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
ENST00000375251 [[99212482, 99212910], [99220660, 99220823], [99246743, 99246915], [99250370, 99250556], [99252263, 99253618]] [[99212561, 99212910], [99220660, 99220823], [99246743, 99246915], [99250370, 99250556], [99252263, 99252320]]
ENST00000375249 [[99212486, 99212910], [99220660, 99220823], [99227618, 99227780], [99227991, 99228060], [99233292, 99233376], [99246743, 99246915], [99250370, 99250556], [99252263, 99253618]] [[99212561, 99212910], [99220660, 99220823], [99227618, 99227780], [99227991, 99228060], [99233292, 99233376], [99246743, 99246915], [99250370, 99250556], [99252263, 99252320]]
ENST00000466976 [[99245306, 99246915], [99250370, 99250556], [99252263, 99253618]] None
NM_014282 [[99212436, 99212910], [99220660, 99220823], [99227618, 99227780], [99227991, 99228060], [99233292, 99233376], [99246743, 99246915], [99250370, 99250556], [99252263, 99253618]] [[99212561, 99212910], [99220660, 99220823], [99227618, 99227780], [99227991, 99228060], [99233292, 99233376], [99246743, 99246915], [99250370, 99250556], [99252263, 99252320]]
Promoter
Chrom Start End Description
chr9 99212366 99212385 CAGE_peak_2_at_HABP4_5end
chr9 99212403 99212536 CAGE_peak_1_at_HABP4_5end
chr9 99220754 99220765 CAGE_peak_6_at_HABP4_5end
chr9 99220771 99220778 CAGE_peak_13_at_HABP4_5end
chr9 99227670 99227683 CAGE_peak_3_at_HABP4_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I096513 96513232 96516496 1.14 [{'connected_gene': 'HSD17B3', 'score': 10.03}, {'connected_gene': 'RNU6-1160P', 'score': 10.02}, {'connected_gene': 'HABP4', 'score': 0.21}, {'connected_gene': 'LOC105376163', 'score': 0.18}, {'connected_gene': 'CDC14B', 'score': 0.15}]
chr9 GH09I096449 96449479 96451748 2.18 [{'connected_gene': 'HABP4', 'score': 564.31}, {'connected_gene': 'NUTM2G', 'score': 11.22}, {'connected_gene': 'ERCC6L2', 'score': 10.01}, {'connected_gene': 'ENSG00000271155', 'score': 9.83}, {'connected_gene': 'ANKRD18CP', 'score': 5.64}, {'connected_gene': 'CDC14B', 'score': 2.2}, {'connected_gene': 'ZNF510', 'score': 1.68}, {'connected_gene': 'LOC105376163', 'score': 0.11}]
chr9 GH09I096498 96498234 96500285 0.46 [{'connected_gene': 'HABP4', 'score': 12.06}, {'connected_gene': 'HSD17B3', 'score': 4.86}, {'connected_gene': 'CDC14B', 'score': 4.31}, {'connected_gene': 'LOC105376163', 'score': 0.15}]
chr9 GH09I096338 96338479 96341869 1.16 [{'connected_gene': 'HABP4', 'score': 8.23}, {'connected_gene': 'HSD17B3', 'score': 0.31}, {'connected_gene': 'SLC35D2', 'score': 0.26}]
chr9 GH09I096519 96519879 96520028 0.2 [{'connected_gene': 'HABP4', 'score': 12.07}, {'connected_gene': 'HSD17B3', 'score': 10.03}, {'connected_gene': 'RNU6-1160P', 'score': 10.02}, {'connected_gene': 'LOC105376163', 'score': 0.18}, {'connected_gene': 'CDC14B', 'score': 0.15}]
