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
ENST00000576988 [[5389604, 5389740], [5392142, 5392557]] [[5392182, 5392557]]
ENST00000576570 [[5389704, 5390004], [5390876, 5391014], [5391515, 5391909], [5392142, 5392255]] [[5392182, 5392255]]
ENST00000573759 [[5389715, 5390004], [5392142, 5394057]] [[5392182, 5392800]]
ENST00000574186 [[5389896, 5390004], [5390320, 5390479]] None
ENST00000381165 [[5390246, 5390365], [5391515, 5391909], [5392142, 5394134]] [[5392182, 5392800]]
NM_001258220 [[5389693, 5389740], [5392142, 5394131]] [[5392182, 5392800]]
NM_001258219 [[5389693, 5389740], [5391515, 5391909], [5392142, 5394131]] [[5392182, 5392800]]
NM_001258218 [[5389693, 5390004], [5392142, 5394131]] [[5392182, 5392800]]
NM_001258217 [[5389693, 5390004], [5391515, 5391909], [5392142, 5394131]] [[5392182, 5392800]]
NM_024039 [[5390212, 5390365], [5391515, 5391909], [5392142, 5394131]] [[5392182, 5392800]]
Promoter
Chrom Start End Description
chr17 5389690 5389719 CAGE_peak_5_at_MIS12_5end
chr17 5389829 5389870 CAGE_peak_2_at_MIS12_5end
chr17 5389876 5389920 CAGE_peak_1_at_MIS12_5end
chr17 5390176 5390218 CAGE_peak_3_at_MIS12_5end
chr17 5390220 5390244 CAGE_peak_4_at_MIS12_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I004965 4965941 4971291 2.3 [{'connected_gene': 'SPAG7', 'score': 586.94}, {'connected_gene': 'ENSG00000262429', 'score': 550.77}, {'connected_gene': 'MIR6864', 'score': 550.77}, {'connected_gene': 'MIR6865', 'score': 550.77}, {'connected_gene': 'PIR49988', 'score': 550.77}, {'connected_gene': 'ZNF232', 'score': 44.19}, {'connected_gene': 'NUP88', 'score': 35.27}, {'connected_gene': 'MIS12', 'score': 27.11}, {'connected_gene': 'INCA1', 'score': 23.43}, {'connected_gene': 'CHRNE', 'score': 22.94}, {'connected_gene': 'ZZEF1', 'score': 20.65}, {'connected_gene': 'ANKFY1', 'score': 20.12}, {'connected_gene': 'RPAIN', 'score': 20.02}, {'connected_gene': 'DHX33', 'score': 19.17}, {'connected_gene': 'KIF1C', 'score': 19.13}, {'connected_gene': 'LOC101927979', 'score': 18.94}, {'connected_gene': 'CAMTA2', 'score': 12.91}, {'connected_gene': 'SLC25A11', 'score': 12.31}, {'connected_gene': 'RNF167', 'score': 12.31}, {'connected_gene': 'LOC100130950', 'score': 11.55}, {'connected_gene': 'DERL2', 'score': 10.72}, {'connected_gene': 'ENSG00000262678', 'score': 10.43}, {'connected_gene': 'ENSG00000263272', 'score': 10.06}, {'connected_gene': 'MYBBP1A', 'score': 9.96}]
chr17 GH17I005508 5508852 5510374 0.82 [{'connected_gene': 'USP6', 'score': 38.98}, {'connected_gene': 'RABEP1', 'score': 10.01}, {'connected_gene': 'MIS12', 'score': 7.87}, {'connected_gene': 'SCIMP', 'score': 5.73}, {'connected_gene': 'NUP88', 'score': 4.85}, {'connected_gene': 'LOC101928044', 'score': 0.77}, {'connected_gene': 'LOC728392', 'score': 0.44}, {'connected_gene': 'GC17M005386', 'score': 0.15}, {'connected_gene': 'NLRP1', 'score': 0.14}]
