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
ENST00000267396 [[23352373, 23352599], [23353882, 23354224], [23354474, 23354548], [23355232, 23355440], [23355822, 23356895]] [[23352496, 23352599], [23353882, 23354224], [23354474, 23354548], [23355232, 23355440], [23355822, 23356118]]
ENST00000536884 [[23352430, 23352599], [23353882, 23354224], [23355232, 23356052]] [[23352496, 23352599], [23353882, 23354224], [23355232, 23355453]]
NM_173527 [[23352431, 23352599], [23353882, 23354224], [23354474, 23354548], [23355232, 23355440], [23355822, 23356889]] [[23352496, 23352599], [23353882, 23354224], [23354474, 23354548], [23355232, 23355440], [23355822, 23356118]]
Promoter
Chrom Start End Description
chr14 23352410 23352440 CAGE_peak_1_at_REM2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I022779 22779913 22782173 0.83 [{'connected_gene': 'SLC7A7', 'score': 11.83}, {'connected_gene': 'MRPL52', 'score': 11.83}, {'connected_gene': 'MMP14', 'score': 11.8}, {'connected_gene': 'OR6J1', 'score': 10.86}, {'connected_gene': 'ENSG00000199716', 'score': 10.44}, {'connected_gene': 'LRP10', 'score': 10.44}, {'connected_gene': 'REM2', 'score': 10.42}, {'connected_gene': 'ENSG00000258458', 'score': 0.39}]
chr14 GH14I022783 22783601 22784400 0.63 [{'connected_gene': 'SLC7A7', 'score': 11.83}, {'connected_gene': 'MRPL52', 'score': 11.83}, {'connected_gene': 'MMP14', 'score': 11.81}, {'connected_gene': 'ACIN1', 'score': 11.39}, {'connected_gene': 'OR6J1', 'score': 10.86}, {'connected_gene': 'RBM23', 'score': 10.46}, {'connected_gene': 'ENSG00000199716', 'score': 10.45}, {'connected_gene': 'LRP10', 'score': 10.44}, {'connected_gene': 'REM2', 'score': 10.43}, {'connected_gene': 'PRMT5-AS1', 'score': 9.97}, {'connected_gene': 'ENSG00000258458', 'score': 0.37}]
chr14 GH14I022854 22854612 22855906 0.69 [{'connected_gene': 'SLC7A7', 'score': 12.92}, {'connected_gene': 'MRPL52', 'score': 12.92}, {'connected_gene': 'REM2', 'score': 12.05}, {'connected_gene': 'OXA1L', 'score': 11.65}, {'connected_gene': 'DAD1', 'score': 10.63}, {'connected_gene': 'OR6J1', 'score': 9.92}, {'connected_gene': 'HAUS4', 'score': 7.29}, {'connected_gene': 'GC14M022854', 'score': 0.77}, {'connected_gene': 'ENSG00000212335', 'score': 0.77}, {'connected_gene': 'GC14P024190', 'score': 0.39}]
chr14 GH14I022795 22795659 22799442 1.31 [{'connected_gene': 'CDH24', 'score': 14.46}, {'connected_gene': 'PABPN1', 'score': 13.53}, {'connected_gene': 'OXA1L', 'score': 12.25}, {'connected_gene': 'SLC7A7', 'score': 12.16}, {'connected_gene': 'MRPL52', 'score': 12.16}, {'connected_gene': 'MMP14', 'score': 12.14}, {'connected_gene': 'ENSG00000199716', 'score': 11.4}, {'connected_gene': 'LRP10', 'score': 11.4}, {'connected_gene': 'REM2', 'score': 11.37}, {'connected_gene': 'ENSG00000258458', 'score': 0.29}]
chr14 GH14I022621 22621848 22623007 0.66 [{'connected_gene': 'ABHD4', 'score': 12.06}, {'connected_gene': 'ENSG00000199716', 'score': 11.37}, {'connected_gene': 'LRP10', 'score': 11.37}, {'connected_gene': 'REM2', 'score': 11.37}, {'connected_gene': 'OXA1L', 'score': 10.57}, {'connected_gene': 'MMP14', 'score': 10.32}, {'connected_gene': 'OR6J1', 'score': 0.34}, {'connected_gene': 'ENSG00000275552', 'score': 0.34}]
