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
ENST00000597629 [[39897452, 39897568], [39898382, 39900052]] [[39897526, 39897568], [39898382, 39899339]]
ENST00000248673 [[39897486, 39897568], [39898382, 39900045]] [[39897544, 39897568], [39898382, 39899339]]
ENST00000594045 [[39897496, 39897749], [39898382, 39898819]] [[39897526, 39897742]]
ENST00000594442 [[39897497, 39897572], [39898384, 39900008]] [[39897497, 39897572], [39898384, 39899339]]
ENST00000600033 [[39898078, 39898121], [39898382, 39898783]] [[39898078, 39898121], [39898382, 39898783]]
NM_003407 [[39897486, 39897568], [39898382, 39900052]] [[39897526, 39897568], [39898382, 39899339]]
Promoter
Chrom Start End Description
chr19 39897051 39897070 CAGE_peak_3_at_ZFP36_5end
chr19 39897478 39897493 CAGE_peak_1_at_ZFP36_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I039397 39397053 39417096 2.77 [{'connected_gene': 'ZFP36', 'score': 604.93}, {'connected_gene': 'PLEKHG2', 'score': 604.49}, {'connected_gene': 'HNRNPL', 'score': 222.03}, {'connected_gene': 'ZNF780B', 'score': 118.66}, {'connected_gene': 'FBL', 'score': 109.73}, {'connected_gene': 'ZNF780A', 'score': 91.93}, {'connected_gene': 'SUPT5H', 'score': 85.34}, {'connected_gene': 'AKT2', 'score': 84.39}, {'connected_gene': 'RN7SL566P', 'score': 83.85}, {'connected_gene': 'RPS16', 'score': 70.33}, {'connected_gene': 'ENSG00000269688', 'score': 69.37}, {'connected_gene': 'EID2B', 'score': 61.19}, {'connected_gene': 'PSMC4', 'score': 45.47}, {'connected_gene': 'PAK4', 'score': 43.29}, {'connected_gene': 'PAF1', 'score': 42.87}, {'connected_gene': 'ZNF546', 'score': 32.68}, {'connected_gene': 'EID2', 'score': 26.93}, {'connected_gene': 'ERVK9-11', 'score': 25.08}, {'connected_gene': 'ACTN4', 'score': 20.21}, {'connected_gene': 'FBXO17', 'score': 19.63}, {'connected_gene': 'MED29', 'score': 19.31}, {'connected_gene': 'ENSG00000268756', 'score': 18.24}, {'connected_gene': 'SAMD4B', 'score': 15.11}, {'connected_gene': 'ENSG00000267892', 'score': 13.48}, {'connected_gene': 'MAP4K1', 'score': 10.82}, {'connected_gene': 'CCER2', 'score': 10.75}, {'connected_gene': 'DLL3', 'score': 10.24}, {'connected_gene': 'GMFG', 'score': 8.04}, {'connected_gene': 'MIR4530', 'score': 0.77}, {'connected_gene': 'TRI-TAT1-1', 'score': 0.44}, {'connected_gene': 'GC19M039659', 'score': 0.44}, {'connected_gene': 'PIR31970', 'score': 0.44}, {'connected_gene': 'GC19M039723', 'score': 0.22}]
chr19 GH19I038506 38506632 38507904 1.09 [{'connected_gene': 'ZFP36', 'score': 4.44}, {'connected_gene': 'GC19P038502', 'score': 0.77}, {'connected_gene': 'ENSG00000269445', 'score': 0.34}, {'connected_gene': 'RYR1', 'score': 0.19}]
