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
ENST00000341197 [[42543503, 42543630], [42602006, 42602072], [42635186, 42635432], [42679945, 42680185], [42682938, 42683166], [42693416, 42693497], [42694351, 42694747], [42695369, 42695497], [42697289, 42697657]] [[42543531, 42543630], [42602006, 42602072], [42635186, 42635432], [42679945, 42680185], [42682938, 42683166], [42693416, 42693497], [42694351, 42694747], [42695369, 42695497], [42697289, 42697326]]
ENST00000423191 [[42544789, 42544848], [42602006, 42602072], [42635186, 42635432], [42679945, 42680185], [42682938, 42683166], [42693416, 42693497], [42694351, 42694747], [42695369, 42695497], [42697289, 42697554]] [[42602033, 42602072], [42635186, 42635432], [42679945, 42680185], [42682938, 42683166], [42693416, 42693497], [42694351, 42694747], [42695369, 42695497], [42697289, 42697326]]
ENST00000372999 [[42544806, 42544848], [42583787, 42583912], [42602006, 42602072], [42635186, 42635432], [42679945, 42680185], [42682938, 42683166], [42693416, 42693497], [42694351, 42694747], [42695369, 42695497], [42697289, 42698256]] [[42602033, 42602072], [42635186, 42635432], [42679945, 42680185], [42682938, 42683166], [42693416, 42693497], [42694351, 42694747], [42695369, 42695497], [42697289, 42697326]]
ENST00000358131 [[42574344, 42574678], [42602006, 42602072], [42635186, 42635432], [42679945, 42680185], [42682938, 42683166], [42694351, 42694747], [42695369, 42695497], [42697289, 42698256]] [[42574552, 42574678], [42602006, 42602072], [42635186, 42635432], [42679945, 42680185], [42682938, 42683166], [42694351, 42694747], [42695369, 42695497], [42697289, 42697326]]
ENST00000435864 [[42667643, 42667869], [42679945, 42680185], [42682938, 42683166], [42693416, 42693497], [42694351, 42694747], [42695369, 42695497], [42697289, 42698252]] None
ENST00000413823 [[42682990, 42683166], [42695369, 42695497], [42697289, 42698256]] [[42682990, 42683166], [42695369, 42695497], [42697289, 42697576]]
NM_001098797 [[42543491, 42543630], [42602006, 42602072], [42635186, 42635432], [42679945, 42680185], [42682938, 42683166], [42693416, 42693497], [42694351, 42694747], [42695369, 42695497], [42697289, 42698256]] [[42543531, 42543630], [42602006, 42602072], [42635186, 42635432], [42679945, 42680185], [42682938, 42683166], [42693416, 42693497], [42694351, 42694747], [42695369, 42695497], [42697289, 42697326]]
NM_001098796 [[42544781, 42544848], [42602006, 42602072], [42635186, 42635432], [42679945, 42680185], [42682938, 42683166], [42693416, 42693497], [42694351, 42694747], [42695369, 42695497], [42697289, 42698256]] [[42602033, 42602072], [42635186, 42635432], [42679945, 42680185], [42682938, 42683166], [42693416, 42693497], [42694351, 42694747], [42695369, 42695497], [42697289, 42697326]]
NM_032883 [[42544781, 42544848], [42583787, 42583912], [42602006, 42602072], [42635186, 42635432], [42679945, 42680185], [42682938, 42683166], [42693416, 42693497], [42694351, 42694747], [42695369, 42695497], [42697289, 42698256]] [[42602033, 42602072], [42635186, 42635432], [42679945, 42680185], [42682938, 42683166], [42693416, 42693497], [42694351, 42694747], [42695369, 42695497], [42697289, 42697326]]
