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
ENST00000315367 [[96146031, 96146258], [96166258, 96168912]] [[96166272, 96167022]]
ENST00000519516 [[96146303, 96146559], [96166258, 96167146]] [[96166272, 96167022]]
NM_024613 [[96145948, 96146258], [96166258, 96168913]] [[96166272, 96167022]]
Promoter
Chrom Start End Description
chr8 96145942 96145954 CAGE_peak_6_at_PLEKHF2_5end
chr8 96145974 96146041 CAGE_peak_1_at_PLEKHF2_5end
chr8 96146053 96146079 CAGE_peak_4_at_PLEKHF2_5end
chr8 96146086 96146125 CAGE_peak_3_at_PLEKHF2_5end
chr8 96146132 96146155 CAGE_peak_2_at_PLEKHF2_5end
chr8 96146168 96146183 CAGE_peak_5_at_PLEKHF2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
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 GH08I095051 95051602 95052800 0.4 [{'connected_gene': 'PLEKHF2', 'score': 10.99}, {'connected_gene': 'CCNE2', 'score': 10.46}, {'connected_gene': 'INTS8', 'score': 5.56}, {'connected_gene': 'RNU6-1209P', 'score': 0.77}, {'connected_gene': 'GC08P094978', 'score': 0.19}, {'connected_gene': 'NDUFAF6', 'score': 0.1}]
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 GH08I095220 95220102 95221871 0.43 [{'connected_gene': 'PLEKHF2', 'score': 10.54}, {'connected_gene': 'C8orf37', 'score': 4.8}, {'connected_gene': 'LINC01298', 'score': 0.77}, {'connected_gene': 'C8orf37-AS1', 'score': 0.37}, {'connected_gene': 'TRS-AGA2-5', 'score': 0.25}]
chr8 GH08I095228 95228363 95230580 1.09 [{'connected_gene': 'PLEKHF2', 'score': 10.92}, {'connected_gene': 'C8orf37', 'score': 5.86}, {'connected_gene': 'LINC01298', 'score': 0.39}, {'connected_gene': 'C8orf37-AS1', 'score': 0.31}, {'connected_gene': 'TRS-AGA2-5', '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 GH08I095094 95094788 95096555 0.63 [{'connected_gene': 'PLEKHF2', 'score': 12.78}, {'connected_gene': 'RNU6-1209P', 'score': 11.58}, {'connected_gene': 'DPY19L4', 'score': 4.6}, {'connected_gene': 'ENSG00000254248', 'score': 0.44}, {'connected_gene': 'MIR3150BHG', 'score': 0.29}, {'connected_gene': 'NDUFAF6', 'score': 0.08}]
chr8 GH08I095097 95097678 95098287 0.74 [{'connected_gene': 'PLEKHF2', 'score': 12.78}, {'connected_gene': 'RNU6-1209P', 'score': 11.58}, {'connected_gene': 'ENSG00000254248', 'score': 0.39}, {'connected_gene': 'MIR3150BHG', 'score': 0.29}, {'connected_gene': 'NDUFAF6', 'score': 0.08}]
chr8 GH08I095196 95196473 95196622 0.31 [{'connected_gene': 'PLEKHF2', 'score': 11.62}, {'connected_gene': 'RNU6-1209P', 'score': 10.92}, {'connected_gene': 'C8orf37-AS1', 'score': 0.44}, {'connected_gene': 'GC08P095140', 'score': 0.22}]
chr8 GH08I095198 95198253 95198402 0.43 [{'connected_gene': 'PLEKHF2', 'score': 11.62}, {'connected_gene': 'RNU6-1209P', 'score': 10.92}, {'connected_gene': 'C8orf37-AS1', 'score': 0.44}, {'connected_gene': 'GC08P095140', 'score': 0.22}]
