 'score': 14.12}, {'connected_gene': 'ADAMTSL4', 'score': 14.11}, {'connected_gene': 'SV2A', 'score': 13.5}, {'connected_gene': 'UBE2D3P3', 'score': 13.49}, {'connected_gene': 'RPRD2', 'score': 12.01}, {'connected_gene': 'CTSK', 'score': 11.78}, {'connected_gene': 'SF3B4', 'score': 11.16}, {'connected_gene': 'HIST2H2AB', 'score': 10.42}, {'connected_gene': 'BOLA1', 'score': 10.42}, {'connected_gene': 'HIST2H2AC', 'score': 10.42}, {'connected_gene': 'HIST2H2BE', 'score': 10.42}, {'connected_gene': 'MCL1', 'score': 9.68}, {'connected_gene': 'CA14', 'score': 9.21}, {'connected_gene': 'ANP32E', 'score': 1.8}, {'connected_gene': 'PIR49087', 'score': 0.19}]
chr1 GH01I151068 151068844 151072127 2.13 [{'connected_gene': 'GABPB2', 'score': 638.1}, {'connected_gene': 'CDC42SE1', 'score': 550.77}, {'connected_gene': 'PRPF3', 'score': 90.28}, {'connected_gene': 'SETDB1', 'score': 89.28}, {'connected_gene': 'PI4KB', 'score': 87.23}, {'connected_gene': 'PIP5K1A', 'score': 71.57}, {'connected_gene': 'MRPL9', 'score': 64.37}, {'connected_gene': 'UBE2D3P3', 'score': 59.87}, {'connected_gene': 'ARNT', 'score': 59.3}, {'connected_gene': 'CTSK', 'score': 58.03}, {'connected_gene': 'ZNF687', 'score': 47.51}, {'connected_gene': 'GOLPH3L', 'score': 47.25}, {'connected_gene': 'RPRD2', 'score': 42.05}, {'connected_gene': 'POGZ', 'score': 37.54}, {'connected_gene': 'LYSMD1', 'score': 28.7}, {'connected_gene': 'RN7SL444P', 'score': 28.5}, {'connected_gene': 'BNIPL', 'score': 23.79}, {'connected_gene': 'APH1A', 'score': 18.68}, {'connected_gene': 'ANP32E', 'score': 12.06}, {'connected_gene': 'SEMA6C', 'score': 11.88}, {'connected_gene': 'PSMB4', 'score': 10.01}, {'connected_gene': 'RFX5', 'score': 9.81}, {'connected_gene': 'RPS10P6', 'score': 9.75}, {'connected_gene': 'CTSS', 'score': 6.59}]
chr1 GH01I150232 150232751 150237521 2.34 [{'connected_gene': 'RNU2-17P', 'score': 550.77}, {'connected_gene': 'GC01P150237', 'score': 550.77}, {'connected_gene': 'ANP32E', 'score': 550.77}, {'connected_gene': 'SETDB1', 'score': 113.22}, {'connected_gene': 'PRPF3', 'score': 110.13}, {'connected_gene': 'PIP5K1A', 'score': 89.97}, {'connected_gene': 'GABPB2', 'score': 77.36}, {'connected_gene': 'SF3B4', 'score': 71.59}, {'connected_gene': 'ARNT', 'score': 61.4}, {'connected_gene': 'UBE2D3P3', 'score': 57.73}, {'connected_gene': 'GOLPH3L', 'score': 40.82}, {'connected_gene': 'RPRD2', 'score': 39.23}, {'connected_gene': 'HIST2H2AB', 'score': 30.05}, {'connected_gene': 'HIST2H2BD', 'score': 28.92}, {'connected_gene': 'HIST2H2BC', 'score': 26.85}, {'connected_gene': 'CTSK', 'score': 21.98}, {'connected_gene': 'LYSMD1', 'score': 14.28}, {'connected_gene': 'ADAMTSL4', 'score': 14.14}, {'connected_gene': 'VPS45', 'score': 13.84}, {'connected_gene': 'C1orf56', 'score': 13.32}, {'connected_gene': 'ENSG00000261716', 'score': 10.58}, {'connected_gene': 'APH1A', 'score': 10.13}, {'connected_gene': 'PRUNE1', 'score': 9.73}, {'connected_gene': 'MCL1', 'score': 9.71}, {'connected_gene': 'TARS2', 'score': 8.08}, {'connected_gene': 'GC01P150214', 'score': 0.34}]
