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
ENST00000524076 [[66933794, 66933940], [66955722, 66955846], [66988894, 66989108], [66992611, 66992700]] None
ENST00000276570 [[66933794, 66933940], [66955722, 66955846], [66963765, 66963901], [66988894, 66989108], [66992611, 66992783], [67012171, 67012751]] [[66963782, 66963901], [66988894, 66989108], [66992611, 66992783], [67012171, 67012266]]
ENST00000519330 [[66933848, 66933940], [66955722, 66955846], [66963765, 66963901], [66968700, 66970244], [66988894, 66989108], [66992611, 66992783], [67012171, 67012369]] None
ENST00000522619 [[66955711, 66955846], [66963765, 66963901], [66988894, 66989064]] [[66963782, 66963901], [66988894, 66989064]]
NM_033105 [[66933790, 66933940], [66955722, 66955846], [66963765, 66963901], [66988894, 66989108], [66992611, 66992783], [67012171, 67012755]] [[66963782, 66963901], [66988894, 66989108], [66992611, 66992783], [67012171, 67012266]]
Promoter
Chrom Start End Description
chr8 66933779 66933800 CAGE_peak_1_at_DNAJC5B_5end
chr8 66933805 66933809 CAGE_peak_3_at_DNAJC5B_5end
chr8 66955648 66955654 CAGE_peak_6_at_DNAJC5B_5end
chr8 66955817 66955844 CAGE_peak_2_at_DNAJC5B_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I065755 65755149 65760089 0.52 [{'connected_gene': 'MTFR1', 'score': 26.44}, {'connected_gene': 'ENSG00000272010', 'score': 15.94}, {'connected_gene': 'DNAJC5B', 'score': 10.97}, {'connected_gene': 'ADHFE1', 'score': 10.05}, {'connected_gene': 'RRS1', 'score': 10.05}, {'connected_gene': 'RRS1-AS1', 'score': 10.05}, {'connected_gene': 'GC08P065773', 'score': 0.37}, {'connected_gene': 'GC08M065706', 'score': 0.31}, {'connected_gene': 'PDE7A', 'score': 0.18}]
chr8 GH08I065782 65782971 65783771 0.2 [{'connected_gene': 'MTFR1', 'score': 16.72}, {'connected_gene': 'PDE7A', 'score': 11.54}, {'connected_gene': 'DNAJC5B', 'score': 10.58}, {'connected_gene': 'ADHFE1', 'score': 10.36}, {'connected_gene': 'RRS1', 'score': 10.36}, {'connected_gene': 'RRS1-AS1', 'score': 10.36}, {'connected_gene': 'LINC01299', 'score': 6.13}, {'connected_gene': 'GC08P065773', 'score': 0.39}, {'connected_gene': 'GC08M065824', 'score': 0.26}]
chr8 GH08I065991 65991123 65992366 0.38 [{'connected_gene': 'DNAJC5B', 'score': 11.46}, {'connected_gene': 'MTFR1', 'score': 9.27}, {'connected_gene': 'PDE7A', 'score': 6.25}, {'connected_gene': 'ENSG00000272010', 'score': 4.41}, {'connected_gene': 'GC08M065983', 'score': 0.44}, {'connected_gene': 'GC08P066013', 'score': 0.34}, {'connected_gene': 'LOC105375883', 'score': 0.29}]
chr8 GH08I065777 65777221 65779968 0.43 [{'connected_gene': 'DNAJC5B', 'score': 10.74}, {'connected_gene': 'MTFR1', 'score': 7.03}, {'connected_gene': 'GC08P065773', 'score': 0.44}, {'connected_gene': 'GC08M065824', 'score': 0.25}, {'connected_gene': 'PDE7A', 'score': 0.21}]
chr8 GH08I065972 65972783 65975397 1.46 [{'connected_gene': 'DNAJC5B', 'score': 11.81}, {'connected_gene': 'MTFR1', 'score': 8.53}, {'connected_gene': 'LINC01299', 'score': 5.28}, {'connected_gene': 'ENSG00000272010', 'score': 4.94}, {'connected_gene': 'PDE7A', 'score': 1.3}, {'connected_gene': 'GC08M065983', 'score': 0.44}, {'connected_gene': 'GC08P065965', 'score': 0.44}]
