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
ENST00000448464 [[95938199, 95942956], [95944297, 95944335], [95952087, 95952448], [95953057, 95953319], [95961381, 95961594]] [[95944313, 95944335], [95952087, 95952448], [95953057, 95953169]]
ENST00000342697 [[95938199, 95942956], [95952087, 95952448], [95953057, 95953319], [95961381, 95961639]] [[95942706, 95942956], [95952087, 95952448], [95953057, 95953169]]
ENST00000378776 [[95942706, 95942782], [95951914, 95951919], [95952083, 95952448], [95953057, 95953201]] [[95942706, 95942782], [95951914, 95951919], [95952083, 95952448], [95953057, 95953169]]
NM_001135733 [[95938199, 95942956], [95944297, 95944335], [95952087, 95952448], [95953057, 95953319], [95961381, 95961615]] [[95944313, 95944335], [95952087, 95952448], [95953057, 95953169]]
NM_033285 [[95938199, 95942956], [95952087, 95952448], [95953057, 95953319], [95961381, 95961615]] [[95942706, 95942956], [95952087, 95952448], [95953057, 95953169]]
Promoter
Chrom Start End Description
chr8 95941640 95941647 CAGE_peak_3_at_TP53INP1_5end
chr8 95961548 95961562 CAGE_peak_2_at_TP53INP1_5end
chr8 95961578 95961628 CAGE_peak_1_at_TP53INP1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I094941 94941411 94945013 0.94 [{'connected_gene': 'TP53INP1', 'score': 8.4}, {'connected_gene': 'CCNE2', 'score': 0.25}, {'connected_gene': 'NDUFAF6', 'score': 0.25}]
chr8 GH08I094945 94945473 94945622 0.87 [{'connected_gene': 'TP53INP1', 'score': 0.77}, {'connected_gene': 'CCNE2', 'score': 0.25}, {'connected_gene': 'NDUFAF6', 'score': 0.23}]
chr8 GH08I095020 95020401 95020600 0.63 [{'connected_gene': 'TP53INP1', 'score': 11.94}, {'connected_gene': 'ENSG00000253878', 'score': 11.94}, {'connected_gene': 'CCNE2', 'score': 11.12}, {'connected_gene': 'RNU6-1209P', 'score': 0.29}, {'connected_gene': 'GC08P094978', 'score': 0.26}, {'connected_gene': 'NDUFAF6', 'score': 0.13}]
chr8 GH08I094990 94990401 94991525 1.21 [{'connected_gene': 'TP53INP1', 'score': 11.26}, {'connected_gene': 'ENSG00000253878', 'score': 11.26}, {'connected_gene': 'CCNE2', 'score': 10.74}, {'connected_gene': 'RNU6-1209P', 'score': 10.33}, {'connected_gene': 'GC08P094978', 'score': 0.39}, {'connected_gene': 'NDUFAF6', 'score': 0.15}]
chr8 GH08I094796 94796885 94798524 0.8 [{'connected_gene': 'TP53INP1', 'score': 5.74}, {'connected_gene': 'GC08P094793', 'score': 0.77}, {'connected_gene': 'INTS8', 'score': 0.37}]
chr8 GH08I094946 94946965 94951642 2.22 [{'connected_gene': 'TP53INP1', 'score': 559.8}, {'connected_gene': 'ENSG00000253878', 'score': 550.77}, {'connected_gene': 'NDUFAF6', 'score': 6.79}, {'connected_gene': 'C8orf37', 'score': 4.52}, {'connected_gene': 'CCNE2', 'score': 0.23}]
chr8 GH08I095006 95006453 95006622 0.8 [{'connected_gene': 'TP53INP1', 'score': 12.17}, {'connected_gene': 'ENSG00000253878', 'score': 12.17}, {'connected_gene': 'RNU6-1209P', 'score': 11.29}, {'connected_gene': 'GC08P094978', 'score': 0.31}, {'connected_gene': 'NDUFAF6', 'score': 0.14}]
