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
ENST00000372868 [[43343484, 43343802], [43344006, 43344091], [43348537, 43348754], [43353378, 43353633], [43355727, 43356452]] [[43344031, 43344091], [43348537, 43348754], [43353378, 43353633], [43355727, 43355948]]
ENST00000372865 [[43343523, 43344091], [43348537, 43348762], [43355727, 43356452]] [[43344031, 43344091], [43348537, 43348762], [43355727, 43356099]]
ENST00000497421 [[43343562, 43344091], [43348537, 43350152]] None
ENST00000190983 [[43343885, 43344091], [43348537, 43348754], [43353378, 43353633], [43355727, 43356452]] [[43344031, 43344091], [43348537, 43348754], [43353378, 43353633], [43355727, 43355948]]
ENST00000465000 [[43348627, 43348762], [43353378, 43353633], [43355727, 43356122]] None
ENST00000471629 [[43352297, 43353633], [43355727, 43357150]] None
NM_001323370 [[43343484, 43343802], [43344006, 43344091], [43348537, 43348754], [43353378, 43353633], [43355727, 43356453]] [[43344031, 43344091], [43348537, 43348754], [43353378, 43353633], [43355727, 43355948]]
NM_003881 [[43343484, 43344091], [43348537, 43348754], [43353378, 43353633], [43355727, 43356453]] [[43344031, 43344091], [43348537, 43348754], [43353378, 43353633], [43355727, 43355948]]
NM_001323369 [[43343484, 43344091], [43348537, 43348762], [43355727, 43356453]] [[43344031, 43344091], [43348537, 43348762], [43355727, 43356099]]
Promoter
Chrom Start End Description
chr20 43343476 43343487 CAGE_peak_4_at_WISP2_5end
chr20 43343495 43343509 CAGE_peak_3_at_WISP2_5end
chr20 43343517 43343580 CAGE_peak_2_at_WISP2_5end
chr20 43343596 43343608 CAGE_peak_6_at_WISP2_5end
chr20 43343610 43343645 CAGE_peak_5_at_WISP2_5end
chr20 43343646 43343655 CAGE_peak_7_at_WISP2_5end
chr20 43344001 43344020 CAGE_peak_1_at_WISP2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr20 GH20I044688 44688360 44688509 0.51 [{'connected_gene': 'WISP2', 'score': 12.61}, {'connected_gene': 'KCNK15', 'score': 11.24}, {'connected_gene': 'KCNK15-AS1', 'score': 11.24}, {'connected_gene': 'ADA', 'score': 11.17}, {'connected_gene': 'SERINC3', 'score': 10.47}, {'connected_gene': 'PKIG', 'score': 10.04}, {'connected_gene': 'ENSG00000132832', 'score': 0.44}, {'connected_gene': 'LINC01260', 'score': 0.37}]
chr20 GH20I044713 44713871 44717748 1.78 [{'connected_gene': 'WISP2', 'score': 550.77}, {'connected_gene': 'KCNK15', 'score': 0.31}, {'connected_gene': 'KCNK15-AS1', 'score': 0.29}]
chr20 GH20I044724 44724505 44724787 0.2 [{'connected_gene': 'WISP2', 'score': 0.44}, {'connected_gene': 'KCNK15', 'score': 0.34}, {'connected_gene': 'KCNK15-AS1', 'score': 0.34}]
chr20 GH20I044720 44718140 44718289 0.8 [{'connected_gene': 'WISP2', 'score': 0.77}, {'connected_gene': 'KCNK15', 'score': 0.31}, {'connected_gene': 'KCNK15-AS1', 'score': 0.31}]
chr20 GH20I044718 44718457 44719460 0.54 [{'connected_gene': 'WISP2', 'score': 0.77}, {'connected_gene': 'KCNK15', 'score': 0.31}, {'connected_gene': 'KCNK15-AS1', 'score': 0.31}]
chr20 GH20I044860 44860983 44864204 0.79 [{'connected_gene': 'YWHAB', 'score': 17.9}, {'connected_gene': 'KCNK15', 'score': 11.61}, {'connected_gene': 'KCNK15-AS1', 'score': 11.61}, {'connected_gene': 'RIMS4', 'score': 11.35}, {'connected_gene': 'WISP2', 'score': 11.22}, {'connected_gene': 'ENSG00000132832', 'score': 10.84}, {'connected_gene': 'PABPC1L', 'score': 10.4}, {'connected_gene': 'GC20M044881', 'score': 0.37}, {'connected_gene': 'GC20M044880', 'score': 0.37}, {'connected_gene': 'PGBD4P2', 'score': 0.34}]