chr8 GH08I066031 66031988 66034395 1.42 [{'connected_gene': 'DNAJC5B', 'score': 550.37}, {'connected_gene': 'LINC01299', 'score': 4.52}, {'connected_gene': 'ENSG00000272010', 'score': 4.17}, {'connected_gene': 'LOC105375883', 'score': 0.44}, {'connected_gene': 'GC08P066013', 'score': 0.34}, {'connected_gene': 'GC08M066089', 'score': 0.2}]
chr8 GH08I065959 65959926 65960721 0.54 [{'connected_gene': 'DNAJC5B', 'score': 12.02}, {'connected_gene': 'RRS1', 'score': 9.93}, {'connected_gene': 'ADHFE1', 'score': 9.93}, {'connected_gene': 'RRS1-AS1', 'score': 9.93}, {'connected_gene': 'MTFR1', 'score': 8.79}, {'connected_gene': 'GC08P065965', 'score': 0.44}, {'connected_gene': 'GC08M065874', 'score': 0.17}]
chr8 GH08I065763 65763238 65763959 0.2 [{'connected_gene': 'DNAJC5B', 'score': 10.97}, {'connected_gene': 'RRS1', 'score': 10.05}, {'connected_gene': 'ADHFE1', 'score': 10.05}, {'connected_gene': 'RRS1-AS1', 'score': 10.05}, {'connected_gene': 'GC08P065773', 'score': 0.44}, {'connected_gene': 'GC08M065706', 'score': 0.28}, {'connected_gene': 'PDE7A', 'score': 0.18}, {'connected_gene': 'MTFR1', 'score': 0.13}]
chr8 GH08I066041 66041801 66042815 0.51 [{'connected_gene': 'DNAJC5B', 'score': 11.63}, {'connected_gene': 'CRH', 'score': 10.88}, {'connected_gene': 'TRIM55', 'score': 10.32}, {'connected_gene': 'ENSG00000272010', 'score': 6.39}, {'connected_gene': 'LOC105375883', 'score': 0.37}, {'connected_gene': 'GC08P066013', 'score': 0.31}, {'connected_gene': 'GC08M066089', 'score': 0.22}]
chr8 GH08I066045 66045640 66046431 0.43 [{'connected_gene': 'DNAJC5B', 'score': 10.7}, {'connected_gene': 'ADHFE1', 'score': 10.56}, {'connected_gene': 'RRS1', 'score': 10.56}, {'connected_gene': 'RRS1-AS1', 'score': 10.56}, {'connected_gene': 'CRH', 'score': 10.49}, {'connected_gene': 'MTFR1', 'score': 9.63}, {'connected_gene': 'LOC105375883', 'score': 0.34}, {'connected_gene': 'GC08P066013', 'score': 0.29}, {'connected_gene': 'GC08M066089', 'score': 0.22}]
chr8 GH08I065836 65836624 65843595 2.54 [{'connected_gene': 'PDE7A', 'score': 554.38}, {'connected_gene': 'MTFR1', 'score': 15.46}, {'connected_gene': 'DNAJC5B', 'score': 10.57}, {'connected_gene': 'LINC01299', 'score': 6.62}, {'connected_gene': 'ENSG00000272192', 'score': 0.77}, {'connected_gene': 'GC08M065824', 'score': 0.39}]
chr8 GH08I065944 65944443 65957102 1.75 [{'connected_gene': 'PDE7A', 'score': 18.93}, {'connected_gene': 'MTFR1', 'score': 13.34}, {'connected_gene': 'ARMC1', 'score': 11.15}, {'connected_gene': 'DNAJC5B', 'score': 11.01}, {'connected_gene': 'LINC01299', 'score': 5.29}, {'connected_gene': 'ENSG00000272010', 'score': 4.26}, {'connected_gene': 'RRS1', 'score': 1.29}, {'connected_gene': 'GC08P065965', 'score': 0.37}, {'connected_gene': 'GC08M065874', 'score': 0.18}]
