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
ENST00000402558 [[34252378, 34254518], [34255069, 34255163], [34255732, 34257979], [34259593, 34259703], [34263098, 34263170], [34269254, 34269360], [34271806, 34271928], [34286614, 34286702], [34290171, 34290387], [34297014, 34297112], [34306249, 34306439], [34310721, 34311369]] [[34254377, 34254518], [34255069, 34255163], [34255732, 34257979], [34259593, 34259703], [34263098, 34263170], [34269254, 34269360], [34271806, 34271928], [34286614, 34286702], [34290171, 34290387], [34297014, 34297112], [34306249, 34306439], [34310721, 34311344]]
ENST00000379174 [[34252378, 34254518], [34255069, 34255163], [34255732, 34257979], [34259593, 34259703], [34263098, 34263170], [34269254, 34269360], [34271806, 34271928], [34306249, 34306439], [34310721, 34311369]] [[34254377, 34254518], [34255069, 34255163], [34255732, 34257979], [34259593, 34259703], [34263098, 34263170], [34269254, 34269360], [34271806, 34271928], [34306249, 34306439], [34310721, 34311344]]
ENST00000379166 [[34252378, 34254518], [34255069, 34255163], [34255732, 34257979], [34259593, 34259703], [34263098, 34263170], [34269254, 34269360], [34271806, 34271928], [34286614, 34286702], [34290171, 34290387], [34297014, 34297112], [34306249, 34306439], [34310721, 34311369], [34329103, 34329198]] [[34254377, 34254518], [34255069, 34255163], [34255732, 34257979], [34259593, 34259703], [34263098, 34263170], [34269254, 34269360], [34271806, 34271928], [34286614, 34286702], [34290171, 34290387], [34297014, 34297112], [34306249, 34306439], [34310721, 34311344]]
ENST00000345050 [[34252378, 34254518], [34255069, 34255163], [34255732, 34257979], [34259593, 34259703], [34263098, 34263170], [34269254, 34269360], [34271806, 34271928], [34306249, 34306439], [34310721, 34311369], [34329103, 34329198]] [[34254377, 34254518], [34255069, 34255163], [34255732, 34257979], [34259593, 34259703], [34263098, 34263170], [34269254, 34269360], [34271806, 34271928], [34306249, 34306439], [34310721, 34311344]]
NM_194313 [[34252377, 34254518], [34255069, 34255163], [34255732, 34257979], [34259593, 34259703], [34263098, 34263170], [34269254, 34269360], [34271806, 34271928], [34286614, 34286702], [34290171, 34290387], [34297014, 34297112], [34306249, 34306439], [34310721, 34311369], [34329103, 34329198]] [[34254377, 34254518], [34255069, 34255163], [34255732, 34257979], [34259593, 34259703], [34263098, 34263170], [34269254, 34269360], [34271806, 34271928], [34286614, 34286702], [34290171, 34290387], [34297014, 34297112], [34306249, 34306439], [34310721, 34311344]]
Promoter
Chrom Start End Description
chr9 34311899 34311943 CAGE_peak_6_at_KIF24_5end
chr9 34329203 34329280 CAGE_peak_1_at_KIF24_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 GH09I034332 34332463 34332632 0.65 [{'connected_gene': 'MYORG', 'score': 12.15}, {'connected_gene': 'C9orf24', 'score': 12.09}, {'connected_gene': 'CNTFR', 'score': 10.44}, {'connected_gene': 'NUDT2', 'score': 0.77}, {'connected_gene': 'GC09P034356', 'score': 0.34}, {'connected_gene': 'KIF24', 'score': 0.31}]
chr9 GH09I034346 34346820 34348037 0.83 [{'connected_gene': 'MYORG', 'score': 11.88}, {'connected_gene': 'C9orf24', 'score': 11.8}, {'connected_gene': 'RNU2-50P', 'score': 10.65}, {'connected_gene': 'DNAI1', 'score': 10.09}, {'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': 'KIF24', 'score': 8.12}, {'connected_gene': 'GC09P034356', 'score': 0.44}, {'connected_gene': 'NUDT2', 'score': 0.37}]
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 GH09I034046 34046773 34050698 2.08 [{'connected_gene': 'UBAP2', 'score': 562.24}, {'connected_gene': 'RN7SKP114', 'score': 550.77}, {'connected_gene': 'SMU1', 'score': 43.04}, {'connected_gene': 'ENSG00000228352', 'score': 38.55}, {'connected_gene': 'NFX1', 'score': 19.19}, {'connected_gene': 'NOL6', 'score': 11.82}, {'connected_gene': 'B4GALT1', 'score': 10.78}, {'connected_gene': 'UBE2R2', 'score': 8.43}, {'connected_gene': 'PRSS3', 'score': 7.6}, {'connected_gene': 'ENSG00000260947', 'score': 7.0}, {'connected_gene': 'KIF24', 'score': 6.13}, {'connected_gene': 'C9orf24', 'score': 4.66}, {'connected_gene': 'DCAF12', 'score': 4.63}, {'connected_gene': 'OSTCP8', 'score': 4.26}, {'connected_gene': 'PIR49648', 'score': 0.39}]
