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
ENST00000298767 [[88195012, 88197365], [88197676, 88197772], [88203031, 88203120], [88205998, 88206206], [88211723, 88211888], [88212976, 88213092], [88213412, 88213588], [88218745, 88218822], [88220155, 88220253], [88220932, 88221044], [88227035, 88227263], [88230748, 88230860], [88231964, 88232101], [88232368, 88232521], [88233634, 88233730], [88256957, 88257076], [88259474, 88260500], [88277327, 88277848], [88281121, 88281572]] [[88197299, 88197365], [88197676, 88197772], [88203031, 88203120], [88205998, 88206206], [88211723, 88211888], [88212976, 88213092], [88213412, 88213588], [88218745, 88218822], [88220155, 88220253], [88220932, 88221044], [88227035, 88227263], [88230748, 88230860], [88231964, 88232101], [88232368, 88232521], [88233634, 88233730], [88256957, 88257076], [88259474, 88260500], [88277327, 88277826]]
ENST00000372075 [[88196766, 88197365], [88197676, 88197772], [88203031, 88203120], [88205998, 88206206], [88212976, 88213092], [88213412, 88213588], [88218745, 88218822], [88220155, 88220253], [88220932, 88221044], [88227035, 88227265]] [[88197299, 88197365], [88197676, 88197772], [88203031, 88203120], [88205998, 88206206], [88212976, 88213092], [88213412, 88213588], [88218745, 88218822], [88220155, 88220253], [88220932, 88221044], [88227035, 88227206]]
ENST00000263070 [[88196769, 88197365], [88197676, 88197772], [88203031, 88203120], [88205998, 88206206], [88212976, 88213092], [88213412, 88213588], [88218745, 88218822], [88220155, 88220253], [88220932, 88221044], [88227035, 88227263], [88230748, 88230766]] [[88197299, 88197365], [88197676, 88197772], [88203031, 88203120], [88205998, 88206206], [88212976, 88213092], [88213412, 88213588], [88218745, 88218822], [88220155, 88220253], [88220932, 88221044], [88227035, 88227206]]
ENST00000484070 [[88195012, 88197365], [88197676, 88197772], [88203031, 88203789]] None
ENST00000495124 [[88211773, 88211888], [88212976, 88213092], [88213412, 88213638]] None
ENST00000489996 [[88226809, 88227263], [88230748, 88230860], [88231964, 88232044]] None
NM_015045 [[88195012, 88197365], [88197676, 88197772], [88203031, 88203120], [88205998, 88206206], [88211723, 88211888], [88212976, 88213092], [88213412, 88213588], [88218745, 88218822], [88220155, 88220253], [88220932, 88221044], [88227035, 88227263], [88230748, 88230860], [88231964, 88232101], [88232368, 88232521], [88233634, 88233730], [88256957, 88257076], [88259474, 88260500], [88277327, 88277848], [88281121, 88281541]] [[88197299, 88197365], [88197676, 88197772], [88203031, 88203120], [88205998, 88206206], [88211723, 88211888], [88212976, 88213092], [88213412, 88213588], [88218745, 88218822], [88220155, 88220253], [88220932, 88221044], [88227035, 88227263], [88230748, 88230860], [88231964, 88232101], [88232368, 88232521], [88233634, 88233730], [88256957, 88257076], [88259474, 88260500], [88277327, 88277826]]
