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
ENST00000577702 [[61627821, 61628176], [61655830, 61655989], [61656697, 61656809], [61657185, 61657304], [61660862, 61661073], [61662572, 61662690], [61666361, 61671628]] None
ENST00000310827 [[61627821, 61628176], [61655830, 61655989], [61656697, 61656809], [61657185, 61657304], [61660862, 61660889], [61660890, 61661073], [61662572, 61662690], [61666361, 61671639]] [[61628038, 61628176], [61655830, 61655989], [61656697, 61656809], [61657185, 61657304], [61660862, 61660889], [61660890, 61661073], [61662572, 61662690], [61666361, 61666534]]
ENST00000431926 [[61627842, 61628176], [61655830, 61655989], [61656697, 61656809], [61657185, 61657211], [61666612, 61666675]] [[61628038, 61628176], [61655830, 61655989], [61656697, 61656809], [61657185, 61657211], [61666612, 61666675]]
ENST00000582103 [[61627842, 61628176], [61655830, 61655989], [61656697, 61656809], [61657185, 61657304], [61660862, 61661073], [61662572, 61662690], [61666361, 61666599], [61671564, 61671628]] None
ENST00000415273 [[61627860, 61628176], [61662572, 61662690], [61666361, 61667147]] [[61628038, 61628176], [61662572, 61662690], [61666361, 61666534]]
ENST00000582274 [[61627870, 61628176], [61629681, 61629916]] None
ENST00000585252 [[61627907, 61628176], [61656697, 61656809], [61657185, 61657304], [61660862, 61661073], [61662572, 61662613]] None
ENST00000580091 [[61666425, 61666599], [61668352, 61668446], [61671564, 61671621]] None
NR_073585 [[61627795, 61628176], [61655830, 61655989], [61656697, 61656809], [61657185, 61657304], [61660862, 61661073], [61662572, 61662690], [61666361, 61666599], [61671564, 61671641]] None
NM_005828 [[61627795, 61628176], [61655830, 61655989], [61656697, 61656809], [61657185, 61657304], [61660862, 61660894], [61660895, 61661073], [61662572, 61662690], [61666361, 61671641]] [[61628038, 61628176], [61655830, 61655989], [61656697, 61656809], [61657185, 61657304], [61660862, 61660894], [61660895, 61661073], [61662572, 61662690], [61666361, 61666534]]
Promoter
Chrom Start End Description
chr17 61627814 61627871 CAGE_peak_1_at_DCAF7_5end
chr17 61627884 61627898 CAGE_peak_3_at_DCAF7_5end
chr17 61627916 61627978 CAGE_peak_2_at_DCAF7_5end
chr17 61627981 61627984 CAGE_peak_6_at_DCAF7_5end
chr17 61627989 61628006 CAGE_peak_4_at_DCAF7_5end
chr17 61666563 61666573 CAGE_peak_5_at_DCAF7_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I062625 62625578 62631464 2.13 [{'connected_gene': 'MRC2', 'score': 557.57}, {'connected_gene': 'ENSG00000274565', 'score': 550.77}, {'connected_gene': 'TLK2', 'score': 15.99}, {'connected_gene': 'INTS2', 'score': 12.69}, {'connected_gene': 'MED13', 'score': 12.56}, {'connected_gene': 'DCAF7', 'score': 10.47}, {'connected_gene': 'ENSG00000277463', 'score': 0.77}, {'connected_gene': 'GC17P062639', 'score': 0.39}]
