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
ENST00000287611 [[186435064, 186435526], [186437893, 186438004], [186440225, 186440310], [186442876, 186443049], [186445025, 186445133], [186449333, 186449418], [186450290, 186450463], [186456887, 186456995], [186457116, 186457203], [186459310, 186459388], [186461493, 186461743]] [[186435331, 186435526], [186437893, 186438004], [186440225, 186440310], [186442876, 186443049], [186445025, 186445133], [186449333, 186449418], [186450290, 186450463], [186456887, 186456995], [186457116, 186457203], [186459310, 186459388], [186461493, 186461574]]
ENST00000265023 [[186435119, 186435526], [186437893, 186438004], [186440225, 186440310], [186442876, 186443049], [186445025, 186445133], [186449333, 186449418], [186450290, 186450463], [186456887, 186456995], [186457116, 186457203], [186459310, 186461408]] [[186435331, 186435526], [186437893, 186438004], [186440225, 186440310], [186442876, 186443049], [186445025, 186445133], [186449333, 186449418], [186450290, 186450463], [186456887, 186456995], [186457116, 186457203], [186459310, 186460120]]
ENST00000447445 [[186435136, 186435526], [186437893, 186438004], [186440225, 186440310], [186442876, 186443049], [186449333, 186449418], [186450290, 186450463], [186456887, 186456995], [186457116, 186457203], [186459310, 186459388], [186461493, 186461594]] [[186435331, 186435526], [186437893, 186438004], [186440225, 186440310], [186442876, 186443049], [186449333, 186449418], [186450290, 186450463], [186456887, 186456995], [186457116, 186457203], [186459310, 186459388], [186461493, 186461574]]
NM_001102416 [[186435097, 186435526], [186437893, 186438004], [186440225, 186440310], [186442876, 186443049], [186445025, 186445133], [186449333, 186449418], [186450290, 186450463], [186456887, 186456995], [186457116, 186457203], [186459310, 186460683]] [[186435331, 186435526], [186437893, 186438004], [186440225, 186440310], [186442876, 186443049], [186445025, 186445133], [186449333, 186449418], [186450290, 186450463], [186456887, 186456995], [186457116, 186457203], [186459310, 186460120]]
NM_001166451 [[186435097, 186435526], [186437893, 186438004], [186440225, 186440310], [186442876, 186443049], [186449333, 186449418], [186450290, 186450463], [186456887, 186456995], [186457116, 186457203], [186459310, 186459388], [186461493, 186462199]] [[186435331, 186435526], [186437893, 186438004], [186440225, 186440310], [186442876, 186443049], [186449333, 186449418], [186450290, 186450463], [186456887, 186456995], [186457116, 186457203], [186459310, 186459388], [186461493, 186461574]]
NM_000893 [[186435097, 186435526], [186437893, 186438004], [186440225, 186440310], [186442876, 186443049], [186445025, 186445133], [186449333, 186449418], [186450290, 186450463], [186456887, 186456995], [186457116, 186457203], [186459310, 186459388], [186461493, 186462199]] [[186435331, 186435526], [186437893, 186438004], [186440225, 186440310], [186442876, 186443049], [186445025, 186445133], [186449333, 186449418], [186450290, 186450463], [186456887, 186456995], [186457116, 186457203], [186459310, 186459388], [186461493, 186461574]]
Promoter
Chrom Start End Description
chr3 186435111 186435126 CAGE_peak_3_at_KNG1_5end
chr3 186435140 186435158 CAGE_peak_2_at_KNG1_5end
chr3 186435171 186435182 CAGE_peak_4_at_KNG1_5end
chr3 186435192 186435205 CAGE_peak_1_at_KNG1_5end
