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
ENST00000206513 [[23586512, 23587031], [23587790, 23588825]] [[23586695, 23587031], [23587790, 23588300]]
NM_001805 [[23586514, 23587031], [23587790, 23588820]] [[23586695, 23587031], [23587790, 23588300]]
Promoter
Chrom Start End Description
chr14 23588242 23588262 CAGE_peak_1_at_CEBPE_5end
chr14 23588458 23588473 CAGE_peak_2_at_CEBPE_5end
chr14 23588816 23588836 CAGE_peak_4_at_CEBPE_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I022997 22997285 22997701 0.86 [{'connected_gene': 'CDH24', 'score': 15.06}, {'connected_gene': 'PSMB5', 'score': 11.95}, {'connected_gene': 'PSMB11', 'score': 11.94}, {'connected_gene': 'PRMT5', 'score': 10.87}, {'connected_gene': 'C14orf119', 'score': 9.8}, {'connected_gene': 'ACIN1', 'score': 9.72}, {'connected_gene': 'CEBPE', 'score': 8.95}, {'connected_gene': 'C14orf93', 'score': 1.78}, {'connected_gene': 'ENSG00000280129', 'score': 0.44}, {'connected_gene': 'GC14P024213', 'score': 0.39}, {'connected_gene': 'ENSG00000258457', 'score': 0.39}]
chr14 GH14I022995 22995757 22996363 0.38 [{'connected_gene': 'CDH24', 'score': 12.09}, {'connected_gene': 'PSMB5', 'score': 12.01}, {'connected_gene': 'PSMB11', 'score': 11.98}, {'connected_gene': 'PRMT5', 'score': 10.91}, {'connected_gene': 'ACIN1', 'score': 10.33}, {'connected_gene': 'C14orf119', 'score': 10.14}, {'connected_gene': 'CEBPE', 'score': 9.92}, {'connected_gene': 'GC14P024213', 'score': 0.44}, {'connected_gene': 'ENSG00000280129', 'score': 0.39}, {'connected_gene': 'C14orf93', 'score': 0.39}, {'connected_gene': 'ENSG00000258457', 'score': 0.39}]
chr14 GH14I023077 23077259 23081030 1.32 [{'connected_gene': 'CDH24', 'score': 11.26}, {'connected_gene': 'C14orf119', 'score': 10.7}, {'connected_gene': 'CEBPE', 'score': 10.64}, {'connected_gene': 'C14orf93', 'score': 10.52}, {'connected_gene': 'PRMT5', 'score': 10.32}, {'connected_gene': 'RNU6-1138P', 'score': 10.18}, {'connected_gene': 'SLC7A8', 'score': 10.15}, {'connected_gene': 'RNF212B', 'score': 9.63}, {'connected_gene': 'ACIN1', 'score': 0.37}]
chr14 GH14I023250 23250712 23253329 0.54 [{'connected_gene': 'BCL2L2', 'score': 11.28}, {'connected_gene': 'HOMEZ', 'score': 11.28}, {'connected_gene': 'PPP1R3E', 'score': 11.26}, {'connected_gene': 'CMTM5', 'score': 10.91}, {'connected_gene': 'CEBPE', 'score': 10.69}, {'connected_gene': 'IL25', 'score': 10.66}, {'connected_gene': 'RNF212B', 'score': 10.59}, {'connected_gene': 'SLC7A8', 'score': 10.59}, {'connected_gene': 'SLC22A17', 'score': 10.55}, {'connected_gene': 'MYH6', 'score': 10.45}, {'connected_gene': 'EFS', 'score': 10.39}, {'connected_gene': 'MIR208B', 'score': 10.2}, {'connected_gene': 'RNU6-1138P', 'score': 10.08}, {'connected_gene': 'MYH7', 'score': 9.63}, {'connected_gene': 'RNU6-1046P', 'score': 0.44}, {'connected_gene': 'RPL39P2', 'score': 0.34}]
