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
ENST00000476882 [[78445225, 78445303], [78546358, 78546544], [78558440, 78558488]] None
ENST00000370759 [[78511585, 78512018], [78546358, 78546544], [78560635, 78560816], [78585076, 78585183], [78591564, 78591646], [78601275, 78604133]] [[78511778, 78512018], [78546358, 78546544], [78560635, 78560816], [78585076, 78585183], [78591564, 78591646], [78601275, 78601427]]
NM_001304725 [[78510645, 78510778], [78546358, 78546544], [78560635, 78560816], [78585076, 78585183], [78591564, 78591646], [78601275, 78604133]] [[78510760, 78510778], [78546358, 78546544], [78560635, 78560816], [78585076, 78585183], [78591564, 78591646], [78601275, 78601427]]
NM_017655 [[78511588, 78512018], [78546358, 78546544], [78560635, 78560816], [78585076, 78585183], [78591564, 78591646], [78601275, 78604133]] [[78511778, 78512018], [78546358, 78546544], [78560635, 78560816], [78585076, 78585183], [78591564, 78591646], [78601275, 78601427]]
Promoter
Chrom Start End Description
chr1 78445182 78445191 CAGE_peak_4_at_GIPC2_5end
chr1 78445206 78445239 CAGE_peak_3_at_GIPC2_5end
chr1 78510648 78510661 CAGE_peak_7_at_GIPC2_5end
chr1 78511640 78511688 CAGE_peak_2_at_GIPC2_5end
chr1 78511695 78511758 CAGE_peak_1_at_GIPC2_5end
chr1 78511901 78511912 CAGE_peak_6_at_GIPC2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I078080 78080802 78081199 0.51 [{'connected_gene': 'NEXN', 'score': 4.94}, {'connected_gene': 'RNU6-1102P', 'score': 0.44}, {'connected_gene': 'LOC100131495', 'score': 0.28}, {'connected_gene': 'GIPC2', 'score': 0.15}]
chr1 GH01I077975 77975531 77981032 2.3 [{'connected_gene': 'GIPC2', 'score': 558.59}, {'connected_gene': 'DNAJB4', 'score': 550.77}, {'connected_gene': 'FUBP1', 'score': 550.77}, {'connected_gene': 'NSRP1P1', 'score': 16.28}, {'connected_gene': 'ENSG00000273338', 'score': 12.57}, {'connected_gene': 'USP33', 'score': 10.11}, {'connected_gene': 'ZZZ3', 'score': 9.74}, {'connected_gene': 'NEXN', 'score': 6.34}, {'connected_gene': 'NEXN-AS1', 'score': 0.17}]
chr1 GH01I078044 78044499 78048167 2.05 [{'connected_gene': 'GIPC2', 'score': 558.27}, {'connected_gene': 'RNU6-1102P', 'score': 11.9}, {'connected_gene': 'LOC100422537', 'score': 11.88}, {'connected_gene': 'NEXN', 'score': 5.47}, {'connected_gene': 'LOC100131495', 'score': 0.77}]
chr1 GH01I078082 78082119 78082760 0.78 [{'connected_gene': 'GIPC2', 'score': 11.2}, {'connected_gene': 'RNU6-1102P', 'score': 0.44}, {'connected_gene': 'LOC100131495', 'score': 0.28}]
chr1 GH01I078099 78099994 78105279 1.34 [{'connected_gene': 'GIPC2', 'score': 8.71}, {'connected_gene': 'IFI44', 'score': 4.52}, {'connected_gene': 'RNA5SP22', 'score': 0.44}, {'connected_gene': 'GC01M078095', 'score': 0.44}, {'connected_gene': 'GC01M078144', 'score': 0.23}]
