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
ENST00000260443 [[55473003, 55474423], [55475512, 55475598], [55477559, 55477623], [55483172, 55483245], [55484917, 55485031], [55489007, 55489265]] [[55474349, 55474423], [55475512, 55475598], [55477559, 55477623], [55483172, 55483245], [55484917, 55485031], [55489007, 55489088]]
ENST00000562993 [[55474242, 55474423], [55475512, 55475598], [55477559, 55477623], [55483172, 55483245], [55484600, 55485031], [55489007, 55489112]] [[55484860, 55485031], [55489007, 55489088]]
ENST00000564344 [[55483172, 55483245], [55484917, 55485031], [55489165, 55489247]] None
ENST00000569386 [[55483190, 55483245], [55484917, 55485031], [55488550, 55488823]] [[55483190, 55483245], [55484917, 55485031], [55488550, 55488580]]
ENST00000565854 [[55484917, 55485031], [55486350, 55486381], [55486493, 55486557], [55487501, 55487789], [55488719, 55488827]] None
ENST00000562895 [[55484954, 55485031], [55486493, 55486557], [55488550, 55488844]] None
NM_016304 [[55473511, 55474423], [55475512, 55475598], [55477559, 55477623], [55483172, 55483245], [55484917, 55485031], [55489007, 55489231]] [[55474349, 55474423], [55475512, 55475598], [55477559, 55477623], [55483172, 55483245], [55484917, 55485031], [55489007, 55489088]]
Promoter
Chrom Start End Description
chr15 55489097 55489150 CAGE_peak_1_at_RSL24D1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I055275 55275977 55286361 1.67 [{'connected_gene': 'PIGB', 'score': 33.07}, {'connected_gene': 'RSL24D1', 'score': 11.23}, {'connected_gene': 'RAB27A', 'score': 8.4}, {'connected_gene': 'GC15P055286', 'score': 0.77}, {'connected_gene': 'GC15M057438', 'score': 0.22}]
chr15 GH15I055273 55273274 55274792 0.31 [{'connected_gene': 'PIGB', 'score': 13.07}, {'connected_gene': 'RSL24D1', 'score': 11.24}, {'connected_gene': 'GC15P055286', 'score': 0.39}, {'connected_gene': 'RAB27A', 'score': 0.25}, {'connected_gene': 'GC15M057438', 'score': 0.23}]
chr3 GH03I101778 101778309 101781742 2.17 [{'connected_gene': 'NXPE3', 'score': 577.24}, {'connected_gene': 'CEP97', 'score': 11.22}, {'connected_gene': 'RPL24', 'score': 10.89}, {'connected_gene': 'SENP7', 'score': 5.53}, {'connected_gene': 'ENSG00000249474', 'score': 0.26}]
chr3 GH03I101767 101767337 101770404 0.31 [{'connected_gene': 'NXPE3', 'score': 19.91}, {'connected_gene': 'CEP97', 'score': 11.93}, {'connected_gene': 'RPL24', 'score': 10.99}, {'connected_gene': 'ABI3BP', 'score': 4.33}]
chr3 GH03I101800 101800871 101802192 0.46 [{'connected_gene': 'NXPE3', 'score': 11.96}, {'connected_gene': 'CEP97', 'score': 10.87}, {'connected_gene': 'RPL24', 'score': 10.86}, {'connected_gene': 'ENSG00000249474', 'score': 0.34}]
chr3 GH03I101793 101793883 101795110 0.2 [{'connected_gene': 'NXPE3', 'score': 19.03}, {'connected_gene': 'CEP97', 'score': 10.88}, {'connected_gene': 'RPL24', 'score': 10.87}, {'connected_gene': 'ENSG00000249474', 'score': 0.29}]
chr3 GH03I101641 101641677 101641826 1.12 [{'connected_gene': 'NXPE3', 'score': 18.47}, {'connected_gene': 'RPL24', 'score': 10.58}, {'connected_gene': 'GC03P101648', 'score': 0.44}, {'connected_gene': 'PIR36650', 'score': 0.44}]
chr3 GH03I101809 101809001 101810917 1.06 [{'connected_gene': 'NXPE3', 'score': 18.98}, {'connected_gene': 'RPL24', 'score': 10.84}, {'connected_gene': 'ENSG00000249474', 'score': 0.37}]
