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
ENST00000225296 [[5344231, 5347833], [5352128, 5352215], [5353522, 5353726], [5354126, 5354254], [5356899, 5356988], [5357140, 5357300], [5358479, 5358591], [5359316, 5359502], [5364258, 5364429], [5365638, 5365866], [5366848, 5367009], [5371890, 5372380]] [[5347524, 5347833], [5352128, 5352215], [5353522, 5353726], [5354126, 5354254], [5356899, 5356988], [5357140, 5357300], [5358479, 5358591], [5359316, 5359502], [5364258, 5364429], [5365638, 5365866], [5366848, 5367009], [5371890, 5372179]]
ENST00000575153 [[5346808, 5347833], [5352128, 5352215], [5353522, 5353726], [5354126, 5354254], [5356899, 5356988], [5357140, 5357300], [5358479, 5358591], [5359316, 5359502], [5364258, 5364683]] None
ENST00000433302 [[5346808, 5347833], [5352128, 5352215], [5353522, 5353726], [5354126, 5354254], [5356899, 5356988], [5357140, 5357300], [5359316, 5359502], [5371890, 5372236]] [[5347524, 5347833], [5352128, 5352215], [5353522, 5353726], [5354126, 5354254], [5356899, 5356988], [5357140, 5357300], [5359316, 5359502], [5371890, 5372179]]
ENST00000572490 [[5346812, 5347833], [5352128, 5352215], [5353522, 5353726], [5354126, 5354254], [5356899, 5356988], [5357140, 5357300], [5358479, 5358591], [5359316, 5359502], [5364258, 5364429], [5365638, 5365866], [5371890, 5372068]] [[5347524, 5347833], [5352128, 5352215], [5353522, 5353726], [5354126, 5354254], [5356899, 5356988], [5357140, 5357300], [5358479, 5358591], [5359316, 5359502], [5364258, 5364429], [5365638, 5365866], [5371890, 5372068]]
ENST00000574023 [[5347417, 5347833], [5352128, 5352215], [5353522, 5353726], [5354126, 5354254], [5356899, 5356988], [5357140, 5357300], [5358479, 5358591], [5359316, 5359502], [5364258, 5364429], [5365638, 5365866], [5371890, 5372149]] [[5365843, 5365866], [5371890, 5372149]]
NM_020162 [[5344231, 5347833], [5352128, 5352215], [5353522, 5353726], [5354126, 5354254], [5356899, 5356988], [5357140, 5357300], [5358479, 5358591], [5359316, 5359502], [5364258, 5364429], [5365638, 5365866], [5366848, 5367009], [5371890, 5372380]] [[5347524, 5347833], [5352128, 5352215], [5353522, 5353726], [5354126, 5354254], [5356899, 5356988], [5357140, 5357300], [5358479, 5358591], [5359316, 5359502], [5364258, 5364429], [5365638, 5365866], [5366848, 5367009], [5371890, 5372179]]
NM_001199699 [[5344231, 5347833], [5352128, 5352215], [5353522, 5353726], [5354126, 5354254], [5356899, 5356988], [5357140, 5357300], [5358479, 5358591], [5359316, 5359502], [5364258, 5364429], [5365638, 5365866], [5371890, 5372380]] [[5347524, 5347833], [5352128, 5352215], [5353522, 5353726], [5354126, 5354254], [5356899, 5356988], [5357140, 5357300], [5358479, 5358591], [5359316, 5359502], [5364258, 5364429], [5365638, 5365797]]
Promoter
Chrom Start End Description
chr17 5372079 5372152 CAGE_peak_2_at_DHX33_5end
chr17 5372153 5372168 CAGE_peak_6_at_DHX33_5end
chr17 5372175 5372223 CAGE_peak_3_at_DHX33_5end
chr17 5372229 5372261 CAGE_peak_4_at_DHX33_5end