chr17 GH17I063740 63740213 63743704 2.1 [{'connected_gene': 'STRADA', 'score': 550.77}, {'connected_gene': 'FTSJ3', 'score': 100.04}, {'connected_gene': 'DDX5', 'score': 44.09}, {'connected_gene': 'SMARCD2', 'score': 35.58}, {'connected_gene': 'POLG2', 'score': 28.83}, {'connected_gene': 'CEP95', 'score': 25.02}, {'connected_gene': 'DDX42', 'score': 20.46}, {'connected_gene': 'ENSG00000281311', 'score': 18.87}, {'connected_gene': 'CSH2', 'score': 16.77}, {'connected_gene': 'EEF1DP7', 'score': 12.63}, {'connected_gene': 'MAP3K3', 'score': 12.6}, {'connected_gene': 'DCAF7', 'score': 10.53}, {'connected_gene': 'ENSG00000125695', 'score': 0.39}, {'connected_gene': 'PIR56154', 'score': 0.29}]
chr17 GH17I063720 63720760 63720819 0.5 [{'connected_gene': 'STRADA', 'score': 563.13}, {'connected_gene': 'ENSG00000125695', 'score': 13.08}, {'connected_gene': 'DCAF7', 'score': 9.95}, {'connected_gene': 'PIR56154', 'score': 0.39}]
chr17 GH17I063518 63518018 63524043 1.68 [{'connected_gene': 'KCNH6', 'score': 563.31}, {'connected_gene': 'FTSJ3', 'score': 23.48}, {'connected_gene': 'POLG2', 'score': 16.19}, {'connected_gene': 'CEP95', 'score': 10.33}, {'connected_gene': 'DCAF7', 'score': 4.29}, {'connected_gene': 'ACE3P', 'score': 0.39}, {'connected_gene': 'ENSG00000264813', 'score': 0.28}]
chr17 GH17I063837 63837290 63844652 2.62 [{'connected_gene': 'SMARCD2', 'score': 577.36}, {'connected_gene': 'GC17P063839', 'score': 550.77}, {'connected_gene': 'FTSJ3', 'score': 118.43}, {'connected_gene': 'CEP95', 'score': 72.38}, {'connected_gene': 'POLG2', 'score': 70.79}, {'connected_gene': 'DDX42', 'score': 63.81}, {'connected_gene': 'ENSG00000265982', 'score': 54.5}, {'connected_gene': 'PLEKHM1P1', 'score': 42.42}, {'connected_gene': 'DDX5', 'score': 38.32}, {'connected_gene': 'DCAF7', 'score': 21.25}, {'connected_gene': 'CSH2', 'score': 19.49}, {'connected_gene': 'SMURF2', 'score': 19.22}, {'connected_gene': 'ENSG00000281311', 'score': 14.11}, {'connected_gene': 'ERN1', 'score': 11.38}, {'connected_gene': 'EEF1DP7', 'score': 10.14}, {'connected_gene': 'MAP3K3', 'score': 9.88}, {'connected_gene': 'PSMC5', 'score': 4.79}, {'connected_gene': 'GC17P063832', 'score': 0.44}]
chr17 GH17I063600 63600030 63602522 2.15 [{'connected_gene': 'TACO1', 'score': 550.77}, {'connected_gene': 'DDX42', 'score': 46.41}, {'connected_gene': 'CEP95', 'score': 46.16}, {'connected_gene': 'FTSJ3', 'score': 42.55}, {'connected_gene': 'POLG2', 'score': 41.9}, {'connected_gene': 'DDX5', 'score': 32.07}, {'connected_gene': 'SMARCD2', 'score': 25.15}, {'connected_gene': 'DCAF7', 'score': 21.92}, {'connected_gene': 'ENSG00000281311', 'score': 20.59}, {'connected_gene': 'RNU6-288P', 'score': 11.41}, {'connected_gene': 'EEF1DP7', 'score': 11.26}, {'connected_gene': 'LIMD2', 'score': 10.71}, {'connected_gene': 'MAP3K3', 'score': 10.44}, {'connected_gene': 'CYB561', 'score': 10.34}, {'connected_gene': 'TCAM1P', 'score': 9.88}, {'connected_gene': 'GC17M063602', 'score': 0.44}]
chr17 GH17I063579 63579286 63580510 0.82 [{'connected_gene': 'TACO1', 'score': 12.1}, {'connected_gene': 'DCAF7', 'score': 11.65}, {'connected_gene': 'CYB561', 'score': 11.3}, {'connected_gene': 'ACE', 'score': 11.13}, {'connected_gene': 'PPIAP55', 'score': 11.13}, {'connected_gene': 'GC17M063574', 'score': 0.44}, {'connected_gene': 'RNU6-288P', 'score': 0.44}, {'connected_gene': 'PIR51747', 'score': 0.39}]