chr9 GH09I096505 96505029 96506186 0.2 [{'connected_gene': 'HABP4', 'score': 12.04}, {'connected_gene': 'HSD17B3', 'score': 4.86}, {'connected_gene': 'LOC105376163', 'score': 0.16}, {'connected_gene': 'CDC14B', 'score': 0.14}]
chr9 GH09I096342 96342348 96345936 1.23 [{'connected_gene': 'HABP4', 'score': 7.53}, {'connected_gene': 'CDC14B', 'score': 6.88}, {'connected_gene': 'HSD17B3', 'score': 0.29}, {'connected_gene': 'SLC35D2', 'score': 0.28}]
chr9 GH09I096490 96490790 96493226 1.11 [{'connected_gene': 'HABP4', 'score': 12.9}, {'connected_gene': 'LOC105376163', 'score': 0.14}, {'connected_gene': 'CDC14B', 'score': 0.13}]
chr9 GH09I096508 96508063 96510783 0.43 [{'connected_gene': 'HABP4', 'score': 11.8}, {'connected_gene': 'LOC105376163', 'score': 0.16}, {'connected_gene': 'CDC14B', 'score': 0.14}]
chr9 GH09I096493 96493844 96494048 0.4 [{'connected_gene': 'HABP4', 'score': 11.67}, {'connected_gene': 'LOC105376163', 'score': 0.14}, {'connected_gene': 'CDC14B', 'score': 0.13}]
chr9 GH09I096501 96501519 96501668 0.4 [{'connected_gene': 'HABP4', 'score': 12.05}, {'connected_gene': 'LOC105376163', 'score': 0.15}, {'connected_gene': 'CDC14B', 'score': 0.13}]
chr9 GH09I096502 96502356 96503335 0.58 [{'connected_gene': 'HABP4', 'score': 0.23}, {'connected_gene': 'LOC105376163', 'score': 0.15}, {'connected_gene': 'CDC14B', 'score': 0.13}]
chr9 GH09I096494 96494999 96496204 0.51 [{'connected_gene': 'HABP4', 'score': 11.37}, {'connected_gene': 'LOC105376163', 'score': 0.15}, {'connected_gene': 'CDC14B', 'score': 0.13}]
chr9 GH09I096485 96485528 96488142 1.1 [{'connected_gene': 'HABP4', 'score': 12.9}, {'connected_gene': 'LOC105376163', 'score': 0.14}]
chr9 GH09I096462 96462419 96462917 0.31 [{'connected_gene': 'HABP4', 'score': 11.67}, {'connected_gene': 'LOC105376163', 'score': 0.12}]
chr9 GH09I096478 96478353 96479657 0.66 [{'connected_gene': 'HABP4', 'score': 13.72}, {'connected_gene': 'LOC105376163', 'score': 0.13}]
chr9 GH09I096482 96482999 96484979 0.66 [{'connected_gene': 'HABP4', 'score': 12.92}, {'connected_gene': 'LOC105376163', 'score': 0.13}]
chr9 GH09I096412 96412457 96414829 1.03 [{'connected_gene': 'HABP4', 'score': 9.57}, {'connected_gene': 'LOC100421693', 'score': 0.44}, {'connected_gene': 'ZNF367', 'score': 0.44}]
chr9 GH09I096398 96398239 96400138 0.69 [{'connected_gene': 'HABP4', 'score': 7.85}, {'connected_gene': 'LOC100421693', 'score': 0.44}, {'connected_gene': 'SLC35D2', 'score': 0.37}, {'connected_gene': 'ZNF367', 'score': 0.37}]
chr9 GH09I096437 96437159 96437308 0.31 [{'connected_gene': 'HABP4', 'score': 0.39}, {'connected_gene': 'PIR44583', 'score': 0.37}]
chr9 GH09I096438 96436239 96436388 0.69 [{'connected_gene': 'HABP4', 'score': 0.39}, {'connected_gene': 'PIR44583', 'score': 0.37}]
chr9 GH09I096424 96424867 96426294 0.52 [{'connected_gene': 'HABP4', 'score': 10.42}, {'connected_gene': 'PIR44583', 'score': 0.44}]
chr9 GH09I096436 96436866 96437140 0.67 [{'connected_gene': 'HABP4', 'score': 0.39}, {'connected_gene': 'PIR44583', 'score': 0.37}]