chr8 GH08I066026 66026288 66030648 1.16 [{'connected_gene': 'PDE7A', 'score': 16.61}, {'connected_gene': 'MTFR1', 'score': 14.98}, {'connected_gene': 'ADHFE1', 'score': 10.71}, {'connected_gene': 'RRS1', 'score': 10.71}, {'connected_gene': 'RRS1-AS1', 'score': 10.71}, {'connected_gene': 'ENSG00000272010', 'score': 4.13}, {'connected_gene': 'LOC105375883', 'score': 0.77}, {'connected_gene': 'DNAJC5B', 'score': 0.39}, {'connected_gene': 'GC08P066013', 'score': 0.37}, {'connected_gene': 'GC08M066089', 'score': 0.19}]
chr8 GH08I065785 65785146 65785295 0.63 [{'connected_gene': 'PDE7A', 'score': 11.54}, {'connected_gene': 'DNAJC5B', 'score': 10.58}, {'connected_gene': 'RRS1', 'score': 10.36}, {'connected_gene': 'ADHFE1', 'score': 10.36}, {'connected_gene': 'RRS1-AS1', 'score': 10.36}, {'connected_gene': 'GC08P065773', 'score': 0.39}, {'connected_gene': 'GC08M065824', 'score': 0.26}]
chr8 GH08I065780 65780520 65781778 0.31 [{'connected_gene': 'PDE7A', 'score': 11.53}, {'connected_gene': 'DNAJC5B', 'score': 10.74}, {'connected_gene': 'RRS1', 'score': 10.36}, {'connected_gene': 'ADHFE1', 'score': 10.36}, {'connected_gene': 'RRS1-AS1', 'score': 10.36}, {'connected_gene': 'GC08P065773', 'score': 0.44}, {'connected_gene': 'GC08M065824', 'score': 0.25}]
chr8 GH08I065784 65784001 65784200 0.4 [{'connected_gene': 'PDE7A', 'score': 11.54}, {'connected_gene': 'DNAJC5B', 'score': 10.58}, {'connected_gene': 'RRS1', 'score': 10.36}, {'connected_gene': 'RRS1-AS1', 'score': 10.36}, {'connected_gene': 'ADHFE1', 'score': 10.36}, {'connected_gene': 'GC08P065773', 'score': 0.39}, {'connected_gene': 'GC08M065824', 'score': 0.26}]
chr8 GH08I065764 65764021 65764758 0.38 [{'connected_gene': 'PDE7A', 'score': 11.29}, {'connected_gene': 'DNAJC5B', 'score': 10.97}, {'connected_gene': 'ADHFE1', 'score': 10.05}, {'connected_gene': 'RRS1', 'score': 10.05}, {'connected_gene': 'RRS1-AS1', 'score': 10.05}, {'connected_gene': 'MTFR1', 'score': 9.94}, {'connected_gene': 'GC08P065773', 'score': 0.44}, {'connected_gene': 'GC08M065706', 'score': 0.28}]
chr8 GH08I065786 65786712 65787200 0.86 [{'connected_gene': 'PDE7A', 'score': 11.54}, {'connected_gene': 'DNAJC5B', 'score': 10.58}, {'connected_gene': 'ADHFE1', 'score': 10.36}, {'connected_gene': 'RRS1', 'score': 10.36}, {'connected_gene': 'RRS1-AS1', 'score': 10.36}, {'connected_gene': 'MTFR1', 'score': 4.87}, {'connected_gene': 'GC08P065773', 'score': 0.39}, {'connected_gene': 'GC08M065824', 'score': 0.28}]
chr8 GH08I065942 65942186 65942335 0.58 [{'connected_gene': 'PDE7A', 'score': 11.41}, {'connected_gene': 'DNAJC5B', 'score': 10.99}, {'connected_gene': 'GC08P065965', 'score': 0.34}, {'connected_gene': 'GC08M065874', 'score': 0.2}]
chr8 GH08I066063 66063808 66065853 0.96 [{'connected_gene': 'CRH', 'score': 12.48}, {'connected_gene': 'RRS1', 'score': 10.88}, {'connected_gene': 'RRS1-AS1', 'score': 10.88}, {'connected_gene': 'ADHFE1', 'score': 10.88}, {'connected_gene': 'GC08M066089', 'score': 0.28}, {'connected_gene': 'LOC105375883', 'score': 0.26}, {'connected_gene': 'DNAJC5B', 'score': 0.25}, {'connected_gene': 'GC08P066013', 'score': 0.23}]
