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
ENST00000321367 [[30389453, 30389841], [30389930, 30390021], [30390338, 30390504], [30390755, 30390855], [30391252, 30391354], [30392447, 30392565], [30392659, 30392794], [30393080, 30393204], [30393413, 30393500], [30393595, 30393686], [30393845, 30393919], [30394055, 30394171]] [[30389754, 30389841], [30389930, 30390021], [30390338, 30390504], [30390755, 30390855], [30391252, 30391354], [30392447, 30392565], [30392659, 30392794], [30393080, 30393204], [30393413, 30393500], [30393595, 30393686], [30393845, 30393919], [30394055, 30394125]]
ENST00000571393 [[30389456, 30389841], [30389930, 30390021], [30390338, 30390504], [30390755, 30390855], [30391252, 30391354], [30392447, 30392565], [30392659, 30392794], [30393080, 30393204], [30393413, 30393500], [30393595, 30393686], [30393845, 30393919], [30394055, 30394171]] [[30389754, 30389841], [30389930, 30390021], [30390338, 30390504], [30390755, 30390855], [30391252, 30391354], [30392447, 30392565], [30392659, 30392794], [30393080, 30393204], [30393413, 30393500], [30393595, 30393686], [30393845, 30393848]]
ENST00000563957 [[30389457, 30389841], [30389930, 30390021], [30390338, 30390504], [30390755, 30390855], [30391252, 30392794], [30393080, 30393204], [30393413, 30393500], [30393595, 30393686], [30393845, 30393919], [30394055, 30394134]] None
ENST00000572252 [[30389475, 30389841], [30389930, 30390021], [30390338, 30390504], [30390755, 30390855], [30391252, 30391354], [30392447, 30392565], [30392659, 30392794], [30393413, 30393500], [30393595, 30393686], [30393845, 30393868]] [[30392777, 30392794], [30393413, 30393500], [30393595, 30393686], [30393845, 30393863]]
ENST00000573615 [[30389504, 30389841], [30389930, 30390021], [30390338, 30390504], [30390755, 30390855], [30391086, 30391354], [30392447, 30392794], [30393080, 30393204], [30393413, 30393500], [30393595, 30393691]] None
ENST00000566517 [[30389930, 30390021], [30390338, 30390504], [30390755, 30390855], [30391252, 30391354], [30392447, 30392565], [30392659, 30392794], [30393080, 30393204], [30393413, 30393500], [30393595, 30393752]] [[30389930, 30390021], [30390338, 30390504], [30390755, 30390855], [30391252, 30391354], [30392447, 30392565], [30392659, 30392794], [30393080, 30393204], [30393413, 30393500], [30393595, 30393605]]
ENST00000568577 [[30390809, 30390855], [30391252, 30391354], [30392447, 30392565], [30392659, 30392794], [30393080, 30393204], [30393413, 30393500], [30393595, 30393686], [30394055, 30394134]] [[30393615, 30393686], [30394055, 30394125]]
ENST00000563743 [[30392815, 30393204], [30393413, 30393500], [30393595, 30393686], [30393845, 30393898]] None
ENST00000562152 [[30393163, 30393204], [30393413, 30393686], [30393845, 30393919], [30394055, 30394134]] None
ENST00000570039 [[30394072, 30394335], [30406988, 30407312]] None
ENST00000567783 [[30394142, 30394335], [30405866, 30406224]] None
NM_052838 [[30389453, 30389841], [30389930, 30390021], [30390338, 30390504], [30390755, 30390855], [30391252, 30391354], [30392447, 30392565], [30392659, 30392794], [30393080, 30393204], [30393413, 30393500], [30393595, 30393686], [30393845, 30393919], [30394055, 30394171]] [[30389754, 30389841], [30389930, 30390021], [30390338, 30390504], [30390755, 30390855], [30391252, 30391354], [30392447, 30392565], [30392659, 30392794], [30393080, 30393204], [30393413, 30393500], [30393595, 30393686], [30393845, 30393919], [30394055, 30394125]]
Promoter
Chrom Start End Description
chr16 30390157 30390207 CAGE_peak_2_at_SEPT1_5end