chr1 GH01I078113 78113457 78115086 1.18 [{'connected_gene': 'GIPC2', 'score': 8.34}, {'connected_gene': 'RNA5SP22', 'score': 0.37}, {'connected_gene': 'GC01M078095', 'score': 0.37}, {'connected_gene': 'GC01M078144', 'score': 0.28}]
chr1 GH01I078141 78141054 78143857 0.76 [{'connected_gene': 'GIPC2', 'score': 7.37}, {'connected_gene': 'GC01M078144', 'score': 0.39}, {'connected_gene': 'RNA5SP22', 'score': 0.25}, {'connected_gene': 'GC01M078095', 'score': 0.25}]
chr1 GH01I078073 78073196 78077055 0.49 [{'connected_gene': 'GIPC2', 'score': 11.21}, {'connected_gene': 'RNA5SP21', 'score': 9.42}, {'connected_gene': 'MIGA1', 'score': 9.42}, {'connected_gene': 'ACTG1P21', 'score': 9.42}, {'connected_gene': 'NEXN', 'score': 5.24}, {'connected_gene': 'RNU6-1102P', 'score': 0.39}, {'connected_gene': 'LOC100131495', 'score': 0.29}]
chr1 GH01I077926 77926600 77927001 0.86 [{'connected_gene': 'GIPC2', 'score': 11.42}, {'connected_gene': 'RNA5SP21', 'score': 10.76}, {'connected_gene': 'MIGA1', 'score': 10.76}, {'connected_gene': 'ACTG1P21', 'score': 10.75}, {'connected_gene': 'NEXN-AS1', 'score': 0.28}, {'connected_gene': 'NEXN', 'score': 0.28}, {'connected_gene': 'DNAJB4', 'score': 0.23}]
chr1 GH01I078038 78038497 78038726 0.59 [{'connected_gene': 'GIPC2', 'score': 12.03}, {'connected_gene': 'LOC100131495', 'score': 0.44}, {'connected_gene': 'ENSG00000273338', 'score': 0.29}]
chr1 GH01I078033 78033219 78034467 0.57 [{'connected_gene': 'GIPC2', 'score': 7.41}, {'connected_gene': 'LOC100131495', 'score': 0.39}, {'connected_gene': 'ENSG00000273338', 'score': 0.31}]
chr1 GH01I078070 78070284 78072412 1.06 [{'connected_gene': 'GIPC2', 'score': 11.22}, {'connected_gene': 'ACTG1P21', 'score': 9.4}, {'connected_gene': 'RNA5SP21', 'score': 9.4}, {'connected_gene': 'MIGA1', 'score': 9.4}, {'connected_gene': 'IFI44', 'score': 6.32}, {'connected_gene': 'RNU6-1102P', 'score': 0.37}, {'connected_gene': 'LOC100131495', 'score': 0.31}]
chr1 GH01I077886 77886914 77891885 2.13 [{'connected_gene': 'NEXN-AS1', 'score': 555.96}, {'connected_gene': 'NEXN', 'score': 555.62}, {'connected_gene': 'USP33', 'score': 10.37}, {'connected_gene': 'GIPC2', 'score': 7.97}, {'connected_gene': 'FUBP1', 'score': 6.25}, {'connected_gene': 'IFI44', 'score': 5.11}]
chr1 GH01I077904 77904171 77905371 0.31 [{'connected_gene': 'MIGA1', 'score': 10.12}, {'connected_gene': 'ACTG1P21', 'score': 10.12}, {'connected_gene': 'RNA5SP21', 'score': 10.11}, {'connected_gene': 'ZZZ3', 'score': 9.75}, {'connected_gene': 'GIPC2', 'score': 7.95}, {'connected_gene': 'NEXN', 'score': 7.14}, {'connected_gene': 'NEXN-AS1', 'score': 0.37}, {'connected_gene': 'DNAJB4', 'score': 0.19}]
chr1 GH01I077429 77429415 77433832 0.66 [{'connected_gene': 'AK5', 'score': 31.45}, {'connected_gene': 'ENSG00000233099', 'score': 10.48}, {'connected_gene': 'GIPC2', 'score': 4.64}, {'connected_gene': 'GC01P077421', 'score': 0.39}, {'connected_gene': 'GC01P077502', 'score': 0.19}]
