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
ENST00000263228 [[33817564, 33817932], [33886878, 33886965], [33900171, 33900269], [33911961, 33912096], [33917015, 33920402]] [[33817755, 33817932], [33886878, 33886965], [33900171, 33900269], [33911961, 33912096], [33917015, 33917235]]
NM_017811 [[33817181, 33817932], [33886878, 33886965], [33900171, 33900269], [33911961, 33912096], [33917015, 33920401]] [[33817755, 33817932], [33886878, 33886965], [33900171, 33900269], [33911961, 33912096], [33917015, 33917235]]
Promoter
Chrom Start End Description
chr9 33816683 33816698 CAGE_peak_13_at_UBE2R2_5end
chr9 33816814 33816856 CAGE_peak_9_at_UBE2R2_5end
chr9 33817005 33817027 CAGE_peak_12_at_UBE2R2_5end
chr9 33817090 33817101 CAGE_peak_6_at_UBE2R2_5end
chr9 33817124 33817197 CAGE_peak_1_at_UBE2R2_5end
chr9 33817267 33817292 CAGE_peak_4_at_UBE2R2_5end
chr9 33817301 33817340 CAGE_peak_3_at_UBE2R2_5end
chr9 33817371 33817382 CAGE_peak_10_at_UBE2R2_5end
chr9 33817461 33817524 CAGE_peak_2_at_UBE2R2_5end
chr9 33817736 33817749 CAGE_peak_5_at_UBE2R2_5end
chr9 33817830 33817839 CAGE_peak_8_at_UBE2R2_5end
chr9 33817852 33817872 CAGE_peak_7_at_UBE2R2_5end
chr9 33817886 33817889 CAGE_peak_11_at_UBE2R2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I033787 33787485 33788132 0.31 [{'connected_gene': 'TRBV29OR9-2', 'score': 550.77}, {'connected_gene': 'GC09P034201', 'score': 550.77}, {'connected_gene': 'SNORD121B', 'score': 10.6}, {'connected_gene': 'UBAP2', 'score': 10.56}, {'connected_gene': 'NUDT2', 'score': 6.65}, {'connected_gene': 'UBE2R2', 'score': 0.31}, {'connected_gene': 'UBE2R2-AS1', 'score': 0.29}, {'connected_gene': 'PRSS3', 'score': 0.28}]
chr9 GH09I033786 33786320 33786974 0.46 [{'connected_gene': 'TRBV29OR9-2', 'score': 550.77}, {'connected_gene': 'GC09P034201', 'score': 550.77}, {'connected_gene': 'SNORD121B', 'score': 10.6}, {'connected_gene': 'UBAP2', 'score': 10.56}, {'connected_gene': 'UBE2R2-AS1', 'score': 0.29}, {'connected_gene': 'UBE2R2', 'score': 0.29}, {'connected_gene': 'PRSS3', 'score': 0.28}]
chr9 GH09I033749 33749843 33753998 1.64 [{'connected_gene': 'PRSS3', 'score': 557.2}, {'connected_gene': 'ENSG00000260947', 'score': 19.01}, {'connected_gene': 'TRBV26OR9-2', 'score': 11.97}, {'connected_gene': 'RNU4ATAC11P', 'score': 11.43}, {'connected_gene': 'UBE2R2', 'score': 10.98}, {'connected_gene': 'UBAP2', 'score': 10.55}, {'connected_gene': 'LINC01251', 'score': 8.68}, {'connected_gene': 'ENSG00000227301', 'score': 5.04}, {'connected_gene': 'NOL6', 'score': 4.59}, {'connected_gene': 'TRBV29OR9-2', 'score': 0.29}]
chr9 GH09I033795 33795512 33795571 1.09 [{'connected_gene': 'PRSS3', 'score': 550.25}, {'connected_gene': 'GC09P034201', 'score': 0.44}, {'connected_gene': 'UBE2R2-AS1', 'score': 0.34}, {'connected_gene': 'UBE2R2', 'score': 0.34}]
