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
ENST00000543747 [[68042117, 68042194], [68050885, 68051376]] [[68050906, 68051376]]
ENST00000344096 [[68042500, 68042962], [68043576, 68043725], [68050885, 68059186]] [[68042913, 68042962], [68043576, 68043725], [68050885, 68052493]]
ENST00000393555 [[68042557, 68042962], [68050885, 68052689]] [[68050906, 68052493]]
ENST00000537632 [[68042900, 68042962], [68043576, 68043725], [68046280, 68046480]] None
ENST00000319833 [[68043461, 68043725], [68050885, 68051187]] [[68050906, 68051187]]
ENST00000542503 [[68045248, 68045438], [68050885, 68051255]] [[68045306, 68045438], [68050885, 68051255]]
NM_003583 [[68042511, 68042962], [68050885, 68056444]] [[68050906, 68052493]]
NM_006482 [[68042511, 68042962], [68043576, 68043725], [68050885, 68056444]] [[68042913, 68042962], [68043576, 68043725], [68050885, 68052493]]
Promoter
Chrom Start End Description
chr12 68042495 68042508 CAGE_peak_2_at_DYRK2_5end
chr12 68042517 68042583 CAGE_peak_1_at_DYRK2_5end
chr12 68043654 68043674 CAGE_peak_7_at_DYRK2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I067682 67682061 67682189 0.4 [{'connected_gene': 'DYRK2', 'score': 12.37}, {'connected_gene': 'LOC105369816', 'score': 0.77}, {'connected_gene': 'LINC02421', 'score': 0.25}]
chr12 GH12I067631 67631695 67632750 0.31 [{'connected_gene': 'DYRK2', 'score': 0.37}, {'connected_gene': 'LINC02442', 'score': 0.26}]
chr12 GH12I067633 67633801 67634000 0.38 [{'connected_gene': 'DYRK2', 'score': 0.39}, {'connected_gene': 'LINC02442', 'score': 0.26}]
chr12 GH12I067634 67634401 67634600 0.31 [{'connected_gene': 'DYRK2', 'score': 0.39}, {'connected_gene': 'LINC02442', 'score': 0.26}]
chr12 GH12I067680 67680610 67682035 0.83 [{'connected_gene': 'DYRK2', 'score': 12.37}, {'connected_gene': 'LINC01479', 'score': 7.17}, {'connected_gene': 'LOC105369816', 'score': 0.77}, {'connected_gene': 'LINC02421', 'score': 0.25}]
chr12 GH12I067646 67646997 67652110 2.17 [{'connected_gene': 'DYRK2', 'score': 550.77}, {'connected_gene': 'LINC01479', 'score': 5.81}, {'connected_gene': 'GC12P067661', 'score': 0.39}]
chr12 GH12I067655 67655941 67656090 0.4 [{'connected_gene': 'DYRK2', 'score': 0.44}, {'connected_gene': 'GC12P067661', 'score': 0.44}]
chr12 GH12I067653 67653005 67655262 0.31 [{'connected_gene': 'DYRK2', 'score': 0.44}, {'connected_gene': 'GC12P067661', 'score': 0.44}]
chr12 GH12I068556 68556749 68558747 0.86 [{'connected_gene': 'NUP107', 'score': 22.44}, {'connected_gene': 'RPL10P12', 'score': 21.61}, {'connected_gene': 'RAP1B', 'score': 12.97}, {'connected_gene': 'KRT8P39', 'score': 11.35}, {'connected_gene': 'LINC02384', 'score': 10.9}, {'connected_gene': 'SNORA70G', 'score': 10.88}, {'connected_gene': 'MDM1', 'score': 10.83}, {'connected_gene': 'DYRK2', 'score': 10.72}, {'connected_gene': 'CPSF6', 'score': 9.82}, {'connected_gene': 'RPSAP12', 'score': 0.77}, {'connected_gene': 'ENSG00000274459', 'score': 0.37}]
chr12 GH12I067592 67592158 67595180 1.02 [{'connected_gene': 'CAND1', 'score': 21.44}, {'connected_gene': 'ENSG00000235872', 'score': 10.53}, {'connected_gene': 'LINC02442', 'score': 0.77}, {'connected_gene': 'DYRK2', 'score': 0.23}]
chr12 GH12I067678 67678117 67679299 0.86 [{'connected_gene': 'LOC105369816', 'score': 550.77}, {'connected_gene': 'DYRK2', 'score': 12.37}, {'connected_gene': 'LINC01479', 'score': 6.13}, {'connected_gene': 'LINC02421', 'score': 0.23}]
chr12 GH12I067589 67589846 67590964 0.51 [{'connected_gene': 'LINC02442', 'score': 550.77}, {'connected_gene': 'ENSG00000235872', 'score': 11.24}, {'connected_gene': 'DYRK2', 'score': 0.22}]
chr12 GH12I067988 67988430 67993227 1.4 [{'connected_gene': 'IFNG-AS1', 'score': 567.46}, {'connected_gene': 'LINC01479', 'score': 10.47}, {'connected_gene': 'IFNG', 'score': 4.2}, {'connected_gene': 'IL22', 'score': 2.27}, {'connected_gene': 'DYRK2', 'score': 2.04}, {'connected_gene': 'GC12P067986', 'score': 0.77}, {'connected_gene': 'RPL39P28', 'score': 0.39}]
chr12 GH12I067628 67628483 67631510 1.1 [{'connected_gene': 'ENSG00000235872', 'score': 10.78}, {'connected_gene': 'DYRK2', 'score': 4.57}, {'connected_gene': 'LINC02442', 'score': 0.26}]
chr12 GH12I067644 67644870 67646174 0.38 [{'connected_gene': 'ENSG00000235872', 'score': 11.58}, {'connected_gene': 'DYRK2', 'score': 0.77}, {'connected_gene': 'LINC02442', 'score': 0.22}]
chr12 GH12I067661 67661581 67661730 0.84 [{'connected_gene': 'GC12P067661', 'score': 550.77}, {'connected_gene': 'ENSG00000235872', 'score': 0.44}, {'connected_gene': 'DYRK2', 'score': 0.39}]
chr12 GH12I067656 67656301 67656450 0.4 [{'connected_gene': 'GC12P067661', 'score': 0.77}, {'connected_gene': 'DYRK2', 'score': 0.44}]
chr12 GH12I067663 67661795 67662136 0.64 [{'connected_gene': 'GC12P067661', 'score': 550.77}, {'connected_gene': 'ENSG00000235872', 'score': 0.44}, {'connected_gene': 'DYRK2', 'score': 0.39}]
chr12 GH12I067662 67662216 67663802 0.66 [{'connected_gene': 'GC12P067661', 'score': 550.77}, {'connected_gene': 'LINC01479', 'score': 6.53}, {'connected_gene': 'ENSG00000235872', 'score': 0.44}, {'connected_gene': 'DYRK2', 'score': 0.39}]