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
ENST00000309558 [[33191536, 33195525], [33216377, 33216566], [33249299, 33249418], [33255419, 33255597], [33260177, 33260707]] [[33194233, 33195525], [33216377, 33216566], [33249299, 33249418], [33255419, 33255597], [33260177, 33260289]]
ENST00000412539 [[33195201, 33195525], [33249299, 33249418], [33255419, 33255597], [33260177, 33260285]] [[33195201, 33195525], [33249299, 33249418], [33255419, 33255597], [33260177, 33260285]]
NM_015551 [[33191536, 33195525], [33216377, 33216566], [33249299, 33249418], [33255419, 33255597], [33260177, 33260707]] [[33194233, 33195525], [33216377, 33216566], [33249299, 33249418], [33255419, 33255597], [33260177, 33260289]]
Promoter
Chrom Start End Description
chr3 33260283 33260346 CAGE_peak_1_at_SUSD5_5end
chr3 33260352 33260365 CAGE_peak_3_at_SUSD5_5end
chr3 33260373 33260422 CAGE_peak_2_at_SUSD5_5end
chr3 33260478 33260490 CAGE_peak_8_at_SUSD5_5end
chr3 33260765 33260770 CAGE_peak_7_at_SUSD5_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I033298 33298679 33301548 0.72 [{'connected_gene': 'UBP1', 'score': 17.25}, {'connected_gene': 'SUSD5', 'score': 15.37}, {'connected_gene': 'FBXL2', 'score': 12.7}, {'connected_gene': 'RNU7-110P', 'score': 0.14}]
chr3 GH03I033340 33340574 33340858 0.25 [{'connected_gene': 'UBP1', 'score': 15.58}, {'connected_gene': 'SUSD5', 'score': 10.16}, {'connected_gene': 'CLASP2', 'score': 1.77}, {'connected_gene': 'FBXL2', 'score': 0.21}, {'connected_gene': 'RNU7-110P', 'score': 0.19}]
chr3 GH03I033417 33417086 33417471 0.63 [{'connected_gene': 'UBP1', 'score': 11.35}, {'connected_gene': 'SUSD5', 'score': 8.79}, {'connected_gene': 'RNU7-110P', 'score': 0.77}, {'connected_gene': 'GC03M033417', 'score': 0.44}]
chr3 GH03I033422 33422055 33422946 0.2 [{'connected_gene': 'UBP1', 'score': 18.99}, {'connected_gene': 'SUSD5', 'score': 8.79}, {'connected_gene': 'GC03M033417', 'score': 0.77}, {'connected_gene': 'RNU7-110P', 'score': 0.44}]
chr3 GH03I033400 33400103 33403016 0.49 [{'connected_gene': 'UBP1', 'score': 29.3}, {'connected_gene': 'FBXL2', 'score': 20.12}, {'connected_gene': 'SUSD5', 'score': 9.53}, {'connected_gene': 'ENSG00000271324', 'score': 4.66}, {'connected_gene': 'RNU7-110P', 'score': 0.39}]
chr3 GH03I033419 33419801 33420800 0.4 [{'connected_gene': 'UBP1', 'score': 26.02}, {'connected_gene': 'FBXL2', 'score': 20.53}, {'connected_gene': 'SUSD5', 'score': 8.79}, {'connected_gene': 'GC03M033417', 'score': 0.44}, {'connected_gene': 'RNU7-110P', 'score': 0.44}]
chr3 GH03I033385 33385019 33386992 0.78 [{'connected_gene': 'UBP1', 'score': 17.1}, {'connected_gene': 'FBXL2', 'score': 12.13}, {'connected_gene': 'CRTAP', 'score': 10.57}, {'connected_gene': 'SUSD5', 'score': 10.04}, {'connected_gene': 'CLASP2', 'score': 9.54}, {'connected_gene': 'TMPPE', 'score': 4.96}, {'connected_gene': 'RNU7-110P', 'score': 0.31}]