chr9 GH09I034047 34046001 34046200 0.46 [{'connected_gene': 'KIF24', 'score': 4.17}, {'connected_gene': 'UBAP2', 'score': 0.77}, {'connected_gene': 'PIR49648', 'score': 0.44}]
chr9 GH09I033946 33946255 33948538 0.72 [{'connected_gene': 'KIF24', 'score': 4.61}, {'connected_gene': 'GC09M033952', 'score': 0.44}, {'connected_gene': 'SNORD121A', 'score': 0.44}, {'connected_gene': 'GC09M033934', 'score': 0.39}, {'connected_gene': 'SNORD121B', 'score': 0.39}, {'connected_gene': 'UBAP2', 'score': 0.15}]
chr9 GH09I034290 34290801 34291200 0.2 [{'connected_gene': 'NUDT2', 'score': 12.0}, {'connected_gene': 'C9orf24', 'score': 10.28}, {'connected_gene': 'MYORG', 'score': 10.22}, {'connected_gene': 'CNTFR', 'score': 10.19}, {'connected_gene': 'ENSG00000228352', 'score': 10.05}, {'connected_gene': 'SNORD121A', 'score': 9.12}, {'connected_gene': 'GC09M034282', 'score': 0.44}, {'connected_gene': 'SERPINH1P1', 'score': 0.31}, {'connected_gene': 'KIF24', 'score': 0.2}]
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 GH09I034340 34340235 34340832 0.2 [{'connected_gene': 'NUDT2', 'score': 33.73}, {'connected_gene': 'MYORG', 'score': 11.71}, {'connected_gene': 'C9orf24', 'score': 11.65}, {'connected_gene': 'KIF24', 'score': 0.37}, {'connected_gene': 'GC09P034356', 'score': 0.37}]
chr9 GH09I034338 34338651 34338710 0.73 [{'connected_gene': 'NUDT2', 'score': 550.44}, {'connected_gene': 'MYORG', 'score': 11.71}, {'connected_gene': 'C9orf24', 'score': 11.65}, {'connected_gene': 'GC09P034356', 'score': 0.37}, {'connected_gene': 'KIF24', 'score': 0.34}]
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 GH09I034378 34378963 34381416 1.67 [{'connected_gene': 'NUDT2', 'score': 45.05}, {'connected_gene': 'KIF24', 'score': 8.62}, {'connected_gene': 'MYORG', 'score': 0.77}, {'connected_gene': 'GC09M034390', 'score': 0.44}, {'connected_gene': 'ENSG00000207032', 'score': 0.44}, {'connected_gene': 'C9orf24', 'score': 0.37}]
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 GH09I034326 34326543 34327006 0.54 [{'connected_gene': 'NUDT2', 'score': 44.63}, {'connected_gene': 'KIF24', 'score': 8.05}, {'connected_gene': 'FANCG', 'score': 7.89}, {'connected_gene': 'SERPINH1P1', 'score': 0.44}]
chr9 GH09I034325 34325190 34326400 0.77 [{'connected_gene': 'NUDT2', 'score': 33.12}, {'connected_gene': 'SERPINH1P1', 'score': 0.44}, {'connected_gene': 'KIF24', 'score': 0.29}]
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 GH09I034123 34123531 34127855 2.04 [{'connected_gene': 'DCAF12', 'score': 556.95}, {'connected_gene': 'ENSG00000228352', 'score': 11.06}, {'connected_gene': 'PIGO', 'score': 9.87}, {'connected_gene': 'ENSG00000260947', 'score': 5.88}, {'connected_gene': 'KIF24', 'score': 4.31}, {'connected_gene': 'CCL19', 'score': 4.08}, {'connected_gene': 'PIRC37', 'score': 0.44}, {'connected_gene': 'GC09P034099', 'score': 0.31}]
chr9 GH09I033739 33739023 33740360 0.76 [{'connected_gene': 'LINC01251', 'score': 550.77}, {'connected_gene': 'IMPDH1P1', 'score': 10.01}, {'connected_gene': 'PRSS3', 'score': 9.91}, {'connected_gene': 'ENSG00000260947', 'score': 9.89}, {'connected_gene': 'ENSG00000227301', 'score': 5.14}, {'connected_gene': 'KIF24', 'score': 4.02}, {'connected_gene': 'LOC102724216', 'score': 0.44}]
chr9 GH09I033835 33835165 33837399 1.07 [{'connected_gene': 'SNORD121B', 'score': 10.91}, {'connected_gene': 'UBAP2', 'score': 10.84}, {'connected_gene': 'SNORD121A', 'score': 10.09}, {'connected_gene': 'UBE2R2', 'score': 7.48}, {'connected_gene': 'NUDT2', 'score': 6.88}, {'connected_gene': 'KIF24', 'score': 6.08}, {'connected_gene': 'C9orf24', 'score': 4.27}, {'connected_gene': 'ENSG00000200834', 'score': 0.44}, {'connected_gene': 'GC09P034128', 'score': 0.29}]