chr14 GH14I022916 22916212 22916361 0.96 [{'connected_gene': 'RBM23', 'score': 0.77}, {'connected_gene': 'PRMT5-AS1', 'score': 0.77}, {'connected_gene': 'REM2', 'score': 0.29}]
chr14 GH14I022899 22899754 22900718 0.98 [{'connected_gene': 'HAUS4', 'score': 13.12}, {'connected_gene': 'LRP10', 'score': 12.78}, {'connected_gene': 'ENSG00000199716', 'score': 12.77}, {'connected_gene': 'MMP14', 'score': 11.41}, {'connected_gene': 'PRMT5', 'score': 11.36}, {'connected_gene': 'PSMB5', 'score': 10.04}, {'connected_gene': 'PSMB11', 'score': 10.03}, {'connected_gene': 'REM2', 'score': 0.37}, {'connected_gene': 'RBM23', 'score': 0.37}, {'connected_gene': 'PRMT5-AS1', 'score': 0.37}]
chr14 GH14I022903 22903168 22904064 0.97 [{'connected_gene': 'HAUS4', 'score': 53.73}, {'connected_gene': 'REM2', 'score': 12.81}, {'connected_gene': 'LRP10', 'score': 12.77}, {'connected_gene': 'ENSG00000199716', 'score': 12.75}, {'connected_gene': 'PRMT5', 'score': 11.84}, {'connected_gene': 'MMP14', 'score': 11.49}, {'connected_gene': 'SLC7A7', 'score': 11.48}, {'connected_gene': 'MRPL52', 'score': 11.48}, {'connected_gene': 'PSMB11', 'score': 10.91}, {'connected_gene': 'PSMB5', 'score': 10.91}, {'connected_gene': 'C14orf93', 'score': 9.97}, {'connected_gene': 'RBM23', 'score': 0.37}, {'connected_gene': 'PRMT5-AS1', 'score': 0.37}]
chr14 GH14I022689 22689099 22692101 1.28 [{'connected_gene': 'OXA1L', 'score': 15.92}, {'connected_gene': 'SLC7A7', 'score': 14.42}, {'connected_gene': 'ACIN1', 'score': 14.21}, {'connected_gene': 'RBM23', 'score': 11.27}, {'connected_gene': 'OR6J1', 'score': 11.02}, {'connected_gene': 'MRPL52', 'score': 10.67}, {'connected_gene': 'MMP14', 'score': 10.66}, {'connected_gene': 'ENSG00000199716', 'score': 10.34}, {'connected_gene': 'LRP10', 'score': 10.33}, {'connected_gene': 'REM2', 'score': 10.32}, {'connected_gene': 'GC14M022699', 'score': 0.77}]
chr14 GH14I022699 22699246 22700992 1.21 [{'connected_gene': 'OXA1L', 'score': 6.39}, {'connected_gene': 'OR6E1P', 'score': 5.54}, {'connected_gene': 'TRAV13-1', 'score': 5.35}, {'connected_gene': 'REM2', 'score': 2.01}, {'connected_gene': 'RPL26P2', 'score': 0.44}]
chr14 GH14I022504 22504826 22571549 2.32 [{'connected_gene': 'TRAJ6', 'score': 550.77}, {'connected_gene': 'TRAJ7', 'score': 550.77}, {'connected_gene': 'GC14P024183', 'score': 550.77}, {'connected_gene': 'GC14P024201', 'score': 550.77}, {'connected_gene': 'ABHD4', 'score': 21.9}, {'connected_gene': 'DAD1', 'score': 19.21}, {'connected_gene': 'C14orf93', 'score': 18.88}, {'connected_gene': 'MMP14', 'score': 17.08}, {'connected_gene': 'LOC105370399', 'score': 15.03}, {'connected_gene': 'TRAC', 'score': 13.94}, {'connected_gene': 'NGDN', 'score': 13.83}, {'connected_gene': 'OR6J1', 'score': 11.89}, {'connected_gene': 'SLC7A7', 'score': 11.89}, {'connected_gene': 'MRPL52', 'score': 