Visualization of regulatory element with DNMs in transcripts



Visualization of de novo variants in transcripts
There is no corresponding data published yet, we will update it when such data available.


Visualization of original de novo CNV set
   There is no corresponding data published yet, we will update it when such data available.


Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I058495 58495755 58497801 0.49 [{'connected_gene': 'ACOX2', 'score': 11.19}, {'connected_gene': 'PXK', 'score': 11.02}, {'connected_gene': 'HTD2', 'score': 10.58}, {'connected_gene': 'RPP14', 'score': 10.58}, {'connected_gene': 'ENSG00000243384', 'score': 9.88}, {'connected_gene': 'FAM107A', 'score': 9.82}, {'connected_gene': 'ENSG00000272360', 'score': 8.79}, {'connected_gene': 'ABHD6', 'score': 7.76}, {'connected_gene': 'KCTD6', 'score': 0.77}, {'connected_gene': 'RPL27P9', 'score': 0.39}]
chr3 GH03I058556 58556895 58558707 0.65 [{'connected_gene': 'ACOX2', 'score': 17.64}, {'connected_gene': 'FAM107A', 'score': 12.05}, {'connected_gene': 'FAM3D-AS1', 'score': 11.5}, {'connected_gene': 'HTD2', 'score': 10.25}, {'connected_gene': 'RPP14', 'score': 10.25}, {'connected_gene': 'FAM3D', 'score': 10.04}, {'connected_gene': 'ENSG00000243384', 'score': 0.39}]
chr3 GH03I058560 58560601 58562723 0.85 [{'connected_gene': 'ACOX2', 'score': 17.69}, {'connected_gene': 'FAM3D-AS1', 'score': 11.51}, {'connected_gene': 'FAM107A', 'score': 11.29}, {'connected_gene': 'HTD2', 'score': 10.25}, {'connected_gene': 'RPP14', 'score': 10.25}, {'connected_gene': 'FAM3D', 'score': 9.63}, {'connected_gene': 'ENSG00000243384', 'score': 0.39}]
chr3 GH03I058563 58563794 58563943 0.31 [{'connected_gene': 'ACOX2', 'score': 18.26}, {'connected_gene': 'FAM3D-AS1', 'score': 11.51}, {'connected_gene': 'FAM107A', 'score': 11.3}, {'connected_gene': 'HTD2', 'score': 10.25}, {'connected_gene': 'RPP14', 'score': 10.25}, {'connected_gene': 'FAM3D', 'score': 9.63}, {'connected_gene': 'ENSG00000243384', 'score': 0.44}]
chr3 GH03I058315 58315998 58316829 0.2 [{'connected_gene': 'ABHD6', 'score': 9.92}, {'connected_gene': 'ENSG00000272182', 'score': 7.34}, {'connected_gene': 'PXK', 'score': 4.7}, {'connected_gene': 'PIR62243', 'score': 0.77}, {'connected_gene': 'HTD2', 'score': 0.39}, {'connected_gene': 'RPP14', 'score': 0.39}]
chr3 GH03I058332 58332175 58336743 2.28 [{'connected_gene': 'PXK', 'score': 560.03}, {'connected_gene': 'DENND6A', 'score': 80.28}, {'connected_gene': 'FLNB-AS1', 'score': 53.9}, {'connected_gene': 'FLNB', 'score': 51.17}, {'connected_gene': 'KCTD6', 'score': 33.91}, {'connected_gene': 'RPP14', 'score': 24.15}, {'connected_gene': 'PDE12', 'score': 22.54}, {'connected_gene': 'HTD2', 'score': 11.11}, {'connected_gene': 'FAM107A', 'score': 10.25}, {'connected_gene': 'ABHD6', 'score': 9.9}, {'connected_gene': 'ACOX2', 'score': 9.61}, {'connected_gene': 'ENSG00000272182', 'score': 7.51}, {'connected_gene': 'ENSG00000273493', 'score': 5.34}, {'connected_gene': 'LOC105377106', 'score': 0.37}]