chr8 GH08I066021 66021141 66023423 1.9 [{'connected_gene': 'LOC105375883', 'score': 550.77}, {'connected_gene': 'DNAJC5B', 'score': 550.44}, {'connected_gene': 'PDE7A', 'score': 16.02}, {'connected_gene': 'MTFR1', 'score': 11.4}, {'connected_gene': 'ADHFE1', 'score': 10.06}, {'connected_gene': 'RRS1', 'score': 10.06}, {'connected_gene': 'RRS1-AS1', 'score': 10.06}, {'connected_gene': 'GC08P066013', 'score': 0.44}, {'connected_gene': 'GC08M066012', 'score': 0.44}]
chr8 GH08I066039 66038681 66039275 0.2 [{'connected_gene': 'LOC105375883', 'score': 0.37}, {'connected_gene': 'DNAJC5B', 'score': 0.34}, {'connected_gene': 'GC08P066013', 'score': 0.31}, {'connected_gene': 'GC08M066089', 'score': 0.21}]
chr8 GH08I066038 66038446 66038663 0.2 [{'connected_gene': 'LOC105375883', 'score': 0.37}, {'connected_gene': 'DNAJC5B', 'score': 0.34}, {'connected_gene': 'GC08P066013', 'score': 0.31}, {'connected_gene': 'GC08M066089', 'score': 0.21}]
chr8 GH08I066020 66020966 66021115 0.75 [{'connected_gene': 'LOC105375883', 'score': 0.77}, {'connected_gene': 'GC08M066012', 'score': 0.77}, {'connected_gene': 'GC08P066013', 'score': 0.44}, {'connected_gene': 'DNAJC5B', 'score': 0.44}]
chr8 GH08I066036 66036401 66036755 0.82 [{'connected_gene': 'LOC105375883', 'score': 0.39}, {'connected_gene': 'GC08P066013', 'score': 0.34}, {'connected_gene': 'DNAJC5B', 'score': 0.34}, {'connected_gene': 'GC08M066089', 'score': 0.21}]
chr8 GH08I065963 65963941 65966095 0.97 [{'connected_gene': 'GC08P065965', 'score': 550.77}, {'connected_gene': 'DNAJC5B', 'score': 11.16}, {'connected_gene': 'RRS1', 'score': 9.93}, {'connected_gene': 'RRS1-AS1', 'score': 9.93}, {'connected_gene': 'ADHFE1', 'score': 9.93}, {'connected_gene': 'MTFR1', 'score': 8.79}, {'connected_gene': 'PDE7A', 'score': 5.83}, {'connected_gene': 'LINC01299', 'score': 5.29}, {'connected_gene': 'GC08M065874', 'score': 0.16}]
chr8 GH08I065760 65760966 65762595 1.05 [{'connected_gene': 'ENSG00000272010', 'score': 12.89}, {'connected_gene': 'DNAJC5B', 'score': 10.97}, {'connected_gene': 'ADHFE1', 'score': 10.05}, {'connected_gene': 'RRS1', 'score': 10.05}, {'connected_gene': 'RRS1-AS1', 'score': 10.05}, {'connected_gene': 'MTFR1', 'score': 7.27}, {'connected_gene': 'LINC01299', 'score': 6.37}, {'connected_gene': 'GC08P065773', 'score': 0.39}, {'connected_gene': 'GC08M065706', 'score': 0.29}, {'connected_gene': 'PDE7A', 'score': 0.18}]
chr8 GH08I065980 65980040 65984170 1.49 [{'connected_gene': 'GC08M065983', 'score': 550.77}, {'connected_gene': 'PDE7A', 'score': 17.47}, {'connected_gene': 'DNAJC5B', 'score': 11.81}, {'connected_gene': 'MTFR1', 'score': 8.55}, {'connected_gene': 'LINC01299', 'score': 5.27}, {'connected_gene': 'GC08P065965', 'score': 0.37}, {'connected_gene': 'LOC105375883', 'score': 0.26}]
chr8 GH08I066093 66093326 66093435 0.4 [{'connected_gene': 'GC08M066089', 'score': 0.44}, {'connected_gene': 'LOC105375883', 'score': 0.2}, {'connected_gene': 'DNAJC5B', 'score': 0.18}, {'connected_gene': 'GC08P066013', 'score': 0.18}]

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