11.89}, {'connected_gene': 'ACIN1', 'score': 11.36}, {'connected_gene': 'OXA1L', 'score': 11.15}, {'connected_gene': 'PABPN1', 'score': 11.11}, {'connected_gene': 'RBM23', 'score': 10.45}, {'connected_gene': 'CDH24', 'score': 10.41}, {'connected_gene': 'SLC22A17', 'score': 9.97}, {'connected_gene': 'PRMT5-AS1', 'score': 9.9}, {'connected_gene': 'PRMT5', 'score': 9.81}, {'connected_gene': 'PPP1R3E', 'score': 9.71}, {'connected_gene': 'CEBPE', 'score': 5.7}, {'connected_gene': 'LOC101926933', 'score': 5.05}, {'connected_gene': 'TRAV18', 'score': 4.67}, {'connected_gene': 'PSMB11', 'score': 3.16}, {'connected_gene': 'REM2', 'score': 2.14}, {'connected_gene': 'GC14P024189', 'score': 0.77}, {'connected_gene': 'TRAJ5', 'score': 0.77}, {'connected_gene': 'TRAJ9', 'score': 0.77}, {'connected_gene': 'GC14P024206', 'score': 0.77}, {'connected_gene': 'TRAJ8', 'score': 0.77}, {'connected_gene': 'TRAJ3', 'score': 0.77}, {'connected_gene': 'GC14P024202', 'score': 0.77}, {'connected_gene': 'GC14P024196', 'score': 0.77}, {'connected_gene': 'TRAJ10', 'score': 0.77}, {'connected_gene': 'TRAJ4', 'score': 0.77}, {'connected_gene': 'TRAJ12', 'score': 0.44}, {'connected_gene': 'TRAJ15', 'score': 0.44}, {'connected_gene': 'TRAJ16', 'score': 0.44}, {'connected_gene': 'TRAJ11', 'score': 0.44}, {'connected_gene': 'TRAJ1', 'score': 0.44}, {'connected_gene': 'TRAJ2', 'score': 0.44}, {'connected_gene': 'TRAJ14', 'score': 0.44}, {'connected_gene': 'TRAJ13', 'score': 0.44}, {'connected_gene': 'TRAJ19', 'score': 0.39}, {'connected_gene': 'TRAJ17', 'score': 0.39}, {'connected_gene': 'TRAJ21', 'score': 0.39}, {'connected_gene': 'TRAJ20', 'score': 0.39}, {'connected_gene': 'TRAJ18', 'score': 0.39}, {'connected_gene': 'TRAJ22', 'score': 0.37}, {'connected_gene': 'TRAJ24', 'score': 0.37}, {'connected_gene': 'TRAJ25', 'score': 0.37}, {'connected_gene': 'LINC02332', 'score': 0.37}, {'connected_gene': 'TRAJ23', 'score': 0.37}, {'connected_gene': 'TRAJ26', 'score': 0.37}, {'connected_gene': 'GC14P024184', 'score': 0.37}, {'connected_gene': 'GC14P024208', 'score': 0.37}, {'connected_gene': 'TRAJ29', 'score': 0.34}, {'connected_gene': 'TRAJ27', 'score': 0.34}, {'connected_gene': 'TRAJ28', 'score': 0.34}, {'connected_gene': 'TRAJ31', 'score': 0.31}, {'connected_gene': 'TRAJ32', 'score': 0.31}, {'connected_gene': 'TRAJ33', 'score': 0.31}, {'connected_gene': 'GC14P024188', 'score': 0.31}, {'connected_gene': 'GC14P024200', 'score': 0.31}, {'connected_gene': 'TRAJ30', 'score': 0.31}, {'connected_gene': 'TRAJ35', 'score': 0.29}, {'connected_gene': 'TRAJ34', 'score': 0.29}, {'connected_gene': 'TRAJ36', 'score': 0.29}, {'connected_gene': 'TRA', 'score': 0.02}]
chr14 GH14I022896 22896998 22899393 1.09 [{'connected_gene': 'NGDN', 'score': 14.43}, {'connected_gene': 'HAUS4', 'score': 13.55}, {'connected_gene': 'LRP10', 'score': 12.78}, {'connected_gene': 'ENSG00000199716', 'score': 12.77}, {'connected_gene': 'MMP14', 'score': 11.41}, {'connected_gene': 'PRMT5', 'score': 11.34}, {'connected_gene': 'OXA1L', 'score': 10.92}, {'connected_gene': 'AJUBA', 'score': 10.29}, {'connected_gene': 'PSMB5', 'score': 10.04}, {'connected_gene': 'PSMB11', 'score': 10.03}, {'connected_gene': 'C14orf119', 'score': 9.41}, {'connected_gene': 'REM2', 'score': 0.37}, {'connected_gene': 'RBM23', 'score': 0.34}, {'connected_gene': 'PRMT5-AS1', 'score': 0.34}]