chr3 186435260 186435272 CAGE_peak_5_at_KNG1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I186821 186821364 186822000 0.82 [{'connected_gene': 'SNORA63', 'score': 11.7}, {'connected_gene': 'ENSG00000200418', 'score': 11.68}, {'connected_gene': 'EIF4A2', 'score': 11.68}, {'connected_gene': 'SNORA81', 'score': 11.68}, {'connected_gene': 'ADIPOQ', 'score': 11.31}, {'connected_gene': 'SNORD2', 'score': 11.3}, {'connected_gene': 'AHSG', 'score': 10.64}, {'connected_gene': 'KNG1', 'score': 10.36}, {'connected_gene': 'ADIPOQ-AS1', 'score': 10.21}, {'connected_gene': 'LINC02043', 'score': 0.77}, {'connected_gene': 'ENSG00000231724', 'score': 0.39}]
chr3 GH03I186822 186822112 186822261 0.46 [{'connected_gene': 'SNORA63', 'score': 11.7}, {'connected_gene': 'ENSG00000200418', 'score': 11.68}, {'connected_gene': 'EIF4A2', 'score': 11.68}, {'connected_gene': 'SNORA81', 'score': 11.68}, {'connected_gene': 'ADIPOQ', 'score': 11.31}, {'connected_gene': 'SNORD2', 'score': 11.3}, {'connected_gene': 'AHSG', 'score': 10.64}, {'connected_gene': 'KNG1', 'score': 10.36}, {'connected_gene': 'ADIPOQ-AS1', 'score': 10.21}, {'connected_gene': 'LINC02043', 'score': 0.77}, {'connected_gene': 'ENSG00000231724', 'score': 0.39}]
chr3 GH03I186616 186616724 186617975 1.11 [{'connected_gene': 'RFC4', 'score': 10.68}, {'connected_gene': 'ENSG00000231724', 'score': 10.2}, {'connected_gene': 'KNG1', 'score': 10.17}, {'connected_gene': 'AHSG', 'score': 0.77}, {'connected_gene': 'ENSG00000275696', 'score': 0.39}, {'connected_gene': 'LOC105374258', 'score': 0.1}]
chr3 GH03I186757 186757010 186758517 0.52 [{'connected_gene': 'KNG1', 'score': 11.43}, {'connected_gene': 'ENSG00000200418', 'score': 11.11}, {'connected_gene': 'SNORA63', 'score': 11.11}, {'connected_gene': 'EIF4A2', 'score': 11.11}, {'connected_gene': 'SNORA81', 'score': 11.11}, {'connected_gene': 'RFC4', 'score': 11.05}, {'connected_gene': 'FETUB', 'score': 10.61}, {'connected_gene': 'AHSG', 'score': 10.41}, {'connected_gene': 'ENSG00000231724', 'score': 10.29}, {'connected_gene': 'HRG', 'score': 10.21}, {'connected_gene': 'PSMD10P2', 'score': 0.77}, {'connected_gene': 'LOC105374259', 'score': 0.77}, {'connected_gene': 'LOC105374258', 'score': 0.37}]
chr3 GH03I186663 186663332 186665281 0.49 [{'connected_gene': 'KNG1', 'score': 10.22}, {'connected_gene': 'FETUB', 'score': 10.14}, {'connected_gene': 'AHSG', 'score': 10.13}, {'connected_gene': 'HRG', 'score': 0.77}, {'connected_gene': 'LOC100533663', 'score': 0.34}, {'connected_gene': 'LOC105374258', 'score': 0.14}]
chr3 GH03I186682 186682468 186683690 0.64 [{'connected_gene': 'KNG1', 'score': 11.12}, {'connected_gene': 'FETUB', 'score': 10.26}, {'connected_gene': 'LOC100533663', 'score': 0.77}, {'connected_gene': 'HRG', 'score': 0.34}, {'connected_gene': 'LOC105374258', 'score': 0.17}]
chr3 GH03I186716 186716752 186717726 1.3 [{'connected_gene': 'KNG1', 'score': 559.85}, {'connected_gene': 'ENSG00000226724', 'score': 0.37}, {'connected_gene': 'LOC105374258', 'score': 0.22}]
chr3 GH03I186760 186760076 186761770 0.73 [{'connected_gene': 'PSMD10P2', 'score': 550.77}, {'connected_gene': 'KNG1', 'score': 11.43}, {'connected_gene': 'EIF4A2', 'score': 11.14}, {'connected_gene': 'ENSG00000200418', 'score': 11.11}, {'connected_gene': 'SNORA63', 'score': 11.11}, {'connected_gene': 'SNORA81', 'score': 11.11}, {'connected_gene': 'RFC4', 'score': 11.05}, {'connected_gene': 'ENSG00000231724', 'score': 10.29}, {'connected_gene': 'HRG', 'score': 10.2}, {'connected_gene': 'GPS2P2', 'score': 7.55}, {'connected_gene': 'LOC105374259', 'score': 0.44}, {'connected_gene': 'RNU6-1105P', 'score': 0.39}, {'connected_gene': 'LOC105374258', 'score': 0.39}, {'connected_gene': 'GC03M186772', 'score': 0.39}]