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 GH14I023152 23152640 23156027 1.87 [{'connected_gene': 'SLC7A8', 'score': 550.31}, {'connected_gene': 'ACIN1', 'score': 27.61}, {'connected_gene': 'RNF31', 'score': 22.07}, {'connected_gene': 'LOC102724814', 'score': 12.97}, {'connected_gene': 'PRMT5', 'score': 12.3}, {'connected_gene': 'RBM23', 'score': 12.21}, {'connected_gene': 'HAUS4', 'score': 11.87}, {'connected_gene': 'C14orf93', 'score': 11.8}, {'connected_gene': 'NGDN', 'score': 11.09}, {'connected_gene': 'MMP14', 'score': 10.67}, {'connected_gene': 'ENSG00000259321', 'score': 10.09}, {'connected_gene': 'RNU6-1138P', 'score': 0.77}, {'connected_gene': 'CEBPE', 'score': 0.29}]
chr14 GH14I023128 23128732 23130608 0.82 [{'connected_gene': 'SLC7A8', 'score': 11.58}, {'connected_gene': 'RNF212B', 'score': 11.57}, {'connected_gene': 'ACIN1', 'score': 10.9}, {'connected_gene': 'RNU6-1138P', 'score': 10.89}, {'connected_gene': 'C14orf119', 'score': 9.88}, {'connected_gene': 'CEBPE', 'score': 0.44}]
chr14 GH14I023137 23137313 23139312 0.51 [{'connected_gene': 'SLC7A8', 'score': 17.84}, {'connected_gene': 'RNF212B', 'score': 11.43}, {'connected_gene': 'ACIN1', 'score': 10.99}, {'connected_gene': 'CEBPE', 'score': 0.37}, {'connected_gene': 'RNU6-1138P', 'score': 0.37}]
chr14 GH14I023140 23140591 23143520 1.16 [{'connected_gene': 'SLC7A8', 'score': 14.37}, {'connected_gene': 'RNF212B', 'score': 11.63}, {'connected_gene': 'CEBPE', 'score': 11.56}, {'connected_gene': 'ACIN1', 'score': 10.97}, {'connected_gene': 'SLC22A17', 'score': 9.93}, {'connected_gene': 'C14orf93', 'score': 9.44}, {'connected_gene': 'CMTM5', 'score': 9.4}, {'connected_gene': 'IL25', 'score': 9.4}, {'connected_gene': 'DHRS4-AS1', 'score': 7.46}, {'connected_gene': 'RNU6-1138P', 'score': 0.39}]
chr14 GH14I023148 23148491 23149330 0.51 [{'connected_gene': 'SLC7A8', 'score': 11.66}, {'connected_gene': 'RNF212B', 'score': 11.64}, {'connected_gene': 'CEBPE', 'score': 11.53}, {'connected_gene': 'ACIN1', 'score': 10.51}, {'connected_gene': 'SLC22A17', 'score': 10.13}, {'connected_gene': 'CMTM5', 'score': 9.38}, {'connected_gene': 'IL25', 'score': 9.38}, {'connected_gene': 'C14orf93', 'score': 8.87}, {'connected_gene': 'RNU6-1138P', 'score': 0.44}]
chr14 GH14I023145 23145149 23147953 1.63 [{'connected_gene': 'ACIN1', 'score': 34.05}, {'connected_gene': 'C14orf93', 'score': 25.15}, {'connected_gene': 'ENSG00000259321', 'score': 22.37}, {'connected_gene': 'RBM23', 'score': 16.08}, {'connected_gene': 'LOC102724814', 'score': 15.92}, {'connected_gene': 'NGDN', 'score': 12.81}, {'connected_gene': 'RNF212B', 'score': 11.64}, {'connected_gene': 'SLC7A8', 'score': 11.64}, {'connected_gene': 'HAUS4', 'score': 11.64}, {'connected_gene': 'CEBPE', 'score': 11.53}, {'connected_gene': 'PRMT5', 'score': 10.38}, {'connected_gene': 'AP1G2', 'score': 10.33}, {'connected_gene': 'SLC22A17', 'score': 9.93}, {'connected_gene': 'DHRS4', 'score': 6.0}, {'connected_gene': 'RNU6-1138P', 'score': 0.44}]
