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
ENST00000574327 [[635651, 636421], [643744, 643826]] [[635887, 636337]]
ENST00000308278 [[635651, 636009], [636337, 636421], [641085, 641287], [643744, 643840], [644540, 646206]] [[635887, 636009], [636337, 636421], [641085, 641287], [643744, 643840], [644540, 644810]]
ENST00000572018 [[635785, 636009], [636337, 636421], [644540, 644605]] [[635887, 636009], [636337, 636421], [644540, 644544]]
ENST00000301324 [[635823, 636009], [636337, 636421], [641085, 641287], [644540, 646081]] [[635887, 636009], [636337, 636421], [641085, 641287], [644540, 644810]]
ENST00000570699 [[635916, 636421], [641085, 641287], [643744, 643840], [644540, 646123]] [[635995, 636337]]
ENST00000577008 [[636364, 636421], [643744, 643840], [644540, 645254]] [[636364, 636421], [643744, 643802]]
ENST00000570892 [[644903, 645292], [645836, 646124]] None
NM_001318008 [[635785, 636009], [636337, 636421], [644540, 646208]] [[635887, 636009], [636337, 636421], [644540, 644544]]
NM_001318007 [[635785, 636009], [636337, 636421], [643744, 643840], [644540, 646208]] [[635887, 636009], [636337, 636421], [643744, 643802]]
NM_001318006 [[635785, 636009], [636337, 636421], [641085, 641287], [644540, 646208]] [[635887, 636009], [636337, 636421], [641085, 641287], [644540, 644810]]
NM_024792 [[635785, 636009], [636337, 636421], [641085, 641287], [643744, 643840], [644540, 646208]] [[635887, 636009], [636337, 636421], [641085, 641287], [643744, 643840], [644540, 644810]]
Promoter
Chrom Start End Description
chr17 635682 635768 CAGE_peak_2_at_FAM57A_5end
chr17 635801 635856 CAGE_peak_1_at_FAM57A_5end
chr17 635911 635922 CAGE_peak_5_at_FAM57A_5end
chr17 636110 636134 CAGE_peak_3_at_FAM57A_5end
chr17 643754 643786 CAGE_peak_12_at_FAM57A_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I000226 226484 228099 0.38 [{'connected_gene': 'RPH3AL', 'score': 14.31}, {'connected_gene': 'DOC2B', 'score': 11.95}, {'connected_gene': 'FAM57A', 'score': 11.16}, {'connected_gene': 'GC17M000217', 'score': 0.77}, {'connected_gene': 'GC17P000246', 'score': 0.37}]
chr17 GH17I000348 348642 355491 2.17 [{'connected_gene': 'RPH3AL', 'score': 584.35}, {'connected_gene': 'ENSG00000262294', 'score': 568.38}, {'connected_gene': 'GEMIN4', 'score': 15.4}, {'connected_gene': 'NXN', 'score': 10.79}, {'connected_gene': 'FAM57A', 'score': 10.22}, {'connected_gene': 'LOC100506388', 'score': 8.27}, {'connected_gene': 'ENSG00000262558', 'score': 7.62}, {'connected_gene': 'LOC105371432', 'score': 0.77}, {'connected_gene': 'LOC105371425', 'score': 0.39}, {'connected_gene': 'GC17M000276', 'score': 0.29}]
chr17 GH17I000232 232601 235199 1.01 [{'connected_gene': 'DOC2B', 'score': 18.49}, {'connected_gene': 'FAM57A', 'score': 11.17}, {'connected_gene': 'RPH3AL', 'score': 10.68}, {'connected_gene': 'TIMM22', 'score': 9.88}, {'connected_gene': 'MRM3', 'score': 5.29}, {'connected_gene': 'GC17M000217', 'score': 0.44}, {'connected_gene': 'GC17P000246', 'score': 0.39}]