chr8 GH08I094914 94914413 94914562 0.46 [{'connected_gene': 'CCNE2', 'score': 0.37}, {'connected_gene': 'NDUFAF6', 'score': 0.37}, {'connected_gene': 'TP53INP1', 'score': 0.29}]
chr8 GH08I094894 94894090 94897648 2.02 [{'connected_gene': 'CCNE2', 'score': 550.77}, {'connected_gene': 'NDUFAF6', 'score': 550.77}, {'connected_gene': 'INTS8', 'score': 34.51}, {'connected_gene': 'VIRMA', 'score': 13.46}, {'connected_gene': 'MIR3150BHG', 'score': 7.44}, {'connected_gene': 'TP53INP1', 'score': 6.69}]
chr8 GH08I095209 95209673 95214962 1.34 [{'connected_gene': 'PLEKHF2', 'score': 11.79}, {'connected_gene': 'TP53INP1', 'score': 5.45}, {'connected_gene': 'LINC01298', 'score': 0.77}, {'connected_gene': 'GC08M095215', 'score': 0.77}, {'connected_gene': 'C8orf37-AS1', 'score': 0.44}]
chr8 GH08I095132 95132162 95144753 2.7 [{'connected_gene': 'PLEKHF2', 'score': 558.03}, {'connected_gene': 'TP53INP1', 'score': 12.44}, {'connected_gene': 'VIRMA', 'score': 11.97}, {'connected_gene': 'ENSG00000254248', 'score': 11.46}, {'connected_gene': 'RNU6-1209P', 'score': 10.51}, {'connected_gene': 'ENSG00000253878', 'score': 10.32}, {'connected_gene': 'INTS8', 'score': 10.05}, {'connected_gene': 'MIR3150BHG', 'score': 8.0}, {'connected_gene': 'GC08P095140', 'score': 0.77}]
chr8 GH08I095070 95070001 95070200 0.58 [{'connected_gene': 'PLEKHF2', 'score': 11.37}, {'connected_gene': 'TP53INP1', 'score': 9.86}, {'connected_gene': 'ENSG00000253878', 'score': 9.86}, {'connected_gene': 'MIR3150A', 'score': 0.77}, {'connected_gene': 'MIR3150BHG', 'score': 0.44}, {'connected_gene': 'NDUFAF6', 'score': 0.09}]
chr8 GH08I095248 95248793 95248982 0.96 [{'connected_gene': 'PLEKHF2', 'score': 11.81}, {'connected_gene': 'INTS8', 'score': 10.74}, {'connected_gene': 'ENSG00000253878', 'score': 10.53}, {'connected_gene': 'TP53INP1', 'score': 10.53}, {'connected_gene': 'TRS-AGA2-5', 'score': 0.34}, {'connected_gene': 'C8orf37', 'score': 0.34}, {'connected_gene': 'LINC01298', 'score': 0.29}, {'connected_gene': 'C8orf37-AS1', 'score': 0.26}]
chr8 GH08I095236 95236693 95237055 0.63 [{'connected_gene': 'PLEKHF2', 'score': 10.96}, {'connected_gene': 'RNU6-1209P', 'score': 10.93}, {'connected_gene': 'ENSG00000253878', 'score': 10.43}, {'connected_gene': 'TP53INP1', 'score': 10.43}, {'connected_gene': 'C8orf37', 'score': 5.87}, {'connected_gene': 'LINC01298', 'score': 0.34}, {'connected_gene': 'C8orf37-AS1', 'score': 0.29}, {'connected_gene': 'TRS-AGA2-5', 'score': 0.29}]
chr8 GH08I095237 95237253 95238557 0.97 [{'connected_gene': 'PLEKHF2', 'score': 10.96}, {'connected_gene': 'RNU6-1209P', 'score': 10.93}, {'connected_gene': 'ENSG00000253878', 'score': 10.43}, {'connected_gene': 'TP53INP1', 'score': 10.43}, {'connected_gene': 'C8orf37', 'score': 5.87}, {'connected_gene': 'LINC01298', 'score': 0.34}, {'connected_gene': 'C8orf37-AS1', 'score': 0.29}, {'connected_gene': 'TRS-AGA2-5', 'score': 0.29}]