chr17 5372271 5372356 CAGE_peak_1_at_DHX33_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 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 GH17I006380 6380594 6385366 0.65 [{'connected_gene': 'NEURL4', 'score': 19.19}, {'connected_gene': 'RPAIN', 'score': 10.42}, {'connected_gene': 'DHX33', 'score': 10.22}, {'connected_gene': 'DVL2', 'score': 4.47}, {'connected_gene': 'LOC105371509', 'score': 0.44}, {'connected_gene': 'ENSG00000262818', 'score': 0.29}]
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 GH17I005416 5416589 5421312 2.45 [{'connected_gene': 'RPAIN', 'score': 591.14}, {'connected_gene': 'NUP88', 'score': 558.85}, {'connected_gene': 'RABEP1', 'score': 46.3}, {'connected_gene': 'ZNF594', 'score': 19.86}, {'connected_gene': 'ENSG00000263272', 'score': 17.63}, {'connected_gene': 'ENSG00000263220', 'score': 14.12}, {'connected_gene': 'C1QBP', 'score': 11.99}, {'connected_gene': 'DHX33', 'score': 10.83}, {'connected_gene': 'PELP1', 'score': 10.74}, {'connected_gene': 'LOC101927979', 'score': 10.64}, {'connected_gene': 'DERL2', 'score': 10.18}, {'connected_gene': 'GC17P005414', 'score': 0.77}, {'connected_gene': 'GC17M005386', 'score': 0.08}]
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 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 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 GH17I006364 6364585 6366622 0.89 [{'connected_gene': 'DVL2', 'score': 16.44}, {'connected_gene': 'DHX33', 'score': 12.16}, {'connected_gene': 'RPAIN', 'score': 12.01}, {'connected_gene': 'ENSG00000263220', 'score': 9.67}, {'connected_gene': 'LOC105371509', 'score': 0.44}, {'connected_gene': 'GC17M006323', 'score': 0.26}]
chr17 GH17I004498 4498269 4501580 2.24 [{'connected_gene': 'SPNS2', 'score': 554.44}, {'connected_gene': 'ENSG00000229782', 'score': 550.77}, {'connected_gene': 'LOC100130950', 'score': 20.4}, {'connected_gene': 'RPAIN', 'score': 13.94}, {'connected_gene': 'ZNF594', 'score': 13.02}, {'connected_gene': 'ENSG00000263272', 'score': 12.55}, {'connected_gene': 'ZNF232', 'score': 10.63}, {'connected_gene': 'PELP1', 'score': 10.27}, {'connected_gene': 'ENSG00000263164', 'score': 10.01}, {'connected_gene': 'SPNS3', 'score': 5.27}, {'connected_gene': 'DHX33', 'score': 4.29}, {'connected_gene': 'GC17M004505', 'score': 0.44}, {'connected_gene': 'PIR54894', 'score': 0.44}]
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 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 GH17I005412 5412183 5414780 1.07 [{'connected_gene': 'GC17P005414', 'score': 550.77}, {'connected_gene': 'RABEP1', 'score': 43.97}, {'connected_gene': 'C1QBP', 'score': 11.95}, {'connected_gene': 'DHX33', 'score': 10.82}, {'connected_gene': 'NUP88', 'score': 0.44}, {'connected_gene': 'PIR48672', 'score': 0.34}, {'connected_gene': 'GC17M005386', 'score': 0.08}]
