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
ENST00000291232 [[42321044, 42321558], [42322104, 42322335], [42322641, 42322822]] [[42321370, 42321558], [42322104, 42322335], [42322641, 42322777]]
NM_052945 [[42321035, 42321558], [42322104, 42322335], [42322641, 42322821]] [[42321370, 42321558], [42322104, 42322335], [42322641, 42322777]]
Promoter
Chrom Start End Description
chr22 42322795 42322821 CAGE_peak_1_at_TNFRSF13C_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr22 GH22I041907 41907572 41911803 1.35 [{'connected_gene': 'SMDT1', 'score': 10.55}, {'connected_gene': 'CENPM', 'score': 6.57}, {'connected_gene': 'TNFRSF13C', 'score': 6.17}, {'connected_gene': 'CSDC2', 'score': 4.09}, {'connected_gene': 'SHISA8', 'score': 2.24}, {'connected_gene': 'TOB2', 'score': 1.29}, {'connected_gene': 'GC22P041968', 'score': 0.77}]
chr22 GH22I041890 41890848 41892494 0.2 [{'connected_gene': 'CENPM', 'score': 11.71}, {'connected_gene': 'TNFRSF13C', 'score': 11.52}, {'connected_gene': 'SNU13', 'score': 10.84}, {'connected_gene': 'C22orf46', 'score': 10.84}, {'connected_gene': 'RNU6ATAC22P', 'score': 10.51}, {'connected_gene': 'WBP2NL', 'score': 9.28}, {'connected_gene': 'SMDT1', 'score': 6.59}, {'connected_gene': 'ENSG00000227370', 'score': 5.64}, {'connected_gene': 'MIR33A', 'score': 0.44}, {'connected_gene': 'SREBF2', 'score': 0.22}, {'connected_gene': 'ENSG00000184068', 'score': 0.22}]
chr22 GH22I041931 41931335 41942006 2.13 [{'connected_gene': 'CENPM', 'score': 563.89}, {'connected_gene': 'GC22P041963', 'score': 550.77}, {'connected_gene': 'TNFRSF13C', 'score': 40.9}, {'connected_gene': 'MEI1', 'score': 15.34}, {'connected_gene': 'SMDT1', 'score': 15.11}, {'connected_gene': 'CYP2D6', 'score': 14.04}, {'connected_gene': 'SHISA8', 'score': 5.12}, {'connected_gene': 'CSDC2', 'score': 3.96}]
chr22 GH22I041897 41897802 41900194 0.63 [{'connected_gene': 'MIR33A', 'score': 550.77}, {'connected_gene': 'NDUFA6', 'score': 31.08}, {'connected_gene': 'TNFRSF13C', 'score': 17.62}, {'connected_gene': 'CYP2D6', 'score': 11.29}, {'connected_gene': 'CENPM', 'score': 11.23}, {'connected_gene': 'SNU13', 'score': 10.57}, {'connected_gene': 'C22orf46', 'score': 10.57}, {'connected_gene': 'SMDT1', 'score': 10.55}, {'connected_gene': 'RNU6ATAC22P', 'score': 10.37}, {'connected_gene': 'WBP2NL', 'score': 4.58}, {'connected_gene': 'ENSG00000184068', 'score': 0.21}, {'connected_gene': 'SREBF2', 'score': 0.2}]
chr22 GH22I041892 41892580 41895239 0.31 [{'connected_gene': 'MEI1', 'score': 12.68}, {'connected_gene': 'CENPM', 'score': 11.22}, {'connected_gene': 'SNU13', 'score': 10.57}, {'connected_gene': 'C22orf46', 'score': 10.57}, {'connected_gene': 'SMDT1', 'score': 10.54}, {'connected_gene': 'RNU6ATAC22P', 'score': 10.37}, {'connected_gene': 'TNFRSF13C', 'score': 6.11}, {'connected_gene': 'WBP2NL', 'score': 4.54}, {'connected_gene': 'MIR33A', 'score': 0.44}, {'connected_gene': 'ENSG00000184068', 'score': 0.22}, {'connected_gene': 'SREBF2', 'score': 0.21}]
