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
ENST00000536252 [[34179002, 34179238], [34203378, 34203533], [34220905, 34220946], [34234213, 34234338], [34241182, 34242106], [34249776, 34249959], [34250655, 34250757], [34251389, 34252521]] [[34220912, 34220946], [34234213, 34234338], [34241182, 34242106], [34249776, 34249959], [34250655, 34250757], [34251389, 34251530]]
ENST00000545103 [[34179002, 34179238], [34234213, 34234338], [34241182, 34242106], [34249776, 34249959], [34250655, 34250757], [34251389, 34252521]] [[34179012, 34179238], [34234213, 34234338], [34241182, 34242106], [34249776, 34249959], [34250655, 34250757], [34251389, 34251530]]
ENST00000540348 [[34179002, 34179238], [34196333, 34196456], [34220905, 34220946], [34234213, 34234338], [34241182, 34242106], [34249776, 34249959], [34250655, 34250757], [34251389, 34252521]] [[34220912, 34220946], [34234213, 34234338], [34241182, 34242106], [34249776, 34249959], [34250655, 34250757], [34251389, 34251530]]
ENST00000543944 [[34179002, 34179238], [34220905, 34220946], [34241182, 34242106], [34249776, 34249959], [34250655, 34250757], [34251389, 34252521]] [[34179012, 34179238], [34220905, 34220946], [34241182, 34242106], [34249776, 34249959], [34250655, 34250757], [34251389, 34251530]]
ENST00000297661 [[34179010, 34179238], [34220905, 34220946], [34234213, 34234338], [34241182, 34242106], [34249776, 34249959], [34250655, 34250757], [34251389, 34252521]] [[34220912, 34220946], [34234213, 34234338], [34241182, 34242106], [34249776, 34249959], [34250655, 34250757], [34251389, 34251530]]
ENST00000379186 [[34179035, 34179238], [34220905, 34220946], [34234213, 34234338], [34241182, 34242106], [34250655, 34250757], [34251389, 34252518]] [[34220912, 34220946], [34234213, 34234338], [34241182, 34242106], [34250655, 34250757], [34251389, 34251530]]
ENST00000359544 [[34220436, 34220465], [34220905, 34220946], [34234213, 34234338], [34241182, 34242106], [34249776, 34249959], [34250655, 34250757], [34251389, 34252520]] [[34220912, 34220946], [34234213, 34234338], [34241182, 34242106], [34249776, 34249959], [34250655, 34250757], [34251389, 34251530]]
NM_001171201 [[34179002, 34179238], [34234213, 34234338], [34241182, 34242106], [34249776, 34249959], [34250655, 34250757], [34251389, 34252521]] [[34179012, 34179238], [34234213, 34234338], [34241182, 34242106], [34249776, 34249959], [34250655, 34250757], [34251389, 34251530]]
NM_001171202 [[34179002, 34179238], [34220905, 34220946], [34241182, 34242106], [34249776, 34249959], [34250655, 34250757], [34251389, 34252521]] [[34179012, 34179238], [34220905, 34220946], [34241182, 34242106], [34249776, 34249959], [34250655, 34250757], [34251389, 34251530]]
NM_016525 [[34179002, 34179238], [34220905, 34220946], [34234213, 34234338], [34241182, 34242106], [34249776, 34249959], [34250655, 34250757], [34251389, 34252521]] [[34220912, 34220946], [34234213, 34234338], [34241182, 34242106], [34249776, 34249959], [34250655, 34250757], [34251389, 34251530]]