chr1 GH01I150156 150156799 150167065 1.78 [{'connected_gene': 'LOC105371433', 'score': 550.77}, {'connected_gene': 'PLEKHO1', 'score': 14.52}, {'connected_gene': 'SV2A', 'score': 11.02}, {'connected_gene': 'MTMR11', 'score': 10.42}, {'connected_gene': 'CA14', 'score': 9.88}, {'connected_gene': 'MCL1', 'score': 9.28}, {'connected_gene': 'PRPF3', 'score': 7.71}, {'connected_gene': 'MRPS21', 'score': 5.5}, {'connected_gene': 'ANP32E', 'score': 5.39}, {'connected_gene': 'RPRD2', 'score': 5.35}, {'connected_gene': 'TNFAIP8L2', 'score': 5.28}, {'connected_gene': 'CTSS', 'score': 5.15}, {'connected_gene': 'C1orf56', 'score': 4.79}, {'connected_gene': 'SEMA6C', 'score': 4.21}, {'connected_gene': 'GC01P150114', 'score': 0.25}, {'connected_gene': 'GC01P150213', 'score': 0.25}]
chr1 GH01I150213 150213082 150214600 1.42 [{'connected_gene': 'GC01P150215', 'score': 550.77}, {'connected_gene': 'GC01P150214', 'score': 550.77}, {'connected_gene': 'SETDB1', 'score': 19.24}, {'connected_gene': 'SF3B4', 'score': 17.92}, {'connected_gene': 'ANP32E', 'score': 16.41}, {'connected_gene': 'PIP5K1A', 'score': 15.81}, {'connected_gene': 'PRPF3', 'score': 15.57}, {'connected_gene': 'RNU2-17P', 'score': 13.78}, {'connected_gene': 'ARNT', 'score': 12.82}, {'connected_gene': 'HIST2H2AB', 'score': 12.77}, {'connected_gene': 'UBE2D3P3', 'score': 11.81}, {'connected_gene': 'CIART', 'score': 11.6}, {'connected_gene': 'CA14', 'score': 11.46}, {'connected_gene': 'C1orf54', 'score': 10.84}, {'connected_gene': 'APH1A', 'score': 10.83}, {'connected_gene': 'PLEKHO1', 'score': 10.8}, {'connected_gene': 'MTMR11', 'score': 10.46}, {'connected_gene': 'HIST2H2BC', 'score': 9.99}, {'connected_gene': 'TARS2', 'score': 8.01}, {'connected_gene': 'RPRD2', 'score': 6.4}, {'connected_gene': 'MRPS21', 'score': 5.42}, {'connected_gene': 'GOLPH3L', 'score': 4.36}, {'connected_gene': 'HIST2H2AC', 'score': 1.94}, {'connected_gene': 'VPS45', 'score': 1.24}, {'connected_gene': 'RN7SL480P', 'score': 0.77}]
chr1 GH01I150626 150626916 150631826 2.58 [{'connected_gene': 'GC01P150630', 'score': 550.77}, {'connected_gene': 'ENSA', 'score': 550.77}, {'connected_gene': 'SETDB1', 'score': 58.5}, {'connected_gene': 'PIP5K1A', 'score': 50.75}, {'connected_gene': 'HORMAD1', 'score': 49.33}, {'connected_gene': 'ARNT', 'score': 39.58}, {'connected_gene': 'PRPF3', 'score': 39.38}, {'connected_gene': 'RPRD2', 'score': 36.62}, {'connected_gene': 'UBE2D3P3', 'score': 36.49}, {'connected_gene': 'SF3B4', 'score': 30.36}, {'connected_gene': 'GABPB2', 'score': 29.76}, {'connected_gene': 'PI4KB', 'score': 29.2}, {'connected_gene': 'ZNF687', 'score': 29.09}, {'connected_gene': 'POGZ', 'score': 24.41}, {'connected_gene': 'GOLPH3L', 'score': 23.29}, {'connected_gene': 'LYSMD1', 'score': 22.35}, {'connected_gene': 'CTSK', 'score': 22.34}, {'connected_gene': 'RPS10P6', 'score': 20.02}, {'connected_gene': 'RN7SL444P', 'score': 18.22}, {'connected_gene': 'MCL1', 'score': 15.03}, {'connected_gene': 'ADAMTSL4', 'score': 14.26}, {'connected_gene': 'VPS45', 'score': 13.76}, {'connected_gene': 'C1orf56', 'score': 13.34}, {'connected_gene': 'HIST2H2AB', 'score': 11.0}, {'connected_gene': 'HIST2H2BD', 'score': 10.23}, {'connected_gene': 'RNU6-1309P', 'score': 10.22}, {'connected_gene': 'PSMB4', 'score': 9.88}, {'connected_gene': 'PRUNE1', 'score': 9.75}, {'connected_gene': 'BNIPL', 'score': 7.48}, {'connected_gene': 'CTSS', 'score': 4.05}, {'connected_gene': 'CDC42SE1', 'score': 3.81}, {'connected_gene': 'PLEKHO1', 'score': 2.86}, {'connected_gene': 'MINDY1', 'score': 1.76}, {'connected_gene': 'ANP32E', 'score': 1.1}, {'connected_gene': 'ENSG00000276103', 'score': 0.34}]

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