chr1 GH01I077504 77504539 77505752 0.66 [{'connected_gene': 'AK5', 'score': 15.68}, {'connected_gene': 'ENSG00000233099', 'score': 10.83}, {'connected_gene': 'RNU7-8P', 'score': 10.21}, {'connected_gene': 'GIPC2', 'score': 5.8}, {'connected_gene': 'GC01P077502', 'score': 0.77}, {'connected_gene': 'GC01P077577', 'score': 0.19}]
chr1 GH01I077509 77509377 77516460 1.33 [{'connected_gene': 'AK5', 'score': 16.52}, {'connected_gene': 'ENSG00000233099', 'score': 10.82}, {'connected_gene': 'RNU7-8P', 'score': 10.67}, {'connected_gene': 'ZZZ3', 'score': 10.14}, {'connected_gene': 'GIPC2', 'score': 5.77}, {'connected_gene': 'FUBP1', 'score': 4.47}, {'connected_gene': 'GC01P077502', 'score': 0.39}, {'connected_gene': 'GC01P077577', 'score': 0.21}]
chr1 GH01I077680 77680898 77684896 2.1 [{'connected_gene': 'ZZZ3', 'score': 575.81}, {'connected_gene': 'FUBP1', 'score': 48.24}, {'connected_gene': 'RPL17P6', 'score': 33.4}, {'connected_gene': 'ENSG00000273338', 'score': 10.64}, {'connected_gene': 'NEXN', 'score': 10.3}, {'connected_gene': 'GIPC2', 'score': 7.92}, {'connected_gene': 'AK5', 'score': 7.31}, {'connected_gene': 'DNAJB4', 'score': 6.49}, {'connected_gene': 'RN7SL370P', 'score': 0.28}]
chr1 GH01I077561 77561254 77561547 0.22 [{'connected_gene': 'ZZZ3', 'score': 10.34}, {'connected_gene': 'RNU7-8P', 'score': 9.55}, {'connected_gene': 'GIPC2', 'score': 6.92}, {'connected_gene': 'MIGA1', 'score': 2.32}, {'connected_gene': 'GC01P077577', 'score': 0.37}, {'connected_gene': 'GC01P077502', 'score': 0.22}]
chr1 GH01I077958 77958167 77959481 0.49 [{'connected_gene': 'USP33', 'score': 10.6}, {'connected_gene': 'GIPC2', 'score': 7.45}, {'connected_gene': 'NEXN', 'score': 4.47}, {'connected_gene': 'DNAJB4', 'score': 0.34}, {'connected_gene': 'FUBP1', 'score': 0.34}, {'connected_gene': 'NEXN-AS1', 'score': 0.2}]
chr1 GH01I077671 77671712 77673346 0.54 [{'connected_gene': 'USP33', 'score': 10.71}, {'connected_gene': 'AK5', 'score': 7.32}, {'connected_gene': 'GIPC2', 'score': 5.31}, {'connected_gene': 'ZZZ3', 'score': 0.39}, {'connected_gene': 'RN7SL370P', 'score': 0.31}]
chr1 GH01I078002 78002645 78011212 2.76 [{'connected_gene': 'DNAJB4', 'score': 561.9}, {'connected_gene': 'NSRP1P1', 'score': 25.46}, {'connected_gene': 'FUBP1', 'score': 23.06}, {'connected_gene': 'ENSG00000273338', 'score': 13.03}, {'connected_gene': 'USP33', 'score': 11.91}, {'connected_gene': 'ZZZ3', 'score': 9.73}, {'connected_gene': 'GIPC2', 'score': 7.43}, {'connected_gene': 'NEXN', 'score': 6.05}, {'connected_gene': 'LOC100131495', 'score': 0.28}]
chr1 GH01I078061 78061025 78062856 1 [{'connected_gene': 'RNU6-1102P', 'score': 12.06}, {'connected_gene': 'LOC100422537', 'score': 12.06}, {'connected_gene': 'NEXN', 'score': 5.23}, {'connected_gene': 'FUBP1', 'score': 4.21}, {'connected_gene': 'LOC100131495', 'score': 0.37}, {'connected_gene': 'GIPC2', 'score': 0.18}]