NM_001098798 [[42574535, 42574678], [42602006, 42602072], [42635186, 42635432], [42679945, 42680185], [42682938, 42683166], [42694351, 42694747], [42695369, 42695497], [42697289, 42698256]] [[42574552, 42574678], [42602006, 42602072], [42635186, 42635432], [42679945, 42680185], [42682938, 42683166], [42694351, 42694747], [42695369, 42695497], [42697289, 42697326]]
Promoter
Chrom Start End Description
chr20 42543441 42543497 CAGE_peak_1_at_TOX2_5end
chr20 42543506 42543549 CAGE_peak_2_at_TOX2_5end
chr20 42544761 42544775 CAGE_peak_6_at_TOX2_5end
chr20 42544782 42544828 CAGE_peak_4_at_TOX2_5end
chr20 42574261 42574270 CAGE_peak_14_at_TOX2_5end
chr20 42574317 42574328 CAGE_peak_12_at_TOX2_5end
chr20 42574529 42574563 CAGE_peak_3_at_TOX2_5end
chr20 42602000 42602034 CAGE_peak_5_at_TOX2_5end
chr20 42667673 42667680 CAGE_peak_15_at_TOX2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr20 GH20I043914 43914400 43916834 2.02 [{'connected_gene': 'TOX2', 'score': 587.48}, {'connected_gene': 'SRSF6', 'score': 15.38}, {'connected_gene': 'RN7SL443P', 'score': 0.16}]
chr20 GH20I043849 43849139 43850813 1.01 [{'connected_gene': 'TOX2', 'score': 21.89}, {'connected_gene': 'SRSF6', 'score': 15.78}, {'connected_gene': 'LOC105372625', 'score': 0.31}, {'connected_gene': 'LINC01728', 'score': 0.26}]
chr20 GH20I043957 43957854 43961036 1.6 [{'connected_gene': 'TOX2', 'score': 18.08}, {'connected_gene': 'OSER1', 'score': 4.62}, {'connected_gene': 'RN7SL443P', 'score': 0.25}]
chr20 GH20I043924 43924101 43927035 1.35 [{'connected_gene': 'TOX2', 'score': 5.53}, {'connected_gene': 'IFT52', 'score': 1.36}, {'connected_gene': 'RN7SL443P', 'score': 0.18}]
chr20 GH20I043936 43936094 43944658 1.53 [{'connected_gene': 'TOX2', 'score': 13.08}, {'connected_gene': 'L3MBTL1', 'score': 11.53}, {'connected_gene': 'OSER1', 'score': 2.93}, {'connected_gene': 'RN7SL443P', 'score': 0.2}]
chr20 GH20I043964 43963033 43963718 0.63 [{'connected_gene': 'TOX2', 'score': 11.12}, {'connected_gene': 'PTPRT', 'score': 5.12}, {'connected_gene': 'RN7SL443P', 'score': 0.26}]
chr20 GH20I043963 43963721 43965037 1.07 [{'connected_gene': 'TOX2', 'score': 11.12}, {'connected_gene': 'TOMM34', 'score': 4.21}, {'connected_gene': 'RN7SL443P', 'score': 0.26}]
chr20 GH20I043951 43946016 43946514 0.31 [{'connected_gene': 'TOX2', 'score': 12.27}, {'connected_gene': 'RN7SL443P', 'score': 0.21}]
chr20 GH20I043950 43949261 43949647 0.31 [{'connected_gene': 'TOX2', 'score': 12.27}, {'connected_gene': 'RN7SL443P', 'score': 0.22}]
chr20 GH20I043965 43965206 43965898 0.2 [{'connected_gene': 'TOX2', 'score': 11.11}, {'connected_gene': 'RN7SL443P', 'score': 0.26}]
chr20 GH20I043969 43968932 43969985 0.46 [{'connected_gene': 'TOX2', 'score': 11.41}, {'connected_gene': 'RN7SL443P', 'score': 0.28}]
chr20 GH20I043947 43946941 43947927 0.51 [{'connected_gene': 'TOX2', 'score': 12.27}, {'connected_gene': 'RN7SL443P', 'score': 0.22}]
chr20 GH20I043945 43945634 43945693 0.61 [{'connected_gene': 'TOX2', 'score': 561.57}, {'connected_gene': 'RN7SL443P', 'score': 0.21}]
chr20 GH20I043949 43949706 43951154 1.25 [{'connected_gene': 'TOX2', 'score': 12.25}, {'connected_gene': 'RN7SL443P', 'score': 0.22}]
chr20 GH20I043917 43917008 43917404 0.98 [{'connected_gene': 'TOX2', 'score': 17.72}, {'connected_gene': 'RN7SL443P', 'score': 0.16}]