chr22 GH22I041856 41856188 41863840 1.51 [{'connected_gene': 'MEI1', 'score': 25.9}, {'connected_gene': 'CYP2D6', 'score': 16.11}, {'connected_gene': 'CENPM', 'score': 13.66}, {'connected_gene': 'SREBF2', 'score': 12.89}, {'connected_gene': 'ENSG00000184068', 'score': 12.89}, {'connected_gene': 'TNFRSF13C', 'score': 11.69}, {'connected_gene': 'RNU6ATAC22P', 'score': 10.74}, {'connected_gene': 'NDUFA6', 'score': 5.56}, {'connected_gene': 'POLR3H', 'score': 4.23}, {'connected_gene': 'SMDT1', 'score': 4.14}, {'connected_gene': 'MIR33A', 'score': 0.26}]
chr22 GH22I041918 41918801 41929794 2.63 [{'connected_gene': 'TNFRSF13C', 'score': 566.18}, {'connected_gene': 'MIR378I', 'score': 550.77}, {'connected_gene': 'GC22M042615', 'score': 550.77}, {'connected_gene': 'NDUFA6', 'score': 31.31}, {'connected_gene': 'SMDT1', 'score': 18.11}, {'connected_gene': 'CYP2D8P', 'score': 7.97}, {'connected_gene': 'CSDC2', 'score': 5.22}, {'connected_gene': 'CENPM', 'score': 4.5}, {'connected_gene': 'SHISA8', 'score': 3.41}]
chr22 GH22I041884 41884859 41886453 0.51 [{'connected_gene': 'CYP2D6', 'score': 16.74}, {'connected_gene': 'SHISA8', 'score': 12.74}, {'connected_gene': 'SREBF2', 'score': 12.66}, {'connected_gene': 'TNFRSF13C', 'score': 11.4}, {'connected_gene': 'CENPM', 'score': 11.03}, {'connected_gene': 'RNU6ATAC22P', 'score': 10.6}, {'connected_gene': 'SMDT1', 'score': 5.61}, {'connected_gene': 'MIR33A', 'score': 0.37}, {'connected_gene': 'ENSG00000184068', 'score': 0.23}]
chr22 GH22I041883 41883419 41884746 0.79 [{'connected_gene': 'CYP2D6', 'score': 15.49}, {'connected_gene': 'SHISA8', 'score': 12.94}, {'connected_gene': 'SREBF2', 'score': 12.88}, {'connected_gene': 'TNFRSF13C', 'score': 11.41}, {'connected_gene': 'CENPM', 'score': 11.31}, {'connected_gene': 'RNU6ATAC22P', 'score': 10.99}, {'connected_gene': 'WBP2NL', 'score': 10.28}, {'connected_gene': 'SMDT1', 'score': 8.62}, {'connected_gene': 'MEI1', 'score': 6.64}, {'connected_gene': 'NDUFA6', 'score': 5.66}, {'connected_gene': 'MIR33A', 'score': 0.37}, {'connected_gene': 'ENSG00000184068', 'score': 0.25}]
chr22 GH22I041843 41843300 41845674 1.11 [{'connected_gene': 'CYP2D6', 'score': 14.93}, {'connected_gene': 'MEI1', 'score': 14.56}, {'connected_gene': 'TNFRSF13C', 'score': 11.89}, {'connected_gene': 'RNU6ATAC22P', 'score': 11.03}, {'connected_gene': 'CENPM', 'score': 10.96}, {'connected_gene': 'NDUFA6', 'score': 8.47}, {'connected_gene': 'CYP2D8P', 'score': 6.0}, {'connected_gene': 'ENSG00000184068', 'score': 0.44}, {'connected_gene': 'SREBF2', 'score': 0.39}, {'connected_gene': 'MIR33A', 'score': 0.22}]
chr22 GH22I041912 41912412 41913480 0.64 [{'connected_gene': 'CYP2D6', 'score': 19.31}, {'connected_gene': 'TNFRSF13C', 'score': 6.2}, {'connected_gene': 'SHISA8', 'score': 0.77}, {'connected_gene': 'GC22P041968', 'score': 0.44}]