chr17 GH17I005191 5191000 5192801 2.05 [{'connected_gene': 'ZNF594', 'score': 583.09}, {'connected_gene': 'LOC100130950', 'score': 581.18}, {'connected_gene': 'LOC101927979', 'score': 35.52}, {'connected_gene': 'RPAIN', 'score': 31.46}, {'connected_gene': 'ZNF232', 'score': 27.75}, {'connected_gene': 'ANKFY1', 'score': 23.17}, {'connected_gene': 'MIS12', 'score': 22.4}, {'connected_gene': 'PELP1', 'score': 19.17}, {'connected_gene': 'RABEP1', 'score': 13.36}, {'connected_gene': 'DERL2', 'score': 12.72}, {'connected_gene': 'NUP88', 'score': 11.42}, {'connected_gene': 'DHX33', 'score': 10.93}, {'connected_gene': 'INCA1', 'score': 10.76}, {'connected_gene': 'MYBBP1A', 'score': 10.51}, {'connected_gene': 'ENSG00000262678', 'score': 10.51}, {'connected_gene': 'GC17P005122', 'score': 0.2}]
chr17 GH17I004615 4615378 4619027 0.38 [{'connected_gene': 'RPAIN', 'score': 17.71}, {'connected_gene': 'ZNF232', 'score': 14.22}, {'connected_gene': 'DHX33', 'score': 13.14}, {'connected_gene': 'MIS12', 'score': 12.97}, {'connected_gene': 'ENSG00000263272', 'score': 12.47}, {'connected_gene': 'LOC100130950', 'score': 11.75}, {'connected_gene': 'LOC101927979', 'score': 11.22}, {'connected_gene': 'LOC105371492', 'score': 11.21}, {'connected_gene': 'ENSG00000235085', 'score': 11.1}, {'connected_gene': 'ANKFY1', 'score': 10.85}, {'connected_gene': 'DERL2', 'score': 10.35}, {'connected_gene': 'ENSG00000263220', 'score': 10.1}, {'connected_gene': 'LINC01996', 'score': 8.17}, {'connected_gene': 'ENSG00000262165', 'score': 5.57}, {'connected_gene': 'ALOX15', 'score': 5.3}, {'connected_gene': 'RNU6-955P', 'score': 0.77}, {'connected_gene': 'LOC105371498', 'score': 0.39}]
chr17 GH17I005464 5464770 5466042 0.74 [{'connected_gene': 'RPAIN', 'score': 11.41}, {'connected_gene': 'NUP88', 'score': 11.41}, {'connected_gene': 'MIS12', 'score': 6.37}, {'connected_gene': 'ENSG00000262855', 'score': 4.89}, {'connected_gene': 'SCIMP', 'score': 4.72}, {'connected_gene': 'LOC105371506', 'score': 0.77}, {'connected_gene': 'DHX33', 'score': 0.77}, {'connected_gene': 'C1QBP', 'score': 0.37}, {'connected_gene': 'GC17M005386', 'score': 0.11}]
chr17 GH17I005499 5499652 5501833 1.33 [{'connected_gene': 'LOC728392', 'score': 550.77}, {'connected_gene': 'ENSG00000263272', 'score': 6.35}, {'connected_gene': 'MIS12', 'score': 5.44}, {'connected_gene': 'DERL2', 'score': 0.39}, {'connected_gene': 'GC17M005386', 'score': 0.14}, {'connected_gene': 'NLRP1', 'score': 0.13}]
