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
ENST00000377474 [[77454311, 77460525]] [[77459305, 77460283]]
ENST00000317765 [[77455987, 77458565], [77459279, 77460540]] [[77459305, 77460283]]
NM_138444 [[77454303, 77460540]] [[77459305, 77460283]]
Promoter
Chrom Start End Description
chr13 77460443 77460490 CAGE_peak_4_at_KCTD12_5end
chr13 77460532 77460548 CAGE_peak_1_at_KCTD12_5end
chr13 77460563 77460571 CAGE_peak_9_at_KCTD12_5end
chr13 77460594 77460613 CAGE_peak_3_at_KCTD12_5end
chr13 77460635 77460654 CAGE_peak_2_at_KCTD12_5end
chr13 77460695 77460740 CAGE_peak_5_at_KCTD12_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I077324 77324747 77327861 2.51 [{'connected_gene': 'MYCBP2', 'score': 556.43}, {'connected_gene': 'CLN5', 'score': 4.41}, {'connected_gene': 'FBXL3', 'score': 4.11}, {'connected_gene': 'KCTD12', 'score': 1.46}, {'connected_gene': 'GC13P077273', 'score': 0.23}]
chr13 GH13I076945 76945790 76945895 0.22 [{'connected_gene': 'KCTD12', 'score': 4.6}, {'connected_gene': 'ACOD1', 'score': 0.77}, {'connected_gene': 'LOC105370269', 'score': 0.77}]
chr13 GH13I076831 76831920 76833624 0.31 [{'connected_gene': 'KCTD12', 'score': 10.87}, {'connected_gene': 'ACOD1', 'score': 9.6}, {'connected_gene': 'LOC105370265', 'score': 0.31}]
chr13 GH13I076878 76878790 76881399 0.88 [{'connected_gene': 'KCTD12', 'score': 6.55}, {'connected_gene': 'FBXL3', 'score': 1.43}, {'connected_gene': 'LOC105370265', 'score': 0.19}]
chr13 GH13I076820 76820138 76821566 0.31 [{'connected_gene': 'KCTD12', 'score': 11.32}, {'connected_gene': 'FBXL3', 'score': 4.12}, {'connected_gene': 'LOC105370265', 'score': 0.39}]
chr13 GH13I076811 76811809 76814135 0.49 [{'connected_gene': 'KCTD12', 'score': 11.61}, {'connected_gene': 'CLN5', 'score': 4.09}, {'connected_gene': 'LOC105370265', 'score': 0.44}]
chr13 GH13I076881 76881920 76887821 1.87 [{'connected_gene': 'KCTD12', 'score': 555.87}, {'connected_gene': 'CLN5', 'score': 5.57}, {'connected_gene': 'ENSG00000278727', 'score': 0.77}, {'connected_gene': 'LOC105370265', 'score': 0.18}]
chr13 GH13I076939 76939217 76939621 0.33 [{'connected_gene': 'KCTD12', 'score': 3.6}, {'connected_gene': 'LOC105370269', 'score': 0.77}, {'connected_gene': 'BTF3P11', 'score': 0.39}]
chr13 GH13I076709 76709605 76713128 0.72 [{'connected_gene': 'KCTD12', 'score': 21.13}, {'connected_gene': 'LOC105370266', 'score': 0.25}, {'connected_gene': 'GC13M076675', 'score': 0.22}, {'connected_gene': 'LOC105370265', 'score': 0.16}]
chr13 GH13I076714 76714928 76716286 0.31 [{'connected_gene': 'KCTD12', 'score': 16.19}, {'connected_gene': 'GC13M076675', 'score': 0.23}, {'connected_gene': 'LOC105370266', 'score': 0.23}, {'connected_gene': 'LOC105370265', 'score': 0.16}]
chr13 GH13I076722 76722721 76726234 0.91 [{'connected_gene': 'KCTD12', 'score': 11.26}, {'connected_gene': 'GC13M076675', 'score': 0.26}, {'connected_gene': 'LOC105370266', 'score': 0.21}, {'connected_gene': 'LOC105370265', 'score': 0.18}]
chr13 GH13I076636 76636977 76639279 0.43 [{'connected_gene': 'KCTD12', 'score': 15.18}, {'connected_gene': 'LOC105370266', 'score': 0.31}, {'connected_gene': 'GC13P076575', 'score': 0.21}]
