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
NR_029493 [[57918626, 57918698]] None
Promoter
Chrom Start End Description
chr17 57918299 57918329 CAGE_peak_4_at_MIR21_5end
chr17 57918343 57918368 CAGE_peak_6_at_MIR21_5end
chr17 57918422 57918461 CAGE_peak_2_at_MIR21_5end
chr17 57918463 57918513 CAGE_peak_1_at_MIR21_5end
chr17 57918547 57918564 CAGE_peak_3_at_MIR21_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I059705 59705256 59710489 2.31 [{'connected_gene': 'VMP1', 'score': 550.77}, {'connected_gene': 'PTRH2', 'score': 550.77}, {'connected_gene': 'PPM1D', 'score': 24.62}, {'connected_gene': 'RPS6KB1', 'score': 23.93}, {'connected_gene': 'TUBD1', 'score': 21.98}, {'connected_gene': 'RNFT1', 'score': 15.24}, {'connected_gene': 'SKA2', 'score': 14.54}, {'connected_gene': 'NDUFB8P2', 'score': 14.16}, {'connected_gene': 'RNFT1-DT', 'score': 14.03}, {'connected_gene': 'LOC100996660', 'score': 14.01}, {'connected_gene': 'RNU6-450P', 'score': 10.56}, {'connected_gene': 'MIR21', 'score': 10.56}, {'connected_gene': 'HEATR6', 'score': 10.26}, {'connected_gene': 'TRIM37', 'score': 10.01}, {'connected_gene': 'DHX40', 'score': 6.7}, {'connected_gene': 'GC17M059723', 'score': 0.37}]
chr17 GH17I059751 59751300 59771668 1.75 [{'connected_gene': 'RPS6KB1', 'score': 35.02}, {'connected_gene': 'TUBD1', 'score': 23.01}, {'connected_gene': 'NDUFB8P2', 'score': 17.96}, {'connected_gene': 'APPBP2', 'score': 14.9}, {'connected_gene': 'RNFT1-DT', 'score': 14.89}, {'connected_gene': 'ENSG00000274378', 'score': 13.08}, {'connected_gene': 'PPM1D', 'score': 12.98}, {'connected_gene': 'ENSG00000224738', 'score': 12.88}, {'connected_gene': 'MIR21', 'score': 12.57}, {'connected_gene': 'RNU6-450P', 'score': 12.56}, {'connected_gene': 'LOC100996660', 'score': 11.07}, {'connected_gene': 'SKA2', 'score': 10.52}, {'connected_gene': 'HEATR6', 'score': 10.26}, {'connected_gene': 'CA4', 'score': 6.44}, {'connected_gene': 'DHX40', 'score': 5.54}, {'connected_gene': 'VMP1', 'score': 5.01}, {'connected_gene': 'RNFT1', 'score': 4.54}, {'connected_gene': 'WFDC21P', 'score': 4.38}, {'connected_gene': 'YPEL2', 'score': 1.65}, {'connected_gene': 'ENSG00000267637', 'score': 0.34}, {'connected_gene': 'GC17M059723', 'score': 0.29}]
chr17 GH17I059781 59781749 59793599 2.03 [{'connected_gene': 'RPS6KB1', 'score': 29.97}, {'connected_gene': 'TUBD1', 'score': 26.79}, {'connected_gene': 'HEATR6', 'score': 24.03}, {'connected_gene': 'PPM1D', 'score': 22.86}, {'connected_gene': 'RNFT1-DT', 'score': 16.42}, {'connected_gene': 'SKA2', 'score': 14.53}, {'connected_gene': 'LOC100996660', 'score': 14.02}, {'connected_gene': 'MIR21', 'score': 12.81}, {'connected_gene': 'RNU6-450P', 'score': 12.8}, {'connected_gene': 'TRIM37', 'score': 10.01}, {'connected_gene': 'VMP1', 'score': 7.43}, {'connected_gene': 'ENSG00000274378', 'score': 7.1}, {'connected_gene': 'DHX40', 'score': 6.53}, {'connected_gene': 'CA4', 'score': 6.25}, {'connected_gene': 'RNFT1', 'score': 5.82}, {'connected_gene': 'NDUFB8P2', 'score': 5.17}, {'connected_gene': 'WFDC21P', 'score': 4.94}, {'connected_gene': 'ENSG00000267637', 'score': 0.77}, {'connected_gene': 'GC17M059791', 'score': 0.44}]
chr17 GH17I059686 59686106 59689561 0.59 [{'connected_gene': 'RPS6KB1', 'score': 11.36}, {'connected_gene': 'TUBD1', 'score': 11.36}, {'connected_gene': 'MIR21', 'score': 10.09}, {'connected_gene': 'RNU6-450P', 'score': 10.09}, {'connected_gene': 'DHX40', 'score': 5.42}, {'connected_gene': 'PRR11', 'score': 4.77}, {'connected_gene': 'GC17M059649', 'score': 0.44}, {'connected_gene': 'GC17P059695', 'score': 0.44}, {'connected_gene': 'PTRH2', 'score': 0.37}, {'connected_gene': 'CLTC', 'score': 0.2}]