chr16 30390232 30390261 CAGE_peak_4_at_SEPT1_5end
chr16 30390442 30390470 CAGE_peak_3_at_SEPT1_5end
chr16 30393867 30393903 CAGE_peak_1_at_SEPT1_5end
chr16 30394126 30394142 CAGE_peak_6_at_SEPT1_5end
chr16 30394143 30394155 CAGE_peak_9_at_SEPT1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I030566 30566867 30572881 2.33 [{'connected_gene': 'SETD1A', 'score': 259.5}, {'connected_gene': 'SRCAP', 'score': 212.44}, {'connected_gene': 'ENSG00000260267', 'score': 164.22}, {'connected_gene': 'FUS', 'score': 158.56}, {'connected_gene': 'INO80E', 'score': 141.42}, {'connected_gene': 'ZNF747', 'score': 132.88}, {'connected_gene': 'NPIPB13', 'score': 132.12}, {'connected_gene': 'ZNF764', 'score': 126.62}, {'connected_gene': 'SMG1P5', 'score': 126.36}, {'connected_gene': 'SMG1P2', 'score': 122.59}, {'connected_gene': 'C16orf58', 'score': 113.15}, {'connected_gene': 'ENSG00000260304', 'score': 109.76}, {'connected_gene': 'RNF40', 'score': 80.87}, {'connected_gene': 'ZNF785', 'score': 78.53}, {'connected_gene': 'BCL7C', 'score': 77.69}, {'connected_gene': 'PRR14', 'score': 69.78}, {'connected_gene': 'SLX1A', 'score': 63.59}, {'connected_gene': 'ZNF689', 'score': 61.79}, {'connected_gene': 'FBRS', 'score': 59.94}, {'connected_gene': 'MIR762HG', 'score': 54.14}, {'connected_gene': 'ZNF629', 'score': 45.47}, {'connected_gene': 'ENSG00000260114', 'score': 45.19}, {'connected_gene': 'ENSG00000235560', 'score': 40.51}, {'connected_gene': 'ENSG00000261474', 'score': 40.26}, {'connected_gene': 'ENSG00000262766', 'score': 36.42}, {'connected_gene': 'ENSG00000260625', 'score': 34.05}, {'connected_gene': 'LOC730183', 'score': 31.98}, {'connected_gene': 'CDIPT', 'score': 31.37}, {'connected_gene': 'TAOK2', 'score': 30.53}, {'connected_gene': 'GDPD3', 'score': 29.04}, {'connected_gene': 'TGFB1I1', 'score': 28.7}, {'connected_gene': 'KAT8', 'score': 26.31}, {'connected_gene': 'PRRT2', 'score': 23.58}, {'connected_gene': 'ZNF646', 'score': 22.91}, {'connected_gene': 'ZNF688', 'score': 20.65}, {'connected_gene': 'HIRIP3', 'score': 20.56}, {'connected_gene': 'PPP4C', 'score': 20.22}, {'connected_gene': 'ORAI3', 'score': 18.66}, {'connected_gene': 'STX4', 'score': 14.91}, {'connected_gene': 'ZNF668', 'score': 11.16}, {'connected_gene': 'ENSG00000247735', 'score': 11.02}, {'connected_gene': 'LOC647086', 'score': 10.81}, {'connected_gene': 'ZNF768', 'score': 10.18}, {'connected_gene': 'MVP', 'score': 10.17}, {'connected_gene': 'ARMC5', 'score': 9.99}, {'connected_gene': 'ENSG00000238045', 'score': 9.83}, {'connected_gene': 'CCDC189', 'score': 6.3}, {'connected_gene': 'ITGAL', 'score': 5.69}, {'connected_gene': 'HSD3B7', 'score': 4.98}, {'connected_gene': 'CORO1A', 'score': 3.61}, {'connected_gene': 'SEPT1', 'score': 3.31}, {'connected_gene': 'ZNF48', 'score': 1.3}, {'connected_gene': 'ENSG00000239791', 'score': 0.77}]
chr16 GH16I030469 30469189 30475659 2.16 [{'connected_gene': 'ITGAL', 'score': 555.96}, {'connected_gene': 'ENSG00000222701', 'score': 550.77}, {'connected_gene': 'SMG1P5', 'score': 5.31}, {'connected_gene': 'ENSG00000261367', 'score': 4.46}, {'connected_gene': 'SEPT1', 'score': 2.44}, {'connected_gene': 'CORO1A', 'score': 2.4}]