chr17 GH17I000728 728144 734137 2.14 [{'connected_gene': 'FAM57A', 'score': 600.34}, {'connected_gene': 'GC17M000727', 'score': 550.77}, {'connected_gene': 'VPS53', 'score': 18.31}, {'connected_gene': 'MRM3', 'score': 12.58}, {'connected_gene': 'GEMIN4', 'score': 8.02}]
chr17 GH17I000773 773520 774614 0.49 [{'connected_gene': 'FAM57A', 'score': 10.21}, {'connected_gene': 'TIMM22', 'score': 10.2}, {'connected_gene': 'DBIL5P', 'score': 8.82}, {'connected_gene': 'GLOD4', 'score': 0.44}, {'connected_gene': 'ENSG00000262228', 'score': 0.44}, {'connected_gene': 'MRM3', 'score': 0.44}]
chr17 GH17I000914 914376 918649 1.35 [{'connected_gene': 'NXN', 'score': 6.42}, {'connected_gene': 'FAM57A', 'score': 1.29}, {'connected_gene': 'PIR40960', 'score': 0.77}, {'connected_gene': 'LOC101927727', 'score': 0.44}, {'connected_gene': 'GC17P000910', 'score': 0.44}]
chr17 GH17I000689 689401 696604 1.44 [{'connected_gene': 'VPS53', 'score': 28.12}, {'connected_gene': 'FAM57A', 'score': 23.83}, {'connected_gene': 'C17orf97', 'score': 11.76}, {'connected_gene': 'RFLNB', 'score': 11.3}, {'connected_gene': 'DOC2B', 'score': 10.4}, {'connected_gene': 'TIMM22', 'score': 10.12}, {'connected_gene': 'GEMIN4', 'score': 5.94}, {'connected_gene': 'ENSG00000263015', 'score': 4.98}, {'connected_gene': 'GC17M000676', 'score': 0.39}, {'connected_gene': 'GC17P000714', 'score': 0.34}]
chr17 GH17I000703 703217 705084 0.43 [{'connected_gene': 'VPS53', 'score': 39.85}, {'connected_gene': 'FAM57A', 'score': 12.45}, {'connected_gene': 'C17orf97', 'score': 11.53}, {'connected_gene': 'RFLNB', 'score': 10.75}, {'connected_gene': 'GLOD4', 'score': 10.52}, {'connected_gene': 'DOC2B', 'score': 10.32}, {'connected_gene': 'MRM3', 'score': 10.08}, {'connected_gene': 'GEMIN4', 'score': 6.01}, {'connected_gene': 'GC17P000714', 'score': 0.39}, {'connected_gene': 'GC17M000676', 'score': 0.31}]
chr17 GH17I000705 705626 706726 0.2 [{'connected_gene': 'VPS53', 'score': 28.61}, {'connected_gene': 'FAM57A', 'score': 22.91}, {'connected_gene': 'C17orf97', 'score': 11.53}, {'connected_gene': 'RFLNB', 'score': 10.74}, {'connected_gene': 'GLOD4', 'score': 10.52}, {'connected_gene': 'DOC2B', 'score': 10.32}, {'connected_gene': 'MRM3', 'score': 10.08}, {'connected_gene': 'GC17P000714', 'score': 0.44}, {'connected_gene': 'GC17M000676', 'score': 0.31}]
chr17 GH17I000713 713945 717167 2.05 [{'connected_gene': 'VPS53', 'score': 591.04}, {'connected_gene': 'GC17P000714', 'score': 550.77}, {'connected_gene': 'FAM57A', 'score': 12.54}, {'connected_gene': 'DBIL5P', 'score': 11.3}, {'connected_gene': 'TIMM22', 'score': 10.62}, {'connected_gene': 'GLOD4', 'score': 10.34}, {'connected_gene': 'NXN', 'score': 10.18}, {'connected_gene': 'GEMIN4', 'score': 6.16}]