NM_001318328 [[88195012, 88197365], [88197676, 88197772], [88203031, 88203120], [88205998, 88206206], [88211723, 88211888], [88212976, 88213092], [88213412, 88213588], [88218745, 88218822], [88220155, 88220253], [88220932, 88221044], [88227035, 88227263], [88230748, 88230860], [88231964, 88232101], [88232368, 88232521], [88233634, 88233730], [88256957, 88257058], [88259474, 88260500], [88277327, 88277848], [88281121, 88281541]] [[88197299, 88197365], [88197676, 88197772], [88203031, 88203120], [88205998, 88206206], [88211723, 88211888], [88212976, 88213092], [88213412, 88213588], [88218745, 88218822], [88220155, 88220253], [88220932, 88221044], [88227035, 88227263], [88230748, 88230860], [88231964, 88232101], [88232368, 88232521], [88233634, 88233730], [88256957, 88257058], [88259474, 88260500], [88277327, 88277826]]
Promoter
Chrom Start End Description
chr10 88213488 88213506 CAGE_peak_6_at_WAPAL_5end
chr10 88281494 88281570 CAGE_peak_1_at_WAPAL_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I087341 87341000 87344001 1.44 [{'connected_gene': 'NUTM2A-AS1', 'score': 566.02}, {'connected_gene': 'GC10P087344', 'score': 550.77}, {'connected_gene': 'GC10P087345', 'score': 550.77}, {'connected_gene': 'LINC00863', 'score': 550.77}, {'connected_gene': 'WAPL', 'score': 15.76}, {'connected_gene': 'NUTM2D', 'score': 12.28}, {'connected_gene': 'NUTM2A', 'score': 8.7}]
chr10 GH10I087090 87090809 87096982 2.31 [{'connected_gene': 'FAM35A', 'score': 570.9}, {'connected_gene': 'GLUD1', 'score': 550.77}, {'connected_gene': 'NUTM2A-AS1', 'score': 36.57}, {'connected_gene': 'ENSG00000272631', 'score': 34.41}, {'connected_gene': 'WAPL', 'score': 24.98}, {'connected_gene': 'BMPR1A', 'score': 22.65}, {'connected_gene': 'CFL1P1', 'score': 20.56}, {'connected_gene': 'RPL11P3', 'score': 11.19}, {'connected_gene': 'ENSG00000227896', 'score': 10.93}, {'connected_gene': 'BMS1P3', 'score': 10.43}, {'connected_gene': 'ADIRF-AS1', 'score': 9.84}, {'connected_gene': 'OPN4', 'score': 7.62}, {'connected_gene': 'NUTM2A', 'score': 7.49}, {'connected_gene': 'GC10M087058', 'score': 0.29}]
chr10 GH10I086328 86328226 86333330 0.54 [{'connected_gene': 'GRID1', 'score': 12.54}, {'connected_gene': 'MMRN2', 'score': 5.11}, {'connected_gene': 'WAPL', 'score': 4.35}, {'connected_gene': 'MIR346', 'score': 0.2}]
chr10 GH10I086389 86389201 86390713 0.87 [{'connected_gene': 'WAPL', 'score': 5.51}, {'connected_gene': 'OPN4', 'score': 4.43}, {'connected_gene': 'LDB3', 'score': 4.28}, {'connected_gene': 'GC10M086380', 'score': 0.44}, {'connected_gene': 'GC10P086443', 'score': 0.23}]
chr10 GH10I086436 86436572 86443907 1.34 [{'connected_gene': 'RNU6-780P', 'score': 11.72}, {'connected_gene': 'ENSG00000227896', 'score': 11.46}, {'connected_gene': 'WAPL', 'score': 11.46}, {'connected_gene': 'LDB3', 'score': 6.39}, {'connected_gene': 'OPN4', 'score': 5.53}, {'connected_gene': 'BMPR1A', 'score': 4.71}, {'connected_gene': 'GC10P086443', 'score': 0.77}, {'connected_gene': 'GC10M086380', 'score': 0.22}]
chr10 GH10I086435 86435257 86435459 0.4 [{'connected_gene': 'RNU6-780P', 'score': 11.71}, {'connected_gene': 'ENSG00000227896', 'score': 11.38}, {'connected_gene': 'WAPL', 'score': 11.38}, {'connected_gene': 'GC10P086443', 'score': 0.44}, {'connected_gene': 'GC10M086380', 'score': 0.23}]
chr10 GH10I086449 86449517 86450765 0.43 [{'connected_gene': 'RNU6-780P', 'score': 12.2}, {'connected_gene': 'ENSG00000227896', 'score': 11.5}, {'connected_gene': 'WAPL', 'score': 11.5}, {'connected_gene': 'GC10P086443', 'score': 0.44}, {'connected_gene': 'GC10P086489', 'score': 0.28}]