chr9 GH09I034071 34071586 34074601 1.14 [{'connected_gene': 'UBAP2', 'score': 11.35}, {'connected_gene': 'RNU4ATAC11P', 'score': 11.15}, {'connected_gene': 'DCAF12', 'score': 11.11}, {'connected_gene': 'IMPDH1P1', 'score': 11.09}, {'connected_gene': 'SNORD121A', 'score': 11.03}, {'connected_gene': 'ENSG00000260947', 'score': 5.53}, {'connected_gene': 'UBE2R2', 'score': 4.67}, {'connected_gene': 'ENSG00000228352', 'score': 0.39}, {'connected_gene': 'RN7SKP114', 'score': 0.34}]
chr9 GH09I034046 34046773 34050698 2.08 [{'connected_gene': 'UBAP2', 'score': 562.24}, {'connected_gene': 'RN7SKP114', 'score': 550.77}, {'connected_gene': 'SMU1', 'score': 43.04}, {'connected_gene': 'ENSG00000228352', 'score': 38.55}, {'connected_gene': 'NFX1', 'score': 19.19}, {'connected_gene': 'NOL6', 'score': 11.82}, {'connected_gene': 'B4GALT1', 'score': 10.78}, {'connected_gene': 'UBE2R2', 'score': 8.43}, {'connected_gene': 'PRSS3', 'score': 7.6}, {'connected_gene': 'ENSG00000260947', 'score': 7.0}, {'connected_gene': 'KIF24', 'score': 6.13}, {'connected_gene': 'C9orf24', 'score': 4.66}, {'connected_gene': 'DCAF12', 'score': 4.63}, {'connected_gene': 'OSTCP8', 'score': 4.26}, {'connected_gene': 'PIR49648', 'score': 0.39}]
chr9 GH09I033778 33778638 33780643 1.11 [{'connected_gene': 'UBE2R2', 'score': 18.01}, {'connected_gene': 'SMU1', 'score': 14.76}, {'connected_gene': 'TCEA1P4', 'score': 13.94}, {'connected_gene': 'NFX1', 'score': 12.65}, {'connected_gene': 'ENSG00000260947', 'score': 10.02}, {'connected_gene': 'TRBV29OR9-2', 'score': 0.44}, {'connected_gene': 'PRSS3', 'score': 0.31}]
chr9 GH09I033813 33813238 33820185 2.55 [{'connected_gene': 'UBE2R2', 'score': 565.8}, {'connected_gene': 'UBAP1', 'score': 12.35}, {'connected_gene': 'PRSS3', 'score': 7.43}, {'connected_gene': 'ENSG00000260947', 'score': 4.44}, {'connected_gene': 'ENSG00000230074', 'score': 4.22}, {'connected_gene': 'UBAP2', 'score': 4.17}, {'connected_gene': 'DCAF12', 'score': 3.96}, {'connected_gene': 'UBE2R2-AS1', 'score': 0.77}, {'connected_gene': 'GC09P034201', 'score': 0.29}]
chr9 GH09I033931 33931172 33931495 0.22 [{'connected_gene': 'UBE2R2', 'score': 11.42}, {'connected_gene': 'UBAP1', 'score': 1.91}, {'connected_gene': 'GC09M033934', 'score': 0.77}, {'connected_gene': 'SNORD121B', 'score': 0.77}, {'connected_gene': 'RNU4ATAC11P', 'score': 0.21}, {'connected_gene': 'UBAP2', 'score': 0.13}]
chr9 GH09I033776 33776910 33777739 0.54 [{'connected_gene': 'UBE2R2', 'score': 11.95}, {'connected_gene': 'ENSG00000260947', 'score': 10.94}, {'connected_gene': 'NUDT2', 'score': 9.29}, {'connected_gene': 'TRBV29OR9-2', 'score': 0.44}, {'connected_gene': 'PRSS3', 'score': 0.31}]