chr14 GH14I023067 23067520 23073404 2.47 [{'connected_gene': 'ACIN1', 'score': 601.81}, {'connected_gene': 'C14orf93', 'score': 35.14}, {'connected_gene': 'NGDN', 'score': 26.88}, {'connected_gene': 'LOC102724814', 'score': 25.79}, {'connected_gene': 'RBM23', 'score': 25.66}, {'connected_gene': 'HAUS4', 'score': 22.09}, {'connected_gene': 'PRMT5', 'score': 18.52}, {'connected_gene': 'PSMB11', 'score': 12.28}, {'connected_gene': 'PSMB5', 'score': 12.24}, {'connected_gene': 'C14orf119', 'score': 12.02}, {'connected_gene': 'CEBPE', 'score': 10.9}, {'connected_gene': 'AJUBA', 'score': 10.77}, {'connected_gene': 'RNF212B', 'score': 10.31}, {'connected_gene': 'SLC7A8', 'score': 10.31}, {'connected_gene': 'RNU6-1138P', 'score': 9.84}, {'connected_gene': 'CDH24', 'score': 0.39}]
chr14 GH14I022996 22996886 22997130 1.09 [{'connected_gene': 'ACIN1', 'score': 36.8}, {'connected_gene': 'NGDN', 'score': 26.21}, {'connected_gene': 'CDH24', 'score': 25.02}, {'connected_gene': 'SLC22A17', 'score': 21.64}, {'connected_gene': 'PABPN1', 'score': 21.18}, {'connected_gene': 'JPH4', 'score': 12.72}, {'connected_gene': 'RBM23', 'score': 12.04}, {'connected_gene': 'PSMB5', 'score': 11.95}, {'connected_gene': 'PSMB11', 'score': 11.92}, {'connected_gene': 'PRMT5', 'score': 10.87}, {'connected_gene': 'BCL2L2', 'score': 10.02}, {'connected_gene': 'C14orf119', 'score': 9.8}, {'connected_gene': 'CEBPE', 'score': 8.95}, {'connected_gene': 'GC14P024213', 'score': 0.39}, {'connected_gene': 'C14orf93', 'score': 0.39}, {'connected_gene': 'ENSG00000280129', 'score': 0.39}, {'connected_gene': 'ENSG00000258457', 'score': 0.39}]
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 GH14I023075 23075086 23077161 0.85 [{'connected_gene': 'PSMB11', 'score': 11.14}, {'connected_gene': 'PSMB5', 'score': 11.11}, {'connected_gene': 'CEBPE', 'score': 10.92}, {'connected_gene': 'C14orf93', 'score': 10.44}, {'connected_gene': 'PRMT5', 'score': 10.32}, {'connected_gene': 'RNF212B', 'score': 10.31}, {'connected_gene': 'SLC7A8', 'score': 10.31}, {'connected_gene': 'RNU6-1138P', 'score': 9.95}, {'connected_gene': 'C14orf119', 'score': 0.37}, {'connected_gene': 'ACIN1', 'score': 0.37}, {'connected_gene': 'CDH24', 'score': 0.37}]
chr14 GH14I023117 23117601 23122407 1.74 [{'connected_gene': 'CEBPE', 'score': 550.77}, {'connected_gene': 'C14orf119', 'score': 4.81}, {'connected_gene': 'RNU6-1138P', 'score': 0.28}]