chr20 GH20I043946 43945847 43945906 0.5 [{'connected_gene': 'TOX2', 'score': 562.27}, {'connected_gene': 'RN7SL443P', 'score': 0.21}]
chr20 GH20I043916 43916841 43916990 0.63 [{'connected_gene': 'TOX2', 'score': 0.77}, {'connected_gene': 'RN7SL443P', 'score': 0.16}]
chr20 GH20I043984 43984543 43985503 0.49 [{'connected_gene': 'TOX2', 'score': 11.1}, {'connected_gene': 'RN7SL443P', 'score': 0.34}]
chr20 GH20I044017 44017777 44020829 1.15 [{'connected_gene': 'TOX2', 'score': 6.0}, {'connected_gene': 'RN7SL443P', 'score': 0.39}, {'connected_gene': 'GC20P044130', 'score': 0.14}]
chr20 GH20I043952 43952265 43957507 1.28 [{'connected_gene': 'TOX2', 'score': 17.03}, {'connected_gene': 'RN7SL443P', 'score': 0.23}]
chr20 GH20I043948 43948548 43949110 0.38 [{'connected_gene': 'TOX2', 'score': 12.27}, {'connected_gene': 'RN7SL443P', 'score': 0.22}]
chr20 GH20I043962 43962171 43962719 0.46 [{'connected_gene': 'TOX2', 'score': 17.97}, {'connected_gene': 'RN7SL443P', 'score': 0.26}]
chr20 GH20I043842 43842245 43845783 0.94 [{'connected_gene': 'TOX2', 'score': 38.8}, {'connected_gene': 'LOC105372625', 'score': 0.37}, {'connected_gene': 'LINC01728', 'score': 0.23}]
chr20 GH20I044067 44067963 44071390 1.43 [{'connected_gene': 'OSER1', 'score': 2.67}, {'connected_gene': 'RN7SL443P', 'score': 0.21}, {'connected_gene': 'GC20P044130', 'score': 0.21}, {'connected_gene': 'TOX2', 'score': 0.1}]
chr20 GH20I043490 43490127 43490472 0.34 [{'connected_gene': 'SGK2', 'score': 2.7}, {'connected_gene': 'TOX2', 'score': 2.35}, {'connected_gene': 'PTPRT', 'score': 1.81}, {'connected_gene': 'L3MBTL1', 'score': 1.61}, {'connected_gene': 'RNU6-1251P', 'score': 0.37}]
chr20 GH20I044056 44056161 44056310 0.54 [{'connected_gene': 'RN7SL443P', 'score': 0.25}, {'connected_gene': 'GC20P044130', 'score': 0.19}, {'connected_gene': 'TOX2', 'score': 0.11}]
chr20 GH20I043973 43973794 43974248 0.2 [{'connected_gene': 'RN7SL443P', 'score': 0.29}, {'connected_gene': 'TOX2', 'score': 0.22}]
chr20 GH20I043974 43974609 43976167 0.76 [{'connected_gene': 'RN7SL443P', 'score': 0.29}, {'connected_gene': 'TOX2', 'score': 0.21}]
chr20 GH20I043982 43982002 43982354 0.31 [{'connected_gene': 'RN7SL443P', 'score': 0.31}, {'connected_gene': 'TOX2', 'score': 0.2}]
chr20 GH20I044015 44015378 44015682 1.11 [{'connected_gene': 'RN7SL443P', 'score': 0.44}, {'connected_gene': 'TOX2', 'score': 0.15}, {'connected_gene': 'GC20P044130', 'score': 0.14}]
chr20 GH20I044029 44029161 44029330 0.65 [{'connected_gene': 'RN7SL443P', 'score': 0.34}, {'connected_gene': 'GC20P044130', 'score': 0.15}, {'connected_gene': 'TOX2', 'score': 0.14}]
chr20 GH20I043968 43968393 43968894 0.31 [{'connected_gene': 'RN7SL443P', 'score': 0.28}, {'connected_gene': 'TOX2', 'score': 0.23}]
chr20 GH20I044001 44001781 44001890 0.67 [{'connected_gene': 'RN7SL443P', 'score': 0.44}, {'connected_gene': 'TOX2', 'score': 0.17}]
chr20 GH20I043894 43894641 43894790 0.31 [{'connected_gene': 'LINC01728', 'score': 550.77}, {'connected_gene': 'TOX2', 'score': 11.91}]
chr20 GH20I043904 43904341 43904490 0.43 [{'connected_gene': 'LINC01728', 'score': 0.44}, {'connected_gene': 'TOX2', 'score': 0.39}]

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