chr17 GH17I000699 699224 700049 0.43 [{'connected_gene': 'VPS53', 'score': 28.74}, {'connected_gene': 'C17orf97', 'score': 12.24}, {'connected_gene': 'FAM57A', 'score': 11.69}, {'connected_gene': 'RFLNB', 'score': 11.43}, {'connected_gene': 'GLOD4', 'score': 10.2}, {'connected_gene': 'NXN', 'score': 9.98}, {'connected_gene': 'GC17P000714', 'score': 0.37}, {'connected_gene': 'GC17M000676', 'score': 0.34}]
chr17 GH17I000548 548308 552033 0.86 [{'connected_gene': 'VPS53', 'score': 25.42}, {'connected_gene': 'RFLNB', 'score': 8.71}, {'connected_gene': 'ENSG00000263015', 'score': 5.95}, {'connected_gene': 'FAM57A', 'score': 5.14}, {'connected_gene': 'ENSG00000262228', 'score': 4.88}, {'connected_gene': 'C17orf97', 'score': 4.75}, {'connected_gene': 'ENSG00000262905', 'score': 0.77}, {'connected_gene': 'GC17M000536', 'score': 0.39}]
chr17 GH17I000599 599974 604049 1.46 [{'connected_gene': 'VPS53', 'score': 34.93}, {'connected_gene': 'RFLNB', 'score': 17.53}, {'connected_gene': 'LOC105371430', 'score': 11.9}, {'connected_gene': 'C17orf97', 'score': 11.77}, {'connected_gene': 'FAM57A', 'score': 11.44}, {'connected_gene': 'GEMIN4', 'score': 6.19}, {'connected_gene': 'GC17P000599', 'score': 0.77}, {'connected_gene': 'GC17M000605', 'score': 0.39}]
chr17 GH17I000737 737201 738497 0.31 [{'connected_gene': 'MRM3', 'score': 20.41}, {'connected_gene': 'DBIL5P', 'score': 13.91}, {'connected_gene': 'GLOD4', 'score': 11.25}, {'connected_gene': 'NXN', 'score': 11.17}, {'connected_gene': 'TIMM22', 'score': 10.39}, {'connected_gene': 'FAM57A', 'score': 8.15}, {'connected_gene': 'GEMIN4', 'score': 7.64}, {'connected_gene': 'ENSG00000262228', 'score': 7.56}, {'connected_gene': 'GC17M000743', 'score': 0.77}, {'connected_gene': 'PIR59934', 'score': 0.77}]
chr17 GH17I000298 298490 299720 0.58 [{'connected_gene': 'GEMIN4', 'score': 15.4}, {'connected_gene': 'NXN', 'score': 10.79}, {'connected_gene': 'FAM57A', 'score': 10.21}, {'connected_gene': 'PIR56598', 'score': 0.44}, {'connected_gene': 'PIR31127', 'score': 0.39}, {'connected_gene': 'GC17M000276', 'score': 0.18}, {'connected_gene': 'RPH3AL', 'score': 0.17}]
chr17 GH17I000754 754249 754384 0.31 [{'connected_gene': 'GEMIN4', 'score': 550.77}, {'connected_gene': 'DBIL5P', 'score': 550.77}, {'connected_gene': 'FAM57A', 'score': 11.59}, {'connected_gene': 'GLOD4', 'score': 11.3}, {'connected_gene': 'MRM3', 'score': 11.3}, {'connected_gene': 'TIMM22', 'score': 10.49}, {'connected_gene': 'GC17M000760', 'score': 0.44}, {'connected_gene': 'GC17M000759', 'score': 0.44}]
chr17 GH17I000750 750583 754070 2.03 [{'connected_gene': 'GEMIN4', 'score': 568.26}, {'connected_gene': 'DBIL5P', 'score': 564.12}, {'connected_gene': 'PIR42448', 'score': 550.77}, {'connected_gene': 'PRPF8', 'score': 34.05}, {'connected_gene': 'FAM57A', 'score': 22.46}, {'connected_gene': 'MRM3', 'score': 16.61}, {'connected_gene': 'WDR81', 'score': 14.01}, {'connected_gene': 'GLOD4', 'score': 11.48}, {'connected_gene': 'VPS53', 'score': 10.96}, {'connected_gene': 'ENSG00000262920', 'score': 10.49}, {'connected_gene': 'TIMM22', 'score': 10.49}, {'connected_gene': 'ENSG00000262777', 'score': 10.03}]