chr20 GH20I045334 45334860 45349300 2.82 [{'connected_gene': 'SDC4', 'score': 558.55}, {'connected_gene': 'NCOA5', 'score': 126.07}, {'connected_gene': 'PCIF1', 'score': 45.76}, {'connected_gene': 'ZNF335', 'score': 40.8}, {'connected_gene': 'ZSWIM1', 'score': 25.21}, {'connected_gene': 'CD40', 'score': 23.57}, {'connected_gene': 'SPATA25', 'score': 22.75}, {'connected_gene': 'ENSG00000271984', 'score': 20.51}, {'connected_gene': 'SNX21', 'score': 16.62}, {'connected_gene': 'DBNDD2', 'score': 13.61}, {'connected_gene': 'SYS1-DBNDD2', 'score': 12.42}, {'connected_gene': 'KCNK15', 'score': 11.52}, {'connected_gene': 'SYS1', 'score': 10.81}, {'connected_gene': 'PIGT', 'score': 10.65}, {'connected_gene': 'WISP2', 'score': 10.49}, {'connected_gene': 'DNTTIP1', 'score': 10.36}, {'connected_gene': 'RBPJL', 'score': 5.12}, {'connected_gene': 'WFDC12', 'score': 4.93}, {'connected_gene': 'SLPI', 'score': 4.86}, {'connected_gene': 'ENSG00000275894', 'score': 0.77}, {'connected_gene': 'TRV-CAC14-1', 'score': 0.37}]
chr20 GH20I044719 44719576 44722235 1.22 [{'connected_gene': 'KCNK15', 'score': 6.68}, {'connected_gene': 'WISP2', 'score': 0.44}, {'connected_gene': 'KCNK15-AS1', 'score': 0.31}]
chr20 GH20I044710 44710342 44712875 0.49 [{'connected_gene': 'KCNK15', 'score': 11.12}, {'connected_gene': 'KCNK15-AS1', 'score': 11.12}, {'connected_gene': 'WISP2', 'score': 0.77}, {'connected_gene': 'ENSG00000132832', 'score': 0.37}]
chr20 GH20I044738 44738778 44739438 1.25 [{'connected_gene': 'KCNK15', 'score': 5.76}, {'connected_gene': 'KCNK15-AS1', 'score': 0.44}, {'connected_gene': 'WISP2', 'score': 0.34}]
chr20 GH20I044702 44702435 44707194 1.2 [{'connected_gene': 'KCNK15', 'score': 11.68}, {'connected_gene': 'KCNK15-AS1', 'score': 11.68}, {'connected_gene': 'SDC4', 'score': 9.85}, {'connected_gene': 'ENSG00000132832', 'score': 8.18}, {'connected_gene': 'HSPD1P21', 'score': 4.36}, {'connected_gene': 'WISP2', 'score': 0.39}]
chr20 GH20I044206 44206836 44212942 2.33 [{'connected_gene': 'OSER1', 'score': 570.29}, {'connected_gene': 'OSER1-AS1', 'score': 566.22}, {'connected_gene': 'SRSF6', 'score': 22.04}, {'connected_gene': 'FITM2', 'score': 12.3}, {'connected_gene': 'L3MBTL1', 'score': 11.73}, {'connected_gene': 'KCNK15', 'score': 11.53}, {'connected_gene': 'IFT52', 'score': 11.19}, {'connected_gene': 'WISP2', 'score': 10.49}, {'connected_gene': 'JPH2', 'score': 0.34}]
chr20 GH20I044722 44722732 44723371 0.56 [{'connected_gene': 'KCNK15-AS1', 'score': 5.8}, {'connected_gene': 'WISP2', 'score': 0.44}, {'connected_gene': 'KCNK15', 'score': 0.34}]
chr20 GH20I044640 44640672 44653201 2.57 [{'connected_gene': 'ADA', 'score': 561.63}, {'connected_gene': 'GC20M044554', 'score': 550.77}, {'connected_gene': 'GDAP1L1', 'score': 13.68}, {'connected_gene': 'KCNK15', 'score': 11.65}, {'connected_gene': 'PKIG', 'score': 11.25}, {'connected_gene': 'WISP2', 'score': 10.66}, {'connected_gene': 'SYS1', 'score': 9.78}, {'connected_gene': 'ENSG00000132832', 'score': 9.01}, {'connected_gene': 'OSER1', 'score': 3.0}, {'connected_gene': 'STK4', 'score': 1.7}, {'connected_gene': 'GC20P044636', 'score': 0.39}]