chr17 GH17I063621 63621041 63624158 2.29 [{'connected_gene': 'MAP3K3', 'score': 569.01}, {'connected_gene': 'FTSJ3', 'score': 76.15}, {'connected_gene': 'POLG2', 'score': 62.92}, {'connected_gene': 'CEP95', 'score': 55.63}, {'connected_gene': 'DDX42', 'score': 49.1}, {'connected_gene': 'DDX5', 'score': 40.4}, {'connected_gene': 'SMARCD2', 'score': 22.43}, {'connected_gene': 'EEF1DP7', 'score': 19.74}, {'connected_gene': 'ENSG00000281311', 'score': 11.64}, {'connected_gene': 'DCAF7', 'score': 9.84}, {'connected_gene': 'GC17P063614', 'score': 0.44}, {'connected_gene': 'GC17M063634', 'score': 0.39}]
chr17 GH17I063612 63612200 63612600 1.06 [{'connected_gene': 'LOC390806', 'score': 550.77}, {'connected_gene': 'CYB561', 'score': 11.43}, {'connected_gene': 'ACE', 'score': 11.14}, {'connected_gene': 'PPIAP55', 'score': 11.13}, {'connected_gene': 'DCAF7', 'score': 11.12}, {'connected_gene': 'GC17P063614', 'score': 0.77}]
chr17 GH17I064500 64500923 64508621 2.35 [{'connected_gene': 'DDX5', 'score': 642.74}, {'connected_gene': 'CEP95', 'score': 642.15}, {'connected_gene': 'POLG2', 'score': 101.02}, {'connected_gene': 'FTSJ3', 'score': 96.75}, {'connected_gene': 'DDX42', 'score': 85.92}, {'connected_gene': 'PLEKHM1P1', 'score': 78.68}, {'connected_gene': 'ENSG00000265982', 'score': 76.09}, {'connected_gene': 'SMARCD2', 'score': 75.52}, {'connected_gene': 'SLC16A6P1', 'score': 74.16}, {'connected_gene': 'ENSG00000281311', 'score': 39.55}, {'connected_gene': 'MAP3K3', 'score': 25.38}, {'connected_gene': 'EEF1DP7', 'score': 22.76}, {'connected_gene': 'SMURF2', 'score': 20.79}, {'connected_gene': 'ERN1', 'score': 11.37}, {'connected_gene': 'ENSG00000264057', 'score': 10.8}, {'connected_gene': 'ENSG00000265912', 'score': 10.61}, {'connected_gene': 'MILR1', 'score': 10.54}, {'connected_gene': 'DCAF7', 'score': 10.47}, {'connected_gene': 'ENSG00000265218', 'score': 10.2}, {'connected_gene': 'MIR5047', 'score': 0.77}]
chr17 GH17I063517 63517060 63517509 0.85 [{'connected_gene': 'DDX5', 'score': 19.48}, {'connected_gene': 'SMARCD2', 'score': 18.96}, {'connected_gene': 'FTSJ3', 'score': 18.62}, {'connected_gene': 'POLG2', 'score': 17.42}, {'connected_gene': 'CEP95', 'score': 15.14}, {'connected_gene': 'ENSG00000281311', 'score': 13.03}, {'connected_gene': 'EEF1DP7', 'score': 12.13}, {'connected_gene': 'DCAF7', 'score': 12.0}, {'connected_gene': 'ACE', 'score': 11.99}, {'connected_gene': 'PPIAP55', 'score': 11.98}, {'connected_gene': 'MAP3K3', 'score': 11.9}, {'connected_gene': 'DDX42', 'score': 11.9}, {'connected_gene': 'CYB561', 'score': 11.32}, {'connected_gene': 'RNU6-288P', 'score': 11.01}, {'connected_gene': 'KCNH6', 'score': 0.44}, {'connected_gene': 'ACE3P', 'score': 0.39}, {'connected_gene': 'ENSG00000264813', 'score': 0.29}]