chr3 GH03I033377 33377611 33378486 0.43 [{'connected_gene': 'UBP1', 'score': 18.84}, {'connected_gene': 'CRTAP', 'score': 10.58}, {'connected_gene': 'SUSD5', 'score': 10.04}, {'connected_gene': 'CLASP2', 'score': 9.46}, {'connected_gene': 'RNU7-110P', 'score': 0.28}, {'connected_gene': 'FBXL2', 'score': 0.15}]
chr3 GH03I033131 33131309 33132250 0.85 [{'connected_gene': 'TMPPE', 'score': 11.32}, {'connected_gene': 'GLB1', 'score': 11.32}, {'connected_gene': 'SUSD5', 'score': 10.69}, {'connected_gene': 'CLASP2', 'score': 9.53}, {'connected_gene': 'PIR55934', 'score': 0.39}, {'connected_gene': 'CRTAP', 'score': 0.37}, {'connected_gene': 'GC03P033114', 'score': 0.37}]
chr3 GH03I033124 33124320 33124886 0.2 [{'connected_gene': 'TMPPE', 'score': 11.25}, {'connected_gene': 'GLB1', 'score': 11.25}, {'connected_gene': 'SUSD5', 'score': 10.68}, {'connected_gene': 'CRTAP', 'score': 5.87}, {'connected_gene': 'GC03P033114', 'score': 0.39}, {'connected_gene': 'PIR55934', 'score': 0.37}]
chr3 GH03I033130 33130040 33130437 0.2 [{'connected_gene': 'TMPPE', 'score': 11.24}, {'connected_gene': 'GLB1', 'score': 11.24}, {'connected_gene': 'SUSD5', 'score': 10.69}, {'connected_gene': 'CRTAP', 'score': 4.57}, {'connected_gene': 'PIR55934', 'score': 0.39}, {'connected_gene': 'GC03P033114', 'score': 0.37}]
chr3 GH03I033158 33158034 33160743 0.31 [{'connected_gene': 'SUSD5', 'score': 16.27}, {'connected_gene': 'CRTAP', 'score': 15.71}, {'connected_gene': 'TMPPE', 'score': 10.32}, {'connected_gene': 'GLB1', 'score': 10.32}, {'connected_gene': 'PIR50801', 'score': 0.44}, {'connected_gene': 'ENSG00000230119', 'score': 0.29}]
chr3 GH03I033167 33167226 33168294 0.38 [{'connected_gene': 'SUSD5', 'score': 11.03}, {'connected_gene': 'CRTAP', 'score': 4.61}, {'connected_gene': 'PIR50801', 'score': 0.39}, {'connected_gene': 'ENSG00000230119', 'score': 0.34}]
chr3 GH03I033169 33169398 33170090 0.2 [{'connected_gene': 'SUSD5', 'score': 11.04}, {'connected_gene': 'CRTAP', 'score': 4.65}, {'connected_gene': 'PIR50801', 'score': 0.37}, {'connected_gene': 'ENSG00000230119', 'score': 0.34}]
chr3 GH03I033166 33166286 33167024 0.2 [{'connected_gene': 'SUSD5', 'score': 10.77}, {'connected_gene': 'CRTAP', 'score': 10.56}, {'connected_gene': 'PIR50801', 'score': 0.39}, {'connected_gene': 'ENSG00000230119', 'score': 0.34}]
chr3 GH03I033156 33156869 33158015 0.31 [{'connected_gene': 'SUSD5', 'score': 15.25}, {'connected_gene': 'CRTAP', 'score': 5.25}, {'connected_gene': 'PIR50801', 'score': 0.77}, {'connected_gene': 'ENSG00000230119', 'score': 0.29}]
chr3 GH03I033171 33171550 33172776 0.52 [{'connected_gene': 'SUSD5', 'score': 11.53}, {'connected_gene': 'CRTAP', 'score': 4.64}, {'connected_gene': 'PIR50801', 'score': 0.37}, {'connected_gene': 'ENSG00000230119', 'score': 0.37}]
chr3 GH03I033170 33170116 33171031 0.31 [{'connected_gene': 'SUSD5', 'score': 11.04}, {'connected_gene': 'CRTAP', 'score': 4.63}, {'connected_gene': 'PIR50801', 'score': 0.37}, {'connected_gene': 'ENSG00000230119', 'score': 0.37}]