chr17 GH17I005437 5437321 5440170 2.02 [{'connected_gene': 'C1QBP', 'score': 550.39}, {'connected_gene': 'LOC101927979', 'score': 34.28}, {'connected_gene': 'RPAIN', 'score': 33.56}, {'connected_gene': 'ZNF232', 'score': 19.08}, {'connected_gene': 'DERL2', 'score': 10.71}, {'connected_gene': 'MIS12', 'score': 10.71}, {'connected_gene': 'ENSG00000263272', 'score': 10.58}, {'connected_gene': 'MYBBP1A', 'score': 10.51}, {'connected_gene': 'LOC100130950', 'score': 9.97}, {'connected_gene': 'NUP88', 'score': 9.6}, {'connected_gene': 'DHX33', 'score': 5.82}, {'connected_gene': 'SPAG7', 'score': 5.69}, {'connected_gene': 'GC17M005386', 'score': 0.09}]
chr17 GH17I005466 5466745 5469700 2.08 [{'connected_gene': 'DHX33', 'score': 561.77}, {'connected_gene': 'LOC105371506', 'score': 550.77}, {'connected_gene': 'RPAIN', 'score': 23.14}, {'connected_gene': 'NUP88', 'score': 21.82}, {'connected_gene': 'DERL2', 'score': 20.96}, {'connected_gene': 'ZNF594', 'score': 15.91}, {'connected_gene': 'RABEP1', 'score': 15.58}, {'connected_gene': 'MIS12', 'score': 14.92}, {'connected_gene': 'LOC100130950', 'score': 13.05}, {'connected_gene': 'PELP1', 'score': 11.94}, {'connected_gene': 'ZNF232', 'score': 11.26}, {'connected_gene': 'ENSG00000263164', 'score': 10.22}, {'connected_gene': 'ENSG00000262678', 'score': 10.11}, {'connected_gene': 'MYBBP1A', 'score': 9.93}, {'connected_gene': 'LOC101927979', 'score': 9.78}, {'connected_gene': 'ENSG00000263272', 'score': 4.51}, {'connected_gene': 'C1QBP', 'score': 0.37}, {'connected_gene': 'GC17M005386', 'score': 0.11}]
chr17 GH17I005484 5484882 5488026 2.08 [{'connected_gene': 'DERL2', 'score': 560.63}, {'connected_gene': 'MIS12', 'score': 557.55}, {'connected_gene': 'RPAIN', 'score': 14.44}, {'connected_gene': 'NUP88', 'score': 14.22}, {'connected_gene': 'LOC102724009', 'score': 11.77}, {'connected_gene': 'NLRP1', 'score': 6.51}, {'connected_gene': 'ENSG00000263272', 'score': 6.1}, {'connected_gene': 'DHX33', 'score': 5.83}, {'connected_gene': 'GC17M005386', 'score': 0.13}]
chr17 GH17I005515 5514930 5518182 1.1 [{'connected_gene': 'DERL2', 'score': 11.73}, {'connected_gene': 'MIS12', 'score': 11.71}, {'connected_gene': 'RPAIN', 'score': 10.75}, {'connected_gene': 'NLRP1', 'score': 10.39}, {'connected_gene': 'RNU7-31P', 'score': 0.77}, {'connected_gene': 'LOC105371507', 'score': 0.34}, {'connected_gene': 'GC17M005386', 'score': 0.16}]
chr17 GH17I004719 4719443 4720376 0.85 [{'connected_gene': 'DERL2', 'score': 20.28}, {'connected_gene': 'ARRB2', 'score': 16.2}, {'connected_gene': 'MIS12', 'score': 13.42}, {'connected_gene': 'ZNF232', 'score': 12.23}, {'connected_gene': 'RPAIN', 'score': 10.95}, {'connected_gene': 'LOC100130950', 'score': 10.5}, {'connected_gene': 'ZFP3', 'score': 5.53}, {'connected_gene': 'GC17M004721', 'score': 0.77}, {'connected_gene': 'GC17M004714', 'score': 0.44}]
