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
ENST00000314117 [[37592421, 37592839], [37633006, 37633145], [37636508, 37636745], [37640068, 37640126], [37648989, 37649061], [37650897, 37651122], [37687821, 37687998]] [[37633009, 37633145], [37636508, 37636745], [37640068, 37640126], [37648989, 37649061], [37650897, 37651122], [37687821, 37687909]]
ENST00000454158 [[37614522, 37614964], [37633006, 37633145], [37636508, 37636745], [37640068, 37640126], [37648989, 37649061], [37650897, 37651122], [37687821, 37687998]] [[37633009, 37633145], [37636508, 37636745], [37640068, 37640126], [37648989, 37649061], [37650897, 37651122], [37687821, 37687909]]
ENST00000512114 [[37636508, 37636745], [37640068, 37640126], [37648989, 37649061], [37650897, 37651122], [37666824, 37667003]] [[37636508, 37636745], [37640068, 37640126], [37648989, 37649061], [37650897, 37651122], [37666824, 37666975]]
NM_001085399 [[37592421, 37592839], [37633006, 37633145], [37636508, 37636745], [37640068, 37640126], [37648989, 37649061], [37650897, 37651122], [37687821, 37687999]] [[37633009, 37633145], [37636508, 37636745], [37640068, 37640126], [37648989, 37649061], [37650897, 37651122], [37687821, 37687909]]
NM_001085400 [[37612255, 37614964], [37633006, 37633145], [37636508, 37636745], [37640068, 37640126], [37648989, 37649061], [37650897, 37651122], [37687821, 37687999]] [[37633009, 37633145], [37636508, 37636745], [37640068, 37640126], [37648989, 37649061], [37650897, 37651122], [37687821, 37687909]]
Promoter
Chrom Start End Description
chr4 37687991 37688005 CAGE_peak_1_at_RELL1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I037728 37728479 37730729 1.24 [{'connected_gene': 'RELL1', 'score': 11.34}, {'connected_gene': 'C4orf19', 'score': 10.38}, {'connected_gene': 'LOC105374404', 'score': 0.39}, {'connected_gene': 'LOC105374406', 'score': 0.29}]
chr4 GH04I037604 37604600 37605000 0.46 [{'connected_gene': 'RELL1', 'score': 10.72}, {'connected_gene': 'ENSG00000248936', 'score': 0.37}, {'connected_gene': 'C4orf19', 'score': 0.1}]
chr4 GH04I037600 37600904 37602664 0.63 [{'connected_gene': 'RELL1', 'score': 10.72}, {'connected_gene': 'ENSG00000248936', 'score': 7.15}, {'connected_gene': 'C4orf19', 'score': 0.11}]
chr4 GH04I037602 37602969 37603428 0.96 [{'connected_gene': 'RELL1', 'score': 10.72}, {'connected_gene': 'ENSG00000248936', 'score': 5.38}, {'connected_gene': 'C4orf19', 'score': 0.11}]
chr4 GH04I037779 37779688 37781625 0.74 [{'connected_gene': 'RELL1', 'score': 11.26}, {'connected_gene': 'ENSG00000248936', 'score': 11.02}, {'connected_gene': 'PGM2', 'score': 10.52}, {'connected_gene': 'C4orf19', 'score': 10.05}, {'connected_gene': 'LOC105374406', 'score': 0.37}, {'connected_gene': 'GC04P037820', 'score': 0.28}]
chr4 GH04I037732 37732302 37734155 1.06 [{'connected_gene': 'RELL1', 'score': 11.38}, {'connected_gene': 'ENSG00000248936', 'score': 10.59}, {'connected_gene': 'PGM2', 'score': 10.2}, {'connected_gene': 'LOC105374404', 'score': 0.37}, {'connected_gene': 'LOC105374406', 'score': 0.31}]
chr4 GH04I037753 37753601 37755599 0.84 [{'connected_gene': 'RELL1', 'score': 15.57}, {'connected_gene': 'TBC1D1', 'score': 10.79}, {'connected_gene': 'PGM2', 'score': 1.51}, {'connected_gene': 'LOC105374406', 'score': 0.44}, {'connected_gene': 'LOC105374404', 'score': 0.28}]
chr4 GH04I037756 37756802 37759599 1.12 [{'connected_gene': 'RELL1', 'score': 14.07}, {'connected_gene': 'TBC1D1', 'score': 3.67}, {'connected_gene': 'LOC105374406', 'score': 0.77}, {'connected_gene': 'LOC105374404', 'score': 0.26}]
chr4 GH04I037684 37684310 37687676 2.01 [{'connected_gene': 'RELL1', 'score': 556.11}, {'connected_gene': 'TBC1D1', 'score': 9.46}, {'connected_gene': 'ENSG00000248936', 'score': 0.15}]
chr4 GH04I037747 37747821 37750029 0.74 [{'connected_gene': 'RELL1', 'score': 15.72}, {'connected_gene': 'LOC105374406', 'score': 0.39}, {'connected_gene': 'LOC105374404', 'score': 0.29}]
chr4 GH04I037771 37771899 37772048 0.2 [{'connected_gene': 'RELL1', 'score': 11.02}, {'connected_gene': 'LOC105374406', 'score': 0.39}, {'connected_gene': 'GC04P037820', 'score': 0.25}]