chr1 GH01I078052 78052877 78053026 0.38 [{'connected_gene': 'RNU6-1102P', 'score': 11.63}, {'connected_gene': 'LOC100422537', 'score': 11.63}, {'connected_gene': 'NEXN', 'score': 6.58}, {'connected_gene': 'LOC100131495', 'score': 0.44}, {'connected_gene': 'GIPC2', 'score': 0.19}]
chr1 GH01I078055 78055174 78056340 0.82 [{'connected_gene': 'RNU6-1102P', 'score': 11.64}, {'connected_gene': 'LOC100422537', 'score': 11.63}, {'connected_gene': 'GIPC2', 'score': 11.57}, {'connected_gene': 'NEXN', 'score': 4.93}, {'connected_gene': 'LOC100131495', 'score': 0.39}]
chr1 GH01I077991 77991094 77992082 0.49 [{'connected_gene': 'RNU6-1102P', 'score': 11.08}, {'connected_gene': 'LOC100422537', 'score': 11.08}, {'connected_gene': 'GIPC2', 'score': 0.39}, {'connected_gene': 'DNAJB4', 'score': 0.39}, {'connected_gene': 'ENSG00000273338', 'score': 0.39}]
chr1 GH01I078057 78057880 78059982 0.43 [{'connected_gene': 'RNU6-1102P', 'score': 12.29}, {'connected_gene': 'LOC100422537', 'score': 12.29}, {'connected_gene': 'GIPC2', 'score': 10.13}, {'connected_gene': 'LOC100131495', 'score': 0.39}]
chr1 GH01I078079 78079401 78079600 0.4 [{'connected_gene': 'RNU6-1102P', 'score': 0.44}, {'connected_gene': 'LOC100131495', 'score': 0.28}, {'connected_gene': 'GIPC2', 'score': 0.15}]
chr1 GH01I078094 78094069 78098904 1.19 [{'connected_gene': 'RNA5SP22', 'score': 550.77}, {'connected_gene': 'GC01M078095', 'score': 550.77}, {'connected_gene': 'GIPC2', 'score': 10.89}, {'connected_gene': 'GC01M078144', 'score': 0.22}]
chr1 GH01I077778 77778958 77780653 2.02 [{'connected_gene': 'RNA5SP21', 'score': 550.77}, {'connected_gene': 'MIGA1', 'score': 550.77}, {'connected_gene': 'GIPC2', 'score': 5.34}]
chr1 GH01I078091 78091662 78092026 0.92 [{'connected_gene': 'LOC100422537', 'score': 550.77}, {'connected_gene': 'GIPC2', 'score': 10.98}, {'connected_gene': 'RNA5SP22', 'score': 0.77}, {'connected_gene': 'GC01M078095', 'score': 0.77}]
chr1 GH01I078092 78092817 78092966 0.71 [{'connected_gene': 'LOC100422537', 'score': 550.77}, {'connected_gene': 'RNA5SP22', 'score': 0.77}, {'connected_gene': 'GC01M078095', 'score': 0.77}, {'connected_gene': 'GIPC2', 'score': 0.14}]
chr1 GH01I078037 78037947 78038428 0.46 [{'connected_gene': 'LOC100131495', 'score': 0.44}, {'connected_gene': 'ENSG00000273338', 'score': 0.29}, {'connected_gene': 'GIPC2', 'score': 0.22}]
chr1 GH01I077686 77686783 77688200 0.72 [{'connected_gene': 'ACTG1P21', 'score': 10.42}, {'connected_gene': 'RNA5SP21', 'score': 10.41}, {'connected_gene': 'MIGA1', 'score': 10.41}, {'connected_gene': 'AK5', 'score': 10.23}, {'connected_gene': 'GIPC2', 'score': 8.88}, {'connected_gene': 'ZZZ3', 'score': 0.77}, {'connected_gene': 'USP33', 'score': 0.19}]