chr9 GH09I033842 33842402 33844399 0.63 [{'connected_gene': 'UBE2R2', 'score': 19.85}, {'connected_gene': 'RNU4ATAC11P', 'score': 13.04}, {'connected_gene': 'SNORD121B', 'score': 10.94}, {'connected_gene': 'UBAP2', 'score': 10.86}, {'connected_gene': 'SNORD121A', 'score': 10.1}, {'connected_gene': 'LINC01251', 'score': 5.58}, {'connected_gene': 'DCAF12', 'score': 3.97}, {'connected_gene': 'ENSG00000200834', 'score': 0.39}, {'connected_gene': 'GC09P034128', 'score': 0.31}]
chr9 GH09I033875 33875209 33876192 0.31 [{'connected_gene': 'UBE2R2', 'score': 7.48}, {'connected_gene': 'RNU4ATAC11P', 'score': 0.44}, {'connected_gene': 'GC09M033934', 'score': 0.22}, {'connected_gene': 'SNORD121B', 'score': 0.22}]
chr9 GH09I033879 33879401 33879800 0.58 [{'connected_gene': 'UBE2R2', 'score': 7.16}, {'connected_gene': 'RNU4ATAC11P', 'score': 0.39}, {'connected_gene': 'GC09M033934', 'score': 0.23}, {'connected_gene': 'SNORD121B', 'score': 0.23}]
chr9 GH09I033847 33847201 33847400 0.74 [{'connected_gene': 'UBE2R2', 'score': 13.27}, {'connected_gene': 'RNU4ATAC11P', 'score': 13.07}, {'connected_gene': 'SNORD121A', 'score': 9.97}, {'connected_gene': 'ENSG00000200834', 'score': 0.37}, {'connected_gene': 'GC09P034128', 'score': 0.34}]
chr9 GH09I033839 33839568 33840995 0.2 [{'connected_gene': 'UBE2R2', 'score': 19.38}, {'connected_gene': 'SNORD121B', 'score': 10.63}, {'connected_gene': 'UBAP2', 'score': 10.55}, {'connected_gene': 'SNORD121A', 'score': 10.1}, {'connected_gene': 'ENSG00000260947', 'score': 8.06}, {'connected_gene': 'C9orf24', 'score': 4.27}, {'connected_gene': 'ENSG00000200834', 'score': 0.44}, {'connected_gene': 'GC09P034128', 'score': 0.31}]
chr9 GH09I033852 33852001 33852601 1 [{'connected_gene': 'UBE2R2', 'score': 12.87}, {'connected_gene': 'SNORD121B', 'score': 10.83}, {'connected_gene': 'UBAP2', 'score': 10.73}, {'connected_gene': 'SNORD121A', 'score': 9.91}, {'connected_gene': 'DCAF12', 'score': 3.97}, {'connected_gene': 'GC09P034128', 'score': 0.37}, {'connected_gene': 'ENSG00000200834', 'score': 0.34}]
chr9 GH09I033885 33884001 33884200 0.2 [{'connected_gene': 'UBE2R2', 'score': 11.42}, {'connected_gene': 'SNORD121B', 'score': 11.24}, {'connected_gene': 'UBAP2', 'score': 11.1}, {'connected_gene': 'SNORD121A', 'score': 10.85}, {'connected_gene': 'ENSG00000228352', 'score': 10.07}, {'connected_gene': 'RNU2-50P', 'score': 9.65}, {'connected_gene': 'RNU4ATAC11P', 'score': 0.37}, {'connected_gene': 'GC09M033934', 'score': 0.23}]
chr9 GH09I033884 33884898 33885747 0.56 [{'connected_gene': 'UBE2R2', 'score': 11.42}, {'connected_gene': 'SNORD121B', 'score': 11.25}, {'connected_gene': 'UBAP2', 'score': 11.1}, {'connected_gene': 'SNORD121A', 'score': 10.85}, {'connected_gene': 'ENSG00000228352', 'score': 10.07}, {'connected_gene': 'RNU2-50P', 'score': 9.65}, {'connected_gene': 'RNU4ATAC11P', 'score': 0.37}, {'connected_gene': 'GC09M033934', 'score': 0.25}]