NR_033243 [[34179002, 34179238], [34216671, 34216787], [34220905, 34220946], [34234213, 34234338], [34241182, 34242106], [34249776, 34249959], [34250655, 34250757], [34251389, 34252521]] None
NM_001171203 [[34179002, 34179238], [34203378, 34203533], [34220905, 34220946], [34234213, 34234338], [34241182, 34242106], [34249776, 34249959], [34250655, 34250757], [34251389, 34252521]] [[34220912, 34220946], [34234213, 34234338], [34241182, 34242106], [34249776, 34249959], [34250655, 34250757], [34251389, 34251530]]
NM_001171204 [[34179002, 34179238], [34196333, 34196456], [34220905, 34220946], [34234213, 34234338], [34241182, 34242106], [34249776, 34249959], [34250655, 34250757], [34251389, 34252521]] [[34220912, 34220946], [34234213, 34234338], [34241182, 34242106], [34249776, 34249959], [34250655, 34250757], [34251389, 34251530]]
Promoter
Chrom Start End Description
chr9 34179030 34179064 CAGE_peak_1_at_UBAP1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I034191 34191150 34192309 0.98 [{'connected_gene': 'RPL35AP2', 'score': 550.77}, {'connected_gene': 'GC09P034268', 'score': 550.77}, {'connected_gene': 'IMPDH1P1', 'score': 11.98}, {'connected_gene': 'DCAF12', 'score': 11.97}, {'connected_gene': 'ENSG00000228352', 'score': 10.45}, {'connected_gene': 'KIF24', 'score': 7.42}, {'connected_gene': 'GC09M034194', 'score': 0.77}, {'connected_gene': 'UBAP1', 'score': 0.39}]
chr9 GH09I034192 34192850 34194122 0.43 [{'connected_gene': 'RPL35AP2', 'score': 550.77}, {'connected_gene': 'GC09M034194', 'score': 550.77}, {'connected_gene': 'GC09P034268', 'score': 550.77}, {'connected_gene': 'NUDT2', 'score': 29.94}, {'connected_gene': 'IMPDH1P1', 'score': 11.29}, {'connected_gene': 'DCAF12', 'score': 11.27}, {'connected_gene': 'ENSG00000228352', 'score': 10.92}, {'connected_gene': 'UBAP1', 'score': 10.79}]
chr9 GH09I034373 34373648 34377818 2.22 [{'connected_gene': 'MYORG', 'score': 550.77}, {'connected_gene': 'NUDT2', 'score': 49.09}, {'connected_gene': 'KIF24', 'score': 8.64}, {'connected_gene': 'UBAP1', 'score': 7.8}]
chr9 GH09I033813 33813238 33820185 2.55 [{'connected_gene': 'UBE2R2', 'score': 565.8}, {'connected_gene': 'UBAP1', 'score': 12.35}, {'connected_gene': 'PRSS3', 'score': 7.43}, {'connected_gene': 'ENSG00000260947', 'score': 4.44}, {'connected_gene': 'ENSG00000230074', 'score': 4.22}, {'connected_gene': 'UBAP2', 'score': 4.17}, {'connected_gene': 'DCAF12', 'score': 3.96}, {'connected_gene': 'UBE2R2-AS1', 'score': 0.77}, {'connected_gene': 'GC09P034201', 'score': 0.29}]
chr9 GH09I033931 33931172 33931495 0.22 [{'connected_gene': 'UBE2R2', 'score': 11.42}, {'connected_gene': 'UBAP1', 'score': 1.91}, {'connected_gene': 'GC09M033934', 'score': 0.77}, {'connected_gene': 'SNORD121B', 'score': 0.77}, {'connected_gene': 'RNU4ATAC11P', 'score': 0.21}, {'connected_gene': 'UBAP2', 'score': 0.13}]