chr3 GH03I101803 101803297 101803526 0.79 [{'connected_gene': 'NXPE3', 'score': 10.98}, {'connected_gene': 'ZBTB11-AS1', 'score': 10.47}, {'connected_gene': 'ZBTB11', 'score': 10.47}, {'connected_gene': 'RPL24', 'score': 10.47}, {'connected_gene': 'ENSG00000249474', 'score': 0.34}]
chr3 GH03I101795 101795601 101796636 0.2 [{'connected_gene': 'CEP97', 'score': 10.88}, {'connected_gene': 'RPL24', 'score': 10.87}, {'connected_gene': 'NXPE3', 'score': 0.37}, {'connected_gene': 'ENSG00000249474', 'score': 0.31}]
chr3 GH03I102223 102223193 102223600 0.62 [{'connected_gene': 'NFKBIZ', 'score': 22.55}, {'connected_gene': 'ENSG00000249474', 'score': 12.29}, {'connected_gene': 'RPL24', 'score': 10.2}, {'connected_gene': 'ZPLD1', 'score': 10.05}, {'connected_gene': 'GC03P102210', 'score': 0.37}, {'connected_gene': 'PIR36108', 'score': 0.37}, {'connected_gene': 'GC03P102209', 'score': 0.37}, {'connected_gene': 'GC03M102416', 'score': 0.08}]
chr3 GH03I102225 102225477 102225666 0.88 [{'connected_gene': 'NFKBIZ', 'score': 12.29}, {'connected_gene': 'ENSG00000249474', 'score': 12.29}, {'connected_gene': 'RPL24', 'score': 10.2}, {'connected_gene': 'ZPLD1', 'score': 10.05}, {'connected_gene': 'GC03P102210', 'score': 0.37}, {'connected_gene': 'PIR36108', 'score': 0.37}, {'connected_gene': 'GC03P102209', 'score': 0.37}, {'connected_gene': 'GC03M102416', 'score': 0.08}]
chr3 GH03I101845 101845524 101864678 2.43 [{'connected_gene': 'NFKBIZ', 'score': 550.31}, {'connected_gene': 'RPS18P5', 'score': 9.72}, {'connected_gene': 'RPL24', 'score': 9.2}, {'connected_gene': 'ZBTB11-AS1', 'score': 5.06}, {'connected_gene': 'PDCL3P4', 'score': 4.75}, {'connected_gene': 'SENP7', 'score': 4.29}, {'connected_gene': 'GC03P101864', 'score': 0.44}, {'connected_gene': 'GC03P101863', 'score': 0.44}, {'connected_gene': 'GC03P101828', 'score': 0.31}]
chr15 GH15I055211 55211704 55212020 0.24 [{'connected_gene': 'RAB27A', 'score': 10.89}, {'connected_gene': 'PIGB', 'score': 3.13}, {'connected_gene': 'GC15M057438', 'score': 0.39}, {'connected_gene': 'RSL24D1', 'score': 0.39}]
chr15 GH15I055248 55248602 55254343 1.53 [{'connected_gene': 'RAB27A', 'score': 13.57}, {'connected_gene': 'RSL24D1', 'score': 11.24}, {'connected_gene': 'PIGB', 'score': 6.24}, {'connected_gene': 'PYGO1', 'score': 4.77}, {'connected_gene': 'CCPG1', 'score': 4.24}, {'connected_gene': 'GC15M057438', 'score': 0.31}, {'connected_gene': 'GC15P055286', 'score': 0.29}]
chr15 GH15I054803 54803130 54803841 0.96 [{'connected_gene': 'RAB27A', 'score': 2.13}, {'connected_gene': 'RSL24D1', 'score': 1.55}, {'connected_gene': 'GC15P054745', 'score': 0.22}, {'connected_gene': 'GC15M057435', 'score': 0.07}]
chr3 GH03I101560 101560917 101563207 2.03 [{'connected_gene': 'TRMT10C', 'score': 550.77}, {'connected_gene': 'SENP7', 'score': 24.84}, {'connected_gene': 'NXPE3', 'score': 12.77}, {'connected_gene': 'RPL24', 'score': 10.09}, {'connected_gene': 'ZBTB11-AS1', 'score': 9.68}, {'connected_gene': 'IMPG2', 'score': 5.85}, {'connected_gene': 'PDCL3P4', 'score': 5.1}, {'connected_gene': 'PCNP', 'score': 0.39}]
chr15 GH15I056037 56037742 56044220 1.53 [{'connected_gene': 'ZNF280D', 'score': 48.6}, {'connected_gene': 'RSL24D1', 'score': 23.8}, {'connected_gene': 'TEX9', 'score': 21.36}, {'connected_gene': 'PYGO1', 'score': 21.28}, {'connected_gene': 'PRTG', 'score': 21.17}, {'connected_gene': 'RFX7', 'score': 20.34}, {'connected_gene': 'MNS1', 'score': 19.09}, {'connected_gene': 'TCF12', 'score': 12.6}, {'connected_gene': 'PIGBOS1', 'score': 11.12}, {'connected_gene': 'RN7SL568P', 'score': 0.39}, {'connected_gene': 'CD24P2', 'score': 0.29}]