chr3 GH03I186593 186593409 186595286 0.76 [{'connected_gene': 'FETUB', 'score': 10.4}, {'connected_gene': 'KNG1', 'score': 10.35}, {'connected_gene': 'RFC4', 'score': 9.93}, {'connected_gene': 'ENSG00000231724', 'score': 9.8}, {'connected_gene': 'HRG', 'score': 9.75}, {'connected_gene': 'DNAJB11', 'score': 4.76}, {'connected_gene': 'LOC100287402', 'score': 0.77}, {'connected_gene': 'ENSG00000283149', 'score': 0.39}, {'connected_gene': 'LOC105374258', 'score': 0.1}]
chr3 GH03I186597 186597972 186601328 0.93 [{'connected_gene': 'FETUB', 'score': 11.03}, {'connected_gene': 'KNG1', 'score': 10.32}, {'connected_gene': 'HRG', 'score': 10.25}, {'connected_gene': 'ENSG00000283390', 'score': 0.77}, {'connected_gene': 'AHSG', 'score': 0.39}, {'connected_gene': 'LOC105374258', 'score': 0.09}]
chr3 GH03I186669 186669161 186670460 0.69 [{'connected_gene': 'FETUB', 'score': 11.35}, {'connected_gene': 'KNG1', 'score': 11.2}, {'connected_gene': 'AHSG', 'score': 10.15}, {'connected_gene': 'HRG', 'score': 0.44}, {'connected_gene': 'LOC100533663', 'score': 0.37}, {'connected_gene': 'LOC105374258', 'score': 0.15}]
chr3 GH03I186342 186342157 186343692 0.86 [{'connected_gene': 'ETV5', 'score': 9.99}, {'connected_gene': 'ETV5-AS1', 'score': 9.27}, {'connected_gene': 'KNG1', 'score': 9.25}, {'connected_gene': 'DGKG', 'score': 0.37}, {'connected_gene': 'GC03P186167', 'score': 0.1}]
chr3 GH03I186588 186588296 186591531 1.07 [{'connected_gene': 'AHSG', 'score': 12.3}, {'connected_gene': 'SNORD2', 'score': 10.75}, {'connected_gene': 'EIF4A2', 'score': 10.75}, {'connected_gene': 'ENSG00000200418', 'score': 10.75}, {'connected_gene': 'SNORA63', 'score': 10.75}, {'connected_gene': 'SNORA81', 'score': 10.75}, {'connected_gene': 'RFC4', 'score': 10.4}, {'connected_gene': 'ENSG00000231724', 'score': 10.4}, {'connected_gene': 'FETUB', 'score': 10.38}, {'connected_gene': 'KNG1', 'score': 10.35}, {'connected_gene': 'HRG', 'score': 10.04}, {'connected_gene': 'DNAJB11', 'score': 5.51}, {'connected_gene': 'CRYGS', 'score': 5.07}, {'connected_gene': 'LOC100287402', 'score': 0.44}, {'connected_gene': 'ENSG00000283149', 'score': 0.44}, {'connected_gene': 'LOC105374258', 'score': 0.09}]
chr3 GH03I186653 186653883 186655003 0.49 [{'connected_gene': 'AHSG', 'score': 10.83}, {'connected_gene': 'KNG1', 'score': 10.39}, {'connected_gene': 'HRG', 'score': 0.44}, {'connected_gene': 'FETUB', 'score': 0.37}, {'connected_gene': 'LOC105374258', 'score': 0.13}]
chr3 GH03I186652 186652883 186653816 0.59 [{'connected_gene': 'AHSG', 'score': 10.83}, {'connected_gene': 'KNG1', 'score': 10.39}, {'connected_gene': 'HRG', 'score': 0.44}, {'connected_gene': 'FETUB', 'score': 0.37}, {'connected_gene': 'LOC105374258', 'score': 0.13}]
chr3 GH03I186327 186327075 186334918 0.68 [{'connected_gene': 'AHSG', 'score': 10.22}, {'connected_gene': 'KNG1', 'score': 9.09}, {'connected_gene': 'DGKG', 'score': 0.29}, {'connected_gene': 'GC03P186167', 'score': 0.1}]
chr3 GH03I186338 186338719 186341719 0.52 [{'connected_gene': 'AHSG', 'score': 10.22}, {'connected_gene': 'ETV5', 'score': 10.0}, {'connected_gene': 'KNG1', 'score': 9.34}, {'connected_gene': 'DGKG', 'score': 0.34}, {'connected_gene': 'GC03P186167', 'score': 0.09}]