chr17 GH17I059710 59710622 59710778 0.43 [{'connected_gene': 'RPS6KB1', 'score': 10.6}, {'connected_gene': 'TUBD1', 'score': 10.6}, {'connected_gene': 'RNU6-450P', 'score': 10.56}, {'connected_gene': 'MIR21', 'score': 10.56}, {'connected_gene': 'VMP1', 'score': 4.42}, {'connected_gene': 'CA4', 'score': 2.53}, {'connected_gene': 'DHX40', 'score': 1.36}, {'connected_gene': 'PTRH2', 'score': 0.77}, {'connected_gene': 'GC17M059723', 'score': 0.37}]
chr17 GH17I059775 59775146 59777711 0.8 [{'connected_gene': 'RPS6KB1', 'score': 34.68}, {'connected_gene': 'TUBD1', 'score': 22.67}, {'connected_gene': 'RNFT1-DT', 'score': 16.41}, {'connected_gene': 'APPBP2', 'score': 14.72}, {'connected_gene': 'NDUFB8P2', 'score': 14.21}, {'connected_gene': 'MIR21', 'score': 12.99}, {'connected_gene': 'PPM1D', 'score': 12.98}, {'connected_gene': 'RNU6-450P', 'score': 12.98}, {'connected_gene': 'ENSG00000224738', 'score': 12.87}, {'connected_gene': 'VMP1', 'score': 10.77}, {'connected_gene': 'PTRH2', 'score': 10.77}, {'connected_gene': 'HEATR6', 'score': 10.26}, {'connected_gene': 'ENSG00000274378', 'score': 6.53}, {'connected_gene': 'DHX40', 'score': 5.15}, {'connected_gene': 'RNFT1', 'score': 4.73}, {'connected_gene': 'ENSG00000267637', 'score': 0.44}, {'connected_gene': 'GC17M059723', 'score': 0.25}]
chr17 GH17I059780 59780792 59781569 0.46 [{'connected_gene': 'MIR21', 'score': 12.79}, {'connected_gene': 'RNU6-450P', 'score': 12.78}, {'connected_gene': 'ENSG00000274378', 'score': 7.1}, {'connected_gene': 'ENSG00000267637', 'score': 0.77}, {'connected_gene': 'GC17M059723', 'score': 0.23}, {'connected_gene': 'VMP1', 'score': 0.19}]
chr17 GH17I059778 59778767 59779389 0.66 [{'connected_gene': 'MIR21', 'score': 12.54}, {'connected_gene': 'RNU6-450P', 'score': 12.54}, {'connected_gene': 'ENSG00000267637', 'score': 0.44}, {'connected_gene': 'GC17M059723', 'score': 0.23}, {'connected_gene': 'VMP1', 'score': 0.19}]
chr17 GH17I059746 59746940 59747129 0.88 [{'connected_gene': 'MIR21', 'score': 12.29}, {'connected_gene': 'RNU6-450P', 'score': 12.28}, {'connected_gene': 'RPS6KB1', 'score': 11.61}, {'connected_gene': 'TUBD1', 'score': 11.61}, {'connected_gene': 'VMP1', 'score': 11.27}, {'connected_gene': 'PTRH2', 'score': 11.27}, {'connected_gene': 'GC17M059723', 'score': 0.37}, {'connected_gene': 'ENSG00000267637', 'score': 0.28}]
chr17 GH17I059773 59773222 59774500 0.8 [{'connected_gene': 'MIR21', 'score': 12.99}, {'connected_gene': 'RNU6-450P', 'score': 12.98}, {'connected_gene': 'RPS6KB1', 'score': 11.29}, {'connected_gene': 'TUBD1', 'score': 11.29}, {'connected_gene': 'HEATR6', 'score': 10.48}, {'connected_gene': 'DHX40', 'score': 5.94}, {'connected_gene': 'USP32', 'score': 4.86}, {'connected_gene': 'ENSG00000267637', 'score': 0.39}, {'connected_gene': 'GC17M059723', 'score': 0.25}, {'connected_gene': 'VMP1', 'score': 0.2}]
chr17 GH17I059872 59872420 59872649 0.58 [{'connected_gene': 'RNU6-450P', 'score': 11.57}, {'connected_gene': 'MIR21', 'score': 11.53}, {'connected_gene': 'NDUFB8P2', 'score': 0.39}, {'connected_gene': 'TUBD1', 'score': 0.34}, {'connected_gene': 'GC17M059848', 'score': 0.34}]
chr17 GH17I059819 59819572 59821431 0.49 [{'connected_gene': 'RNFT1-DT', 'score': 16.65}, {'connected_gene': 'MIR21', 'score': 12.77}, {'connected_gene': 'RNU6-450P', 'score': 12.74}, {'connected_gene': 'GC17M059826', 'score': 0.44}, {'connected_gene': 'GC17M059791', 'score': 0.31}, {'connected_gene': 'VMP1', 'score': 0.14}]