chr8 GH08I094822 94822353 94825001 2.01 [{'connected_gene': 'INTS8', 'score': 561.99}, {'connected_gene': 'TP53INP1', 'score': 17.19}, {'connected_gene': 'CCNE2', 'score': 11.3}, {'connected_gene': 'ENSG00000254307', 'score': 11.16}, {'connected_gene': 'ENSG00000253878', 'score': 10.59}, {'connected_gene': 'ESRP1', 'score': 7.95}, {'connected_gene': 'NDUFAF6', 'score': 7.15}, {'connected_gene': 'ENSG00000272509', 'score': 0.21}]
chr8 GH08I094862 94862144 94863711 0.69 [{'connected_gene': 'INTS8', 'score': 23.13}, {'connected_gene': 'TP53INP1', 'score': 16.86}, {'connected_gene': 'CCNE2', 'score': 11.65}, {'connected_gene': 'ENSG00000253878', 'score': 10.63}, {'connected_gene': 'NDUFAF6', 'score': 8.15}, {'connected_gene': 'ENSG00000272509', 'score': 0.34}]
chr8 GH08I094814 94814236 94815523 0.43 [{'connected_gene': 'INTS8', 'score': 567.97}, {'connected_gene': 'ENSG00000254307', 'score': 12.27}, {'connected_gene': 'CCNE2', 'score': 11.49}, {'connected_gene': 'ENSG00000253878', 'score': 10.44}, {'connected_gene': 'TP53INP1', 'score': 10.44}, {'connected_gene': 'ENSG00000272509', 'score': 0.2}]
chr8 GH08I094927 94927837 94931017 0.59 [{'connected_gene': 'INTS8', 'score': 15.08}, {'connected_gene': 'ENSG00000253878', 'score': 12.79}, {'connected_gene': 'CCNE2', 'score': 12.43}, {'connected_gene': 'NDUFAF6', 'score': 12.32}, {'connected_gene': 'ENSG00000254307', 'score': 11.29}, {'connected_gene': 'MIR3150BHG', 'score': 7.93}, {'connected_gene': 'TP53INP1', 'score': 0.37}]
chr8 GH08I094904 94904492 94908047 1.11 [{'connected_gene': 'INTS8', 'score': 63.97}, {'connected_gene': 'VIRMA', 'score': 32.67}, {'connected_gene': 'TP53INP1', 'score': 19.04}, {'connected_gene': 'ENSG00000253878', 'score': 10.99}, {'connected_gene': 'NDUFAF6', 'score': 6.54}, {'connected_gene': 'CCNE2', 'score': 0.44}]
chr8 GH08I095144 95144801 95145000 0.58 [{'connected_gene': 'VIRMA', 'score': 11.97}, {'connected_gene': 'ENSG00000254248', 'score': 11.44}, {'connected_gene': 'RNU6-1209P', 'score': 10.5}, {'connected_gene': 'INTS8', 'score': 10.05}, {'connected_gene': 'ENSG00000253878', 'score': 9.93}, {'connected_gene': 'TP53INP1', 'score': 9.93}, {'connected_gene': 'GC08P095140', 'score': 0.77}, {'connected_gene': 'PLEKHF2', 'score': 0.39}, {'connected_gene': 'C8orf37-AS1', 'score': 0.22}]
chr8 GH08I095249 95248065 95248770 0.75 [{'connected_gene': 'C8orf37', 'score': 12.68}, {'connected_gene': 'PLEKHF2', 'score': 11.82}, {'connected_gene': 'INTS8', 'score': 10.74}, {'connected_gene': 'ENSG00000253878', 'score': 10.53}, {'connected_gene': 'TP53INP1', 'score': 10.53}, {'connected_gene': 'TRS-AGA2-5', 'score': 0.34}, {'connected_gene': 'LINC01298', 'score': 0.29}, {'connected_gene': 'C8orf37-AS1', 'score': 0.26}]
chr8 GH08I095024 95024011 95026352 2.07 [{'connected_gene': 'NDUFAF6', 'score': 550.13}, {'connected_gene': 'TP53INP1', 'score': 18.05}, {'connected_gene': 'MIR3150BHG', 'score': 14.99}, {'connected_gene': 'ENSG00000253878', 'score': 12.22}, {'connected_gene': 'VIRMA', 'score': 11.98}, {'connected_gene': 'CCNE2', 'score': 11.64}, {'connected_gene': 'RNU6-1209P', 'score': 11.12}, {'connected_gene': 'ENSG00000254307', 'score': 10.58}, {'connected_gene': 'INTS8', 'score': 10.07}, {'connected_gene': 'GC08P094978', 'score': 0.25}]