chr15 GH15I055257 55257563 55258600 0.4 [{'connected_gene': 'RSL24D1', 'score': 10.75}, {'connected_gene': 'PIGB', 'score': 8.85}, {'connected_gene': 'GC15P055286', 'score': 0.31}, {'connected_gene': 'GC15M057438', 'score': 0.29}, {'connected_gene': 'RAB27A', 'score': 0.21}]
chr15 GH15I055194 55194906 55198317 1.83 [{'connected_gene': 'RSL24D1', 'score': 559.81}, {'connected_gene': 'PIGB', 'score': 24.14}, {'connected_gene': 'PIGBOS1', 'score': 10.26}, {'connected_gene': 'RAB27A', 'score': 10.02}, {'connected_gene': 'C15orf65', 'score': 4.2}, {'connected_gene': 'ENSG00000279145', 'score': 0.37}, {'connected_gene': 'GC15M057438', 'score': 0.31}]
chr15 GH15I055496 55495400 55495600 0.2 [{'connected_gene': 'RSL24D1', 'score': 11.27}, {'connected_gene': 'RAB27A', 'score': 7.37}, {'connected_gene': 'DNAAF4-CCPG1', 'score': 0.77}, {'connected_gene': 'DNAAF4', 'score': 0.39}, {'connected_gene': 'LOC100420711', 'score': 0.23}]
chr15 GH15I055231 55231089 55232625 0.31 [{'connected_gene': 'RSL24D1', 'score': 11.13}, {'connected_gene': 'RAB27A', 'score': 5.0}, {'connected_gene': 'GC15M057438', 'score': 0.44}, {'connected_gene': 'GC15P055286', 'score': 0.23}]
chr15 GH15I055254 55254559 55257021 1.07 [{'connected_gene': 'RSL24D1', 'score': 11.23}, {'connected_gene': 'RAB27A', 'score': 8.31}, {'connected_gene': 'GC15M057438', 'score': 0.29}, {'connected_gene': 'GC15P055286', 'score': 0.29}]
chr15 GH15I055227 55227453 55229027 0.31 [{'connected_gene': 'RSL24D1', 'score': 16.02}, {'connected_gene': 'RAB27A', 'score': 5.1}, {'connected_gene': 'GC15M057438', 'score': 0.44}, {'connected_gene': 'GC15P055286', 'score': 0.22}]
chr15 GH15I055218 55218986 55220096 0.2 [{'connected_gene': 'RSL24D1', 'score': 17.77}, {'connected_gene': 'RAB27A', 'score': 5.91}, {'connected_gene': 'GC15M057438', 'score': 0.77}]
chr15 GH15I055229 55229859 55230617 0.4 [{'connected_gene': 'RSL24D1', 'score': 10.4}, {'connected_gene': 'GC15M057438', 'score': 0.44}, {'connected_gene': 'GC15P055286', 'score': 0.22}, {'connected_gene': 'RAB27A', 'score': 0.17}]
chr15 GH15I055217 55217601 55218000 1.16 [{'connected_gene': 'RSL24D1', 'score': 12.14}, {'connected_gene': 'GC15M057438', 'score': 0.44}, {'connected_gene': 'RAB27A', 'score': 0.15}]
chr3 GH03I101683 101683221 101688387 2.37 [{'connected_gene': 'RPL24', 'score': 574.35}, {'connected_gene': 'LOC105374013', 'score': 550.77}, {'connected_gene': 'GC03P101686', 'score': 550.77}, {'connected_gene': 'ZBTB11-AS1', 'score': 42.56}, {'connected_gene': 'SENP7', 'score': 34.15}, {'connected_gene': 'RPS18P5', 'score': 26.94}, {'connected_gene': 'ZNF90P1', 'score': 19.03}, {'connected_gene': 'ZBTB11', 'score': 16.4}, {'connected_gene': 'TFG', 'score': 10.71}, {'connected_gene': 'PDCL3P4', 'score': 10.62}, {'connected_gene': 'NXPE3', 'score': 10.2}, {'connected_gene': 'PCNP', 'score': 2.81}, {'connected_gene': 'TRMT10C', 'score': 1.36}, {'connected_gene': 'NFKBIZ', 'score': 1.32}]
chr15 GH15I055495 55495063 55495212 0.2 [{'connected_gene': 'RSL24D1', 'score': 11.27}, {'connected_gene': 'DNAAF4-CCPG1', 'score': 0.77}, {'connected_gene': 'DNAAF4', 'score': 0.39}, {'connected_gene': 'LOC100420711', 'score': 0.23}]
chr15 GH15I055494 55494801 55495001 0.2 [{'connected_gene': 'RSL24D1', 'score': 11.27}, {'connected_gene': 'DNAAF4-CCPG1', 'score': 0.77}, {'connected_gene': 'DNAAF4', 'score': 0.39}, {'connected_gene': 'LOC100420711', 'score': 0.23}]