chr9 GH09I034150 34150323 34150472 0.88 [{'connected_gene': 'UBAP1', 'score': 12.5}, {'connected_gene': 'ENSG00000228352', 'score': 10.68}, {'connected_gene': 'UBAP2', 'score': 10.39}, {'connected_gene': 'RNU2-50P', 'score': 9.9}, {'connected_gene': 'SNORD121B', 'score': 9.66}, {'connected_gene': 'PIR62533', 'score': 0.39}, {'connected_gene': 'GC09P034270', 'score': 0.37}, {'connected_gene': 'PIRC37', 'score': 0.29}, {'connected_gene': 'GC09P034099', 'score': 0.23}]
chr9 GH09I034177 34177833 34181013 2.36 [{'connected_gene': 'UBAP1', 'score': 577.73}, {'connected_gene': 'NUDT2', 'score': 9.12}, {'connected_gene': 'UBE2R2', 'score': 2.91}, {'connected_gene': 'LOC114224', 'score': 0.44}]
chr9 GH09I034157 34157933 34159521 1.18 [{'connected_gene': 'IMPDH1P1', 'score': 13.31}, {'connected_gene': 'DCAF12', 'score': 13.26}, {'connected_gene': 'ENSG00000228352', 'score': 11.3}, {'connected_gene': 'UBAP1', 'score': 8.71}, {'connected_gene': 'GC09P034270', 'score': 0.39}, {'connected_gene': 'PIR62533', 'score': 0.34}, {'connected_gene': 'GC09P034099', 'score': 0.21}]
chr9 GH09I034171 34171713 34172400 0.76 [{'connected_gene': 'IMPDH1P1', 'score': 12.43}, {'connected_gene': 'DCAF12', 'score': 12.42}, {'connected_gene': 'UBAP1', 'score': 8.79}, {'connected_gene': 'GC09P034270', 'score': 0.77}]
chr9 GH09I034163 34163301 34164103 0.68 [{'connected_gene': 'IMPDH1P1', 'score': 13.1}, {'connected_gene': 'DCAF12', 'score': 13.07}, {'connected_gene': 'ENSG00000228352', 'score': 10.58}, {'connected_gene': 'SNORD121A', 'score': 9.64}, {'connected_gene': 'UBAP1', 'score': 8.71}, {'connected_gene': 'GC09P034270', 'score': 0.44}, {'connected_gene': 'PIR62533', 'score': 0.31}]
chr9 GH09I034372 34372400 34373431 0.49 [{'connected_gene': 'NUDT2', 'score': 31.68}, {'connected_gene': 'C9orf24', 'score': 12.27}, {'connected_gene': 'RNU2-50P', 'score': 10.51}, {'connected_gene': 'DNAI1', 'score': 10.13}, {'connected_gene': 'FAM219A', 'score': 10.12}, {'connected_gene': 'RPP25L', 'score': 9.94}, {'connected_gene': 'KIF24', 'score': 8.67}, {'connected_gene': 'UBAP1', 'score': 7.8}, {'connected_gene': 'MYORG', 'score': 0.77}]
chr9 GH09I034333 34333863 34335258 0.84 [{'connected_gene': 'NUDT2', 'score': 50.59}, {'connected_gene': 'MYORG', 'score': 12.15}, {'connected_gene': 'C9orf24', 'score': 12.1}, {'connected_gene': 'CNTFR', 'score': 10.44}, {'connected_gene': 'UBAP1', 'score': 5.67}, {'connected_gene': 'GC09P034356', 'score': 0.34}, {'connected_gene': 'KIF24', 'score': 0.31}]
chr9 GH09I034341 34341312 34346340 1.02 [{'connected_gene': 'NUDT2', 'score': 50.6}, {'connected_gene': 'MYORG', 'score': 11.86}, {'connected_gene': 'C9orf24', 'score': 11.8}, {'connected_gene': 'RNU2-50P', 'score': 10.65}, {'connected_gene': 'DNAI1', 'score': 10.08}, {'connected_gene': 'FAM219A', 'score': 10.08}, {'connected_gene': 'IMPDH1P1', 'score': 9.98}, {'connected_gene': 'DCAF12', 'score': 9.98}, {'connected_gene': 'ENSG00000230729', 'score': 9.9}, {'connected_gene': 'RPP25L', 'score': 9.85}, {'connected_gene': 'FANCG', 'score': 7.9}, {'connected_gene': 'UBAP1', 'score': 7.81}, {'connected_gene': 'GC09P034356', 'score': 0.39}, {'connected_gene': 'KIF24', 'score': 0.37}]