chr9 GH09I033880 33880801 33881000 0.77 [{'connected_gene': 'UBE2R2', 'score': 11.43}, {'connected_gene': 'SNORD121B', 'score': 11.24}, {'connected_gene': 'UBAP2', 'score': 11.11}, {'connected_gene': 'SNORD121A', 'score': 10.84}, {'connected_gene': 'ENSG00000228352', 'score': 10.07}, {'connected_gene': 'RNU2-50P', 'score': 9.65}, {'connected_gene': 'RNU4ATAC11P', 'score': 0.39}, {'connected_gene': 'GC09M033934', 'score': 0.23}]
chr9 GH09I033792 33792452 33792757 0.2 [{'connected_gene': 'UBE2R2', 'score': 11.56}, {'connected_gene': 'SNORD121A', 'score': 9.5}, {'connected_gene': 'GC09P034201', 'score': 0.44}, {'connected_gene': 'UBE2R2-AS1', 'score': 0.31}, {'connected_gene': 'PRSS3', 'score': 0.26}]
chr9 GH09I033791 33791115 33792130 0.49 [{'connected_gene': 'UBE2R2', 'score': 17.56}, {'connected_gene': 'SNORD121A', 'score': 9.33}, {'connected_gene': 'ENSG00000260947', 'score': 8.1}, {'connected_gene': 'GC09P034201', 'score': 0.44}, {'connected_gene': 'UBE2R2-AS1', 'score': 0.31}, {'connected_gene': 'PRSS3', 'score': 0.26}]
chr9 GH09I033793 33793793 33794187 0.2 [{'connected_gene': 'UBE2R2', 'score': 11.56}, {'connected_gene': 'SNORD121A', 'score': 9.51}, {'connected_gene': 'ENSG00000260947', 'score': 7.45}, {'connected_gene': 'GC09P034201', 'score': 0.44}, {'connected_gene': 'UBE2R2-AS1', 'score': 0.34}, {'connected_gene': 'PRSS3', 'score': 0.26}]
chr9 GH09I033850 33850001 33851200 0.76 [{'connected_gene': 'UBE2R2', 'score': 20.2}, {'connected_gene': 'SNORD121A', 'score': 9.98}, {'connected_gene': 'GC09P034128', 'score': 0.37}, {'connected_gene': 'ENSG00000200834', 'score': 0.37}]
chr9 GH09I033851 33851363 33851492 0.4 [{'connected_gene': 'UBE2R2', 'score': 13.27}, {'connected_gene': 'SNORD121A', 'score': 9.98}, {'connected_gene': 'GC09P034128', 'score': 0.37}, {'connected_gene': 'ENSG00000200834', 'score': 0.34}]
chr9 GH09I033858 33858401 33858800 0.69 [{'connected_gene': 'UBE2R2', 'score': 11.46}, {'connected_gene': 'SNORD121A', 'score': 9.91}, {'connected_gene': 'ENSG00000228352', 'score': 9.67}, {'connected_gene': 'GC09P034128', 'score': 0.44}, {'connected_gene': 'ENSG00000200834', 'score': 0.31}]
chr9 GH09I034177 34177833 34181013 2.36 [{'connected_gene': 'UBAP1', 'score': 577.73}, {'connected_gene': 'NUDT2', 'score': 9.12}, {'connected_gene': 'UBE2R2', 'score': 2.91}, {'connected_gene': 'LOC114224', 'score': 0.44}]