chr8 GH08I095098 95098858 95102757 1.4 [{'connected_gene': 'PLEKHF2', 'score': 12.5}, {'connected_gene': 'MIR3150BHG', 'score': 10.52}, {'connected_gene': 'ESRP1', 'score': 5.84}, {'connected_gene': 'ENSG00000254248', 'score': 0.39}, {'connected_gene': 'NDUFAF6', 'score': 0.08}]
chr8 GH08I095089 95089587 95094408 1.72 [{'connected_gene': 'PLEKHF2', 'score': 37.33}, {'connected_gene': 'MIR3150BHG', 'score': 18.87}, {'connected_gene': 'RNU6-1209P', 'score': 11.6}, {'connected_gene': 'INTS8', 'score': 5.85}, {'connected_gene': 'ENSG00000254248', 'score': 0.77}, {'connected_gene': 'NDUFAF6', 'score': 0.08}]
chr8 GH08I095207 95207723 95208913 0.69 [{'connected_gene': 'PLEKHF2', 'score': 11.8}, {'connected_gene': 'C8orf37-AS1', 'score': 0.77}, {'connected_gene': 'LINC01298', 'score': 0.44}, {'connected_gene': 'GC08M095215', 'score': 0.44}]
chr8 GH08I095194 95193913 95194062 0.2 [{'connected_gene': 'PLEKHF2', 'score': 11.41}, {'connected_gene': 'C8orf37-AS1', 'score': 0.39}, {'connected_gene': 'GC08P095140', 'score': 0.23}]
chr8 GH08I095181 95181037 95182632 1.44 [{'connected_gene': 'PLEKHF2', 'score': 12.07}, {'connected_gene': 'ENSG00000254248', 'score': 11.27}, {'connected_gene': 'C8orf37-AS1', 'score': 0.34}, {'connected_gene': 'GC08P095140', 'score': 0.26}]
chr8 GH08I095168 95168654 95169022 1.13 [{'connected_gene': 'PLEKHF2', 'score': 4.11}, {'connected_gene': 'GC08P095140', 'score': 0.31}, {'connected_gene': 'C8orf37-AS1', 'score': 0.28}]
chr8 GH08I095177 95177152 95178602 0.52 [{'connected_gene': 'PLEKHF2', 'score': 11.15}, {'connected_gene': 'C8orf37-AS1', 'score': 0.31}, {'connected_gene': 'GC08P095140', 'score': 0.28}]
chr8 GH08I095193 95193093 95193242 0.75 [{'connected_gene': 'PLEKHF2', 'score': 11.42}, {'connected_gene': 'C8orf37-AS1', 'score': 0.39}, {'connected_gene': 'GC08P095140', 'score': 0.23}]
chr8 GH08I095117 95117512 95117830 0.84 [{'connected_gene': 'PLEKHF2', 'score': 16.93}, {'connected_gene': 'ENSG00000254248', 'score': 0.31}]
chr8 GH08I095120 95120938 95121150 0.56 [{'connected_gene': 'PLEKHF2', 'score': 22.48}, {'connected_gene': 'ENSG00000254248', 'score': 12.29}]
chr8 GH08I095129 95129264 95131866 1.15 [{'connected_gene': 'PLEKHF2', 'score': 0.77}, {'connected_gene': 'ENSG00000254248', 'score': 0.26}]
chr8 GH08I095122 95122690 95122851 0.25 [{'connected_gene': 'PLEKHF2', 'score': 22.04}, {'connected_gene': 'ENSG00000254248', 'score': 0.29}]
chr8 GH08I095215 95215001 95215200 0.69 [{'connected_gene': 'LINC01298', 'score': 550.77}, {'connected_gene': 'GC08M095215', 'score': 550.77}, {'connected_gene': 'PLEKHF2', 'score': 11.65}, {'connected_gene': 'C8orf37-AS1', 'score': 0.39}]