chr3 GH03I186752 186752212 186756063 1.12 [{'connected_gene': 'LOC105374259', 'score': 550.77}, {'connected_gene': 'KNG1', 'score': 10.98}, {'connected_gene': 'EIF4A2', 'score': 10.98}, {'connected_gene': 'ENSG00000200418', 'score': 10.96}, {'connected_gene': 'SNORA63', 'score': 10.96}, {'connected_gene': 'SNORA81', 'score': 10.96}, {'connected_gene': 'RFC4', 'score': 10.69}, {'connected_gene': 'FETUB', 'score': 10.61}, {'connected_gene': 'ENSG00000231724', 'score': 10.17}, {'connected_gene': 'AHSG', 'score': 9.94}, {'connected_gene': 'HRG', 'score': 9.72}, {'connected_gene': 'PSMD10P2', 'score': 0.44}, {'connected_gene': 'LOC105374258', 'score': 0.37}]
chr3 GH03I186753 186752032 186752181 0.2 [{'connected_gene': 'LOC105374259', 'score': 550.77}, {'connected_gene': 'LOC105374258', 'score': 0.34}, {'connected_gene': 'KNG1', 'score': 0.29}]
chr3 GH03I186742 186742604 186747046 1.13 [{'connected_gene': 'LOC105374259', 'score': 0.44}, {'connected_gene': 'LOC105374258', 'score': 0.31}, {'connected_gene': 'KNG1', 'score': 0.31}]
chr3 GH03I186024 186024109 186024925 0.4 [{'connected_gene': 'ETV5-AS1', 'score': 10.68}, {'connected_gene': 'ETV5', 'score': 10.62}, {'connected_gene': 'KNG1', 'score': 9.95}, {'connected_gene': 'AHSG', 'score': 9.49}, {'connected_gene': 'HRG', 'score': 8.95}, {'connected_gene': 'DNAJB11', 'score': 4.8}, {'connected_gene': 'GC03P186008', 'score': 0.37}, {'connected_gene': 'ENSG00000277118', 'score': 0.23}]
chr3 GH03I186025 186025252 186025401 0.31 [{'connected_gene': 'ETV5-AS1', 'score': 10.68}, {'connected_gene': 'ETV5', 'score': 10.63}, {'connected_gene': 'KNG1', 'score': 9.95}, {'connected_gene': 'AHSG', 'score': 9.49}, {'connected_gene': 'HRG', 'score': 8.95}, {'connected_gene': 'GC03P186008', 'score': 0.37}, {'connected_gene': 'ENSG00000277118', 'score': 0.23}]
chr3 GH03I186021 186021401 186022462 0.54 [{'connected_gene': 'ETV5-AS1', 'score': 10.67}, {'connected_gene': 'ETV5', 'score': 10.62}, {'connected_gene': 'KNG1', 'score': 9.95}, {'connected_gene': 'AHSG', 'score': 9.49}, {'connected_gene': 'HRG', 'score': 8.95}, {'connected_gene': 'GC03P186008', 'score': 0.39}, {'connected_gene': 'ENSG00000277118', 'score': 0.23}]
chr3 GH03I186596 186596801 186597200 0.93 [{'connected_gene': 'LOC100287402', 'score': 550.77}, {'connected_gene': 'ENSG00000283390', 'score': 550.77}, {'connected_gene': 'FETUB', 'score': 10.41}, {'connected_gene': 'KNG1', 'score': 10.35}, {'connected_gene': 'HRG', 'score': 10.26}, {'connected_gene': 'RFC4', 'score': 9.93}, {'connected_gene': 'ENSG00000231724', 'score': 9.8}, {'connected_gene': 'AHSG', 'score': 0.37}, {'connected_gene': 'ENSG00000283149', 'score': 0.37}, {'connected_gene': 'LOC105374258', 'score': 0.1}]
chr3 GH03I186824 186824881 186828161 1.46 [{'connected_gene': 'ENSG00000231982', 'score': 558.23}, {'connected_gene': 'LINC02043', 'score': 550.77}, {'connected_gene': 'ENSG00000200418', 'score': 21.66}, {'connected_gene': 'RFC4', 'score': 18.03}, {'connected_gene': 'TRA2B', 'score': 17.84}, {'connected_gene': 'TBCCD1', 'score': 16.91}, {'connected_gene': 'SNORA63', 'score': 11.43}, {'connected_gene': 'SNORA81', 'score': 11.43}, {'connected_gene': 'EIF4A2', 'score': 11.42}, {'connected_gene': 'ADIPOQ-AS1', 'score': 10.47}, {'connected_gene': 'SNORA4', 'score': 10.21}, {'connected_gene': 'AHSG', 'score': 10.17}, {'connected_gene': 'KNG1', 'score': 9.79}, {'connected_gene': 'ADIPOQ', 'score': 7.56}]

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