chr17 GH17I005220 5220594 5236355 1.89 [{'connected_gene': 'SCIMP', 'score': 563.29}, {'connected_gene': 'RABEP1', 'score': 23.52}, {'connected_gene': 'ENSG00000263164', 'score': 14.92}, {'connected_gene': 'LOC101928000', 'score': 14.4}, {'connected_gene': 'USP6', 'score': 10.39}, {'connected_gene': 'CAMTA2', 'score': 8.93}, {'connected_gene': 'NUP88', 'score': 7.98}, {'connected_gene': 'ENSG00000262165', 'score': 6.47}, {'connected_gene': 'ZFP3', 'score': 6.0}, {'connected_gene': 'NLRP1', 'score': 5.99}, {'connected_gene': 'CHRNE', 'score': 5.73}, {'connected_gene': 'RPAIN', 'score': 5.13}, {'connected_gene': 'MIS12', 'score': 4.88}, {'connected_gene': 'PIR60028', 'score': 0.39}, {'connected_gene': 'LOC100130950', 'score': 0.28}]
chr17 GH17I004996 4996746 5000947 1.99 [{'connected_gene': 'INCA1', 'score': 558.49}, {'connected_gene': 'KIF1C', 'score': 558.21}, {'connected_gene': 'CHRNE', 'score': 27.51}, {'connected_gene': 'ZNF232', 'score': 21.97}, {'connected_gene': 'NUP88', 'score': 20.98}, {'connected_gene': 'MIS12', 'score': 19.18}, {'connected_gene': 'ZZEF1', 'score': 19.11}, {'connected_gene': 'CAMTA2', 'score': 15.12}, {'connected_gene': 'DERL2', 'score': 12.71}, {'connected_gene': 'ENSG00000234203', 'score': 12.05}, {'connected_gene': 'SPAG7', 'score': 12.03}, {'connected_gene': 'SLC25A11', 'score': 11.76}, {'connected_gene': 'RNF167', 'score': 11.76}, {'connected_gene': 'PFN1', 'score': 11.53}, {'connected_gene': 'ENO3', 'score': 11.52}, {'connected_gene': 'ENSG00000262678', 'score': 10.82}, {'connected_gene': 'LOC101927979', 'score': 10.81}, {'connected_gene': 'GC17M005004', 'score': 0.39}]
chr17 GH17I004985 4985742 4989436 2.07 [{'connected_gene': 'CAMTA2', 'score': 575.94}, {'connected_gene': 'ENSG00000262678', 'score': 561.2}, {'connected_gene': 'LOC101927979', 'score': 561.18}, {'connected_gene': 'ZNF594', 'score': 27.44}, {'connected_gene': 'LOC100130950', 'score': 24.91}, {'connected_gene': 'CHRNE', 'score': 22.61}, {'connected_gene': 'ZNF232', 'score': 13.42}, {'connected_gene': 'DERL2', 'score': 12.71}, {'connected_gene': 'NUP88', 'score': 11.39}, {'connected_gene': 'MIS12', 'score': 11.13}, {'connected_gene': 'ZZEF1', 'score': 10.97}, {'connected_gene': 'PELP1', 'score': 9.91}, {'connected_gene': 'RPAIN', 'score': 9.85}, {'connected_gene': 'INCA1', 'score': 0.39}]
chr17 GH17I005525 5525472 5528621 1.29 [{'connected_gene': 'NLRP1', 'score': 15.31}, {'connected_gene': 'RPAIN', 'score': 13.03}, {'connected_gene': 'DERL2', 'score': 11.62}, {'connected_gene': 'MIS12', 'score': 11.62}, {'connected_gene': 'DHX33', 'score': 10.66}, {'connected_gene': 'RNU7-31P', 'score': 0.39}, {'connected_gene': 'LOC105371507', 'score': 0.39}, {'connected_gene': 'GC17M005386', 'score': 0.18}]
chr17 GH17I005554 5554824 5556124 0.31 [{'connected_gene': 'NLRP1', 'score': 20.38}, {'connected_gene': 'RPAIN', 'score': 13.22}, {'connected_gene': 'DERL2', 'score': 11.04}, {'connected_gene': 'MIS12', 'score': 11.04}, {'connected_gene': 'RNU7-31P', 'score': 11.04}, {'connected_gene': 'LOC105371507', 'score': 0.37}, {'connected_gene': 'GC17M005386', 'score': 0.22}]
