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
ENST00000250498 [[23033804, 23034037], [23043958, 23044133], [23057852, 23058175]] [[23044002, 23044133], [23057852, 23058063]]
ENST00000489532 [[23033806, 23034037], [23035988, 23036065], [23043958, 23043989]] None
ENST00000535847 [[23033806, 23034037], [23043958, 23044133], [23057941, 23058126]] [[23044057, 23044133], [23057941, 23058063]]
ENST00000538631 [[23033807, 23034037], [23057852, 23058063]] [[23034011, 23034037], [23057852, 23058063]]
ENST00000543337 [[23033903, 23034037], [23043958, 23044133], [23057936, 23058128]] [[23044002, 23044133], [23057936, 23058063]]
NM_001344 [[23033806, 23034037], [23043958, 23044133], [23057852, 23058143]] [[23044002, 23044133], [23057852, 23058063]]
Promoter
Chrom Start End Description
chr14 23058063 23058144 CAGE_peak_1_at_DAD1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
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 GH14I022590 22590957 22592203 0.31 [{'connected_gene': 'ABHD4', 'score': 13.43}, {'connected_gene': 'OR6J1', 'score': 11.46}, {'connected_gene': 'OXA1L', 'score': 10.46}, {'connected_gene': 'DAD1', 'score': 6.43}, {'connected_gene': 'GC14P024211', 'score': 0.44}]
chr14 GH14I022596 22596912 22599903 2.21 [{'connected_gene': 'ABHD4', 'score': 576.16}, {'connected_gene': 'ENSG00000275552', 'score': 550.77}, {'connected_gene': 'GC14P024211', 'score': 550.77}, {'connected_gene': 'NGDN', 'score': 17.45}, {'connected_gene': 'PRMT5', 'score': 14.47}, {'connected_gene': 'SLC7A8', 'score': 14.09}, {'connected_gene': 'DAD1', 'score': 8.65}]
chr14 GH14I022629 22629766 22630921 0.2 [{'connected_gene': 'MMP14', 'score': 10.39}, {'connected_gene': 'DAD1', 'score': 6.32}, {'connected_gene': 'OR6E1P', 'score': 5.69}, {'connected_gene': 'OR6J1', 'score': 0.39}, {'connected_gene': 'ENSG00000275552', 'score': 0.29}]
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 GH14I023482 23481932 23484339 0.67 [{'connected_gene': 'NGDN', 'score': 6.25}, {'connected_gene': 'DAD1', 'score': 5.15}, {'connected_gene': 'ZFHX2-AS1', 'score': 0.31}, {'connected_gene': 'THTPA', 'score': 0.31}]
chr14 GH14I022571 22571824 22573513 1.03 [{'connected_gene': 'DAD1', 'score': 18.81}, {'connected_gene': 'OR6J1', 'score': 11.94}, {'connected_gene': 'ABHD4', 'score': 11.49}, {'connected_gene': 'MMP14', 'score': 10.86}, {'connected_gene': 'OXA1L', 'score': 10.71}, {'connected_gene': 'SLC7A7', 'score': 10.68}, {'connected_gene': 'MRPL52', 'score': 10.68}, {'connected_gene': 'PRMT5', 'score': 9.82}, {'connected_gene': 'C14orf93', 'score': 9.25}, {'connected_gene': 'LINC02332', 'score': 0.37}]
chr14 GH14I022579 22579955 22580515 0.46 [{'connected_gene': 'DAD1', 'score': 18.51}, {'connected_gene': 'OR6J1', 'score': 11.3}, {'connected_gene': 'OXA1L', 'score': 10.24}, {'connected_gene': 'LINC02332', 'score': 0.34}]
chr14 GH14I022582 22582858 22586231 0.38 [{'connected_gene': 'DAD1', 'score': 19.15}, {'connected_gene': 'OR6J1', 'score': 11.18}, {'connected_gene': 'MMP14', 'score': 10.81}, {'connected_gene': 'SLC7A7', 'score': 10.81}, {'connected_gene': 'MRPL52', 'score': 10.81}, {'connected_gene': 'LINC02332', 'score': 0.31}]
chr14 GH14I023180 23180074 23180600 0.4 [{'connected_gene': 'DAD1', 'score': 5.91}, {'connected_gene': 'CDH24', 'score': 4.49}, {'connected_gene': 'SLC7A8', 'score': 0.77}, {'connected_gene': 'RNU6-1138P', 'score': 0.34}]
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 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}]