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 GH08I095230 95230917 95231881 0.58 [{'connected_gene': 'RNU6-1209P', 'score': 11.25}, {'connected_gene': 'PLEKHF2', 'score': 11.11}, {'connected_gene': 'C8orf37', 'score': 5.9}, {'connected_gene': 'LINC01298', 'score': 0.37}, {'connected_gene': 'C8orf37-AS1', 'score': 0.31}, {'connected_gene': 'TRS-AGA2-5', 'score': 0.28}]
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 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 GH08I095149 95149204 95150639 0.46 [{'connected_gene': 'MIR3150BHG', 'score': 6.78}, {'connected_gene': 'GC08P095140', 'score': 0.44}, {'connected_gene': 'PLEKHF2', 'score': 0.37}, {'connected_gene': 'C8orf37-AS1', 'score': 0.23}]
chr8 GH08I095204 95204413 95204502 0.31 [{'connected_gene': 'C8orf37-AS1', 'score': 550.77}, {'connected_gene': 'PLEKHF2', 'score': 11.8}, {'connected_gene': 'GC08M095215', 'score': 0.39}]
chr8 GH08I095071 95071409 95076910 1.68 [{'connected_gene': 'MIR3150A', 'score': 550.77}, {'connected_gene': 'MIR3150B', 'score': 550.77}, {'connected_gene': 'MIR3150BHG', 'score': 29.17}, {'connected_gene': 'INTS8', 'score': 19.16}, {'connected_gene': 'PLEKHF2', 'score': 17.24}, {'connected_gene': 'VIRMA', 'score': 16.96}, {'connected_gene': 'ENSG00000254248', 'score': 0.39}, {'connected_gene': 'NDUFAF6', 'score': 0.1}]
chr8 GH08I095223 95223053 95227552 1.38 [{'connected_gene': 'ENSG00000254248', 'score': 11.33}, {'connected_gene': 'PLEKHF2', 'score': 11.1}, {'connected_gene': 'CCNE2', 'score': 10.31}, {'connected_gene': 'C8orf37', 'score': 5.46}, {'connected_gene': 'LINC01298', 'score': 0.44}, {'connected_gene': 'C8orf37-AS1', 'score': 0.34}, {'connected_gene': 'TRS-AGA2-5', 'score': 0.26}]
chr8 GH08I095154 95154513 95154662 0.38 [{'connected_gene': 'GC08P095140', 'score': 0.39}, {'connected_gene': 'PLEKHF2', 'score': 0.34}, {'connected_gene': 'C8orf37-AS1', 'score': 0.25}]
chr8 GH08I095152 95152428 95153596 0.43 [{'connected_gene': 'GC08P095140', 'score': 0.39}, {'connected_gene': 'PLEKHF2', 'score': 0.37}, {'connected_gene': 'C8orf37-AS1', '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}]
chr8 GH08I095114 95114185 95117017 1.29 [{'connected_gene': 'ENSG00000254248', 'score': 11.99}, {'connected_gene': 'RNU6-1209P', 'score': 11.38}, {'connected_gene': 'MIR3150BHG', 'score': 10.23}, {'connected_gene': 'PLEKHF2', 'score': 0.37}, {'connected_gene': 'NDUFAF6', 'score': 0.07}]
chr8 GH08I095110 95110859 95114000 1.34 [{'connected_gene': 'ENSG00000254248', 'score': 12.02}, {'connected_gene': 'RNU6-1209P', 'score': 11.4}, {'connected_gene': 'MIR3150BHG', 'score': 10.36}, {'connected_gene': 'PLEKHF2', 'score': 0.34}, {'connected_gene': 'NDUFAF6', 'score': 0.08}]
chr8 GH08I095086 95086801 95089345 0.96 [{'connected_gene': 'ENSG00000254248', 'score': 550.77}, {'connected_gene': 'MIR3150BHG', 'score': 17.2}, {'connected_gene': 'PLEKHF2', 'score': 0.25}, {'connected_gene': 'NDUFAF6', 'score': 0.08}]

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