chr17 GH17I004908 4908030 4910589 1.43 [{'connected_gene': 'CHRNE', 'score': 34.5}, {'connected_gene': 'LOC101927979', 'score': 23.97}, {'connected_gene': 'ZNF232', 'score': 23.48}, {'connected_gene': 'ENSG00000263220', 'score': 20.29}, {'connected_gene': 'ZNF594', 'score': 16.1}, {'connected_gene': 'RPAIN', 'score': 15.56}, {'connected_gene': 'LOC100130950', 'score': 15.16}, {'connected_gene': 'ENO3', 'score': 14.51}, {'connected_gene': 'DHX33', 'score': 13.14}, {'connected_gene': 'MIS12', 'score': 12.29}, {'connected_gene': 'ENSG00000235085', 'score': 11.69}, {'connected_gene': 'ANKFY1', 'score': 11.09}, {'connected_gene': 'PELP1', 'score': 10.86}, {'connected_gene': 'ZZEF1', 'score': 10.62}, {'connected_gene': 'ENSG00000263272', 'score': 10.11}, {'connected_gene': 'ZFP3', 'score': 8.24}, {'connected_gene': 'C17orf107', 'score': 7.49}, {'connected_gene': 'ENSG00000262165', 'score': 6.96}, {'connected_gene': 'CAMTA2', 'score': 6.1}, {'connected_gene': 'KIF1C', 'score': 2.0}, {'connected_gene': 'SMTNL2', 'score': 1.67}, {'connected_gene': 'GP1BA', 'score': 0.34}]
chr17 GH17I004553 4553789 4556362 2.03 [{'connected_gene': 'MYBBP1A', 'score': 583.33}, {'connected_gene': 'RPAIN', 'score': 24.35}, {'connected_gene': 'ANKFY1', 'score': 23.64}, {'connected_gene': 'LOC100130950', 'score': 22.73}, {'connected_gene': 'DHX33', 'score': 20.93}, {'connected_gene': 'ZNF232', 'score': 19.71}, {'connected_gene': 'LOC101927979', 'score': 17.38}, {'connected_gene': 'GGT6', 'score': 16.3}, {'connected_gene': 'ENSG00000263220', 'score': 15.93}, {'connected_gene': 'ZNF594', 'score': 15.88}, {'connected_gene': 'ENSG00000235085', 'score': 12.43}, {'connected_gene': 'PELP1', 'score': 12.03}, {'connected_gene': 'NUP88', 'score': 11.34}, {'connected_gene': 'LOC105371492', 'score': 10.35}, {'connected_gene': 'ENSG00000263164', 'score': 10.18}, {'connected_gene': 'ENSG00000263272', 'score': 10.04}, {'connected_gene': 'ZZEF1', 'score': 9.88}, {'connected_gene': 'MIS12', 'score': 9.76}, {'connected_gene': 'PIR51445', 'score': 0.44}]
chr17 GH17I005511 5511521 5511615 0.43 [{'connected_gene': 'LOC101928044', 'score': 550.77}, {'connected_gene': 'DERL2', 'score': 12.17}, {'connected_gene': 'MIS12', 'score': 12.14}, {'connected_gene': 'LOC728392', 'score': 0.39}, {'connected_gene': 'GC17M005386', 'score': 0.15}, {'connected_gene': 'NLRP1', 'score': 0.14}]