chr9 GH09I034151 34151136 34151898 0.59 [{'connected_gene': 'NUDT2', 'score': 40.53}, {'connected_gene': 'UBAP1', 'score': 12.5}, {'connected_gene': 'ENSG00000228352', 'score': 10.68}, {'connected_gene': 'UBAP2', 'score': 10.39}, {'connected_gene': 'RNU2-50P', 'score': 9.9}, {'connected_gene': 'SNORD121B', 'score': 9.66}, {'connected_gene': 'KIF24', 'score': 7.39}, {'connected_gene': 'PIR62533', 'score': 0.39}, {'connected_gene': 'GC09P034270', 'score': 0.37}, {'connected_gene': 'GC09P034099', 'score': 0.23}]
chr9 GH09I034197 34197578 34199055 0.54 [{'connected_gene': 'NUDT2', 'score': 29.51}, {'connected_gene': 'UBAP1', 'score': 12.37}, {'connected_gene': 'IMPDH1P1', 'score': 11.68}, {'connected_gene': 'DCAF12', 'score': 11.67}, {'connected_gene': 'KIF24', 'score': 10.31}, {'connected_gene': 'ENSG00000279336', 'score': 0.77}, {'connected_gene': 'GC09P034269', 'score': 0.77}]
chr9 GH09I034175 34175878 34176523 0.43 [{'connected_gene': 'NUDT2', 'score': 26.69}, {'connected_gene': 'NFX1', 'score': 11.13}, {'connected_gene': 'IL11RA', 'score': 10.9}, {'connected_gene': 'ENSG00000230074', 'score': 10.75}, {'connected_gene': 'UBAP1', 'score': 0.77}, {'connected_gene': 'GC09P034270', 'score': 0.44}]
chr9 GH09I034327 34327276 34330801 2.05 [{'connected_gene': 'NUDT2', 'score': 594.36}, {'connected_gene': 'KIF24', 'score': 559.83}, {'connected_gene': 'UBAP2', 'score': 25.62}, {'connected_gene': 'ENSG00000228352', 'score': 25.4}, {'connected_gene': 'NOL6', 'score': 20.02}, {'connected_gene': 'PIGO', 'score': 19.81}, {'connected_gene': 'FAM205A', 'score': 11.93}, {'connected_gene': 'C9orf131', 'score': 10.71}, {'connected_gene': 'UNC13B', 'score': 10.65}, {'connected_gene': 'VCP', 'score': 10.08}, {'connected_gene': 'FANCG', 'score': 7.89}, {'connected_gene': 'UBAP1', 'score': 5.8}, {'connected_gene': 'SERPINH1P1', 'score': 0.39}]
chr9 GH09I034351 34351823 34353452 0.95 [{'connected_gene': 'NUDT2', 'score': 28.03}, {'connected_gene': 'KIF24', 'score': 8.48}, {'connected_gene': 'UBAP1', 'score': 7.11}, {'connected_gene': 'GC09P034356', 'score': 0.77}]
chr9 GH09I034203 34203601 34204601 0.52 [{'connected_gene': 'NUDT2', 'score': 33.46}, {'connected_gene': 'IMPDH1P1', 'score': 11.03}, {'connected_gene': 'DCAF12', 'score': 11.01}, {'connected_gene': 'RNU2-50P', 'score': 10.61}, {'connected_gene': 'ENSG00000228352', 'score': 10.19}, {'connected_gene': 'UBAP1', 'score': 8.99}, {'connected_gene': 'ENSG00000279336', 'score': 0.77}, {'connected_gene': 'RNA5SP282', 'score': 0.77}]
chr9 GH09I034363 34363035 34365649 0.92 [{'connected_gene': 'DNAI1', 'score': 10.54}, {'connected_gene': 'FAM219A', 'score': 10.54}, {'connected_gene': 'RPP25L', 'score': 10.29}, {'connected_gene': 'ENSG00000230729', 'score': 9.8}, {'connected_gene': 'ENSG00000228352', 'score': 9.74}, {'connected_gene': 'UBAP1', 'score': 7.8}, {'connected_gene': 'KIF24', 'score': 0.77}, {'connected_gene': 'MYORG', 'score': 0.39}]