chr9 GH09I034027 34027264 34029462 0.49 [{'connected_gene': 'NFX1', 'score': 17.58}, {'connected_gene': 'ENSG00000228352', 'score': 13.26}, {'connected_gene': 'NOL6', 'score': 12.21}, {'connected_gene': 'SMU1', 'score': 12.04}, {'connected_gene': 'NUDT2', 'score': 8.07}, {'connected_gene': 'PRSS3', 'score': 7.6}, {'connected_gene': 'ENSG00000260947', 'score': 7.32}, {'connected_gene': 'UBE2R2', 'score': 7.03}, {'connected_gene': 'DCAF12', 'score': 5.7}, {'connected_gene': 'RNU7-36P', 'score': 0.39}, {'connected_gene': 'PIR49648', 'score': 0.39}, {'connected_gene': 'UBAP2', 'score': 0.34}]
chr9 GH09I033799 33799479 33800789 0.2 [{'connected_gene': 'NUDT2', 'score': 5.41}, {'connected_gene': 'GALT', 'score': 4.21}, {'connected_gene': 'GC09P034201', 'score': 0.39}, {'connected_gene': 'UBE2R2-AS1', 'score': 0.37}, {'connected_gene': 'UBE2R2', 'score': 0.37}]
chr9 GH09I033867 33867589 33869412 1.19 [{'connected_gene': 'RNU4ATAC11P', 'score': 550.77}, {'connected_gene': 'GC09P034128', 'score': 550.77}, {'connected_gene': 'ASS1P12', 'score': 73.02}, {'connected_gene': 'NOL6', 'score': 69.71}, {'connected_gene': 'NFX1', 'score': 69.59}, {'connected_gene': 'ENSG00000228352', 'score': 58.26}, {'connected_gene': 'SMU1', 'score': 54.94}, {'connected_gene': 'TCEA1P4', 'score': 53.83}, {'connected_gene': 'UBAP2', 'score': 22.35}, {'connected_gene': 'ENSG00000230074', 'score': 11.12}, {'connected_gene': 'FAM205A', 'score': 10.86}, {'connected_gene': 'APTX', 'score': 10.53}, {'connected_gene': 'LAGE3P1', 'score': 10.35}, {'connected_gene': 'B4GALT1', 'score': 10.03}, {'connected_gene': 'UBE2R2', 'score': 7.17}, {'connected_gene': 'DCAF12', 'score': 3.98}, {'connected_gene': 'ENSG00000200834', 'score': 0.28}]
chr9 GH09I033835 33835165 33837399 1.07 [{'connected_gene': 'SNORD121B', 'score': 10.91}, {'connected_gene': 'UBAP2', 'score': 10.84}, {'connected_gene': 'SNORD121A', 'score': 10.09}, {'connected_gene': 'UBE2R2', 'score': 7.48}, {'connected_gene': 'NUDT2', 'score': 6.88}, {'connected_gene': 'KIF24', 'score': 6.08}, {'connected_gene': 'C9orf24', 'score': 4.27}, {'connected_gene': 'ENSG00000200834', 'score': 0.44}, {'connected_gene': 'GC09P034128', 'score': 0.29}]
chr9 GH09I033798 33798308 33798959 0.43 [{'connected_gene': 'SNORD121B', 'score': 10.04}, {'connected_gene': 'UBAP2', 'score': 9.99}, {'connected_gene': 'SNORD121A', 'score': 9.32}, {'connected_gene': 'IMPDH1P1', 'score': 9.17}, {'connected_gene': 'DCAF12', 'score': 9.17}, {'connected_gene': 'ENSG00000260947', 'score': 7.91}, {'connected_gene': 'GC09P034201', 'score': 0.39}, {'connected_gene': 'UBE2R2', 'score': 0.37}, {'connected_gene': 'UBE2R2-AS1', 'score': 0.34}, {'connected_gene': 'PRSS3', 'score': 0.25}]
chr9 GH09I033924 33924763 33926904 0.57 [{'connected_gene': 'SNORD121A', 'score': 11.6}, {'connected_gene': 'UBE2R2', 'score': 7.15}, {'connected_gene': 'ENSG00000260947', 'score': 5.66}, {'connected_gene': 'DCAF12', 'score': 3.99}, {'connected_gene': 'SNORD121B', 'score': 0.44}, {'connected_gene': 'GC09M033934', 'score': 0.44}, {'connected_gene': 'RNU4ATAC11P', 'score': 0.22}, {'connected_gene': 'UBAP2', 'score': 0.13}]