chr14 GH14I023195 23195852 23195861 0.56 [{'connected_gene': 'CEBPE', 'score': 11.43}, {'connected_gene': 'RNU6-1138P', 'score': 11.22}, {'connected_gene': 'ACIN1', 'score': 9.97}, {'connected_gene': 'SLC22A17', 'score': 9.61}, {'connected_gene': 'MYH6', 'score': 9.57}, {'connected_gene': 'C14orf93', 'score': 8.92}, {'connected_gene': 'RNF212B', 'score': 0.39}, {'connected_gene': 'LOC105370406', 'score': 0.37}]
chr14 GH14I023197 23197352 23198030 0.31 [{'connected_gene': 'CEBPE', 'score': 11.43}, {'connected_gene': 'RNU6-1138P', 'score': 11.21}, {'connected_gene': 'ACIN1', 'score': 9.97}, {'connected_gene': 'SLC22A17', 'score': 9.61}, {'connected_gene': 'MYH6', 'score': 9.57}, {'connected_gene': 'C14orf93', 'score': 8.92}, {'connected_gene': 'RNF212B', 'score': 0.39}, {'connected_gene': 'LOC105370406', 'score': 0.37}]
chr14 GH14I023123 23123274 23124260 0.82 [{'connected_gene': 'CEBPE', 'score': 0.77}, {'connected_gene': 'RNU6-1138P', 'score': 0.29}]
chr14 GH14I023118 23117201 23117400 0.31 [{'connected_gene': 'CEBPE', 'score': 0.77}, {'connected_gene': 'LMLN2', 'score': 0.39}]
chr14 GH14I023149 23149979 23151240 0.57 [{'connected_gene': 'RNF212B', 'score': 11.43}, {'connected_gene': 'SLC7A8', 'score': 11.43}, {'connected_gene': 'CEBPE', 'score': 11.39}, {'connected_gene': 'ACIN1', 'score': 10.23}, {'connected_gene': 'RNU6-1138P', 'score': 0.44}]
chr14 GH14I023207 23206932 23208374 0.46 [{'connected_gene': 'RNF212B', 'score': 12.39}, {'connected_gene': 'SLC7A8', 'score': 12.39}, {'connected_gene': 'CEBPE', 'score': 11.08}, {'connected_gene': 'MIR208B', 'score': 10.13}, {'connected_gene': 'SLC22A17', 'score': 10.1}, {'connected_gene': 'ACIN1', 'score': 10.05}, {'connected_gene': 'MYH6', 'score': 9.79}, {'connected_gene': 'BCL2L2', 'score': 9.54}, {'connected_gene': 'HOMEZ', 'score': 9.54}, {'connected_gene': 'PPP1R3E', 'score': 9.54}, {'connected_gene': 'DHRS4', 'score': 4.91}, {'connected_gene': 'DHRS4L2', 'score': 4.85}, {'connected_gene': 'LOC105370406', 'score': 0.44}]
chr14 GH14I023206 23206392 23206641 0.2 [{'connected_gene': 'RNF212B', 'score': 12.39}, {'connected_gene': 'SLC7A8', 'score': 12.39}, {'connected_gene': 'CEBPE', 'score': 11.08}, {'connected_gene': 'MIR208B', 'score': 10.13}, {'connected_gene': 'SLC22A17', 'score': 10.1}, {'connected_gene': 'ACIN1', 'score': 10.05}, {'connected_gene': 'MYH6', 'score': 9.79}, {'connected_gene': 'BCL2L2', 'score': 9.54}, {'connected_gene': 'HOMEZ', 'score': 9.54}, {'connected_gene': 'PPP1R3E', 'score': 9.54}, {'connected_gene': 'LOC105370406', 'score': 0.44}]
chr14 GH14I023105 23105752 23106767 1.03 [{'connected_gene': 'LMLN2', 'score': 550.77}, {'connected_gene': 'C14orf119', 'score': 5.85}, {'connected_gene': 'CEBPE', 'score': 0.39}]

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