chr3 GH03I058409 58409908 58411526 0.38 [{'connected_gene': 'PXK', 'score': 41.77}, {'connected_gene': 'RPP14', 'score': 32.24}, {'connected_gene': 'PDHB', 'score': 11.27}, {'connected_gene': 'HTD2', 'score': 11.02}, {'connected_gene': 'FLNB-AS1', 'score': 10.29}, {'connected_gene': 'FLNB', 'score': 10.27}, {'connected_gene': 'ABHD6', 'score': 7.32}, {'connected_gene': 'ENSG00000272182', 'score': 0.37}, {'connected_gene': 'ENSG00000275607', 'score': 0.29}]
chr3 GH03I058382 58382960 58389838 1.37 [{'connected_gene': 'PXK', 'score': 42.33}, {'connected_gene': 'RPP14', 'score': 33.67}, {'connected_gene': 'FAM107A', 'score': 15.98}, {'connected_gene': 'HTD2', 'score': 11.49}, {'connected_gene': 'ACOX2', 'score': 10.31}, {'connected_gene': 'ENSG00000243384', 'score': 10.17}, {'connected_gene': 'PDHB', 'score': 7.05}, {'connected_gene': 'FLNB-AS1', 'score': 4.69}, {'connected_gene': 'ENSG00000275607', 'score': 0.44}, {'connected_gene': 'ENSG00000272182', 'score': 0.26}]
chr3 GH03I058414 58414566 58415014 1.06 [{'connected_gene': 'PXK', 'score': 25.27}, {'connected_gene': 'HTD2', 'score': 12.43}, {'connected_gene': 'RPP14', 'score': 12.43}, {'connected_gene': 'ABHD6', 'score': 10.53}, {'connected_gene': 'FLNB-AS1', 'score': 10.31}, {'connected_gene': 'FLNB', 'score': 10.29}, {'connected_gene': 'ACOX2', 'score': 10.13}, {'connected_gene': 'ENSG00000272182', 'score': 0.39}, {'connected_gene': 'ENSG00000275607', 'score': 0.28}]
chr3 GH03I058518 58518160 58523994 1.18 [{'connected_gene': 'PXK', 'score': 18.23}, {'connected_gene': 'HTD2', 'score': 10.64}, {'connected_gene': 'RPP14', 'score': 10.64}, {'connected_gene': 'ENSG00000243384', 'score': 10.32}, {'connected_gene': 'FAM107A', 'score': 10.23}, {'connected_gene': 'ACOX2', 'score': 6.55}, {'connected_gene': 'ENSG00000272360', 'score': 4.7}, {'connected_gene': 'ABHD6', 'score': 4.56}, {'connected_gene': 'RPL27P9', 'score': 0.44}]
chr3 GH03I058404 58404534 58404683 0.8 [{'connected_gene': 'PXK', 'score': 12.17}, {'connected_gene': 'HTD2', 'score': 11.81}, {'connected_gene': 'RPP14', 'score': 11.81}, {'connected_gene': 'ENSG00000272182', 'score': 0.34}, {'connected_gene': 'ENSG00000275607', 'score': 0.31}]
chr3 GH03I058381 58381232 58381931 0.31 [{'connected_gene': 'PXK', 'score': 23.89}, {'connected_gene': 'HTD2', 'score': 11.49}, {'connected_gene': 'RPP14', 'score': 11.49}, {'connected_gene': 'ENSG00000275607', 'score': 0.77}, {'connected_gene': 'ENSG00000272182', 'score': 0.25}]
chr3 GH03I058172 58172882 58177432 1.63 [{'connected_gene': 'FLNB', 'score': 19.55}, {'connected_gene': 'DNASE1L3', 'score': 19.36}, {'connected_gene': 'RPP14', 'score': 17.23}, {'connected_gene': 'HTD2', 'score': 10.98}, {'connected_gene': 'FLNB-AS1', 'score': 10.77}, {'connected_gene': 'ABHD6', 'score': 10.72}, {'connected_gene': 'KCTD6', 'score': 1.38}, {'connected_gene': 'LOC105377650', 'score': 0.77}, {'connected_gene': 'ENSG00000283148', 'score': 0.77}]
chr3 GH03I058462 58462835 58464443 1.11 [{'connected_gene': 'KCTD6', 'score': 24.33}, {'connected_gene': 'PDHB', 'score': 19.77}, {'connected_gene': 'RPP14', 'score': 17.81}, {'connected_gene': 'PXK', 'score': 14.95}, {'connected_gene': 'DENND6A', 'score': 14.26}, {'connected_gene': 'ACOX2', 'score': 11.4}, {'connected_gene': 'HTD2', 'score': 11.12}, {'connected_gene': 'ENSG00000243384', 'score': 10.55}, {'connected_gene': 'FAM107A', 'score': 10.5}, {'connected_gene': 'FLNB-AS1', 'score': 10.23}, {'connected_gene': 'ENSG00000272360', 'score': 0.31}]