chr9 GH09I096521 96521905 96524405 0.65 [{'connected_gene': 'CDC14B', 'score': 11.15}, {'connected_gene': 'HSD17B3', 'score': 10.03}, {'connected_gene': 'RNU6-1160P', 'score': 10.02}, {'connected_gene': 'HABP4', 'score': 0.19}, {'connected_gene': 'LOC105376163', 'score': 0.18}]
chr9 GH09I096389 96389994 96392792 1.3 [{'connected_gene': 'ZNF367', 'score': 11.54}, {'connected_gene': 'HABP4', 'score': 8.59}, {'connected_gene': 'SLC35D2', 'score': 0.44}, {'connected_gene': 'LOC100421693', 'score': 0.37}]
chr9 GH09I096460 96460059 96461977 0.43 [{'connected_gene': 'ZNF367', 'score': 10.94}, {'connected_gene': 'HABP4', 'score': 0.39}, {'connected_gene': 'LOC105376163', 'score': 0.12}]
chr9 GH09I096552 96552640 96558249 1.03 [{'connected_gene': 'CDC14B', 'score': 16.89}, {'connected_gene': 'ENSG00000224848', 'score': 4.3}, {'connected_gene': 'HABP4', 'score': 3.27}, {'connected_gene': 'LOC105376163', 'score': 0.26}]
chr9 GH09I096565 96565546 96567868 2.01 [{'connected_gene': 'CDC14B', 'score': 554.68}, {'connected_gene': 'HABP4', 'score': 5.73}, {'connected_gene': 'LOC105376163', 'score': 0.29}]
chr9 GH09I096560 96560170 96560556 0.22 [{'connected_gene': 'CDC14B', 'score': 4.96}, {'connected_gene': 'ZNF782', 'score': 2.47}, {'connected_gene': 'LOC105376163', 'score': 0.28}, {'connected_gene': 'HABP4', 'score': 0.14}]
chr9 GH09I096331 96331339 96331528 0.31 [{'connected_gene': 'ZNF367', 'score': 11.08}, {'connected_gene': 'HSD17B3-AS1', 'score': 10.5}, {'connected_gene': 'HABP4', 'score': 7.62}, {'connected_gene': 'HSD17B3', 'score': 4.72}, {'connected_gene': 'SLC35D2', 'score': 0.23}]
chr9 GH09I096381 96381720 96386565 2.12 [{'connected_gene': 'SLC35D2', 'score': 550.77}, {'connected_gene': 'HABP4', 'score': 8.05}, {'connected_gene': 'LOC441455', 'score': 4.52}, {'connected_gene': 'CDC14B', 'score': 4.37}, {'connected_gene': 'LOC100421693', 'score': 0.34}, {'connected_gene': 'ZNF367', 'score': 0.29}]
chr9 GH09I096408 96408450 96409235 0.96 [{'connected_gene': 'LOC100421693', 'score': 550.77}, {'connected_gene': 'HABP4', 'score': 7.59}, {'connected_gene': 'ZNF367', 'score': 0.44}]
chr9 GH09I096423 96423462 96424453 0.6 [{'connected_gene': 'PIR44583', 'score': 0.77}, {'connected_gene': 'HABP4', 'score': 0.31}]
chr9 GH09I096416 96416280 96421674 2.59 [{'connected_gene': 'PIR44583', 'score': 550.77}, {'connected_gene': 'ZNF367', 'score': 550.77}, {'connected_gene': 'ERCC6L2', 'score': 44.59}, {'connected_gene': 'ENSG00000271155', 'score': 22.51}, {'connected_gene': 'ZNF782', 'score': 13.69}, {'connected_gene': 'ZNF322P1', 'score': 13.55}, {'connected_gene': 'EIF4BP3', 'score': 12.0}, {'connected_gene': 'ENSG00000254633', 'score': 11.99}, {'connected_gene': 'NUTM2G', 'score': 11.21}, {'connected_gene': 'MFSD14C', 'score': 10.91}, {'connected_gene': 'LOC441454', 'score': 10.59}, {'connected_gene': 'LOC100421693', 'score': 10.33}, {'connected_gene': 'HABP4', 'score': 10.26}, {'connected_gene': 'CDC14B', 'score': 4.11}]