chr17 GH17I059748 59748700 59750129 0.6 [{'connected_gene': 'RNFT1-DT', 'score': 13.99}, {'connected_gene': 'MIR21', 'score': 12.29}, {'connected_gene': 'RNU6-450P', 'score': 12.28}, {'connected_gene': 'RPS6KB1', 'score': 11.61}, {'connected_gene': 'TUBD1', 'score': 11.61}, {'connected_gene': 'VMP1', 'score': 11.26}, {'connected_gene': 'PTRH2', 'score': 11.26}, {'connected_gene': 'ENSG00000274378', 'score': 5.94}, {'connected_gene': 'DHX40', 'score': 5.85}, {'connected_gene': 'RNFT1', 'score': 4.96}, {'connected_gene': 'GC17M059723', 'score': 0.34}, {'connected_gene': 'ENSG00000267637', 'score': 0.28}]
chr17 GH17I059899 59899220 59899369 0.78 [{'connected_gene': 'RNFT1-DT', 'score': 17.06}, {'connected_gene': 'RNU6-450P', 'score': 11.21}, {'connected_gene': 'MIR21', 'score': 11.2}, {'connected_gene': 'VMP1', 'score': 10.65}, {'connected_gene': 'PTRH2', 'score': 10.65}, {'connected_gene': 'HEATR6', 'score': 10.59}, {'connected_gene': 'ENSG00000274378', 'score': 8.9}, {'connected_gene': 'RPS6KB1', 'score': 0.44}, {'connected_gene': 'GC17P059894', 'score': 0.44}, {'connected_gene': 'RPS29P21', 'score': 0.39}]
chr17 GH17I059874 59874981 59875603 0.2 [{'connected_gene': 'RNFT1-DT', 'score': 14.27}, {'connected_gene': 'RNU6-450P', 'score': 11.55}, {'connected_gene': 'MIR21', 'score': 11.53}, {'connected_gene': 'NDUFB8P2', 'score': 0.44}, {'connected_gene': 'TUBD1', 'score': 0.37}, {'connected_gene': 'GC17M059848', 'score': 0.31}]
chr17 GH17I059727 59727201 59727400 0.38 [{'connected_gene': 'GC17M059723', 'score': 550.77}, {'connected_gene': 'VMP1', 'score': 11.54}, {'connected_gene': 'RPS6KB1', 'score': 11.34}, {'connected_gene': 'TUBD1', 'score': 11.34}, {'connected_gene': 'MIR21', 'score': 11.2}, {'connected_gene': 'RNU6-450P', 'score': 11.19}, {'connected_gene': 'ENSG00000267637', 'score': 0.22}]
chr17 GH17I059725 59725001 59726489 1.09 [{'connected_gene': 'GC17M059723', 'score': 550.77}, {'connected_gene': 'RPS6KB1', 'score': 11.81}, {'connected_gene': 'TUBD1', 'score': 11.81}, {'connected_gene': 'MIR21', 'score': 10.87}, {'connected_gene': 'RNU6-450P', 'score': 10.87}, {'connected_gene': 'HEATR6', 'score': 10.47}, {'connected_gene': 'VMP1', 'score': 0.37}, {'connected_gene': 'PTRH2', 'score': 0.37}]
chr17 GH17I059824 59824790 59860981 2.82 [{'connected_gene': 'GC17M059841', 'score': 550.77}, {'connected_gene': 'GC17M059843', 'score': 550.77}, {'connected_gene': 'GC17P059842', 'score': 550.77}, {'connected_gene': 'GC17P059845', 'score': 550.77}, {'connected_gene': 'GC17P059844', 'score': 550.77}, {'connected_gene': 'MIR21', 'score': 550.77}, {'connected_gene': 'GC17P059843', 'score': 550.77}, {'connected_gene': 'GC17M059842', 'score': 550.77}, {'connected_gene': 'PPM1D', 'score': 69.38}, {'connected_gene': 'TUBD1', 'score': 57.04}, {'connected_gene': 'RPS6KB1', 'score': 50.8}, {'connected_gene': 'NDUFB8P2', 'score': 37.69}, {'connected_gene': 'HEATR6', 'score': 32.24}, {'connected_gene': 'RNFT1-DT', 'score': 16.67}, {'connected_gene': 'DHX40', 'score': 15.39}, {'connected_gene': 'VMP1', 'score': 12.38}, {'connected_gene': 'PTRH2', 'score': 11.98}, {'connected_gene': 'ENSG00000274378', 'score': 9.8}, {'connected_gene': 'RNFT1', 'score': 8.51}, {'connected_gene': 'CLTC', 'score': 5.52}, {'connected_gene': 'SKA2', 'score': 4.55}, {'connected_gene': 'CA4', 'score': 1.98}, {'connected_gene': 'YPEL2', 'score': 1.28}, {'connected_gene': 'RNU6-450P', 'score': 0.77}, {'connected_gene': 'GC17M059848', 'score': 0.77}, {'connected_gene': 'GC17P059837', 'score': 0.44}, {'connected_gene': 'GC17M059826', 'score': 0.37}]