chr17 GH17I000996 996161 998331 2.12 [{'connected_gene': 'TIMM22', 'score': 568.7}, {'connected_gene': 'MYO1C', 'score': 13.29}, {'connected_gene': 'RPA1', 'score': 11.04}, {'connected_gene': 'FAM57A', 'score': 10.59}, {'connected_gene': 'ENSG00000262228', 'score': 10.09}, {'connected_gene': 'GEMIN4', 'score': 10.01}, {'connected_gene': 'PRPF8', 'score': 9.97}, {'connected_gene': 'GC17P001008', 'score': 0.39}]
chr17 GH17I001413 1413055 1414076 1.15 [{'connected_gene': 'PRPF8', 'score': 22.92}, {'connected_gene': 'RPA1', 'score': 22.57}, {'connected_gene': 'SMYD4', 'score': 16.91}, {'connected_gene': 'SMG6', 'score': 13.96}, {'connected_gene': 'WDR81', 'score': 13.17}, {'connected_gene': 'GEMIN4', 'score': 10.96}, {'connected_gene': 'HIC1', 'score': 10.6}, {'connected_gene': 'FAM57A', 'score': 10.55}, {'connected_gene': 'MYO1C', 'score': 10.17}, {'connected_gene': 'CRK', 'score': 9.93}, {'connected_gene': 'GC17M001417', 'score': 0.44}, {'connected_gene': 'GC17P001403', 'score': 0.44}]
chr17 GH17I001114 1114201 1116772 1.46 [{'connected_gene': 'PRPF8', 'score': 45.02}, {'connected_gene': 'SMYD4', 'score': 36.72}, {'connected_gene': 'RPA1', 'score': 33.37}, {'connected_gene': 'DPH1', 'score': 29.73}, {'connected_gene': 'GEMIN4', 'score': 24.4}, {'connected_gene': 'WDR81', 'score': 20.06}, {'connected_gene': 'NXN', 'score': 10.88}, {'connected_gene': 'FAM57A', 'score': 10.22}, {'connected_gene': 'ENSG00000278794', 'score': 0.39}, {'connected_gene': 'LOC105371480', 'score': 0.28}, {'connected_gene': 'ABR', 'score': 0.14}]
chr17 GH17I001293 1293651 1293736 1.2 [{'connected_gene': 'PRPF8', 'score': 139.44}, {'connected_gene': 'SMYD4', 'score': 136.53}, {'connected_gene': 'RPA1', 'score': 93.22}, {'connected_gene': 'WDR81', 'score': 68.81}, {'connected_gene': 'GEMIN4', 'score': 65.69}, {'connected_gene': 'DPH1', 'score': 64.29}, {'connected_gene': 'ENSG00000263050', 'score': 47.62}, {'connected_gene': 'ENSG00000262228', 'score': 36.17}, {'connected_gene': 'MYO1C', 'score': 19.75}, {'connected_gene': 'HIC1', 'score': 19.25}, {'connected_gene': 'CRK', 'score': 18.61}, {'connected_gene': 'ENSG00000262434', 'score': 12.78}, {'connected_gene': 'DBIL5P', 'score': 11.06}, {'connected_gene': 'FAM57A', 'score': 10.55}, {'connected_gene': 'ENSG00000262920', 'score': 9.91}, {'connected_gene': 'GC17P001285', 'score': 0.44}, {'connected_gene': 'TUSC5', 'score': 0.39}, {'connected_gene': 'GC17M001298', 'score': 0.34}]