chr19 GH19I038806 38806985 38809170 0.94 [{'connected_gene': 'LGALS7B', 'score': 18.32}, {'connected_gene': 'LGALS7', 'score': 16.29}, {'connected_gene': 'ZFP36', 'score': 10.96}, {'connected_gene': 'RPS16', 'score': 10.37}, {'connected_gene': 'ECH1', 'score': 5.73}, {'connected_gene': 'GC19P038813', 'score': 0.77}, {'connected_gene': 'LGALS4', 'score': 0.44}, {'connected_gene': 'GC19M038798', 'score': 0.39}, {'connected_gene': 'RNU6-140P', 'score': 0.39}]
chr19 GH19I039552 39552201 39552779 1.01 [{'connected_gene': 'PLEKHG2', 'score': 22.89}, {'connected_gene': 'MED29', 'score': 18.77}, {'connected_gene': 'EID2B', 'score': 17.55}, {'connected_gene': 'SPTBN4', 'score': 13.96}, {'connected_gene': 'ZFP36', 'score': 12.0}, {'connected_gene': 'DLL3', 'score': 11.06}, {'connected_gene': 'TIMM50', 'score': 10.45}, {'connected_gene': 'EID2', 'score': 10.18}, {'connected_gene': 'RPS16', 'score': 7.16}, {'connected_gene': 'PAF1', 'score': 2.18}, {'connected_gene': 'LOC105372399', 'score': 0.44}, {'connected_gene': 'GC19P039533', 'score': 0.37}, {'connected_gene': 'ENSG00000269188', 'score': 0.29}]
chr19 GH19I039558 39557621 39559466 1.29 [{'connected_gene': 'PLEKHG2', 'score': 12.31}, {'connected_gene': 'EID2B', 'score': 11.25}, {'connected_gene': 'CLC', 'score': 10.8}, {'connected_gene': 'DLL3', 'score': 10.71}, {'connected_gene': 'LEUTX', 'score': 10.34}, {'connected_gene': 'MED29', 'score': 5.66}, {'connected_gene': 'LGALS4', 'score': 5.65}, {'connected_gene': 'RPS16', 'score': 4.52}, {'connected_gene': 'PAF1', 'score': 2.37}, {'connected_gene': 'ZFP36', 'score': 2.25}, {'connected_gene': 'EID2', 'score': 1.63}, {'connected_gene': 'LOC105372399', 'score': 0.39}, {'connected_gene': 'GC19P039533', 'score': 0.31}, {'connected_gene': 'ENSG00000269188', 'score': 0.31}]
chr19 GH19I039427 39427292 39437000 2.87 [{'connected_gene': 'RPS16', 'score': 623.68}, {'connected_gene': 'HNRNPL', 'score': 119.97}, {'connected_gene': 'FBL', 'score': 65.1}, {'connected_gene': 'ZNF780B', 'score': 61.93}, {'connected_gene': 'AKT2', 'score': 54.13}, {'connected_gene': 'PLEKHG2', 'score': 42.99}, {'connected_gene': 'RN7SL566P', 'score': 38.97}, {'connected_gene': 'SUPT5H', 'score': 35.73}, {'connected_gene': 'ENSG00000269688', 'score': 34.37}, {'connected_gene': 'EID2B', 'score': 30.0}, {'connected_gene': 'ZNF780A', 'score': 29.57}, {'connected_gene': 'SAMD4B', 'score': 21.2}, {'connected_gene': 'ZNF546', 'score': 20.61}, {'connected_gene': 'ACTN4', 'score': 20.21}, {'connected_gene': 'PSMC4', 'score': 20.13}, {'connected_gene': 'ENSG00000268756', 'score': 18.23}, {'connected_gene': 'PAF1', 'score': 13.7}, {'connected_gene': 'FBXO17', 'score': 11.85}, {'connected_gene': 'ZFP36', 'score': 11.24}, {'connected_gene': 'PAK4', 'score': 10.55}, {'connected_gene': 'EID2', 'score': 10.37}, {'connected_gene': 'MED29', 'score': 8.23}, {'connected_gene': 'GMFG', 'score': 3.68}, {'connected_gene': 'GC19M039660', 'score': 0.77}, {'connected_gene': 'GC19M039658', 'score': 0.77}, {'connected_gene': 'GC19P039427', 'score': 0.44}, {'connected_gene': 'GC19M039723', 'score': 0.29}]