chr13 GH13I076640 76640502 76642028 0.2 [{'connected_gene': 'KCTD12', 'score': 8.1}, {'connected_gene': 'LOC105370266', 'score': 0.34}, {'connected_gene': 'GC13P076575', 'score': 0.2}]
chr13 GH13I076622 76622286 76623522 0.38 [{'connected_gene': 'KCTD12', 'score': 8.3}, {'connected_gene': 'LOC105370266', 'score': 0.26}, {'connected_gene': 'GC13P076575', 'score': 0.25}]
chr13 GH13I076874 76874201 76874908 0.31 [{'connected_gene': 'KCTD12', 'score': 0.39}, {'connected_gene': 'LOC105370265', 'score': 0.2}]
chr13 GH13I076799 76799401 76799955 0.58 [{'connected_gene': 'KCTD12', 'score': 11.65}, {'connected_gene': 'LOC105370265', 'score': 0.44}, {'connected_gene': 'GC13P076773', 'score': 0.31}]
chr13 GH13I076791 76790800 76791600 0.31 [{'connected_gene': 'KCTD12', 'score': 11.58}, {'connected_gene': 'LOC105370265', 'score': 0.39}, {'connected_gene': 'GC13P076773', 'score': 0.37}]
chr13 GH13I076796 76796809 76797323 0.2 [{'connected_gene': 'KCTD12', 'score': 11.65}, {'connected_gene': 'LOC105370265', 'score': 0.44}, {'connected_gene': 'GC13P076773', 'score': 0.34}]
chr13 GH13I076790 76790461 76790624 0.22 [{'connected_gene': 'KCTD12', 'score': 11.58}, {'connected_gene': 'LOC105370265', 'score': 0.37}, {'connected_gene': 'GC13P076773', 'score': 0.37}]
chr13 GH13I076860 76860846 76860995 0.2 [{'connected_gene': 'KCTD12', 'score': 0.31}, {'connected_gene': 'LOC105370265', 'score': 0.23}]
chr13 GH13I076797 76796026 76796175 0.2 [{'connected_gene': 'KCTD12', 'score': 11.04}, {'connected_gene': 'LOC105370265', 'score': 0.44}, {'connected_gene': 'GC13P076773', 'score': 0.34}]
chr13 GH13I076852 76852571 76856750 0.72 [{'connected_gene': 'KCTD12', 'score': 0.29}, {'connected_gene': 'LOC105370265', 'score': 0.25}]
chr13 GH13I076829 76829001 76830642 0.58 [{'connected_gene': 'KCTD12', 'score': 11.22}, {'connected_gene': 'LOC105370265', 'score': 0.34}]
chr13 GH13I076792 76792461 76793916 0.51 [{'connected_gene': 'KCTD12', 'score': 15.81}, {'connected_gene': 'LOC105370265', 'score': 0.39}, {'connected_gene': 'GC13P076773', 'score': 0.37}]
chr13 GH13I076570 76570079 76571306 0.2 [{'connected_gene': 'KCTD12', 'score': 5.11}, {'connected_gene': 'GC13P076575', 'score': 0.77}, {'connected_gene': 'LOC105370264', 'score': 0.37}]
chr13 GH13I076944 76944201 76945000 1.05 [{'connected_gene': 'LOC105370269', 'score': 550.77}, {'connected_gene': 'KCTD12', 'score': 2.51}, {'connected_gene': 'ACOD1', 'score': 0.77}]
chr13 GH13I076942 76942471 76942588 0.22 [{'connected_gene': 'LOC105370269', 'score': 550.77}, {'connected_gene': 'KCTD12', 'score': 4.38}, {'connected_gene': 'BTF3P11', 'score': 0.39}]
chr13 GH13I076663 76663801 76664273 0.2 [{'connected_gene': 'LOC105370266', 'score': 550.77}, {'connected_gene': 'KCTD12', 'score': 10.99}, {'connected_gene': 'GC13P076575', 'score': 0.17}]
chr13 GH13I076825 76825026 76826379 0.31 [{'connected_gene': 'LOC105370265', 'score': 0.37}, {'connected_gene': 'KCTD12', 'score': 0.21}]
chr13 GH13I076808 76808650 76809615 0.2 [{'connected_gene': 'LOC105370265', 'score': 0.77}, {'connected_gene': 'KCTD12', 'score': 0.18}]

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