chr14 GH14I023112 23112592 23116249 1.43 [{'connected_gene': 'ACIN1', 'score': 19.45}, {'connected_gene': 'LOC102724814', 'score': 12.97}, {'connected_gene': 'PRMT5', 'score': 12.31}, {'connected_gene': 'RBM23', 'score': 12.22}, {'connected_gene': 'HAUS4', 'score': 11.9}, {'connected_gene': 'C14orf93', 'score': 11.84}, {'connected_gene': 'NGDN', 'score': 11.09}, {'connected_gene': 'MMP14', 'score': 10.68}, {'connected_gene': 'AP1G2', 'score': 10.33}, {'connected_gene': 'CEBPE', 'score': 8.53}, {'connected_gene': 'C14orf119', 'score': 2.5}, {'connected_gene': 'CDH24', 'score': 1.8}, {'connected_gene': 'REM2', 'score': 1.69}, {'connected_gene': 'LMLN2', 'score': 0.44}]
chr14 GH14I022882 22882679 22884054 1.51 [{'connected_gene': 'REM2', 'score': 550.77}, {'connected_gene': 'MMP14', 'score': 11.47}, {'connected_gene': 'PRMT5', 'score': 11.17}, {'connected_gene': 'SLC7A7', 'score': 11.09}, {'connected_gene': 'MRPL52', 'score': 11.09}, {'connected_gene': 'ABHD4', 'score': 10.58}, {'connected_gene': 'HAUS4', 'score': 5.06}, {'connected_gene': 'PRMT5-AS1', 'score': 0.28}]
chr14 GH14I022908 22908601 22909000 0.46 [{'connected_gene': 'REM2', 'score': 11.82}, {'connected_gene': 'LRP10', 'score': 11.78}, {'connected_gene': 'ENSG00000199716', 'score': 11.77}, {'connected_gene': 'MMP14', 'score': 11.38}, {'connected_gene': 'PRMT5', 'score': 11.36}, {'connected_gene': 'AJUBA', 'score': 10.18}, {'connected_gene': 'C14orf93', 'score': 10.12}, {'connected_gene': 'CDH24', 'score': 10.09}, {'connected_gene': 'RBM23', 'score': 0.39}, {'connected_gene': 'PRMT5-AS1', 'score': 0.39}]
chr14 GH14I022587 22587492 22590655 2.5 [{'connected_gene': 'DAD1', 'score': 565.06}, {'connected_gene': 'ABHD4', 'score': 14.0}, {'connected_gene': 'OR6J1', 'score': 11.45}, {'connected_gene': 'SLC22A17', 'score': 11.36}, {'connected_gene': 'OXA1L', 'score': 10.46}, {'connected_gene': 'MMP14', 'score': 10.17}, {'connected_gene': 'REM2', 'score': 3.35}, {'connected_gene': 'LINC02332', 'score': 0.29}]
chr14 GH14I022884 22884708 22889000 1.42 [{'connected_gene': 'PRMT5', 'score': 16.81}, {'connected_gene': 'HAUS4', 'score': 13.56}, {'connected_gene': 'MMP14', 'score': 11.46}, {'connected_gene': 'SLC7A7', 'score': 11.17}, {'connected_gene': 'MRPL52', 'score': 11.17}, {'connected_gene': 'ABHD4', 'score': 10.58}, {'connected_gene': 'CDH24', 'score': 9.97}, {'connected_gene': 'RBM23', 'score': 5.46}, {'connected_gene': 'REM2', 'score': 0.77}, {'connected_gene': 'PRMT5-AS1', 'score': 0.29}]