chr10 GH10I086752 86752404 86759776 2.75 [{'connected_gene': 'ENSG00000272631', 'score': 578.45}, {'connected_gene': 'BMPR1A', 'score': 561.74}, {'connected_gene': 'GC10M086750', 'score': 550.77}, {'connected_gene': 'WAPL', 'score': 33.14}, {'connected_gene': 'NUTM2A-AS1', 'score': 22.45}, {'connected_gene': 'ENSG00000227896', 'score': 20.64}, {'connected_gene': 'FAM35A', 'score': 11.35}, {'connected_gene': 'GLUD1', 'score': 2.07}]
chr10 GH10I086399 86399444 86403362 1.75 [{'connected_gene': 'ENSG00000227896', 'score': 19.6}, {'connected_gene': 'ENSG00000272631', 'score': 18.35}, {'connected_gene': 'GRID1', 'score': 17.14}, {'connected_gene': 'WAPL', 'score': 4.49}, {'connected_gene': 'LDB3', 'score': 4.18}, {'connected_gene': 'OPN4', 'score': 2.69}, {'connected_gene': 'GC10M086380', 'score': 0.34}, {'connected_gene': 'GC10P086443', 'score': 0.26}]
chr10 GH10I086594 86594560 86595102 0.69 [{'connected_gene': 'ENSG00000227896', 'score': 11.01}, {'connected_gene': 'WAPL', 'score': 11.01}, {'connected_gene': 'ENSG00000272631', 'score': 6.48}, {'connected_gene': 'GC10P086567', 'score': 0.31}, {'connected_gene': 'RPL7AP8', 'score': 0.28}]
chr10 GH10I086592 86592217 86593383 0.43 [{'connected_gene': 'ENSG00000227896', 'score': 11.01}, {'connected_gene': 'WAPL', 'score': 11.01}, {'connected_gene': 'ENSG00000272631', 'score': 6.48}, {'connected_gene': 'GC10P086567', 'score': 0.31}, {'connected_gene': 'RPL7AP8', 'score': 0.28}]
chr10 GH10I086519 86519521 86523112 1.99 [{'connected_gene': 'GC10M086520', 'score': 550.77}, {'connected_gene': 'ENSG00000227896', 'score': 550.77}, {'connected_gene': 'GC10M086521', 'score': 550.77}, {'connected_gene': 'WAPL', 'score': 550.77}, {'connected_gene': 'LDB3', 'score': 6.41}, {'connected_gene': 'GLUD1', 'score': 4.53}, {'connected_gene': 'GC10P086518', 'score': 0.77}, {'connected_gene': 'GC10P086490', 'score': 0.29}]
chr10 GH10I086585 86585123 86585870 1.04 [{'connected_gene': 'ENSG00000227896', 'score': 11.18}, {'connected_gene': 'WAPL', 'score': 11.18}, {'connected_gene': 'RNU6-780P', 'score': 10.99}, {'connected_gene': 'MIR346', 'score': 9.29}, {'connected_gene': 'OPN4', 'score': 6.3}, {'connected_gene': 'GC10P086567', 'score': 0.37}, {'connected_gene': 'RPL7AP8', 'score': 0.25}]
chr10 GH10I086518 86518801 86519000 0.31 [{'connected_gene': 'GC10M086520', 'score': 550.77}, {'connected_gene': 'GC10P086518', 'score': 550.77}, {'connected_gene': 'WAPL', 'score': 0.77}, {'connected_gene': 'GC10P086490', 'score': 0.29}]
chr10 GH10I086461 86461906 86462473 0.2 [{'connected_gene': 'GC10P086443', 'score': 0.37}, {'connected_gene': 'GC10P086489', 'score': 0.31}, {'connected_gene': 'WAPL', 'score': 0.22}]
chr10 GH10I086506 86506465 86507052 0.43 [{'connected_gene': 'GC10M086492', 'score': 0.39}, {'connected_gene': 'GC10P086518', 'score': 0.39}, {'connected_gene': 'GC10P086490', 'score': 0.37}, {'connected_gene': 'WAPL', 'score': 0.37}]
chr10 GH10I086309 86309579 86320829 0.75 [{'connected_gene': 'ENSG00000227896', 'score': 16.61}, {'connected_gene': 'ADIRF-AS1', 'score': 12.22}, {'connected_gene': 'GRID1', 'score': 11.92}, {'connected_gene': 'MIR346', 'score': 11.5}, {'connected_gene': 'WAPL', 'score': 11.36}, {'connected_gene': 'MMRN2', 'score': 5.39}, {'connected_gene': 'LDB3', 'score': 4.84}, {'connected_gene': 'OPN4', 'score': 4.44}]