chr3 GH03I058271 58271774 58273238 0.89 [{'connected_gene': 'DNASE1L3', 'score': 11.96}, {'connected_gene': 'ABHD6', 'score': 11.66}, {'connected_gene': 'HTD2', 'score': 11.03}, {'connected_gene': 'RPP14', 'score': 11.03}, {'connected_gene': 'FLNB-AS1', 'score': 10.67}, {'connected_gene': 'FLNB', 'score': 10.59}]
chr3 GH03I058187 58187354 58192507 1.15 [{'connected_gene': 'DNASE1L3', 'score': 24.18}, {'connected_gene': 'RPP14', 'score': 21.65}, {'connected_gene': 'ABHD6', 'score': 15.88}, {'connected_gene': 'HTD2', 'score': 11.86}, {'connected_gene': 'FLNB', 'score': 11.29}, {'connected_gene': 'FLNB-AS1', 'score': 4.5}, {'connected_gene': 'ENSG00000243384', 'score': 3.98}, {'connected_gene': 'ENSG00000283511', 'score': 0.44}]
chr3 GH03I058182 58182308 58182638 0.24 [{'connected_gene': 'DNASE1L3', 'score': 12.18}, {'connected_gene': 'HTD2', 'score': 11.46}, {'connected_gene': 'RPP14', 'score': 11.46}, {'connected_gene': 'PXK', 'score': 9.98}, {'connected_gene': 'FLNB-AS1', 'score': 9.1}, {'connected_gene': 'ENSG00000283511', 'score': 0.77}]
chr3 GH03I058282 58282553 58286044 0.31 [{'connected_gene': 'RPP14', 'score': 38.73}, {'connected_gene': 'ABHD6', 'score': 21.58}, {'connected_gene': 'FLNB', 'score': 14.9}, {'connected_gene': 'HTD2', 'score': 11.65}, {'connected_gene': 'DNASE1L3', 'score': 10.87}, {'connected_gene': 'FLNB-AS1', 'score': 10.42}, {'connected_gene': 'ENSG00000243384', 'score': 9.43}, {'connected_gene': 'FAM107A', 'score': 9.41}]
chr3 GH03I058469 58469934 58473315 1.73 [{'connected_gene': 'RPP14', 'score': 31.64}, {'connected_gene': 'PXK', 'score': 22.34}, {'connected_gene': 'PDHB', 'score': 19.19}, {'connected_gene': 'KCTD6', 'score': 14.29}, {'connected_gene': 'ACOX2', 'score': 11.41}, {'connected_gene': 'HTD2', 'score': 11.11}, {'connected_gene': 'FAM107A', 'score': 10.11}, {'connected_gene': 'ENSG00000243384', 'score': 9.91}, {'connected_gene': 'ENSG00000272182', 'score': 7.91}, {'connected_gene': 'ENSG00000272360', 'score': 0.37}]
chr3 GH03I058412 58412648 58413327 0.2 [{'connected_gene': 'RPP14', 'score': 33.66}, {'connected_gene': 'PXK', 'score': 25.28}, {'connected_gene': 'PDHB', 'score': 20.6}, {'connected_gene': 'HTD2', 'score': 12.43}, {'connected_gene': 'ACOX2', 'score': 10.58}, {'connected_gene': 'ABHD6', 'score': 10.53}, {'connected_gene': 'FLNB-AS1', 'score': 10.31}, {'connected_gene': 'FLNB', 'score': 10.29}, {'connected_gene': 'ENSG00000272182', 'score': 0.37}, {'connected_gene': 'ENSG00000275607', 'score': 0.29}]
chr3 GH03I058423 58423669 58426119 0.49 [{'connected_gene': 'RPP14', 'score': 32.43}, {'connected_gene': 'PXK', 'score': 23.9}, {'connected_gene': 'KCTD6', 'score': 11.56}, {'connected_gene': 'HTD2', 'score': 11.2}, {'connected_gene': 'ACOX2', 'score': 10.68}, {'connected_gene': 'FAM107A', 'score': 9.43}, {'connected_gene': 'ABHD6', 'score': 7.16}, {'connected_gene': 'ENSG00000272182', 'score': 0.77}, {'connected_gene': 'ENSG00000275607', 'score': 0.25}]