chr8 GH08I094934 94934922 94937595 0.43 [{'connected_gene': 'NDUFAF6', 'score': 7.27}, {'connected_gene': 'INTS8', 'score': 6.89}, {'connected_gene': 'TP53INP1', 'score': 6.12}, {'connected_gene': 'CCNE2', 'score': 0.28}]
chr8 GH08I095010 95010737 95011237 0.31 [{'connected_gene': 'MIR3150BHG', 'score': 14.09}, {'connected_gene': 'ENSG00000253878', 'score': 12.02}, {'connected_gene': 'TP53INP1', 'score': 12.02}, {'connected_gene': 'CCNE2', 'score': 11.88}, {'connected_gene': 'NDUFAF6', 'score': 11.88}, {'connected_gene': 'RAD54B', 'score': 9.34}, {'connected_gene': 'GC08P094978', 'score': 0.29}, {'connected_gene': 'RNU6-1209P', 'score': 0.26}]
chr8 GH08I095021 95020613 95020762 0.59 [{'connected_gene': 'MIR3150BHG', 'score': 15.18}, {'connected_gene': 'TP53INP1', 'score': 11.94}, {'connected_gene': 'ENSG00000253878', 'score': 11.94}, {'connected_gene': 'CCNE2', 'score': 11.12}, {'connected_gene': 'RNU6-1209P', 'score': 0.29}, {'connected_gene': 'GC08P094978', 'score': 0.26}, {'connected_gene': 'NDUFAF6', 'score': 0.13}]
chr8 GH08I095023 95023560 95023736 0.2 [{'connected_gene': 'MIR3150BHG', 'score': 13.88}, {'connected_gene': 'TP53INP1', 'score': 12.23}, {'connected_gene': 'ENSG00000253878', 'score': 12.23}, {'connected_gene': 'CCNE2', 'score': 11.64}, {'connected_gene': 'RNU6-1209P', 'score': 11.12}, {'connected_gene': 'ENSG00000254307', 'score': 10.58}, {'connected_gene': 'GC08P094978', 'score': 0.25}, {'connected_gene': 'NDUFAF6', 'score': 0.13}]
chr8 GH08I094963 94963115 94964974 1.17 [{'connected_gene': 'MIR3150BHG', 'score': 9.8}, {'connected_gene': 'TP53INP1', 'score': 8.57}, {'connected_gene': 'NDUFAF6', 'score': 5.87}, {'connected_gene': 'C8orf37', 'score': 4.37}, {'connected_gene': 'PLEKHF2', 'score': 1.84}, {'connected_gene': 'ENSG00000253528', 'score': 0.39}, {'connected_gene': 'ENSG00000253878', 'score': 0.39}]
chr8 GH08I094958 94958836 94962425 1.61 [{'connected_gene': 'MIR3150BHG', 'score': 9.8}, {'connected_gene': 'TP53INP1', 'score': 9.12}, {'connected_gene': 'NDUFAF6', 'score': 8.31}, {'connected_gene': 'ENSG00000253528', 'score': 0.39}, {'connected_gene': 'ENSG00000253878', 'score': 0.39}]
chr8 GH08I094967 94967357 94968719 1.22 [{'connected_gene': 'MIR3150BHG', 'score': 9.8}, {'connected_gene': 'TP53INP1', 'score': 8.53}, {'connected_gene': 'ENSG00000253528', 'score': 0.44}, {'connected_gene': 'ENSG00000253878', 'score': 0.37}, {'connected_gene': 'NDUFAF6', 'score': 0.19}]
chr8 GH08I094996 94996978 94998798 0.56 [{'connected_gene': 'MIR3150BHG', 'score': 15.92}, {'connected_gene': 'TP53INP1', 'score': 11.47}, {'connected_gene': 'ENSG00000253878', 'score': 11.47}, {'connected_gene': 'GC08P094978', 'score': 0.37}, {'connected_gene': 'RNU6-1209P', 'score': 0.22}, {'connected_gene': 'NDUFAF6', 'score': 0.15}]