chr19 GH19I039320 39320400 39321201 1.49 [{'connected_gene': 'LRFN1', 'score': 557.68}, {'connected_gene': 'ENSG00000268262', 'score': 550.77}, {'connected_gene': 'HNRNPL', 'score': 44.94}, {'connected_gene': 'SUPT5H', 'score': 38.78}, {'connected_gene': 'ZNF780B', 'score': 31.48}, {'connected_gene': 'PAK4', 'score': 29.41}, {'connected_gene': 'ZNF780A', 'score': 22.63}, {'connected_gene': 'ZNF546', 'score': 22.54}, {'connected_gene': 'FBL', 'score': 22.19}, {'connected_gene': 'FBXO17', 'score': 19.92}, {'connected_gene': 'ENSG00000269688', 'score': 13.34}, {'connected_gene': 'ZFP36', 'score': 12.34}, {'connected_gene': 'RN7SL566P', 'score': 12.28}, {'connected_gene': 'PAF1', 'score': 11.96}, {'connected_gene': 'PLEKHG2', 'score': 11.24}, {'connected_gene': 'AKT2', 'score': 11.2}, {'connected_gene': 'RPS16', 'score': 11.08}, {'connected_gene': 'ACTN4', 'score': 10.11}, {'connected_gene': 'ENSG00000268756', 'score': 10.07}, {'connected_gene': 'GC19M039741', 'score': 0.39}, {'connected_gene': 'GC19P039283', 'score': 0.28}]
chr19 GH19I039351 39351208 39353591 1.48 [{'connected_gene': 'SAMD4B', 'score': 556.19}, {'connected_gene': 'RPS16', 'score': 11.3}, {'connected_gene': 'SUPT5H', 'score': 11.3}, {'connected_gene': 'ZFP36', 'score': 11.1}, {'connected_gene': 'PLEKHG2', 'score': 11.08}, {'connected_gene': 'PAK4', 'score': 11.07}, {'connected_gene': 'IFNL1', 'score': 10.86}, {'connected_gene': 'EID2B', 'score': 10.33}, {'connected_gene': 'GMFG', 'score': 5.2}, {'connected_gene': 'GC19P039349', 'score': 0.77}, {'connected_gene': 'RN7SL566P', 'score': 0.37}]
chr19 GH19I038924 38924109 38925708 0.6 [{'connected_gene': 'SARS2', 'score': 31.61}, {'connected_gene': 'ENSG00000267892', 'score': 6.64}, {'connected_gene': 'NFKBIB', 'score': 3.3}, {'connected_gene': 'ZFP36', 'score': 2.77}, {'connected_gene': 'MAP4K1', 'score': 1.69}, {'connected_gene': 'HNRNPL', 'score': 1.45}, {'connected_gene': 'MRPS12', 'score': 0.44}, {'connected_gene': 'CCER2', 'score': 0.39}, {'connected_gene': 'ENSG00000269547', 'score': 0.34}]
chr19 GH19I039347 39347060 39348313 0.72 [{'connected_gene': 'PAF1', 'score': 12.26}, {'connected_gene': 'MED29', 'score': 12.26}, {'connected_gene': 'ZFP36', 'score': 11.25}, {'connected_gene': 'PLEKHG2', 'score': 11.24}, {'connected_gene': 'DLL3', 'score': 10.93}, {'connected_gene': 'IFNL1', 'score': 10.89}, {'connected_gene': 'PAK4', 'score': 10.78}, {'connected_gene': 'EID2B', 'score': 10.4}, {'connected_gene': 'GC19P039349', 'score': 0.77}, {'connected_gene': 'SAMD4B', 'score': 0.44}]