chr17 GH17I001294 1293741 1294956 1.39 [{'connected_gene': 'PRPF8', 'score': 139.44}, {'connected_gene': 'SMYD4', 'score': 136.53}, {'connected_gene': 'RPA1', 'score': 93.22}, {'connected_gene': 'WDR81', 'score': 68.81}, {'connected_gene': 'GEMIN4', 'score': 65.69}, {'connected_gene': 'DPH1', 'score': 64.29}, {'connected_gene': 'ENSG00000263050', 'score': 47.62}, {'connected_gene': 'ENSG00000262228', 'score': 36.17}, {'connected_gene': 'CRK', 'score': 22.71}, {'connected_gene': 'MYO1C', 'score': 19.75}, {'connected_gene': 'HIC1', 'score': 19.25}, {'connected_gene': 'ENSG00000262434', 'score': 12.78}, {'connected_gene': 'DBIL5P', 'score': 11.06}, {'connected_gene': 'FAM57A', 'score': 10.55}, {'connected_gene': 'ENSG00000262920', 'score': 9.91}, {'connected_gene': 'SERPINF2', 'score': 3.56}, {'connected_gene': 'BHLHA9', 'score': 1.58}, {'connected_gene': 'GC17P001285', 'score': 0.44}, {'connected_gene': 'TUSC5', 'score': 0.39}, {'connected_gene': 'GC17M001298', 'score': 0.34}]
chr17 GH17I001258 1258607 1260399 1.21 [{'connected_gene': 'PRPF8', 'score': 75.66}, {'connected_gene': 'SMYD4', 'score': 59.89}, {'connected_gene': 'WDR81', 'score': 54.89}, {'connected_gene': 'RPA1', 'score': 44.18}, {'connected_gene': 'GEMIN4', 'score': 39.42}, {'connected_gene': 'ENSG00000262228', 'score': 26.73}, {'connected_gene': 'DPH1', 'score': 21.35}, {'connected_gene': 'ENSG00000262920', 'score': 20.59}, {'connected_gene': 'MYO1C', 'score': 19.74}, {'connected_gene': 'HIC1', 'score': 19.25}, {'connected_gene': 'TUSC5', 'score': 12.56}, {'connected_gene': 'ABR', 'score': 10.91}, {'connected_gene': 'ENSG00000235361', 'score': 10.8}, {'connected_gene': 'ENSG00000263050', 'score': 10.66}, {'connected_gene': 'FAM57A', 'score': 10.55}, {'connected_gene': 'GC17M001262', 'score': 0.77}, {'connected_gene': 'ENSG00000262213', 'score': 0.44}]
chr17 GH17I000330 330744 340492 1.59 [{'connected_gene': 'LOC100506388', 'score': 37.74}, {'connected_gene': 'GEMIN4', 'score': 15.4}, {'connected_gene': 'NXN', 'score': 10.79}, {'connected_gene': 'FAM57A', 'score': 10.22}, {'connected_gene': 'MRM3', 'score': 1.26}, {'connected_gene': 'GC17P000332', 'score': 0.77}, {'connected_gene': 'LOC105371425', 'score': 0.77}, {'connected_gene': 'GC17M000276', 'score': 0.25}, {'connected_gene': 'RPH3AL', 'score': 0.23}]
chr17 GH17I000794 794461 796310 1.17 [{'connected_gene': 'ENSG00000277491', 'score': 550.77}, {'connected_gene': 'GC17P000796', 'score': 550.77}, {'connected_gene': 'FAM57A', 'score': 14.12}, {'connected_gene': 'VPS53', 'score': 13.4}, {'connected_gene': 'NXN', 'score': 11.44}, {'connected_gene': 'TIMM22', 'score': 11.03}, {'connected_gene': 'GEMIN4', 'score': 8.19}, {'connected_gene': 'MRM3', 'score': 7.24}, {'connected_gene': 'DBIL5P', 'score': 5.67}]
chr17 GH17I000739 739654 741000 0.94 [{'connected_gene': 'GC17M000743', 'score': 550.77}, {'connected_gene': 'PIR59934', 'score': 550.77}, {'connected_gene': 'FAM57A', 'score': 22.6}, {'connected_gene': 'VPS53', 'score': 13.47}, {'connected_gene': 'MRM3', 'score': 9.52}, {'connected_gene': 'ENSG00000262228', 'score': 7.6}]

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