chr17 GH17I063425 63425520 63425669 0.83 [{'connected_gene': 'CYB561', 'score': 13.03}, {'connected_gene': 'PPIAP55', 'score': 12.21}, {'connected_gene': 'ACE', 'score': 12.2}, {'connected_gene': 'TACO1', 'score': 11.35}, {'connected_gene': 'DCAF7', 'score': 10.8}, {'connected_gene': 'ENSG00000263644', 'score': 0.44}, {'connected_gene': 'LOC105371856', 'score': 0.39}, {'connected_gene': 'GC17M063420', 'score': 0.37}, {'connected_gene': 'TANC2', 'score': 0.05}]
chr17 GH17I063423 63423401 63423800 0.58 [{'connected_gene': 'CYB561', 'score': 13.03}, {'connected_gene': 'PPIAP55', 'score': 12.21}, {'connected_gene': 'ACE', 'score': 12.2}, {'connected_gene': 'TACO1', 'score': 11.35}, {'connected_gene': 'DCAF7', 'score': 10.81}, {'connected_gene': 'ENSG00000265971', 'score': 4.67}, {'connected_gene': 'ENSG00000263644', 'score': 0.44}, {'connected_gene': 'LOC105371856', 'score': 0.44}, {'connected_gene': 'GC17M063420', 'score': 0.37}, {'connected_gene': 'TANC2', 'score': 0.05}]
chr17 GH17I062789 62789199 62795115 1.66 [{'connected_gene': 'DDX42', 'score': 47.57}, {'connected_gene': 'MED13', 'score': 21.99}, {'connected_gene': 'INTS2', 'score': 21.78}, {'connected_gene': 'RPS10P26', 'score': 11.95}, {'connected_gene': 'MIR633', 'score': 10.6}, {'connected_gene': 'METTL2A', 'score': 10.08}, {'connected_gene': 'TLK2', 'score': 9.93}, {'connected_gene': 'DCAF7', 'score': 9.68}, {'connected_gene': 'MARCH10', 'score': 5.64}, {'connected_gene': 'GC17M062789', 'score': 0.77}, {'connected_gene': 'GC17M062752', 'score': 0.29}]
chr17 GH17I063549 63549057 63552943 2.35 [{'connected_gene': 'DCAF7', 'score': 555.71}, {'connected_gene': 'FTSJ3', 'score': 52.71}, {'connected_gene': 'DDX42', 'score': 38.63}, {'connected_gene': 'POLG2', 'score': 36.62}, {'connected_gene': 'CEP95', 'score': 34.75}, {'connected_gene': 'RNU6-288P', 'score': 12.05}, {'connected_gene': 'TACO1', 'score': 11.62}, {'connected_gene': 'CYB561', 'score': 11.33}, {'connected_gene': 'ACE', 'score': 11.19}, {'connected_gene': 'PPIAP55', 'score': 11.18}, {'connected_gene': 'DDX5', 'score': 10.55}, {'connected_gene': 'SMARCD2', 'score': 10.53}, {'connected_gene': 'GC17P063567', 'score': 0.37}]
chr17 GH17I063484 63484840 63484942 1.1 [{'connected_gene': 'ENSG00000264813', 'score': 550.77}, {'connected_gene': 'ACE', 'score': 550.44}, {'connected_gene': 'CYB561', 'score': 11.97}, {'connected_gene': 'DCAF7', 'score': 11.34}, {'connected_gene': 'TACO1', 'score': 11.2}, {'connected_gene': 'ACE3P', 'score': 0.34}]
chr17 GH17I063571 63571721 63572589 1 [{'connected_gene': 'GC17M063574', 'score': 550.77}, {'connected_gene': 'RNU6-288P', 'score': 550.77}, {'connected_gene': 'DCAF7', 'score': 11.92}, {'connected_gene': 'TACO1', 'score': 10.91}, {'connected_gene': 'CYB561', 'score': 10.47}, {'connected_gene': 'GC17M063565', 'score': 0.77}]
chr17 GH17I063578 63578440 63578589 0.89 [{'connected_gene': 'GC17M063574', 'score': 0.44}, {'connected_gene': 'RNU6-288P', 'score': 0.44}, {'connected_gene': 'PIR51747', 'score': 0.39}, {'connected_gene': 'DCAF7', 'score': 0.31}]

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