chr19 GH19I039676 39676081 39676230 1.17 [{'connected_gene': 'LEUTX', 'score': 11.25}, {'connected_gene': 'FBL', 'score': 11.15}, {'connected_gene': 'CLC', 'score': 10.86}, {'connected_gene': 'EID2B', 'score': 10.73}, {'connected_gene': 'PLEKHG2', 'score': 10.2}, {'connected_gene': 'MED29', 'score': 3.63}, {'connected_gene': 'ZFP36', 'score': 1.88}, {'connected_gene': 'PAF1', 'score': 1.79}, {'connected_gene': 'LGALS17A', 'score': 0.77}, {'connected_gene': 'LGALS16', 'score': 0.34}]
chr19 GH19I038846 38846884 38853492 2.35 [{'connected_gene': 'HNRNPL', 'score': 659.41}, {'connected_gene': 'FBL', 'score': 61.67}, {'connected_gene': 'ENSG00000269688', 'score': 31.64}, {'connected_gene': 'PLEKHG2', 'score': 31.13}, {'connected_gene': 'RN7SL566P', 'score': 30.56}, {'connected_gene': 'RPS16', 'score': 27.57}, {'connected_gene': 'PAK4', 'score': 24.03}, {'connected_gene': 'PAF1', 'score': 21.35}, {'connected_gene': 'SUPT5H', 'score': 20.51}, {'connected_gene': 'ENSG00000267892', 'score': 13.58}, {'connected_gene': 'EID2B', 'score': 13.55}, {'connected_gene': 'LOC100631378', 'score': 13.06}, {'connected_gene': 'LGALS7', 'score': 11.73}, {'connected_gene': 'ZFP36', 'score': 10.96}, {'connected_gene': 'ENSG00000268756', 'score': 10.34}, {'connected_gene': 'RINL', 'score': 10.22}, {'connected_gene': 'ACTN4', 'score': 10.16}, {'connected_gene': 'SAMD4B', 'score': 10.08}, {'connected_gene': 'FBXO17', 'score': 9.91}, {'connected_gene': 'LGALS4', 'score': 5.22}]
chr19 GH19I039264 39264536 39264758 0.35 [{'connected_gene': 'IFNL2', 'score': 550.77}, {'connected_gene': 'IFNL4P1', 'score': 550.77}, {'connected_gene': 'ZFP36', 'score': 3.94}, {'connected_gene': 'GC19M039740', 'score': 0.26}]
chr19 GH19I039073 39073064 39074822 1.63 [{'connected_gene': 'ZNF780B', 'score': 56.59}, {'connected_gene': 'HNRNPL', 'score': 45.83}, {'connected_gene': 'SUPT5H', 'score': 42.91}, {'connected_gene': 'EID2B', 'score': 33.46}, {'connected_gene': 'PAF1', 'score': 32.94}, {'connected_gene': 'ZNF546', 'score': 24.15}, {'connected_gene': 'PAK4', 'score': 22.26}, {'connected_gene': 'FBL', 'score': 22.19}, {'connected_gene': 'MED29', 'score': 15.33}, {'connected_gene': 'ACP7', 'score': 14.1}, {'connected_gene': 'ENSG00000269688', 'score': 13.37}, {'connected_gene': 'RN7SL566P', 'score': 12.09}, {'connected_gene': 'DPF1', 'score': 12.01}, {'connected_gene': 'ERVK9-11', 'score': 11.68}, {'connected_gene': 'FBXO27', 'score': 11.52}, {'connected_gene': 'PLEKHG2', 'score': 11.14}, {'connected_gene': 'RPS16', 'score': 11.01}, {'connected_gene': 'ACTN4', 'score': 10.12}, {'connected_gene': 'ENSG00000268756', 'score': 10.11}, {'connected_gene': 'SAMD4B', 'score': 10.11}, {'connected_gene': 'EID2', 'score': 10.1}, {'connected_gene': 'PSMC4', 'score': 10.0}, {'connected_gene': 'FBXO17', 'score': 9.93}, {'connected_gene': 'SARS2', 'score': 4.7}, {'connected_gene': 'ZFP36', 'score': 4.61}, {'connected_gene': 'NFKBIB', 'score': 1.55}, {'connected_gene': 'GC19P039085', 'score': 0.44}, {'connected_gene': 'GC19M039038', 'score': 0.29}]