chr3 GH03I033165 33165744 33166263 0.2 [{'connected_gene': 'SUSD5', 'score': 10.77}, {'connected_gene': 'CRTAP', 'score': 10.56}, {'connected_gene': 'PIR50801', 'score': 0.39}, {'connected_gene': 'ENSG00000230119', 'score': 0.34}]
chr3 GH03I033173 33173031 33175439 0.38 [{'connected_gene': 'SUSD5', 'score': 16.35}, {'connected_gene': 'CRTAP', 'score': 4.62}, {'connected_gene': 'ENSG00000230119', 'score': 0.37}, {'connected_gene': 'PIR50801', 'score': 0.34}]
chr3 GH03I033168 33168367 33169350 0.2 [{'connected_gene': 'SUSD5', 'score': 11.03}, {'connected_gene': 'CRTAP', 'score': 5.09}, {'connected_gene': 'PIR50801', 'score': 0.37}, {'connected_gene': 'ENSG00000230119', 'score': 0.34}]
chr3 GH03I033218 33218358 33219400 1.78 [{'connected_gene': 'SUSD5', 'score': 567.59}, {'connected_gene': 'CRTAP', 'score': 4.77}, {'connected_gene': 'PIR48292', 'score': 0.77}]
chr3 GH03I033355 33355291 33356359 0.89 [{'connected_gene': 'FBXL2', 'score': 20.91}, {'connected_gene': 'SUSD5', 'score': 10.4}, {'connected_gene': 'UBP1', 'score': 10.38}, {'connected_gene': 'RNU7-110P', 'score': 0.22}]
chr3 GH03I033276 33276869 33279006 1.89 [{'connected_gene': 'FBXL2', 'score': 564.55}, {'connected_gene': 'SUSD5', 'score': 11.21}, {'connected_gene': 'RNU7-110P', 'score': 0.12}]
chr3 GH03I033032 33032169 33033646 0.67 [{'connected_gene': 'SEC13P1', 'score': 550.77}, {'connected_gene': 'TMPPE', 'score': 10.51}, {'connected_gene': 'GLB1', 'score': 10.51}, {'connected_gene': 'SUGT1P2', 'score': 9.34}, {'connected_gene': 'CNOT10-AS1', 'score': 9.34}, {'connected_gene': 'CNOT10', 'score': 9.33}, {'connected_gene': 'SUSD5', 'score': 9.05}, {'connected_gene': 'CRTAP', 'score': 5.1}, {'connected_gene': 'LOC105377022', 'score': 0.22}]
chr3 GH03I033149 33149282 33149964 0.58 [{'connected_gene': 'ENSG00000272149', 'score': 550.77}, {'connected_gene': 'SUSD5', 'score': 10.74}, {'connected_gene': 'CRTAP', 'score': 7.25}, {'connected_gene': 'ENSG00000271324', 'score': 4.42}, {'connected_gene': 'PIR50801', 'score': 0.77}]
chr3 GH03I033152 33152319 33154079 0.49 [{'connected_gene': 'PIR50801', 'score': 550.77}, {'connected_gene': 'SUSD5', 'score': 11.05}, {'connected_gene': 'CRTAP', 'score': 7.47}, {'connected_gene': 'ENSG00000272149', 'score': 0.44}]
chr3 GH03I033186 33186715 33187662 0.79 [{'connected_gene': 'ENSG00000230119', 'score': 0.77}, {'connected_gene': 'SUSD5', 'score': 0.29}, {'connected_gene': 'PIR50801', 'score': 0.29}]
chr3 GH03I033211 33211589 33211738 0.52 [{'connected_gene': 'PIR48292', 'score': 0.77}, {'connected_gene': 'SUSD5', 'score': 0.44}, {'connected_gene': 'ENSG00000230119', 'score': 0.34}]
chr3 GH03I033150 33150812 33151709 0.2 [{'connected_gene': 'ENSG00000272149', 'score': 0.77}, {'connected_gene': 'PIR50801', 'score': 0.77}, {'connected_gene': 'SUSD5', 'score': 0.2}]
chr3 GH03I033141 33141484 33142594 0.2 [{'connected_gene': 'PIR55934', 'score': 550.77}, {'connected_gene': 'CRTAP', 'score': 11.12}, {'connected_gene': 'SUSD5', 'score': 10.71}, {'connected_gene': 'GC03P033114', 'score': 0.31}]