chr20 GH20I044698 44698454 44698735 0.62 [{'connected_gene': 'ADA', 'score': 6.66}, {'connected_gene': 'PI3', 'score': 4.74}, {'connected_gene': 'PABPC1L', 'score': 4.38}, {'connected_gene': 'KCNK15', 'score': 1.49}, {'connected_gene': 'ENSG00000132832', 'score': 0.77}, {'connected_gene': 'WISP2', 'score': 0.37}, {'connected_gene': 'KCNK15-AS1', 'score': 0.25}]
chr20 GH20I044700 44700780 44702100 1.16 [{'connected_gene': 'ENSG00000132832', 'score': 20.57}, {'connected_gene': 'SYS1', 'score': 9.78}, {'connected_gene': 'ADA', 'score': 6.78}, {'connected_gene': 'WISP2', 'score': 0.39}, {'connected_gene': 'KCNK15-AS1', 'score': 0.26}]
chr20 GH20I044690 44690836 44697249 1.7 [{'connected_gene': 'ENSG00000132832', 'score': 16.52}, {'connected_gene': 'WISP2', 'score': 15.96}, {'connected_gene': 'KCNK15', 'score': 13.8}, {'connected_gene': 'KCNK15-AS1', 'score': 11.33}, {'connected_gene': 'ADA', 'score': 11.15}, {'connected_gene': 'SERINC3', 'score': 10.46}, {'connected_gene': 'PKIG', 'score': 10.04}, {'connected_gene': 'PIGT', 'score': 4.62}, {'connected_gene': 'PABPC1L', 'score': 4.39}, {'connected_gene': 'LINC01260', 'score': 0.34}]
chr20 GH20I044665 44665833 44667072 0.2 [{'connected_gene': 'ENSG00000132832', 'score': 20.07}, {'connected_gene': 'WISP2', 'score': 12.01}, {'connected_gene': 'KCNK15-AS1', 'score': 11.28}, {'connected_gene': 'PKIG', 'score': 10.25}, {'connected_gene': 'GC20P044658', 'score': 0.44}, {'connected_gene': 'LINC01260', 'score': 0.44}]
chr20 GH20I044709 44709257 44710322 0.2 [{'connected_gene': 'ENSG00000132832', 'score': 20.58}, {'connected_gene': 'KCNK15', 'score': 11.1}, {'connected_gene': 'KCNK15-AS1', 'score': 11.1}, {'connected_gene': 'WISP2', 'score': 0.44}]
chr20 GH20I044737 44735100 44735249 0.83 [{'connected_gene': 'ENSG00000132832', 'score': 12.11}, {'connected_gene': 'PKIG', 'score': 10.11}, {'connected_gene': 'KCNK15', 'score': 0.39}, {'connected_gene': 'KCNK15-AS1', 'score': 0.39}, {'connected_gene': 'WISP2', 'score': 0.34}]
chr20 GH20I044735 44735793 44737071 1.35 [{'connected_gene': 'ENSG00000132832', 'score': 12.1}, {'connected_gene': 'PKIG', 'score': 10.11}, {'connected_gene': 'KCNK15-AS1', 'score': 6.63}, {'connected_gene': 'KCNK15', 'score': 0.44}, {'connected_gene': 'WISP2', 'score': 0.34}]
chr20 GH20I044736 44735371 44735693 0.72 [{'connected_gene': 'ENSG00000132832', 'score': 12.11}, {'connected_gene': 'PKIG', 'score': 10.11}, {'connected_gene': 'KCNK15-AS1', 'score': 6.85}, {'connected_gene': 'KCNK15', 'score': 0.39}, {'connected_gene': 'WISP2', 'score': 0.34}]
chr20 GH20I044726 44726726 44734129 1.41 [{'connected_gene': 'ENSG00000132832', 'score': 17.32}, {'connected_gene': 'PKIG', 'score': 10.11}, {'connected_gene': 'KCNK15-AS1', 'score': 7.39}, {'connected_gene': 'KCNK15', 'score': 5.94}, {'connected_gene': 'WISP2', 'score': 0.37}]
chr20 GH20I044683 44683473 44685949 1.29 [{'connected_gene': 'ENSG00000132832', 'score': 44.95}, {'connected_gene': 'ADA', 'score': 18.03}, {'connected_gene': 'KCNK15', 'score': 15.97}, {'connected_gene': 'WISP2', 'score': 12.59}, {'connected_gene': 'KCNK15-AS1', 'score': 11.23}, {'connected_gene': 'SERINC3', 'score': 10.47}, {'connected_gene': 'PKIG', 'score': 10.05}, {'connected_gene': 'OSER1-AS1', 'score': 5.33}, {'connected_gene': 'LINC01260', 'score': 0.39}]