chr17 GH17I004518 4518570 4523223 1.07 [{'connected_gene': 'ENSG00000263220', 'score': 18.07}, {'connected_gene': 'ZNF594', 'score': 13.48}, {'connected_gene': 'GGT6', 'score': 12.09}, {'connected_gene': 'RNU6-955P', 'score': 10.84}, {'connected_gene': 'DHX33', 'score': 10.66}, {'connected_gene': 'RPAIN', 'score': 10.64}, {'connected_gene': 'ENSG00000235085', 'score': 10.53}, {'connected_gene': 'ENSG00000262165', 'score': 10.51}, {'connected_gene': 'SPNS2', 'score': 6.9}, {'connected_gene': 'PIR53941', 'score': 0.77}, {'connected_gene': 'GC17P004511', 'score': 0.44}, {'connected_gene': 'GC17P004510', 'score': 0.39}, {'connected_gene': 'GC17P004512', 'score': 0.39}, {'connected_gene': 'GC17P004547', 'score': 0.31}, {'connected_gene': 'PIR35626', 'score': 0.31}]
chr17 GH17I005250 5249646 5249835 0.68 [{'connected_gene': 'PIR42526', 'score': 550.77}, {'connected_gene': 'GC17M005245', 'score': 550.77}, {'connected_gene': 'RPAIN', 'score': 24.66}, {'connected_gene': 'ENSG00000263220', 'score': 13.84}, {'connected_gene': 'ANKFY1', 'score': 12.5}, {'connected_gene': 'LOC101927979', 'score': 12.49}, {'connected_gene': 'DHX33', 'score': 12.32}, {'connected_gene': 'RABEP1', 'score': 11.67}, {'connected_gene': 'NUP88', 'score': 10.59}, {'connected_gene': 'GC17P005253', 'score': 0.77}]
chr17 GH17I005240 5240919 5243792 1.18 [{'connected_gene': 'ENSG00000263164', 'score': 558.07}, {'connected_gene': 'GC17M005239', 'score': 550.77}, {'connected_gene': 'ANKFY1', 'score': 15.2}, {'connected_gene': 'LOC101928000', 'score': 12.19}, {'connected_gene': 'DHX33', 'score': 11.72}, {'connected_gene': 'RPAIN', 'score': 10.87}, {'connected_gene': 'LOC101927979', 'score': 10.33}, {'connected_gene': 'USP6', 'score': 5.13}, {'connected_gene': 'CAMTA2', 'score': 4.91}, {'connected_gene': 'LOC100130950', 'score': 0.23}]
chr17 GH17I004565 4565402 4566146 1.06 [{'connected_gene': 'GC17M004565', 'score': 550.77}, {'connected_gene': 'PIR54684', 'score': 550.77}, {'connected_gene': 'GC17M004564', 'score': 550.77}, {'connected_gene': 'ENSG00000262921', 'score': 550.77}, {'connected_gene': 'MYBBP1A', 'score': 14.01}, {'connected_gene': 'ZNF232', 'score': 12.9}, {'connected_gene': 'DHX33', 'score': 12.16}, {'connected_gene': 'RPAIN', 'score': 12.02}, {'connected_gene': 'LOC101927979', 'score': 11.51}, {'connected_gene': 'LOC105371492', 'score': 10.02}, {'connected_gene': 'ENSG00000263220', 'score': 9.67}, {'connected_gene': 'TXNP4', 'score': 0.44}]
chr17 GH17I004517 4517976 4518298 0.31 [{'connected_gene': 'PIR53941', 'score': 550.77}, {'connected_gene': 'MYBBP1A', 'score': 13.9}, {'connected_gene': 'ZNF232', 'score': 12.9}, {'connected_gene': 'DHX33', 'score': 12.16}, {'connected_gene': 'GGT6', 'score': 12.08}, {'connected_gene': 'RPAIN', 'score': 12.01}, {'connected_gene': 'LOC101927979', 'score': 11.5}, {'connected_gene': 'LOC105371492', 'score': 10.02}, {'connected_gene': 'ENSG00000263220', 'score': 9.67}, {'connected_gene': 'SPNS2', 'score': 5.81}, {'connected_gene': 'GC17P004510', 'score': 0.44}, {'connected_gene': 'GC17P004511', 'score': 0.44}, {'connected_gene': 'GC17P004512', 'score': 0.44}, {'connected_gene': 'GC17P004547', 'score': 0.31}, {'connected_gene': 'PIR35626', 'score': 0.31}]
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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