chr16 GH16I030367 30367513 30384551 2.75 [{'connected_gene': 'MYLPF', 'score': 587.55}, {'connected_gene': 'ZNF48', 'score': 566.77}, {'connected_gene': 'TBC1D10B', 'score': 550.44}, {'connected_gene': 'SEPT1', 'score': 550.37}, {'connected_gene': 'SETD1A', 'score': 95.96}, {'connected_gene': 'SRCAP', 'score': 95.9}, {'connected_gene': 'INO80E', 'score': 80.26}, {'connected_gene': 'NPIPB12', 'score': 76.09}, {'connected_gene': 'SMG1P5', 'score': 62.98}, {'connected_gene': 'ZNF764', 'score': 58.15}, {'connected_gene': 'FBRS', 'score': 56.11}, {'connected_gene': 'RNF40', 'score': 53.95}, {'connected_gene': 'SMG1P2', 'score': 52.41}, {'connected_gene': 'ENSG00000260304', 'score': 48.7}, {'connected_gene': 'NPIPB13', 'score': 44.63}, {'connected_gene': 'ZNF747', 'score': 42.43}, {'connected_gene': 'ZNF646', 'score': 41.93}, {'connected_gene': 'FUS', 'score': 38.54}, {'connected_gene': 'ZNF785', 'score': 37.05}, {'connected_gene': 'PRR14', 'score': 36.8}, {'connected_gene': 'ZNF688', 'score': 30.73}, {'connected_gene': 'STX4', 'score': 30.47}, {'connected_gene': 'ZNF689', 'score': 29.5}, {'connected_gene': 'BCL7C', 'score': 27.75}, {'connected_gene': 'ENSG00000262766', 'score': 27.31}, {'connected_gene': 'SLX1A', 'score': 22.72}, {'connected_gene': 'ENSG00000260114', 'score': 19.04}, {'connected_gene': 'GDPD3', 'score': 17.83}, {'connected_gene': 'MIR762HG', 'score': 14.17}, {'connected_gene': 'LOC730183', 'score': 13.36}, {'connected_gene': 'PHKG2', 'score': 12.44}, {'connected_gene': 'CDIPT', 'score': 11.11}, {'connected_gene': 'ENSG00000235560', 'score': 11.02}, {'connected_gene': 'KIF22', 'score': 10.97}, {'connected_gene': 'ORAI3', 'score': 10.34}, {'connected_gene': 'ALDOA', 'score': 10.31}, {'connected_gene': 'ZNF668', 'score': 10.15}, {'connected_gene': 'ENSG00000238045', 'score': 9.79}, {'connected_gene': 'ZNF629', 'score': 9.71}, {'connected_gene': 'YPEL3', 'score': 4.63}, {'connected_gene': 'DOC2A', 'score': 4.32}, {'connected_gene': 'ENSG00000280137', 'score': 0.77}, {'connected_gene': 'GC16P030365', 'score': 0.39}]
chr16 GH16I030444 30444034 30448809 2.36 [{'connected_gene': 'SEPHS2', 'score': 555.76}, {'connected_gene': 'ZNF689', 'score': 19.01}, {'connected_gene': 'ZNF646', 'score': 17.43}, {'connected_gene': 'SETD1A', 'score': 17.39}, {'connected_gene': 'ENSG00000260304', 'score': 15.72}, {'connected_gene': 'FBRS', 'score': 13.93}, {'connected_gene': 'MIR762HG', 'score': 12.7}, {'connected_gene': 'INO80E', 'score': 12.68}, {'connected_gene': 'ZNF688', 'score': 12.14}, {'connected_gene': 'ZNF764', 'score': 11.33}, {'connected_gene': 'SRCAP', 'score': 11.13}, {'connected_gene': 'ENSG00000260114', 'score': 11.05}, {'connected_gene': 'LOC730183', 'score': 10.89}, {'connected_gene': 'TAOK2', 'score': 10.28}, {'connected_gene': 'RNF40', 'score': 10.2}, {'connected_gene': 'ENSG00000238045', 'score': 9.79}, {'connected_gene': 'ENSG00000262766', 'score': 9.71}, {'connected_gene': 'GDPD3', 'score': 7.52}, {'connected_gene': 'CDIPT-AS1', 'score': 5.75}, {'connected_gene': 'NPIPB12', 'score': 4.88}, {'connected_gene': 'SEPT1', 'score': 4.26}, {'connected_gene': 'ENSG00000202476', 'score': 0.44}]
chr16 GH16I030393 30393668 30396584 2.08 [{'connected_gene': 'SEPT1', 'score': 550.77}, {'connected_gene': 'ZNF48', 'score': 550.37}, {'connected_gene': 'SETD1A', 'score': 42.94}, {'connected_gene': 'FUS', 'score': 37.23}, {'connected_gene': 'INO80E', 'score': 28.7}, {'connected_gene': 'SRCAP', 'score': 27.78}, {'connected_gene': 'ZNF785', 'score': 25.08}, {'connected_gene': 'ZNF764', 'score': 24.7}, {'connected_gene': 'ZNF689', 'score': 20.95}, {'connected_gene': 'SMG1P5', 'score': 20.8}, {'connected_gene': 'ZNF629', 'score': 19.71}, {'connected_gene': 'BCL7C', 'score': 19.17}, {'connected_gene': 'FBRS', 'score': 17.73}, {'connected_gene': 'RNF40', 'score': 16.39}, {'connected_gene': 'NPIPB12', 'score': 16.28}, {'connected_gene': 'ZNF646', 'score': 14.68}, {'connected_gene': 