chr4 GH04I037721 37721877 37722658 0.54 [{'connected_gene': 'RELL1', 'score': 11.99}, {'connected_gene': 'LOC105374404', 'score': 0.44}, {'connected_gene': 'LOC105374406', 'score': 0.28}]
chr4 GH04I037642 37642559 37642708 0.31 [{'connected_gene': 'RELL1', 'score': 0.26}, {'connected_gene': 'ENSG00000248936', 'score': 0.23}]
chr4 GH04I037661 37661109 37668126 1.61 [{'connected_gene': 'RELL1', 'score': 12.34}, {'connected_gene': 'ENSG00000248936', 'score': 0.18}]
chr4 GH04I037673 37673601 37676728 0.95 [{'connected_gene': 'RELL1', 'score': 0.39}, {'connected_gene': 'ENSG00000248936', 'score': 0.17}]
chr4 GH04I037582 37582720 37585127 0.88 [{'connected_gene': 'C4orf19', 'score': 567.07}, {'connected_gene': 'RELL1', 'score': 6.73}, {'connected_gene': 'ENSG00000248936', 'score': 0.77}]
chr4 GH04I037596 37596136 37597876 0.38 [{'connected_gene': 'C4orf19', 'score': 10.12}, {'connected_gene': 'ENSG00000248936', 'score': 6.99}, {'connected_gene': 'RELL1', 'score': 0.17}]
chr4 GH04I037797 37797401 37797800 0.49 [{'connected_gene': 'PGM2', 'score': 17.94}, {'connected_gene': 'TBC1D1', 'score': 11.02}, {'connected_gene': 'RELL1', 'score': 10.5}, {'connected_gene': 'ENSG00000248936', 'score': 10.43}, {'connected_gene': 'GC04P037820', 'score': 0.34}, {'connected_gene': 'LOC105374406', 'score': 0.28}]
chr4 GH04I037802 37802179 37802328 0.76 [{'connected_gene': 'PGM2', 'score': 83.05}, {'connected_gene': 'TBC1D1', 'score': 11.16}, {'connected_gene': 'ENSG00000248936', 'score': 10.64}, {'connected_gene': 'RELL1', 'score': 10.01}, {'connected_gene': 'GC04P037820', 'score': 0.37}, {'connected_gene': 'LOC105374406', 'score': 0.26}]
chr4 GH04I037678 37678401 37679000 0.31 [{'connected_gene': 'PGM2', 'score': 10.59}, {'connected_gene': 'TBC1D1', 'score': 9.35}, {'connected_gene': 'RELL1', 'score': 0.44}, {'connected_gene': 'ENSG00000248936', 'score': 0.17}]
chr4 GH04I037681 37681769 37683760 1.04 [{'connected_gene': 'PGM2', 'score': 10.59}, {'connected_gene': 'TBC1D1', 'score': 9.46}, {'connected_gene': 'RELL1', 'score': 0.77}, {'connected_gene': 'ENSG00000248936', 'score': 0.16}]
chr4 GH04I037889 37889851 37893829 2.35 [{'connected_gene': 'TBC1D1', 'score': 558.38}, {'connected_gene': 'RELL1', 'score': 1.87}, {'connected_gene': 'LOC105374407', 'score': 0.28}]
chr4 GH04I037692 37692997 37694226 0.49 [{'connected_gene': 'TBC1D1', 'score': 10.29}, {'connected_gene': 'RELL1', 'score': 5.56}, {'connected_gene': 'ENSG00000207075', 'score': 0.44}, {'connected_gene': 'GC04M037699', 'score': 0.44}]
chr4 GH04I037981 37981134 37983866 0.83 [{'connected_gene': 'TBC1D1', 'score': 34.63}, {'connected_gene': 'PGM2', 'score': 11.08}, {'connected_gene': 'RELL1', 'score': 10.18}, {'connected_gene': 'GC04P037993', 'score': 0.39}, {'connected_gene': 'PTTG2', 'score': 0.34}]
chr4 GH04I037760 37760001 37760400 0.2 [{'connected_gene': 'LOC105374406', 'score': 550.77}, {'connected_gene': 'RELL1', 'score': 12.32}, {'connected_gene': 'LOC105374404', 'score': 0.25}]
chr4 GH04I037761 37761896 37763243 0.88 [{'connected_gene': 'LOC105374406', 'score': 550.77}, {'connected_gene': 'RELL1', 'score': 12.31}, {'connected_gene': 'GC04P037820', 'score': 0.22}]
chr4 GH04I037715 37715543 37716936 0.82 [{'connected_gene': 'LOC105374404', 'score': 550.77}, {'connected_gene': 'RELL1', 'score': 12.08}, {'connected_gene': 'LOC105374406', 'score': 0.26}]
chr4 GH04I037629 37629079 37629228 0.78 [{'connected_gene': 'ENSG00000248936', 'score': 11.06}, {'connected_gene': 'RELL1', 'score': 10.83}, {'connected_gene': 'TBC1D1', 'score': 9.63}]
chr4 GH04I037699 37699326 37699504 0.2 [{'connected_gene': 'ENSG00000207075', 'score': 550.77}, {'connected_gene': 'GC04M037699', 'score': 550.77}, {'connected_gene': 'RELL1', 'score': 0.39}]
chr4 GH04I037647 37647350 37649365 1.36 [{'connected_gene': 'ENSG00000248936', 'score': 10.47}, {'connected_gene': 'RELL1', 'score': 0.28}]
chr4 GH04I037632 37632499 37632628 0.57 [{'connected_gene': 'ENSG00000248936', 'score': 0.26}, {'connected_gene': 'RELL1', 'score': 0.23}]
chr4 GH04I037645 37645310 37647293 0.59 [{'connected_gene': 'ENSG00000248936', 'score': 10.51}, {'connected_gene': 'RELL1', 'score': 0.26}]

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