chr14 GH14I022472 22472572 22504523 1.67 [{'connected_gene': 'GC14P024192', 'score': 550.77}, {'connected_gene': 'TRAJ50', 'score': 550.77}, {'connected_gene': 'TRAJ51', 'score': 550.77}, {'connected_gene': 'TRAJ49', 'score': 550.77}, {'connected_gene': 'TRAJ48', 'score': 550.77}, {'connected_gene': 'GC14P024203', 'score': 550.77}, {'connected_gene': 'PRMT5-AS1', 'score': 12.75}, {'connected_gene': 'ABHD4', 'score': 10.66}, {'connected_gene': 'MMP14', 'score': 10.51}, {'connected_gene': 'MRPL52', 'score': 10.51}, {'connected_gene': 'SLC7A7', 'score': 10.51}, {'connected_gene': 'OR6J1', 'score': 10.5}, {'connected_gene': 'TRAV18', 'score': 5.24}, {'connected_gene': 'TRAV8-5', 'score': 5.16}, {'connected_gene': 'REM2', 'score': 1.51}, {'connected_gene': 'RBM23', 'score': 1.45}, {'connected_gene': 'GC14P024195', 'score': 0.77}, {'connected_gene': 'TRAJ46', 'score': 0.77}, {'connected_gene': 'LOC105370401', 'score': 0.77}, {'connected_gene': 'GC14P024209', 'score': 0.77}, {'connected_gene': 'TRAJ47', 'score': 0.77}, {'connected_gene': 'TRAJ52', 'score': 0.77}, {'connected_gene': 'ENSG00000251002', 'score': 0.44}, {'connected_gene': 'TRAJ55', 'score': 0.44}, {'connected_gene': 'GC14P024199', 'score': 0.44}, {'connected_gene': 'TRAJ42', 'score': 0.44}, {'connected_gene': 'TRAJ57', 'score': 0.44}, {'connected_gene': 'GC14P024194', 'score': 0.44}, {'connected_gene': 'TRAJ54', 'score': 0.44}, {'connected_gene': 'TRAJ53', 'score': 0.44}, {'connected_gene': 'TRAJ43', 'score': 0.44}, {'connected_gene': 'GC14P024182', 'score': 0.44}, {'connected_gene': 'TRAJ56', 'score': 0.44}, {'connected_gene': 'TRAJ45', 'score': 0.44}, {'connected_gene': 'TRAJ44', 'score': 0.44}, {'connected_gene': 'GC14P024207', 'score': 0.44}, {'connected_gene': 'TRAJ41', 'score': 0.44}, {'connected_gene': 'TRAJ60', 'score': 0.39}, {'connected_gene': 'TRAJ40', 'score': 0.39}, {'connected_gene': 'TRAJ58', 'score': 0.39}, {'connected_gene': 'GC14P024210', 'score': 0.39}, {'connected_gene': 'TRAJ38', 'score': 0.39}, {'connected_gene': 'TRAJ59', 'score': 0.39}, {'connected_gene': 'GC14P024191', 'score': 0.39}, {'connected_gene': 'GC14P024181', 'score': 0.39}, {'connected_gene': 'GC14P024197', 'score': 0.39}, {'connected_gene': 'TRAJ61', 'score': 0.39}, {'connected_gene': 'TRAJ39', 'score': 0.39}, {'connected_gene': 'TRAJ37', 'score': 0.37}, {'connected_gene': 'TRA', 'score': 0.03}]
chr14 GH14I022844 22844318 22854244 2.09 [{'connected_gene': 'PIR54043', 'score': 550.77}, {'connected_gene': 'NGDN', 'score': 14.43}, {'connected_gene': 'LRP10', 'score': 12.08}, {'connected_gene': 'REM2', 'score': 12.03}, {'connected_gene': 'OXA1L', 'score': 11.66}, {'connected_gene': 'PABPN1', 'score': 11.41}, {'connected_gene': 'RBM23', 'score': 10.81}, {'connected_gene': 'DAD1', 'score': 10.63}, {'connected_gene': 'PRMT5-AS1', 'score': 10.17}, {'connected_gene': 'THTPA', 'score': 9.72}, {'connected_gene': 'HAUS4', 'score': 8.7}, {'connected_gene': 'SLC7A7', 'score': 7.32}, {'connected_gene': 'C14orf119', 'score': 1.64}, {'connected_gene': 'ACIN1', 'score': 1.43}, {'connected_gene': 'GC14M022854', 'score': 0.77}, {'connected_gene': 'ENSG00000212335', 'score': 0.77}, {'connected_gene': 'MMP14', 'score': 0.39}]

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