'SMG1P2', 'score': 13.42}, {'connected_gene': 'ENSG00000260114', 'score': 13.12}, {'connected_gene': 'TBC1D10B', 'score': 11.98}, {'connected_gene': 'ENSG00000260304', 'score': 11.98}, {'connected_gene': 'SNORA80C', 'score': 11.93}, {'connected_gene': 'DCTPP1', 'score': 11.84}, {'connected_gene': 'CD2BP2', 'score': 11.67}, {'connected_gene': 'MYLPF', 'score': 11.6}, {'connected_gene': 'PRR14', 'score': 11.56}, {'connected_gene': 'ZNF668', 'score': 11.16}, {'connected_gene': 'ENSG00000262766', 'score': 11.01}, {'connected_gene': 'CDIPT', 'score': 10.9}, {'connected_gene': 'ZNF768', 'score': 10.85}, {'connected_gene': 'SEPHS2', 'score': 10.82}, {'connected_gene': 'ZNF688', 'score': 10.73}, {'connected_gene': 'SLX1A', 'score': 10.64}, {'connected_gene': 'TAOK2', 'score': 9.88}, {'connected_gene': 'ENSG00000238045', 'score': 9.84}, {'connected_gene': 'PPP4C', 'score': 9.71}, {'connected_gene': 'YPEL3', 'score': 7.4}, {'connected_gene': 'FBXL19', 'score': 5.98}, {'connected_gene': 'GC16P030388', 'score': 0.44}]
chr16 GH16I030397 30397860 30398009 0.31 [{'connected_gene': 'SEPT1', 'score': 550.77}, {'connected_gene': 'SNORA80C', 'score': 11.92}, {'connected_gene': 'TBC1D10B', 'score': 11.89}, {'connected_gene': 'CD2BP2', 'score': 11.41}, {'connected_gene': 'SEPHS2', 'score': 10.63}, {'connected_gene': 'ENSG00000260304', 'score': 4.17}, {'connected_gene': 'GC16P030401', 'score': 0.77}, {'connected_gene': 'PIR39668', 'score': 0.77}, {'connected_gene': 'GC16M030397', 'score': 0.39}, {'connected_gene': 'ZNF48', 'score': 0.37}]
chr16 GH16I030399 30397775 30397814 0.2 [{'connected_gene': 'SEPT1', 'score': 550.77}, {'connected_gene': 'SNORA80C', 'score': 11.92}, {'connected_gene': 'TBC1D10B', 'score': 11.89}, {'connected_gene': 'CD2BP2', 'score': 11.41}, {'connected_gene': 'SEPHS2', 'score': 10.63}, {'connected_gene': 'GC16P030401', 'score': 0.77}, {'connected_gene': 'PIR39668', 'score': 0.77}, {'connected_gene': 'ZNF48', 'score': 0.37}, {'connected_gene': 'GC16M030397', 'score': 0.37}]
chr16 GH16I030398 30398494 30402296 1.28 [{'connected_gene': 'GC16P030401', 'score': 550.77}, {'connected_gene': 'PIR39668', 'score': 550.77}, {'connected_gene': 'ZNF785', 'score': 16.69}, {'connected_gene': 'ENSG00000260114', 'score': 13.12}, {'connected_gene': 'TBC1D10B', 'score': 11.87}, {'connected_gene': 'SPN', 'score': 11.8}, {'connected_gene': 'PYCARD', 'score': 11.59}, {'connected_gene': 'SMG1P5', 'score': 11.41}, {'connected_gene': 'CD2BP2', 'score': 11.39}, {'connected_gene': 'FUS', 'score': 10.83}, {'connected_gene': 'SEPHS2', 'score': 10.63}, {'connected_gene': 'TAOK2', 'score': 9.87}, {'connected_gene': 'C16orf54', 'score': 9.74}, {'connected_gene': 'SEPT1', 'score': 0.77}, {'connected_gene': 'GC16M030397', 'score': 0.39}, {'connected_gene': 'ZNF48', 'score': 0.34}]
chr16 GH16I030416 30416604 30419014 1.39 [{'connected_gene': 'GC16M030421', 'score': 550.77}, {'connected_gene': 'SNORA80C', 'score': 550.77}, {'connected_gene': 'CD2BP2', 'score': 11.63}, {'connected_gene': 'SEPT1', 'score': 11.61}, {'connected_gene': 'MYLPF', 'score': 11.45}, {'connected_gene': 'TBC1D10B', 'score': 11.45}, {'connected_gene': 'ENSG00000239791', 'score': 10.76}, {'connected_gene': 'ZNF688', 'score': 10.76}, {'connected_gene': 'ZNF785', 'score': 10.75}, {'connected_gene': 'ZNF689', 'score': 10.51}, {'connected_gene': 'HIRIP3', 'score': 2.38}, {'connected_gene': 'ZNF48', 'score': 1.44}, {'connected_gene': 'GC16M030397', 'score': 0.77}, {'connected_gene': 'ZNF771', 'score': 0.39}]

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