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
ENST00000449193 [[21802406, 21808587], [21810317, 21810409], [21812611, 21812800], [21814475, 21814611]] [[21804024, 21806751]]
ENST00000444772 [[21803944, 21805845], [21806082, 21806848]] [[21804024, 21805845], [21806082, 21806751]]
ENST00000487107 [[21808436, 21808587], [21810317, 21810409], [21812611, 21812824]] None
NM_207371 [[21802406, 21808587], [21810317, 21810409], [21812611, 21812800], [21814475, 21814611]] [[21804024, 21806751]]
Promoter
Chrom Start End Description
chr10 21805816 21805830 CAGE_peak_2_at_C10orf140_5end
chr10 21806285 21806307 CAGE_peak_3_at_C10orf140_5end
chr10 21806759 21806763 CAGE_peak_7_at_C10orf140_5end
chr10 21807175 21807210 CAGE_peak_1_at_C10orf140_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I021723 21723430 21725772 1.23 [{'connected_gene': 'MLLT10', 'score': 46.65}, {'connected_gene': 'BMI1', 'score': 28.29}, {'connected_gene': 'MIR1915', 'score': 12.37}, {'connected_gene': 'CASC10', 'score': 12.37}, {'connected_gene': 'RNU6-1141P', 'score': 10.77}, {'connected_gene': 'SKIDA1', 'score': 10.17}, {'connected_gene': 'ENSG00000261671', 'score': 9.71}, {'connected_gene': 'GC10P021711', 'score': 0.39}, {'connected_gene': 'RN7SKP219', 'score': 0.21}]
chr10 GH10I021522 21522677 21530071 2.54 [{'connected_gene': 'MLLT10', 'score': 565.97}, {'connected_gene': 'SKIDA1', 'score': 560.85}, {'connected_gene': 'BMI1', 'score': 21.36}, {'connected_gene': 'MIR1915', 'score': 11.42}, {'connected_gene': 'CASC10', 'score': 11.42}]
chr10 GH10I021530 21530905 21536250 2.29 [{'connected_gene': 'MLLT10', 'score': 583.8}, {'connected_gene': 'SKIDA1', 'score': 0.44}, {'connected_gene': 'RNU6-306P', 'score': 0.29}, {'connected_gene': 'GC10M021565', 'score': 0.29}]
chr10 GH10I021514 21514732 21514881 0.63 [{'connected_gene': 'MLLT10', 'score': 0.44}, {'connected_gene': 'SKIDA1', 'score': 0.39}, {'connected_gene': 'GC10P021497', 'score': 0.37}]
chr10 GH10I021507 21507272 21513084 1.48 [{'connected_gene': 'MLLT10', 'score': 20.62}, {'connected_gene': 'C10orf113', 'score': 1.42}, {'connected_gene': 'GC10P021497', 'score': 0.39}, {'connected_gene': 'SKIDA1', 'score': 0.37}]
chr10 GH10I022001 22001920 22004680 2.05 [{'connected_gene': 'DNAJC1', 'score': 550.77}, {'connected_gene': 'BMI1', 'score': 21.39}, {'connected_gene': 'MLLT10', 'score': 12.01}, {'connected_gene': 'SKIDA1', 'score': 10.13}, {'connected_gene': 'GC10M021938', 'score': 0.29}, {'connected_gene': 'GC10P021805', 'score': 0.08}]
chr10 GH10I021515 21515071 21521404 2.34 [{'connected_gene': 'CASC10', 'score': 14.72}, {'connected_gene': 'MIR1915', 'score': 12.09}, {'connected_gene': 'MLLT10', 'score': 5.45}, {'connected_gene': 'SKIDA1', 'score': 1.85}, {'connected_gene': 'GC10P021497', 'score': 0.34}]
chr10 GH10I021500 21499598 21501513 0.77 [{'connected_gene': 'SKIDA1', 'score': 11.68}, {'connected_gene': 'MLLT10', 'score': 11.58}, {'connected_gene': 'GC10P021497', 'score': 0.77}]
chr10 GH10I021513 21513601 21513800 0.51 [{'connected_gene': 'SKIDA1', 'score': 0.39}, {'connected_gene': 'MLLT10', 'score': 0.39}, {'connected_gene': 'GC10P021497', 'score': 0.37}]
chr10 GH10I021505 21505336 21506524 1.14 [{'connected_gene': 'SKIDA1', 'score': 11.71}, {'connected_gene': 'GC10P021497', 'score': 0.44}, {'connected_gene': 'MLLT10', 'score': 0.37}]
chr10 GH10I021581 21581251 21582645 0.71 [{'connected_gene': 'LOC100422524', 'score': 550.77}, {'connected_gene': 'RNU6-1141P', 'score': 11.99}, {'connected_gene': 'MLLT10', 'score': 11.64}, {'connected_gene': 'CASC10', 'score': 11.08}, {'connected_gene': 'MIR1915', 'score': 11.07}, {'connected_gene': 'SKIDA1', 'score': 11.06}, {'connected_gene': 'GC10M021624', 'score': 0.26}]
chr10 GH10I021395 21395036 21395068 0.56 [{'connected_gene': 'LOC100420467', 'score': 550.77}, {'connected_gene': 'RNMTL1P1', 'score': 550.77}, {'connected_gene': 'SKIDA1', 'score': 1.34}, {'connected_gene': 'LOC105376445', 'score': 0.37}]
chr10 GH10I022228 22228189 22231199 1.56 [{'connected_gene': 'PIR53259', 'score': 550.77}, {'connected_gene': 'TRN-GTT2-3', 'score': 550.77}, {'connected_gene': 'MLLT10', 'score': 52.06}, {'connected_gene': 'BMI1', 'score': 44.34}, {'connected_gene': 'COMMD3', 'score': 11.74}, {'connected_gene': 'SKIDA1', 'score': 10.11}, {'connected_gene': 'DNAJC1', 'score': 9.97}, {'connected_gene': 'EBLN1', 'score': 2.65}, {'connected_gene': 'LOC105376446', 'score': 0.37}]