chr8 GH08I095063 95062993 95063142 0.69 [{'connected_gene': 'MIR3150BHG', 'score': 550.77}, {'connected_gene': 'PLEKHF2', 'score': 11.61}, {'connected_gene': 'ENSG00000254248', 'score': 11.55}, {'connected_gene': 'TP53INP1', 'score': 10.24}, {'connected_gene': 'ENSG00000253878', 'score': 10.24}, {'connected_gene': 'GC08P095056', 'score': 0.44}, {'connected_gene': 'NDUFAF6', 'score': 0.1}]
chr8 GH08I095062 95062413 95062562 0.4 [{'connected_gene': 'MIR3150BHG', 'score': 550.77}, {'connected_gene': 'PLEKHF2', 'score': 11.61}, {'connected_gene': 'ENSG00000254248', 'score': 11.52}, {'connected_gene': 'TP53INP1', 'score': 10.24}, {'connected_gene': 'ENSG00000253878', 'score': 10.24}, {'connected_gene': 'GC08P095056', 'score': 0.44}, {'connected_gene': 'NDUFAF6', 'score': 0.1}]
chr8 GH08I095064 95064200 95069513 1.37 [{'connected_gene': 'MIR3150BHG', 'score': 23.38}, {'connected_gene': 'ENSG00000254248', 'score': 13.2}, {'connected_gene': 'PLEKHF2', 'score': 11.62}, {'connected_gene': 'TP53INP1', 'score': 10.23}, {'connected_gene': 'ENSG00000253878', 'score': 10.23}, {'connected_gene': 'MIR3150A', 'score': 0.44}, {'connected_gene': 'NDUFAF6', 'score': 0.09}]
chr8 GH08I094974 94974613 94976085 0.2 [{'connected_gene': 'ENSG00000253528', 'score': 550.77}, {'connected_gene': 'TP53INP1', 'score': 20.25}, {'connected_gene': 'INTS8', 'score': 12.63}, {'connected_gene': 'ENSG00000253878', 'score': 12.16}, {'connected_gene': 'MIR3150BHG', 'score': 10.89}, {'connected_gene': 'NDUFAF6', 'score': 6.14}, {'connected_gene': 'GC08P094978', 'score': 0.77}]
chr8 GH08I094978 94978551 94979535 0.86 [{'connected_gene': 'GC08P094978', 'score': 550.77}, {'connected_gene': 'TP53INP1', 'score': 17.79}, {'connected_gene': 'ENSG00000253878', 'score': 12.08}, {'connected_gene': 'MIR3150BHG', 'score': 10.06}, {'connected_gene': 'RNU6-1209P', 'score': 0.18}, {'connected_gene': 'NDUFAF6', 'score': 0.18}]
chr8 GH08I094833 94833082 94833891 0.2 [{'connected_gene': 'ENSG00000254307', 'score': 11.85}, {'connected_gene': 'CCNE2', 'score': 11.33}, {'connected_gene': 'TP53INP1', 'score': 9.88}, {'connected_gene': 'ENSG00000253878', 'score': 9.88}, {'connected_gene': 'INTS8', 'score': 8.37}, {'connected_gene': 'ENSG00000272509', 'score': 0.23}]
chr8 GH08I095145 95145201 95145400 0.4 [{'connected_gene': 'ENSG00000254248', 'score': 11.44}, {'connected_gene': 'RNU6-1209P', 'score': 10.5}, {'connected_gene': 'TP53INP1', 'score': 9.93}, {'connected_gene': 'ENSG00000253878', 'score': 9.93}, {'connected_gene': 'GC08P095140', 'score': 0.77}, {'connected_gene': 'PLEKHF2', 'score': 0.39}, {'connected_gene': 'C8orf37-AS1', 'score': 0.22}]
chr8 GH08I095147 95147476 95148592 0.54 [{'connected_gene': 'ENSG00000254248', 'score': 11.87}, {'connected_gene': 'RNU6-1209P', 'score': 10.59}, {'connected_gene': 'ENSG00000253878', 'score': 9.93}, {'connected_gene': 'TP53INP1', 'score': 9.93}, {'connected_gene': 'ESRP1', 'score': 6.24}, {'connected_gene': 'GC08P095140', 'score': 0.44}, {'connected_gene': 'PLEKHF2', 'score': 0.39}, {'connected_gene': 'C8orf37-AS1', 'score': 0.22}]

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