chr3 GH03I058389 58389938 58393023 0.38 [{'connected_gene': 'RPP14', 'score': 32.28}, {'connected_gene': 'PXK', 'score': 24.75}, {'connected_gene': 'HTD2', 'score': 11.09}, {'connected_gene': 'ACOX2', 'score': 10.3}, {'connected_gene': 'ENSG00000243384', 'score': 10.17}, {'connected_gene': 'FAM107A', 'score': 10.15}, {'connected_gene': 'FLNB-AS1', 'score': 10.12}, {'connected_gene': 'FLNB', 'score': 10.1}, {'connected_gene': 'PDHB', 'score': 7.07}, {'connected_gene': 'ABHD6', 'score': 6.27}, {'connected_gene': 'ENSG00000275607', 'score': 0.39}, {'connected_gene': 'ENSG00000272182', 'score': 0.28}]
chr3 GH03I058372 58372606 58376067 0.38 [{'connected_gene': 'RPP14', 'score': 31.98}, {'connected_gene': 'PXK', 'score': 25.35}, {'connected_gene': 'HTD2', 'score': 11.24}, {'connected_gene': 'ACOX2', 'score': 10.33}, {'connected_gene': 'FLNB-AS1', 'score': 9.55}, {'connected_gene': 'FLNB', 'score': 9.52}, {'connected_gene': 'ABHD6', 'score': 6.88}, {'connected_gene': 'ENSG00000275607', 'score': 0.44}, {'connected_gene': 'LOC105377106', 'score': 0.37}]
chr3 GH03I058419 58419557 58420932 1.05 [{'connected_gene': 'RPP14', 'score': 33.52}, {'connected_gene': 'PXK', 'score': 24.59}, {'connected_gene': 'HTD2', 'score': 11.34}, {'connected_gene': 'FLNB-AS1', 'score': 9.97}, {'connected_gene': 'FLNB', 'score': 9.95}, {'connected_gene': 'ABHD6', 'score': 7.43}, {'connected_gene': 'ENSG00000272182', 'score': 0.44}, {'connected_gene': 'ENSG00000275607', 'score': 0.26}]
chr3 GH03I058393 58393398 58401950 0.31 [{'connected_gene': 'RPP14', 'score': 33.05}, {'connected_gene': 'PXK', 'score': 25.64}, {'connected_gene': 'HTD2', 'score': 11.82}, {'connected_gene': 'FLNB-AS1', 'score': 10.16}, {'connected_gene': 'FLNB', 'score': 10.14}, {'connected_gene': 'PDHB', 'score': 9.86}, {'connected_gene': 'ABHD6', 'score': 7.28}, {'connected_gene': 'ENSG00000275607', 'score': 0.37}, {'connected_gene': 'ENSG00000272182', 'score': 0.29}]
chr3 GH03I058273 58273887 58275476 0.38 [{'connected_gene': 'RPP14', 'score': 42.74}, {'connected_gene': 'DNASE1L3', 'score': 11.96}, {'connected_gene': 'ABHD6', 'score': 11.66}, {'connected_gene': 'HTD2', 'score': 11.03}, {'connected_gene': 'FLNB-AS1', 'score': 10.67}, {'connected_gene': 'FLNB', 'score': 10.58}]
chr3 GH03I058338 58338517 58339991 0.2 [{'connected_gene': 'RPP14', 'score': 24.4}, {'connected_gene': 'HTD2', 'score': 11.1}, {'connected_gene': 'ABHD6', 'score': 10.18}, {'connected_gene': 'ACOX2', 'score': 9.61}, {'connected_gene': 'ENSG00000273493', 'score': 5.08}, {'connected_gene': 'PXK', 'score': 4.73}, {'connected_gene': 'FLNB', 'score': 4.4}, {'connected_gene': 'LOC105377106', 'score': 0.37}]
chr3 GH03I058251 58251278 58254837 0.6 [{'connected_gene': 'RPP14', 'score': 32.6}, {'connected_gene': 'HTD2', 'score': 11.21}, {'connected_gene': 'PXK', 'score': 9.23}, {'connected_gene': 'ABHD6', 'score': 0.37}]
chr3 GH03I058305 58305654 58308963 2.29 [{'connected_gene': 'RPP14', 'score': 591.47}, {'connected_gene': 'HTD2', 'score': 550.77}, {'connected_gene': 'DENND6A', 'score': 13.74}, {'connected_gene': 'ABHD6', 'score': 9.95}, {'connected_gene': 'PDHB', 'score': 5.59}, {'connected_gene': 'ENSG00000273493', 'score': 5.48}, {'connected_gene': 'PXK', 'score': 4.65}, {'connected_gene': 'PIR62243', 'score': 0.39}]