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 GH09I033941 33941979 33943984 0.63 [{'connected_gene': 'ENSG00000228352', 'score': 10.13}, {'connected_gene': 'UBE2R2', 'score': 7.72}, {'connected_gene': 'KIF24', 'score': 6.13}, {'connected_gene': 'C9orf24', 'score': 4.48}, {'connected_gene': 'SNORD121B', 'score': 0.44}, {'connected_gene': 'SNORD121A', 'score': 0.44}, {'connected_gene': 'GC09M033934', 'score': 0.44}, {'connected_gene': 'GC09M033952', 'score': 0.44}, {'connected_gene': 'UBAP2', 'score': 0.14}]
chr9 GH09I034131 34131759 34133100 0.9 [{'connected_gene': 'GC09P034261', 'score': 550.77}, {'connected_gene': 'PIR59601', 'score': 550.77}, {'connected_gene': 'GC09P034216', 'score': 550.77}, {'connected_gene': 'GC09P034224', 'score': 550.77}, {'connected_gene': 'PIR58228', 'score': 550.77}, {'connected_gene': 'GC09P034244', 'score': 550.77}, {'connected_gene': 'GC09P034238', 'score': 550.77}, {'connected_gene': 'PIR46961', 'score': 550.77}, {'connected_gene': 'GC09P034245', 'score': 550.77}, {'connected_gene': 'PIR36807', 'score': 550.77}, {'connected_gene': 'GC09P034225', 'score': 550.77}, {'connected_gene': 'GC09M034137', 'score': 550.77}, {'connected_gene': 'GC09P034141', 'score': 550.77}, {'connected_gene': 'GC09M034138', 'score': 550.77}, {'connected_gene': 'GC09P034243', 'score': 550.77}, {'connected_gene': 'PIR39467', 'score': 550.77}, {'connected_gene': 'GC09P034264', 'score': 550.77}, {'connected_gene': 'GC09M034136', 'score': 550.77}, {'connected_gene': 'GC09P034257', 'score': 550.77}, {'connected_gene': 'GC09P034234', 'score': 550.77}, {'connected_gene': 'GC09P034265', 'score': 550.77}, {'connected_gene': 'GC09P034250', 'score': 550.77}, {'connected_gene': 'GC09P034256', 'score': 550.77}, {'connected_gene': 'GC09P034231', 'score': 550.77}, {'connected_gene': 'GC09P034260', 'score': 550.77}, {'connected_gene': 'PIR42140', 'score': 550.77}, {'connected_gene': 'GC09P034226', 'score': 550.77}, {'connected_gene': 'GC09P034211', 'score': 550.77}, {'connected_gene': 'GC09P034233', 'score': 550.77}, {'connected_gene': 'GC09P034217', 'score': 550.77}, {'connected_gene': 'GC09P034212', 'score': 550.77}, {'connected_gene': 'GC09P034267', 'score': 550.77}, {'connected_gene': 'GC09P034248', 'score': 550.77}, {'connected_gene': 'GC09P034266', 'score': 550.77}, {'connected_gene': 'GC09P034263', 'score': 550.77}, {'connected_gene': 'PIR44241', 'score': 550.77}, {'connected_gene': 'GC09P034259', 'score': 550.77}, {'connected_gene': 'ENSG00000260947', 'score': 5.94}, {'connected_gene': 'KIF24', 'score': 4.14}, {'connected_gene': 'IMPDH1P1', 'score': 0.77}, {'connected_gene': 'DCAF12', 'score': 0.44}, {'connected_gene': 'PIRC37', 'score': 0.39}, {'connected_gene': 'GC09P034099', 'score': 0.29}]
chr9 GH09I033734 33734236 33735824 0.67 [{'connected_gene': 'ENSG00000260947', 'score': 19.07}, {'connected_gene': 'KIF24', 'score': 4.01}, {'connected_gene': 'LOC102724216', 'score': 0.77}, {'connected_gene': 'LINC01251', 'score': 0.77}]
chr9 GH09I033940 33940012 33941114 0.89 [{'connected_gene': 'ENSG00000228352', 'score': 10.13}, {'connected_gene': 'NUDT2', 'score': 7.8}, {'connected_gene': 'UBE2R2', 'score': 7.24}, {'connected_gene': 'KIF24', 'score': 4.61}, {'connected_gene': 'SNORD121B', 'score': 0.44}, {'connected_gene': 'GC09M033934', 'score': 0.44}, {'connected_gene': 'SNORD121A', 'score': 0.39}, {'connected_gene': 'GC09M033952', 'score': 0.39}, {'connected_gene': 'UBAP2', 'score': 0.14}]
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 GH09I034257 34257323 34257472 0.2 [{'connected_gene': 'PIR42088', 'score': 550.77}, {'connected_gene': 'RNU2-50P', 'score': 11.39}, {'connected_gene': 'ENSG00000228352', 'score': 11.08}, {'connected_gene': 'DCAF12', 'score': 10.9}, {'connected_gene': 'IMPDH1P1', 'score': 10.9}, {'connected_gene': 'MYORG', 'score': 10.58}, {'connected_gene': 'C9orf24', 'score': 10.57}, {'connected_gene': 'KIF24', 'score': 0.15}]

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