chr15 GH15I055791 55791147 55792935 0.86 [{'connected_gene': 'PRTG', 'score': 11.34}, {'connected_gene': 'PYGO1', 'score': 9.82}, {'connected_gene': 'RSL24D1', 'score': 5.34}, {'connected_gene': 'GC15P055749', 'score': 0.26}, {'connected_gene': 'NEDD4', 'score': 0.08}]
chr15 GH15I055497 55497600 55499140 1.92 [{'connected_gene': 'DNAAF4', 'score': 556.74}, {'connected_gene': 'DNAAF4-CCPG1', 'score': 550.77}, {'connected_gene': 'RSL24D1', 'score': 13.48}, {'connected_gene': 'PYGO1', 'score': 11.65}, {'connected_gene': 'C15orf65', 'score': 10.38}, {'connected_gene': 'PIGB', 'score': 9.63}, {'connected_gene': 'LOC100420711', 'score': 0.22}]
chr15 GH15I055401 55401729 55409389 2.1 [{'connected_gene': 'C15orf65', 'score': 560.67}, {'connected_gene': 'CCPG1', 'score': 550.77}, {'connected_gene': 'RSL24D1', 'score': 23.81}, {'connected_gene': 'NEDD4', 'score': 11.87}, {'connected_gene': 'PYGO1', 'score': 11.58}, {'connected_gene': 'DNAAF4', 'score': 11.28}, {'connected_gene': 'PIGBOS1', 'score': 10.62}, {'connected_gene': 'PIGB', 'score': 7.14}, {'connected_gene': 'GC15M057427', 'score': 0.44}, {'connected_gene': 'DNAAF4-CCPG1', 'score': 0.16}]
chr3 GH03I101643 101643269 101645033 1.28 [{'connected_gene': 'ZBTB11-AS1', 'score': 24.26}, {'connected_gene': 'RPL24', 'score': 22.97}, {'connected_gene': 'NXPE3', 'score': 17.86}, {'connected_gene': 'SENP7', 'score': 17.15}, {'connected_gene': 'TFG', 'score': 12.43}, {'connected_gene': 'PDCL3P4', 'score': 6.06}, {'connected_gene': 'GC03P101648', 'score': 0.77}, {'connected_gene': 'PIR36650', 'score': 0.44}]
chr3 GH03I101720 101720639 101723000 0.99 [{'connected_gene': 'GC03P101720', 'score': 550.77}, {'connected_gene': 'GC03P101721', 'score': 550.77}, {'connected_gene': 'NXPE3', 'score': 29.62}, {'connected_gene': 'ZBTB11', 'score': 22.35}, {'connected_gene': 'ZBTB11-AS1', 'score': 15.44}, {'connected_gene': 'RPL24', 'score': 11.62}, {'connected_gene': 'CEP97', 'score': 0.77}]
chr3 GH03I101630 101630525 101631334 0.2 [{'connected_gene': 'PIR53925', 'score': 550.77}, {'connected_gene': 'NXPE3', 'score': 17.58}, {'connected_gene': 'ZBTB11-AS1', 'score': 11.12}, {'connected_gene': 'TRMT10C', 'score': 10.84}, {'connected_gene': 'RPL24', 'score': 10.57}, {'connected_gene': 'ENSG00000212319', 'score': 0.77}, {'connected_gene': 'GC03M101629', 'score': 0.77}]
chr15 GH15I055220 55220175 55223539 1.6 [{'connected_gene': 'GC15M057438', 'score': 550.77}, {'connected_gene': 'RAB27A', 'score': 21.56}, {'connected_gene': 'PIGB', 'score': 9.62}, {'connected_gene': 'CCPG1', 'score': 5.99}, {'connected_gene': 'RSL24D1', 'score': 0.34}]
chr15 GH15I055439 55439783 55439912 0.57 [{'connected_gene': 'GC15P055441', 'score': 550.77}, {'connected_gene': 'RSL24D1', 'score': 10.01}, {'connected_gene': 'C15orf65', 'score': 0.29}, {'connected_gene': 'DNAAF4-CCPG1', 'score': 0.22}, {'connected_gene': 'DNAAF4', 'score': 0.2}]
chr3 GH03I101629 101629140 101629655 0.56 [{'connected_gene': 'ENSG00000212319', 'score': 550.77}, {'connected_gene': 'GC03M101629', 'score': 550.77}, {'connected_gene': 'ZBTB11-AS1', 'score': 11.37}, {'connected_gene': 'ZBTB11', 'score': 11.37}, {'connected_gene': 'RPL24', 'score': 11.35}, {'connected_gene': 'TRMT10C', 'score': 11.22}, {'connected_gene': 'PIR53925', 'score': 0.77}]

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