chr3 GH03I058232 58232594 58232806 0.8 [{'connected_gene': 'HTD2', 'score': 11.11}, {'connected_gene': 'RPP14', 'score': 11.11}, {'connected_gene': 'FLNB-AS1', 'score': 10.74}, {'connected_gene': 'FLNB', 'score': 10.6}, {'connected_gene': 'ACOX2', 'score': 9.37}, {'connected_gene': 'DNASE1L3', 'score': 8.12}, {'connected_gene': 'ABHD6', 'score': 4.21}]
chr3 GH03I058196 58196075 58197468 0.77 [{'connected_gene': 'FLNB-AS1', 'score': 15.64}, {'connected_gene': 'ABHD6', 'score': 11.27}, {'connected_gene': 'FLNB', 'score': 11.1}, {'connected_gene': 'HTD2', 'score': 10.89}, {'connected_gene': 'RPP14', 'score': 10.89}, {'connected_gene': 'DNASE1L3', 'score': 10.66}, {'connected_gene': 'ENSG00000283511', 'score': 0.37}]
chr3 GH03I058316 58316913 58319739 0.31 [{'connected_gene': 'PIR62243', 'score': 550.77}, {'connected_gene': 'ACOX2', 'score': 10.62}, {'connected_gene': 'ABHD6', 'score': 10.47}, {'connected_gene': 'ENSG00000243384', 'score': 10.05}, {'connected_gene': 'FAM107A', 'score': 10.04}, {'connected_gene': 'PXK', 'score': 9.55}, {'connected_gene': 'ENSG00000272182', 'score': 8.2}, {'connected_gene': 'RPP14', 'score': 6.73}, {'connected_gene': 'PDHB', 'score': 6.09}, {'connected_gene': 'HTD2', 'score': 0.39}]
chr3 GH03I058427 58427770 58428806 0.38 [{'connected_gene': 'ENSG00000272182', 'score': 550.77}, {'connected_gene': 'PXK', 'score': 23.29}, {'connected_gene': 'RPP14', 'score': 17.71}, {'connected_gene': 'KCTD6', 'score': 11.57}, {'connected_gene': 'HTD2', 'score': 11.2}, {'connected_gene': 'ACOX2', 'score': 10.28}, {'connected_gene': 'FAM107A', 'score': 9.05}, {'connected_gene': 'ABHD6', 'score': 7.41}, {'connected_gene': 'PDHB', 'score': 0.44}]
chr3 GH03I058428 58428971 58429832 0.38 [{'connected_gene': 'ENSG00000272182', 'score': 550.77}, {'connected_gene': 'RPP14', 'score': 32.44}, {'connected_gene': 'PXK', 'score': 23.69}, {'connected_gene': 'KCTD6', 'score': 11.57}, {'connected_gene': 'HTD2', 'score': 11.2}, {'connected_gene': 'ACOX2', 'score': 10.28}, {'connected_gene': 'FAM107A', 'score': 9.05}, {'connected_gene': 'ABHD6', 'score': 5.46}, {'connected_gene': 'PDHB', 'score': 0.77}]
chr3 GH03I058378 58378836 58381027 0.49 [{'connected_gene': 'ENSG00000275607', 'score': 550.77}, {'connected_gene': 'RPP14', 'score': 32.69}, {'connected_gene': 'PXK', 'score': 25.2}, {'connected_gene': 'HTD2', 'score': 11.5}, {'connected_gene': 'ACOX2', 'score': 10.31}, {'connected_gene': 'ABHD6', 'score': 7.92}, {'connected_gene': 'PDHB', 'score': 4.23}, {'connected_gene': 'ENSG00000272182', 'score': 0.25}]
chr3 GH03I058177 58177600 58178495 1.78 [{'connected_gene': 'ENSG00000283511', 'score': 550.77}, {'connected_gene': 'ENSG00000283148', 'score': 550.77}, {'connected_gene': 'RPP14', 'score': 21.97}, {'connected_gene': 'DNASE1L3', 'score': 21.41}, {'connected_gene': 'HTD2', 'score': 11.46}, {'connected_gene': 'FLNB', 'score': 11.45}, {'connected_gene': 'ABHD6', 'score': 10.73}, {'connected_gene': 'PXK', 'score': 9.99}, {'connected_gene': 'LOC105377650', 'score': 0.44}]