chr9 GH09I034185 34185215 34187862 1.14 [{'connected_gene': 'LOC114224', 'score': 550.77}, {'connected_gene': 'NUDT2', 'score': 29.4}, {'connected_gene': 'UBAP1', 'score': 12.46}, {'connected_gene': 'IMPDH1P1', 'score': 11.99}, {'connected_gene': 'DCAF12', 'score': 11.98}, {'connected_gene': 'RPL35AP2', 'score': 0.77}]
chr9 GH09I034226 34226503 34226652 0.85 [{'connected_gene': 'RPS8P9', 'score': 550.77}, {'connected_gene': 'GC09M034226', 'score': 550.77}, {'connected_gene': 'IMPDH1P1', 'score': 10.83}, {'connected_gene': 'DCAF12', 'score': 10.83}, {'connected_gene': 'ENSG00000228352', 'score': 10.66}, {'connected_gene': 'RNU2-50P', 'score': 10.5}, {'connected_gene': 'UBAP2', 'score': 9.86}, {'connected_gene': 'SNORD121B', 'score': 9.82}, {'connected_gene': 'SNORD121A', 'score': 9.69}, {'connected_gene': 'PIR43374', 'score': 0.39}, {'connected_gene': 'UBAP1', 'score': 0.25}]
chr9 GH09I034221 34221814 34224117 0.71 [{'connected_gene': 'RPS8P9', 'score': 550.77}, {'connected_gene': 'GC09M034226', 'score': 550.77}, {'connected_gene': 'NUDT2', 'score': 27.58}, {'connected_gene': 'UBAP1', 'score': 12.17}, {'connected_gene': 'IMPDH1P1', 'score': 10.84}, {'connected_gene': 'DCAF12', 'score': 10.83}, {'connected_gene': 'RNU2-50P', 'score': 10.81}, {'connected_gene': 'ENSG00000228352', 'score': 10.7}, {'connected_gene': 'KIF24', 'score': 10.38}, {'connected_gene': 'UBAP2', 'score': 9.86}, {'connected_gene': 'SNORD121B', 'score': 9.82}, {'connected_gene': 'SNORD121A', 'score': 9.69}, {'connected_gene': 'RNA5SP282', 'score': 0.37}]
chr9 GH09I034172 34171343 34171432 0.2 [{'connected_gene': 'GC09P034270', 'score': 550.77}, {'connected_gene': 'IMPDH1P1', 'score': 12.43}, {'connected_gene': 'DCAF12', 'score': 12.42}, {'connected_gene': 'UBAP1', 'score': 0.44}]
chr9 GH09I034248 34248858 34256650 0.97 [{'connected_gene': 'PIR51676', 'score': 550.77}, {'connected_gene': 'PIR43892', 'score': 550.77}, {'connected_gene': 'GC09M034257', 'score': 550.77}, {'connected_gene': 'PIR47801', 'score': 550.77}, {'connected_gene': 'NUDT2', 'score': 29.74}, {'connected_gene': 'UBAP1', 'score': 12.2}, {'connected_gene': 'KIF24', 'score': 10.15}, {'connected_gene': 'ENSG00000260947', 'score': 8.17}, {'connected_gene': 'PIR43535', 'score': 0.77}]
chr9 GH09I034170 34170305 34170986 0.2 [{'connected_gene': 'GC09P034270', 'score': 550.77}, {'connected_gene': 'NUDT2', 'score': 33.12}, {'connected_gene': 'IMPDH1P1', 'score': 12.42}, {'connected_gene': 'DCAF12', 'score': 12.41}, {'connected_gene': 'ENSG00000228352', 'score': 9.76}, {'connected_gene': 'UBAP1', 'score': 0.44}]
chr9 GH09I033953 33953870 33954187 0.25 [{'connected_gene': 'GC09M033952', 'score': 550.77}, {'connected_gene': 'SNORD121A', 'score': 550.77}, {'connected_gene': 'UBE2R2', 'score': 14.86}, {'connected_gene': 'UBAP1', 'score': 1.37}, {'connected_gene': 'OSTCP8', 'score': 0.39}, {'connected_gene': 'UBAP2', 'score': 0.16}]

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