chr17 GH17I005110 5110936 5113011 1.56 [{'connected_gene': 'LOC101928000', 'score': 578.09}, {'connected_gene': 'ANKFY1', 'score': 28.65}, {'connected_gene': 'LOC100130950', 'score': 25.72}, {'connected_gene': 'RPAIN', 'score': 24.44}, {'connected_gene': 'DHX33', 'score': 20.96}, {'connected_gene': 'ZNF232', 'score': 20.25}, {'connected_gene': 'DERL2', 'score': 19.17}, {'connected_gene': 'ENSG00000263272', 'score': 18.2}, {'connected_gene': 'ZNF594', 'score': 16.32}, {'connected_gene': 'ENSG00000263220', 'score': 15.97}, {'connected_gene': 'ZZEF1', 'score': 15.09}, {'connected_gene': 'LOC101927979', 'score': 12.9}, {'connected_gene': 'ENSG00000235085', 'score': 12.35}, {'connected_gene': 'MYBBP1A', 'score': 12.03}, {'connected_gene': 'ZFP3', 'score': 11.7}, {'connected_gene': 'LOC102724009', 'score': 11.49}, {'connected_gene': 'PELP1', 'score': 11.01}, {'connected_gene': 'CAMTA2', 'score': 10.7}, {'connected_gene': 'SCIMP', 'score': 9.87}, {'connected_gene': 'MIS12', 'score': 9.73}, {'connected_gene': 'NUP88', 'score': 7.68}, {'connected_gene': 'SPAG7', 'score': 5.28}, {'connected_gene': 'USP6', 'score': 0.77}, {'connected_gene': 'GC17P005090', 'score': 0.34}]
chr17 GH17I005557 5557561 5557730 0.2 [{'connected_gene': 'RNU7-31P', 'score': 11.04}, {'connected_gene': 'DERL2', 'score': 11.03}, {'connected_gene': 'MIS12', 'score': 11.03}, {'connected_gene': 'LOC105371507', 'score': 0.37}, {'connected_gene': 'GC17M005386', 'score': 0.23}, {'connected_gene': 'NLRP1', 'score': 0.21}]
chr17 GH17I005431 5431341 5431510 0.58 [{'connected_gene': 'ENSG00000263272', 'score': 550.77}, {'connected_gene': 'RABEP1', 'score': 14.96}, {'connected_gene': 'MIS12', 'score': 10.39}, {'connected_gene': 'DERL2', 'score': 10.38}, {'connected_gene': 'RPAIN', 'score': 7.47}, {'connected_gene': 'SPAG7', 'score': 6.02}, {'connected_gene': 'NUP88', 'score': 0.39}, {'connected_gene': 'GC17P005414', 'score': 0.37}, {'connected_gene': 'GC17M005386', 'score': 0.1}]
chr17 GH17I005306 5306401 5307400 0.69 [{'connected_gene': 'GC17M005305', 'score': 550.77}, {'connected_gene': 'RABEP1', 'score': 16.59}, {'connected_gene': 'LOC101928000', 'score': 10.52}, {'connected_gene': 'USP6', 'score': 9.83}, {'connected_gene': 'MIS12', 'score': 6.16}, {'connected_gene': 'SPAG7', 'score': 4.51}, {'connected_gene': 'GC17P005309', 'score': 0.77}]
chr17 GH17I005432 5431572 5432645 0.74 [{'connected_gene': 'ENSG00000263272', 'score': 563.56}, {'connected_gene': 'DERL2', 'score': 10.39}, {'connected_gene': 'MIS12', 'score': 10.39}, {'connected_gene': 'NUP88', 'score': 0.39}, {'connected_gene': 'RPAIN', 'score': 0.39}, {'connected_gene': 'GC17P005414', 'score': 0.37}, {'connected_gene': 'GC17M005386', 'score': 0.1}]
chr17 GH17I005236 5236746 5239280 1.25 [{'connected_gene': 'ENSG00000263164', 'score': 13.82}, {'connected_gene': 'LOC101928000', 'score': 12.18}, {'connected_gene': 'MIS12', 'score': 4.8}, {'connected_gene': 'DHX33', 'score': 4.49}, {'connected_gene': 'SCIMP', 'score': 0.77}, {'connected_gene': 'GC17M005239', 'score': 0.77}, {'connected_gene': 'LOC100130950', 'score': 0.25}]

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