chr9 GH09I033806 33806783 33807687 0.56 [{'connected_gene': 'SNORD121A', 'score': 10.56}, {'connected_gene': 'UBE2R2', 'score': 0.44}, {'connected_gene': 'UBE2R2-AS1', 'score': 0.39}, {'connected_gene': 'GC09P034201', 'score': 0.34}]
chr9 GH09I033805 33805996 33806367 0.2 [{'connected_gene': 'SNORD121A', 'score': 9.97}, {'connected_gene': 'UBE2R2-AS1', 'score': 0.39}, {'connected_gene': 'UBE2R2', 'score': 0.39}, {'connected_gene': 'GC09P034201', 'score': 0.37}]
chr9 GH09I033941 33941979 33943984 0.63 [{'connected_gene': 'ENSG00000228352', 'score': 10.13}, {'connected_gene': 'UBE2R2', 'score': 7.72}, {'connected_gene': 'KIF24', 'score': 6.13}, {'connected_gene': 'C9orf24', 'score': 4.48}, {'connected_gene': 'SNORD121B', 'score': 0.44}, {'connected_gene': 'SNORD121A', 'score': 0.44}, {'connected_gene': 'GC09M033934', 'score': 0.44}, {'connected_gene': 'GC09M033952', 'score': 0.44}, {'connected_gene': 'UBAP2', 'score': 0.14}]
chr9 GH09I033940 33940012 33941114 0.89 [{'connected_gene': 'ENSG00000228352', 'score': 10.13}, {'connected_gene': 'NUDT2', 'score': 7.8}, {'connected_gene': 'UBE2R2', 'score': 7.24}, {'connected_gene': 'KIF24', 'score': 4.61}, {'connected_gene': 'SNORD121B', 'score': 0.44}, {'connected_gene': 'GC09M033934', 'score': 0.44}, {'connected_gene': 'SNORD121A', 'score': 0.39}, {'connected_gene': 'GC09M033952', 'score': 0.39}, {'connected_gene': 'UBAP2', 'score': 0.14}]
chr9 GH09I033801 33801276 33801753 0.2 [{'connected_gene': 'ENSG00000260947', 'score': 7.79}, {'connected_gene': 'DCAF12', 'score': 3.96}, {'connected_gene': 'GC09P034201', 'score': 0.39}, {'connected_gene': 'UBE2R2-AS1', 'score': 0.37}, {'connected_gene': 'UBE2R2', 'score': 0.37}]
chr9 GH09I033830 33830001 33830200 0.4 [{'connected_gene': 'GC09P034126', 'score': 550.77}, {'connected_gene': 'ENSG00000200834', 'score': 550.77}, {'connected_gene': 'RNU4ATAC11P', 'score': 12.27}, {'connected_gene': 'ENSG00000228352', 'score': 9.98}, {'connected_gene': 'SNORD121A', 'score': 9.53}, {'connected_gene': 'UBE2R2-AS1', 'score': 0.39}, {'connected_gene': 'UBE2R2', 'score': 0.39}]
chr9 GH09I033800 33800804 33801134 0.2 [{'connected_gene': 'GC09P034201', 'score': 0.39}, {'connected_gene': 'UBE2R2-AS1', 'score': 0.37}, {'connected_gene': 'UBE2R2', 'score': 0.37}]
chr9 GH09I033953 33953870 33954187 0.25 [{'connected_gene': 'GC09M033952', 'score': 550.77}, {'connected_gene': 'SNORD121A', 'score': 550.77}, {'connected_gene': 'UBE2R2', 'score': 14.86}, {'connected_gene': 'UBAP1', 'score': 1.37}, {'connected_gene': 'OSTCP8', 'score': 0.39}, {'connected_gene': 'UBAP2', 'score': 0.16}]

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