chr19 GH19I039557 39557381 39557620 0.68 [{'connected_gene': 'ZNF780B', 'score': 15.15}, {'connected_gene': 'EID2B', 'score': 11.28}, {'connected_gene': 'CLC', 'score': 10.79}, {'connected_gene': 'DLL3', 'score': 10.71}, {'connected_gene': 'LEUTX', 'score': 10.34}, {'connected_gene': 'PLEKHG2', 'score': 8.11}, {'connected_gene': 'MED29', 'score': 4.15}, {'connected_gene': 'PAF1', 'score': 1.83}, {'connected_gene': 'ZFP36', 'score': 1.77}, {'connected_gene': 'LOC105372399', 'score': 0.39}, {'connected_gene': 'GC19P039533', 'score': 0.34}, {'connected_gene': 'ENSG00000269188', 'score': 0.31}]
chr19 GH19I039568 39568721 39568870 0.77 [{'connected_gene': 'EID2B', 'score': 21.19}, {'connected_gene': 'ZNF780B', 'score': 14.84}, {'connected_gene': 'EID2', 'score': 11.21}, {'connected_gene': 'DLL3', 'score': 10.71}, {'connected_gene': 'CLC', 'score': 10.46}, {'connected_gene': 'PLEKHG2', 'score': 7.87}, {'connected_gene': 'MED29', 'score': 3.35}, {'connected_gene': 'ZFP36', 'score': 2.2}, {'connected_gene': 'PAF1', 'score': 1.61}, {'connected_gene': 'ENSG00000269188', 'score': 0.37}, {'connected_gene': 'LOC105372399', 'score': 0.34}, {'connected_gene': 'GC19P039533', 'score': 0.28}]
chr19 GH19I039563 39563484 39563653 0.71 [{'connected_gene': 'EID2B', 'score': 11.23}, {'connected_gene': 'EID2', 'score': 11.09}, {'connected_gene': 'CLC', 'score': 10.9}, {'connected_gene': 'DLL3', 'score': 10.7}, {'connected_gene': 'PLEKHG2', 'score': 10.65}, {'connected_gene': 'LEUTX', 'score': 10.34}, {'connected_gene': 'FBL', 'score': 10.33}, {'connected_gene': 'MED29', 'score': 5.35}, {'connected_gene': 'PAF1', 'score': 2.18}, {'connected_gene': 'ZFP36', 'score': 2.14}, {'connected_gene': 'LOC105372399', 'score': 0.37}, {'connected_gene': 'ENSG00000269188', 'score': 0.34}, {'connected_gene': 'GC19P039533', 'score': 0.29}]
chr19 GH19I039551 39551541 39551690 0.71 [{'connected_gene': 'DLL3', 'score': 11.06}, {'connected_gene': 'TIMM50', 'score': 10.45}, {'connected_gene': 'PLEKHG2', 'score': 9.91}, {'connected_gene': 'ZFP36', 'score': 9.9}, {'connected_gene': 'LOC105372399', 'score': 0.77}, {'connected_gene': 'GC19P039533', 'score': 0.37}, {'connected_gene': 'ENSG00000269188', 'score': 0.29}]
chr19 GH19I039348 39348318 39349923 0.57 [{'connected_gene': 'GC19P039349', 'score': 550.77}, {'connected_gene': 'PAF1', 'score': 12.26}, {'connected_gene': 'MED29', 'score': 12.26}, {'connected_gene': 'ZFP36', 'score': 11.25}, {'connected_gene': 'PLEKHG2', 'score': 11.24}, {'connected_gene': 'DLL3', 'score': 10.93}, {'connected_gene': 'PAK4', 'score': 10.42}, {'connected_gene': 'EID2B', 'score': 10.22}, {'connected_gene': 'SAMD4B', 'score': 5.16}]

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